FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Bulashev, AK Borovikov, SN Serikova, SS Suranshiev, ZA Kiyan, VS Eskendirova, SZ AF Bulashev, Aitbay K. Borovikov, Sergey N. Serikova, Shynar S. Suranshiev, Zhanbolat A. Kiyan, Vladimir S. Eskendirova, Saule Z. TI Development of an ELISA using anti-idiotypic antibody for diagnosis of opisthorchiasis SO FOLIA PARASITOLOGICA LA English DT Article DE Opisthorchis felineus; excretory-secretory antigen; antigenicity; immunogenicity; monoclonal antibody; polyclonal antibody ID ENZYME-IMMUNOASSAY; VIVERRINI; INFECTIONS; RESPONSES; PROTEINS; FELINEUS; ANTIGENS; SYSTEM; CELLS; LIVER AB Monoclonal antibody specific for an epitope of cretory-secretory antigen protein of Opisthorchis felineus (Rivolta, 1884) (Trematoda: Opisthorchiidae) with a molecular weight of 28 kDa was used in a sandwich enzyme-linked immunosorbent assay (ELISA) for immobilisation of liver fluke specific antigen to the solid phase. Examination of human sera by this ELISA compared with commercial assays demonstrated that the monoclonal antibody epitope is located within this significant parasite protein. Anti-idiotypic antibody specific for the paratope of this monoclonal antibody was obtained by a hybridoma technique. Mimicking an epitope of excretory-secretory antigen of O. felineus, it had the capacity to bind specific antibody and elicit an antibody response. The value of anti-idiotypic antibody as a substitute for the liver fluke antigen was tested by ELISA using serum samples of infected dogs. Anti-idiotypic antibody proved to be of value in both an indirect-ELISA and a competitive-ELISA for diagnosis of opisthorchiasis. Mature trematodes were isolated from all infected animals. The faecal egg counts were negative in dogs with a relatively small number of parasites, despite finding antibodies in serum by ELISA. Substitution of parasite antigen with anti-idiotype avoids the use of experimental animals and also reduces time-consuming steps of antigen preparation. C1 [Bulashev, Aitbay K.; Borovikov, Sergey N.; Serikova, Shynar S.; Suranshiev, Zhanbolat A.; Kiyan, Vladimir S.] S Seifullin Kazakh Agrotech Univ, Fac Vet & Livestock Technol, Prospect Pobedy 62, Astana 010011, Kazakhstan. [Eskendirova, Saule Z.] Natl Ctr Biotechnol Republ Kazakhstan, Cell Engn Lab, Astana, Kazakhstan. RP Bulashev, AK (reprint author), S Seifullin Kazakh Agrotech Univ, Fac Vet & Livestock Technol, Prospect Pobedy 62, Astana 010011, Kazakhstan. EM aytbay57@mail.ru FU Ministry of Education and Science of the Republic of Kazakhstan [0109RK00476, 0112 RK01353] FX The authors are grateful to S.K. Atygaeva (Astana Infectious Diseases Hospital, Astana, Kazakhstan) who provided serum samples from patients suspected of contracting infectious diseases and Orken S. Akibekov, Lyudmila A. Lider (S. Seifullin Kazakh Agro-Technical University, Astana, Kazakhstan), Sadibek S. Tokpan (National Veterinary Laboratory, Astana, Kazakhstan) for their technical support to test fish for the presence of metacercariae and infect dogs. We are also indebted to Sara O. Kitaibekova for the revision of the manuscript. This investigation was financially supported by the Ministry of Education and Science of the Republic of Kazakhstan within the framework of the projects Nos. 0109RK00476 and 0112 RK01353 for 2009-2011 and 2012-2014, respectively. NR 36 TC 1 Z9 1 U1 8 U2 8 PU FOLIA PARASITOLOGICA PI CESKE BUDEJOVICE PA BRANISOVSKA 31,, CESKE BUDEJOVICE 370 05, CZECH REPUBLIC SN 0015-5683 EI 1803-6465 J9 FOLIA PARASIT JI Folia Parasitol. PD JUL 14 PY 2016 VL 63 AR 025 DI 10.14411/fp.2016.025 PG 8 WC Parasitology SC Parasitology GA DV0LJ UT WOS:000382608700001 ER PT J AU Courneya, KS McNeely, ML Culos-Reed, SN Vallance, JK Bell, GJ Mackey, JR Matthews, CE Morielli, AR Cook, D MacLaughlin, S Farris, MS Voaklander, S O'Reilly, R Friedenreich, CM AF Courneya, Kerry S. McNeely, Margaret L. Culos-Reed, S. Nicole Vallance, Jeff K. Bell, Gordon J. Mackey, John R. Matthews, Charles E. Morielli, Andria R. Cook, Diane MacLaughlin, Sarah Farris, Megan S. Voaklander, Stephanie O'Reilly, Rachel Friedenreich, Christine M. TI The Alberta Moving Beyond Breast Cancer (AMBER) Cohort Study: Recruitment, Baseline Assessment, and Description of the First 500 Participants SO BMC CANCER LA English DT Article DE Body composition; Breast cancer; Exercise; Health-related fitness; Lymphedema; Physical activity; Quality of life; Sedentary behavior; Survivorship ID PHYSICAL-ACTIVITY; UNITED-STATES; SURVIVORS; HEALTH; QUESTIONNAIRE; METAANALYSIS; VALIDITY; LIFE AB Background: To our knowledge, the Alberta Moving Beyond Breast Cancer (AMBER) Study is the first and only prospective cohort study of breast cancer survivors that includes objectively-measured physical activity (PA), sedentary behavior, health-related fitness (HRF), and biologic mechanisms focused on understanding breast cancer outcomes. The purpose of the present study was to report on the feasibility of recruitment, baseline measurement completion, and the representativeness of the first 500 participants. Methods: AMBER is enrolling newly diagnosed stage I (>= T1c) to IIIc breast cancer survivors in Alberta, Canada. Baseline assessments are completed soon after diagnosis and include cardiorespiratory fitness, musculoskeletal fitness, body composition, objective and self-reported PA and sedentary behavior, lymphedema, and blood collection. Results: Between July 2012 and November 2014, AMBER recruited its first 500 participants from a pool of 1,447 (35 %) eligible breast cancer survivors. Baseline HRF assessments were completed on >= 85 % of participants with the exception of upper body strength. Collection of >= 4 days/week of monitoring for the Actigraph GT3X (R) and ActivPAL (R) were obtained from 90 % of participants. Completion rates were also high for blood (99 %), lymphedema (98 %), and questionnaires (95 %) including patient-reported outcomes and correlates of exercise. The first 500 participants in AMBER are an average age of 56 years, 60 % are overweight or obese, and 58 % have disease stage II or III. Conclusion: Despite the modest recruitment rate and younger age, AMBER has demonstrated that many newly diagnosed breast cancer survivors are willing and able to complete a wide array of sophisticated and physically demanding HRF and PA assessments soon after diagnosis. AMBER is a unique breast cancer survivor cohort that may inform future randomized controlled trials on lifestyle and breast cancer outcomes as well as PA behavior change in breast cancer survivors. Moreover, AMBER may also inform guidelines on PA, sedentary behavior, and HRF for improving breast cancer outcomes and survivorship. C1 [Courneya, Kerry S.; Bell, Gordon J.; Morielli, Andria R.; Cook, Diane; Voaklander, Stephanie] Univ Alberta, Fac Phys Educ & Recreat, 1-113 Univ Hall, Edmonton, AB T6G 2H9, Canada. [McNeely, Margaret L.] Univ Alberta, Fac Rehabil Med, Edmonton, AB, Canada. [Culos-Reed, S. Nicole] Univ Calgary, Fac Kinesiol, Calgary, AB, Canada. [Vallance, Jeff K.] Athabasca Univ, Fac Hlth Disciplines, Athabasca, AB, Canada. [Mackey, John R.] Univ Alberta, Fac Med & Dent, Edmonton, AB, Canada. [Matthews, Charles E.] US Natl Canc Inst, Div Canc Epidemiol & Genet, Bethesda, MD USA. [MacLaughlin, Sarah; Farris, Megan S.; O'Reilly, Rachel; Friedenreich, Christine M.] Alberta Hlth Serv, Dept Canc Epidemiol & Prevent Res, Calgary, AB, Canada. RP Courneya, KS (reprint author), Univ Alberta, Fac Phys Educ & Recreat, 1-113 Univ Hall, Edmonton, AB T6G 2H9, Canada. EM Kerry.courneya@ualberta.ca FU Canadian Institutes of Health Research; Canada Research Chairs Program; Alberta Innovates-Health Solutions Population Health Investigator Award; AIHS Health Senior Scholar Award; Alberta Cancer Foundation FX This study is funded by a Team Grant from the Canadian Institutes of Health Research. KSC and JKV are supported by the Canada Research Chairs Program. JKV is also supported by an Alberta Innovates-Health Solutions Population Health Investigator Award. CMF is supported by an AIHS Health Senior Scholar Award and by the Alberta Cancer Foundation Weekend to End Women's Cancers Breast Cancer Chair. NR 17 TC 1 Z9 1 U1 5 U2 5 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2407 J9 BMC CANCER JI BMC Cancer PD JUL 14 PY 2016 VL 16 AR 481 DI 10.1186/s12885-016-2534-4 PG 9 WC Oncology SC Oncology GA DR7PQ UT WOS:000380092600001 PM 27416835 ER PT J AU Vandenberg, LN Agerstrand, M Beronius, A Beausoleil, C Bergman, A Bero, LA Bornehag, CG Boyer, CS Cooper, GS Cotgreave, I Gee, D Grandjean, P Guyton, KZ Hass, U Heindel, JJ Jobling, S Kidd, KA Kortenkamp, A Macleod, MR Martin, OV Norinder, U Scheringer, M Thayer, KA Toppari, J Whaley, P Woodruff, TJ Ruden, C AF Vandenberg, Laura N. Agerstrand, Marlene Beronius, Anna Beausoleil, Claire Bergman, Ake Bero, Lisa A. Bornehag, Carl-Gustaf Boyer, C. Scott Cooper, Glinda S. Cotgreave, Ian Gee, David Grandjean, Philippe Guyton, Kathryn Z. Hass, Ulla Heindel, Jerrold J. Jobling, Susan Kidd, Karen A. Kortenkamp, Andreas Macleod, Malcolm R. Martin, Olwenn V. Norinder, Ulf Scheringer, Martin Thayer, Kristina A. Toppari, Jorma Whaley, Paul Woodruff, Tracey J. Ruden, Christina TI A proposed framework for the systematic review and integrated assessment (SYRINA) of endocrine disrupting chemicals SO ENVIRONMENTAL HEALTH LA English DT Article DE Endocrine disrupting chemicals; Systematic review; Study evaluation; Strength of evidence; Weight of evidence; Adverse effect; Endocrine disrupting activity; Evidence integration; Epidemiology; In vivo ID EVIDENCE-BASED MEDICINE; ENVIRONMENTAL-HEALTH SCIENCE; RISK-ASSESSMENT; PUBLIC-HEALTH; FETAL-GROWTH; DEVELOPMENTAL ORIGINS; SCIENTIFIC STATEMENT; EVALUATION CRITERIA; DISEASE; GUIDE AB Background: The issue of endocrine disrupting chemicals (EDCs) is receiving wide attention from both the scientific and regulatory communities. Recent analyses of the EDC literature have been criticized for failing to use transparent and objective approaches to draw conclusions about the strength of evidence linking EDC exposures to adverse health or environmental outcomes. Systematic review methodologies are ideal for addressing this issue as they provide transparent and consistent approaches to study selection and evaluation. Objective methods are needed for integrating the multiple streams of evidence (epidemiology, wildlife, laboratory animal, in vitro, and in silico data) that are relevant in assessing EDCs. Methods: We have developed a framework for the systematic review and integrated assessment (SYRINA) of EDC studies. The framework was designed for use with the International Program on Chemical Safety (IPCS) and World Health Organization (WHO) definition of an EDC, which requires appraisal of evidence regarding 1) association between exposure and an adverse effect, 2) association between exposure and endocrine disrupting activity, and 3) a plausible link between the adverse effect and the endocrine disrupting activity. Results: Building from existing methodologies for evaluating and synthesizing evidence, the SYRINA framework includes seven steps: 1) Formulate the problem; 2) Develop the review protocol; 3) Identify relevant evidence; 4) Evaluate evidence from individual studies; 5) Summarize and evaluate each stream of evidence; 6) Integrate evidence across all streams; 7) Draw conclusions, make recommendations, and evaluate uncertainties. The proposed method is tailored to the IPCS/WHO definition of an EDC but offers flexibility for use in the context of other definitions of EDCs. Conclusions: When using the SYRINA framework, the overall objective is to provide the evidence base needed to support decision making, including any action to avoid/minimise potential adverse effects of exposures. This framework allows for the evaluation and synthesis of evidence from multiple evidence streams. Finally, a decision regarding regulatory action is not only dependent on the strength of evidence, but also the consequences of action/inaction, e.g. limited or weak evidence may be sufficient to justify action if consequences are serious or irreversible. C1 [Agerstrand, Marlene; Bergman, Ake; Ruden, Christina] Stockholm Univ, Dept Environm Sci & Analyt Chem, Stockholm, Sweden. [Vandenberg, Laura N.] Univ Massachusetts, Amherst Sch Publ Hlth & Hlth Sci, Dept Environm Hlth Sci, Amherst, MA USA. [Beronius, Anna] Karolinska Inst, Inst Environm Med, Stockholm, Sweden. [Beausoleil, Claire] ANSES French Agcy Food Environm & Occupat Hlth Sa, Maisons Alfort, France. [Bergman, Ake; Boyer, C. Scott; Norinder, Ulf] Swedish Toxicol Sci Res Ctr, Sodertalje, Sweden. [Bero, Lisa A.] Univ Sydney, Charles Perkins Ctr, Sydney, NSW, Australia. [Bornehag, Carl-Gustaf] Karlstad Univ, Dept Hlth Sci, Karlstad, Sweden. [Bornehag, Carl-Gustaf] Icahn Sch Med Mt Sinai, New York, NY USA. [Cooper, Glinda S.] US EPA, Washington, DC USA. [Cotgreave, Ian] Karolinska Inst, Swedish Toxicol Sci Res Ctr Swetox, Sodertalje, Sweden. [Gee, David; Jobling, Susan; Kortenkamp, Andreas; Martin, Olwenn V.] Brunel Univ London, Inst Environm Hlth & Societies, Uxbridge, Middx, England. [Grandjean, Philippe] Univ Southern Denmark, Dept Environm Med, Odense, Denmark. Int Agcy Res Canc, Lyon, France. Tech Univ Denmark, Natl Food Inst, Soborg, Denmark. [Heindel, Jerrold J.] Natl Inst Environm Hlth Sci, Div Extramural Res & Training, Res Triangle Pk, NC USA. [Kidd, Karen A.] Univ New Brunswick, Dept Biol, St John, NB, Canada. [Kidd, Karen A.] Univ New Brunswick, Canadian Rivers Inst, St John, NB, Canada. [Macleod, Malcolm R.] Univ Edinburgh, Ctr Clin Brain Sci, Edinburgh, Midlothian, Scotland. [Scheringer, Martin] ETH, Inst Chem & Bioengn, Zurich, Switzerland. [Thayer, Kristina A.] Natl Inst Environm Hlth Sci, Dept Hlth & Human Serv, Div Natl Toxicol Program, NIH, Res Triangle Pk, NC USA. [Toppari, Jorma] Univ Turku, Turku Univ Hosp, Turku, Finland. [Whaley, Paul] Univ Lancaster, Lancaster Environm Ctr, Lancaster, England. [Woodruff, Tracey J.] Univ Calif San Francisco, Sch Med, Program Reprod Hlth & Environm, Oakland, CA USA. RP Ruden, C (reprint author), Stockholm Univ, Dept Environm Sci & Analyt Chem, Stockholm, Sweden. EM christina.ruden@aces.su.se RI jobling, susan/N-9316-2016; OI Whaley, Paul/0000-0003-4021-0785; Macleod, Malcolm Robert/0000-0001-9187-9839; Grandjean, Philippe/0000-0003-4046-9658 FU Swedish Foundation for Strategic Environmental Research "Mistra"; National Institute of Environmental Health Sciences of the National Institutes of Health [K22ES025811]; Clarence Heller Foundation [A123547]; Passport Foundation; Forsythia Foundation; National Institute of Environmental Health Sciences [ES018135, ESO22841]; U.S. EPA STAR grants [RD83467801, RD83543301]; Academy of Finland; Sigrid Juselius; Danish EPA; Canada Research Chairs program [950-230607] FX The workshops that supported the writing of this manuscript were funded by the Swedish Foundation for Strategic Environmental Research "Mistra". LNV was funded by Award Number K22ES025811 from the National Institute of Environmental Health Sciences of the National Institutes of Health. TJW was funded by The Clarence Heller Foundation (A123547), the Passport Foundation, the Forsythia Foundation, the National Institute of Environmental Health Sciences (grants ES018135 and ESO22841), and U.S. EPA STAR grants (RD83467801 and RD83543301). JT was funded by the Academy of Finland and Sigrid Juselius. UH was funded by the Danish EPA. KAK was funded by the Canada Research Chairs program grant number 950-230607. NR 96 TC 1 Z9 1 U1 10 U2 27 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1476-069X J9 ENVIRON HEALTH-GLOB JI Environ. Health PD JUL 14 PY 2016 VL 15 AR 74 DI 10.1186/s12940-016-0156-6 PG 19 WC Environmental Sciences; Public, Environmental & Occupational Health SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health GA DR6EG UT WOS:000379994300001 PM 27412149 ER PT J AU Junker, A Balasubramanian, R Ciancetta, A Uliassi, E Kiselev, E Martiriggiano, C Trujillo, K Mtchedlidze, G Birdwell, L Brown, KA Harden, TK Jacobson, KA AF Junker, Anna Balasubramanian, Ramachandran Ciancetta, Antonella Uliassi, Elisa Kiselev, Evgeny Martiriggiano, Chiara Trujillo, Kevin Mtchedlidze, Giorgi Birdwell, Leah Brown, Kyle A. Harden, T. Kendall Jacobson, Kenneth A. TI Structure-Based Design of 3-(4-Aryl-1H-1,2,3-triazol-1-yl)-Biphenyl Derivatives as P2Y(14) Receptor Antagonists SO JOURNAL OF MEDICINAL CHEMISTRY LA English DT Article ID GENERAL FORCE-FIELD; MOLECULAR-DYNAMICS; HUMAN NEUTROPHILS; CHEMOTAXIS; INHIBITION; AUTOMATION; CHEMISTRY; TEMPLATE; LIGANDS; ESTERS AB UDP and UDP-glucose activate the P2Y(14) receptor (P2Y(14)R) to modulate processes related to inflammation, diabetes, and asthma. A computational pipeline suggested alternatives to naphthalene of a previously reported P2Y14R antagonist (3, PPTN) using docking and molecular dynamics simulations on a hP2Y(14)R homology model based on P2Y(12)R structures. By reevaluating the binding of 3 to P2Y(14)R computationally, two alternatives, i.e., alkynyl and triazolyl derivatives, were identified. Improved synthesis of fluorescent antagonist 4 enabled affinity quantification (IC(50)s, nM) using flow cytometry of P2Y(14)R-expressing CHO cells. p-F3C-phenyl-triazole 65 (32) was more potent than a corresponding alkyne 11. Thus, additional triazolyl derivatives were prepared, as guided by docking simulations, with nonpolar aryl substituents favored. Although triazoles were less potent than 3 (6), simpler synthesis facilitated further structural optimization. Additionally, relative P2Y(14)R affinities agreed with predicted binding of alkynyl and triazole analogues. These triazoles, designed through a structure-based approach, can be assessed in disease models. C1 [Junker, Anna; Balasubramanian, Ramachandran; Ciancetta, Antonella; Uliassi, Elisa; Kiselev, Evgeny; Martiriggiano, Chiara; Trujillo, Kevin; Mtchedlidze, Giorgi; Birdwell, Leah; Jacobson, Kenneth A.] NIDDK, Mol Recognit Sect, Bioorgan Chem Lab, NIH, Bethesda, MD 20892 USA. [Brown, Kyle A.; Harden, T. Kendall] Univ N Carolina, Dept Pharmacol, Sch Med, Chapel Hill, NC 27599 USA. RP Jacobson, KA (reprint author), NIDDK, Mol Recognit Sect, Bioorgan Chem Lab, NIH, Bethesda, MD 20892 USA. EM kennethj@niddk.nih.gov RI Jacobson, Kenneth/A-1530-2009 OI Jacobson, Kenneth/0000-0001-8104-1493 FU NIDDK Intramural Research Program [ZIA DK031116-28]; Deutsche Forschungsgemeinschaft (German Research Foundation); National Institute of Mental Health's Psychoactive Drug Screening Program [HHSN-271-2008-00025-C] FX We acknowledge support from the NIDDK Intramural Research Program (ZIA DK031116-28) and technical assistance of Ryan Surujdin and Jinha Yu (NIDDK). Financial support of Anna Junker by the Deutsche Forschungsgemeinschaft (German Research Foundation) is gratefully acknowledged. We thank Bryan L. Roth (University of North Carolina at Chapel Hill) and National Institute of Mental Health's Psychoactive Drug Screening Program (contract no. HHSN-271-2008-00025-C) for screening data. We thank Rolf Swenson and Zhen-Dan Shi (Imaging Probe Development Center, NHLBI) for reagents 115 and 116. NR 46 TC 0 Z9 0 U1 5 U2 12 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0022-2623 EI 1520-4804 J9 J MED CHEM JI J. Med. Chem. PD JUL 14 PY 2016 VL 59 IS 13 BP 6149 EP 6168 DI 10.1021/acs.jmedchem.6b00044 PG 20 WC Chemistry, Medicinal SC Pharmacology & Pharmacy GA DR6CN UT WOS:000379989800014 PM 27331270 ER PT J AU Ashinsky, BG Fishbein, KW Carter, EM Lin, PC Pleshko, N Raggio, CL Spencer, RG AF Ashinsky, Beth G. Fishbein, Kenneth W. Carter, Erin M. Lin, Ping-Chang Pleshko, Nancy Raggio, Cathleen L. Spencer, Richard G. TI Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging SO PLOS ONE LA English DT Article ID COLLAGEN MUTATION DATABASE; CONNECTIVE-TISSUE; RELAXATION-TIMES; CARTILAGE; MRI; AGE; DISEASE; TESLA; T2 AB The purpose of this study is to evaluate the ability of quantitative magnetic resonance imaging (MRI) to discriminate between skin biopsies from individuals with osteogenesis imperfecta (OI) and skin biopsies from individuals without OI. Skin biopsies from nine controls (unaffected) and nine OI patients were imaged to generate maps of five separate MR parameters, T-1, T-2, k(m), MTR and ADC. Parameter values were calculated over the dermal region and used for univariate and multiparametric classification analysis. A substantial degree of overlap of individual MR parameters was observed between control and OI groups, which limited the sensitivity and specificity of univariate classification. Classification accuracies ranging between 39% and 67% were found depending on the variable of investigation, with T-2 yielding the best accuracy of 67%. When several MR parameters were considered simultaneously in a multivariate analysis, the classification accuracies improved up to 89% for specific combinations, including the combination of T-2 and k(m). These results indicate that multiparametric classification by quantitative MRI is able to detect differences between the skin of OI patients and of unaffected individuals, which motivates further study of quantitative MRI for the clinical diagnosis of OI. C1 [Ashinsky, Beth G.; Fishbein, Kenneth W.; Spencer, Richard G.] NIA, Lab Clin Invest, Magnet Resonance Imaging & Spect Sect, NIH, Baltimore, MD 21224 USA. [Carter, Erin M.; Raggio, Cathleen L.] Hosp Special Surg, Kathryn O & Alan C Greenberg Ctr Skeletal Dysplas, 535 E 70th St, New York, NY 10021 USA. [Lin, Ping-Chang] Augusta Univ, GRU Canc Ctr, Core Imaging Facil Small Anim, Augusta, GA USA. [Pleshko, Nancy] Temple Univ, Coll Engn, Dept Bioengn, Philadelphia, PA 19122 USA. [Raggio, Cathleen L.] Hosp Special Surg, Dept Orthopaed, 535 E 70th St, New York, NY 10021 USA. RP Spencer, RG (reprint author), NIA, Lab Clin Invest, Magnet Resonance Imaging & Spect Sect, NIH, Baltimore, MD 21224 USA. EM spencer@helix.nih.gov OI Fishbein, Kenneth/0000-0002-6353-4603 FU Pediatric Society of North America; National Institute on Aging, National Institutes of Health, Intramural Research Program FX This work was supported by a Pediatric Society of North America (https://posna.org/) Grant to CLR, "Identification of Skin Abnormalities in OI Patients by MR Imaging" and the National Institute on Aging, National Institutes of Health, Intramural Research Program (RGS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 41 TC 0 Z9 0 U1 2 U2 2 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 14 PY 2016 VL 11 IS 7 AR e0157891 DI 10.1371/journal.pone.0157891 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR0DZ UT WOS:000379579500014 PM 27416032 ER PT J AU De Vries, RG Tomlinson, T Kim, HM Krenz, C Haggerty, D Ryan, KA Kim, SYH AF De Vries, Raymond Gene Tomlinson, Tom Kim, Hyungjin Myra Krenz, Chris Haggerty, Diana Ryan, Kerry A. Kim, Scott Y. H. TI Understanding the Public's Reservations about Broad Consent and Study-By-Study Consent for Donations to a Biobank: Results of a National Survey SO PLOS ONE LA English DT Article ID INFORMED-CONSENT; WILLINGNESS; CANCER; RISK AB Researchers and policymakers do not agree about the most appropriate way to get consent for the use of donations to a biobank. The most commonly used method is blanket-or broad-consent where donors allow their donation to be used for any future research approved by the biobank. This approach does not account for the fact that some donors may have moral concerns about the uses of their biospecimens. This problem can be avoided using "real-time"-or study-by-study-consent, but this policy places a significant burden on biobanks. In order to better understand the public's preferences regarding biobank consent policy, we surveyed a sample that was representative of the population of the United States. Respondents were presented with 5 biobank consent policies and were asked to indicate which policies were acceptable/unacceptable and to identify the best/worst policies. They were also given 7 research scenarios that could create moral concern (e.g. research intending to make abortions safer and more effective) and asked how likely they would be to provide broad consent knowing that their donation might be used in that research. Substantial minorities found both broad and study-by-study consent to be unacceptable and identified those two options as the worst policies. Furthermore, while the type of moral concern (e.g., regarding abortion, the commercial use of donations, or stem cell research) had no effect on policy preferences, an increase in the number of research scenarios generating moral concerns was related to an increased likelihood of finding broad consent to be the worst policy. The rejection of these ethically problematic and costly extremes is good news for biobanks. The challenge now is to design a policy that combines consent with access to information in a way that assures potential donors that their interests and moral concerns are being respected. C1 [De Vries, Raymond Gene; Krenz, Chris; Ryan, Kerry A.] Univ Michigan, Ctr Bioeth & Social Sci Med, Ann Arbor, MI 48109 USA. [Tomlinson, Tom] Michigan State Univ, Ctr Eth & Humanities Life Sci, E Lansing, MI 48824 USA. [Kim, Hyungjin Myra] Univ Michigan, Ctr Stat Consultat & Res, Ann Arbor, MI 48109 USA. [Haggerty, Diana] Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI 48824 USA. [Kim, Scott Y. H.] NIH, Ctr Clin, Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. [Kim, Scott Y. H.] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48109 USA. RP De Vries, RG (reprint author), Univ Michigan, Ctr Bioeth & Social Sci Med, Ann Arbor, MI 48109 USA. EM rdevries@med.umich.edu OI Krenz, Chris/0000-0002-0514-4586; De Vries, Raymond/0000-0003-3087-3040 FU National Human Genome Research Institute (NHGRI) [5R01HG007172] FX This research was funded by the National Human Genome Research Institute (NHGRI), grant number 5R01HG007172. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 30 TC 0 Z9 0 U1 1 U2 3 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 14 PY 2016 VL 11 IS 7 AR e0159113 DI 10.1371/journal.pone.0159113 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR0DZ UT WOS:000379579500079 PM 27415017 ER PT J AU Wang, TY Santos, JH Feng, J Fargo, DC Shen, L Riadi, G Keeley, E Rosh, ZS Nestler, EJ Woychik, RP AF Wang, Tianyuan Santos, Janine H. Feng, Jian Fargo, David C. Shen, Li Riadi, Gonzalo Keeley, Elizabeth Rosh, Zachary S. Nestler, Eric J. Woychik, Richard P. TI A Novel Analytical Strategy to Identify Fusion Transcripts between Repetitive Elements and Protein Coding-Exons Using RNA-Seq SO PLOS ONE LA English DT Article ID TRANSPOSABLE ELEMENTS; NUCLEUS-ACCUMBENS; GENE-EXPRESSION; CELLS; METHYLATION; ISOFORM; TOPHAT; BRAIN AB Repetitive elements (REs) comprise 40-60% of the mammalian genome and have been shown to epigenetically influence the expression of genes through the formation of fusion transcript (FTs). We previously showed that an intracisternal A particle forms an FT with the agouti gene in mice, causing obesity/type 2 diabetes. To determine the frequency of FTs genome-wide, we developed a TopHat-Fusion-based analytical pipeline to identify FTs with high specificity. We applied it to an RNA-seq dataset from the nucleus accumbens (NAc) of mice repeatedly exposed to cocaine. Cocaine was previously shown to increase the expression of certain REs in this brain region. Using this pipeline that can be applied to single- or paired-end reads, we identified 438 genes expressing 813 different FTs in the NAc. Although all types of studied repeats were present in FTs, simple sequence repeats were underrepresented. Most importantly, reverse-transcription and quantitative PCR validated the expression of selected FTs in an independent cohort of animals, which also revealed that some FTs are the prominent isoforms expressed in the NAc by some genes. In other RNA-seq datasets, developmental expression as well as tissue specificity of some FTs differed from their corresponding non-fusion counterparts. Finally, in silico analysis predicted changes in the structure of proteins encoded by some FTs, potentially resulting in gain or loss of function. Collectively, these results indicate the robustness of our pipeline in detecting these new isoforms of genes, which we believe provides a valuable tool to aid in better understanding the broad role of REs in mammalian cellular biology. C1 [Wang, Tianyuan; Santos, Janine H.; Fargo, David C.; Woychik, Richard P.] NIEHS, 111 TW Alexander Dr,Bldg 101, Res Triangle Pk, NC 27709 USA. [Feng, Jian; Shen, Li; Keeley, Elizabeth; Rosh, Zachary S.; Nestler, Eric J.] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, One Gustave L Levy Pl,Box 1065, New York, NY 10029 USA. [Feng, Jian; Shen, Li; Keeley, Elizabeth; Rosh, Zachary S.; Nestler, Eric J.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, One Gustave L Levy Pl,Box 1065, New York, NY 10029 USA. [Riadi, Gonzalo] Univ Talca, Fac Ingn, Dept Bioinformat, CBSM, Av 2 Norte 685, Talca 3465548, Chile. RP Woychik, RP (reprint author), NIEHS, 111 TW Alexander Dr,Bldg 101, Res Triangle Pk, NC 27709 USA.; Nestler, EJ (reprint author), Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, One Gustave L Levy Pl,Box 1065, New York, NY 10029 USA.; Nestler, EJ (reprint author), Icahn Sch Med Mt Sinai, Friedman Brain Inst, One Gustave L Levy Pl,Box 1065, New York, NY 10029 USA. EM eric.nestler@mssm.edu; rick.woychik@nih.gov FU Intramural Research Program of the NIH; [P01DA008227]; [Fondecyt 11140869] FX This research was supported by the Intramural Research Program of the NIH (RPW) and by grants P01DA008227 (EJN) and Fondecyt 11140869 (GR). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 36 TC 1 Z9 1 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 14 PY 2016 VL 11 IS 7 AR e0159028 DI 10.1371/journal.pone.0159028 PG 20 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR0DZ UT WOS:000379579500059 PM 27415830 ER PT J AU Davids, MS Kim, HT Bachireddy, P Costello, C Liguori, R Savell, A Lukez, AP Avigan, D Chen, YB McSweeney, P LeBoeuf, NR Rooney, MS Bowden, M Zhou, CSW Granter, SR Hornick, JL Rodig, SJ Hirakawa, M Severgnini, M Hodi, FS Wu, CJ Ho, VT Cutler, C Koreth, J Alyea, EP Antin, JH Armand, P Streicher, H Ball, ED Ritz, J Bashey, A Soiffer, RJ AF Davids, Matthew S. Kim, Haesook T. Bachireddy, Pavan Costello, Caitlin Liguori, Rebecca Savell, Alexandra Lukez, Alexander P. Avigan, David Chen, Yi-Bin McSweeney, Peter LeBoeuf, Nicole R. Rooney, Michael S. Bowden, Michaela Zhou, Chensheng W. Granter, Scott R. Hornick, Jason L. Rodig, Scott J. Hirakawa, Masahiro Severgnini, Mariano Hodi, F. Stephen Wu, Catherine J. Ho, Vincent T. Cutler, Corey Koreth, John Alyea, Edwin P. Antin, Joseph H. Armand, Philippe Streicher, Howard Ball, Edward D. Ritz, Jerome Bashey, Asad Soiffer, Robert J. CA Leukemia Lymphoma Soc Blood Canc R TI Ipilimumab for Patients with Relapse after Allogeneic Transplantation SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Article ID STEM-CELL TRANSPLANTATION; ACUTE MYELOID-LEUKEMIA; VERSUS-HOST-DISEASE; HEMATOLOGIC MALIGNANCIES; T-CELLS; BLOCKADE; CTLA-4; PATTERN; HLA AB BACKGROUND Loss of donor-mediated immune antitumor activity after allogeneic hematopoietic stem-cell transplantation (HSCT) permits relapse of hematologic cancers. We hypothesized that immune checkpoint blockade established by targeting cytotoxic T-lymphocyte-associated protein 4 with ipilimumab could restore antitumor reactivity through a graft-versus-tumor effect. METHODS We conducted a phase 1/1b multicenter, investigator-initiated study to determine the safety and efficacy of ipilimumab in patients with relapsed hematologic cancer after allogeneic HSCT. Patients received induction therapy with ipilimumab at a dose of 3 or 10 mg per kilogram of body weight every 3 weeks for a total of 4 doses, with additional doses every 12 weeks for up to 60 weeks in patients who had a clinical benefit. RESULTS A total of 28 patients were enrolled. Immune-related adverse events, including one death, were observed in 6 patients (21%), and graft-versus-host disease (GVHD) that precluded further administration of ipilimumab was observed in 4 patients (14%). No responses that met formal response criteria occurred in patients who received a dose of 3 mg per kilogram. Among 22 patients who received a dose of 10 mg per kilogram, 5 (23%) had a complete response, 2 (9%) had a partial response, and 6 (27%) had decreased tumor burden. Complete responses occurred in 4 patients with extramedullary acute myeloid leukemia and 1 patient with the myelodysplastic syndrome developing into acute myeloid leukemia. Four patients had a durable response for more than 1 year. Responses were associated with in situ infiltration of cytotoxic CD8+ T cells, decreased activation of regulatory T cells, and expansion of subpopulations of effector T cells in the blood. CONCLUSIONS Our early-phase data showed that administration of ipilimumab was feasible in patients with recurrent hematologic cancers after allogeneic HSCT, although immune-mediated toxic effects and GVHD occurred. Durable responses were observed in association with several histologic subtypes of these cancers, including extramedullary acute myeloid leukemia. C1 [Davids, Matthew S.; Kim, Haesook T.; Bachireddy, Pavan; Liguori, Rebecca; Savell, Alexandra; Lukez, Alexander P.; Hirakawa, Masahiro; Severgnini, Mariano; Hodi, F. Stephen; Wu, Catherine J.; Ho, Vincent T.; Cutler, Corey; Koreth, John; Alyea, Edwin P.; Antin, Joseph H.; Armand, Philippe; Ritz, Jerome; Soiffer, Robert J.] Dana Farber Canc Inst, Dept Med Oncol, 450 Brookline Ave, Boston, MA 02115 USA. [Davids, Matthew S.; Kim, Haesook T.; Bachireddy, Pavan; Liguori, Rebecca; Savell, Alexandra; Lukez, Alexander P.; Avigan, David; Chen, Yi-Bin; Hirakawa, Masahiro; Severgnini, Mariano; Hodi, F. Stephen; Wu, Catherine J.; Ho, Vincent T.; Cutler, Corey; Koreth, John; Alyea, Edwin P.; Antin, Joseph H.; Armand, Philippe; Ritz, Jerome; Soiffer, Robert J.] Harvard Med Sch, Boston, MA USA. [Avigan, David] Beth Israel Deaconess Med Ctr, Bone Marrow Transplant Program, Boston, MA 02215 USA. [Chen, Yi-Bin] Massachusetts Gen Hosp, Ctr Canc, Bone Marrow Transplant Program, Boston, MA USA. [LeBoeuf, Nicole R.] Dana Farber & Brigham & Womens Canc Ctr, Dept Dermatol, Boston, MA USA. [Granter, Scott R.; Hornick, Jason L.; Rodig, Scott J.] Dana Farber & Brigham & Womens Canc Ctr, Dept Pathol, Boston, MA USA. [Bowden, Michaela; Zhou, Chensheng W.] Dana Farber Canc Inst, Ctr Mol Oncol Pathol, Boston, MA 02115 USA. [Bachireddy, Pavan; Wu, Catherine J.] Broad Inst Massachusetts Inst Technol & Harvard, Cambridge, MA USA. [Rooney, Michael S.] Neon Therapeut, Cambridge, MA USA. [Costello, Caitlin; Ball, Edward D.] Univ Calif San Diego, Blood & Marrow Transplant Program, Moores Canc Ctr, La Jolla, CA 92093 USA. [McSweeney, Peter] Colorado Blood Canc Inst, Denver, CO USA. [Streicher, Howard] NCI, Canc Therapy Evaluat Program, Bethesda, MD 20892 USA. [Bashey, Asad] Northside Hosp, Blood & Marrow Transplant Grp Georgia, Atlanta, GA USA. RP Davids, MS (reprint author), Dana Farber Canc Inst, Dept Med Oncol, 450 Brookline Ave, Boston, MA 02115 USA. EM matthew_davids@dfci.harvard.edu FU National Institutes of Health FX Funded by the National Institutes of Health and others; ClinicalTrials.gov number, NCT01822509. NR 22 TC 17 Z9 17 U1 3 U2 6 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD JUL 14 PY 2016 VL 375 IS 2 BP 143 EP 153 DI 10.1056/NEJMoa1601202 PG 11 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9KY UT WOS:000379530000007 PM 27410923 ER PT J AU Panackal, AA Marr, KA Williamson, PR AF Panackal, Anil A. Marr, Kieren A. Williamson, Peter R. TI Dexamethasone in Cryptococcal Meningitis SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Letter ID GATTII C1 [Panackal, Anil A.; Williamson, Peter R.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Marr, Kieren A.] Johns Hopkins Med, Baltimore, MD USA. RP Panackal, AA (reprint author), NIH, Bldg 10, Bethesda, MD 20892 USA. EM anil.panackal@nih.gov NR 4 TC 0 Z9 0 U1 0 U2 1 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD JUL 14 PY 2016 VL 375 IS 2 BP 188 EP 188 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9KY UT WOS:000379530000022 PM 27410935 ER PT J AU Perkins, TA Paz-Soldan, VA Stoddard, ST Morrison, AC Forshey, BM Long, KC Halsey, ES Kochel, TJ Elder, JP Kitron, U Scott, TW Vazquez-Prokopec, GM AF Perkins, T. Alex Paz-Soldan, Valerie A. Stoddard, Steven T. Morrison, Amy C. Forshey, Brett M. Long, Kanya C. Halsey, Eric S. Kochel, Tadeusz J. Elder, John P. Kitron, Uriel Scott, Thomas W. Vazquez-Prokopec, Gonzalo M. TI Calling in sick: impacts of fever on infra-urban human mobility SO PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES LA English DT Article DE activity space; contact; dengue; infection; movement; network ID DENGUE VIRUS TRANSMISSION; HUMAN MOVEMENT; HUMAN-BEHAVIOR; INFECTIONS; IQUITOS; PERU; HYPOTHESIS; INFLUENZA; PATTERNS; MALARIA AB Pathogens inflict a wide variety of disease manifestations on their hosts, yet the impacts of disease on the behaviour of infected hosts are rarely studied empirically and are seldom accounted for in mathematical models of transmission dynamics. We explored the potential impacts of one of the most common disease manifestations, fever, on a key determinant of pathogen transmission, host mobility, in residents of the Amazonian city of Iquitos, Peru. We did so by comparing two groups of febrile individuals (dengue positive and dengue-negative) with an afebrile control group. A retrospective, semi-structured interview allowed us to quantify multiple aspects of mobility during the two-week period preceding each interview. We fitted nested models of each aspect of mobility to data from interviews and compared models using likelihood ratio tests to determine whether there were statistically distinguishable differences in mobility attributable to fever or its aetiology. Compared with afebrile individuals, febrile study participants spent more time at home, visited fewer locations, and, in some cases, visited locations closer to home and spent less time at certain types of locations. These multifaceted impacts are consistent with the possibility that disease mediated changes in host mobility generate dynamic and complex changes in host contact network structure. C1 [Perkins, T. Alex] Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA. [Perkins, T. Alex] Univ Notre Dame, Eck Inst Global Hlth, Notre Dame, IN 46556 USA. [Perkins, T. Alex; Stoddard, Steven T.; Morrison, Amy C.; Long, Kanya C.; Scott, Thomas W.] Univ Calif Davis, Dept Entomol & Nematol, Davis, CA 95616 USA. [Perkins, T. Alex; Kitron, Uriel; Scott, Thomas W.; Vazquez-Prokopec, Gonzalo M.] NIH, Fogarty Int Ctr, Bldg 10, Bethesda, MD 20892 USA. [Paz-Soldan, Valerie A.] Tulane Univ, Sch Publ Hlth & Trop Med, Dept Global Hlth Syst & Dev, New Orleans, LA USA. [Paz-Soldan, Valerie A.] Univ Peruana Cayetano Heredia, Fac Salud Publ & Adm, Lima, Peru. [Morrison, Amy C.; Forshey, Brett M.; Halsey, Eric S.; Kochel, Tadeusz J.] US Naval Med Res Unit No 6, Lima, Peru. [Long, Kanya C.] Andrews Univ, Dept Biol, Berrien Springs, MI 49104 USA. [Elder, John P.] San Diego State Univ, Grad Sch Publ Hlth, Inst Behav & Community Hlth, San Diego, CA 92182 USA. [Kitron, Uriel; Vazquez-Prokopec, Gonzalo M.] Emory Univ, Dept Environm Sci, Atlanta, GA 30322 USA. RP Perkins, TA (reprint author), Univ Notre Dame, Dept Biol Sci, Notre Dame, IN 46556 USA.; Perkins, TA (reprint author), Univ Notre Dame, Eck Inst Global Hlth, Notre Dame, IN 46556 USA.; Perkins, TA (reprint author), Univ Calif Davis, Dept Entomol & Nematol, Davis, CA 95616 USA.; Perkins, TA (reprint author), NIH, Fogarty Int Ctr, Bldg 10, Bethesda, MD 20892 USA. EM taperkins@nd.edu FU US National Institutes of Health-National Institute of Allergy and Infectious Diseases (NIFI/NIAID) [R01 AI069341-01, 1P01AI098670-01A1]; Research and Policy for Infectious Disease Dynamics (RAPIDD) program of the Science and Technology Directory, Department of Homeland Security, and Fogarty International Center, National Institutes of Health FX This research was supported by grants from the US National Institutes of Health-National Institute of Allergy and Infectious Diseases (NIFI/NIAID) awards R01 AI069341-01 and 1P01AI098670-01A1 (to T.W.S.) and by the Research and Policy for Infectious Disease Dynamics (RAPIDD) program of the Science and Technology Directory, Department of Homeland Security, and Fogarty International Center, National Institutes of Health. Authors E.S.H. and T.J.K. were US Military service members. This work was prepared as part of their official duties. Title 17 U.S.C. 105 provides that 'Copyright protection under this title is not available for any work of the United States Government.' Title 17 U.S.C. 101 defines a US Government work as a work prepared by military service members or employees of the US Government as part of those persons' official duties. NR 46 TC 0 Z9 0 U1 7 U2 7 PU ROYAL SOC PI LONDON PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND SN 0962-8452 EI 1471-2954 J9 P ROY SOC B-BIOL SCI JI Proc. R. Soc. B-Biol. Sci. PD JUL 13 PY 2016 VL 283 IS 1834 AR 20160390 DI 10.1098/rspb.2016.0390 PG 9 WC Biology; Ecology; Evolutionary Biology SC Life Sciences & Biomedicine - Other Topics; Environmental Sciences & Ecology; Evolutionary Biology GA DT7FI UT WOS:000381652100009 ER PT J AU Sheeler, CA AF Sheeler, Carrie A. TI The Influence of Systemic Immune Response and Sleep Modulation on the Secondary Effects of Traumatic Brain Injury in the Rodent Model SO JOURNAL OF NEUROSCIENCE LA English DT Editorial Material ID BARRIER; INFLAMMATION; HUMANS; REFLEX C1 [Sheeler, Carrie A.] NIMH, Sect Neuroadaptat & Prot Metab, Bldg 10,Room 2D54,10 Ctr Dr, Bethesda, MD 20892 USA. RP Sheeler, CA (reprint author), NIMH, Sect Neuroadaptat & Prot Metab, Bldg 10,Room 2D54,10 Ctr Dr, Bethesda, MD 20892 USA. EM carrie.sheeler@nih.gov NR 16 TC 1 Z9 1 U1 3 U2 3 PU SOC NEUROSCIENCE PI WASHINGTON PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA SN 0270-6474 J9 J NEUROSCI JI J. Neurosci. PD JUL 13 PY 2016 VL 36 IS 28 BP 7341 EP 7342 DI 10.1523/JNEUROSCI.1418-16.2016 PG 2 WC Neurosciences SC Neurosciences & Neurology GA DS1ST UT WOS:000380380500001 PM 27413144 ER PT J AU Aflaki, E Borger, DK Moaven, N Stubblefield, BK Rogers, SA Patnaik, S Schoenen, FJ Westbroek, W Zheng, W Sullivan, P Fujiwara, H Sidhu, R Khaliq, ZM Lopez, GJ Goldstein, DS Ory, DS Marugan, J Sidransky, E AF Aflaki, Elma Borger, Daniel K. Moaven, Nima Stubblefield, Barbara K. Rogers, Steven A. Patnaik, Samarjit Schoenen, Frank J. Westbroek, Wendy Zheng, Wei Sullivan, Patricia Fujiwara, Hideji Sidhu, Rohini Khaliq, Zayd M. Lopez, Grisel J. Goldstein, David S. Ory, Daniel S. Marugan, Juan Sidransky, Ellen TI A New Glucocerebrosidase Chaperone Reduces alpha-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism SO JOURNAL OF NEUROSCIENCE LA English DT Article DE alpha-synuclein; dopaminergic neurons; glucocerebrosidase; induced pluripotent stem cells; parkinsonism; pharmacological chaperone ID ENZYME REPLACEMENT THERAPY; MUTATIONS; CELLS; MANIFESTATIONS; MULTICENTER; DEFICIENCY; CARRIERS AB Among the known genetic risk factors for Parkinson disease, mutations in GBA1, the gene responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic link has directed attention to the role of the lysosome in the pathogenesis of parkinsonism. To study how glucocerebrosidase impacts parkinsonism and to evaluate new therapeutics, we generated induced human pluripotent stem cells from four patients with Type 1 (non-neuronopathic) Gaucher disease, two with and two without parkinsonism, and one patient with Type 2 (acute neuronopathic) Gaucher disease, and differentiated them into macrophages and dopaminergic neurons. These cells exhibited decreased glucocerebrosidase activity and stored the glycolipid substrates glucosylceramide and glucosylsphingosine, demonstrating their similarity to patients with Gaucher disease. Dopaminergic neurons from patients with Type 2 and Type 1 Gaucher disease with parkinsonism had reduced dopamine storage and dopamine transporter reuptake. Levels of alpha-synuclein, a protein present as aggregates in Parkinson disease and related synucleinopathies, were selectively elevated in neurons from the patients with parkinsonism or Type 2 Gaucher disease. The cells were then treated with NCGC607, a small-molecule noninhibitory chaperone of glucocerebrosidase identified by high-throughput screening and medicinal chemistry structure optimization. This compound successfully chaperoned the mutant enzyme, restored glucocerebrosidase activity and protein levels, and reduced glycolipid storage in both iPSC-derived macrophages and dopaminergic neurons, indicating its potential for treating neuronopathic Gaucher disease. In addition, NCGC607 reduced alpha-synuclein levels in dopaminergic neurons from the patients with parkinsonism, suggesting that noninhibitory small-molecule chaperones of glucocerebrosidase may prove useful for the treatment of Parkinson disease. C1 [Aflaki, Elma; Borger, Daniel K.; Moaven, Nima; Stubblefield, Barbara K.; Westbroek, Wendy; Lopez, Grisel J.; Sidransky, Ellen] NHGRI, Sect Mol Neurogenet, NIH, Bethesda, MD 20892 USA. [Patnaik, Samarjit; Zheng, Wei; Marugan, Juan] NINDS, Natl Ctr Adv Translat Sci, NIH, Bethesda, MD 20892 USA. [Sullivan, Patricia; Goldstein, David S.] NINDS, Clin Neurocardiol Sect, NIH, Bethesda, MD 20892 USA. [Khaliq, Zayd M.] NINDS, Cellular Neurophysiol Unit, NIH, Bethesda, MD 20892 USA. [Rogers, Steven A.; Schoenen, Frank J.] Univ Kansas, Specialized Chem Ctr, Lawrence, KS 66047 USA. [Fujiwara, Hideji; Sidhu, Rohini; Ory, Daniel S.] Washington Univ, Sch Med, Diabet Cardiovasc Dis Ctr, St Louis, MO 63110 USA. [Fujiwara, Hideji; Sidhu, Rohini; Ory, Daniel S.] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA. RP Sidransky, E (reprint author), NHGRI, Sect Mol Neurogenet, Med Genet Branch, NIH, Bldg 35,Room 1E623,35 Convent Dr,MSC 3708, Bethesda, MD 20892 USA. EM sidranse@mail.nih.gov RI Sidhu, Rohini/G-3547-2012; Zheng, Wei/J-8889-2014 OI Zheng, Wei/0000-0003-1034-0757 FU Intramural Research Programs of National Human Genome Research Institute, National Center for Advancing Translational Sciences, National Institute of Neurological Disorders and Stroke,; National Human Genome Research Institute [U54HG005031]; National Institutes of Health FX This work was supported by the Intramural Research Programs of the National Human Genome Research Institute, National Center for Advancing Translational Sciences, National Institute of Neurological Disorders and Stroke, and National Institutes of Health and in part by National Human Genome Research Institute Grant U54HG005031. NR 34 TC 9 Z9 9 U1 9 U2 12 PU SOC NEUROSCIENCE PI WASHINGTON PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA SN 0270-6474 J9 J NEUROSCI JI J. Neurosci. PD JUL 13 PY 2016 VL 36 IS 28 BP 7441 EP 7452 DI 10.1523/JNEUROSCI.0636-16.2016 PG 12 WC Neurosciences SC Neurosciences & Neurology GA DS1ST UT WOS:000380380500011 PM 27413154 ER PT J AU Smith, AA Navasa, N Yang, XL Wilder, CN Buyuktanir, O Marques, A Anguita, J Pal, U AF Smith, Alexis A. Navasa, Nicolas Yang, Xiuli Wilder, Cara N. Buyuktanir, Ozlem Marques, Adriana Anguita, Juan Pal, Utpal TI Cross-Species Interferon Signaling Boosts Microbicidal Activity within the Tick Vector SO CELL HOST & MICROBE LA English DT Article ID LYME-DISEASE SPIROCHETE; IXODES-SCAPULARIS; BORRELIA-BURGDORFERI; ANTIMICROBIAL PEPTIDES; STAT PROTEINS; IMMUNITY; DROSOPHILA; JAK; PATHWAY; GENES AB Evolution of hematophagy in blood-sucking parasites likely involves communication with their hosts. We find that Ixodes ticks are responsive to IFNg acquired in a blood meal from mice infected with the Lyme disease-causing bacteria Borrelia burgdorferi, leading to induction of antimicrobial responses. Ixodes ticks parasitizing B. burgdorferi-infected mice upregulated an I. scapularis Rho-like GTPase (IGTPase). IGTPase knockdown enhanced B. burgdorferi levels in postfed ticks, suggesting this protein controls spirochete survival. Notably, IGTPase was only induced during pathogen acquisition from mice and not upon transmission to naive hosts. Microinjection of ticks with IFNg induced IGTPase, and ticks parasitizing IFNg knockout mice, failed to upregulate IGTPase. Additionally, ticks lacking the transcription factor STAT, which signals downstream of IFNg, did not induce IGTPase. IGTPase expression induced antimicrobial peptides, including Dae2, previously shown to inhibit B. burgdorferi. These results identify an interspecies signaling cascade allowing ticks to detect invading bacteria and mount microbicidal responses. C1 [Smith, Alexis A.; Yang, Xiuli; Wilder, Cara N.; Pal, Utpal] Univ Maryland, Dept Vet Med, College Pk, MD 20742 USA. [Navasa, Nicolas; Anguita, Juan] CIC BioGUNE, Derio 48160, Bizkaia, Spain. [Buyuktanir, Ozlem] Ondokuz Mayis Univ, Dept Microbiol, Fac Vet Med, TR-55139 Samsun, Turkey. [Marques, Adriana] NIAID, Lab Clin Infect Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Anguita, Juan] Basque Fdn Sci, Ikerbasque, Bilbao 48011, Spain. [Pal, Utpal] Virginia Maryland Reg Coll Vet Med, College Pk, MD 20742 USA. RP Pal, U (reprint author), Univ Maryland, Dept Vet Med, College Pk, MD 20742 USA.; Pal, U (reprint author), Virginia Maryland Reg Coll Vet Med, College Pk, MD 20742 USA. EM upal@umd.edu RI Anguita, Juan/D-5432-2011 OI Anguita, Juan/0000-0003-2061-7182 FU University of Maryland, College Park; National Institute of Allergy and Infectious Diseases [AI080615, AI116620]; Ondokuz Mayis University; Turkish Higher Education Council; Intramural Research Program of the National Institute of Allergy and Infectious Disease; European Union [602272] FX We thank John Anderson, Toru Kariu, Faith Kung, Kavita Sharma, Brian Backstedt, Juraj Koci, and Meghna Thakur for their assistance with this study. We would like to thank Ulrike Munderloh, University of Minnesota, for providing the IDE12 cell line. This work was supported by funding from University of Maryland, College Park, and the National Institute of Allergy and Infectious Diseases Award Number AI080615 and AI116620 (to U.P.). O.B. is supported by funding from Ondokuz Mayis University and Turkish Higher Education Council. A.M. is supported by the Intramural Research Program of the National Institute of Allergy and Infectious Disease. J.A. is funded by the European Union (Grant Agreement number 602272). NR 27 TC 6 Z9 6 U1 2 U2 7 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1931-3128 EI 1934-6069 J9 CELL HOST MICROBE JI Cell Host Microbe PD JUL 13 PY 2016 VL 20 IS 1 BP 91 EP 98 DI 10.1016/j.chom.2016.06.001 PG 8 WC Microbiology; Parasitology; Virology SC Microbiology; Parasitology; Virology GA DS3UC UT WOS:000380707200013 PM 27374407 ER PT J AU Cho, YE Latour, LL Kim, H Turtzo, LC Olivera, A Livingston, WS Wang, D Martin, C Lai, C Cashion, A Gill, J AF Cho, Young-Eun Latour, Lawrence L. Kim, Hyungsuk Turtzo, L. Christine Olivera, Anlys Livingston, Whitney S. Wang, Dan Martin, Christiana Lai, Chen Cashion, Ann Gill, Jessica TI Older Age Results in Differential Gene Expression after Mild Traumatic Brain Injury and Is Linked to Imaging Differences at Acute Follow-up SO FRONTIERS IN AGING NEUROSCIENCE LA English DT Article DE traumatic brain injury; aging; inflammation; gene expression; imaging ID ACTIVATION; DISEASE; CELLS; TRANSCRIPTOME; INFLAMMATION; METAANALYSIS; MICROARRAY; PREDICTION; RECOVERY; CORTEX AB Older age consistently relates to a lesser ability to fully recover from a traumatic brain injury (TBI); however, there is limited data to explicate the nature of age-related risks. This study was undertaken to determine the relationship of age on gene-activity following a TBI, and how this biomarker relates to changes in neuroimaging findings. A young group (between the ages of 19 and 35 years), and an old group (between the ages of 60 and 89 years) were compared on global gene-activity within 48 h following a TBI, and then at follow-up within 1-week. At each time-point, gene expression profiles, and imaging findings from both magnetic resonance imaging (MRI) and computed tomography were obtained and compared. The young group was found to have greater gene expression of inflammatory regulatory genes at 48 h and 1-week in genes such as basic leucine zipper transcription factor 2 (BACH2), leucine-rich repeat neuronal 3 (LRRN3), and lymphoid enhancer-binding factor 1 (LEF1) compared to the old group. In the old group, there was increased activity in genes within S100 family, including calcium binding protein P (S100P) and S100 calcium binding protein A8 (S100A8), which previous studies have linked to poor recovery from TBI. The old group also had reduced activity of the noggin (NOG) gene, which is a member of the transforming growth factorT supertamily and is linked to neurorecovery and neuroregeneration compared to the young group. We link these gene expression findings that were validated to neuroimaging, reporting that in the old group with a MRI finding of TBI-related damage, there was a lesser likelihood to then have a negative MRI finding at follow-up compared to the young group. Together, these data indicate that age impacts gene activity following a TBI, and suggest that this differential activity related to immune regulation and neurorecovery contributes to a lesser likelihood of neuronal recovery in older patients as indicated through neuroimaging. C1 [Cho, Young-Eun; Kim, Hyungsuk; Olivera, Anlys; Livingston, Whitney S.; Wang, Dan; Martin, Christiana; Lai, Chen; Cashion, Ann; Gill, Jessica] NINR, NIH, Bethesda, MD 20892 USA. [Latour, Lawrence L.; Turtzo, L. Christine] Natl Inst Neurol Disorders, NIH, Bethesda, MD USA. RP Cashion, A; Gill, J (reprint author), NINR, NIH, Bethesda, MD 20892 USA. EM ann.cashion@nih.gov; gillj@mail.nih.gov OI Martin, Christiana/0000-0002-4484-6134 FU Intramural Research Program of National Institute of Nursing Research in NIH; Center for Neuroscience and Regenerative Medicine FX This research was supported by the Intramural Research Program of National Institute of Nursing Research in NIH. This research was also supported by the Center for Neuroscience and Regenerative Medicine. NR 66 TC 0 Z9 0 U1 2 U2 2 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1663-4365 J9 FRONT AGING NEUROSCI JI Front. Aging Neurosci. PD JUL 13 PY 2016 VL 8 AR 168 DI 10.3389/fnagi.2016.00168 PG 11 WC Geriatrics & Gerontology; Neurosciences SC Geriatrics & Gerontology; Neurosciences & Neurology GA DR6XH UT WOS:000380044100001 PM 27468266 ER PT J AU Fenwick, RB Schwieters, CD Vogeli, B AF Fenwick, R. Bryn Schwieters, Charles D. Vogeli, Beat TI Direct Investigation of Slow Correlated Dynamics in Proteins via Dipolar Interactions SO JOURNAL OF THE AMERICAN CHEMICAL SOCIETY LA English DT Article ID SMALL ALPHA/BETA PROTEIN; RESIDUAL DIPOLAR; CROSS-CORRELATION; NMR-SPECTROSCOPY; SUCCESSIVE RESIDUES; MOLECULAR-DYNAMICS; BACKBONE DYNAMICS; RELAXATION RATES; SCALAR COUPLINGS; SPIN RELAXATION AB The synchronization of native state motions as they transition between microstates influences catalysis kinetics, mediates allosteric interactions, and reduces the conformational entropy of proteins. However, it has proven difficult to describe native microstates because they are usually minimally frustrated and may interconvert on the micro- to millisecond time scale. Direct observation of concerted equilibrium fluctuations would therefore be an important tool for describing protein native states. Here we propose a strategy that relates NMR cross-correlated relaxation (CCR) rates between dipolar interactions to residual dipolar couplings (RDCs) of individual consecutive H-N-N and H-alpha-C-alpha bonds, which act as a proxy for the peptide planes and the side chains, respectively. Using Xplor-NIH ensemble structure calculations restrained with the RDC and CCR data, we observe collective motions on time scales slower than nanoseconds in the backbone for GB3. To directly access the correlations from CCR, we develop a structure-free data analysis. The resulting dynamic correlation map is consistent with the ensemble-restrained simulations and reveals a complex network. In general, we find that the bond motions are on average slightly correlated and that the local environment dominates many observations. Despite this, some patterns are typical over entire secondary structure elements. In the beta-sheet, nearly all bonds are weakly correlated, and there is an approximately binary alternation in correlation intensity corresponding to the solvent exposure/shielding alternation of the side chains. For alpha-helices, there is also a weak correlation in the H-N-N bonds. The degree of correlation involving H-alpha-C-alpha bonds is directly affected by side-chain fluctuations, whereas loops show complex and nonuniform behavior. C1 [Fenwick, R. Bryn] Inst Res Biomed IRB Barcelona, Parc Cient Barcelona,C Baldiri Reixac 10, Barcelona 08028, Spain. [Fenwick, R. Bryn] Scripps Res Inst TSRI, 10550 North Torrey Pines Rd, La Jolla, CA 92037 USA. [Schwieters, Charles D.] NIH, Div Computat Biosci, Ctr Informat Technol, Bldg 12A, Bethesda, MD 20892 USA. [Vogeli, Beat] ETH Honggerberg, Swiss Fed Inst Technol, Phys Chem Lab, Vladimir Prelog Weg 2, CH-8093 Zurich, Switzerland. RP Fenwick, RB (reprint author), Inst Res Biomed IRB Barcelona, Parc Cient Barcelona,C Baldiri Reixac 10, Barcelona 08028, Spain.; Fenwick, RB (reprint author), Scripps Res Inst TSRI, 10550 North Torrey Pines Rd, La Jolla, CA 92037 USA.; Vogeli, B (reprint author), ETH Honggerberg, Swiss Fed Inst Technol, Phys Chem Lab, Vladimir Prelog Weg 2, CH-8093 Zurich, Switzerland. EM fenwick@scripps.edu; beat.voegeli@phys.chem.ethz.ch OI Fenwick, Robert/0000-0002-0925-7422 FU Swiss National Science Foundation [140214]; Intramural Research Program of C.I.T, National Institutes of Health FX We thank Prof. Roland Riek, Dr. Jason Greenwald, Dr. Michael Sabo, and Dr. Donghan Lee for valuable discussion. We note that a similar correlation factor Fcorr has been presented by Dr. Donghan Lee at the Swiss Federal Institute of Technology and Dr. Michael Sabo at the 54th ENC conference 2013 in Asilomar. This work was supported by the Swiss National Science Foundation with Grant 140214 to B.V. and by the Intramural Research Program of C.I.T, National Institutes of Health, to C.D.S. NR 72 TC 0 Z9 0 U1 17 U2 17 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0002-7863 J9 J AM CHEM SOC JI J. Am. Chem. Soc. PD JUL 13 PY 2016 VL 138 IS 27 BP 8412 EP 8421 DI 10.1021/jacs.6b01447 PG 10 WC Chemistry, Multidisciplinary SC Chemistry GA DR3HN UT WOS:000379794400024 PM 27331619 ER PT J AU Bayro, MJ Tycko, R AF Bayro, Marvin J. Tycko, Robert TI Structure of the Dimerization Interface in the Mature HIV-1 Capsid Protein Lattice from Solid State NMR of Tubular Assemblies SO JOURNAL OF THE AMERICAN CHEMICAL SOCIETY LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; NUCLEAR-MAGNETIC-RESONANCE; CRYSTAL-STRUCTURE; MAS NMR; SPECTROSCOPY; DOMAIN; DYNAMICS; CONFORMATIONS; SIMULATION; FRAGMENT AB The HIV-1 capsid protein (CA) forms the capsid shell that encloses RNA within a mature HIV-1 virion. Previous studies by electron microscopy have shown that the capsid shell is primarily a triangular lattice of CA hexamers, with variable curvature that destroys the ideal symmetry of a planar lattice. The mature CA lattice depends on CA dimerization, which occurs through interactions between helix 9 segments of the C-terminal domain (CTD) of CA. Several high-resolution structures of the CTD-CTD dimerization interface have been reported, based on X-ray crystallography and multidimensional solution nuclear magnetic resonance (NMR), with significant differences in amino acid side chain conformations and helix 9-helix 9 orientations. In a structural model for tubular CA assemblies based on cryogenic electron microscopy (cryoEM) [Zhao et al. Nature, 2013, 497, 643-646], the dimerization interface is substantially disordered. The dimerization interface structure in noncrystalline CA assemblies and the extent to which this interface is structurally ordered within a curved lattice have therefore been unclear. Here we describe solid state NMR measurements on the dimerization interface in tubular CA assemblies, which contain the curved triangular lattice of a mature virion, including quantitative measurements of intermolecular and intramolecular distances using dipolar recoupling techniques, solid state NMR chemical shifts, and long-range side chain-side chain contacts. When combined with restraints on the distance and orientation between helix 9 segments from the cryoEM study, the solid state NMR data lead to a unique high-resolution structure for the dimerization interface in the noncrystalline lattice of CA tubes. These results demonstrate that CA lattice curvature is not dependent on disorder or variability in the dimerization interface. This work also demonstrates the feasibility of local structure determination within large noncrystalline assemblies formed by high-molecular weight proteins, using modern solid state NMR methods. C1 [Bayro, Marvin J.; Tycko, Robert] Natl Inst Diabet & Digest & Kidney Dis, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. RP Tycko, R (reprint author), Natl Inst Diabet & Digest & Kidney Dis, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. EM robertty@mail.nih.gov RI Bayro, Marvin/Q-4643-2016 OI Bayro, Marvin/0000-0003-1482-9381 FU Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health; NIH Intramural AIDS Targeted Antiviral Program FX This work was supported by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health, and by the NIH Intramural AIDS Targeted Antiviral Program. We thank Dr. Eric Moore for assistance with simulations of NMR data and Drs. Charles Schwieters and Guillermo Bermejo for assistance with Xplor-NIH calculations. NR 46 TC 2 Z9 2 U1 11 U2 23 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0002-7863 J9 J AM CHEM SOC JI J. Am. Chem. Soc. PD JUL 13 PY 2016 VL 138 IS 27 BP 8538 EP 8546 DI 10.1021/jacs.6b03983 PG 9 WC Chemistry, Multidisciplinary SC Chemistry GA DR3HN UT WOS:000379794400038 PM 27298207 ER PT J AU Darbinyan, A Major, EO Morgello, S Holland, S Ryschkewitsch, C Monaco, MC Naidich, TP Bederson, J Malaczynska, J Ye, F Gordon, R Cunningham-Rundles, C Fowkes, M Tsankova, NM AF Darbinyan, Armine Major, Eugene O. Morgello, Susan Holland, Steven Ryschkewitsch, Caroline Monaco, Maria Chiara Naidich, Thomas P. Bederson, Joshua Malaczynska, Joanna Ye, Fei Gordon, Ronald Cunningham-Rundles, Charlotte Fowkes, Mary Tsankova, Nadejda M. TI BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency SO ACTA NEUROPATHOLOGICA COMMUNICATIONS LA English DT Article DE Polyomavirus; BK virus; IKK-gamma; NF-kappa-B essential modulator (NEMO); Ectodermal dysplasia; HED-ID; Encephalopathy; Fibrosing vasculopathy ID PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY; NONCODING CONTROL REGION; CENTRAL-NERVOUS-SYSTEM; INCONTINENTIA PIGMENTI; JC VIRUS; POLYOMAVIRUS BK; TRANSPLANT RECIPIENTS; PRODUCTIVE INFECTION; CEREBROSPINAL-FLUID; FUNCTIONAL-ANALYSIS AB Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. Brain biopsy demonstrated polyomavirus infection of gray and white matter, with predominant involvement of cortex and distinct neuronal tropism, in addition to limited demyelination and oligodendroglial inclusions. Immunohistochemistry demonstrated polyoma T-antigen in neurons and glia, but expression of VP1 capsid protein only in glia. PCR analysis on both brain biopsy tissue and cerebrospinal fluid detected high levels of BKV DNA. Sequencing studies further identified novel BKV variant and disclosed unique rearrangements in the noncoding control region of the viral DNA (BKVN NCCR). Neuropathological analysis also demonstrated an unusual form of obliterative fibrosing vasculopathy in the subcortical white matter with abnormal lysosomal accumulations, possibly related to the patient's underlying ectodermal dysplasia. Our report provides the first neuropathological description of HED-ID due to NEMO mutation, and expands the diversity of neurological presentations of BKV infection in brain, underscoring the importance of its consideration in immunodeficient patients with unexplained encephalopathy. We also document novel BKVN NCCR rearrangements that may be associated with the unique neuronal tropism in this patient. C1 [Darbinyan, Armine; Morgello, Susan; Malaczynska, Joanna; Ye, Fei; Gordon, Ronald; Fowkes, Mary; Tsankova, Nadejda M.] Icahn Sch Med Mt Sinai, Dept Pathol, New York, NY 10029 USA. [Major, Eugene O.; Ryschkewitsch, Caroline; Monaco, Maria Chiara] NINDS, Lab Mol Med & Neurosci, NIH, Bethesda, MD 20892 USA. [Morgello, Susan] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA. [Morgello, Susan; Tsankova, Nadejda M.] Icahn Sch Med Mt Sinai, Dept Neurosci, 1425 Madison Ave,Icahn 9-20E, New York, NY 10029 USA. [Morgello, Susan; Tsankova, Nadejda M.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, 1425 Madison Ave,Icahn 9-20E, New York, NY 10029 USA. [Holland, Steven] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Naidich, Thomas P.] Icahn Sch Med Mt Sinai, Dept Radiol, New York, NY 10029 USA. [Bederson, Joshua] Icahn Sch Med Mt Sinai, Dept Neurosurg, New York, NY 10029 USA. [Cunningham-Rundles, Charlotte] Icahn Sch Med Mt Sinai, Dept Med Allergy & Immunol, New York, NY 10029 USA. RP Tsankova, NM (reprint author), Icahn Sch Med Mt Sinai, Dept Pathol, New York, NY 10029 USA.; Tsankova, NM (reprint author), Icahn Sch Med Mt Sinai, Dept Neurosci, 1425 Madison Ave,Icahn 9-20E, New York, NY 10029 USA.; Tsankova, NM (reprint author), Icahn Sch Med Mt Sinai, Friedman Brain Inst, 1425 Madison Ave,Icahn 9-20E, New York, NY 10029 USA. EM nadejda.tsankova@mssm.edu NR 59 TC 0 Z9 0 U1 1 U2 1 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 2051-5960 J9 ACTA NEUROPATHOL COM JI Acta Neuropathol. Commun. PD JUL 13 PY 2016 VL 4 AR 73 DI 10.1186/s40478-016-0342-3 PG 11 WC Neurosciences SC Neurosciences & Neurology GA DQ9IU UT WOS:000379524400001 PM 27411570 ER PT J AU Xu, BB Luo, ZP Wilson, AJ Chen, K Gao, WX Yuan, GL Chopra, HD Chen, X Willets, KA Dauter, Z Ren, SQ AF Xu, Beibei Luo, Zhipu Wilson, Andrew J. Chen, Ke Gao, Wenxiu Yuan, Guoliang Chopra, Harsh Deep Chen, Xing Willets, Katherine A. Dauter, Zbigniew Ren, Shenqiang TI Multifunctional Charge-Transfer Single Crystals through Supramolecular Assembly SO ADVANCED MATERIALS LA English DT Article ID TETRACYANOQUINODIMETHANE TTF-TCNQ; TRANSFER COMPLEXES; TRANSFER INTERFACES; ELECTRON-TRANSFER; TRANSFER SALT; MULTIFERROICITY; FERROELECTRICITY; SEMICONDUCTOR; CONDUCTIVITY; MAGNETISM AB Centimeter-sized segregated stacking TTF-C-60 single crystals are crystallized by a mass-transport approach combined with solvent-vapor evaporation for the first time. The intermolecular charge-transfer interaction in the long-range ordered superstructure enables the crystals to demonstrate external stimuli-controlled multifunctionalities and angle/electrical-potential-dependent luminescence. C1 [Xu, Beibei; Chopra, Harsh Deep; Ren, Shenqiang] Temple Univ, Dept Mech Engn, Temple Mat Inst, Philadelphia, PA 19122 USA. [Luo, Zhipu; Dauter, Zbigniew] Argonne Natl Lab, Synchrotron Radiat Res Sect, Macromol Crystallog Lab, Natl Canc Inst, 9700 S Cass Ave, Argonne, IL 60439 USA. [Wilson, Andrew J.; Willets, Katherine A.] Temple Univ, Dept Chem, Philadelphia, PA 19122 USA. [Chen, Ke] Temple Univ, Dept Phys, Temple Mat Inst, Philadelphia, PA 19122 USA. [Gao, Wenxiu; Yuan, Guoliang] Nanjing Univ Sci Technol, Sch Mat Sci & Engn, Nanjing 210094, Jiangsu, Peoples R China. [Chen, Xing] Argonne Natl Lab, Div Energy Syst, 9700 S Cass Ave, Argonne, IL 60439 USA. RP Ren, SQ (reprint author), Temple Univ, Dept Mech Engn, Temple Mat Inst, Philadelphia, PA 19122 USA. EM shenqiang.ren@temple.edu OI Wilson, Andrew/0000-0003-3427-810X FU Army Research Office, Young Investigator Program [W911NF-15-1-0610]; U.S. Department of Energy, Basic Energy Sciences Award [DE-FG02-13ER46937]; Department of Energy (DOE), Office of Science, Basic Energy Science (BES) [DE-SC0010307]; National Science Foundation DMR , Condensed Matter Physics [1541236]; Temple University's OVPR's Infrastructure Grant; U.S. Department of Energy, Office of Science, Office of Basic Energy Sciences [W-31-109-Eng-38] FX Work at Temple University (S.R.) was supported by the Army Research Office, Young Investigator Program (W911NF-15-1-0610, material design/self-assembly of carbon photovoltaics), and the U.S. Department of Energy, Basic Energy Sciences Award No. DE-FG02-13ER46937 (organic synthesis and physical property measurement). Work at Temple University (A.J.W. and K.A.W.) was supported by the Department of Energy (DOE), Office of Science, Basic Energy Science (BES) under Award No. DE-SC0010307. H.D.C. gratefully acknowledges support from the National Science Foundation DMR, Condensed Matter Physics under Grant No. 1541236 (previously Grant No. 1309712) and Temple University's OVPR's Infrastructure Grant. Diffraction data were collected at the SER-CAT beamline 22BM at the Advanced Photon Source, Argonne National Laboratory. Use of the Advanced Photon Source was supported by the U.S. Department of Energy, Office of Science, Office of Basic Energy Sciences, under Contract No. W-31-109-Eng-38. The authors also thank Temple Materials Institute and Dr. X. Xi for the AFM measurements. NR 48 TC 0 Z9 0 U1 24 U2 61 PU WILEY-V C H VERLAG GMBH PI WEINHEIM PA POSTFACH 101161, 69451 WEINHEIM, GERMANY SN 0935-9648 EI 1521-4095 J9 ADV MATER JI Adv. Mater. PD JUL 13 PY 2016 VL 28 IS 26 BP 5322 EP + DI 10.1002/adma.201600383 PG 9 WC Chemistry, Multidisciplinary; Chemistry, Physical; Nanoscience & Nanotechnology; Materials Science, Multidisciplinary; Physics, Applied; Physics, Condensed Matter SC Chemistry; Science & Technology - Other Topics; Materials Science; Physics GA DR5JH UT WOS:000379938800024 PM 27146726 ER PT J AU Auslander, N Yizhak, K Weinstock, A Budhu, A Tang, W Wang, XW Ambs, S Ruppin, E AF Auslander, Noam Yizhak, Keren Weinstock, Adam Budhu, Anuradha Tang, Wei Wang, Xin Wei Ambs, Stefan Ruppin, Eytan TI A joint analysis of transcriptomic and metabolomic data uncovers enhanced enzyme-metabolite coupling in breast cancer SO SCIENTIFIC REPORTS LA English DT Article ID HEPATOCELLULAR-CARCINOMA; LIPID-METABOLISM; PROSTATE-CANCER; EXPRESSION; INTEGRATION; TUMORS; CLASSIFICATION; DYSREGULATION; ACCUMULATION; PROGRESSION AB Disrupted regulation of cellular processes is considered one of the hallmarks of cancer. We analyze metabolomic and transcriptomic profiles jointly collected from breast cancer and hepatocellular carcinoma patients to explore the associations between the expression of metabolic enzymes and the levels of the metabolites participating in the reactions they catalyze. Surprisingly, both breast cancer and hepatocellular tumors exhibit an increase in their gene-metabolites associations compared to noncancerous adjacent tissues. Following, we build predictors of metabolite levels from the expression of the enzyme genes catalyzing them. Applying these predictors to a large cohort of breast cancer samples we find that depleted levels of key cancer-related metabolites including glucose, glycine, serine and acetate are significantly associated with improved patient survival. Thus, we show that the levels of a wide range of metabolites in breast cancer can be successfully predicted from the transcriptome, going beyond the limited set of those measured. C1 [Auslander, Noam; Ruppin, Eytan] Univ Maryland, Ctr Bioinformat & Computat Biol, College Pk, MD 20742 USA. [Auslander, Noam; Ruppin, Eytan] Univ Maryland, Dept Comp Sci, College Pk, MD 20742 USA. [Yizhak, Keren; Weinstock, Adam; Ruppin, Eytan] Tel Aviv Univ, Blavatnik Sch Comp Sci, IL-69978 Tel Aviv, Israel. [Budhu, Anuradha; Wang, Xin Wei] NCI, Liver Carcinogenesis Sect, Human Carcinogenesis Lab, Ctr Canc Res, Bethesda, MD 20892 USA. [Tang, Wei; Ambs, Stefan] NCI, Mol Epidemiol Sect, Human Carcinogenesis Lab, NIH, Bethesda, MD 20892 USA. [Ruppin, Eytan] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel. RP Auslander, N; Ruppin, E (reprint author), Univ Maryland, Ctr Bioinformat & Computat Biol, College Pk, MD 20742 USA.; Auslander, N; Ruppin, E (reprint author), Univ Maryland, Dept Comp Sci, College Pk, MD 20742 USA.; Yizhak, K; Ruppin, E (reprint author), Tel Aviv Univ, Blavatnik Sch Comp Sci, IL-69978 Tel Aviv, Israel.; Ruppin, E (reprint author), Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel. EM noamaus@gmail.com; kerenyiz@post.tau.ac.il; eyruppin@gmail.com RI Wang, Xin/B-6162-2009 NR 43 TC 0 Z9 0 U1 7 U2 8 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD JUL 13 PY 2016 VL 6 AR 29662 DI 10.1038/srep29662 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR0EB UT WOS:000379579700001 PM 27406679 ER PT J AU Ganapathi, KA Jobanputra, V Iwamoto, F Jain, P Chen, JL Cascione, L Nahum, O Levy, B Xie, Y Khattar, P Hoehn, D Bertoni, F Murty, VV Pittaluga, S Jaffe, ES Alobeid, B Mansukhani, MM Bhagat, G AF Ganapathi, Karthik A. Jobanputra, Vaidehi Iwamoto, Fabio Jain, Preti Chen, Jinli Cascione, Luciano Nahum, Odelia Levy, Brynn Xie, Yi Khattar, Pallavi Hoehn, Daniela Bertoni, Francesco Murty, Vundavalli V. Pittaluga, Stefania Jaffe, Elaine S. Alobeid, Bachir Mansukhani, Mahesh M. Bhagat, Govind TI The genetic landscape of dural marginal zone lymphomas SO ONCOTARGET LA English DT Article DE dural marginal zone lymphoma; genome; mutations; TNFAIP3; NOTCH2 ID B-CELL LYMPHOMA; NF-KAPPA-B; RECURRENT MUTATIONS; CODING GENOME; NOTCH2; A20; ACTIVATION; PATHWAY; MALT AB The dura is a rare site of involvement by marginal zone lymphoma (MZL) and the biology of dural MZL is not well understood. We performed genome-wide DNA copy number and targeted mutational analysis of 14 dural MZL to determine the genetic landscape of this entity. Monoallelic and biallelic inactivation of TNFAIP3 by mutation (n=5) or loss (n=1) was observed in 6/9 (67%) dural MZL exhibiting plasmacytic differentiation, including 3 IgG4+ cases. In contrast, activating NOTCH2 mutations were detected in 4/5 (80%) dural MZL displaying variable monocytoid morphology. Inactivating TBL1XR1 mutations were identified in all NOTCH2 mutated cases. Recurrent mutations in KLHL6 (n=2) and MLL2 (n=2) were also detected. Gains at 6p25.3 (n=2) and losses at 1p36.32 (n=3) were common chromosomal imbalances, with loss of heterozygosity (LOH) of these loci observed in a subset of cases. Translocations involving the IGH or MALT1 genes were not identified. Our results indicate genetic similarities between dural MZL and other MZL subtypes. However, recurrent and mutually exclusive genetic alterations of TNFAIP3 and NOTCH2 appear to be associated with distinct disease phenotypes in dural MZL. C1 [Ganapathi, Karthik A.; Jobanputra, Vaidehi; Jain, Preti; Chen, Jinli; Nahum, Odelia; Levy, Brynn; Hoehn, Daniela; Murty, Vundavalli V.; Alobeid, Bachir; Mansukhani, Mahesh M.; Bhagat, Govind] Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY 10027 USA. [Iwamoto, Fabio] Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA. [Cascione, Luciano; Bertoni, Francesco] Oncol Res Inst, Bellinzona, Switzerland. [Cascione, Luciano; Bertoni, Francesco] Oncol Inst Southern Switzerland, Bellinzona, Switzerland. [Xie, Yi; Pittaluga, Stefania; Jaffe, Elaine S.] NCI, Hematopathol Sect, Pathol Lab, Bethesda, MD 20892 USA. [Khattar, Pallavi] New York Med Coll, Dept Pathol, Valhalla, NY 10595 USA. RP Mansukhani, MM; Bhagat, G (reprint author), Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY 10027 USA. EM mm322@cumc.columbia.edu; gb96@cumc.columbia.edu OI Bhagat, Govind/0000-0001-6250-048X NR 35 TC 0 Z9 0 U1 1 U2 1 PU IMPACT JOURNALS LLC PI ALBANY PA 6211 TIPTON HOUSE, STE 6, ALBANY, NY 12203 USA SN 1949-2553 J9 ONCOTARGET JI Oncotarget PD JUL 12 PY 2016 VL 7 IS 28 BP 43052 EP 43061 DI 10.18632/oncotarget.9678 PG 10 WC Oncology; Cell Biology SC Oncology; Cell Biology GA DY8QU UT WOS:000385395700017 PM 27248180 ER PT J AU Mocsar, G Volko, J Ronnlund, D Widengren, J Nagy, P Szollosi, J Toth, K Goldman, CK Damjanovich, S Waldmann, TA Bodnar, A Vamosi, G AF Mocsar, Gabor Volko, Julianna Ronnlund, Daniel Widengren, Jerker Nagy, Peter Szollosi, Janos Toth, Katalin Goldman, Carolyn K. Damjanovich, Sandor Waldmann, Thomas A. Bodnar, Andrea Vamosi, Gyorgy TI MHC I Expression Regulates Co-clustering and Mobility of Interleukin-2 and-15 Receptors in T Cells SO BIOPHYSICAL JOURNAL LA English DT Article ID RESONANCE ENERGY-TRANSFER; HLA CLASS-I; FLUORESCENCE CORRELATION SPECTROSCOPY; HUMAN LYMPHOBLASTOID-CELLS; PLASMA-MEMBRANE; MONOCLONAL-ANTIBODY; IL-2 RECEPTOR; INSULIN-RECEPTORS; LYMPHOMA-CELLS; LIPID RAFTS AB MHC glycoproteins form supramolecular clusters with interleukin-2 and -15 receptors in lipid rafts of T cells. The role of highly expressed MHC I in maintaining these clusters is unknown. We knocked down MHC I in FT7.10 human T cells, and studied protein clustering at two hierarchic levels: molecular aggregations and mobility by Forster resonance energy transfer and fluorescence correlation spectroscopy; and segregation into larger domains or superclusters by superresolution stimulated emission depletion microscopy. Fluorescence correlation spectroscopy-based molecular brightness analysis revealed that the studied molecules diffused as tight aggregates of several proteins of a kind. Knockdown reduced the number of MHC I containing molecular aggregates and their average MHC I content, and decreased the heteroassociation of MHC I with IL-2R alpha/IL-15R alpha. The mobility of not only MHC I but also that of IL-2R alpha/IL-15R alpha increased, corroborating the general size decrease of tight aggregates. A multifaceted analysis of stimulated emission depletion images revealed that the diameter of MHC I superclusters diminished from 400-600 to 200-300 nm, whereas those of IL-2R alpha/IL-15R alpha hardly changed. MHC I and IL-2R alpha/IL-15R alpha colocalized with GM1 ganglioside-rich lipid rafts, but MHC I clusters retracted to smaller subsets of GM1-and IL-2R alpha/IL-15R alpha-rich areas upon knockdown. Our results prove that changes in expression level may significantly alter the organization and mobility of interacting membrane proteins. C1 [Mocsar, Gabor; Volko, Julianna; Nagy, Peter; Szollosi, Janos; Damjanovich, Sandor; Bodnar, Andrea; Vamosi, Gyorgy] Univ Debrecen, Fac Med, Dept Biophys & Cell Biol, Debrecen, Hungary. [Ronnlund, Daniel; Widengren, Jerker] Albanova Univ Ctr, Royal Inst Technol, Dept Appl Phys Expt Biomol Phys, Stockholm, Sweden. [Szollosi, Janos] Hungarian Acad Sci, Cell Biol & Signaling Res Grp, Debrecen, Hungary. [Szollosi, Janos] Univ Debrecen, Debrecen, Hungary. [Toth, Katalin] German Canc Res Ctr, Biophys Macromol, Heidelberg, Germany. [Goldman, Carolyn K.; Waldmann, Thomas A.] NCI, Lymphoid Malignancies Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Vamosi, G (reprint author), Univ Debrecen, Fac Med, Dept Biophys & Cell Biol, Debrecen, Hungary. EM vamosig@med.unideb.hu RI Nagy, Peter/D-2188-2013; OI Nagy, Peter/0000-0002-7466-805X; Widengren, Jerker/0000-0003-3200-0374 FU Hungarian Scientific Research Fund [K103965, K103906, NK101337]; Intramural Research Program of the National Cancer Institute, National Institutes of Health; TAMOP grant [4.2.2.-08/1-2008-0019]; "MOLMEDREX'' FP7-REGPOT-1 grant [229920]; Tempus Public Foundation Hungary [73163]; Internal Research Program of the University of Debrecen grant [RH/885/2013]; Jedlik Anyos Fellowship grant [A2-JADJ-13-0170]; New Hungary Development Plan - European Social Fund [TAMOP-4.2.2.A-11/1/KONV-2012-0023 VED-ELEM, TAMOP-4.2.2.D-15/1/KONV-2015-0016]; European Regional Development Fund; European Union; State of Hungary; German Academic Exchange Service; European Social Fund [TAMOP-4.2.4.A/2-11/1-20120001] FX This work was supported by Hungarian Scientific Research Fund grant No. K103965 to G.V., grant No. K103906 to P.N., and grant No. NK101337 to J.S.; the Intramural Research Program of the National Cancer Institute, National Institutes of Health to T.A.W.; TAMOP grant No. 4.2.2.-08/1-2008-0019 to G.V.; "MOLMEDREX'' FP7-REGPOT-2008-1 grant No. 229920 to G.V.; German Academic Exchange Service and Tempus Public Foundation Hungary grant No. 73163 to G.V. and K.T.; Internal Research Program of the University of Debrecen grant No. RH/885/2013 to A.B.; Jedlik Anyos Fellowship grant No. A2-JADJ-13-0170 to G.M.; TAMOP-4.2.2.A-11/1/KONV-2012-0023 VED-ELEM and TAMOP-4.2.2.D-15/1/KONV-2015-0016 grants implemented through the New Hungary Development Plan cofinanced by the European Social Fund and the European Regional Development Fund to G.V. and J.S.; and the European Union and the State of Hungary, cofinanced by the European Social Fund in the framework of TAMOP-4.2.4.A/2-11/1-20120001 National Excellence Program to G.V. NR 77 TC 1 Z9 1 U1 3 U2 6 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0006-3495 EI 1542-0086 J9 BIOPHYS J JI Biophys. J. PD JUL 12 PY 2016 VL 111 IS 1 BP 100 EP 112 DI 10.1016/j.bpj.2016.05.044 PG 13 WC Biophysics SC Biophysics GA DS1QN UT WOS:000380371400013 PM 27410738 ER PT J AU Collins, FS AF Collins, Francis S. TI Seeking a Cure for One of the Rarest Diseases: Progeria SO CIRCULATION LA English DT Editorial Material DE Editorials; everolimus; lamin type A; lonafarnib; morpholinos; progeria; rare diseases; translational medical research ID HUTCHINSON-GILFORD-PROGERIA C1 [Collins, Francis S.] NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA. RP Collins, FS (reprint author), NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA. EM francis.collins3@nih.gov NR 19 TC 1 Z9 1 U1 9 U2 10 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0009-7322 EI 1524-4539 J9 CIRCULATION JI Circulation PD JUL 12 PY 2016 VL 134 IS 2 BP 126 EP 129 DI 10.1161/CIRCULATIONAHA.116.022965 PG 4 WC Cardiac & Cardiovascular Systems; Peripheral Vascular Disease SC Cardiovascular System & Cardiology GA DR8EA UT WOS:000380130000010 PM 27400897 ER PT J AU Amar, MJA Kaler, M Courville, AB Shamburek, R Sampson, M Remaley, AT AF Amar, Marcelo J. A. Kaler, Maryann Courville, Amber B. Shamburek, Robert Sampson, Maureen Remaley, Alan T. TI Randomized double blind clinical trial on the effect of oral alpha-cyclodextrin on serum lipids SO LIPIDS IN HEALTH AND DISEASE LA English DT Article DE alpha-cyclodextrin; TC; Total cholesterol; TG; Triglycerides; LIRI; Lipoprotein Insulin Resistance Index; LDL-C; Low density lipoprotein cholesterol; HDL-C; High density lipoprotein cholesterol; BAS; Bile acid sequestrants ID DENSITY-LIPOPROTEIN PARTICLES; TO-RETENTION HYPOTHESIS; BILE-ACID SEQUESTRANTS; INSULIN-RESISTANCE; DIETARY FIBER; CHOLESTEROL; DISEASE; RATS; ATHEROGENESIS; TRIGLYCERIDE AB Background: This single center, double-blinded, cross-over, placebo controlled clinical trial investigated the effect of oral a-cyclodextrin (alpha-CD), a soluble dietary fiber, on blood lipid and lipoprotein levels in healthy human subjects. alpha-CD, a cyclical polymer containing 6 glucose subunits, is currently sold as an over the counter food supplement and is also a common additive in many foods. alpha-CD forms a hydrophobic central cavity that binds lipids and has been shown in animal studies and in previous clinical trials to alter plasma lipid levels. Methods: We screened for healthy subjects, males and females, between ages 18 to 75. Out of total 103 subjects interviewed, 75 subjects completed the study. Qualified individuals in each gender group were randomized into two groups in terms of which treatment arm they received first (placebo vs. alpha-CD, receiving 6 grams P.O. a day, for 12-14 weeks with a 7 day wash out between arms). The primary outcome variable, plasma total cholesterol, as well as other tests related to lipids and lipoprotein and glucose metabolism, were measured at baseline and at the end of each arm of the study. Results: alpha-CD was well tolerated; no serious adverse events related to alpha-CD were observed. Approximately 8 % of the subjects on alpha-CD complained of minor gastrointestinal symptoms versus 3 % on placebo (p = 0.2). Small-LDL particle number decreased 10 % (p < 0.045) for subjects on alpha-CD versus placebo. Fasting plasma glucose (1.6 %, p < 0.05) and Insulin resistance index (11 %, p < 0.04) were also decreased when on alpha-CD versus placebo. Conclusion: alpha-CD treatment appears to be safe and well tolerated in healthy individuals and showed a modest reduction in small LDL particles, and an improvement in glucose related parameters. C1 [Amar, Marcelo J. A.; Kaler, Maryann; Courville, Amber B.; Shamburek, Robert; Sampson, Maureen; Remaley, Alan T.] NHLBI, Lipoprot Metab Sect, Cardiopulm Branch, NIH, Bldg 10,Room 8 N-228,10 Ctr Dr MSC 1666, Bethesda, MD 20892 USA. RP Amar, MJA (reprint author), NHLBI, Lipoprot Metab Sect, Cardiopulm Branch, NIH, Bldg 10,Room 8 N-228,10 Ctr Dr MSC 1666, Bethesda, MD 20892 USA. EM ma90x@nih.gov FU Intramural Research Program of the National Institutes of Health [National Heart, Lung, and Blood Institute] FX This research was supported by Intramural Research Program of the National Institutes of Health [National Heart, Lung, and Blood Institute]. NR 34 TC 2 Z9 2 U1 1 U2 3 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1476-511X J9 LIPIDS HEALTH DIS JI Lipids Health Dis. PD JUL 12 PY 2016 VL 15 AR 115 DI 10.1186/s12944-016-0284-6 PG 8 WC Biochemistry & Molecular Biology; Nutrition & Dietetics SC Biochemistry & Molecular Biology; Nutrition & Dietetics GA DR6FE UT WOS:000379996800001 PM 27405337 ER PT J AU Watters, SA Mlcochova, P Maldarelli, F Goonetilleke, N Pillay, D Gupta, RK AF Watters, Sarah A. Mlcochova, Petra Maldarelli, Frank Goonetilleke, Nilu Pillay, Deenan Gupta, Ravindra K. TI Sequential CCR5-Tropic HIV-1 Reactivation from Distinct Cellular Reservoirs following Perturbation of Elite Control SO PLOS ONE LA English DT Article ID ACTIVE ANTIRETROVIRAL THERAPY; T-CELLS; CORECEPTOR USAGE; PHYLOGENIES; DISCONTINUATION; IDENTIFICATION; REPLICATION; MACROPHAGES; PREDICTION AB Background HIV Elite Controllers may reveal insights into virus persistence given they harbour small reservoir sizes, akin to HIV non-controllers treated early with combination antiretroviral therapy. Both groups of patients represent the most promising candidates for interventions aimed at sustained remission or 'cure'. Analytic treatment interruption (ATI) in the latter group leads to stochastic rebound of virus, though it is unclear whether loss of elite control is also associated with similar rebound characteristics. Methods We studied three discrete periods of virus rebound during myeloma related immune disruption over 2.5 years in an elite controller who previously underwent autologous stem cell transplantation (ASCT) in the absence of any antiretroviral therapy. Single genome sequencing of the V1-V4 region of env in PBMC and plasma was performed and phylogenies reconstructed. Average pairwise distance (APD) was calculated and non-parametric methods used to assess compartmentalisation. Coreceptor usage was predicted based on genotypic algorithms. Results 122 single genome sequences were obtained (median 26 sequences per rebound). The initial rebounding plasma env sequences following ASCT represented two distinct lineages, and clustered with proviral DNA sequences isolated prior to ASCT. One of the lineages was monophyletic, possibly indicating reactivation from clonally expanded cells. The second rebound occurred 470 days after spontaneous control of the first rebound and was phylogenetically distinct from the first, confirmed by compartmentalisation analysis, with a different cellular origin rather than ongoing replication. By contrast, third rebound viruses clustered with second rebound viruses, with evidence for ongoing evolution that was associated with lymphopenia and myeloma progression. Following ASCT a shift in tropism from CXCR4-tropic viruses to a CCR5-tropic population was observed to persist through to the third rebound. Conclusions Our data highlight similarities in the viral reservoir between elite and non-controllers undergoing ATI following allogeneic transplantation. The lack of propagation of CXCR4 using viruses following transplantation warrants further study. C1 [Watters, Sarah A.; Mlcochova, Petra; Pillay, Deenan; Gupta, Ravindra K.] UCL, Div Infect & Immun, London, England. [Watters, Sarah A.; Maldarelli, Frank] NCI, HIV Dynam & Replicat Program, Frederick, MD USA. [Goonetilleke, Nilu] Univ N Carolina, Dept Microbiol & Immunol, Chapel Hill, NC USA. [Pillay, Deenan] Africa Ctr Hlth & Populat Studies, Durban, Kwazulu Natal, South Africa. RP Gupta, RK (reprint author), UCL, Div Infect & Immun, London, England. EM Ravindra.gupta@ucl.ac.uk FU Wellcome Trust [WT098251AIA]; National Institutes for Health Research University College London Hospitals Biomedical Research Centre FX This work was supported by Wellcome Trust (SAW) WT098251AIA; National Institutes for Health Research University College London Hospitals Biomedical Research Centre. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 31 TC 0 Z9 0 U1 4 U2 4 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 12 PY 2016 VL 11 IS 7 AR e0158854 DI 10.1371/journal.pone.0158854 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ9CO UT WOS:000379508200017 PM 27403738 ER PT J AU Liu, SH Liu, J Ma, Q Cao, L Fattah, RJ Yu, ZX Bugge, TH Finkel, T Leppla, SH AF Liu, Shihui Liu, Jie Ma, Qian Cao, Liu Fattah, Rasem J. Yu, Zuxi Bugge, Thomas H. Finkel, Toren Leppla, Stephen H. TI Solid tumor therapy by selectively targeting stromal endothelial cells SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE anthrax toxin; tumor targeting; angiogenesis; CMG2; TEM8 ID ANTHRAX LETHAL FACTOR; CAPILLARY MORPHOGENESIS PROTEIN-2; CHRONIC LYMPHOCYTIC-LEUKEMIA; PROTECTIVE ANTIGEN; TOXIN VARIANTS; KINASE-KINASE; CANCER; ANGIOGENESIS; RECEPTOR; MATRIX AB Engineered tumor-targeted anthrax lethal toxin proteins have been shown to strongly suppress growth of solid tumors in mice. These toxins work through the native toxin receptors tumor endothelium marker-8 and capillary morphogenesis protein-2 (CMG2), which, in other contexts, have been described as markers of tumor endothelium. We found that neither receptor is required for tumor growth. We further demonstrate that tumor cells, which are resistant to the toxin when grown in vitro, become highly sensitive when implanted in mice. Using a range of tissue-specific loss-of-function and gain-of-function genetic models, we determined that this in vivo toxin sensitivity requires CMG2 expression on host-derived tumor endothelial cells. Notably, engineered toxins were shown to suppress the proliferation of isolated tumor endothelial cells. Finally, we demonstrate that administering an immunosuppressive regimen allows animals to receive multiple toxin dosages and thereby produces a strong and durable antitumor effect. The ability to give repeated doses of toxins, coupled with the specific targeting of tumor endothelial cells, suggests that our strategy should be efficacious for a wide range of solid tumors. C1 [Liu, Shihui; Ma, Qian; Fattah, Rasem J.; Leppla, Stephen H.] NIAID, Microbial Pathogenesis Sect, Parasit Dis Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Liu, Shihui; Bugge, Thomas H.] Natl Inst Dent & Craniofacial Res, Proteases & Tissue Remodeling Sect, Oral & Pharyngeal Canc Branch, NIH, Bethesda, MD 20892 USA. [Liu, Jie; Cao, Liu; Finkel, Toren] NHLBI, Ctr Mol Med, NIH, Bldg 10, Bethesda, MD 20892 USA. [Yu, Zuxi] NHLBI, Pathol Core Facil, NIH, Bldg 10, Bethesda, MD 20892 USA. [Cao, Liu] China Med Univ, Minist Educ, Key Lab Med Cell Biol, Shenyang 110001, Peoples R China. RP Liu, SH; Leppla, SH (reprint author), NIAID, Microbial Pathogenesis Sect, Parasit Dis Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.; Liu, SH (reprint author), Natl Inst Dent & Craniofacial Res, Proteases & Tissue Remodeling Sect, Oral & Pharyngeal Canc Branch, NIH, Bethesda, MD 20892 USA. EM shihui.liu@nih.gov; sleppla@niaid.nih.gov FU Divisions of Intramural Research of the National Institute of Allergy and Infectious Diseases; National Heart, Lung, and Blood Institute; National Institute of Dental and Craniofacial Research, National Institutes of Health FX We thank Mahtab Moayeri for helpful discussions. This research was supported with funds from the Divisions of Intramural Research of the National Institute of Allergy and Infectious Diseases, the National Heart, Lung, and Blood Institute, and the National Institute of Dental and Craniofacial Research, National Institutes of Health. NR 54 TC 1 Z9 1 U1 7 U2 7 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD JUL 12 PY 2016 VL 113 IS 28 BP E4079 EP E4087 DI 10.1073/pnas.1600982113 PG 9 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR1VX UT WOS:000379694100014 PM 27357689 ER PT J AU Fauci, AS AF Fauci, Anthony S. TI An HIV Vaccine Mapping Uncharted Territory SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Editorial Material ID INFECTION C1 [Fauci, Anthony S.] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Fauci, AS (reprint author), NIAID, Immunoregulat Lab, Bldg 31,Room 7A-03,31 Ctr Dr,MSC 2520, Bethesda, MD 20892 USA. EM afauci@niaid.nih.gov NR 7 TC 1 Z9 1 U1 1 U2 2 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD JUL 12 PY 2016 VL 316 IS 2 BP 143 EP 144 DI 10.1001/jama.2016.7538 PG 2 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9CW UT WOS:000379509000006 PM 27404178 ER PT J AU Metsch, LR Feaster, DJ Gooden, L Matheson, T Stitzer, M Das, M Jain, MK Rodriguez, AE Armstrong, WS Lucas, GM Nijhawan, AE Drainoni, ML Herrera, P Vergara-Rodriguez, P Jacobson, JM Mugavero, MJ Sullivan, M Daar, ES McMahon, DK Ferris, DC Lindblad, R VanVeldhuisen, P Oden, N Castellon, PC Tross, S Haynes, LF Douaihy, A Sorensen, JL Metzger, DS Mandler, RN Colfax, GN del Rio, C AF Metsch, Lisa R. Feaster, Daniel J. Gooden, Lauren Matheson, Tim Stitzer, Maxine Das, Moupali Jain, Mamta K. Rodriguez, Allan E. Armstrong, Wendy S. Lucas, Gregory M. Nijhawan, Ank E. Drainoni, Mari-Lynn Herrera, Patricia Vergara-Rodriguez, Pamela Jacobson, Jeffrey M. Mugavero, Michael J. Sullivan, Meg Daar, Eric S. McMahon, Deborah K. Ferris, David C. Lindblad, Robert VanVeldhuisen, Paul Oden, Neal Castellon, Pedro C. Tross, Susan Haynes, Louise F. Douaihy, Antoine Sorensen, James L. Metzger, David S. Mandler, Raul N. Colfax, Grant N. del Rio, Carlos TI Effect of Patient Navigation With or Without Financial Incentives on Viral Suppression Among Hospitalized Patients With HIV Infection and Substance Use A Randomized Clinical Trial SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID ADDICTION SEVERITY INDEX; CRACK COCAINE USERS; DRUG-USERS; CASE-MANAGEMENT; SCREENING-TEST; CARE; RETENTION; ADHERENCE; STATES; PROGRESSION AB IMPORTANCE Substance use is a major driver of the HIV epidemic and is associated with poor HIV care outcomes. Patient navigation (care coordination with case management) and the use of financial incentives for achieving predetermined outcomes are interventions increasingly promoted to engage patients in substance use disorders treatment and HIV care, but there is little evidence for their efficacy in improving HIV-1 viral suppression rates. OBJECTIVE To assess the effect of a structured patient navigation intervention with or without financial incentives to improve HIV-1 viral suppression rates among patients with elevated HIV-1 viral loads and substance use recruited as hospital inpatients. DESIGN, SETTING, AND PARTICIPANTS From July 2012 through January 2014, 801 patients with HIV infection and substance use from 11 hospitals across the United States were randomly assigned to receive patient navigation alone (n = 266), patient navigation plus financial incentives (n = 271), or treatment as usual (n = 264). HIV-1 plasma viral load was measured at baseline and at 6 and 12 months. INTERVENTIONS Patient navigation included up to 11 sessions of care coordination with case management and motivational interviewing techniques over 6 months. Financial incentives (up to $1160) were provided for achieving targeted behaviors aimed at reducing substance use, increasing engagement in HIV care, and improving HIV outcomes. Treatment as usual was the standard practice at each hospital for linking hospitalized patients to outpatient HIV care and substance use disorders treatment. MAIN OUTCOMES AND MEASURES The primary outcome was HIV viral suppression (<= 200 copies/mL) relative to viral nonsuppression or death at the 12-month follow-up. RESULTS Of 801 patients randomized, 261 (32.6%) were women (mean [SD] age, 44.6 years [10.0 years]). There were no differences in rates of HIV viral suppression versus nonsuppression or death among the 3 groups at 12 months. Eighty-five of 249 patients (34.1%) in the usual-treatment group experienced treatment success compared with 89 of 249 patients (35.7%) in the navigation-only group for a treatment difference of 1.6% (95% CI, -6.8% to 10.0%; P = .80) and compared with 98 of 254 patients (38.6%) in the navigation-plus-incentives group for a treatment difference of 4.5%(95% CI -4.0% to 12.8%; P = .68). The treatment difference between the navigation-only and the navigation-plus-incentives group was -2.8%(95% CI, -11.3% to 5.6%; P = .68). CONCLUSIONS AND RELEVANCE Among hospitalized patients with HIV infection and substance use, patient navigation with or without financial incentives did not have a beneficial effect on HIV viral suppression relative to nonsuppression or death at 12 months vs treatment as usual. These findings do not support these interventions in this setting. C1 [Metsch, Lisa R.; Gooden, Lauren; Castellon, Pedro C.] Columbia Univ, Dept Sociomed Sci, Mailman Sch Publ Hlth, 722 W168th St,Room 918, New York, NY 10032 USA. [Feaster, Daniel J.] Univ Miami, Miller Sch Med, Dept Publ Hlth Sci, Miami, FL 33136 USA. [Matheson, Tim; Das, Moupali; Colfax, Grant N.] San Francisco Dept Publ Hlth, San Francisco, CA USA. [Stitzer, Maxine] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA. [Das, Moupali] San Francisco Gen Hosp, San Francisco, CA 94110 USA. [Das, Moupali] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Jain, Mamta K.; Nijhawan, Ank E.] Univ Texas Southwestern Med Ctr Dallas, Div Infect Dis, Dept Internal Med, Dallas, TX USA. [Jain, Mamta K.] Parkland Hlth & Hosp Syst, Dallas, TX USA. [Rodriguez, Allan E.] Univ Miami, Miller Sch Med, Div Infect Dis, Dept Med, Miami, FL 33136 USA. [Armstrong, Wendy S.; del Rio, Carlos] Emory Univ, Sch Med, Dept Med, Div Infect Dis, Atlanta, GA USA. [Lucas, Gregory M.] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. [Drainoni, Mari-Lynn] Boston Univ, Sch Publ Hlth, Dept Hlth Law Policy & Management, Boston, MA USA. [Drainoni, Mari-Lynn; Sullivan, Meg] Boston Univ, Sch Med, Dept Med, Infect Dis Sect, Boston, MA 02118 USA. [Herrera, Patricia; Vergara-Rodriguez, Pamela] John H Stroger Jr Hosp Cook Cty, Ruth M Rothstein CORE Ctr, Chicago, IL USA. [Jacobson, Jeffrey M.] Drexel Univ, Div Infect Dis, Coll Med, Philadelphia, PA 19104 USA. [Jacobson, Jeffrey M.] Temple Univ, Lewis Katz Sch Med, Dept Med, Philadelphia, PA 19122 USA. [Jacobson, Jeffrey M.] Temple Univ, Lewis Katz Sch Med, Dept Neurosci, Philadelphia, PA 19122 USA. [Jacobson, Jeffrey M.] Temple Univ, Lewis Katz Sch Med, Inst Translat AIDS Res, Philadelphia, PA 19122 USA. [Mugavero, Michael J.] Univ Alabama Birmingham, Dept Med, Div Infect Dis, Birmingham, AL 35294 USA. [Daar, Eric S.] Univ Calif Los Angeles, Med Ctr, Los Angeles Biomed Res Inst Harbor, Torrance, CA 90509 USA. [McMahon, Deborah K.] Univ Pittsburgh, Pittsburgh, PA USA. [Ferris, David C.] Mt Sinai St Lukes & Mt Sinai West Hosp, New York, NY USA. [Ferris, David C.] Icahn Sch Med Mt Sinai, New York, NY 10029 USA. [Lindblad, Robert; VanVeldhuisen, Paul; Oden, Neal] Emmes Corp, Rockville, MD USA. [Tross, Susan] Columbia Univ, HIV Ctr Clin & Behav Studies, Div Gender Sexual & Hlth, Dept Psychiat, New York, NY USA. [Tross, Susan] Columbia Univ, Greater New York Node, Natl Drug Abuse Treatment Clin Trials Network, Substance Use Res Ctr,Dept Psychiat, New York, NY USA. [Haynes, Louise F.] Med Univ South Carolina, Div Addict Sci, Dept Psychiat & Behav Sci, Charleston, SC 29425 USA. [Douaihy, Antoine] Univ Pittsburgh, Sch Med, Pittsburgh, PA USA. [Sorensen, James L.] Univ Calif San Francisco, Dept Psychiat, Western States Node, Natl Drug Abuse Treatment Clin Trials Network, San Francisco, CA USA. [Metzger, David S.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA. [Metzger, David S.] Treatment Res Inst, Philadelphia, PA USA. [Mandler, Raul N.] NIDA, Ctr Clin Trials Network, NIH, Bethesda, MD 20892 USA. [del Rio, Carlos] Emory Univ, Hubert Dept Global Hlth, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA. RP Metsch, LR (reprint author), Columbia Univ, Dept Sociomed Sci, Mailman Sch Publ Hlth, 722 W168th St,Room 918, New York, NY 10032 USA. EM lm2892@columbia.edu RI del Rio, Carlos/B-3763-2012 OI del Rio, Carlos/0000-0002-0153-3517 FU National Institute on Drug Abuse [U10DA013720, UG1DA013720, U10DA013035, UG1DA013035, U10DA013034, UG1DA013034]; University of Miami Center for AIDS Research (CFAR) [P30AI073961]; Emory University CFAR [P30AI050409]; Atlanta Clinical and Translational Science Institute [UL1TR000454]; HIV Center for Clinical and Behavioral Studies at the New York State Psychiatric Institute/Columbia University Medical Center [P30MH043520]; The National Institute on Drug Abuse [U10DA013727, UG1DA013727, U10DA020024, UG1DA020024, U10DA013732, UG1DA013732, U10DA015831, UG1DA015831, U10DA015815, UG1DA015815, U10DA020036, U10DA013043, U10DA013045, HHSN271200900034C/N01DA92217, HHSN271201400028C/N01DA142237, HHSN271201000024C/N01DA102221] FX Funding for this study and analysis was provided for the study's principal investigators by the National Institute on Drug Abuse under the following awards: U10DA013720 and UG1DA013720 (Drs Jose Szapocznik and Lisa R. Metsch); U10DA013035 and UG1DA013035 (Drs John Rotrosen and Edward V. Nunes, Jr); U10DA013034 and UG1DA013034 (Drs Maxine Stitzer and Robert Schwartz); U10DA013727 and UG1DA013727 (Drs. Kathleen T. Brady and Matthew Carpenter); U10DA020024 and UG1DA020024 (Dr Madhukar H. Trivedi); U10DA013732 and UG1DA013732 (Dr Theresa Winhusen); U10DA015831 and UG1DA015831 (Drs. Roger D. Weiss and Kathleen Carroll); U10DA015815 and UG1DA015815 (Drs James L. Sorensen and Dennis McCarty); U10DA020036 (Dr Dennis Daley); U10DA013043 (Dr George Woody); U10DA013045 (Dr Walter Ling); HHSN271200900034C/N01DA92217 and HHSN271201400028C/N01DA142237 (Dr Paul Van Veldhuisen); and HHSN271201000024C/N01DA102221 (Dr Robert Lindblad). Support from the University of Miami Center for AIDS Research (CFAR) (P30AI073961; Dr Savita Pahwa), the Emory University CFAR (P30AI050409; Drs Carlos del Rio, James W. Curran, and Eric Hunter), the Atlanta Clinical and Translational Science Institute (UL1TR000454; Dr David Stephens), and the HIV Center for Clinical and Behavioral Studies at the New York State Psychiatric Institute/Columbia University Medical Center (P30MH043520; Dr Robert Remien) is also acknowledged. NR 36 TC 7 Z9 7 U1 3 U2 6 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD JUL 12 PY 2016 VL 316 IS 2 BP 156 EP 170 DI 10.1001/jama.2016.8914 PG 15 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9CW UT WOS:000379509000012 PM 27404184 ER PT J AU Kong, XR Kigozi, G Ssekasanvu, J Nalugoda, F Nakigozi, G Ndyanabo, A Lutalo, T Reynolds, SJ Ssekubugu, R Kagaayi, J Bugos, E Chang, LW Nanlesta, P Mary, G Berman, A Quinn, TC Serwadda, D Wawer, MJ Gray, RH AF Kong, Xiangrong Kigozi, Godfrey Ssekasanvu, Joseph Nalugoda, Fred Nakigozi, Gertrude Ndyanabo, Anthony Lutalo, Tom Reynolds, Steven J. Ssekubugu, Robert Kagaayi, Joseph Bugos, Eva Chang, Larry W. Nanlesta, Pilgrim Mary, Grabowski Berman, Amanda Quinn, Thomas C. Serwadda, David Wawer, Maria J. Gray, Ronald H. TI Association of Medical Male Circumcision and Antiretroviral Therapy Scale-up With Community HIV Incidence in Rakai, Uganda SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID PREVENTION; TRIAL; MEN; ACQUISITION; INFECTIONS; COVERAGE; RISK AB IMPORTANCE Medical male circumcision (MMC) and antiretroviral therapy (ART) are proven HIV prevention interventions, but there are limited data on the population-level effect of scale-up of these interventions in sub-Saharan Africa. Such evaluation is important for planning and resource allocation. OBJECTIVE To examine whether increasing community MMC and ART coverage was associated with reduced community HIV incidence in Rakai District, Uganda. DESIGN, SETTING, AND PARTICIPANTS Using person-level data from population-based surveys conducted from 1999 through 2013 in 45 rural Rakai communities, community-level ART and MMC coverage, sociodemographics, sexual behaviors, and HIV prevalence and incidence were estimated in 3 periods: prior to the availability of ART and MMC (1999-2004), during early availability of ART and MMC (2004-2007), and during mature program scale-up (2007-2013). EXPOSURES Community MMC coverage in males and ART coverage in HIV-positive persons of the opposite sex based on self-reported MMC status and ART use. MAIN OUTCOMES AND MEASURES Adjusted incidence rate ratios (IRRs) for sex-specific community HIV incidence estimated using multivariable Poisson regression with generalized estimating equations. RESULTS From 1999 through 2013, 44 688 persons participated in 1 or more surveys (mean age at the first survey, 24.6 years [range, 15-49]; female, 56.5%; mean survey participation rate, 92.6%[95% CI, 92.4%-92.7%]). Median community MMC coverage increased from 19% to 39%, and median community ART coverage rose from 0% to 21% in males and from 0% to 26% in females. Median community HIV incidence declined from 1.25 to 0.84 per 100 person-years in males, and from 1.25 to 0.99 per 100 person-years in females. Among males, each 10% increase in community MMC coverage was associated with an adjusted IRR of 0.87 (95% CI, 0.82-0.93). Comparing communities with MMC coverage more than 40% (mean male community incidence, 1.03 per 100 person-years) with communities with coverage of 10% or less (mean male incidence, 1.69 per 100 person-years), the adjusted IRR was 0.61 (95% CI, 0.43-0.88). For each 10% increase in female self-reported ART coverage, there was no significant reduction in male HIV incidence (adjusted IRR, 0.95 [95% CI, 0.81-1.13]). Comparing communities with female ART coverage more than 20%(mean male incidence, 0.87 per 100 person-years) to communities with female ART coverage of 20% or less (mean male incidence, 1.17 per 100 person-years), the adjusted IRR was 0.77 (95% CI, 0.61-0.98). Neither MMC nor male ART coverage was associated with lower female community HIV incidence. CONCLUSIONS AND RELEVANCE In Rakai, Uganda, increasing community MMC and female ART coverage was associated with lower community HIV incidence in males. If similar associations are found elsewhere, this would support further scale-up of MMC and ART for HIV prevention in sub-Saharan Africa. C1 [Kong, Xiangrong; Ssekasanvu, Joseph; Bugos, Eva; Chang, Larry W.; Mary, Grabowski; Wawer, Maria J.; Gray, Ronald H.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. [Kong, Xiangrong] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD USA. [Kigozi, Godfrey; Ssekasanvu, Joseph; Nalugoda, Fred; Nakigozi, Gertrude; Ndyanabo, Anthony; Lutalo, Tom; Ssekubugu, Robert; Kagaayi, Joseph; Serwadda, David; Wawer, Maria J.; Gray, Ronald H.] Rakai Hlth Sci Program, Entebbe, Uganda. [Reynolds, Steven J.; Chang, Larry W.; Quinn, Thomas C.] Johns Hopkins Sch Med, Baltimore, MD USA. [Reynolds, Steven J.; Quinn, Thomas C.] NIAID, Div Intramural Res, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Nanlesta, Pilgrim] Populat Council, Washington, DC USA. [Berman, Amanda] Johns Hopkins, Ctr Commun Programs, Baltimore, MD USA. [Serwadda, David] Makerere Univ, Sch Publ Hlth, Kampala, Uganda. RP Kong, XR (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, 627 N Washington St, Baltimore, MD 21205 USA. EM xkong4@jhu.edu FU National Institutes of Health (NIH) [K25AI114461, U01AI100031, R01HD050180, U01AI075115, R01 HD070769]; Division of Intramural Research at the National Institute of Allergy and Infectious Diseases; Bill and Melinda Gates Foundation [081113, 22006.03]; Johns Hopkins Center for AIDS Research [JHU CFAR P30AI094189] FX This study was supported by grants from the National Institutes of Health (NIH, K25AI114461, U01AI100031, R01HD050180, U01AI075115, R01 HD070769), the Division of Intramural Research at the National Institute of Allergy and Infectious Diseases, the Bill and Melinda Gates Foundation (#081113, 22006.03), and the Johns Hopkins Center for AIDS Research (JHU CFAR P30AI094189). NR 24 TC 2 Z9 2 U1 3 U2 3 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD JUL 12 PY 2016 VL 316 IS 2 BP 182 EP 190 DI 10.1001/jama.2016.7292 PG 9 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9CW UT WOS:000379509000014 PM 27404186 ER PT J AU Chen, Y Singh, S Matsumoto, A Manna, SK Abdelmegeed, MA Golla, S Murphy, RC Dong, HB Song, BJ Gonzalez, FJ Thompson, DC Vasiliou, V AF Chen, Ying Singh, Surendra Matsumoto, Akiko Manna, Soumen K. Abdelmegeed, Mohamed A. Golla, Srujana Murphy, Robert C. Dong, Hongbin Song, Byoung-Joon Gonzalez, Frank J. Thompson, David C. Vasiliou, Vasilis TI Chronic Glutathione Depletion Confers Protection against Alcohol-induced Steatosis: Implication for Redox Activation of AMP-activated Protein Kinase Pathway SO SCIENTIFIC REPORTS LA English DT Article ID INDUCED LIVER-INJURY; POLYUNSATURATED FATTY-ACIDS; OXIDATIVE STRESS; DEFICIENT MICE; GENE-EXPRESSION; KNOCKOUT MICE; ALDEHYDE DEHYDROGENASES; MOLECULAR-MECHANISMS; SUPEROXIDE-DISMUTASE; METABOLIZING ENZYME AB The pathogenesis of alcoholic liver disease (ALD) is not well established. However, oxidative stress and associated decreases in levels of glutathione (GSH) are known to play a central role in ALD. The present study examines the effect of GSH deficiency on alcohol-induced liver steatosis in Gclm knockout (KO) mice that constitutively have approximate to 15% normal hepatic levels of GSH. Following chronic (6 week) feeding with an ethanol-containing liquid diet, the Gclm KO mice were unexpectedly found to be protected against steatosis despite showing increased oxidative stress (as reflected in elevated levels of CYP2E1 and protein carbonyls). Gclm KO mice also exhibit constitutive activation of liver AMP-activated protein kinase (AMPK) pathway and nuclear factor-erythroid 2-related factor 2 target genes, and show enhanced ethanol clearance, altered hepatic lipid profiles in favor of increased levels of polyunsaturated fatty acids and concordant changes in expression of genes associated with lipogenesis and fatty acid oxidation. In summary, our data implicate a novel mechanism protecting against liver steatosis via an oxidative stress adaptive response that activates the AMPK pathway. We propose redox activation of the AMPK may represent a new therapeutic strategy for preventing ALD. C1 [Chen, Ying; Singh, Surendra; Dong, Hongbin; Vasiliou, Vasilis] Yale Univ, Dept Environm Hlth Sci, New Haven, CT 06520 USA. [Matsumoto, Akiko] Saga Univ, Sch Med, Dept Social Med, Saga 8498501, Japan. [Manna, Soumen K.; Golla, Srujana; Gonzalez, Frank J.] NCI, Lab Metab, Ctr Canc Res, Bethesda, MD 20852 USA. [Abdelmegeed, Mohamed A.; Song, Byoung-Joon] NIAAA, Lab Membrane Biochem & Biophys, NIH, Bethesda, MD 20892 USA. [Murphy, Robert C.] Univ Colorado AMC, Dept Pharmacol, Aurora, CO 80045 USA. [Thompson, David C.] Univ Colorado AMC, Dept Clin Pharm, Aurora, CO 80045 USA. RP Vasiliou, V (reprint author), Yale Univ, Dept Environm Hlth Sci, New Haven, CT 06520 USA. EM vasilis.vasiliou@yale.edu FU NIH [AA022057, AA021724]; NIAAA [T32 AA007464] FX This work is supported in part by NIH grants AA022057 (VV), AA021724 (VV). HD was supported by the NIAAA T32 AA007464. NR 63 TC 1 Z9 1 U1 1 U2 9 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD JUL 12 PY 2016 VL 6 AR 29743 DI 10.1038/srep29743 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ7MW UT WOS:000379392600001 PM 27403993 ER PT J AU Steemers, B Vicente-Grabovetsky, A Barry, C Smulders, P Schroder, TN Burgess, N Doeller, CF AF Steemers, Ben Vicente-Grabovetsky, Alejandro Barry, Caswell Smulders, Peter Schroder, Tobias Navarro Burgess, Neil Doeller, Christian F. TI Hippocampal Attractor Dynamics Predict Memory-Based Decision Making SO CURRENT BIOLOGY LA English DT Article ID MEDIAL TEMPORAL-LOBE; COMPLEMENTARY-LEARNING-SYSTEMS; VOXEL PATTERN-ANALYSIS; SPATIAL NAVIGATION; RECOGNITION MEMORY; REAL-WORLD; REPRESENTATIONS; NETWORKS; CONTEXT; INTEGRATION AB Memories are thought to be retrieved by attractor dynamics if a given input is sufficiently similar to a stored attractor state [1-5]. The hippocampus, a region crucial for spatial navigation [6-12] and episodic memory [13-18], has been associated with attractorbased computations [5, 9], receiving support from the way rodent place cells ``remap'' nonlinearly between spatial representations [19-22]. In humans, nonlinear response patterns have been reported in perceptual categorization tasks [23-25]; however, it remains elusive whether human memory retrieval is driven by attractor dynamics and what neural mechanisms might underpin them. To test this, we used a virtual reality [7, 11, 26-28] task where participants learned object-location associations within two distinct virtual reality environments. Participants were subsequently exposed to four novel intermediate environments, generated by linearly morphing the background landscapes of the familiar environments, while tracking fMRI activity. We show that linear changes in environmental context cause linear changes in activity patterns in sensory cortex but cause dynamic, nonlinear changes in both hippocampal activity pattern and remembered locations. Furthermore, the sigmoidal response in the hippocampus scaled with the strength of the sigmoidal pattern in spatial memory. These results indicate that mnemonic decisions in an ambiguous novel context relate to putative attractor dynamics in the hippocampus, which support the dynamic remapping of memories. C1 [Steemers, Ben; Vicente-Grabovetsky, Alejandro; Smulders, Peter; Schroder, Tobias Navarro; Doeller, Christian F.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands. [Steemers, Ben] NIMH, Neuropsychol Lab, NIH, Bldg 9, Bethesda, MD 20892 USA. [Barry, Caswell] UCL, Res Dept Cell & Dev Biol, Gower St, London WC1E 6BT, England. [Burgess, Neil] UCL Inst Cognit Neurosci, 17 Queen Sq, London WC1N 3AZ, England. [Burgess, Neil] UCL Inst Neurol, Queen Sq, London WC1 3BG, England. RP Steemers, B; Doeller, CF (reprint author), Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands.; Steemers, B (reprint author), NIMH, Neuropsychol Lab, NIH, Bldg 9, Bethesda, MD 20892 USA. EM ben.steemers@nih.gov; christian.doeller@donders.ru.nl FU European Research Council [ERC-StG 261177]; Netherlands Organization for Scientific Research [NWO-Vidi 452-12-009]; Wellcome Trust; Medical Research Council, UK; Royal Society, UK [101208/z/13/z] FX This work was supported by European Research Council (ERC-StG 261177) and Netherlands Organization for Scientific Research (NWO-Vidi 452-12-009) fellowships awarded to C.F.D. N.B. is supported by the Wellcome Trust and the Medical Research Council, UK. C.B. is funded by the Wellcome Trust and the Royal Society, UK (101208/z/13/z). The authors would like to thank S. Auger and O. Vikbladh for earlier behavioral pilot work; S. Bosch for help with data acquisition; and A. Backus and J. Bellmund for useful discussions. NR 45 TC 1 Z9 1 U1 3 U2 3 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0960-9822 EI 1879-0445 J9 CURR BIOL JI Curr. Biol. PD JUL 11 PY 2016 VL 26 IS 13 BP 1750 EP 1757 DI 10.1016/j.cub.2016.04.063 PG 8 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA DY0PU UT WOS:000384799500042 PM 27345167 ER PT J AU Lu, R Wang, P Parton, T Zhou, Y Chrysovergis, K Rockowitz, S Chen, WY Abdel-Wahab, O Wade, PA Zheng, DY Wang, GG AF Lu, Rui Wang, Ping Parton, Trevor Zhou, Yang Chrysovergis, Kaliopi Rockowitz, Shira Chen, Wei-Yi Abdel-Wahab, Omar Wade, Paul A. Zheng, Deyou Wang, Gang Greg TI Epigenetic Perturbations by Arg882-Mutated DNMT3A Potentiate Aberrant Stem Cell Gene-Expression Program and Acute Leukemia Development SO CANCER CELL LA English DT Article ID ACUTE MYELOID-LEUKEMIA; MLL-REARRANGED LEUKEMIA; HEMATOPOIETIC STEM; DNA METHYLATION; CLONAL HEMATOPOIESIS; H3K79 METHYLATION; HOX GENES; MUTATIONS; LEUKEMOGENESIS; TRANSFORMATION AB DNA methyltransferase 3A(DNMT3A) is frequently mutated in hematological cancers; however, the underlying oncogenic mechanism remains elusive. Here, we report that the DNMT3A mutational hotspot at Arg882 (DNMT3A(R882H)) cooperates with NRAS mutation to transform hematopoietic stem/progenitor cells and induce acute leukemia development. Mechanistically, DNMT3A(R882H) directly binds to and potentiates transactivation of stemness genes critical for leukemogenicity including Meis1, Mn1, and Hoxa gene cluster. DNMT3A(R882H) induces focal epigenetic alterations, including CpG hypomethylation and concurrent gain of active histone modifications, at cis-regulatory elements such as enhancers to facilitate gene transcription. CRISPR/Cas9-mediated ablation of a putative Meis1 enhancer carrying DNMT3A(R882H)-induced DNA hypomethylation impairs Meis1 expression. Importantly, DNMT3A(R882H)-induced gene-expression programs can be repressed through Dot1l inhibition, providing an attractive therapeutic strategy for DNMT3A-mutated leukemias. C1 [Lu, Rui; Parton, Trevor; Wang, Gang Greg] Univ N Carolina, Sch Med, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA. [Lu, Rui; Wang, Gang Greg] Univ N Carolina, Sch Med, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA. [Wang, Ping; Zheng, Deyou] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10461 USA. [Zhou, Yang] Univ N Carolina, McAllister Heart Inst, Dept Pathol & Lab Med, Sch Med, Chapel Hill, NC 27599 USA. [Chrysovergis, Kaliopi; Wade, Paul A.] NIEHS, Mol Carcinogenesis Lab, NIH, Res Triangle Pk, NC 27709 USA. [Rockowitz, Shira; Zheng, Deyou] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA. [Rockowitz, Shira; Zheng, Deyou] Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10461 USA. [Chen, Wei-Yi] Natl Yang Ming Univ, Inst Biochem & Mol Biol, Taipei 11221, Taiwan. [Abdel-Wahab, Omar] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA. [Wang, Gang Greg] Univ North Carolina Chapel Hill, Curriculum Genet & Mol Biol, Chapel Hill, NC 27599 USA. RP Wang, GG (reprint author), Univ N Carolina, Sch Med, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA.; Wang, GG (reprint author), Univ N Carolina, Sch Med, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA.; Zheng, DY (reprint author), Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10461 USA.; Zheng, DY (reprint author), Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA.; Zheng, DY (reprint author), Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10461 USA.; Wang, GG (reprint author), Univ North Carolina Chapel Hill, Curriculum Genet & Mol Biol, Chapel Hill, NC 27599 USA. EM deyou.zheng@einstein.yu.edu; greg_wang@med.unc.edu OI Wang, G Greg/0000-0002-7210-9940; Lu, Rui/0000-0003-1593-2612 FU NCI [K99/R00, CA151683]; DoD [CA130247]; Gabrielle's Angel Foundation; North Carolina Biotech Center Institutional Support Grant [2012-IDG-1006]; UNC Cancer Center Core Support Grant [P30 CA016086] FX We graciously thank Drs. Y. Xiong and K. Humphries for providing constructs, M. Kamps and M. Minden for leukemia lines, M. Torres for Meis1 antibody, D. Bauer and F. Zhang for CRISPR/Cas9 systems, M. Rehli for a CpG-free reporter, and J. Bear for an shRNA vector used in this study. Thanks to Drs. D. Allison and L. Cai and other members of the Wang laboratory for helpful discussion and technical support. We thank UNC's Genomics Core, Animal Studies Core, Flow Core, and HTSF core for their support of this work. This work is supported by NCI K99/R00 grant CA151683 to G.G.W., a DoD grant CA130247 to G.G.W., and grants of Gabrielle's Angel Foundation to O.A. and G.G.W. G.G.W. is an American Society of Hematology Scholar and a Kimmel Scholar. R.L. is a Lymphoma Research Foundation Postdoctorate Fellow. UNC Cores including the flow cytometry facility are supported in part by the North Carolina Biotech Center Institutional Support Grant 2012-IDG-1006 and UNC Cancer Center Core Support Grant P30 CA016086. NR 45 TC 5 Z9 5 U1 3 U2 10 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1535-6108 EI 1878-3686 J9 CANCER CELL JI Cancer Cell PD JUL 11 PY 2016 VL 30 IS 1 BP 92 EP 107 DI 10.1016/j.ccell.2016.05.008 PG 16 WC Oncology; Cell Biology SC Oncology; Cell Biology GA DR7JY UT WOS:000380077100014 PM 27344947 ER PT J AU Di Biase, S Lee, C Brandhorst, S Manes, B Buono, R Cheng, CW Cacciottolo, M Martin-Montalvo, A de Cabo, R Wei, M Morgan, TE Longo, VD AF Di Biase, Stefano Lee, Changhan Brandhorst, Sebastian Manes, Brianna Buono, Roberta Cheng, Chia-Wei Cacciottolo, Mafalda Martin-Montalvo, Alejandro de Cabo, Rafael Wei, Min Morgan, Todd E. Longo, Valter D. TI Fasting-Mimicking Diet Reduces HO-1 to Promote T Cell-Mediated Tumor Cytotoxicity SO CANCER CELL LA English DT Article ID HEME OXYGENASE-1; CARBON-MONOXIDE; BREAST-CANCER; IMMUNITY; CHEMOTHERAPY; MECHANISMS; GROWTH; MICE; IMMUNOSUPPRESSION; CYCLOPHOSPHAMIDE AB Immune-based interventions are promising strategies to achieve long-term cancer-free survival. Fasting was previously shown to differentially sensitize tumors to chemotherapy while protecting normal cells, including hematopoietic stem and immune cells, from its toxic side effects. Here, we show that the combination of chemotherapy and a fasting-mimicking diet (FMD) increases the levels of bone marrow common lymphoid progenitor cells and cytotoxic CD8(+) tumor-infiltrating lymphocytes (TILs), leading to a major delay in breast cancer and melanoma progression. In breast tumors, this effect is partially mediated by the downregulation of the stress-responsive enzyme heme oxygenase-1 (HO-1). These data indicate that FMD cycles combined with chemotherapy can enhance T cell-dependent targeted killing of cancer cells both by stimulating the hematopoietic system and by enhancing CD8(+)-dependent tumor cytotoxicity. C1 [Di Biase, Stefano; Lee, Changhan; Brandhorst, Sebastian; Manes, Brianna; Buono, Roberta; Cheng, Chia-Wei; Cacciottolo, Mafalda; Wei, Min; Morgan, Todd E.; Longo, Valter D.] Univ So Calif, Leonard Davis Sch Gerontol, Longev Inst, Los Angeles, CA 90089 USA. [Di Biase, Stefano; Lee, Changhan; Brandhorst, Sebastian; Manes, Brianna; Buono, Roberta; Cheng, Chia-Wei; Cacciottolo, Mafalda; Wei, Min; Morgan, Todd E.; Longo, Valter D.] Univ So Calif, Dept Biol Sci, Los Angeles, CA 90089 USA. [Martin-Montalvo, Alejandro; de Cabo, Rafael] NIA, Translat Gerontol Branch, NIH, Baltimore, MD 21224 USA. [Longo, Valter D.] FIRC Inst Mol Oncol, IFOM, I-20139 Milan, Italy. RP Longo, VD (reprint author), Univ So Calif, Leonard Davis Sch Gerontol, Longev Inst, Los Angeles, CA 90089 USA.; Longo, VD (reprint author), Univ So Calif, Dept Biol Sci, Los Angeles, CA 90089 USA.; Longo, VD (reprint author), FIRC Inst Mol Oncol, IFOM, I-20139 Milan, Italy. EM vlongo@usc.edu RI Martin-Montalvo, Alejandro/C-2031-2017; OI Martin-Montalvo, Alejandro/0000-0002-3886-5355; , rafael/0000-0003-2830-5693; Wei, Min/0000-0002-2649-9271 FU NIH [P01 AG034906]; NCI [HHSN261201200051C]; Intramural Research Program of the National Institute on Aging, NIH FX This study was funded by NIH grant P01 AG034906 to V.D.L. and subcontract HHSN261201200051C from NCI to M.W. R.d.C and A.M.M. were funded by the Intramural Research Program of the National Institute on Aging, NIH. We thank William Wood, Elin Lehrmann, and Yongqing Zhang for assistance with microarray analyses. V.D.L. and T.M. have equity interest in L-Nutra, a company developing medical food. NR 45 TC 11 Z9 11 U1 12 U2 17 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1535-6108 EI 1878-3686 J9 CANCER CELL JI Cancer Cell PD JUL 11 PY 2016 VL 30 IS 1 BP 136 EP 146 DI 10.1016/j.ccell.2016.06.005 PG 11 WC Oncology; Cell Biology SC Oncology; Cell Biology GA DR7JY UT WOS:000380077100017 PM 27411588 ER PT J AU Meker, S Braitbard, O Hall, MD Hochman, J Tshuva, EY AF Meker, Sigalit Braitbard, Ori Hall, Matthew D. Hochman, Jacob Tshuva, Edit Y. TI Specific Design of Titanium(IV) Phenolato Chelates Yields Stable and Accessible, Effective and Selective Anticancer Agents SO CHEMISTRY-A EUROPEAN JOURNAL LA English DT Article DE antitumor agents; drug design; ligand design; N,O ligands; titanium ID HUMAN OVARIAN-CANCER; SUBSTITUTED AROMATIC RINGS; RAY-STRUCTURE ANALYSIS; TITANOCENE DICHLORIDE; METAL-COMPLEXES; CELL-LINES; SALAN-TITANIUM(IV) COMPLEXES; ANTIPROLIFERATIVE ACTIVITY; BIS(PHENOLATO) LIGANDS; MECHANISTIC INSIGHTS AB Octahedral titanium(IV) complexes of phenolato hexadentate ligands were developed and showed very high stability for days in water solutions. In vitro cytotoxicity studies showed that, whereas tetrakis(phenolato) systems are generally of low activity presumably due to inaccessibility, smaller bis(phenolato)bis(alkoxo) complexes feature high anticancer activity and accessibility even without formulations, also toward a cisplatin-resistant cell line. An all-aliphatic control complex was unstable and inactive. A leading phenolato complex also revealed: 1) high durability in fully aqueous solutions; accordingly, negligible loss of activity after preincubation for three days in medium or in serum; 2) maximal cellular accumulation and induction of apoptosis following 24-48 h of administration; 3) reduced impact on noncancerous fibroblast cells; 4) in vivo efficacy toward lymphoma cells in murine model; 5) high activity in NCI-60 panel, with average GI(50) of 4.6 +/- 2 mu m. This newly developed family of Ti-IV complexes is thus of great potential for anticancer therapy. C1 [Meker, Sigalit; Tshuva, Edit Y.] Hebrew Univ Jerusalem, Inst Chem, IL-9190401 Jerusalem, Israel. [Braitbard, Ori; Hochman, Jacob] Hebrew Univ Jerusalem, Alexander Silberman Inst Life Sci, Dept Cell & Dev Biol, IL-9190401 Jerusalem, Israel. [Hall, Matthew D.] NIH, NCATS Chem Genom Ctr, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr, Rockville, MD 20850 USA. RP Tshuva, EY (reprint author), Hebrew Univ Jerusalem, Inst Chem, IL-9190401 Jerusalem, Israel. EM edit.tshuva@mail.huji.ac.il RI Tshuva, Edit/B-5229-2015 OI Tshuva, Edit/0000-0001-7452-3611 FU European Council under the European Community [239603] FX We thank Dr. Benny Bogoslaysky for crystallographic analyses, and Dr. Karina Hazan for elemental analyses and MS measurements. Funding was received from the European Council under the European Community's Seventh Framework Programme (FP7/2007-2013)/ERC Grant agreement (No. 239603). NR 59 TC 3 Z9 3 U1 10 U2 13 PU WILEY-V C H VERLAG GMBH PI WEINHEIM PA POSTFACH 101161, 69451 WEINHEIM, GERMANY SN 0947-6539 EI 1521-3765 J9 CHEM-EUR J JI Chem.-Eur. J. PD JUL 11 PY 2016 VL 22 IS 29 BP 9986 EP 9995 DI 10.1002/chem.201601389 PG 10 WC Chemistry, Multidisciplinary SC Chemistry GA DS0FX UT WOS:000380271900019 PM 27320784 ER PT J AU Schoborg, TA Rusan, NM AF Schoborg, Todd A. Rusan, Nasser M. TI Taking Centrioles to the Elimination Round SO DEVELOPMENTAL CELL LA English DT Editorial Material ID STARFISH OOCYTES; POLAR BODIES; CENTROSOME AB Two recent papers published in The Journal of Cell Biology (Borrego-Pinto et al., 2016) and Science (Pimenta-Marques et al., 2016) have begun to shed light on the mechanism of centriole elimination during female oogenesis, highlighting a protective role for Polo kinase and the pericentriolar material. C1 [Schoborg, Todd A.; Rusan, Nasser M.] NHLBI, Cell Biol & Physiol Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Rusan, NM (reprint author), NHLBI, Cell Biol & Physiol Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. EM nasser@nih.gov RI Rusan, Nasser/P-3511-2016 FU Intramural NIH HHS [ZIA HL006126-05] NR 9 TC 0 Z9 0 U1 3 U2 3 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1534-5807 EI 1878-1551 J9 DEV CELL JI Dev. Cell PD JUL 11 PY 2016 VL 38 IS 1 BP 10 EP 12 DI 10.1016/j.devcel.2016.06.027 PG 3 WC Cell Biology; Developmental Biology SC Cell Biology; Developmental Biology GA DR7IO UT WOS:000380073400005 PM 27404354 ER PT J AU Chaudhari, SN Mukherjee, M Vagasi, AS Bi, G Rahman, MM Nguyen, CQ Paul, L Selhub, J Kipreos, ET AF Chaudhari, Snehal N. Mukherjee, Madhumati Vagasi, Alexandra S. Bi, Gaofeng Rahman, Mohammad M. Nguyen, Christine Q. Paul, Ligi Selhub, Jacob Kipreos, Edward T. TI Bacterial Folates Provide an Exogenous Signal for C. elegans Germline Stem Cell Proliferation SO DEVELOPMENTAL CELL LA English DT Article ID CAENORHABDITIS-ELEGANS; ESCHERICHIA-COLI; RECEPTOR-ALPHA; FOLIC-ACID; CANCER; TRANSPORTER; BIOLOGY; PROTEIN; PHOSPHORYLATION; DEFICIENCY AB Here we describe an in vitro primary culture system for Caenorhabditis elegans germline stem cells. This culture system was used to identify a bacterial folate as a positive regulator of germ cell proliferation. Folates are a family of B-complex vitamins that function in one-carbon metabolism to allow the de novo synthesis of amino acids and nucleosides. We show that germ cell proliferation is stimulated by the folate 10-formyl-tetrahydrofolate-Glun both in vitro and in animals. Other folates that can act as vitamins to rescue folate deficiency lack this germ cell stimulatory activity. The bacterial folate precursor dihydropteroate also promotes germ cell proliferation in vitro and in vivo, despite its inability to promote one-carbon metabolism. The folate receptor homolog FOLR-1 is required for the stimulation of germ cells by 10-formyl-tetrahydrofolate-Glun and dihydropteroate. This work defines a folate and folate-related compound as exogenous signals to modulate germ cell proliferation. C1 [Chaudhari, Snehal N.; Vagasi, Alexandra S.; Nguyen, Christine Q.; Kipreos, Edward T.] Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USA. [Mukherjee, Madhumati; Rahman, Mohammad M.] Univ Georgia, Dept Genet, Athens, GA 30602 USA. [Bi, Gaofeng; Paul, Ligi; Selhub, Jacob] Tufts Univ, Jean Mayer USDA Human Nutr Res Ctr Aging, Boston, MA 02111 USA. [Rahman, Mohammad M.] NIDDK, LCMB, Bethesda, MD 20892 USA. RP Kipreos, ET (reprint author), Univ Georgia, Dept Cellular Biol, Athens, GA 30602 USA. EM ekipreos@uga.edu FU NIH Office of Research Infrastructure Programs [P40 OD010440]; NSF [MCB-1138454]; NIH/NIGMS [R01 GM074212]; United States Department of Agriculture [51520-008-04S] FX We thank M.J. McEachern and members of the Kipreos laboratory for critical comments on the manuscript, as well as M.C. Zetka, D.B. Hausman, and S. Dougan for reagents or resources. Some C. elegans strains were provided by the CGC, which is funded by NIH Office of Research Infrastructure Programs (P40 OD010440). This work was supported by grants from NSF (MCB-1138454) and NIH/NIGMS (R01 GM074212) (E.T.K.), and support from United States Department of Agriculture cooperative agreement 51520-008-04S (J.S.). Any opinions, findings, conclusion, or recommendations expressed in this publication are those of the authors and do not necessarily reflect the view of the United States Department of Agriculture. NR 60 TC 0 Z9 0 U1 10 U2 10 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1534-5807 EI 1878-1551 J9 DEV CELL JI Dev. Cell PD JUL 11 PY 2016 VL 38 IS 1 BP 33 EP 46 DI 10.1016/j.devcel.2016.06.013 PG 14 WC Cell Biology; Developmental Biology SC Cell Biology; Developmental Biology GA DR7IO UT WOS:000380073400008 PM 27404357 ER PT J AU Choi, CH Chung, JY Chung, EJ Sears, JD Lee, JW Bae, DS Hewitt, SM AF Choi, Chel Hun Chung, Joon-Yong Chung, Eun Joo Sears, John D. Lee, Jeong-Won Bae, Duk-Soo Hewitt, Stephen M. TI Prognostic significance of annexin A2 and annexin A4 expression in patients with cervical cancer SO BMC CANCER LA English DT Article DE ANXA2; ANXA4; Prognosis; Survival; Uterine cervical neoplasms ID CLEAR-CELL CARCINOMA; HUMAN-PAPILLOMAVIRUS; HEPATOCELLULAR-CARCINOMA; PROSTATE-CANCER; ENHANCED EXPRESSION; II EXPRESSION; TENASCIN-C; PROGRESSION; IV; MIGRATION AB Background: The annexins (ANXs) have diverse roles in tumor development and progression, however, their clinical significance in cervical cancer has not been elucidated. The present study was to investigate the clinical significance of annexin A2 (ANXA2) and annexin A4 (ANXA4) expression in cervical cancer. Methods: ANXA2 and ANXA4 immunohistochemical staining were performed on a cervical cancer tissue microarray consisting of 46 normal cervical epithelium samples and 336 cervical cancer cases and compared the data with clinicopathological variables, including the survival of cervical cancer patients. Results: ANXA2 expression was lower in cancer tissue (p = 0.002), whereas ANXA4 staining increased significantly in cancer tissues (p < 0.001). ANXA2 expression was more prominent in squamous cell carcinoma (p < 0.001), whereas ANXA4 was more highly expressed in adeno/adenosquamous carcinoma (p < 0.001). ANXA2 overexpression was positively correlated with advanced cancer phenotypes, whereas ANXA4 expression was associated with resistance to radiation with or without chemotherapy (p = 0.029). Notably, high ANXA2 and ANXA4 expression was significantly associated with shorter disease-free survival (p = 0.004 and p = 0.033, respectively). Multivariate analysis indicated that ANXA2+ (HR = 2.72, p = 0.003) and ANXA2+/ANXA4+ (HR = 2.69, p = 0.039) are independent prognostic factors of disease-free survival in cervical cancer. Furthermore, a random survival forest model using combined ANXA2, ANXA4, and clinical variables resulted in improved predictive power (mean C-index, 0.76) compared to that of clinical-variable-only models (mean C-index, 0.70) (p = 0.006). Conclusions: These findings indicate that detecting ANXA2 and ANXA4 expression may aid the evaluation of cervical carcinoma prognosis. C1 [Choi, Chel Hun; Chung, Joon-Yong; Sears, John D.; Hewitt, Stephen M.] NCI, Expt Pathol Lab, Pathol Lab, Ctr Canc Res,NIH, MSC 1500, Bethesda, MD 20892 USA. [Choi, Chel Hun; Lee, Jeong-Won; Bae, Duk-Soo] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Obstet & Gynecol, 50 Irwon Dong, Seoul 135710, South Korea. [Chung, Eun Joo] NCI, Radiat Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Hewitt, SM (reprint author), NCI, Expt Pathol Lab, Pathol Lab, Ctr Canc Res,NIH, MSC 1500, Bethesda, MD 20892 USA.; Bae, DS (reprint author), Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Obstet & Gynecol, 50 Irwon Dong, Seoul 135710, South Korea. EM ds123.bae@samsung.com; genejock@helix.nih.gov RI lee, jw/O-6237-2014; OI Chung, Joon-Yong/0000-0001-5041-5982 FU Basic Science Research Program through the National Research Foundation of Korea (NRF) - Ministry of Education, Republic of Korea [2013R1A1A2013629]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research FX This study was supported in part by a grant from the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Republic of Korea (2013R1A1A2013629) and the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. NR 52 TC 0 Z9 0 U1 3 U2 5 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2407 J9 BMC CANCER JI BMC Cancer PD JUL 11 PY 2016 VL 16 AR 448 DI 10.1186/s12885-016-2459-y PG 11 WC Oncology SC Oncology GA DR6MD UT WOS:000380015100001 PM 27402115 ER PT J AU Goff, SL Dudley, ME Citrin, DE Somerville, RP Wunderlich, JR Danforth, DN Zlott, DA Yang, JC Sherry, RM Kammula, US Klebanoff, CA Hughes, MS Restifo, NP Langhan, MM Shelton, TE Lu, L Kwong, MLM Ilyas, S Klemen, ND Payabyab, EC Morton, KE Toomey, MA Steinberg, SM White, DE Rosenberg, SA AF Goff, Stephanie L. Dudley, Mark E. Citrin, Deborah E. Somerville, Robert P. Wunderlich, John R. Danforth, David N. Zlott, Daniel A. Yang, James C. Sherry, Richard M. Kammula, Udai S. Klebanoff, Christopher A. Hughes, Marybeth S. Restifo, Nicholas P. Langhan, Michelle M. Shelton, Thomas E. Lu, Lily Kwong, Mei Li M. Ilyas, Sadia Klemen, Nicholas D. Payabyab, Eden C. Morton, Kathleen E. Toomey, Mary Ann Steinberg, Seth M. White, Donald E. Rosenberg, Steven A. TI Randomized, Prospective Evaluation Comparing Intensity of Lymphodepletion Before Adoptive Transfer of Tumor-Infiltrating Lymphocytes for Patients With Metastatic Melanoma SO JOURNAL OF CLINICAL ONCOLOGY LA English DT Article ID CELL TRANSFER THERAPY; T-CELLS; UNTREATED MELANOMA; IPILIMUMAB; CANCER; INTERLEUKIN-2; CHEMOTHERAPY; NIVOLUMAB; ANTI-PD-1; EFFICACY AB Purpose Adoptive cell transfer, the infusion of large numbers of activated autologous lymphocytes, can mediate objective tumor regression in a majority of patients with metastatic melanoma (52 of 93; 56%). Addition and intensification of total body irradiation (TBI) to the preparative lymphodepleting chemotherapy regimen in sequential trials improved objective partial and complete response (CR) rates. Here, we evaluated the importance of adding TBI to the adoptive transfer of tumor-infiltrating lymphocytes (TIL) in a randomized fashion. Patients and Methods A total of 101 patients with metastatic melanoma, including 76 patients with M1c disease, were randomly assigned to receive nonmyeloablative chemotherapy with or without 1,200 cGy TBI before transfer of tumor-infiltrating lymphcytes. Primary end points were CR rate (as defined by Response Evaluation Criteria in Solid Tumors v1.0) and overall survival (OS). Clinical and laboratory data were analyzed for correlates of response. Results CR rates were 24% in both groups (12 of 50 v 12 of 51), and OS was also similar (median OS, 38.2 v 36.6 months; hazard ratio, 1.11; 95% CI, 0.65 to 1.91; P=.71). Thrombotic microangiopathy was an adverse event unique to the TBI arm and occurred in 13 of 48 treated patients. With a median potential follow-up of 40.9 months, only one of 24 patients who achieved a CR recurred. Conclusion Adoptive cell transfer can mediate durable complete regressions in 24% of patients with metastatic melanoma, with median survival. 3 years. Results were similar using chemotherapy preparative regimens with or without addition of TBI. (C) 2016 by American Society of Clinical Oncology C1 [Goff, Stephanie L.; Citrin, Deborah E.; Somerville, Robert P.; Wunderlich, John R.; Danforth, David N.; Yang, James C.; Sherry, Richard M.; Kammula, Udai S.; Klebanoff, Christopher A.; Hughes, Marybeth S.; Restifo, Nicholas P.; Langhan, Michelle M.; Shelton, Thomas E.; Lu, Lily; Kwong, Mei Li M.; Ilyas, Sadia; Klemen, Nicholas D.; Payabyab, Eden C.; Morton, Kathleen E.; Toomey, Mary Ann; Steinberg, Seth M.; White, Donald E.; Rosenberg, Steven A.] NCI, NIH, Bethesda, MD 20892 USA. [Zlott, Daniel A.] NIH, Ctr Clin, Bethesda, MD 20892 USA. [Dudley, Mark E.] Novartis Inst BioMed Res, Cambridge, MA USA. RP Goff, SL (reprint author), NCI, Surg Branch, NIH, 10 Ctr Dr,Rm 3-3940, Bethesda, MD 20892 USA. EM stephanie.goff@nih.gov FU Center for Cancer Research at the National Cancer Institute of the US National Institutes of Health FX Supported by the Center for Cancer Research at the National Cancer Institute of the US National Institutes of Health, by a generous gift from the Adelson Medical Research Foundation, and through a cooperative research and development agreement with Lion Biotechnologies. NR 35 TC 11 Z9 11 U1 1 U2 8 PU AMER SOC CLINICAL ONCOLOGY PI ALEXANDRIA PA 2318 MILL ROAD, STE 800, ALEXANDRIA, VA 22314 USA SN 0732-183X EI 1527-7755 J9 J CLIN ONCOL JI J. Clin. Oncol. PD JUL 10 PY 2016 VL 34 IS 20 BP 2389 EP U145 DI 10.1200/JCO.2016.66.7220 PG 16 WC Oncology SC Oncology GA DQ3TW UT WOS:000379127400010 PM 27217459 ER PT J AU Beumer, JH Tawbi, H Ivy, SP AF Beumer, Jan H. Tawbi, Hussein Ivy, S. Percy TI Harmonization of Renal Function Assessment Is Needed Throughout the Whole Process of Anticancer Drug Development Reply SO JOURNAL OF CLINICAL ONCOLOGY LA English DT Letter ID CREATININE C1 [Beumer, Jan H.] Univ Pittsburgh, Pittsburgh, PA USA. [Tawbi, Hussein] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA. [Ivy, S. Percy] NCI, Bethesda, MD 20892 USA. RP Beumer, JH (reprint author), Univ Pittsburgh, Pittsburgh, PA USA. OI Beumer, Jan/0000-0002-8978-9401 FU NCI NIH HHS [P30 CA047904, UM1 CA186690] NR 11 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC CLINICAL ONCOLOGY PI ALEXANDRIA PA 2318 MILL ROAD, STE 800, ALEXANDRIA, VA 22314 USA SN 0732-183X EI 1527-7755 J9 J CLIN ONCOL JI J. Clin. Oncol. PD JUL 10 PY 2016 VL 34 IS 20 BP 2430 EP U195 DI 10.1200/JCO.2016.67.2790 PG 3 WC Oncology SC Oncology GA DQ3TW UT WOS:000379127400017 PM 27185845 ER PT J AU Shi, YH Posse, V Zhu, XF Hyvarinen, AK Jacobs, HT Falkenberg, M Gustafsson, CM AF Shi, Yonghong Posse, Viktor Zhu, Xuefeng Hyvarinen, Anne K. Jacobs, Howard T. Falkenberg, Maria Gustafsson, Claes M. TI Mitochondrial transcription termination factor 1 directs polar replication fork pausing SO NUCLEIC ACIDS RESEARCH LA English DT Article ID DNA-POLYMERASE-GAMMA; IN-VITRO; BINDING PROTEIN; RNA-POLYMERASE; RIBOSOMAL-RNA; FACTOR MTERF; LAGGING-STRAND; HUMAN MTDNA; TWINKLE; CELLS AB During replication of nuclear ribosomal DNA (rDNA), clashes with the transcription apparatus can cause replication fork collapse and genomic instability. To avoid this problem, a replication fork barrier protein is situated downstream of rDNA, there preventing replication in the direction opposite rDNA transcription. A potential candidate for a similar function in mitochondria is the mitochondrial transcription termination factor 1 (MTERF1, also denoted mTERF), which binds to a sequence just downstream of the ribosomal transcription unit. Previous studies have shown that MTERF1 prevents antisense transcription over the ribosomal RNA genes, a process which we here show to be independent of the transcription elongation factor TEFM. Importantly, we now demonstrate that MTERF1 arrests mitochondrial DNA (mtDNA) replication with distinct polarity. The effect is explained by the ability of MTERF1 to act as a directional contrahelicase, blocking mtDNA unwinding by the mitochondrial helicase TWINKLE. This conclusion is also supported by in vivo evidence that MTERF1 stimulates TWINKLE pausing. We conclude that MTERF1 can direct polar replication fork arrest in mammalian mitochondria. C1 [Shi, Yonghong; Posse, Viktor; Zhu, Xuefeng; Falkenberg, Maria; Gustafsson, Claes M.] Univ Gothenburg, Inst Biomed, POB 440, SE-40530 Gothenburg, Sweden. [Shi, Yonghong; Zhu, Xuefeng] NHLBI, Ctr Mol Med, NIH, Bethesda, MD 20892 USA. [Hyvarinen, Anne K.; Jacobs, Howard T.] Univ Tampere, BioMediTech, FI-33014 Tampere, Finland. [Hyvarinen, Anne K.; Jacobs, Howard T.] Univ Tampere, Tampere Univ Hosp, FI-33014 Tampere, Finland. [Jacobs, Howard T.] Univ Helsinki, Inst Biotechnol, FI-00014 Helsinki, Finland. RP Falkenberg, M; Gustafsson, CM (reprint author), Univ Gothenburg, Inst Biomed, POB 440, SE-40530 Gothenburg, Sweden. EM maria.falkenberg@medkem.gu.se; claes.gustafsson@medkem.gu.se RI shi, yonghong/E-8254-2017 OI shi, yonghong/0000-0002-5265-7982 FU Swedish Research Council [2013-3621, 2012-2583]; Swedish Cancer Foundation; European Research Council [261248, 268897]; IngaBritt and Arne Lundberg foundation; Knut and Alice Wallenbergs foundation; Academy of Finland (FinMIT Centre of Excellence) [118654, 256615] FX Swedish Research Council grants [2013-3621 to M.F., 2012-2583 to C.M.G.]; Swedish Cancer Foundation (to M.F. and C.M.G.); European Research Council [261248 to M.F., 268897 to C.G.]; IngaBritt and Arne Lundberg foundation (to M.F.); Knut and Alice Wallenbergs foundation (to M.F. and C.M.G.); Academy of Finland (FinMIT Centre of Excellence 118654 and Professorship 256615 to H.T.J.). Funding for open access charge: European Research Council. NR 53 TC 0 Z9 0 U1 4 U2 4 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0305-1048 EI 1362-4962 J9 NUCLEIC ACIDS RES JI Nucleic Acids Res. PD JUL 8 PY 2016 VL 44 IS 12 BP 5732 EP 5742 DI 10.1093/nar/gkw302 PG 11 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DT0ZG UT WOS:000381210900024 PM 27112570 ER PT J AU Thomas, MA Nyanhete, T Tuero, I Venzon, D Robert-Guroff, M AF Thomas, Michael A. Nyanhete, Tinashe Tuero, Iskra Venzon, David Robert-Guroff, Marjorie TI Beyond Oncolytics: E1B55K-Deleted Adenovirus as a Vaccine Delivery Vector SO PLOS ONE LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; T-CELL RESPONSES; RHESUS MACAQUES; PROTECTIVE EFFICACY; IMMUNE-RESPONSES; E1B PROTEINS; CHALLENGE; IMMUNIZATION; EXPRESSION; REPLICATION AB Type 5 human adenoviruses (Ad5) deleted of genes encoding the early region 1B 55-kDa (E1B55K) protein including Onyx-015 (dl1520) and H101 are best known for their oncolytic potential. As a vaccine vector the E1B55K deletion may allow for the insertion of a transgene nearly 1,000 base pairs larger than now possible. This has the potential of extending the application for which the vectors are clinically known. However, the immune priming ability of E1B55K-deleted vectors is unknown, undermining our ability to gauge their usefulness in vaccine applications. For this reason, we created an E1B55K-deleted Ad5 vector expressing full-length single chain HIV(BaL)gp120 attached to a flexible linker and the first two domains of rhesus CD4 (rhFLSC) in exchange for the E3 region. In cell-based experiments the E1B55K-deleted vector promoted higher levels of innate immune signals including chemokines, cytokines, and the NKG2D ligands MIC A/B compared to an E1B55K wild-type vector expressing the same immunogen. Based on these results we evaluated the immune priming ability of the E1B55K-deleted vector in mice. The E1B55K-deleted vector promoted similar levels of Ad5-, HIVgp120, and rhFLSC-specific cellular and humoral immune responses as the E1B55K wild-type vector. In pre-clinical HIV-vaccine studies the wild-type vector has been employed as part of a very effective prime-boost strategy. This study demonstrates that E1B55K-deleted adenoviruses may serve as effective vaccine delivery vectors. C1 [Thomas, Michael A.; Nyanhete, Tinashe; Tuero, Iskra; Robert-Guroff, Marjorie] NCI, Sect Immune Biol Retroviral Infect, Vaccine Branch, NIH, Bethesda, MD USA. [Venzon, David] NCI, Biostat & Data Management Sect, NIH, Bethesda, MD USA. [Thomas, Michael A.] Howard Univ, Dept Biol, Washington, DC USA. [Nyanhete, Tinashe] Duke Univ, Durham, NC USA. RP Thomas, MA; Robert-Guroff, M (reprint author), NCI, Sect Immune Biol Retroviral Infect, Vaccine Branch, NIH, Bethesda, MD USA.; Thomas, MA (reprint author), Howard Univ, Dept Biol, Washington, DC USA. EM michael.thomas1@howard.edu; guroffm@mail.nih.gov FU Pathway to Independence Award (K99) [1K99AI114379 - 01]; Intramural Research Program of the National Institutes of Health, National Cancer Institute FX This work was supported by a Pathway to Independence Award (K99) Grant Number 1K99AI114379 - 01 to MAT and by the Intramural Research Program of the National Institutes of Health, National Cancer Institute to MRG. NR 29 TC 0 Z9 0 U1 5 U2 5 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 8 PY 2016 VL 11 IS 7 AR e0158505 DI 10.1371/journal.pone.0158505 PG 17 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR6IK UT WOS:000380005400072 PM 27391605 ER PT J AU Valm, AM Oldenbourg, R Borisy, GG AF Valm, Alex M. Oldenbourg, Rudolf Borisy, Gary G. TI Multiplexed Spectral Imaging of 120 Different Fluorescent Labels SO PLOS ONE LA English DT Article ID ARCHITECTURE; MICROSCOPY; PROTEINS AB The number of fluorescent labels that can unambiguously be distinguished in a single image when acquired through band pass filters is severely limited by the spectral overlap of available fluorophores. The recent development of spectral microscopy and the application of linear unmixing algorithms to spectrally recorded image data have allowed simultaneous imaging of fluorophores with highly overlapping spectra. However, the number of distinguishable fluorophores is still limited by the unavoidable decrease in signal to noise ratio when fluorescence signals are fractionated over multiple wavelength bins. Here we present a spectral image analysis algorithm to greatly expand the number of distinguishable objects labeled with binary combinations of fluorophores. Our algorithm utilizes a priori knowledge about labeled specimens and imposes a binary label constraint on the unmixing solution. We have applied our labeling and analysis strategy to identify microbes labeled by fluorescence in situ hybridization and here demonstrate the ability to distinguish 120 differently labeled microbes in a single image. C1 [Valm, Alex M.; Oldenbourg, Rudolf] Marine Biol Lab, Woods Hole, MA 02543 USA. [Valm, Alex M.; Oldenbourg, Rudolf] Brown Univ, Providence, RI 02912 USA. [Borisy, Gary G.] Forsyth Inst, Cambridge, MA USA. [Valm, Alex M.] NICHHD, NIH, NIH NICHD, Bethesda, MD 20892 USA. RP Valm, AM (reprint author), Marine Biol Lab, Woods Hole, MA 02543 USA.; Valm, AM (reprint author), Brown Univ, Providence, RI 02912 USA.; Valm, AM (reprint author), NICHHD, NIH, NIH NICHD, Bethesda, MD 20892 USA. EM Alex.Valm@nih.gov FU Alfred P. Sloan Foundation [2007-3-13]; National Institutes of Health from the National Institute of Dental and Craniofacial Research (NIDCR) [1RC1-DE020630]; National Institutes of Health from NIDCR [1F31-DE019576] FX This work was supported by Grant 2007-3-13 from the Alfred P. Sloan Foundation (to GGB), National Institutes of Health Grant 1RC1-DE020630 from the National Institute of Dental and Craniofacial Research (NIDCR) (to GGB) and by National Institutes of Health Fellowship 1F31-DE019576 from NIDCR (to AMV). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 17 TC 0 Z9 0 U1 2 U2 3 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 8 PY 2016 VL 11 IS 7 AR e0158495 DI 10.1371/journal.pone.0158495 PG 17 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR6IK UT WOS:000380005400069 PM 27391327 ER PT J AU Li, MH Simonetti, FL Goncearenco, A Panchenko, AR AF Li, Minghui Simonetti, Franco L. Goncearenco, Alexander Panchenko, Anna R. TI MutaBind estimates and interprets the effects of sequence variants on protein-protein interactions SO NUCLEIC ACIDS RESEARCH LA English DT Article ID MISSENSE MUTATIONS; BINDING-AFFINITY; FREE-ENERGIES; DYNAMICS; STABILITY; MODELS; IMPACT AB Proteins engage in highly selective interactions with their macromolecular partners. Sequence variants that alter protein binding affinity may cause significant perturbations or complete abolishment of function, potentially leading to diseases. There exists a persistent need to develop a mechanistic understanding of impacts of variants on proteins. To address this need we introduce a new computational method MutaBind to evaluate the effects of sequence variants and disease mutations on protein interactions and calculate the quantitative changes in binding affinity. The MutaBind method uses molecular mechanics force fields, statistical potentials and fast side-chain optimization algorithms. The MutaBind server maps mutations on a structural protein complex, calculates the associated changes in binding affinity, determines the deleterious effect of a mutation, estimates the confidence of this prediction and produces a mutant structural model for download. MutaBind can be applied to a large number of problems, including determination of potential driver mutations in cancer and other diseases, elucidation of the effects of sequence variants on protein fitness in evolution and protein design. MutaBind is available at http://www.ncbi.nlm.nih.gov/projects/mutabind/. C1 [Li, Minghui; Goncearenco, Alexander; Panchenko, Anna R.] NIH, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. [Simonetti, Franco L.] Inst Leloir Fdn, C1405BWE, Buenos Aires, DF, Argentina. RP Panchenko, AR (reprint author), NIH, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. EM panch@ncbi.nlm.nih.gov RI Goncearenco, Alexander/M-3946-2015 OI Goncearenco, Alexander/0000-0002-9738-7146 FU Intramural Research Program of the National Library of Medicine at the U.S. National Institutes of Health; Argentine Government/BEC.AR; Argentine Fulbright Commission; National Science Foundation (NSF) [PHY11-25915]; National Institutes of Health FX Intramural Research Program of the National Library of Medicine at the U.S. National Institutes of Health (to M.L., A.G., A.R.P.); Argentine Government/BEC.AR (to F.L.S.); Argentine Fulbright Commission (to F.L.S.); National Science Foundation [NSF PHY11-25915, in part]. Funding for open access charge: National Institutes of Health. NR 32 TC 3 Z9 3 U1 2 U2 5 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0305-1048 EI 1362-4962 J9 NUCLEIC ACIDS RES JI Nucleic Acids Res. PD JUL 8 PY 2016 VL 44 IS W1 BP W494 EP W501 DI 10.1093/nar/gkw374 PG 8 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR3FA UT WOS:000379786800081 PM 27150810 ER PT J AU Hao, M Bryant, SH Wang, YL AF Hao, Ming Bryant, Stephen H. Wang, Yanli TI Cheminformatics analysis of the AR agonist and antagonist datasets in PubChem SO JOURNAL OF CHEMINFORMATICS LA English DT Article ID MOLECULAR PAIR ANALYSIS; ACTIVITY CLIFFS; SYSTEMATIC IDENTIFICATION; EFFICIENT ALGORITHM; BIOASSAY DATA; DATA SETS; INHIBITORS; DRUGS; SCAFFOLDS AB Background: As one of the largest publicly accessible databases for hosting chemical structures and biological activities, PubChem has been processing bioassay submissions from the community since 2004. With the increase in volume for the deposited data in PubChem, the diversity and wealth of information content also grows. Recently, the Tox21 program, has deposited a series of pairwise data in PubChem regarding to different mechanism of actions (MOA), such as androgen receptor (AR) agonist and antagonist datasets, to study cell toxicity. To the best of our knowledge, little work has been reported from cheminformatics study for these especially pairwise datasets, which may provide insight into the mechanism of actions of the compounds and relationship between chemical structures and functions, as well as guidance for lead compound selection and optimization. Thus, to fill the gap, we performed a comprehensive cheminformatics analysis, including scaffold analysis, matched molecular pair (MMP) analysis as well as activity cliff analysis to investigate the structural characteristics and discontinued structure-activity relationship of the individual dataset (i.e., AR agonist dataset or AR antagonist dataset) and the combined dataset (i.e., the common compounds between the AR agonist and antagonist datasets). Results: Scaffolds associated only with potential agonists or antagonists were identified. MMP-based activity cliffs, as well as a small group of compounds with dual MOA reported were recognized and analyzed. Moreover, MOA-cliff, a novel concept, was proposed to indicate one pair of structurally similar molecules which exhibit opposite MOA. Conclusions: Cheminformatics methods were successfully applied to the pairwise AR datasets and the identified molecular scaffold characteristics, MMPs as well as activity cliffs might provide useful information when designing new lead compounds for the androgen receptor. C1 [Hao, Ming; Bryant, Stephen H.; Wang, Yanli] NIH, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. RP Wang, YL (reprint author), NIH, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. EM ywang@ncbi.nlm.nih.gov FU Intramural Research Program of the NIH, National Library of Medicine FX This research was supported by the Intramural Research Program of the NIH, National Library of Medicine. NR 33 TC 0 Z9 0 U1 3 U2 3 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1758-2946 J9 J CHEMINFORMATICS JI J. Cheminformatics PD JUL 8 PY 2016 VL 8 AR 37 DI 10.1186/s13321-016-0150-6 PG 13 WC Chemistry, Multidisciplinary; Computer Science, Information Systems; Computer Science, Interdisciplinary Applications SC Chemistry; Computer Science GA DQ6OB UT WOS:000379323500001 PM 27398098 ER PT J AU Deleage, C Schuetz, A Alvord, WG Johnston, L Hao, XP Morcock, DR Rerknimitr, R Fletcher, JLK Puttamaswin, S Phanuphak, N Dewar, R McCune, JM Sereti, I Robb, M Kim, JH Schacker, TW Hunt, P Lifson, JD Ananworanich, J Estes, JD AF Deleage, Claire Schuetz, Alexandra Alvord, W. Gregory Johnston, Leslie Hao, Xing-Pei Morcock, David R. Rerknimitr, Rungsun Fletcher, James L. K. Puttamaswin, Suwanna Phanuphak, Nittaya Dewar, Robin McCune, Joseph M. Sereti, Irini Robb, Merlin Kim, Jerome H. Schacker, Timothy W. Hunt, Peter Lifson, Jeffrey D. Ananworanich, Jintanat Estes, Jacob D. CA RV254 SEARCH Study Grp RV304 SEARCH Study Grp TI Impact of early cART in the gut during acute HIV infection SO JCI INSIGHT LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; T-CELL-ACTIVATION; MUCOSAL IMMUNE RECONSTITUTION; ACTIVE ANTIRETROVIRAL THERAPY; LYMPHOID-TISSUE; MICROBIAL TRANSLOCATION; LENTIVIRAL INFECTIONS; SYSTEMIC INFLAMMATION; EPITHELIAL BARRIER; VIRAL RESERVOIRS AB Early after HIV infection there is substantial depletion of CD4(+) T cells in the gastrointestinal (GI) tract lamina propria (LP), with associated epithelial barrier damage, leading to microbial translocation and systemic inflammation and immune activation. In this study, we analyzed these early events in the GI tract in a cohort of Thai acute HIV-infected patients and determined the effect of early combination antiretroviral treatment (cART). HIV-uninfected and chronically and acutely HIV-infected patients at different Fiebig stages (I-V) underwent colonic biopsies and then received cART. Immunohistochemistry and quantitative image analysis were performed on cross-sectional and longitudinal colon biopsy specimens (day 0 to week 96) to measure GI tract damage (infiltration of polymorphonuclear cells), inflammation (Mx1, TNF-alpha), immune activation (Ki-67), and the CD4(+) T cell population in the LP. The magnitude of GI tract damage, immune activation, and inflammation was significantly increased, with significantly depleted CD4(+) T cells in the LP in all acutely infected groups prior to cART compared with HIV-uninfected control participants. While most patients treated during acute infection resolved GI tract inflammation and immune activation back to baseline levels after 24 weeks of cART, most acutely infected participants did not restore their CD4(+) T cells after 96 weeks of cART. C1 [Deleage, Claire; Johnston, Leslie; Morcock, David R.; Lifson, Jeffrey D.; Estes, Jacob D.] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, AIDS & Canc Virus Program, Frederick, MD USA. [Schuetz, Alexandra] Armed Forces Res Inst Med Sci, Dept Retrovirol, Bangkok, Thailand. [Schuetz, Alexandra; Robb, Merlin; Kim, Jerome H.; Ananworanich, Jintanat] Henry M Jackson Fdn Adv Mil Med, US Mil HIV Res Program, Bethesda, MD USA. [Alvord, W. Gregory] Data Management Serv Inc, Stat Consulting, Frederick, MD USA. [Hao, Xing-Pei] Leidos Biomedical Res Inc, Frederick Natl Lab Canc Res, Pathol & Histotechnol Lab, Frederick, MD USA. [Rerknimitr, Rungsun] Chulalongkorn Univ, Bangkok, Thailand. [Fletcher, James L. K.; Puttamaswin, Suwanna; Phanuphak, Nittaya; Kim, Jerome H.; Ananworanich, Jintanat] SEARCH, Bangkok, Thailand. [Fletcher, James L. K.; Puttamaswin, Suwanna; Phanuphak, Nittaya] Thai Red Cross AIDS Res Ctr, Bangkok, Thailand. [Dewar, Robin] NCI, Virus Isolat & Serol Lab, Appl & Dev Res Directorate, Sci Applicat Int Corp,Frederick Inc,Frederick Can, Frederick, MD 21701 USA. [McCune, Joseph M.] UCSF, Dept Med, Div Expt Med, San Francisco, CA USA. [Sereti, Irini] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Kim, Jerome H.] Int Vaccine Inst, Seoul, South Korea. [Schacker, Timothy W.] Univ Minnesota, Dept Med, Box 736 UMHC, Minneapolis, MN 55455 USA. [Hunt, Peter] UCSF, Dept Med, Posit Hlth Program, San Francisco, CA USA. RP Estes, JD (reprint author), Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, 1050 Boyles St,Bldg 535,Rm 411, Frederick, MD 21702 USA. EM estesj@mail.nih.gov NR 71 TC 2 Z9 2 U1 1 U2 1 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 35 RESEARCH DR, STE 300, ANN ARBOR, MI 48103 USA SN 2379-3708 J9 JCI INSIGHT JI JCI Insight PD JUL 7 PY 2016 VL 1 IS 10 AR e87065 DI 10.1172/jci.insight.87065 PG 18 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EB1LL UT WOS:000387113300015 ER PT J AU Myles, IA Williams, KW Reckhow, JD Jammeh, ML Pincus, NB Sastalla, I Saleem, D Stone, KD Datta, SK AF Myles, Ian A. Williams, Kelli W. Reckhow, Jensen D. Jammeh, Momodou L. Pincus, Nathan B. Sastalla, Inka Saleem, Danial Stone, Kelly D. Datta, Sandip K. TI Transplantation of human skin microbiota in models of atopic dermatitis SO JCI INSIGHT LA English DT Article ID DESORPTION IONIZATION-TIME; FLIGHT MASS-SPECTROMETRY; THYMIC STROMAL LYMPHOPOIETIN; TRANSEPIDERMAL WATER-LOSS; STAPHYLOCOCCUS-AUREUS; METHICILLIN-RESISTANT; GENE POLYMORPHISM; DOUBLE-BLIND; VITAMIN-D; BARRIER AB Atopic dermatitis (AD) is characterized by reduced barrier function, reduced innate immune activation, and susceptibility to Staphylococcus aureus. Host susceptibility factors are suggested by monogenic disorders associated with AD-like phenotypes and can be medically modulated. S. aureus contributes to AD pathogenesis and can be mitigated by antibiotics and bleach baths. Recent work has revealed that the skin microbiome differs significantly between healthy controls and patients with AD, including decreased Gram-negative bacteria in AD. However, little is known about the potential therapeutic benefit of microbiome modulation. To evaluate whether parameters of AD pathogenesis are altered after exposure to different culturable Gram-negative bacteria (CGN) collected from human skin, CGN were collected from healthy controls and patients with AD. Then, effects on cellular and culture-based models of immune, epithelial, and bacterial function were evaluated. Representative strains were evaluated in the MC903 mouse model of AD. We found that CGN taken from healthy volunteers but not from patients with AD were associated with enhanced barrier function, innate immunity activation, and control of S. aureus. Treatment with CGN from healthy controls improved outcomes in a mouse model of AD. These findings suggest that a live-biotherapeutic approach may hold promise for treatment of patients with AD. C1 [Myles, Ian A.; Williams, Kelli W.; Reckhow, Jensen D.; Jammeh, Momodou L.; Pincus, Nathan B.; Sastalla, Inka; Saleem, Danial; Datta, Sandip K.] NIAID, Bacterial Pathogenesis Unit, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Stone, Kelly D.] NIAID, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Myles, IA; Datta, SK (reprint author), 9000 Rockville Pike,Bldg 33,Room 2W10A, Bethesda, MD 20892 USA. EM mylesi@niaid.nih.gov; dattas@niaid.nih.gov OI Datta, Sandip/0000-0003-0243-7815 NR 53 TC 4 Z9 4 U1 3 U2 3 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 35 RESEARCH DR, STE 300, ANN ARBOR, MI 48103 USA SN 2379-3708 J9 JCI INSIGHT JI JCI Insight PD JUL 7 PY 2016 VL 1 IS 10 AR e86955 DI 10.1172/jci.insight.86955 PG 10 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EB1LL UT WOS:000387113300013 ER PT J AU Liu, CT Raghavan, S Maruthur, N Kabagambe, EK Hong, J Ng, MCY Hivert, MF Lu, YC An, P Bentley, AR Drolet, AM Gaulton, KJ Guo, XQ Armstrong, LL Irvin, MR Li, M Lipovich, L Rybin, DV Taylor, KD Agyemang, C Palmer, ND Cade, BE Chen, WM Dauriz, M Delaney, JAC Edwards, TL Evans, DS Evans, MK Lange, LA Leong, A Liu, JM Liu, YM Nayak, U Patel, SR Porneala, BC Rasmussen-Torvik, LJ Snijder, MB Stallings, SC Tanaka, T Yanek, LR Zhao, W Becker, DM Bielak, LF Biggs, ML Bottinger, EP Bowden, DW Chen, GJ Correa, A Couper, DJ Crawford, DC Cushman, M Eicher, JD Fornage, M Franceschini, N Fu, YP Goodarzi, MO Gottesman, O Hara, K Harris, TB Jensen, RA Johnson, AD Jhun, MA Karter, AJ Keller, MF Kho, AN Kizer, JR Krauss, RM Langefeld, CD Li, XH Liang, JL Liu, SM Lowe, WL Mosley, TH North, KE Pacheco, JA Peyser, PA Patrick, AL Rice, KM Selvin, E Sims, M Smith, JA Tajuddin, SM Vaidya, D Wren, MP Yao, J Zhu, XF Ziegler, JT Zmuda, JM Zonderman, AB Zwinderman, AH Adeyemo, A Boerwinkle, E Ferrucci, L Hayes, MG Kardia, SLR Miljkovic, I Pankow, JS Rotimi, CN Sale, MM Wagenknecht, LE Arnett, DK Chen, YDI Nalls, MA Province, MA Kao, WHL Siscovick, DS Psaty, BM Wilson, JG Loos, RJF Dupuis, J Rich, SS Florez, JC Rotter, JI Morris, AP Meigs, JB AF Liu, Ching-Ti Raghavan, Sridharan Maruthur, Nisa Kabagambe, Edmond Kato Hong, Jaeyoung Ng, Maggie C. Y. Hivert, Marie-France Lu, Yingchang An, Ping Bentley, Amy R. Drolet, Anne M. Gaulton, Kyle J. Guo, Xiuqing Armstrong, Loren L. Irvin, Marguerite R. Li, Man Lipovich, Leonard Rybin, Denis V. Taylor, Kent D. Agyemang, Charles Palmer, Nicholette D. Cade, Brian E. Chen, Wei-Min Dauriz, Marco Delaney, Joseph A. C. Edwards, Todd L. Evans, Daniel S. Evans, Michele K. Lange, Leslie A. Leong, Aaron Liu, Jingmin Liu, Yongmei Nayak, Uma Patel, Sanjay R. Porneala, Bianca C. Rasmussen-Torvik, Laura J. Snijder, Marieke B. Stallings, Sarah C. Tanaka, Toshiko Yanek, Lisa R. Zhao, Wei Becker, Diane M. Bielak, Lawrence F. Biggs, Mary L. Bottinger, Erwin P. Bowden, Donald W. Chen, Guanjie Correa, Adolfo Couper, David J. Crawford, Dana C. Cushman, Mary Eicher, John D. Fornage, Myriam Franceschini, Nora Fu, Yi-Ping Goodarzi, Mark O. Gottesman, Omri Hara, Kazuo Harris, Tamara B. Jensen, Richard A. Johnson, Andrew D. Jhun, Min A. Karter, Andrew J. Keller, Margaux F. Kho, Abel N. Kizer, Jorge R. Krauss, Ronald M. Langefeld, Carl D. Li, Xiaohui Liang, Jingling Liu, Simin Lowe, William L., Jr. Mosley, Thomas H. North, Kari E. Pacheco, Jennifer A. Peyser, Patricia A. Patrick, Alan L. Rice, Kenneth M. Selvin, Elizabeth Sims, Mario Smith, Jennifer A. Tajuddin, Salman M. Vaidya, Dhananjay Wren, Mary P. Yao, Jie Zhu, Xiaofeng Ziegler, Julie T. Zmuda, Joseph M. Zonderman, Alan B. Zwinderman, Aeilko H. Adeyemo, Adebowale Boerwinkle, Eric Ferrucci, Luigi Hayes, M. Geoffrey Kardia, Sharon L. R. Miljkovic, Iva Pankow, James S. Rotimi, Charles N. Sale, Michele M. Wagenknecht, Lynne E. Arnett, Donna K. Chen, Yii-Der Ida Nalls, Michael A. Province, Michael A. Kao, W. H. Linda Siscovick, David S. Psaty, Bruce M. Wilson, James G. Loos, Ruth J. F. Dupuis, Josee Rich, Stephen S. Florez, Jose C. Rotter, Jerome I. Morris, Andrew P. Meigs, James B. CA AAAG Consortium CARe Consortium COGENT-BP Consortium eMERGE Consortium MEDIA Consortium MAGIC Consortium TI Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID GENOME-WIDE ASSOCIATION; TYPE-2 DIABETES RISK; GLUCOKINASE REGULATORY PROTEIN; BETA-CELL FUNCTION; BODY-MASS INDEX; TRIGLYCERIDE LEVELS; PLASMA-GLUCOSE; TRANSETHNIC METAANALYSIS; AFRICAN-ANCESTRY; GLYCEMIC TRAITS AB Knowledge of the genetic basis of the type 2 diabetes (T2D)-related quantitative traits fasting glucose (FG) and insulin (FI) in African ancestry (AA) individuals has been limited. In non-diabetic subjects of AA (n = 20,209) and European ancestry (EA; n = 57,292), we performed trans-ethnic (AA+EA) fine-mapping of 54 established EA FG or FI loci with detailed functional annotation, assessed their relevance in AA individuals, and sought previously undescribed loci through trans-ethnic (AA+EA) meta-analysis. We narrowed credible sets of variants driving association signals for 22/54 EA-associated loci; 18/22 credible sets overlapped with active islet-specific enhancers or transcription factor (TF) binding sites, and 21/22 contained at least one TF motif. Of the 54 EA-associated loci, 23 were shared between EA and AA. Replication with an additional 10,096 AA individuals identified two previously undescribed FI loci, chrX FAM133A (rs213676) and chr5 PELO (rs6450057). Trans-ethnic analyses with regulatory annotation illuminate the genetic architecture of glycemic traits and suggest gene regulation as a target to advance precision medicine for T2D. Our approach to utilize state-of-the-art functional annotation and implement trans-ethnic association analysis for discovery and fine-mapping offers a framework for further follow-up and characterization of GWAS signals of complex trait loci. C1 [Liu, Ching-Ti; Hong, Jaeyoung; Rybin, Denis V.; Dupuis, Josee] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA. [Raghavan, Sridharan; Leong, Aaron; Porneala, Bianca C.; Meigs, James B.] Harvard Med Sch, Massachusetts Gen Hosp, Div Gen Internal Med, Boston, MA 02114 USA. [Raghavan, Sridharan] Eastern Colorado Hlth Care Syst, Dept Vet Affairs Med Ctr, Denver, CO 80220 USA. [Raghavan, Sridharan] Univ Colorado, Sch Med, Dept Med, Div Gen Internal Med, Denver, CO 80220 USA. [Maruthur, Nisa] Johns Hopkins Univ, Sch Med, Div Gen Internal Med, Baltimore, MD 21287 USA. [Maruthur, Nisa; Selvin, Elizabeth] Johns Hopkins Univ, Welch Ctr Prevent Epidemiol & Clin Res, Baltimore, MD 21287 USA. [Maruthur, Nisa; Li, Man; Selvin, Elizabeth; Vaidya, Dhananjay; Kao, W. H. Linda] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21287 USA. [Kabagambe, Edmond Kato; Edwards, Todd L.] Vanderbilt Univ, Med Ctr, Sch Med, Div Epidemiol,Dept Med, Nashville, TN 37203 USA. [Ng, Maggie C. Y.; Palmer, Nicholette D.; Bowden, Donald W.] Wake Forest Univ, Sch Med, Ctr Genom & Personalized Med Res, Winston Salem, NC 27157 USA. [Ng, Maggie C. Y.; Bowden, Donald W.] Wake Forest Univ, Bowman Gray Sch Med, Ctr Diabet Res, Winston Salem, NC 27157 USA. [Hivert, Marie-France] Harvard Med Sch, Harvard Pilgrim Hlth Care Inst, Dept Populat Med, Boston, MA 02215 USA. [Hivert, Marie-France; Florez, Jose C.] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA. [Hivert, Marie-France] Univ Sherbrooke, Dept Med, Sherbrooke, PQ J1G 0A2, Canada. [Lu, Yingchang; Bottinger, Erwin P.; Gottesman, Omri; Hara, Kazuo; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA. [Lu, Yingchang; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA. [An, Ping; Province, Michael A.] Washington Univ, Sch Med, Dept Genet, Div Stat Genom, St Louis, MO 63108 USA. [Bentley, Amy R.; Chen, Guanjie; Adeyemo, Adebowale; Rotimi, Charles N.] NHGRI, Ctr Res Genom & Global Hlth, NIH, Bethesda, MD 20892 USA. [Drolet, Anne M.; Lipovich, Leonard] Wayne State Univ, Sch Med, Ctr Mol Med & Genet, Detroit, MI 48201 USA. [Gaulton, Kyle J.; Morris, Andrew P.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England. [Guo, Xiuqing; Taylor, Kent D.; Li, Xiaohui; Yao, Jie; Chen, Yii-Der Ida; Rotter, Jerome I.] Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA. [Armstrong, Loren L.; Kho, Abel N.; Lowe, William L., Jr.; Pacheco, Jennifer A.; Hayes, M. Geoffrey] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA. [Irvin, Marguerite R.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35294 USA. [Lipovich, Leonard] Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48201 USA. [Agyemang, Charles; Snijder, Marieke B.; Zwinderman, Aeilko H.] Acad Med Ctr Amsterdam, Dept Publ Hlth, Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands. [Palmer, Nicholette D.; Bowden, Donald W.; Wren, Mary P.] Wake Forest Univ, Bowman Gray Sch Med, Dept Biochem, Winston Salem, NC 27157 USA. [Cade, Brian E.] Harvard Med Sch, Brigham & Womens Hosp, Div Sleep & Circadian Disorders, Boston, MA 02115 USA. [Chen, Wei-Min; Nayak, Uma; Sale, Michele M.; Rich, Stephen S.] Univ Virginia, Sch Med, Dept Publ Hlth Sci, Ctr Publ Hlth Genom, Charlottesville, VA 22908 USA. [Dauriz, Marco] Univ Verona, Dept Med, Div Endocrinol Diabet & Metab, I-37126 Verona, Italy. [Delaney, Joseph A. C.; Siscovick, David S.; Psaty, Bruce M.] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA. [Evans, Daniel S.] Calif Pacific Med Ctr, Res Inst, San Francisco, CA 94107 USA. [Evans, Michele K.; Tajuddin, Salman M.] NIA, Hlth Dispar Res Sect, Lab Epidemiol & Populat Sci, NIH, Baltimore, MD 21224 USA. [Lange, Leslie A.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27607 USA. [Liu, Jingmin] Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA. [Liu, Yongmei] Wake Forest Univ, Bowman Gray Sch Med, Div Publ Hlth Sci, Ctr Human Genet, Winston Salem, NC 27157 USA. [Patel, Sanjay R.] Univ Pittsburgh, Dept Med, Pittsburgh, PA 15213 USA. [Rasmussen-Torvik, Laura J.] Northwestern Univ, Feinberg Sch Med, Dept Prevent Med, Chicago, IL 60611 USA. [Tanaka, Toshiko; Ferrucci, Luigi] NIA, Translat Gerontol Branch, Harbor Hosp, Baltimore, MD 21225 USA. [Yanek, Lisa R.; Becker, Diane M.; Vaidya, Dhananjay] Johns Hopkins Univ, Dept Med, Div Gen Internal Med, GeneSTAR Res Program, Baltimore, MD 21287 USA. [Zhao, Wei; Bielak, Lawrence F.; Jhun, Min A.; Peyser, Patricia A.; Smith, Jennifer A.; Kardia, Sharon L. R.] Univ Michigan, Sch Publ Hlth, Dept Epidemiol, Ann Arbor, MI 48109 USA. [Becker, Diane M.] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Hlth Policy & Management, Baltimore, MD 21287 USA. [Biggs, Mary L.; Rice, Kenneth M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Biggs, Mary L.; Jensen, Richard A.; Siscovick, David S.; Psaty, Bruce M.] Univ Washington, Sch Med, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA. [Correa, Adolfo; Sims, Mario] Univ Mississippi, Med Ctr, Dept Med, Jackson, MS 39216 USA. [Couper, David J.] Univ N Carolina, Gillings Sch Global Publ Hlth, Dept Biostat, Collaborat Studies Coordinating Ctr, Chapel Hill, NC 27514 USA. [Crawford, Dana C.] Case Western Reserve Univ, Inst Computat Biol, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA. [Cushman, Mary] Univ Vermont, Coll Med, Dept Pathol & Med, Burlington, VT 05405 USA. [Eicher, John D.; Dupuis, Josee] NHLBI, Framingham Heart Study, Framingham, MA 01702 USA. [Eicher, John D.; Johnson, Andrew D.] NHLBI, Populat Sci Branch, Div Intramural Res, NIH, Framingham, MA 01702 USA. [Fornage, Myriam; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Inst Mol Med, Houston, TX 77030 USA. [Fornage, Myriam; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA. [Franceschini, Nora; North, Kari E.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC 27514 USA. [Fu, Yi-Ping] NHLBI, Cardiovasc Epidemiol & Human Genom Branch, NIH, Framingham, MA 01702 USA. [Goodarzi, Mark O.] Cedars Sinai Med Ctr, Div Endocrinol Diabet & Metab, Los Angeles, CA 90048 USA. [Hara, Kazuo] Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo 1138655, Japan. [Hara, Kazuo] Tokyo Med Univ, Dept Diabet Endocrinol & Metab, Tokyo 1630023, Japan. [Harris, Tamara B.] NIH, Lab Epidemiol & Populat Sci, Bethesda, MD 20892 USA. [Karter, Andrew J.] Kaiser Permanente, Div Res, Oakland, CA 94612 USA. [Keller, Margaux F.] Merck Res Labs, Dept Genet & Pharmacogen, 33 Ave Louis Pasteur, Boston, MA 02115 USA. [Kizer, Jorge R.] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Med, Bronx, NY 10461 USA. [Kizer, Jorge R.] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10461 USA. [Krauss, Ronald M.] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA. [Langefeld, Carl D.; Ziegler, Julie T.] Wake Forest Univ, Bowman Gray Sch Med, Ctr Publ Hlth Genom, Winston Salem, NC 27157 USA. [Langefeld, Carl D.; Ziegler, Julie T.] Wake Forest Univ, Bowman Gray Sch Med, Dept Biostat Sci, Winston Salem, NC 27157 USA. [Liang, Jingling; Zhu, Xiaofeng] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA. [Liu, Simin] Brown Univ, Dept Epidemiol, Providence, RI 02912 USA. [Liu, Simin] Brown Univ, Dept Med, Providence, RI 02903 USA. [Mosley, Thomas H.] Univ Mississippi, Med Ctr, Dept Med, Div Geriatr Gerontol, Jackson, MS 39216 USA. [Patrick, Alan L.] Tobago Hlth Studies Off, Scarborough, Trinid & Tobago. [Zmuda, Joseph M.; Miljkovic, Iva] Univ Pittsburgh, Dept Epidemiol, Pittsburgh, PA 15213 USA. [Zonderman, Alan B.] NIA, Behav Epidemiol Sect, Lab Epidemiol & Populat Sci, Intramural Res Program,NIH, Baltimore, MD 21224 USA. [Pankow, James S.] Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, Minneapolis, MN 55455 USA. [Wagenknecht, Lynne E.] Wake Forest Univ, Bowman Gray Sch Med, Div Publ Hlth Sci, Winston Salem, NC 27157 USA. [Arnett, Donna K.] Univ Kentucky, Coll Publ Hlth, Lexington, KY 40563 USA. [Nalls, Michael A.] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA. [Siscovick, David S.] New York Acad Med, New York, NY 10029 USA. [Psaty, Bruce M.] Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA. [Psaty, Bruce M.] Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA 98101 USA. [Wilson, James G.] Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA. [Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA. [Florez, Jose C.] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA. [Florez, Jose C.] Broad Inst, Program Metab, Cambridge, MA 02142 USA. [Florez, Jose C.] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA. [Florez, Jose C.] Harvard Med Sch, Dept Med, Boston, MA 02115 USA. [Morris, Andrew P.] Univ Liverpool, Dept Biostat, Inst Translat Med, Liverpool L69 3BX, Merseyside, England. [Stallings, Sarah C.] Vanderbilt Univ, Med Ctr, Vanderbilt Inst Clin & Translat Res, Nashville, TN 37203 USA. RP Liu, CT (reprint author), Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA.; Meigs, JB (reprint author), Harvard Med Sch, Massachusetts Gen Hosp, Div Gen Internal Med, Boston, MA 02114 USA. EM ctliu@bu.edu; jmeigs@partners.org RI Johnson, Andrew/G-6520-2013; Dauriz, Marco/S-5843-2016; OI Dauriz, Marco/0000-0002-5542-5941; Tajuddin, Salman M./0000-0002-7919-8528; Patel, Sanjay/0000-0002-9142-5172; Zonderman, Alan B/0000-0002-6523-4778; Vaidya, Dhananjay/0000-0002-7164-1601; Smith, Jennifer/0000-0002-3575-5468; Pankow, James/0000-0001-7076-483X FU Johnson Johnson FX B.M.P. serves on the DSMB of a clinical trial for the device manufacturer Zoll LifeCor and on the Steering Committee for the Yale Open Data Access Project funded by Johnson & Johnson. D.V. is a consultant for Consumable Science, Inc. J.R.K. holds stock in Pfizer, Inc., and Gilead Sciences, Inc. NR 61 TC 1 Z9 1 U1 1 U2 2 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD JUL 7 PY 2016 VL 99 IS 1 BP 56 EP 75 DI 10.1016/j.ajhg.2016.05.006 PG 20 WC Genetics & Heredity SC Genetics & Heredity GA DT6TI UT WOS:000381616600005 PM 27321945 ER PT J AU Yu, P Yang, WL Han, D Wang, X Guo, S Li, JC Li, F Zhang, XX Wong, SW Bai, BJ Liu, Y Du, J Sun, ZS Shi, ST Feng, HL Cai, T AF Yu, Ping Yang, Wenli Han, Dong Wang, Xi Guo, Sen Li, Jinchen Li, Fang Zhang, Xiaoxia Wong, Sing-Wai Bai, Baojing Liu, Yao Du, Jie Sun, Zhong Sheng Shi, Songtao Feng, Hailan Cai, Tao TI Mutations in WNT10B Are Identified in Individuals with Oligodontia SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID EPITHELIAL-MESENCHYMAL INTERACTIONS; AUTOSOMAL-DOMINANT OLIGODONTIA; IN-VITRO; TOOTH; EXPRESSION; GENE; DIFFERENTIATION; DISEASE; MORPHOGENESIS; POPULATION AB Tooth agenesis is one of the most common developmental anomalies in humans. Oligodontia, a severe form of tooth agenesis, is genetically and phenotypically a heterogeneous condition. Although significant efforts have been made, the genetic etiology of dental agenesis remains largely unknown. In the present study, we performed whole-exome sequencing to identify the causative mutations in Chinese families in whom oligodontia segregates with dominant inheritance. We detected a heterozygous missense mutation (c.632G > A [p.Arg211Gln]) in WNT10B in all affected family members. By Sanger sequencing a cohort of 145 unrelated individuals with non-syndromic oligodontia, we identified three additional mutations (c.569C > G [p.Pro190Arg], c.786G > A [p.Trp262*], and c.851T > G [p.Phe284Cys]). Interestingly, analysis of genotype-phenotype correlations revealed that mutations in WNT10B affect the development of permanent dentition, particularly the lateral incisors. Furthermore, a functional assay demonstrated that each of these mutants could not normally enhance the canonical Wnt signaling in HEPG2 epithelial cells, in which activity of the TOPFlash luciferase reporter was measured. Notably, these mutant WNT10B ligands could not efficiently induce endothelial differentiation of dental pulp stem cells. Our findings provide the identification of autosomal-dominant WNT10B mutations in individuals with oligodontia, which increases the spectrum of congenital tooth agenesis and suggests attenuated Wnt signaling in endothelial differentiation of dental pulp stem cells. C1 [Yu, Ping; Guo, Sen; Li, Jinchen; Cai, Tao] Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China. [Yang, Wenli; Wang, Xi] Zhengzhou Univ, Stomatol Hosp, Zhengzhou 450052, Peoples R China. [Han, Dong; Li, Fang; Zhang, Xiaoxia; Wong, Sing-Wai; Feng, Hailan] Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China. [Wong, Sing-Wai] Univ North Carolina Chapel Hill, Sch Dent, Oral Biol Curriculum, Chapel Hill, NC 27599 USA. [Bai, Baojing] Beijing Stomatol Hosp, Dept Prosthodont, Beijing 100050, Peoples R China. [Liu, Yao; Shi, Songtao] Univ Penn, Sch Dent Med, Dept Anat & Cell Biol, Philadelphia, PA 19104 USA. [Du, Jie] Capital Med Univ, Beijing Anzhen Hosp, Beijing 100000, Peoples R China. [Sun, Zhong Sheng] Chinese Acad Sci, Beijing Inst Life Sci, Beijing 100000, Peoples R China. [Cai, Tao] Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD 20982 USA. RP Cai, T (reprint author), Wenzhou Med Univ, Inst Genom Med, Wenzhou 325000, Peoples R China.; Feng, HL (reprint author), Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China.; Cai, T (reprint author), Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD 20982 USA. EM kqfenghl@bjmu.edu.cn; tcai@mail.nih.gov FU Wenzhou Medical University Research Fund; Beijing Collaborative Innovative Research Center for Cardiovascular Diseases [PXM2014_014226_000002]; National Natural Science Foundation of China [81110114] FX We are indebted to the individuals with tooth agenesis and their families for their participation in this study. We thank Dr. Curtis Harris's lab for the wild-type WNT10B plasmid, Dr. DeeDee Smart's lab for the pTOPFLASH and pCMV beta-gal plasmids, and Qianzhi Shao for bioinformatics analysis. We wish to thank Drs. Yan Jin and Weidong Li for thoughtful suggestions. Research reported in this publication was supported by the Wenzhou Medical University Research Fund (to P.Y.), the Beijing Collaborative Innovative Research Center for Cardiovascular Diseases (PXM2014_014226_000002 to D.J.), and National Natural Science Foundation of China grant 81110114 (to Z.S.S.). NR 38 TC 0 Z9 0 U1 3 U2 3 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD JUL 7 PY 2016 VL 99 IS 1 BP 195 EP 201 DI 10.1016/j.ajhg.2016.05.012 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA DT6TI UT WOS:000381616600016 PM 27321946 ER PT J AU McKiernan, EC Bourne, PE Brown, CT Buck, S Kenall, A Lin, J McDougall, D Nosek, BA Ram, K Soderberg, CK Spies, JR Thaney, K Updegrove, A Woo, KH Yarkoni, T AF McKiernan, Erin C. Bourne, Philip E. Brown, C. Titus Buck, Stuart Kenall, Amye Lin, Jennifer McDougall, Damon Nosek, Brian A. Ram, Karthik Soderberg, Courtney K. Spies, Jeffrey R. Thaney, Kaitlin Updegrove, Andrew Woo, Kara H. Yarkoni, Tal TI How open science helps researchers succeed SO ELIFE LA English DT Article ID RANDOMIZED CONTROLLED-TRIAL; OPEN-ACCESS ARTICLES; CITATION ADVANTAGE; SCHOLARLY COMMUNICATION; SUBSCRIPTION JOURNALS; RESEARCH IMPACT; PUBLICATIONS; DOWNLOADS; REVIEWERS; SYSTEM AB Open access, open data, open source and other open scholarship practices are growing in popularity and necessity. However, widespread adoption of these practices has not yet been achieved. One reason is that researchers are uncertain about how sharing their work will affect their careers. We review literature demonstrating that open research is associated with increases in citations, media attention, potential collaborators, job opportunities and funding opportunities. These findings are evidence that open research practices bring significant benefits to researchers relative to more traditional closed practices. C1 [McKiernan, Erin C.] Univ Nacl Autonoma Mexico, Fac Sci, Dept Phys, Mexico City, DF, Mexico. [Bourne, Philip E.] NIH, Bethesda, MD 20892 USA. [Brown, C. Titus] Univ Calif Davis, Populat Hlth & Reprod, Davis, CA 95616 USA. [Buck, Stuart] Laura & John Arnold Fdn, Houston, TX USA. [Kenall, Amye] BioMed Cent, London, England. [Lin, Jennifer] CrossRef, Oxford, England. [McDougall, Damon] Univ Texas Austin, Inst Computat Engn & Sci, Austin, TX 78712 USA. [Nosek, Brian A.; Soderberg, Courtney K.; Spies, Jeffrey R.] Ctr Open Sci, Charlottesville, VA USA. [Ram, Karthik] Univ Calif Berkeley, Berkeley Inst Data Sci, Berkeley, CA 94720 USA. [Spies, Jeffrey R.] Univ Virginia, Dept Engn & Soc, Charlottesville, VA USA. [Thaney, Kaitlin] Mozilla Fdn, Mozilla Sci Lab0, New York, NY USA. [Updegrove, Andrew] Gesmer Updegrove LLP, Boston, MA USA. [Woo, Kara H.] Washington State Univ, Ctr Environm Res Educ & Outreach, Pullman, WA USA. [Woo, Kara H.] Univ Washington, Informat Sch, Seattle, WA 98195 USA. [Yarkoni, Tal] Univ Texas Austin, Dept Psychol, Austin, TX 78712 USA. RP McKiernan, EC (reprint author), Univ Nacl Autonoma Mexico, Fac Sci, Dept Phys, Mexico City, DF, Mexico. EM emckiernan@ciencias.unam.mx OI McKiernan, Erin/0000-0002-9430-5221; Lin, Jennifer/0000-0002-9680-2328; Woo, Kara/0000-0002-5125-4188; Bourne, Philip/0000-0002-7618-7292; Kenall, Amye/0000-0002-3030-8001 NR 140 TC 7 Z9 7 U1 24 U2 25 PU ELIFE SCIENCES PUBLICATIONS LTD PI CAMBRIDGE PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND SN 2050-084X J9 ELIFE JI eLife PD JUL 7 PY 2016 VL 5 AR e16800 DI 10.7554/eLife.16800 PG 19 WC Biology SC Life Sciences & Biomedicine - Other Topics GA DV2HA UT WOS:000382740200001 ER PT J AU Chami, N Chen, MH Slater, AJ Eicher, JD Evangelou, E Tajuddin, SM Love-Gregory, L Kacprowski, T Schick, UM Nomura, A Giri, A Lessard, S Brody, JA Schurmann, C Pankratz, N Yanek, LR Manichaikul, A Pazoki, R Mihailov, E Hill, WD Raffield, LM Burt, A Bartz, TM Becker, DM Becker, LC Boerwinkle, E Bork-Jensen, J Bottinger, EP O'Donoghue, ML Crosslin, DR de Denus, S Dube, MP Elliott, P Engstrom, G Evans, MK Floyd, JS Fornage, M Gao, H Greinacher, A Gudnason, V Hansen, T Harris, TB Hayward, C Hernesniemi, J Highland, HM Hirschhorn, JN Hofman, A Irvin, MR Kahonen, M Lange, E Launer, LJ Lehtimaki, T Li, J Liewald, DCM Linneberg, A Liu, YM Lu, YC Lyytikainen, LP Magi, R Mathias, RA Melander, O Metspalu, A Mononen, N Nalls, MA Nickerson, DA Nikus, K O'Donnell, CJ Orho-Melander, M Pedersen, O Petersmann, A Polfus, L Psaty, BM Raitakari, OT Raitoharju, E Richard, M Rice, KM Rivadeneira, F Rotter, JI Schmidt, F Smith, AV Starr, JM Taylor, KD Teumer, A Thuesen, BH Torstenson, ES Tracy, RP Tzoulaki, I Zakai, NA Vacchi-Suzzi, C van Duijn, CM van Rooij, FJA Cushman, M Deary, IJ Edwards, DRV Vergnaud, AC Wallentin, L Waterworth, DM White, HD Wilson, JG Zonderman, AB Kathiresan, S Grarup, N Esko, T Loos, RJF Lange, LA Faraday, N Abumrad, NA Edwards, TL Ganesh, SK Auer, PL Johnson, AD Reiner, AP Lettre, G AF Chami, Nathalie Chen, Ming-Huei Slater, Andrew J. Eicher, John D. Evangelou, Evangelos Tajuddin, Salman M. Love-Gregory, Latisha Kacprowski, Tim Schick, Ursula M. Nomura, Akihiro Giri, Ayush Lessard, Samuel Brody, Jennifer A. Schurmann, Claudia Pankratz, Nathan Yanek, Lisa R. Manichaikul, Ani Pazoki, Raha Mihailov, Evelin Hill, W. David Raffield, Laura M. Burt, Amber Bartz, Traci M. Becker, Diane M. Becker, Lewis C. Boerwinkle, Eric Bork-Jensen, Jette Bottinger, Erwin P. O'Donoghue, Michelle L. Crosslin, David R. de Denus, Simon Dube, Marie-Pierre Elliott, Paul Engstrom, Gunnar Evans, Michele K. Floyd, James S. Fornage, Myriam Gao, He Greinacher, Andreas Gudnason, Vilmundur Hansen, Torben Harris, Tamara B. Hayward, Caroline Hernesniemi, Jussi Highland, Heather M. Hirschhorn, Joel N. Hofman, Albert Irvin, Marguerite R. Kahonen, Mika Lange, Ethan Launer, Lenore J. Lehtimaki, Terho Li, Jin Liewald, David C. M. Linneberg, Allan Liu, Yongmei Lu, Yingchang Lyytikainen, Leo-Pekka Magi, Reedik Mathias, Rasika A. Melander, Olle Metspalu, Andres Mononen, Nina Nalls, Mike A. Nickerson, Deborah A. Nikus, Kjell O'Donnell, Chris J. Orho-Melander, Marju Pedersen, Oluf Petersmann, Astrid Polfus, Linda Psaty, Bruce M. Raitakari, Olli T. Raitoharju, Emma Richard, Melissa Rice, Kenneth M. Rivadeneira, Fernando Rotter, Jerome I. Schmidt, Frank Smith, Albert Vernon Starr, John M. Taylor, Kent D. Teumer, Alexander Thuesen, Betina H. Torstenson, Eric S. Tracy, Russell P. Tzoulaki, Ioanna Zakai, Neil A. Vacchi-Suzzi, Caterina van Duijn, Cornelia M. van Rooij, Frank J. A. Cushman, Mary Deary, Ian J. Edwards, Digna R. Velez Vergnaud, Anne-Claire Wallentin, Lars Waterworth, Dawn M. White, Harvey D. Wilson, James G. Zonderman, Alan B. Kathiresan, Sekar Grarup, Niels Esko, Tonu Loos, Ruth J. F. Lange, Leslie A. Faraday, Nauder Abumrad, Nada A. Edwards, Todd L. Ganesh, Santhi K. Auer, Paul L. Johnson, Andrew D. Reiner, Alexander P. Lettre, Guillaume TI Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID GENOME-WIDE ASSOCIATION; CORONARY-HEART-DISEASE; AFRICAN-AMERICANS; DILATED CARDIOMYOPATHY; NATURAL-SELECTION; SEQUENCE VARIANTS; PYRUVATE-KINASE; LOW-FREQUENCY; LOCI; GENE AB Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 x 10(-10) for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p < 3 x 10(-8) for hematocrit [HCT] and HGB). In African Americans, we identified a nonsense variant in CD36 associated with higher RBC distribution width (rs3211938, MAF = 8.7%, p = 7 x 10(-11)) and showed that it is associated with lower CD36 expression and strong allelic imbalance in ex vivo differentiated human erythroblasts. We also identified a rare missense variant in ALAS2 (rs201062903, MAF = 0.2%) associated with lower mean corpuscular volume and mean corpuscular hemoglobin (p < 8 x 10(-9)). Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria. Gene-based testing highlighted three rare missense variants in PKLR, a gene mutated in Mendelian non-spherocytic hemolytic anemia, associated with HGB and HCT (SKAT p < 8 x 10(-7)). These rare, low-frequency, and common RBC variants showed pleiotropy, being also associated with platelet, white blood cell, and lipid traits. Our association results and functional annotation suggest the involvement of new genes in human erythropoiesis. We also confirm that rare and low-frequency variants play a role in the architecture of complex human traits, although their phenotypic effect is generally smaller than originally anticipated. C1 [Chami, Nathalie; Lessard, Samuel; Dube, Marie-Pierre; Lettre, Guillaume] Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada. [Chami, Nathalie; Lessard, Samuel; de Denus, Simon; Dube, Marie-Pierre; Lettre, Guillaume] Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada. [Chen, Ming-Huei; Eicher, John D.; O'Donnell, Chris J.; Johnson, Andrew D.] NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA. [Slater, Andrew J.] GlaxoSmithKline, Genet Target Sci, Res Triangle Pk, Res Triangle Pk, NC 27709 USA. [Slater, Andrew J.] OmicSoft Corp, Cary, NC 27513 USA. [Evangelou, Evangelos; Elliott, Paul; Gao, He; Tzoulaki, Ioanna; Vergnaud, Anne-Claire] Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London W2 1PG, England. [Evangelou, Evangelos; Tzoulaki, Ioanna] Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, Ioannina 45110, Greece. [Tajuddin, Salman M.; Evans, Michele K.; Zonderman, Alan B.] NIA, Lab Epidemiol & Populat Sci, Baltimore, MD 21224 USA. [Love-Gregory, Latisha; Abumrad, Nada A.] Washington Univ, Sch Med, Dept Med, Ctr Human Nutr, St Louis, MO 63110 USA. [Kacprowski, Tim; Schmidt, Frank] Ernst Moritz Arndt Univ Greifswald, Dept Funct Gen, Interfaculty Inst Genet & Funct Gen, Univ Med, D-17475 Greifswald, Germany. [Kacprowski, Tim] DZHK German Ctr Cardiovasc Res, Partner Site Greifswald, Greifswald, Germany. [Schick, Ursula M.; Schurmann, Claudia; Bottinger, Erwin P.; Lu, Yingchang; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10069 USA. [Nomura, Akihiro; Kathiresan, Sekar] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA. [Nomura, Akihiro; Hirschhorn, Joel N.; Kathiresan, Sekar; Esko, Tonu] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA. [Nomura, Akihiro; Kathiresan, Sekar] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA. [Nomura, Akihiro; Kathiresan, Sekar] Harvard Med Sch, Dept Med, Boston, MA 02115 USA. [Nomura, Akihiro] Kanazawa Univ, Grad Sch Med Sci, Div Cardiovasc Med, Kanazawa, Ishikawa 9200942, Japan. [Giri, Ayush; Torstenson, Eric S.; Edwards, Todd L.] Vanderbilt Univ, Inst Med & Publ Hlth, Vanderbilt Genet Inst, Div Epidemiol, Nashville, TN 37235 USA. [Brody, Jennifer A.; Floyd, James S.] Univ Washington, Dept Med, Seattle, WA 98101 USA. [Schurmann, Claudia; Lu, Yingchang; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10069 USA. [Pankratz, Nathan] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55454 USA. [Yanek, Lisa R.; Becker, Diane M.] Johns Hopkins Univ, Sch Med, Dept Med Div Gen Internal Med icine, Div Gen Internal Med, Baltimore, MD 21205 USA. [Manichaikul, Ani] Univ Virginia, Ctr Publ Hlth Gen, Charlottesville, VA 22908 USA. [Pazoki, Raha; Hofman, Albert; Rivadeneira, Fernando; van Duijn, Cornelia M.; van Rooij, Frank J. A.] Erasmus, Dept Epidemiol, NL-3000 Mcrotterdam, Netherlands. [Mihailov, Evelin; Magi, Reedik; Metspalu, Andres; Esko, Tonu] Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia. [Hill, W. David; Liewald, David C. M.; Starr, John M.; Deary, Ian J.] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland. [Hill, W. David; Liewald, David C. M.; Deary, Ian J.] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland. [Raffield, Laura M.; Lange, Leslie A.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA. [Burt, Amber] Univ Washington, Div Med Genet, Dept Med, Seattle, WA 98195 USA. [Bartz, Traci M.; Rice, Kenneth M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Becker, Lewis C.] Johns Hopkins Univ Sch Med, Dept Med, Div Cardiol & Gen Internal Med, Baltimore, MD 21205 USA. [Boerwinkle, Eric; Highland, Heather M.; Polfus, Linda] Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA. [Boerwinkle, Eric] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA. [Bork-Jensen, Jette; Hansen, Torben; Pedersen, Oluf; Grarup, Niels] Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn, Ctr Basic Metabol Res, DK-2100 Copenhagen, Denmark. [O'Donoghue, Michelle L.] Brigham & Womens Hosp, Cardiovasc Div, TIMI Study Grp, Boston, MA 02115 USA. [Crosslin, David R.] Univ Washington, Dept Biomed Informat & Med Educ, Seattle, WA 98195 USA. [de Denus, Simon] Univ Montreal, Fac Pharm, Montreal, PQ H3T 1J4, Canada. [Engstrom, Gunnar; Melander, Olle; Orho-Melander, Marju] Lund Univ, Dept Clin Sci, S-22100 Malmo, Sweden. [Engstrom, Gunnar; Melander, Olle; Orho-Melander, Marju] Skane Univ Hosp, S-22241 Malmo, Sweden. [Fornage, Myriam; Richard, Melissa] Univ Texas Hlth Sci Ctr, Inst Mol Med, Houston, TX 77030 USA. [Greinacher, Andreas] Univ Med Greifswald, Inst Immunol & Transfus Med, D-17475 Greifswald, Germany. [Gudnason, Vilmundur; Smith, Albert Vernon] Iceland Heart Assoc, IS-201 Kopavogur, Iceland. [Gudnason, Vilmundur; Smith, Albert Vernon] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland. [Harris, Tamara B.; Launer, Lenore J.] NIA, Intramural Res Program, NIH, Lab Epidemiol Demog & Biometry, Bethesda, MD 20892 USA. [Hayward, Caroline] Univ Edinburgh, MRC Human Genet Unit, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland. [Hernesniemi, Jussi; Lehtimaki, Terho; Lyytikainen, Leo-Pekka; Mononen, Nina; Raitoharju, Emma] Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland. [Hernesniemi, Jussi; Lehtimaki, Terho; Lyytikainen, Leo-Pekka; Mononen, Nina; Raitoharju, Emma] Univ Tampere, Dept Clin Chem, Sch Med, Tampere 33014, Finland. [Hernesniemi, Jussi; Nikus, Kjell] Univ Tampere, Sch Med, Tampere 33014, Finland. [Highland, Heather M.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC 27514 USA. [Hirschhorn, Joel N.] Boston Childrens Hosp, Dept Endocrinol, Boston, MA 02115 USA. [Hofman, Albert] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. [Irvin, Marguerite R.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35233 USA. [Kahonen, Mika] Tampere Univ Hosp, Dept Clin Physiol, Tampere 33521, Finland. [Kahonen, Mika] Univ Tampere, Dept Clin Physiol, Sch Med, Tampere 33014, Finland. [Lange, Ethan] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA. [Lange, Ethan] Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA. [Li, Jin] Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Palo Alto, CA 94305 USA. [Linneberg, Allan; Thuesen, Betina H.] Capital Region Denmark, Res Ctr Prevent & Hlth, DK-2600 Copenhagen, Denmark. [Linneberg, Allan] Rigshosp, Dept Clin Expt Res, DK-2100 Glostrup, Denmark. [Linneberg, Allan] Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, DK-2200 Copenhagen, Denmark. [Liu, Yongmei] Wake Forest Sch Med, Div Publ Hlth Sci, Ctr Human Genet, Winston Salem, NC 27157 USA. [Mathias, Rasika A.] Johns Hopkins Univ Sch Med, Dept Med, Div Allergy & Clin Immunol, Baltimore, MD 21205 USA. [Mathias, Rasika A.] Johns Hopkins Univ Sch Med, Div Gen Internal Med, Baltimore, MD 21205 USA. [Nalls, Mike A.] NIA, NIH, Neurogenet Lab, Bethesda, MD 20892 USA. [Nickerson, Deborah A.] Univ Washington, Dept Genome Sci, Seattle, WA 98105 USA. [Nikus, Kjell] Tampere Univ Hosp, Dept Cardiol, Ctr Heart, Tampere 33521, Finland. [O'Donnell, Chris J.] Boston Vet Adm VA Healthcare, Cardiol Sect, Boston, MA 02118 USA. [O'Donnell, Chris J.] Boston Vet Adm VA Healthcare, Ctr Populat Gen, Boston, MA 02118 USA. [Petersmann, Astrid] Univ Med Greifswald, Inst Clin Chem & Lab Med, D-17475 Greifswald, Germany. [Psaty, Bruce M.] Univ Washington, Dept Med Epidemiol & Hlth Serv, Cardiovasc Hlth Res Unit, Seattle, WA 98101 USA. [Psaty, Bruce M.] Grp Hlth Res Inst, Grp Hlth Cooperat, Seattle, WA 98101 USA. [Raitakari, Olli T.] Turku Univ Hosp, Dept Clin Physiol & Nucl Med, Turku 20521, Finland. [Raitakari, Olli T.] Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, Turku 20520, Finland. [Rivadeneira, Fernando] Erasmus MC, Dept Internal Med, NL-3000 Rotterdam, Netherlands. [Rivadeneira, Fernando] NCHA, NL-3015 Rotterdam, Netherlands. [Rotter, Jerome I.; Taylor, Kent D.] Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA. [Rotter, Jerome I.; Taylor, Kent D.] Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90502 USA. [Starr, John M.] Alzheimer Scotland Res Ctr, Edinburgh EH8 9JZ, Midlothian, Scotland. [Teumer, Alexander] Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany. [Tracy, Russell P.] Univ Vermont Coll Med, Dept Pathol, Colchester, VT 05446 USA. [Tracy, Russell P.] Univ Vermont Coll Med, Dept Lab Med, Colchester, VT 05446 USA. [Tracy, Russell P.] Univ Vermont Coll Med, Dept Biochem, Colchester, VT 05446 USA. [Zakai, Neil A.; Cushman, Mary] Univ Vermont Coll Med, Dept Med, Burlington, VT 05405 USA. [Zakai, Neil A.; Cushman, Mary] Univ Vermont Coll Med, Dept Pathol, Burlington, VT 05405 USA. [Vacchi-Suzzi, Caterina] SUNY Stony Brook, Dept Family Populat & Prevent Med, Stony Brook, NY 11794 USA. [Edwards, Digna R. Velez] Vanderbilt Univ, Vanderbilt Epidemiol Ctr, Dept Obstet & Gynecol, Inst Med & Publ Hlth,Vanderbilt Genet Inst, Nashville, TN 37203 USA. [Wallentin, Lars] Uppsala Univ, Dept Med Sci, Cardiol & Uppsala Clin Res Ctr, S-75185 Uppsala, Sweden. [Waterworth, Dawn M.] Genet Target Sci, GlaxoSmithKline, King Of Prussia, PA 19406 USA. [White, Harvey D.] Auckland City Hosp, Green Lane Cardiovasc Serv, Auckland 1142, New Zealand. [White, Harvey D.] Univ Auckland, Auckland 1142, New Zealand. [Wilson, James G.] Univ Mississippi Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA. [Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10069 USA. [Faraday, Nauder] Johns Hopkins Univ, Sch Med, Dept Anesthesiol & Crit Care Med, Baltimore, MD 21205 USA. [Ganesh, Santhi K.] Univ Michigan, Dept Internal Med, Ann Arbor, MI 48108 USA. [Ganesh, Santhi K.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48108 USA. [Auer, Paul L.] Univ Wisconsin, Zilber Sch Publ Hlth, Milwaukee, WI 53205 USA. [Reiner, Alexander P.] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA. [Reiner, Alexander P.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. RP Lettre, G (reprint author), Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada.; Lettre, G (reprint author), Montreal Heart Inst, Montreal, PQ H1T 1CB, Canada.; Reiner, AP (reprint author), Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.; Reiner, AP (reprint author), Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. EM apreiner@u.washington.edu; guillaume.lettre@umontreal.ca RI Schurmann, Claudia/L-1204-2016; Floyd, James/G-7563-2015; Johnson, Andrew/G-6520-2013; Kacprowski, Tim/K-8650-2013; Dube, Marie-Pierre/B-9364-2008; Grarup, Niels/K-2807-2015; OI Schurmann, Claudia/0000-0003-4158-9192; Evangelou, Evangelos/0000-0002-5488-2999; Linneberg, Allan/0000-0002-0994-0184; Kacprowski, Tim/0000-0002-5393-2413; Dube, Marie-Pierre/0000-0001-8442-4393; Grarup, Niels/0000-0001-5526-1070; Manichaikul, Ani/0000-0002-5998-795X; Tajuddin, Salman M./0000-0002-7919-8528; Zonderman, Alan B/0000-0002-6523-4778 FU Fonds de Recherche du Queebec-Santee (FRQS); Canadian Institute of Health Research (Banting-CIHR); Canadian Institute of Health Research (operating grant MOP) [123382]; Canada Research Chair program; NHLBI [R21 HL121422-02]; NIH [DK060022]; Yoshida Scholarship Foundation; Research Scholar award from the Massachusetts General Hospital (MGH); Howard Goodman Fellowship from MGH; Donovan Family Foundation [R01HL107816]; Fondation Leducq FX We thank all participants, staff, and study coordinating centers. We also thank Raymond Doty and Jan Abkowitz for discussion of the ALAS2 finding. We would like to thank Liling Warren for contributions to the genetic analysis of the SOLID-TIMI-52 and STABILITY datasets. Young Finns Study (YFS) acknowledges the expert technical assistance in the statistical analyses by Ville Aalto and Irina Lisinen. Estonian Genome Center, University of Tartu (EGCUT) thanks co-workers at the Estonian Biobank, especially Mr. V. Soo, Mr. S. Smith, and Dr. L. Milani. Airwave thanks Louisa Cavaliero who assisted in data collection and management as well as Peter McFarlane and the Glasgow CARE, Patricia Munroe at Queen Mary University of London, and Joanna Sarnecka and Ania Zawodniak at Northwick Park for their contributions to the study. This work was supported by the Fonds de Recherche du Queebec-Santee (FRQS, scholarship to N.C.), the Canadian Institute of Health Research (Banting-CIHR, scholarship to S.L. and operating grant MOP#123382 to G.L.), and the Canada Research Chair program (to G.L.). P.L.A. was supported by NHLBI R21 HL121422-02. N.A.A. is funded by NIH DK060022. A.N. was supported by the Yoshida Scholarship Foundation. S.K. was supported by a Research Scholar award from the Massachusetts General Hospital (MGH), the Howard Goodman Fellowship from MGH, the Donovan Family Foundation, R01HL107816, and a grant from Fondation Leducq. Additional acknowledgments and funding information is provided in the Supplemental Data. NR 65 TC 3 Z9 3 U1 5 U2 6 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD JUL 7 PY 2016 VL 99 IS 1 BP 8 EP 21 DI 10.1016/j.ajhg.2016.05.007 PG 14 WC Genetics & Heredity SC Genetics & Heredity GA DT6TI UT WOS:000381616600002 PM 27346685 ER PT J AU Tajuddin, SM Schick, UM Eicher, JD Chami, N Giri, A Brody, JA Hill, WD Kacprowski, T Li, J Lyytikainen, LP Manichaikul, A Mihailov, E O'Donoghue, ML Pankratz, N Pazoki, R Polfus, LM Smith, AV Schurmann, C Vacchi-Suzzi, C Waterworth, DM Evangelou, E Yanek, LR Burt, A Chen, MH van Rooij, FJA Floyd, JS Greinacher, A Harris, TB Highland, HM Lange, LA Liu, Y Magi, R Nalls, MA Mathias, RA Nickerson, DA Nikus, K Starr, JM Tardif, JC Tzoulaki, I Edwards, DRV Wallentin, L Bartz, TM Becker, LC Denny, JC Raffield, LM Rioux, JD Friedrich, N Fornage, M Gao, H Hirschhorn, JN Liewald, DCM Rich, SS Uitterlinden, A Bastarache, L Becker, DM Boerwinkle, E de Denus, S Bottinger, EP Hayward, C Hofman, A Homuth, G Lange, E Launer, LJ Lehtimaki, T Lu, YC Metspalu, A O'Donnell, CJ Quarells, RC Richard, M Torstenson, ES Taylor, KD Vergnaud, AC Zonderman, AB Crosslin, DR Deary, IJ Dorr, M Elliott, P Evans, MK Gudnason, V Kahonen, M Psaty, BM Rotter, JI Slater, AJ Dehghan, A White, HD Ganesh, SK Loos, RJF Esko, T Faraday, N Wilson, JG Cushman, M Johnson, AD Edwards, TL Zakai, NA Lettre, G Reiner, AP Auer, PL AF Tajuddin, Salman M. Schick, Ursula M. Eicher, John D. Chami, Nathalie Giri, Ayush Brody, Jennifer A. Hill, W. David Kacprowski, Tim Li, Jin Lyytikainen, Leo-Pekka Manichaikul, Ani Mihailov, Evelin O'Donoghue, Michelle L. Pankratz, Nathan Pazoki, Raha Polfus, Linda M. Smith, Albert Vernon Schurmann, Claudia Vacchi-Suzzi, Caterina Waterworth, Dawn M. Evangelou, Evangelos Yanek, Lisa R. Burt, Amber Chen, Ming-Huei van Rooij, Frank J. A. Floyd, James S. Greinacher, Andreas Harris, Tamara B. Highland, Heather M. Lange, Leslie A. Liu, Yongmei Magi, Reedik Nalls, Mike A. Mathias, Rasika A. Nickerson, Deborah A. Nikus, Kjell Starr, John M. Tardif, Jean-Claude Tzoulaki, Ioanna Edwards, Digna R. Velez Wallentin, Lars Bartz, Traci M. Becker, Lewis C. Denny, Joshua C. Raffield, Laura M. Rioux, John D. Friedrich, Nele Fornage, Myriam Gao, He Hirschhorn, Joel N. Liewald, David C. M. Rich, Stephen S. Uitterlinden, Andre Bastarache, Lisa Becker, Diane M. Boerwinkle, Eric de Denus, Simon Bottinger, Erwin P. Hayward, Caroline Hofman, Albert Homuth, Georg Lange, Ethan Launer, Lenore J. Lehtimaki, Terho Lu, Yingchang Metspalu, Andres O'Donnell, Chris J. Quarells, Rakale C. Richard, Melissa Torstenson, Eric S. Taylor, Kent D. Vergnaud, Anne-Claire Zonderman, Alan B. Crosslin, David R. Deary, Ian J. Dorr, Marcus Elliott, Paul Evans, Michele K. Gudnason, Vilmundur Kahonen, Mika Psaty, Bruce M. Rotter, Jerome I. Slater, Andrew J. Dehghan, Abbas White, Harvey D. Ganesh, Santhi K. Loos, Ruth J. F. Esko, Tonu Faraday, Nauder Wilson, James G. Cushman, Mary Johnson, Andrew D. Edwards, Todd L. Zakai, Neil A. Lettre, Guillaume Reiner, Alex P. Auer, Paul L. TI Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID ACUTE MYELOID-LEUKEMIA; UROKINASE RECEPTOR; GENETIC-VARIANTS; LYMPHOBLASTIC-LEUKEMIA; TRANSCRIPTION FACTORS; SUSCEPTIBILITY LOCI; LYMPHOID ORGANS; EMERGE NETWORK; RISK LOCI; EXPRESSION AB White blood cells play diverse roles in innate and adaptive immunity. Genetic association analyses of phenotypic variation in circulating white blood cell (WBC) counts from large samples of otherwise healthy individuals can provide insights into genes and biologic pathways involved in production, differentiation, or clearance of particular WBC lineages (myeloid, lymphoid) and also potentially inform the genetic basis of autoimmune, allergic, and blood diseases. We performed an exome array-based meta-analysis of total WBC and subtype counts (neutrophils, monocytes, lymphocytes, basophils, and eosinophils) in a multi-ancestry discovery and replication sample of similar to 157,622 individuals from 25 studies. We identified 16 common variants (8 of which were coding variants) associated with one or more WBC traits, the majority of which are pleiotropically associated with autoimmune diseases. Based on functional annotation, these loci included genes encoding surface markers of myeloid, lymphoid, or hematopoietic stem cell differentiation (CD69, CD33, CD87), transcription factors regulating lineage specification during hematopoiesis (ASXL1, IRF8, IKZF1, JMJD1C, ETS2-PSMG1), and molecules involved in neutrophil clearance/apoptosis (C10orf54, LTA), adhesion (TNXB), or centrosome and microtubule structure/function (KIF9, TUBD1). Together with recent reports of somatic ASXL1 mutations among individuals with idiopathic cytopenias or clonal hematopoiesis of undetermined significance, the identification of a common regulatory 3 ' UTR variant of ASXL1 suggests that both germline and somatic ASXL1 mutations contribute to lower blood counts in otherwise asymptomatic individuals. These association results shed light on genetic mechanisms that regulate circulating WBC counts and suggest a prominent shared genetic architecture with inflammatory and autoimmune diseases. C1 [Tajuddin, Salman M.; Zonderman, Alan B.; Evans, Michele K.] NIA, Lab Epidemiol & Populat Sci, NIH, Baltimore, MD 21224 USA. [Schick, Ursula M.; Schurmann, Claudia; Bottinger, Erwin P.; Lu, Yingchang; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA. [Schick, Ursula M.; Schurmann, Claudia; Lu, Yingchang; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA. [Eicher, John D.; Chen, Ming-Huei; Johnson, Andrew D.] NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA. [Chami, Nathalie; Tardif, Jean-Claude; Rioux, John D.; Lettre, Guillaume] Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada. [Chami, Nathalie; Tardif, Jean-Claude; Rioux, John D.; de Denus, Simon; Lettre, Guillaume] Montreal Heart Inst, Montreal, PQ H1T 1C8, Canada. [Giri, Ayush; Torstenson, Eric S.] Vanderbilt Univ, Div Epidemiol, Inst Med & Publ Hlth, Nashville, TN 37235 USA. [Brody, Jennifer A.; Floyd, James S.] Univ Washington, Dept Med, Seattle, WA 98101 USA. [Hill, W. David; Starr, John M.; Liewald, David C. M.; Deary, Ian J.] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland. [Hill, W. David; Liewald, David C. M.; Deary, Ian J.] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland. [Kacprowski, Tim; Homuth, Georg] Univ Med Greifswald, Interfac Inst Genet & Funct Genom, Dept Funct Genom, D-17475 Greifswald, Germany. [Kacprowski, Tim; Homuth, Georg] Ernst Moritz Arndt Univ Greifswald, D-17475 Greifswald, Germany. [Kacprowski, Tim; Friedrich, Nele; Dorr, Marcus] DZHK German Ctr Cardiovasc Res, Greifswald, Germany. [Li, Jin] Stanford Univ, Sch Med, Dept Med, Div Cardiovasc Med, Palo Alto, CA 94305 USA. [Lyytikainen, Leo-Pekka; Lehtimaki, Terho] Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland. [Lyytikainen, Leo-Pekka; Lehtimaki, Terho] Univ Tampere, Sch Med, Dept Clin Chem, Tampere 33014, Finland. [Manichaikul, Ani; Rich, Stephen S.] Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA 22908 USA. [Mihailov, Evelin; Magi, Reedik; Metspalu, Andres; Esko, Tonu] Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia. [O'Donoghue, Michelle L.] Brigham & Womens Hosp, Div Cardiovasc, TIMI Study Grp, Boston, MA 02115 USA. [Pankratz, Nathan] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55454 USA. [Pazoki, Raha; van Rooij, Frank J. A.; Uitterlinden, Andre; Hofman, Albert; Dehghan, Abbas] Erasmus Univ, Med Ctr, Dept Epidemiol, NL-3000 DR Rotterdam, Netherlands. [Polfus, Linda M.; Highland, Heather M.; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA. [Smith, Albert Vernon; Gudnason, Vilmundur] Iceland Heart Assoc, IS-201 Kopavogur, Iceland. [Smith, Albert Vernon; Gudnason, Vilmundur] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland. [Vacchi-Suzzi, Caterina] SUNY Stony Brook, Dept Family Populat & Prevent Med, Stony Brook, NY 11794 USA. [Waterworth, Dawn M.] GlaxoSmithKline, Target Sci, Genet, King Of Prussia, PA 19406 USA. [Evangelou, Evangelos; Tzoulaki, Ioanna; Gao, He; Vergnaud, Anne-Claire; Elliott, Paul] Imperial Coll London, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, Dept Epidemiol & Biostat, London W2 1PG, England. [Evangelou, Evangelos; Tzoulaki, Ioanna] Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, GR-45110 Ioannina, Greece. [Yanek, Lisa R.; Becker, Diane M.] Johns Hopkins Univ, Sch Med, Dept Med, Div Gen Internal Med, Baltimore, MD 21205 USA. [Burt, Amber] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA. [Greinacher, Andreas] Univ Med Greifswald, Inst Immunol & Transfus Med, D-17475 Greifswald, Germany. [Harris, Tamara B.; Launer, Lenore J.] NIA, Lab Epidemiol Demog & Biometry, Intramural Res Program, NIH, Bethesda, MD 20892 USA. [Highland, Heather M.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC 27514 USA. [Lange, Leslie A.; Raffield, Laura M.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA. [Liu, Yongmei] Wake Forest Sch Med, Div Publ Hlth Sci, Ctr Human Genet, Winston Salem, NC 27157 USA. [Nalls, Mike A.] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA. [Mathias, Rasika A.] Johns Hopkins Univ, Sch Med, Dept Med, Div Allergy & Clin Immunol, Baltimore, MD 21205 USA. [Mathias, Rasika A.; Becker, Lewis C.] Johns Hopkins Univ, Sch Med, Dept Med, Div Gen Internal Med, Baltimore, MD 21205 USA. [Nickerson, Deborah A.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98105 USA. [Nikus, Kjell] Tampere Univ Hosp, Dept Cardiol, Ctr Heart, Tampere 33521, Finland. [Nikus, Kjell] Univ Tampere, Sch Med, Tampere 33014, Finland. [Starr, John M.] Alzheimer Scotland Dementia Res Ctr, Edinburgh EH8 9JZ, Midlothian, Scotland. [Edwards, Digna R. Velez] Vanderbilt Univ, Vanderbilt Genet Inst, Inst Med & Publ Hlth, Vanderbilt Epidemiol Ctr,Dept Obstet & Gynecol, Nashville, TN 37203 USA. [Wallentin, Lars] Uppsala Univ, Cardiol, Dept Med Sci, S-75185 Uppsala, Sweden. [Wallentin, Lars] Uppsala Univ, Uppsala Clin Res Ctr, S-75185 Uppsala, Sweden. [Bartz, Traci M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Becker, Lewis C.] Johns Hopkins Univ, Sch Med, Dept Med, Div Cardiol, Baltimore, MD 21205 USA. [Denny, Joshua C.; Bastarache, Lisa] Vanderbilt Univ, Sch Med, Dept Biomed Informat, Nashville, TN 37203 USA. [Friedrich, Nele] Univ Med Greifswald, Inst Clin Chem & Lab Med, D-13347 Greifswald, Germany. [Fornage, Myriam; Richard, Melissa] Univ Texas Hlth Sci Ctr Houston, Inst Mol Med, Houston, TX 77030 USA. [Hirschhorn, Joel N.; Esko, Tonu] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA. [Hirschhorn, Joel N.] Boston Childrens Hosp, Dept Endocrinol, Boston, MA 02115 USA. [Uitterlinden, Andre] Erasmus Univ, Med Ctr, Dept Internal Med, NL-3000 DR Rotterdam, Netherlands. [Uitterlinden, Andre] NCHA, NL-3015 GD Rotterdam, Netherlands. [Boerwinkle, Eric] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA. [de Denus, Simon] Univ Montreal, Fac Pharm, Montreal, PQ H3T 1J4, Canada. [Hayward, Caroline] Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland. [Hofman, Albert] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. [Lange, Ethan] Univ N Carolina, Dept Genet & Biostat, Chapel Hill, NC 27599 USA. [O'Donnell, Chris J.] NHLBI, Framingham Heart Study, Framingham, MA 01702 USA. [O'Donnell, Chris J.] Boston Vet Adm Healthcare, Cardiol Sect, Boston, MA 02118 USA. [O'Donnell, Chris J.] Boston Vet Adm Healthcare, Ctr Populat Genom, Boston, MA 02118 USA. [Quarells, Rakale C.] Morehouse Sch Med, Social Epidemiol Res Ctr, Cardiovasc Res Inst, Atlanta, GA 30310 USA. [Taylor, Kent D.; Rotter, Jerome I.] Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA. [Taylor, Kent D.; Rotter, Jerome I.] Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90502 USA. [Crosslin, David R.] Univ Washington, Dept Biomed Informat & Med Educ, Seattle, WA 98195 USA. [Dorr, Marcus] Univ Med Greifswald, Dept Cardiol, D-17475 Greifswald, Germany. [Kahonen, Mika] Tampere Univ Hosp, Dept Clin Physiol, Tampere 33521, Finland. [Kahonen, Mika] Univ Tampere, Sch Med, Dept Clin Physiol, Tampere 33014, Finland. [Psaty, Bruce M.] Univ Washington, Cardiovasc Hlth Res Unit, Dept Epidemiol, Seattle, WA 98101 USA. [Psaty, Bruce M.] Univ Washington, Cardiovasc Hlth Res Unit, Dept Hlth Serv, Seattle, WA 98101 USA. [Psaty, Bruce M.] Univ Washington, Cardiovasc Hlth Res Unit, Dept Med, Seattle, WA 98101 USA. [Psaty, Bruce M.] Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA 98101 USA. [Slater, Andrew J.] OmicSoft Corp, Cary, NC 27513 USA. [Slater, Andrew J.] GlaxoSmithKline, Genet Target Sci, Res Triangle Pk, NC 27709 USA. [White, Harvey D.] Auckland City Hosp, Green Lane Cardiovasc Serv, Auckland 1142, New Zealand. [White, Harvey D.] Univ Auckland, Auckland 1142, New Zealand. [Ganesh, Santhi K.] Univ Michigan, Dept Internal Med, Ann Arbor, MI 48108 USA. [Ganesh, Santhi K.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48108 USA. [Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA. [Faraday, Nauder] Johns Hopkins Univ, Sch Med, Dept Anesthesiol & Crit Care Med, Baltimore, MD 21205 USA. [Wilson, James G.] Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA. [Cushman, Mary; Zakai, Neil A.] Univ Vermont, Dept Med, Div Hematol Oncol, Colchester, VT 05446 USA. [Edwards, Todd L.] Vanderbilt Univ, Vanderbilt Genet Inst, Inst Med & Publ Hlth, Div Epidemiol,Dept Med, Nashville, TN 37203 USA. [Reiner, Alex P.] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA. [Reiner, Alex P.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. [Auer, Paul L.] Univ Wisconsin Milwaukee, Zilber Sch Publ Hlth, Milwaukee, WI 53205 USA. RP Reiner, AP (reprint author), Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.; Reiner, AP (reprint author), Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA.; Auer, PL (reprint author), Univ Wisconsin Milwaukee, Zilber Sch Publ Hlth, Milwaukee, WI 53205 USA. EM apreiner@u.washington.edu; pauer@uwm.edu RI Schurmann, Claudia/L-1204-2016; Floyd, James/G-7563-2015; Rioux, John/A-9599-2015; Johnson, Andrew/G-6520-2013; Kacprowski, Tim/K-8650-2013; OI Schurmann, Claudia/0000-0003-4158-9192; Rioux, John/0000-0001-7560-8326; Kacprowski, Tim/0000-0002-5393-2413; Manichaikul, Ani/0000-0002-5998-795X; Tajuddin, Salman M./0000-0002-7919-8528; Zonderman, Alan B/0000-0002-6523-4778; Evangelou, Evangelos/0000-0002-5488-2999; Dehghan, Abbas/0000-0001-6403-016X FU NHLBI [R21 HL121422-02, R01 HL086694]; Canada Research Chair program; Canadian Institute of Health Research MOP [123382]; National Institute on Aging, NIH Intramural Research Program; a component of the NIH Roadmap for Medical Research [UL1RR025005] FX We thank all participants and study coordinating centers of the participating studies and cohorts. P.L.A. was supported by NHLBI R21 HL121422-02. G.L. was supported by the Canada Research Chair program and the Canadian Institute of Health Research MOP#123382. This work was supported in part by the National Institute on Aging, NIH Intramural Research Program. Data analyses utilized the computational resources of the NIH HPC Biowulf cluster at the NIH. The Framingham Heart Study (FHS) acknowledges the Shared Computing Cluster at Boston University. Infrastructure and data analysis for the ARIC study was partly supported by Grant Number UL1RR025005, a component of the NIH Roadmap for Medical Research, and grant R01 HL086694 from the NHLBI. Airwave study thanks Louisa Cavaliero who assisted in data collection and management, Peter McFarlane and the Glasgow CARE, Patricia Munroe at Queen Mary University of London, and Joanna Sarnecka and Ania Zawodniak at Northwick Park for their contributions to the study. SOLID-TIMI-52 and STABILITY thank Liling Warren for contributions to the genetic analysis of the study datasets. Estonian Genome Center, University of Tartu (EGCUT) thanks Mr. V. Soo, Mr. S. Smith, and Dr. L. Milani for their contribution. The Rotterdam Study (RS) thanks Ms. Mila Jhamai, Ms. Sarah Higgins, and Mr. Marijn Verkerk for their help in creating the Exomechip database, and Ms. Carolina MedinaGomez, Mr. Lennard Karsten, and Dr. Linda Broer. Additional acknowledgments and funding information are provided in the Supplemental Data. NR 96 TC 3 Z9 3 U1 7 U2 8 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD JUL 7 PY 2016 VL 99 IS 1 BP 22 EP 39 DI 10.1016/j.ajhg.2016.05.003 PG 18 WC Genetics & Heredity SC Genetics & Heredity GA DT6TI UT WOS:000381616600003 PM 27346689 ER PT J AU Eicher, JD Chami, N Kacprowski, T Nomura, A Chen, MH Yanek, LR Tajuddin, SM Schick, UM Slater, AJ Pankratz, N Polfus, L Schurmann, C Giri, A Brody, JA Lange, LA Manichaikul, A Hill, WD Pazoki, R Elliot, P Evangelou, E Tzoulaki, I Gao, H Vergnaud, AC Mathias, RA Becker, DM Becker, LC Burt, A Crosslin, DR Lyytikainen, LP Nikus, K Hernesniemi, J Kahonen, M Raitoharju, E Mononen, N Raitakari, OT Lehtimaki, T Cushman, M Zakai, NA Nickerson, DA Raffield, LM Quarells, R Willer, CJ Peloso, GM Abecasis, GR Liu, DJJ Deloukas, P Samani, NJ Schunkert, H Erdmann, J Fornage, M Richard, M Tardif, JC Rioux, JD Dube, MP de Denus, S Lu, YC Bottinger, EP Loos, RJF Smith, AV Harris, TB Launer, LJ Gudnason, V Edwards, DRV Torstenson, ES Liu, YM Tracy, RP Rotter, JI Rich, SS Highland, HM Boerwinkle, E Li, J Lange, E Wilson, JG Mihailov, E Magi, R Hirschhorn, J Metspalu, A Esko, T Vacchi-Suzzi, C Nalls, MA Zonderman, AB Evans, MK Engstrom, G Orho-Melander, M Melander, O O'Donoghue, ML Waterworth, DM Wallentin, L White, HD Floyd, JS Bartz, TM Rice, KM Psaty, BM Starr, JM Liewald, DCM Hayward, C Deary, IJ Greinacher, A Volker, U Thiele, T Volzke, H van Rooij, FJA Uitterlinden, AG Franco, OH Dehghan, A Edwards, TL Ganesh, SK Kathiresan, S Faraday, N Auer, PL Reiner, AP Lettre, G Johnson, AD AF Eicher, John D. Chami, Nathalie Kacprowski, Tim Nomura, Akihiro Chen, Ming-Huei Yanek, Lisa R. Tajuddin, Salman M. Schick, Ursula M. Slater, Andrew J. Pankratz, Nathan Polfus, Linda Schurmann, Claudia Giri, Ayush Brody, Jennifer A. Lange, Leslie A. Manichaikul, Ani Hill, W. David Pazoki, Raha Elliot, Paul Evangelou, Evangelos Tzoulaki, Ioanna Gao, He Vergnaud, Anne-Claire Mathias, Rasika A. Becker, Diane M. Becker, Lewis C. Burt, Amber Crosslin, David R. Lyytikainen, Leo-Pekka Nikus, Kjell Hernesniemi, Jussi Kahonen, Mika Raitoharju, Emma Mononen, Nina Raitakari, Olli T. Lehtimaki, Terho Cushman, Mary Zakai, Neil A. Nickerson, Deborah A. Raffield, Laura M. Quarells, Rakale Willer, Cristen J. Peloso, Gina M. Abecasis, Goncalo R. Liu, Dajiang J. Deloukas, Panos Samani, Nilesh J. Schunkert, Heribert Erdmann, Jeanette Fornage, Myriam Richard, Melissa Tardif, Jean-Claude Rioux, John D. Dube, Marie-Pierre de Denus, Simon Lu, Yingchang Bottinger, Erwin P. Loos, Ruth J. F. Smith, Albert Vernon Harris, Tamara B. Launer, Lenore J. Gudnason, Vilmundur Edwards, Digna R. Velez Torstenson, Eric S. Liu, Yongmei Tracy, Russell P. Rotter, Jerome I. Rich, Stephen S. Highland, Heather M. Boerwinkle, Eric Li, Jin Lange, Ethan Wilson, James G. Mihailov, Evelin Magi, Reedik Hirschhorn, Joel Metspalu, Andres Esko, Tonu Vacchi-Suzzi, Caterina Nalls, Mike A. Zonderman, Alan B. Evans, Michele K. Engstrom, Gunnar Orho-Melander, Marju Melander, Olle O'Donoghue, Michelle L. Waterworth, Dawn M. Wallentin, Lars White, Harvey D. Floyd, James S. Bartz, Traci M. Rice, Kenneth M. Psaty, Bruce M. Starr, J. M. Liewald, David C. M. Hayward, Caroline Deary, Ian J. Greinacher, Andreas Volker, Uwe Thiele, Thomas Volzke, Henry van Rooij, Frank J. A. Uitterlinden, Andre G. Franco, Oscar H. Dehghan, Abbas Edwards, Todd L. Ganesh, Santhi K. Kathiresan, Sekar Faraday, Nauder Auer, Paul L. Reiner, Alex P. Lettre, Guillaume Johnson, Andrew D. CA Global Lipids Genetics Consortium CARDIoGRAM Exome Consortium Myocardial Infarction Genetics TI Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID GENOME-WIDE ASSOCIATION; EPSILON-RI-ALPHA; PIAS-LIKE PROTEIN; IMMUNE THROMBOCYTOPENIA; MYOCARDIAL-INFARCTION; AFRICAN-AMERICANS; SEQUENCE VARIANTS; BLOOD-PRESSURE; BINDING-SITE; IGE BINDING AB Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets' important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively. Using the low-frequency/rare coding variant-enriched Exomechip genotyping array, we sought to identify genetic variants associated with PLT and MPV. In addition to confirming 47 known PLT and 20 known MPV associations, we identified 32 PLT and 18 MPV associations not previously observed in the literature across the allele frequency spectrum, including rare large effect (FCER1A), low-frequency (IQGAP2, MAP1A, LY75), and common(ZMIZ2, SMG6, PEAR1, ARFGAP3/PACSIN2) variants. Several variants associated with PLT/MPV(PEAR1, MRVI1, PTGES3) were also associated with platelet reactivity. In concurrent BCX analyses, there was overlap of platelet-associated variants with red (MAP1A, TMPRSS6, ZMIZ2) and white (PEAR1, ZMIZ2, LY75) blood cell traits, suggesting common regulatory pathways with shared genetic architecture among these hematopoietic lineages. Our large-scale Exomechip analyses identified previously undocumented associations with platelet traits and further indicate that several complex quantitative hematological, lipid, and cardiovascular traits share genetic factors. C1 [Eicher, John D.; Chen, Ming-Huei; Johnson, Andrew D.] NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA. [Chami, Nathalie; Tardif, Jean-Claude; Rioux, John D.; Dube, Marie-Pierre; Lettre, Guillaume] Univ Montreal, Dept Med, Montreal, PQ H3T 1J4, Canada. [Chami, Nathalie; Tardif, Jean-Claude; Rioux, John D.; Dube, Marie-Pierre; de Denus, Simon; Lettre, Guillaume] Montreal Heart Inst, Montreal, PQ H1T 1C8, Canada. 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[O'Donoghue, Michelle L.] Brigham & Womens Hosp, TIMI Study Grp, Div Cardiovasc, Boston, MA 02115 USA. [Waterworth, Dawn M.] GlaxoSmithKline, Target Sci, Genet, King Of Prussia, PA 19406 USA. [Wallentin, Lars] Uppsala Univ, Dept Med Sci, Cardiol, S-75185 Uppsala, Sweden. [Wallentin, Lars] Uppsala Univ, Dept Med Sci, Uppsala Clin Res Ctr, S-75185 Uppsala, Sweden. [White, Harvey D.] Auckland City Hosp, Green Lane Cardiovasc Serv, Auckland 1142, New Zealand. [White, Harvey D.] Univ Auckland, Auckland 1142, New Zealand. [Bartz, Traci M.; Rice, Kenneth M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Psaty, Bruce M.] Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98101 USA. [Psaty, Bruce M.] Univ Washington, Dept Epidemiol, Seattle, WA 98101 USA. [Psaty, Bruce M.] Univ Washington, Dept Hlth Serv, Seattle, WA 98101 USA. [Psaty, Bruce M.] Grp Hlth Res Inst, Grp Hlth Cooperat, Seattle, WA 98101 USA. [Starr, J. M.] Alzheimer Scotland Res Ctr, Edinburgh EH8 9JZ, Midlothian, Scotland. [Hayward, Caroline] Univ Edinburgh, MRC Human Genet Unit, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland. [Greinacher, Andreas; Thiele, Thomas] Univ Med Greifswald, Inst Immunol & Transfus Med, D-17475 Greifswald, Germany. [Volzke, Henry] Univ Med Greifswald, Inst Community Med, D-13347 Greifswald, Germany. [Uitterlinden, Andre G.] Erasmus MC, Dept Internal Med, NL-3000 Rotterdam, Netherlands. [Uitterlinden, Andre G.] Netherlands Consortium Hlth Ageing, NL-3015 Rotterdam, Netherlands. [Ganesh, Santhi K.] Univ Michigan, Dept Internal & Human Genet, Ann Arbor, MI 48108 USA. [Faraday, Nauder] Johns Hopkins Univ, Sch Med, Dept Anesthesiol & Crit Care Med, Baltimore, MD 21205 USA. [Auer, Paul L.] Univ Wisconsin, Zilber Sch Publ Hlth, Milwaukee, WI 53205 USA. [Reiner, Alex P.] Univ Washington, Dept Epidemiol, Seattle, WA 98105 USA. [Eicher, John D.; Chami, Nathalie; Kacprowski, Tim; Nomura, Akihiro; Faraday, Nauder; Auer, Paul L.; Reiner, Alex P.; Lettre, Guillaume; Johnson, Andrew D.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. RP Johnson, AD (reprint author), NHLBI, Populat Sci Branch, Framingham Heart Study, Framingham, MA 01702 USA.; Johnson, AD (reprint author), Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. EM johnsonad2@nhlbi.nih.gov RI Schurmann, Claudia/L-1204-2016; Floyd, James/G-7563-2015; Rioux, John/A-9599-2015; Johnson, Andrew/G-6520-2013; Kacprowski, Tim/K-8650-2013; Deloukas, Panos/B-2922-2013; Dube, Marie-Pierre/B-9364-2008; OI Evangelou, Evangelos/0000-0002-5488-2999; Dehghan, Abbas/0000-0001-6403-016X; Schurmann, Claudia/0000-0003-4158-9192; Rioux, John/0000-0001-7560-8326; Kacprowski, Tim/0000-0002-5393-2413; Deloukas, Panos/0000-0001-9251-070X; Dube, Marie-Pierre/0000-0001-8442-4393; Manichaikul, Ani/0000-0002-5998-795X; Tajuddin, Salman M./0000-0002-7919-8528; Zonderman, Alan B/0000-0002-6523-4778 FU British Heart Foundation [RG/14/5/30893]; Medical Research Council [MC_PC_U127561128, MR/K026992/1]; NCATS NIH HHS [UL1 TR000124, UL1 TR000445]; NHGRI NIH HHS [U01 HG004402, U01 HG004603]; NHLBI NIH HHS [HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, HHSN268201100012C, HHSN268201100037C, HHSN268201300026C, HHSN268201300028C, N01 HC025195, N01 HC095159, N01 HC095160, R01 HL059367, R01 HL086694, R01 HL087641, R01 HL087698, R01 HL112064, R01 HL122684, R01 HL127564, RC2 HL102419, U01 HL072518]; NICHD NIH HHS [R01 HD074711]; NIDDK NIH HHS [P30 DK063491] NR 77 TC 4 Z9 4 U1 3 U2 6 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD JUL 7 PY 2016 VL 99 IS 1 BP 40 EP 55 DI 10.1016/j.ajhg.2016.05.005 PG 16 WC Genetics & Heredity SC Genetics & Heredity GA DT6TI UT WOS:000381616600004 PM 27346686 ER PT J AU Gigante, ED Benaliouad, F Zamora-Olivencia, V Wise, RA AF Gigante, Eduardo D. Benaliouad, Faiza Zamora-Olivencia, Veronica Wise, Roy A. TI Optogenetic Activation of a Lateral Hypothalamic-Ventral Tegmental Drive-Reward Pathway SO PLOS ONE LA English DT Article ID MEDIAL FOREBRAIN-BUNDLE; BRAIN-STIMULATION REWARD; SELF-STIMULATION; ELECTRICAL-STIMULATION; REFRACTORY PERIODS; PREOPTIC AREA; RAT; DOPAMINE; SEEKING; FIBERS AB Electrical stimulation of the lateral hypothalamus can motivate feeding or can serve as a reward in its own right. It remains unclear whether the same or independent but anatomically overlapping circuitries mediate the two effects. Electrical stimulation findings implicate medial forebrain bundle (MFB) fibers of passage in both effects, and optogenetic studies confirm a contribution from fibers originating in the lateral hypothalamic area and projecting to or through the ventral tegmental area. Here we report that optogenetic activation of ventral tegmental fibers from cells of origin in more anterior or posterior portions of the MFB failed to induce either reward or feeding. The feeding and reward induced by optogenetic activation of fibers from the lateral hypothalamic cells of origin were influenced similarly by variations in stimulation pulse width and pulse frequency, consistent with the hypothesis of a common substrate for the two effects. There were, however, several cases where feeding but not self-stimulation or self-stimulation but not feeding were induced, consistent with the hypothesis that distinct but anatomically overlapping systems mediate the two effects. Thus while optogenetic stimulation provides a more selective tool for characterizing the mechanisms of stimulation-induced feeding and reward, it does not yet resolve the question of common or independent substrates. C1 [Gigante, Eduardo D.; Benaliouad, Faiza; Zamora-Olivencia, Veronica; Wise, Roy A.] NIDA, Intramural Res Program, NIH, Dept Hlth & Human Serv, Baltimore, MD 21224 USA. RP Wise, RA (reprint author), NIDA, Intramural Res Program, NIH, Dept Hlth & Human Serv, Baltimore, MD 21224 USA. EM rwise@intra.nida.nih.gov FU Intramural Research Program of the National Institute on Drug Abuse, National Institutes of Health FX This study was funded by the Intramural Research Program of the National Institute on Drug Abuse, National Institutes of Health. NR 48 TC 0 Z9 0 U1 4 U2 4 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 7 PY 2016 VL 11 IS 7 AR e0158885 DI 10.1371/journal.pone.0158885 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR3OC UT WOS:000379811500058 PM 27387668 ER PT J AU Jones, K Ballesteros, A Mentink-Kane, M Warren, J Rattila, S Malech, H Kang, E Dveksler, G AF Jones, Karlie Ballesteros, Angela Mentink-Kane, Margaret Warren, James Rattila, Shemona Malech, Harry Kang, Elizabeth Dveksler, Gabriela TI PSG9 Stimulates Increase in FoxP3(+) Regulatory T-Cells through the TGF-beta 1 Pathway SO PLOS ONE LA English DT Article ID LATENT TGF-BETA; PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN; GROWTH-FACTOR-BETA; TRANSCRIPTION FACTOR FOXP3; GLYCOPROTEIN 1 PSG1; CUTTING EDGE; EXPRESSION; ACTIVATION; RECEPTOR; SURFACE AB The pregnancy-specific glycoproteins (PSGs) are a family of proteins secreted by the syncytiotrophoblast of the placenta and are the most abundant trophoblastic proteins in maternal blood during the third trimester. The human PSG family consists of 10 protein-coding genes, some of which have a possible role in maintaining maternal immune tolerance to the fetus. PSG9 was reported as a potential predictive biomarker of pre-eclampsia, a serious complication of pregnancy that has been related to immunological dysfunction at the fetal-maternal interface. Therefore, we hypothesized that PSG9 may have an immunoregulatory role during pregnancy. We found that PSG9 binds to LAP and activates the latent form of TGF-beta 1. In addition, PSG9 induces the secretion of TGF-beta 1 from macrophages but not from CD4(+) T-cells. TGF-beta 1 is required for the ex vivo differentiation of regulatory T-cells and, consistent with the ability of PSG9 to activate this cytokine, we observed that PSG9 induces the differentiation of FoxP3(+) regulatory T-cells from naive murine and human T-cells. Cytokines that are associated with inflammatory responses were also reduced in the supernatants of T-cells treated with PSG9, suggesting that PSG9, through its activation of TGF beta-1, could be a potent inducer of immune tolerance. C1 [Jones, Karlie; Malech, Harry; Kang, Elizabeth] NIAID, NIH, Bethesda, MD USA. [Ballesteros, Angela] NIDCD, NIH, Bethesda, MD USA. [Mentink-Kane, Margaret; Warren, James; Rattila, Shemona; Dveksler, Gabriela] USUHS, Dept Pathol, Bethesda, MD USA. RP Dveksler, G (reprint author), USUHS, Dept Pathol, Bethesda, MD USA. EM gabriela.dveksler@usuhs.edu FU USUHS [R0742495]; Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH) [Z-A1-00-0989] FX This work was supported by the USUHS intramural award R0742495 to GD and the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH) under intramural project number Z-A1-00-0989 supported the research reported in this publication. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 52 TC 1 Z9 1 U1 0 U2 2 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 7 PY 2016 VL 11 IS 7 AR e0158050 DI 10.1371/journal.pone.0158050 PG 18 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR3OC UT WOS:000379811500012 PM 27389696 ER PT J AU Curtis, LM Pavletic, SZ AF Curtis, Lauren M. Pavletic, Steven Z. TI IL-2, the next best thing in chronic GVHD therapy? SO BLOOD LA English DT Editorial Material ID VERSUS-HOST-DISEASE C1 [Curtis, Lauren M.; Pavletic, Steven Z.] NCI, Bethesda, MD 20892 USA. RP Curtis, LM (reprint author), NCI, Bethesda, MD 20892 USA. NR 8 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD JUL 7 PY 2016 VL 128 IS 1 BP 13 EP 15 DI 10.1182/blood-2016-05-711796 PG 5 WC Hematology SC Hematology GA DQ5MN UT WOS:000379249600007 PM 27389542 ER PT J AU Saba, NS Liu, DL Herman, SEM Underbayev, C Tian, X Behrend, D Weniger, MA Skarzynski, M Gyamfi, J Fontan, L Melnick, A Grant, C Roschewski, M Navarro, A Bea, S Pittaluga, S Dunleavy, K Wilson, WH Wiestner, A AF Saba, Nakhle S. Liu, Delong Herman, Sarah E. M. Underbayev, Chingiz Tian, Xin Behrend, David Weniger, Marc A. Skarzynski, Martin Gyamfi, Jennifer Fontan, Lorena Melnick, Ari Grant, Cliona Roschewski, Mark Navarro, Alba Bea, Silvia Pittaluga, Stefania Dunleavy, Kieron Wilson, Wyndham H. Wiestner, Adrian TI Pathogenic role of B-cell receptor signaling and canonical NF-kappa B activation in mantle cell lymphoma SO BLOOD LA English DT Article ID CHRONIC LYMPHOCYTIC-LEUKEMIA; NON-HODGKIN-LYMPHOMA; SMALL-MOLECULE INHIBITORS; WALDENSTROMS MACROGLOBULINEMIA; TARGETING BTK; IBRUTINIB; EXPRESSION; THERAPY; KINASE; SOX11 AB To interrogate signaling pathways activated in mantle cell lymphoma (MCL) in vivo, we contrasted gene expression profiles of 55 tumor samples isolated from blood and lymph nodes from 43 previously untreated patients with active disease. In addition to lymph nodes, MCL often involves blood, bone marrow, and spleen and is incurable for most patients. Recently, the Bruton tyrosine kinase (BTK) inhibitor ibrutinib demonstrated important clinical activity in MCL. However, the role of specific signaling pathways in the lymphomagenesis of MCL and the biologic basis for ibrutinib sensitivity of these tumors are unknown. Here, we demonstrate activation of B-cell receptor (BCR) and canonical NF-kappa B signaling specifically in MCL cells in the lymph node. Quantification of BCR signaling strength, reflected in the expression of BCR regulated genes, identified a subset of patients with inferior survival after cytotoxic therapy. Tumor proliferation was highest in the lymph node and correlated with the degree of BCR activation. A subset of leukemic tumors showed active BCR and NF-kB signaling apparently independent of microenvironmental support. In one of these samples, we identified a novel somatic mutation in RELA (E39Q). This sample was resistant to ibrutinib-mediated inhibition of NF-kappa B and apoptosis. In addition, we identified germ line variants in genes encoding regulators of the BCR and NF-kB pathway previously implicated in lymphomagenesis. In conclusion, BCR signaling, activated in the lymph node microenvironment in vivo, appears to promote tumor proliferation and survival and may explain the sensitivity of this lymphoma to BTK inhibitors. C1 [Saba, Nakhle S.; Liu, Delong; Herman, Sarah E. M.; Underbayev, Chingiz; Behrend, David; Weniger, Marc A.; Skarzynski, Martin; Gyamfi, Jennifer; Wiestner, Adrian] NHLBI, Hematol Branch, NIH, Bld 10,CRC 3-5140,10 Ctr Dr, Bethesda, MD 20892 USA. [Saba, Nakhle S.] Tulane Univ, Dept Med, Sect Hematol & Med Oncol, New Orleans, LA 70118 USA. [Tian, Xin] NHLBI, Off Biostat Res, NIH, Bld 10,CRC 3-5140,10 Ctr Dr, Bethesda, MD 20892 USA. [Fontan, Lorena; Melnick, Ari] Weill Cornell Med Coll, Dept Med, Div Hematol & Med Oncol, New York, NY USA. [Grant, Cliona; Roschewski, Mark; Wilson, Wyndham H.] NCI, Lymphoid Malignancies Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Navarro, Alba; Bea, Silvia] Inst Invest Biomed August Pi & Sunyer, Barcelona, Spain. [Pittaluga, Stefania] NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA. RP Wiestner, A (reprint author), NHLBI, Hematol Branch, NIH, Bld 10,CRC 3-5140,10 Ctr Dr, Bethesda, MD 20892 USA. EM wiestnera@mail.nih.gov RI Navarro, Alba/H-2611-2015 OI Navarro, Alba/0000-0002-4041-0974 FU Intramural Research Programs of the National Heart, Lung, and Blood Institute; National Cancer Institute, National Institutes of Health FX This work was funded by the Intramural Research Programs of the National Heart, Lung, and Blood Institute and the National Cancer Institute, National Institutes of Health. NR 45 TC 5 Z9 5 U1 3 U2 9 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD JUL 7 PY 2016 VL 128 IS 1 BP 82 EP 92 DI 10.1182/blood-2015-11-681460 PG 11 WC Hematology SC Hematology GA DQ5MN UT WOS:000379249600016 PM 27127301 ER PT J AU Torres-Salgado, JF Comas-Garcia, M Villagrana-Escareno, MV Duran-Meza, AL Ruiz-Garcia, J Cadena-Nava, RD AF Torres-Salgado, Jose F. Comas-Garcia, Mauricio Villagrana-Escareno, Maria V. Duran-Meza, Ana L. Ruiz-Garcia, Jaime Cadena-Nava, Ruben D. TI Physicochemical Study of Viral Nanoparticles at the Air/Water Interface SO JOURNAL OF PHYSICAL CHEMISTRY B LA English DT Article ID LANGMUIR-BLODGETT-FILMS; GOLD NANOPARTICLES; PROTEIN ADSORPTION; COLLOIDAL CRYSTALS; CARBON NANOTUBES; CAPSID PROTEIN; PHASE-DIAGRAM; AIR-WATER; MONOLAYERS; PARTICLES AB The assembly of most single-stranded RNA (ssRNA) viruses into icosahedral nucleocapsids is a spontaneous process driven by protein protein and RNA protein interactions. The precise nature of these interactions results in the assembly of extremely monodisperse and structurally indistinguishable nucleocapsids. In this work, by using a ssRNA plant virus (cowpea chlorotic mottle virus [CCMV]) as a charged nanoparticle we show that the diffusion of these nanoparticles from the bulk solution to the air/water interface is an irreversible adsorption process. By using the Langmuir technique, we measured the diffusion and adsorption of viral nucleocapsids at the air/water interface at different pH conditions. The pH changes, and therefore in the net surface charge of the virions, have a great influence in the diffusion rate from the bulk solution to the air/water interface. Moreover, assembly of mesoscopic and microscopic viral aggregates at this interface depends on the net surface charge of the virions and the surface pressure. By using Brewster's angle microscopy we characterized these structures at the interface. Most common structures observed were clusters of virions and soap-frothlike micron-size structures. Furthermore, the CCMV films were compressed to form monolayers and multilayers from moderate to high surface pressures, respectively. After transferring the films from the air/water interface onto mica by using the Langmuir-Blodgett technique, their morphology was characterized by atomic force microscopy. These viral monolayers showed closed-packing nano- and microscopic arrangements. C1 [Torres-Salgado, Jose F.; Villagrana-Escareno, Maria V.; Duran-Meza, Ana L.; Ruiz-Garcia, Jaime] Univ Autonoma San Luis Potosi, Inst Fis, Alvaro Obregon 64, San Luis Potosi 78000, San Luis Potosi, Mexico. [Comas-Garcia, Mauricio] NCI, HIV Dynam & Replicat Program, Frederick, MD 21702 USA. [Cadena-Nava, Ruben D.] Univ Nacl Autonoma Mexico, Ctr Nanociencias & Nanotecnol, Carretera Tijuana Ensenada Km 107, Ensenada 22860, Baja California, Mexico. RP Ruiz-Garcia, J (reprint author), Univ Autonoma San Luis Potosi, Inst Fis, Alvaro Obregon 64, San Luis Potosi 78000, San Luis Potosi, Mexico.; Cadena-Nava, RD (reprint author), Univ Nacl Autonoma Mexico, Ctr Nanociencias & Nanotecnol, Carretera Tijuana Ensenada Km 107, Ensenada 22860, Baja California, Mexico. EM jaime@dec1.ifisica.uaslp.mx; rcadena74@gmail.com OI Comas-Garcia, Mauricio/0000-0002-7733-5138 FU Consejo Nacional de Ciencia y Tecnologia (CONACYT) [237439, 239878, 225019, 248787] FX We would like to acknowledge the support from the Consejo Nacional de Ciencia y Tecnologia (CONACYT) Grants 237439, 239878, 225019, and 248787. NR 48 TC 0 Z9 0 U1 9 U2 15 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1520-6106 J9 J PHYS CHEM B JI J. Phys. Chem. B PD JUL 7 PY 2016 VL 120 IS 26 BP 5864 EP 5873 DI 10.1021/acs.jpcb.6b00624 PG 10 WC Chemistry, Physical SC Chemistry GA DQ8JN UT WOS:000379457200010 PM 26999022 ER PT J AU Berezhkovskii, AM Szabo, A AF Berezhkovskii, Alexander M. Szabo, Attila TI Theory of Crowding Effects on Bimolecular Reaction Rates SO JOURNAL OF PHYSICAL CHEMISTRY B LA English DT Article ID PHYSIOLOGICAL CONSEQUENCES; DIFFUSION; CONFINEMENT; CYTOPLASM; BINDING; VOLUME AB An analytical expression for the rate constant of a diffusion-influenced bimolecular reaction in a crowded environment is derived in the framework of a microscopic model that accounts for: (1) the slowdown of diffusion due to crowding and the dependence of the diffusivity on the distance between the reactants, (2) a crowding induced attractive short-range potential of mean force, and (3) nonspecific reversible binding to the crowders. This expression spans the range from reaction to diffusion control. Crowding can increase the reaction-controlled rate by inducing an effective attraction between reactants but decrease the diffusion-controlled rate by reducing their relative diffusivity. C1 [Berezhkovskii, Alexander M.] NIH, Math & Stat Comp Lab, Div Computat Biosci, Ctr Informat Technol, Bldg 10, Bethesda, MD 20892 USA. [Szabo, Attila] Natl Inst Diabet & Digest & Kidney Dis, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. RP Szabo, A (reprint author), Natl Inst Diabet & Digest & Kidney Dis, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. EM attilas@niddk.nih.gov RI Szabo, Attila/H-3867-2012 FU Intramural Research Program of the NIH, Center for Information Technology; National Institute of Diabetes and Digestive and Kidney Diseases FX We are grateful to Allen Minton for helpful discussions. This study was supported by the Intramural Research Program of the NIH, Center for Information Technology and National Institute of Diabetes and Digestive and Kidney Diseases. NR 26 TC 0 Z9 0 U1 7 U2 11 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1520-6106 J9 J PHYS CHEM B JI J. Phys. Chem. B PD JUL 7 PY 2016 VL 120 IS 26 BP 5998 EP 6002 DI 10.1021/acs.jpcb.6b01892 PG 5 WC Chemistry, Physical SC Chemistry GA DQ8JN UT WOS:000379457200025 PM 27096470 ER PT J AU Behrens, T Gross, I Siemiatycki, J Conway, DI Olsson, A Stucker, I Guida, F Jockel, KH Pohlabeln, H Ahrens, W Bruske, I Wichmann, HE Gustavsson, P Consonni, D Merletti, F Richiardi, L Simonato, L Fortes, C Parent, ME McLaughlin, J Demers, P Landi, MT Caporaso, N Zaridze, D Szeszenia-Dabrowska, N Rudnai, P Lissowska, J Fabianova, E Tardon, A Field, JK Dumitru, RS Bencko, V Foretova, L Janout, V Kromhout, H Vermeulen, R Boffetta, P Straif, K Schuz, J Hovanec, J Kendzia, B Pesch, B Bruning, T AF Behrens, Thomas Gross, Isabelle Siemiatycki, Jack Conway, David I. Olsson, Ann Stuecker, Isabelle Guida, Florence Joeckel, Karl-Heinz Pohlabeln, Hermann Ahrens, Wolfgang Brueske, Irene Wichmann, Heinz-Erich Gustavsson, Per Consonni, Dario Merletti, Franco Richiardi, Lorenzo Simonato, Lorenzo Fortes, Cristina Parent, Marie-Elise McLaughlin, John Demers, Paul Landi, Maria Teresa Caporaso, Neil Zaridze, David Szeszenia-Dabrowska, Neonila Rudnai, Peter Lissowska, Jolanta Fabianova, Eleonora Tardon, Adonina Field, John K. Dumitru, Rodica Stanescu Bencko, Vladimir Foretova, Lenka Janout, Vladimir Kromhout, Hans Vermeulen, Roel Boffetta, Paolo Straif, Kurt Schuez, Joachim Hovanec, Jan Kendzia, Benjamin Pesch, Beate Bruening, Thomas TI Occupational prestige, social mobility and the association with lung cancer in men SO BMC CANCER LA English DT Article DE Life course; Occupational history; Social prestige; Socio-economic status; SYNERGY; Transitions ID SOCIOECONOMIC-STATUS; EDUCATIONAL INEQUALITIES; HEALTH RESEARCH; LIFE-COURSE; RISK; MORTALITY; SMOKING; INDICATORS; POSITION; US AB Background: The nature of the association between occupational social prestige, social mobility, and risk of lung cancer remains uncertain. Using data from the international pooled SYNERGY case-control study, we studied the association between lung cancer and the level of time-weighted average occupational social prestige as well as its lifetime trajectory. Methods: We included 11,433 male cases and 14,147 male control subjects. Each job was translated into an occupational social prestige score by applying Treiman's Standard International Occupational Prestige Scale (SIOPS). SIOPS scores were categorized as low, medium, and high prestige (reference). We calculated odds ratios (OR) with 95 % confidence intervals (CI), adjusting for study center, age, smoking, ever employment in a job with known lung carcinogen exposure, and education. Trajectories in SIOPS categories from first to last and first to longest job were defined as consistent, downward, or upward. We conducted several subgroup and sensitivity analyses to assess the robustness of our results. Results: We observed increased lung cancer risk estimates for men with medium (OR = 1.23; 95 % CI 1.13-1.33) and low occupational prestige (OR = 1.44; 95 % CI 1.32-1.57). Although adjustment for smoking and education reduced the associations between occupational prestige and lung cancer, they did not explain the association entirely. Traditional occupational exposures reduced the associations only slightly. We observed small associations with downward prestige trajectories, with ORs of 1.13, 95 % CI 0.88-1.46 for high to low, and 1.24; 95 % CI 1.08-1.41 for medium to low trajectories. Conclusions: Our results indicate that occupational prestige is independently associated with lung cancer among men. C1 [Behrens, Thomas; Gross, Isabelle; Hovanec, Jan; Kendzia, Benjamin; Pesch, Beate; Bruening, Thomas] Inst Ruhr Univ Bochum, Inst Prevent & Occupat Med German Social Accident, Brkle de La Camp Pl 1, D-44789 Bochum, Germany. [Siemiatycki, Jack] Univ Montreal, Hosp Res Ctr CRCHUM, Montreal, PQ, Canada. [Siemiatycki, Jack] Univ Montreal, Sch Publ Hlth, Montreal, PQ, Canada. [Conway, David I.] Univ Glasgow, Sch Dent, Coll Med Vet & Life Sci, Glasgow G2 3JZ, Lanark, Scotland. [Olsson, Ann; Straif, Kurt; Schuez, Joachim] IARC, Lyon, France. [Olsson, Ann] Karolinska Inst, Inst Environm Med, Stockholm, Sweden. [Stuecker, Isabelle; Guida, Florence] INSERM, Ctr Res Epidemiol & Populat Hlth CESP, F-94807 Villejuif, France. [Stuecker, Isabelle; Guida, Florence] Univ Paris 11, UMRS 1018, F-94807 Villejuif, France. [Joeckel, Karl-Heinz] Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany. [Pohlabeln, Hermann; Ahrens, Wolfgang] Leibniz Inst Prevent Res & Epidemiol BIPS GmbH, Bremen, Germany. [Ahrens, Wolfgang] Univ Bremen, Inst Stat, Bremen, Germany. [Brueske, Irene; Wichmann, Heinz-Erich] Helmholtz Zentrum Munchen, Inst Epidemiol, Neuherberg, Germany. [Consonni, Dario] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Milan, Italy. [Merletti, Franco; Richiardi, Lorenzo] Univ Turin, Dept Med Sci, Canc Epidemiol Unit, Turin, Italy. [Simonato, Lorenzo] Univ Padua, Dept Mol Med, Lab Publ Hlth & Populat Studies, Padua, Italy. [Fortes, Cristina] Ist Dermopatico Immacolata, Epidemiol Unit, Rome, Italy. [Parent, Marie-Elise] Univ Quebec, INRS Inst Armand Frappier, Laval, PQ, Canada. [McLaughlin, John] Occupat Canc Res Ctr, Canc Care Ontario, Toronto, ON, Canada. [Landi, Maria Teresa; Caporaso, Neil] NCI, Div Canc Epidemiol & Genet, Bethesda, MD USA. [Zaridze, David] Russian Canc Res Ctr, Inst Carcinogenesis, Moscow, Russia. [Szeszenia-Dabrowska, Neonila] Nofer Inst Occupat Med, Lodz, Poland. [Rudnai, Peter] Natl Ctr Publ Hlth, Budapest, Hungary. [Lissowska, Jolanta] M Sklodowska Curie Canc Ctr, Warsaw, Poland. [Lissowska, Jolanta] Inst Oncol, Warsaw, Poland. [Fabianova, Eleonora] Prevent Occupat Med, Reg Author Publ Hlth, Banska Bystrica, Slovakia. [Tardon, Adonina] Univ Oviedo Ciber Epidemiol, CIBERESP, Mol Epidemiol Canc Unit, Oviedo, Spain. [Field, John K.] Univ Liverpool, Canc Res Ctr, Roy Castle Lung Canc Res Programme, Liverpool, Merseyside, England. [Field, John K.] Univ Liverpool, Inst Translat Med, Dept Mol & Clin Canc Med, Liverpool, Merseyside, England. [Dumitru, Rodica Stanescu] Natl Inst Publ Hlth, Bucharest, Romania. [Bencko, Vladimir] Charles Univ Prague, Fac Med 1, Inst Hyg & Epidemiol, Prague, Czech Republic. [Foretova, Lenka] Masaryk Univ, Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic. [Foretova, Lenka] Masaryk Univ, Fac Med, Brno, Czech Republic. [Janout, Vladimir] Palacky Univ, Fac Med, Olomouc, Czech Republic. [Kromhout, Hans; Vermeulen, Roel] Univ Utrecht, Inst Risk Assessment Sci, Environm Epidemiol Div, Utrecht, Netherlands. [Boffetta, Paolo] Icahn Sch Med Mt Sinai, Inst Canc, New York, NY USA. [Wichmann, Heinz-Erich] Icahn Sch Med Mt Sinai, Inst Translat Epidemiol, New York, NY USA. [Janout, Vladimir] Tech Univ Munich, Inst Med Stat & Epidemiol, Munich, Germany. Univ Ostrava, Fac Med, Ostrava, Czech Republic. RP Behrens, T (reprint author), Inst Ruhr Univ Bochum, Inst Prevent & Occupat Med German Social Accident, Brkle de La Camp Pl 1, D-44789 Bochum, Germany. EM behrens@ipa-dguv.de RI Consonni, Dario/K-7943-2016; Bruning, Thomas/G-8120-2015; Vermeulen, Roel/F-8037-2011; OI Consonni, Dario/0000-0002-8935-3843; Bruning, Thomas/0000-0001-9560-5464; Vermeulen, Roel/0000-0003-4082-8163; Ahrens, Wolfgang/0000-0003-3777-570X FU German Social Accident Insurance [FP 271]; Canadian Institutes of Health Research and Guzzo-SRC Chair in Environment and Cancer; Fondation de France; German Federal Ministry of Education, Science, Research, and Technology; Ministry of Labour and Social Affairs; EC's INCO-COPERNICUS Program; Polish State Committee for Science Research; Roy Castle Foundation; NIH/NCI/DCEG Intramural Research Program; Lombardy Region; INAIL; European Union Nuclear Fission Safety Program; Italian Association for Cancer Research; Region Piedmont; Compagnia di San Paolo; Europe Against Cancer Program; Swedish Council for Work Life Research; Swedish EPA; University of Oviedo; European Regional Development Fund; State Budget of the Czech Republic (RECAMO) [CZ.1.05/2.1.00/03.0101]; CIBERESP; [FISS-PI060604] FX This work was supported by the German Social Accident Insurance (grant number FP 271). Grant sponsors of the individual studies were the Canadian Institutes of Health Research and Guzzo-SRC Chair in Environment and Cancer; the Fondation de France; the German Federal Ministry of Education, Science, Research, and Technology and the Ministry of Labour and Social Affairs; EC's INCO-COPERNICUS Program; Polish State Committee for Science Research; Roy Castle Foundation; NIH/NCI/DCEG Intramural Research Program; Lombardy Region; INAIL and the European Union Nuclear Fission Safety Program; Italian Association for Cancer Research; Region Piedmont; Compagnia di San Paolo; Europe Against Cancer Program, the Swedish Council for Work Life Research and the Swedish EPA; the University of Oviedo; the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101); CIBERESP; and FISS-PI060604. NR 37 TC 0 Z9 0 U1 9 U2 10 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2407 J9 BMC CANCER JI BMC Cancer PD JUL 7 PY 2016 VL 16 AR 395 DI 10.1186/s12885-016-2432-9 PG 12 WC Oncology SC Oncology GA DQ3TB UT WOS:000379124600001 PM 27388894 ER PT J AU Ding, HY Smith, RG Poleg-Polsky, A Diamond, JS Briggman, KL AF Ding, Huayu Smith, Robert G. Poleg-Polsky, Alon Diamond, Jeffrey S. Briggman, Kevin L. TI Species-specific wiring for direction selectivity in the mammalian retina SO NATURE LA English DT Article ID STARBURST AMACRINE CELLS; RABBIT RETINA; MOUSE RETINA; GANGLION-CELLS; NEURAL COMPUTATION; SYNAPTIC INPUT; AXIAL LENGTH; DENDRITES; CIRCUIT; MOTION AB Directionally tuned signalling in starburst amacrine cell (SAC) dendrites lies at the heart of the circuit that detects the direction of moving stimuli in the mammalian retina. The relative contributions of intrinsic cellular properties and network connectivity to SAC direction selectivity remain unclear. Here we present a detailed connectomic reconstruction of SAC circuitry in mouse retina and describe two previously unknown features of synapse distributions along SAC dendrites: input and output synapses are segregated, with inputs restricted to proximal dendrites; and the distribution of inhibitory inputs is fundamentally different from that observed in rabbit retina. An anatomically constrained SAC network model suggests that SAC-SAC wiring differences between mouse and rabbit retina underlie distinct contributions of synaptic inhibition to velocity and contrast tuning and receptive field structure. In particular, the model indicates that mouse connectivity enables SACs to encode lower linear velocities that account for smaller eye diameter, thereby conserving angular velocity tuning. These predictions are confirmed with calcium imaging of mouse SAC dendrites responding to directional stimuli. C1 [Ding, Huayu; Poleg-Polsky, Alon; Diamond, Jeffrey S.] NINDS, Synapt Physiol Sect, Bethesda, MD 20892 USA. [Smith, Robert G.] Univ Penn, Dept Neurosci, Philadelphia, PA 19104 USA. [Briggman, Kevin L.] Max Planck Inst Med Res, Dept Biomed Opt, Jahnstr 29, D-69120 Heidelberg, Germany. [Briggman, Kevin L.] NINDS, Circuit Dynam & Connect Unit, Bethesda, MD 20892 USA. RP Briggman, KL (reprint author), Max Planck Inst Med Res, Dept Biomed Opt, Jahnstr 29, D-69120 Heidelberg, Germany.; Briggman, KL (reprint author), NINDS, Circuit Dynam & Connect Unit, Bethesda, MD 20892 USA. EM kevin.briggman@nih.gov RI Diamond, Jeffrey/C-1835-2015 OI Diamond, Jeffrey/0000-0002-1770-2629 FU NIH [EY016607, EY022070]; NINDS [NS003145, NS003133]; Max-Planck Society; Pew Charitable Trusts FX We thank W. Denk for supporting the collection of the serial block-face scanning electron microscopy data in his laboratory. This work was supported by NIH grants EY016607 and EY022070 (RGS), by the NINDS Intramural Research Program (NS003145; J.S.D.) and (NS003133; K.L.B.), the Max-Planck Society (K.L.B.), and the Pew Charitable Trusts (K.L.B.). NR 47 TC 7 Z9 7 U1 6 U2 11 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD JUL 7 PY 2016 VL 535 IS 7610 BP 105 EP + DI 10.1038/nature18609 PG 17 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ2EU UT WOS:000379015600033 PM 27350241 ER PT J AU Zhang, R Miner, JJ Gorman, MJ Rausch, K Ramage, H White, JP Zuiani, A Zhang, P Fernandez, E Zhang, Q Dowd, KA Pierson, TC Cherry, S Diamond, MS AF Zhang, Rong Miner, Jonathan J. Gorman, Matthew J. Rausch, Keiko Ramage, Holly White, James P. Zuiani, Adam Zhang, Ping Fernandez, Estefania Zhang, Qiang Dowd, Kimberly A. Pierson, Theodore C. Cherry, Sara Diamond, Michael S. TI A CRISPR screen defines a signal peptide processing pathway required by flaviviruses SO NATURE LA English DT Article ID WEST-NILE-VIRUS; BORNE ENCEPHALITIS-VIRUS; HEPATITIS-C VIRUS; MONOCLONAL-ANTIBODIES; ENVELOPE PROTEIN; HUMAN-CELLS; INFECTION; GENES; NEUTRALIZATION; IDENTIFICATION AB Flaviviruses infect hundreds of millions of people annually, and no antiviral therapy is available(1,2). We performed a genome-wide CRISPR/Cas9-based screen to identify host genes that, when edited, resulted in reduced flavivirus infection. Here, we validated nine human genes required for flavivirus infectivity, and these were associated with endoplasmic reticulum functions including translocation, protein degradation, and N-linked glycosylation. In particular, a subset of endoplasmic reticulum-associated signal peptidase complex (SPCS) proteins was necessary for proper cleavage of the flavivirus structural proteins (prM and E) and secretion of viral particles. Loss of SPCS1 expression resulted in markedly reduced yield of all Flaviviridae family members tested (West Nile, dengue, Zika, yellow fever, Japanese encephalitis, and hepatitis C viruses), but had little impact on alphavirus, bunyavirus, or rhabdovirus infection or the surface expression or secretion of diverse host proteins. We found that SPCS1 dependence could be bypassed by replacing the native prM protein leader sequences with a class I major histocompatibility complex (MHC) antigen leader sequence. Thus, SPCS1, either directly or indirectly via its interactions with host proteins, preferentially promotes the processing of specific protein cargo, and Flaviviridae have a unique dependence on this signal peptide processing pathway. SPCS1 and other signal processing pathway members could represent pharmacological targets for inhibiting infection by the expanding number of flaviviruses of medical concern. C1 [Zhang, Rong; Miner, Jonathan J.; Gorman, Matthew J.; White, James P.; Zuiani, Adam; Zhang, Ping; Fernandez, Estefania; Zhang, Qiang; Diamond, Michael S.] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA. [Rausch, Keiko; Ramage, Holly; Cherry, Sara] Univ Penn, Dept Microbiol, Perelman Sch Med, Philadelphia, PA 19104 USA. [Zhang, Ping] Sun Yat Sen Univ, Inst Human Virol, Zhongshan Sch Med, Dept Immunol, Guangzhou 510080, Guangdong, Peoples R China. [Dowd, Kimberly A.; Pierson, Theodore C.] NIAID, Viral Pathogenesis Sect, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Diamond, Michael S.] Washington Univ, Sch Med, Dept Mol Microbiol, St Louis, MO 63110 USA. [Diamond, Michael S.] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA. [Diamond, Michael S.] Washington Univ, Sch Med, Ctr Human Immunol & Immunotherapy Programs, St Louis, MO 63110 USA. RP Diamond, MS (reprint author), Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA.; Diamond, MS (reprint author), Washington Univ, Sch Med, Dept Mol Microbiol, St Louis, MO 63110 USA.; Diamond, MS (reprint author), Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA.; Diamond, MS (reprint author), Washington Univ, Sch Med, Ctr Human Immunol & Immunotherapy Programs, St Louis, MO 63110 USA. EM diamond@borcim.wustl.edu FU NIH [U19 AI083019, U19 AI106772, R01 AI104972, T32 AI007163]; Washington University Institute of Clinical and Translational Sciences from the National Center for Advancing Translational Sciences [UL1 TR000448]; Washington University Institute of Clinical and Translational Sciences from the National Institute of General Medical Sciences [P41 GM103422-35]; NIAID FX This work was supported by NIH grants U19 AI083019 (M.S.D.), U19 AI106772 (M.S.D.), R01 AI104972 (M.S.D.), and T32 AI007163 (E.F.) and by the Washington University Institute of Clinical and Translational Sciences (UL1 TR000448 from the National Center for Advancing Translational Sciences and P41 GM103422-35 from the National Institute of General Medical Sciences). T.C.P and K.A.D are supported by the intramural program of NIAID. We thank R. Kuhn, A. Garcia-Sastre, H. Zhao, D. Fremont, X. Wang, and R. Townsend for reagents, experimental advice, and data analysis; P. Erdmann-Gilmore, R. Connors, Y. Mi, and H. Lin for expert technical assistance; and X. de Lamballerie and the European Virus Archive goes Global (EVAg) for consenting to the use of H/PF/2013 ZIKV strain for this study under a material transfer agreement with the EVAg parter, Aix-Marseille Universite. NR 49 TC 23 Z9 23 U1 28 U2 69 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD JUL 7 PY 2016 VL 535 IS 7610 BP 164 EP + DI 10.1038/nature18625 PG 19 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ2EU UT WOS:000379015600045 PM 27383988 ER PT J AU Boyden, SE Metcalfe, DD Komarow, HD AF Boyden, Steven E. Metcalfe, Dean D. Komarow, Hirsh D. TI Vibratory Urticaria and ADGRE2 REPLY SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Letter ID PHYSICAL HYPERSENSITIVITY; ANGIOEDEMA C1 [Boyden, Steven E.] NHGRI, Bethesda, MD 20892 USA. [Metcalfe, Dean D.; Komarow, Hirsh D.] NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Komarow, HD (reprint author), NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM komarowh@mail.nih.gov NR 3 TC 0 Z9 0 U1 0 U2 0 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD JUL 7 PY 2016 VL 375 IS 1 BP 95 EP 95 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA DQ1ZP UT WOS:000379000200024 PM 27406365 ER PT J AU Volkow, ND McLellan, AT AF Volkow, Nora D. McLellan, A. Thomas TI Mitigation Strategies for Opioid Abuse REPLY SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Letter C1 [Volkow, Nora D.] NIH, Bldg 10, Bethesda, MD 20892 USA. [McLellan, A. Thomas] Treatment Res Inst, Philadelphia, PA USA. RP Volkow, ND (reprint author), NIH, Bldg 10, Bethesda, MD 20892 USA. EM nvolkow@nida.nih.gov NR 0 TC 0 Z9 0 U1 0 U2 0 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD JUL 7 PY 2016 VL 375 IS 1 BP 96 EP 96 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA DQ1ZP UT WOS:000379000200027 PM 27406367 ER PT J AU Bronte, V Brandau, S Chen, SH Colombo, MP Frey, AB Greten, TF Mandruzzato, S Murray, PJ Ochoa, A Ostrand-Rosenberg, S Rodriguez, PC Sica, A Umansky, V Vonderheide, RH Gabrilovich, DI AF Bronte, Vincenzo Brandau, Sven Chen, Shu-Hsia Colombo, Mario P. Frey, Alan B. Greten, Tim F. Mandruzzato, Susanna Murray, Peter J. Ochoa, Augusto Ostrand-Rosenberg, Suzanne Rodriguez, Paulo C. Sica, Antonio Umansky, Viktor Vonderheide, Robert H. Gabrilovich, Dmitry I. TI Recommendations for myeloid-derived suppressor cell nomenclature and characterization standards SO NATURE COMMUNICATIONS LA English DT Review ID TUMOR-BEARING MICE; T-CELLS; IMMUNE-RESPONSE; DENDRITIC CELLS; HUMAN CANCERS; LUNG-CANCER; CROSS-TALK; IN-VIVO; MACROPHAGES; DIFFERENTIATION AB Myeloid-derived suppressor cells (MDSCs) have emerged as major regulators of immune responses in cancer and other pathological conditions. In recent years, ample evidence supports key contributions of MDSC to tumour progression through both immune-mediated mechanisms and those not directly associated with immune suppression. MDSC are the subject of intensive research with >500 papers published in 2015 alone. However, the phenotypic, morphological and functional heterogeneity of these cells generates confusion in investigation and analysis of their roles in inflammatory responses. The purpose of this communication is to suggest characterization standards in the burgeoning field of MDSC research. C1 [Bronte, Vincenzo] Univ Verona, Univ Hosp, Dept Med, I-37134 Verona, Italy. [Brandau, Sven] Univ Hosp Essen, Dept Otorhinolaryngol, D-45122 Essen, Germany. [Chen, Shu-Hsia] Icahn Sch Med Mt Sinai, Inst Immunol, Tisch Canc Inst, Dept Oncol Sci, New York, NY 10029 USA. [Colombo, Mario P.] Fdn IRCCS Ist Nazl Tumori, Dept Expt Oncol & Mol Med, Mol Immunol Unit, I-20133 Milan, Italy. [Frey, Alan B.] New York Univ, Sch Med, New York, NY 10029 USA. [Greten, Tim F.] NCI, Thorac & GI Oncol Branch, GI Malignancy Sect, Bethesda, MD 20892 USA. [Mandruzzato, Susanna] Univ Padua, Dept Surg Oncol & Gastroenterol, Sect Oncol & Immunol, I-35128 Padua, Italy. [Mandruzzato, Susanna] IRCCS, Veneto Inst Oncol IOV, I-35128 Padua, Italy. [Murray, Peter J.] St Jude Childrens Res Hosp, Dept Infect Dis, Memphis, TN 38105 USA. [Murray, Peter J.] St Jude Childrens Res Hosp, Dept Immunol, Memphis, TN 38105 USA. [Ochoa, Augusto] Louisiana State Univ, Stanley S Scott Canc Ctr, New Orleans, LA 70112 USA. [Ostrand-Rosenberg, Suzanne] Univ Maryland Baltimore Cty, Baltimore, MD 21250 USA. [Rodriguez, Paulo C.] Georgia Regents Univ, Ctr Canc, Augusta, GA 30912 USA. [Sica, Antonio] Humanitas Clin & Res Ctr, Via Manzoni 56, I-20089 Milan, Italy. [Sica, Antonio] Univ Piemonte Orientale Amedeo Avogadro, Dept Pharmaceut Sci, Via Bovio 6, I-20089 Novara, Italy. [Umansky, Viktor] German Canc Res Ctr, Skin Canc Unit, D-69120 Heidelberg, Germany. [Umansky, Viktor] Ruprecht Karl Univ Heidelberg, Univ Med Ctr Mannheim, Dept Dermatol Venereol & Allergol, D-69120 Mannheim, Germany. [Vonderheide, Robert H.; Gabrilovich, Dmitry I.] Univ Penn, Abramson Canc Ctr, Sch Med, Philadelphia, PA 19104 USA. [Gabrilovich, Dmitry I.] Wistar Inst Anat & Biol, Translat Tumor Immunol, Philadelphia, PA 19104 USA. RP Bronte, V (reprint author), Univ Verona, Univ Hosp, Dept Med, I-37134 Verona, Italy.; Gabrilovich, DI (reprint author), Wistar Inst Anat & Biol, Translat Tumor Immunol, Philadelphia, PA 19104 USA. EM vincenzo.bronte@univr.it; dgabrilovich@wistar.org RI Bronte, Vincenzo/K-7902-2016 OI Bronte, Vincenzo/0000-0002-3741-5141 FU NIH [CA 141438, CA 084488, GM021248, CA 184185]; Italian Ministry of Education, Universities and Research (FIRB cup) [B31J11000420001, RBAP11H2R9_005]; Italian Ministry of Education, Universities and Research (PRIN cup) [20103FMJEN_003]; Italian Association for Cancer Research [AIRC 6599, 12182, 12886, 14103, 14194, 15585]; Italian Ministry of Health (FINALIZZATA cup) [E35G1400019001]; Action BM1404 Mye-EUNITER - COST (European Cooperation in Science and Technology); German Research Association (DFG) [2278/2-1]; American Lebanese Syrian Associated Charities of St. Jude Children's Research Hospital [P30 CA21765]; American Lebanese Syrian Associated Charities of Cancer Center Core grant [P30 CA21765]; DKFZ-MOST Cooperation in Cancer Research [CA157] FX This work was supported by NIH grants CA 141438 and CA 084488 to D.I.G., GM021248 to S.O.-R., CA 184185 to P.C.R., grants from the Italian Ministry of Education, Universities and Research (FIRB cup: B31J11000420001; FIRB cup: RBAP11H2R9_005; PRIN cup: 20103FMJEN_003) to V.B. and A.S.; the Italian Association for Cancer Research (AIRC 6599, 12182, 12886, 14103, 14194, 14103 and 15585) and the Italian Ministry of Health (FINALIZZATA cup: E35G1400019001) to V.B., M.P.C., A.S., S.M.; Action BM1404 Mye-EUNITER supported by COST (European Cooperation in Science and Technology) to S.B. and V.U.; the German Research Association (DFG, grant 2278/2-1) to S.B., The American Lebanese Syrian Associated Charities of St. Jude Children's Research Hospital and Cancer Center Core grant P30 CA21765 to P.M. and the DKFZ-MOST Cooperation in Cancer Research (CA157) to V.U. NR 81 TC 33 Z9 34 U1 4 U2 4 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL 6 PY 2016 VL 7 AR 12150 DI 10.1038/ncomms12150 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EH6ET UT WOS:000391866300001 PM 27381735 ER PT J AU Alderson, TR Kim, JH Markley, JL AF Alderson, Thomas Reid Kim, Jin Hae Markley, John Lute TI Dynamical Structures of Hsp70 and Hsp70-Hsp40 Complexes SO STRUCTURE LA English DT Review ID NUCLEOTIDE-BINDING DOMAIN; ESCHERICHIA-COLI DNAJ; HEAT-SHOCK-PROTEIN; X-RAY-SCATTERING; MOLECULAR CHAPERONE HSC70; SUBSTRATE-BINDING; CONFORMATIONAL DYNAMICS; ALLOSTERIC REGULATION; INTERDOMAIN COMMUNICATION; MITOCHONDRIAL HSP70 AB Protein misfolding and aggregation are pathological events that place a significant amount of stress on the maintenance of protein homeostasis (proteostasis). For prevention and repair of protein misfolding and aggregation, cells are equipped with robust mechanisms that mainly rely on molecular chaperones. Two classes of molecular chaperones, heat shock protein 70 kDa (Hsp70) and Hsp40, recognize and bind to mis-folded proteins, preventing their toxic biomolecular aggregation and enabling refolding or targeted degradation. Here, we review the current state of structural biology of Hsp70 and Hsp40-Hsp70 complexes and examine the link between their structures, dynamics, and functions. We highlight the power of nuclear magnetic resonance spectroscopy to untangle complex relationships behind molecular chaperones and their mechanism(s) of action. C1 [Alderson, Thomas Reid] Univ Oxford, Dept Chem, South Parks Rd, Oxford OX1 3TA, England. [Alderson, Thomas Reid] NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. [Kim, Jin Hae; Markley, John Lute] Univ Wisconsin, Dept Biochem, Natl Magnet Resonance Facil Madison, Madison, WI 53706 USA. RP Alderson, TR (reprint author), Univ Oxford, Dept Chem, South Parks Rd, Oxford OX1 3TA, England.; Alderson, TR (reprint author), NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. EM reid.alderson@pmb.ox.ac.uk FU NIH Oxford-Cambridge Scholars Program; US NIH [5U01GM094584] FX The authors thank William Ford Freyberg, Justin L. P. Benesch, and Iva Pritisanac for critically reading the manuscript and providing helpful comments and suggestions. Supported in part by the NIH Oxford-Cambridge Scholars Program and US NIH grant 5U01GM094584. NR 117 TC 4 Z9 4 U1 17 U2 17 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0969-2126 EI 1878-4186 J9 STRUCTURE JI Structure PD JUL 6 PY 2016 VL 24 IS 7 BP 1014 EP 1030 DI 10.1016/j.str.2016.05.011 PG 17 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA DV9EU UT WOS:000383243800002 PM 27345933 ER PT J AU DiMattia, MA Watts, NR Cheng, NQ Huang, R Heymann, JB Grimes, JM Wingfield, PT Stuart, DI Steven, AC AF DiMattia, Michael A. Watts, Norman R. Cheng, Naiqian Huang, Rick Heymann, J. Bernard Grimes, Jonathan M. Wingfield, Paul T. Stuart, David I. Steven, Alasdair C. TI The Structure of HIV-1 Rev Filaments Suggests a Bilateral Model for Rev-RRE Assembly SO STRUCTURE LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; NUCLEAR EXPORT SIGNALS; RESPONSE ELEMENT RRE; MESSENGER-RNA EXPORT; PROTEIN COMPLEXES; GENE-EXPRESSION; BINDING-SITE; ALPHA-HELIX; TYPE-1; RECOGNITION AB HIV-1 Rev protein mediates the nuclear export of viral RNA genomes. To do so, Rev oligomerizes cooperatively onto an RNA motif, the Rev response element (RRE), forming a complex that engages with the host nuclear export machinery. To better understand Rev oligomerization, we determined four crystal structures of Rev N-terminal domain dimers, which show that they can pivot about their dyad axis, giving crossing angles of 90 degrees to 140 degrees. In parallel, we performed cryoelectron microscopy of helical Rev filaments. Filaments vary from 11 to 15 nm in width, reflecting variations in dimer crossing angle. These structures contain additional density, indicating that C-terminal domains become partially ordered in the context of filaments. This conformational variability may be exploited in the assembly of RRE/Rev complexes. Our data also revealed a third interface between Revs, which offers an explanation for how the arrangement of Rev subunits adapts to the "A"-shaped architecture of the RRE in export-active complexes. C1 [DiMattia, Michael A.; Cheng, Naiqian; Huang, Rick; Heymann, J. Bernard; Steven, Alasdair C.] NIAMSD, Lab Struct Biol Res, NIH, Bethesda, MD 20892 USA. [Watts, Norman R.; Wingfield, Paul T.] NIAMSD, Prot Express Lab, NIH, Bethesda, MD 20892 USA. [DiMattia, Michael A.; Grimes, Jonathan M.; Stuart, David I.] Univ Oxford, Div Struct Biol, Henry Wellcome Bldg Genom Med,Roosevelt Dr, Headington OX3 7BN, England. [Grimes, Jonathan M.; Stuart, David I.] Diamond Light Source, Diamond House,Harwell Sci & Innovat Campus, Didcot OX11 0DE, Oxon, England. [DiMattia, Michael A.] Mem Sloan Kettering Canc Ctr, Sloan Kettering Inst, Struct Biol Program, 1275 York Ave, New York, NY 10065 USA. [Huang, Rick] Howard Hughes Med Inst, Janelia Res Campus,19700 Helix Dr, Ashburn, VA 20147 USA. RP Steven, AC (reprint author), NIAMSD, Lab Struct Biol Res, NIH, Bethesda, MD 20892 USA. EM stevena@mail.nih.gov FU National Institute for Arthritis and Musculoskeletal and Skin Diseases; NIH; UK Medical Research Council [G100099]; SPINE2COMPLEXES [LSHGST-2006-031220]; Wellcome Trust [075491/Z/09] FX We thank Stephen J. Stahl, Ira Palmer, and Joshua Kaufman (NIH/NIAMS) for support with preparation of reagents and Dennis Winkler (NIH/NIAMS) for installation and calibration of SerialEM, and the staff at Diamond Light Source (Didcot, UK) beamlines I02 and I24 and European Synchrotron Radiation Facility (Grenoble, France) beamline ED23-EH2 for support in data collection. This work was supported in part by the Intramural Research Programs of the National Institute for Arthritis and Musculoskeletal and Skin Diseases, the NIH Intramural AIDS Targeted Antiviral Program, and the NIH-Oxford Scholars Program. D.I.S. is supported by the UK Medical Research Council (G100099) and J.M.G. by SPINE2COMPLEXES (LSHGST-2006-031220). The Wellcome Trust is acknowledged for providing administrative support (Grant 075491/Z/09). NR 56 TC 1 Z9 1 U1 1 U2 1 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0969-2126 EI 1878-4186 J9 STRUCTURE JI Structure PD JUL 6 PY 2016 VL 24 IS 7 BP 1068 EP 1080 DI 10.1016/j.str.2016.04.015 PG 13 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA DV9EU UT WOS:000383243800006 PM 27265851 ER PT J AU Zacharchenko, T Qian, XL Goult, BT Jethwa, D Almeida, TB Ballestrem, C Critchley, DR Lowy, DR Barsukov, IL AF Zacharchenko, Thomas Qian, Xiaolan Goult, Benjamin T. Jethwa, Devina Almeida, Teresa B. Ballestrem, Christoph Critchley, David R. Lowy, Douglas R. Barsukov, Igor L. TI LD Motif Recognition by Talin: Structure of the Talin-DLC1 Complex SO STRUCTURE LA English DT Article ID FOCAL ADHESION KINASE; VINCULIN-BINDING-SITE; CELL-MIGRATION; ACTIVATION; DOMAIN; ROD; RECRUITMENT; ACTIN; RIAM; FAK AB Cell migration requires coordination between integrin-mediated cell adhesion to the extracellular matrix and force applied to adhesion sites. Talin plays a key role in coupling integrin receptors to the actomyosin contractile machinery, while deleted in liver cancer 1 (DLC1) is a Rho GAP that binds talin and regulates Rho, and therefore actomyosin contractility. We show that the LD motif of DLC1 forms a helix that binds to the four-helix bundle of the talin R8 domain in a canonical triple-helix arrangement. We demonstrate that the same R8 surface interacts with the paxillin LD1 and LD2 motifs. We identify key charged residues that stabilize the R8 interactions with LD motifs and demonstrate their importance in vitro and in cells. Our results suggest a network of competitive interactions in adhesion complexes that involve LD motifs, and identify mutations that can be used to analyze the biological roles of specific protein-protein interactions in cell migration. C1 [Zacharchenko, Thomas; Almeida, Teresa B.; Barsukov, Igor L.] Univ Liverpool, Inst Integrat Biol, BioSci Bldg,Crown St, Liverpool L69 7ZB, Merseyside, England. [Qian, Xiaolan; Lowy, Douglas R.] NCI, Cellular Oncol Lab, NIH, Bethesda, MD 20892 USA. [Goult, Benjamin T.] Univ Kent, Sch Biosci, Canterbury CT2 7NJ, Kent, England. [Jethwa, Devina; Ballestrem, Christoph] Univ Manchester, Wellcome Trust Ctr Cell Matrix Res, Oxford Rd, Manchester M13 9PT, Lancs, England. [Critchley, David R.] Univ Leicester, Dept Biochem, Lancaster Rd, Leicester LE1 9HN, Leics, England. RP Barsukov, IL (reprint author), Univ Liverpool, Inst Integrat Biol, BioSci Bldg,Crown St, Liverpool L69 7ZB, Merseyside, England. EM igb2@liv.ac.uk OI Goult, Ben/0000-0002-3438-2807 FU Biotechnology and Biological Sciences Research Council (BBSRC) DTP fellowship; BBSRC [BB/N007336/1]; Wellcome Trust [088785/Z/09/Z]; BBSRC DTP studentship FX T.Z. was supported by the Biotechnology and Biological Sciences Research Council (BBSRC) DTP fellowship. B.T.G is funded by BBSRC (BB/N007336/1). The C.B. laboratory is part of the Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, which is supported by core funding from the Wellcome Trust (grant number 088785/Z/09/Z). D.J. is supported by a BBSRC DTP studentship. We thank the staff of the Bioimaging facility at the University of Manchester for help with imaging. The X-ray data were collected at the Diamond Light Source under Liverpool BAG allocation. NR 34 TC 0 Z9 0 U1 5 U2 6 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0969-2126 EI 1878-4186 J9 STRUCTURE JI Structure PD JUL 6 PY 2016 VL 24 IS 7 BP 1130 EP 1141 DI 10.1016/j.str.2016.04.016 PG 12 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA DV9EU UT WOS:000383243800011 PM 27265849 ER PT J AU Takahashi, YK Langdon, AJ Niv, Y Schoenbaum, G AF Takahashi, Yuji K. Langdon, Angela J. Niv, Yael Schoenbaum, Geoffrey TI Temporal Specificity of Reward Prediction Errors Signaled by Putative Dopamine Neurons in Rat VTA Depends on Ventral Striatum SO NEURON LA English DT Article ID TEGMENTAL AREA; NUCLEUS-ACCUMBENS; ORBITOFRONTAL CORTEX; DIFFERENCE MODELS; DORSAL STRIATUM; BASAL GANGLIA; SIZED REWARDS; TIME; REPRESENTATION; HIPPOCAMPUS AB Dopamine neurons signal reward prediction errors. This requires accurate reward predictions. It has been suggested that the ventral striatum provides these predictions. Here we tested this hypothesis by recording from putative dopamine neurons in the VTA of rats performing a task in which prediction errors were induced by shifting reward timing or number. In controls, the neurons exhibited error signals in response to both manipulations. However, dopamine neurons in rats with ipsilateral ventral striatal lesions exhibited errors only to changes in number and failed to respond to changes in timing of reward. These results, supported by computational modeling, indicate that predictions about the temporal specificity and the number of expected reward are dissociable and that dopaminergic prediction-error signals rely on the ventral striatum for the former but not the latter. C1 [Takahashi, Yuji K.; Schoenbaum, Geoffrey] NIDA, Intramural Res Program, Baltimore, MD 21224 USA. [Langdon, Angela J.; Niv, Yael] Princeton Univ, Dept Psychol, Princeton, NJ 08544 USA. [Langdon, Angela J.; Niv, Yael] Princeton Univ, Inst Neurosci, Princeton, NJ 08544 USA. [Schoenbaum, Geoffrey] Univ Maryland, Sch Med, Dept Anat & Neurobiol, Baltimore, MD 21201 USA. [Schoenbaum, Geoffrey] Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA. [Schoenbaum, Geoffrey] Johns Hopkins Univ, Solomon H Snyder Dept Neurosci, Baltimore, MD 21287 USA. RP Takahashi, YK; Schoenbaum, G (reprint author), NIDA, Intramural Res Program, Baltimore, MD 21224 USA.; Schoenbaum, G (reprint author), Univ Maryland, Sch Med, Dept Anat & Neurobiol, Baltimore, MD 21201 USA.; Schoenbaum, G (reprint author), Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA.; Schoenbaum, G (reprint author), Johns Hopkins Univ, Solomon H Snyder Dept Neurosci, Baltimore, MD 21287 USA. EM yuji.takahashi@nih.gov; geoffrey.schoenbaum@nih.gov FU NIDA; Human Frontier Science Program Organization; NIMH [R01MH098861] FX This work was supported by funding from NIDA (to Y.K.T. and G.S.), the Human Frontier Science Program Organization (to A.J.L.), and NIMH grant R01MH098861 (to Y.N.). The opinions expressed in this article are the authors' own and do not reflect the view of the NIH, the Department of Health and Human Services, or the United States government. The authors would like to acknowledge Nathaniel Daw for helpful suggestions regarding the semi-Markov model of the task. NR 56 TC 8 Z9 8 U1 4 U2 5 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0896-6273 EI 1097-4199 J9 NEURON JI Neuron PD JUL 6 PY 2016 VL 91 IS 1 BP 182 EP 193 DI 10.1016/j.neuron.2016.05.015 PG 12 WC Neurosciences SC Neurosciences & Neurology GA DU7KY UT WOS:000382394300021 PM 27292535 ER PT J AU Goossens, ME Isa, F Brinkman, M Mak, D Reulen, R Wesselius, A Benhamou, S Bosetti, C Bueno-de-Mesquita, B Carta, A Allam, MF Golka, K Grant, EJ Jiang, XJ Johnson, KC Karagas, MR Kellen, E La Vecchia, C Lu, CM Marshall, J Moysich, K Pohlabeln, H Porru, S Steineck, G Stern, MC Tang, L Taylor, JA van den Brandt, P Villeneuve, PJ Wakai, K Weiderpass, E White, E Wolk, A Zhang, ZF Buntinx, F Zeegers, MP AF Goossens, Maria E. Isa, Fatima Brinkman, Maree Mak, David Reulen, Raoul Wesselius, Anke Benhamou, Simone Bosetti, Cristina Bueno-de-Mesquita, Bas Carta, Angela Allam, Md Farouk Golka, Klaus Grant, Eric J. Jiang, Xuejuan Johnson, Kenneth C. Karagas, Margaret R. Kellen, Eliane La Vecchia, Carlo Lu, Chih-Ming Marshall, James Moysich, Kirsten Pohlabeln, Hermann Porru, Stefano Steineck, Gunnar Stern, Marianne C. Tang, Li Taylor, Jack A. van den Brandt, Piet Villeneuve, Paul J. Wakai, Kenji Weiderpass, Elisabete White, Emily Wolk, Alicja Zhang, Zuo-Feng Buntinx, Frank Zeegers, Maurice P. TI International pooled study on diet and bladder cancer: the bladder cancer, epidemiology and nutritional determinants (BLEND) study: design and baseline characteristics SO ARCHIVES OF PUBLIC HEALTH LA English DT Article DE Bladder cancer; Diet; Risk; Pooled analysis ID RISK-FACTORS; FLUID INTAKE; CONSUMPTION; RATIONALE; SMOKING; COHORT; POLYMORPHISMS; VITAMINS; SYSTEM; FRUIT AB Background: In 2012, more than 400,000 urinary bladder cancer cases occurred worldwide, making it the 7th most common type of cancer. Although many previous studies focused on the relationship between diet and bladder cancer, the evidence related to specific food items or nutrients that could be involved in the development of bladder cancer remains inconclusive. Dietary components can either be, or be activated into, potential carcinogens through metabolism, or act to prevent carcinogen damage. Methods/design: The BLadder cancer, Epidemiology and Nutritional Determinants (BLEND) study was set up with the purpose of collecting individual patient data from observational studies on diet and bladder cancer. In total, data from 11,261 bladder cancer cases and 675,532 non-cases from 18 case-control and 6 cohort studies from all over the world were included with the aim to investigate the association between individual food items, nutrients and dietary patterns and risk of developing bladder cancer. Discussion: The substantial number of cases included in this study will enable us to provide evidence with large statistical power, for dietary recommendations on the prevention of bladder cancer. C1 [Goossens, Maria E.; Buntinx, Frank] Katholieke Univ Leuven, ACHG KU Leuven, Dept Gen Practice, Kapucijnenvoer 33,Blok J,Bus 7001, B-3000 Leuven, Belgium. [Isa, Fatima; Mak, David; Reulen, Raoul] Univ Birmingham, Dept Publ Hlth Epidemiol & Biostat, Birmingham, W Midlands, England. [Brinkman, Maree] Canc Council Victoria, Melbourne, Vic, Australia. [Wesselius, Anke; Zeegers, Maurice P.] Maastricht Univ, NUTRIM Sch Nutr & Translat Res Metab, Maastricht, Netherlands. [Benhamou, Simone] Fondat Jean Dausset CEPH, Variabilite Genet & Malad Humaines, INSERM U946, Paris, France. [Bosetti, Cristina] Ist Ric Farmacol Mario Negri, Lab Gen Epidemiol, Milan, Italy. [Bueno-de-Mesquita, Bas] Natl Inst Publ Hlth & Environm RIVM, DCD, Bilthoven, Netherlands. [Bueno-de-Mesquita, Bas] Univ Med Ctr, Gastroenterol & Hepatol, Utrecht, Netherlands. [Bueno-de-Mesquita, Bas] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Epidemiol & Biostat, London, England. [Bueno-de-Mesquita, Bas] Univ Malaya, Social & Prevent Med, Fac Med, Kuala Lumpur, Malaysia. [Carta, Angela; Porru, Stefano] Univ Brescia, Sect Publ Hlth & Human Sci, Dept Med & Surg Specialties Radiol Sci & Publ Hlt, Brescia, Italy. [Allam, Md Farouk] Univ Cordoba, Dept Prevent Med & Publ Hlth, Fac Med, Cordoba, Spain. [Golka, Klaus] TU Dortmund, Leibniz Res Ctr Working Environm & Human Factors, Dortmund, Germany. [Grant, Eric J.] Dept Epidemiol Radiat Effects Res Fdn, Hiroshima, Japan. [Jiang, Xuejuan; Stern, Marianne C.] Univ So Calif, Dept Prevent Med, Los Angeles, CA 90089 USA. [Johnson, Kenneth C.] Univ Ottawa, Dept Epidemiol & Community Med, Ottawa, ON, Canada. [Karagas, Margaret R.] Geisel Sch Med Dartmouth, Dept Epidemiol, Hanover, NH USA. [Kellen, Eliane] Leuven Univ Ctr Canc Prevent LUCK, Leuven, Belgium. [La Vecchia, Carlo] Univ Milan, Dept Clin Med & Community Hlth, Milan, Italy. [Lu, Chih-Ming] Buddhist Dalin Tzu Chi Gen Hosp, Dept Urol, Dalin Township 62247, Chiayi County, Taiwan. [Marshall, James; Moysich, Kirsten; Tang, Li] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA. [Pohlabeln, Hermann] Leibniz Inst Prevent Res & Epidemiol BIPS, Bremen, Germany. [Steineck, Gunnar] Karolinska Hosp, Div Clin Canc Epidemiol, Dept Oncol & Pathol, Stockholm, Sweden. [Taylor, Jack A.] Natl Inst Environm Hlth Sci, Epidemiol Branch, NIH, Res Triangle Pk, NC USA. [Taylor, Jack A.] Natl Inst Environm Hlth Sci, Epigenet & Stem Cell Biol Lab, NIH, Res Triangle Pk, NC USA. [van den Brandt, Piet] Maastricht Univ, Dept Epidemiol, Sch Oncol & Dev Biol, Med Ctr, Maastricht, Netherlands. [van den Brandt, Piet] Maastricht Univ, Med Ctr, Sch Publ Hlth & Primary Care, Maastricht, Netherlands. [Villeneuve, Paul J.] Populat Studies Div Hlth Canada, Ottawa, ON, Canada. [Wakai, Kenji] Nagoya Univ, Dept Prevent Med, Grad Sch Med, Nagoya, Aichi, Japan. [Weiderpass, Elisabete] Karolinska Inst, Dept Med Epidemiol & Biostat, Med Epidemiol, Stockholm, Sweden. [Weiderpass, Elisabete] Canc Registry Norway, Inst Populat Based Canc Res, Res, Oslo, Norway. [Weiderpass, Elisabete] Folkhalsan Res Ctr, Genet Epidemiol Grp, Helsinki, Finland. [Weiderpass, Elisabete] Univ Tromso, Arctic Univ Norway, Dept Community Med, Tromso, Norway. [White, Emily] Fred Hutchinson Canc Res Ctr, 1124 Columbia St, Seattle, WA 98104 USA. [Wolk, Alicja] Karolinska Inst, Inst Environm Med, Div Nutr Epidemiol, Stockholm, Sweden. [Zhang, Zuo-Feng] Univ Calif Los Angeles, Fielding Sch Publ Hlth, UCLA Ctr Environm Genom, Dept Epidemiol, Los Angeles, CA USA. [Buntinx, Frank; Zeegers, Maurice P.] Maastricht Univ, CAPHRI Sch Publ Hlth & Primary Care, Maastricht, Netherlands. [Zeegers, Maurice P.] Univ Birmingham, Sch Canc Sci, Birmingham, W Midlands, England. RP Goossens, ME (reprint author), Katholieke Univ Leuven, ACHG KU Leuven, Dept Gen Practice, Kapucijnenvoer 33,Blok J,Bus 7001, B-3000 Leuven, Belgium. EM mieke.goossens@med.kuleuven.be RI Benhamou, Simone/K-6554-2015; Weiderpass, Elisabete/M-4029-2016; OI Weiderpass, Elisabete/0000-0003-2237-0128; La Vecchia, Carlo/0000-0003-1441-897X; taylor, jack/0000-0001-5303-6398 FU NCI NIH HHS [P30 CA016056, R01 CA057494, R01 CA074846, T32 CA009142, U01 CA096116]; NIEHS NIH HHS [P42 ES007373] NR 40 TC 0 Z9 0 U1 1 U2 2 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 0778-7367 EI 2049-3258 J9 ARCH PUBLIC HEALTH JI Arch. Public Health PD JUL 6 PY 2016 VL 74 AR 30 DI 10.1186/s13690-016-0140-1 PG 10 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA DS0ZI UT WOS:000380325100001 PM 27386115 ER PT J AU Thomas, A Pommier, Y AF Thomas, Anish Pommier, Yves TI Small cell lung cancer: Time to revisit DNA-damaging chemotherapy SO SCIENCE TRANSLATIONAL MEDICINE LA English DT Editorial Material ID ATR INHIBITORS; STRESS AB Rational use of DNA-damaging chemotherapy, with new combinations to heighten DNA replication stress, could improve outcomes in small cell lung cancer. C1 [Thomas, Anish] NCI, Thorac & Gastrointestinal Oncol Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [Pommier, Yves] NCI, Dev Therapeut Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [Pommier, Yves] NCI, Mol Pharmacol Lab, Ctr Canc Res, Bethesda, MD 20892 USA. RP Thomas, A (reprint author), NCI, Thorac & Gastrointestinal Oncol Branch, Ctr Canc Res, Bethesda, MD 20892 USA.; Pommier, Y (reprint author), NCI, Dev Therapeut Branch, Ctr Canc Res, Bethesda, MD 20892 USA.; Pommier, Y (reprint author), NCI, Mol Pharmacol Lab, Ctr Canc Res, Bethesda, MD 20892 USA. EM anish.thomas@mail.nih.gov; pommier@nih.gov NR 10 TC 1 Z9 1 U1 0 U2 1 PU AMER ASSOC ADVANCEMENT SCIENCE PI WASHINGTON PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA SN 1946-6234 EI 1946-6242 J9 SCI TRANSL MED JI Sci. Transl. Med. PD JUL 6 PY 2016 VL 8 IS 346 AR 346fs12 DI 10.1126/scitranslmed.aaf6282 PG 3 WC Cell Biology; Medicine, Research & Experimental SC Cell Biology; Research & Experimental Medicine GA DR6RP UT WOS:000380029300001 PM 27384345 ER PT J AU Beachler, DC Yanik, EL Martin, BI Pfeiffer, RM Mirza, SK Deyo, RA Engels, EA AF Beachler, Daniel C. Yanik, Elizabeth L. Martin, Brook I. Pfeiffer, Ruth M. Mirza, Sohail K. Deyo, Richard A. Engels, Eric A. TI Bone Morphogenetic Protein Use and Cancer Risk Among Patients Undergoing Lumbar Arthrodesis SO JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME LA English DT Article ID SPINAL ARTHRODESIS; FUSION; SURVEILLANCE; VALIDATION; SURGERY; DESIGN; COHORT; CLAIMS AB Background: Recombinant bone morphogenetic proteins (BMPs) are growth factors utilized in lumbar arthrodeses. Limited data from randomized trials suggest that BMP may increase cancer risk. We sought to evaluate cancer risk and mortality following the use of BMP in lumbar arthrodesis. Methods: Within the linked Surveillance, Epidemiology, and End Results (SEER) Program-Medicare cohort, we conducted a case-cohort study of 7,278 individuals who were >= 65 years of age and had undergone a lumbar arthrodesis from 2004 to 2011. Of these patients, 3,627 were individuals in a 5% random subcohort of Medicare enrollees in SEER areas including 191 who developed cancer, and there were 3,651 individuals outside the subcohort who developed cancer. Weighted Cox proportional-hazards regression was used to estimate hazard ratios (HRs) and 95% confidence intervals (95% CIs) for cancer on the basis of exposure to BMP. Results: In the SEER-Medicare subcohort, 30.7% of individuals who underwent a lumbar arthrodesis received BMP. BMP was not associated with overall cancer risk in univariate analyses (HR, 0.92 [95% CI, 0.82 to 1.02]) or after adjustment for demographic characteristics, comorbidities, hospital size, history of cancer, and calendar year (adjusted HR, 0.94 [95% CI, 0.84 to 1.05]). Individual cancer types were also not significantly elevated (p > 0.05 for all) in BMP users compared with nonusers. In addition, BMP use was not associated with a new cancer in people who had cancer prior to undergoing lumbar arthrodesis (adjusted HR, 1.04 [95% CI, 0.71 to 1.52]) or withmortality after a cancer diagnosis (adjusted HR, 1.05 [95% CI, 0.93 to 1.19]). Conclusions: In a large population of elderly U.S. adults undergoing lumbar arthrodesis, BMP use was not associated with cancer risk or mortality. C1 [Beachler, Daniel C.; Yanik, Elizabeth L.; Martin, Brook I.; Pfeiffer, Ruth M.; Mirza, Sohail K.; Deyo, Richard A.; Engels, Eric A.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Martin, Brook I.; Mirza, Sohail K.] Dartmouth Geisel Sch Med, Dartmouth Inst Hlth Policy & Clin Practice, Hanover, NH USA. [Mirza, Sohail K.] Dartmouth Geisel Sch Med, Dept Orthopaed Surg, Hanover, NH USA. [Deyo, Richard A.] Oregon Hlth & Sci Univ, Dept Family Med, Portland, OR 97201 USA. [Deyo, Richard A.] Oregon Hlth & Sci Univ, Dept Med, Portland, OR 97201 USA. [Deyo, Richard A.] Oregon Hlth & Sci Univ, Dept Publ Hlth & Preventat Med, Portland, OR 97201 USA. [Deyo, Richard A.] Oregon Hlth & Sci Univ, Oregon Inst Occupat Hlth Sci, Portland, OR 97201 USA. RP Beachler, DC (reprint author), NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. EM Daniel.beachler@nih.gov FU National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health and the Agency for Healthcare Research and Quality FX One author of this study (B.I.M.) received, through his institution, a grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases; funds were used to pay for salary support. One author of this study (S.K.M.) received grants from the National Institutes of Health and the Agency for Healthcare Research and Quality; funds were used to pay for salary support. One author of this study (R.A.D.) received, through his institution, a gift from Kaiser Permanente; funds were used to pay for an endowed chair that supports part of his salary. NR 28 TC 4 Z9 4 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0021-9355 EI 1535-1386 J9 J BONE JOINT SURG AM JI J. Bone Joint Surg.-Am. Vol. PD JUL 6 PY 2016 VL 98 IS 13 BP 1064 EP 1072 DI 10.2106/JBJS.15.01106 PG 9 WC Orthopedics; Surgery SC Orthopedics; Surgery GA DR5ID UT WOS:000379935800005 PM 27385679 ER PT J AU Markunas, CA Wilcox, AJ Xu, ZL Joubert, BR Harlid, S Panduri, V Haberg, SE Nystad, W London, SJ Sandler, DP Lie, RT Wade, PA Taylor, JA AF Markunas, Christina A. Wilcox, Allen J. Xu, Zongli Joubert, Bonnie R. Harlid, Sophia Panduri, Vijayalakshmi Haberg, Siri E. Nystad, Wenche London, Stephanie J. Sandler, Dale P. Lie, Rolv T. Wade, Paul A. Taylor, Jack A. TI Maternal Age at Delivery Is Associated with an Epigenetic Signature in Both Newborns and Adults SO PLOS ONE LA English DT Article ID DNA METHYLATION CHANGES; DEVELOPMENTAL ORIGINS; NORWEGIAN MOTHER; CHILD COHORT; PREGNANCY; EXPRESSION; SMOKING; RISK; PERSPECTIVE; POPULATION AB Offspring of older mothers are at increased risk of adverse birth outcomes, childhood cancers, type 1 diabetes, and neurodevelopmental disorders. The underlying biologic mechanisms for most of these associations remain obscure. One possibility is that maternal aging may produce lasting changes in the epigenetic features of a child's DNA. To test this, we explored the association of mothers' age at pregnancy with methylation in her offspring, using blood samples from 890 Norwegian newborns and measuring DNA methylation at more than 450,000 CpG sites across the genome. We examined replication of a maternal-age finding in an independent group of 1062 Norwegian newborns, and then in 200 US middle-aged women. Older maternal age was significantly associated with reduced methylation at four adjacent CpGs near the 2nd exon of KLHL35 in newborns (p-values ranging from 3x10(-6) to 8x10(-7)). These associations were replicated in the independent set of newborns, and replicated again in women 40 to 60 years after their birth. This study provides the first example of parental age permanently affecting the epigenetic profile of offspring. While the specific functions of the affected gene are unknown, this finding opens the possibility that a mother's age at pregnancy could affect her child's health through epigenetic mechanisms. C1 [Markunas, Christina A.; Wilcox, Allen J.; Xu, Zongli; Joubert, Bonnie R.; London, Stephanie J.; Sandler, Dale P.; Taylor, Jack A.] NIEHS, Epidemiol Branch, NIH, Res Triangle Pk, NC 27709 USA. [Harlid, Sophia; Panduri, Vijayalakshmi; Wade, Paul A.; Taylor, Jack A.] NIEHS, Epigenet & Stem Cell Biol Lab, NIH, Res Triangle Pk, NC 27709 USA. [Haberg, Siri E.; Nystad, Wenche; Lie, Rolv T.] Norwegian Inst Publ Hlth, Oslo, Norway. [Lie, Rolv T.] Univ Bergen, Dept Global Publ Hlth & Primary Care, Bergen, Norway. [Markunas, Christina A.] RTI Int, Res Triangle Pk, NC USA. RP Taylor, JA (reprint author), NIEHS, Epidemiol Branch, NIH, Res Triangle Pk, NC 27709 USA.; Taylor, JA (reprint author), NIEHS, Epigenet & Stem Cell Biol Lab, NIH, Res Triangle Pk, NC 27709 USA. EM taylor@niehs.nih.gov OI Harlid, Sophia/0000-0001-8540-6891; xu, zongli/0000-0002-9034-8902; Wilcox, Allen/0000-0002-3376-1311; taylor, jack/0000-0001-5303-6398; Sandler, Dale/0000-0002-6776-0018; London, Stephanie/0000-0003-4911-5290 FU Intramural Research Program of the NIH, National Institute of Environmental Health Science, Sister Study [Z01 ES044005]; Intramural Research Program of the NIH, National Institute of Environmental Health Science, MoBa [Z01-ES-49019]; Intramural Research Program of the NIH, National Institute of Environmental Health Science, Norway Facial Clefts Study; Norwegian Ministry of Health; Ministry of Education and Research; NIH/NIEHS [N01-ES-75558]; NIH/NINDS [1 UO1 NS 047537-01]; Norwegian Research Council/FUGE [151918/S10] FX This research was supported in part by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (http://www.niehs.nih.gov/, Z01 ES044005, Sister Study (DPS); Z01-ES-49019, MoBa (SJL); Norway Facial Clefts Study (AJW)). The Norwegian Mother and Child Cohort Study is supported by the Norwegian Ministry of Health and the Ministry of Education and Research (https://www.regjeringen.no/en/dep/kd/id586/), NIH/NIEHS (http://www.niehs.nih.gov/, contract no N01-ES-75558), NIH/NINDS (http://www.ninds.nih.gov/, grant no. 1 UO1 NS 047537-01), and the Norwegian Research Council/FUGE (http://www.forskningsradet.no/prognett-fuge/Home_page/1226993493114, grant no. 151918/S10 (WN)). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 34 TC 2 Z9 3 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 6 PY 2016 VL 11 IS 7 AR e0156361 DI 10.1371/journal.pone.0156361 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR3NH UT WOS:000379809400003 PM 27383059 ER PT J AU Fernando, RI Hamilton, DH Dominguez, C David, JM McCampbell, KK Palena, C AF Fernando, Romaine I. Hamilton, Duane H. Dominguez, Charli David, Justin M. McCampbell, Kristen K. Palena, Claudia TI IL-8 signaling is involved in resistance of lung carcinoma cells to erlotinib SO ONCOTARGET LA English DT Article DE erlotinib; tumor resistance; IL-8; epithelial-mesenchymal transition ID EPITHELIAL-MESENCHYMAL TRANSITION; TRANSCRIPTION FACTOR BRACHYURY; EGFR KINASE DOMAIN; ACQUIRED-RESISTANCE; TARGETED THERAPY; COLORECTAL-CARCINOMA; MONOCLONAL-ANTIBODY; MET AMPLIFICATION; CANCER; GROWTH AB A signaling pathway that is frequently deregulated in human carcinomas and has been explored as a therapeutic target involves the activation of the epidermal growth factor receptor (EGFR). Inhibition of EGFR via the small molecule inhibitors erlotinib and gefitinib commonly results in tumor resistance, even in patients with EGFR-mutant tumors that initially show substantial clinical responses. This study was designed to broaden our understanding of the molecular mechanisms of acquired resistance to erlotinib in lung cancer cells bearing wild type or mutated EGFR. We report here that generation of erlotinib-resistant lung cancer cells in vitro resulted in a phenotypic alteration reminiscent of an epithelial-mesenchymal transition (EMT) concomitant with a robust upregulation of the IL-8/IL-8R axis. Our results also demonstrate that upregulation of p38 MAPK signaling is responsible for the enhanced IL-8 secretion in the erlotinib-resistant tumor cells. Blockade of IL-8 signaling effectively reduced mesenchymal features of the resistant cells and also markedly enhanced their susceptibility to erlotinib. These results provide a rationale for the development of new therapeutic approaches involving blockade of IL-8 signaling for the management of acquired resistance to EGFR inhibition in patients with lung cancer. C1 [Fernando, Romaine I.; Hamilton, Duane H.; Dominguez, Charli; David, Justin M.; McCampbell, Kristen K.; Palena, Claudia] NCI, Lab Tumor Immunol & Biol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Palena, C (reprint author), NCI, Lab Tumor Immunol & Biol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM palenac@mail.nih.gov FU NIH Intramural Research Program, National Cancer Institute, Center for Cancer Research FX This research was supported by funds of the NIH Intramural Research Program, National Cancer Institute, Center for Cancer Research. NR 50 TC 3 Z9 3 U1 2 U2 2 PU IMPACT JOURNALS LLC PI ALBANY PA 6211 TIPTON HOUSE, STE 6, ALBANY, NY 12203 USA SN 1949-2553 J9 ONCOTARGET JI Oncotarget PD JUL 5 PY 2016 VL 7 IS 27 BP 42031 EP 42044 DI 10.18632/oncotarget.9662 PG 14 WC Oncology; Cell Biology SC Oncology; Cell Biology GA DS7DI UT WOS:000380942600084 PM 27248176 ER PT J AU Zhang, Q Doucet, M Tomlinson, RE Han, XB Quarles, LD Collins, MT Clemens, TL AF Zhang, Qian Doucet, Michele Tomlinson, Ryan E. Han, Xiaobin Quarles, L. Darryl Collins, Michael T. Clemens, Thomas L. TI The hypoxia-inducible factor-1 alpha activates ectopic production of fibroblast growth factor 23 in tumor-induced osteomalacia SO Bone Research LA English DT Article ID OF-THE-LITERATURE; RICKETS; FGF-23; FGF23 AB Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which ectopic production of fibroblast growth factor 23 (FGF23) by non-malignant mesenchymal tumors causes phosphate wasting and bone fractures. Recent studies have implicated the hypoxia-inducible factor-1 alpha (HIF-1 alpha) in other phosphate wasting disorders caused by elevated FGF23, including X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemia. Here we provide evidence that HIF-1 alpha mediates aberrant FGF23 in TIO by transcriptionally activating its promoter. Immunohistochemical studies in phosphaturic mesenchymal tumors resected from patients with documented TIO showed that HIF-1 alpha and FGF23 were co-localized in spindle-shaped cells adjacent to blood vessels. Cultured tumor tissue produced high levels of intact FGF23 and demonstrated increased expression of HIF-1 alpha protein. Transfection of MC3T3-E1 and Saos-2 cells with a HIF-1 alpha expression construct induced the activity of a FGF23 reporter construct. Prior treatment of tumor organ cultures with HIF-1 alpha inhibitors decreased HIF-1 alpha and FGF23 protein accumulation and inhibited HIF-1 alpha-induced luciferase reporter activity in transfected cells. Chromatin immunoprecipitation assays confirmed binding to a HIF-1 alpha consensus sequence within the proximal FGF23 promoter, which was eliminated by treatment with a HIF-1 alpha inhibitor. These results show for the first time that HIF-1 alpha is a direct transcriptional activator of FGF23 and suggest that upregulation of HIF-1 alpha activity in TIO contributes to the aberrant FGF23 production in these patients. C1 [Zhang, Qian; Doucet, Michele; Tomlinson, Ryan E.; Clemens, Thomas L.] Johns Hopkins Univ, Dept Orthopaed Surg, Baltimore, MD USA. [Han, Xiaobin; Quarles, L. Darryl] Univ Tennessee, Hlth Sci Ctr, Dept Med, Memphis, TN USA. [Collins, Michael T.] NIH, Skeletal Clin Studies Unit, Craniofacial & Skeletal Dis Branch, Bethesda, MD USA. [Clemens, Thomas L.] Baltimore Vet Adm Med Ctr, Baltimore, MD USA. RP Clemens, TL (reprint author), Johns Hopkins Univ, Dept Orthopaed Surg, Baltimore, MD USA.; Clemens, TL (reprint author), Baltimore Vet Adm Med Ctr, Baltimore, MD USA. EM tclemen5@jhmi.edu FU NIH [AR049510, AR045955]; Department of Veterans Affairs FX This work was supported by NIH grants AR049510 (TLC) and AR045955 (LDQ). TLC is the recipient of a Senior Career Scientist Award from the Department of Veterans Affairs. We thank Dr Edward McCarthy for advice on the histopathology of the tumor specimens. NR 18 TC 1 Z9 1 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2095-4700 EI 2095-6231 J9 BONE RES JI Bone Res. PD JUL 5 PY 2016 VL 4 AR 16011 DI 10.1038/boneres.2016.11 PG 6 WC Cell & Tissue Engineering SC Cell Biology GA DS5CM UT WOS:000380798200001 PM 27468359 ER PT J AU Ambrosis, N Boyd, CD O'Toole, GA Fernandez, J Sisti, F AF Ambrosis, Nicolas Boyd, Chelsea D. O'Toole, George A. Fernandez, Julieta Sisti, Federico TI Homologs of the LapD-LapG c-di-GMP Effector System Control Biofilm Formation by Bordetella bronchiseptica SO PLOS ONE LA English DT Article ID PSEUDOMONAS-FLUORESCENS PF0-1; ADENYLATE-CYCLASE TOXIN; RESPIRATORY-TRACT; MECHANISM; INFECTION; VIRULENCE; PERTUSSIS; MOTILITY; PROTEASE AB Biofilm formation is important for infection by many pathogens. Bordetella bronchiseptica causes respiratory tract infections in mammals and forms biofilm structures in nasal epithelium of infected mice. We previously demonstrated that cyclic di-GMP is involved in biofilm formation in B. bronchiseptica. In the present work, based on their previously reported function in Pseudomonas fluorescens, we identified three genes in the B. bronchiseptica genome likely involved in c-di-GMP-dependent biofilm formation: brtA, lapD and lapG. Genetic analysis confirmed a role for BrtA, LapD and LapG in biofilm formation using microtiter plate assays, as well as scanning electron and fluorescent microscopy to analyze the phenotypes of mutants lacking these proteins. In vitro and in vivo studies showed that the protease LapG of B. bronchiseptica cleaves the N-terminal domain of BrtA, as well as the LapA protein of P. fluorescens, indicating functional conservation between these species. Furthermore, while BrtA and LapG appear to have little or no impact on colonization in a mouse model of infection, a B. bronchiseptica strain lacking the LapG protease has a significantly higher rate of inducing a severe disease outcome compared to the wild type. These findings support a role for c-di-GMP acting through BrtA/LapD/LapG to modulate biofilm formation, as well as impact pathogenesis, by B. bronchiseptica C1 [Ambrosis, Nicolas; Fernandez, Julieta; Sisti, Federico] Univ Nacl La Plata, Fac Ciencias Exactas, Dept Ciencias Biol, IBBM,CCT,CONICET La Plata, La Plata, Buenos Aires, Argentina. [Boyd, Chelsea D.; O'Toole, George A.] Geisel Sch Med Dartmouth, Dept Microbiol & Immunol, Hanover, NH USA. [Boyd, Chelsea D.] NIAID, Div Extramural Act, Sci Review Program, Rockville, MD USA. RP Fernandez, J; Sisti, F (reprint author), Univ Nacl La Plata, Fac Ciencias Exactas, Dept Ciencias Biol, IBBM,CCT,CONICET La Plata, La Plata, Buenos Aires, Argentina. EM julietafernandez3@gmail.com; federico.sisti@gmail.com OI Sisti, Federico/0000-0001-7548-0422 FU NIH [R01-AI097307]; NSF [MCB-9984521]; CONICET; PICT [2013-0092]; PIP [0092, 0486]; CONICET doctoral fellowship FX This work was supported by NIH grant R01-AI097307 and NSF grant MCB-9984521 to GAO, and International Cooperation grants (2012 and 2013) from CONICET to FS and JF, PICT 2013-0092, PIP No 0092 and PIP No 0486 to FS and JF. NA was supported by CONICET doctoral fellowship. NR 26 TC 1 Z9 1 U1 0 U2 3 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 5 PY 2016 VL 11 IS 7 AR e0158752 DI 10.1371/journal.pone.0158752 PG 16 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR3JE UT WOS:000379798700044 PM 27380521 ER PT J AU Du, MM Jiao, S Bien, SA Gala, M Abecasis, G Bezieau, S Brenner, H Butterbach, K Caan, BJ Carlson, CS Casey, G Chang-Claude, J Conti, DV Curtis, KR Duggan, D Gallinger, S Haile, RW Harrison, TA Hayes, RB Hoffmeister, M Hopper, JL Hudson, TJ Jenkins, MA Kury, S Le Marchand, L Leal, SM Newcomb, PA Nickerson, DA Potter, JD Schoen, RE Schumacher, FR Seminara, D Slattery, ML Hsu, L Chan, AT White, E Berndt, SI Peters, U AF Du, Mengmeng Jiao, Shuo Bien, Stephanie A. Gala, Manish Abecasis, Goncalo Bezieau, Stephane Brenner, Hermann Butterbach, Katja Caan, Bette J. Carlson, Christopher S. Casey, Graham Chang-Claude, Jenny Conti, David V. Curtis, Keith R. Duggan, David Gallinger, Steven Haile, Robert W. Harrison, Tabitha A. Hayes, Richard B. Hoffmeister, Michael Hopper, John L. Hudson, Thomas J. Jenkins, Mark A. Kury, Sebastien Le Marchand, Loic Leal, Suzanne M. Newcomb, Polly A. Nickerson, Deborah A. Potter, John D. Schoen, Robert E. Schumacher, Fredrick R. Seminara, Daniela Slattery, Martha L. Hsu, Li Chan, Andrew T. White, Emily Berndt, Sonja I. Peters, Ulrike TI Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants SO PLOS ONE LA English DT Article ID GENOME-WIDE ASSOCIATION; CANCER SUSCEPTIBILITY LOCI; PROSTATE-CANCER; GENOTYPE IMPUTATION; CHROMOSOME 8Q24; COMPLEX TRAITS; SNP RS6983267; TARGET GENES; METAANALYSIS; EXPRESSION AB Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs). We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33). We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s). C1 [Du, Mengmeng] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA. [Du, Mengmeng; Jiao, Shuo; Bien, Stephanie A.; Carlson, Christopher S.; Curtis, Keith R.; Harrison, Tabitha A.; Newcomb, Polly A.; Hsu, Li; White, Emily; Peters, Ulrike] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA. [Bien, Stephanie A.; Newcomb, Polly A.; Potter, John D.; White, Emily; Peters, Ulrike] Univ Washington, Sch Publ Hlth, Seattle, WA 98195 USA. [Gala, Manish; Chan, Andrew T.] Massachusetts Gen Hosp, Div Gastroenterol, Boston, MA 02114 USA. [Gala, Manish; Chan, Andrew T.] Harvard Med Sch, Boston, MA USA. [Abecasis, Goncalo] Univ Michigan, Sch Publ Hlth, Dept Biostat, Ann Arbor, MI 48109 USA. [Bezieau, Stephane; Kury, Sebastien] CHU Nantes, Serv Genet Med, Nantes, France. [Brenner, Hermann; Butterbach, Katja; Hoffmeister, Michael] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany. [Brenner, Hermann] German Canc Consortium DKTK, Heidelberg, Germany. [Caan, Bette J.] Kaiser Permanente Med Care Program Northern Calif, Div Res, Oakland, CA USA. [Casey, Graham; Conti, David V.; Haile, Robert W.; Schumacher, Fredrick R.] Univ Southern Calif, Keck Sch Med, Los Angeles, CA USA. [Chang-Claude, Jenny] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany. [Duggan, David] Translat Genom Res Inst, Phoenix, AZ USA. [Gallinger, Steven] Mt Sinai Hosp, Dept Surg, Toronto, ON, Canada. [Hayes, Richard B.] NYU, Sch Med, Dept Populat Hlth, Div Epidemiol, New York, NY USA. [Hopper, John L.; Jenkins, Mark A.] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Melbourne, Vic, Australia. [Hudson, Thomas J.] Ontario Inst Canc Res, Toronto, ON, Canada. [Hudson, Thomas J.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada. [Hudson, Thomas J.] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada. [Le Marchand, Loic] Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA. [Leal, Suzanne M.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Nickerson, Deborah A.] Univ Washington, Genome Sci, Seattle, WA 98195 USA. [Potter, John D.] Massey Univ, Ctr Publ Hlth Res, Wellington, New Zealand. [Schoen, Robert E.] Univ Pittsburgh, Med Ctr, Dept Med & Epidemiol, Pittsburgh, PA USA. [Seminara, Daniela] NCI, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. [Slattery, Martha L.] Univ Utah, Hlth Sci Ctr, Dept Internal Med, Salt Lake City, UT USA. [Chan, Andrew T.] Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA. [Berndt, Sonja I.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. RP Du, MM (reprint author), Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA.; Du, MM; Peters, U (reprint author), Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA.; Peters, U (reprint author), Univ Washington, Sch Publ Hlth, Seattle, WA 98195 USA. EM dumeng@mskcc.org; upeters@fhcrc.org RI Jenkins, Mark/P-7803-2015; Gallinger, Steven/E-4575-2013; Brenner, Hermann/B-4627-2017; OI Jenkins, Mark/0000-0002-8964-6160; Brenner, Hermann/0000-0002-6129-1572; Hayes, Richard/0000-0002-0918-661X; Bien, Stephanie/0000-0002-8713-4583; Hoffmeister, Michael/0000-0002-8307-3197 FU GECCO: National Cancer Institute; GECCO: National Institutes of Health; GECCO: U.S. Department of Health and Human Services [U01 CA137088, R01 CA059045, U01 CA164930]; National Cancer Institute [R25 CA94880, P30 CA008748]; Regional Council of Pays de la Loire; Groupement des Entreprises Francaises dans la Lutte contre le Cancer (GEFLUC); Association Anne de Bretagne Genetique; Ligue Regionale Contre le Cancer (LRCC); National Cancer Institute, National Institutes of Health [U01 CA122839]; National Institutes of Health: Australasian Colorectal Cancer Family Registry [U01 CA097735]; National Institutes of Health: Ontario Registry for Studies of Familial Colorectal Cancer [U01 CA074783]; National Institutes of Health: Seattle Colorectal Cancer Family Registry [U01 CA074794]; DACHS: German Research Council (Deutsche Forschungsgemeinschaft) [BR 1704/6-1, BR 1704/6-3, BR 1704/6-4, CH 117/1-1]; COLO2&3: National Institutes of Health [R01 CA60987]; CCFR: National Institutes of Health (RFA) [CA-95-011]; German Federal Ministry of Education and Research [01KH0404, 01ER0814]; DALS: National Institutes of Health [R01 CA48998]; NHS; PHS: HPFS by National Institutes of Health [P01 CA 055075, UM1 CA167552, R01 137178, P50 CA 127003]; NHS by the National Institutes of Health [P50 CA 127003, R01 CA137178, P01 CA 087969]; National Institutes of Health [CA42182]; Damon Runyon Clinical investigator Award; MEC: National Institutes of Health [R37 CA54281, P01 CA033619, R01 CA63464]; OFCCR: National Institutes of Health [U01 CA074783]; GL2 grant from Ontario Research Fund; Canadian Institutes of Health Research; Cancer Risk Evaluation (CaRE) Program grant from Canadian Cancer Society Research Institute; Senior Investigator Awards from Ontario Institute for Cancer Research; Ontario Ministry of Research and Innovation; PLCO: Intramural Research Program of the Division of Cancer Epidemiology and Genetics; Division of Cancer Prevention, National Cancer Institute, NIH, DHHS; National Institutes of Health (NIH), Genes, Environment and Health Initiative (GEI) [Z01 CP 010200]; NIH [U01 HG004446]; NIH GEI [U01 HG 004438]; PMH-CCFR: National Institutes of Health [R01 CA076366]; VITAL: National Institutes of Health [K05 CA154337]; National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C]; CORECT: National Cancer Institute, National Institutes of Health under RFA [CA-09-002 (U19 CA148107)]; [K24 DK098311] FX This work was supported by the following: GECCO: National Cancer Institute, National Institutes of Health, U.S. Department of Health and Human Services (U01 CA137088; R01 CA059045; U01 CA164930), M.D. is supported by grants R25 CA94880 and P30 CA008748 from the National Cancer Institute. ASTERISK: Hospital Clinical Research Program (PHRC) and supported by the Regional Council of Pays de la Loire, the Groupement des Entreprises Francaises dans la Lutte contre le Cancer (GEFLUC), the Association Anne de Bretagne Genetique and the Ligue Regionale Contre le Cancer (LRCC). COLO2&3: National Institutes of Health (R01 CA60987). CCFR: National Institutes of Health (RFA # CA-95-011) and through cooperative agreements with members of the Colon Cancer Family Registry and P.I.s. This genome wide scan was supported by the National Cancer Institute, National Institutes of Health by U01 CA122839. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the CFRs, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the CFR. The following Colon CFR centers contributed data to this manuscript and were supported by National Institutes of Health: Australasian Colorectal Cancer Family Registry (U01 CA097735), Ontario Registry for Studies of Familial Colorectal Cancer (U01 CA074783), and Seattle Colorectal Cancer Family Registry (U01 CA074794). DACHS: German Research Council (Deutsche Forschungsgemeinschaft, BR 1704/6-1, BR 1704/6-3, BR 1704/6-4 and CH 117/1-1), and the German Federal Ministry of Education and Research (01KH0404 and 01ER0814). DALS: National Institutes of Health (R01 CA48998 to M.L.S.); HPFS, NHS, and PHS: HPFS by the National Institutes of Health (P01 CA 055075, UM1 CA167552, R01 137178, and P50 CA 127003), NHS by the National Institutes of Health (R01 CA137178, P01 CA 087969 and P50 CA 127003,) and PHS by the National Institutes of Health (CA42182). A.T.C. is also supported by a Damon Runyon Clinical investigator Award and K24 DK098311. MEC: National Institutes of Health (R37 CA54281, P01 CA033619, and R01 CA63464). OFCCR: National Institutes of Health, through funding allocated to the Ontario Registry for Studies of Familial Colorectal Cancer (U01 CA074783); see CCFR section above. As subset of ARCTIC, OFCCR is supported by a GL2 grant from the Ontario Research Fund, the Canadian Institutes of Health Research, and the Cancer Risk Evaluation (CaRE) Program grant from the Canadian Cancer Society Research Institute. T.J.H. is a recipient of Senior Investigator Awards from the Ontario Institute for Cancer Research, through generous support from the Ontario Ministry of Research and Innovation. PLCO: Intramural Research Program of the Division of Cancer Epidemiology and Genetics and supported by contracts from the Division of Cancer Prevention, National Cancer Institute, NIH, DHHS. Additionally, a subset of control samples were genotyped as part of the Cancer Genetic Markers of Susceptibility (CGEMS) Prostate Cancer GWAS (Yeager, M et al. Nat Genet 2007 May;39(5):645-9), Colon CGEMS pancreatic cancer scan (PanScan) (Amundadottir, L et al. Nat Genet. 2009 Sep;41(9):986-90 and Petersen, GM et al Nat Genet. 2010 Mar;42(3):2248), and the Lung Cancer and Smoking study. The prostate and PanScan study datasets were accessed with appropriate approval through the dbGaP online resource (http://cgems.cancer.gov/data/) accession numbers phs000207v.1p1 and phs000206.v3.; p2, respectively, and the lung datasets were accessed from the dbGaP website (http://www.ncbi.nlm.nih.gov/gap) through accession number phs000093v2.p2. Funding for the Lung Cancer and Smoking study was provided by National Institutes of Health (NIH), Genes, Environment and Health Initiative (GEI) Z01 CP 010200, NIH U01 HG004446, and NIH GEI U01 HG 004438. For the lung study, the GENEVA Coordinating Center provided assistance with genotype cleaning and general study coordination, and the Johns Hopkins University Center for Inherited Disease Research conducted genotyping. PMH-CCFR: National Institutes of Health (R01 CA076366 to P.A.N.). VITAL: National Institutes of Health (K05 CA154337). WHI: The WHI program is funded by the National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C. CORECT: National Cancer Institute, National Institutes of Health under RFA #CA-09-002 (U19 CA148107). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in CORECT, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or CORECT. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 75 TC 1 Z9 1 U1 3 U2 8 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 5 PY 2016 VL 11 IS 7 AR e0157521 DI 10.1371/journal.pone.0157521 PG 18 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR3JE UT WOS:000379798700007 PM 27379672 ER PT J AU Wilson, LE D'Aloisio, AA Sandler, DP Taylor, JA AF Wilson, Lauren E. D'Aloisio, Aimee A. Sandler, Dale P. Taylor, Jack A. TI Long-term use of calcium channel blocking drugs and breast cancer risk in a prospective cohort of US and Puerto Rican women SO BREAST CANCER RESEARCH LA English DT Article DE Calcium channel blockers; Antihypertensive drugs; Breast cancer risk ID ANTIHYPERTENSIVE MEDICATION USE; CELL-LINES; IN-VITRO; BLOCKERS; APOPTOSIS; VERAPAMIL; HYPERTENSION; ASSOCIATION; MORTALITY; CARCINOMA AB Background: In a recent case-control study, long-term use of calcium channel blocking drugs was associated with a greater-than-twofold increased breast cancer risk. If prospectively collected data confirm that calcium channel blocker use increases breast cancer risk, this would have major implications for hypertension treatment. The objective of this study was to determine whether women using calcium channel blockers for 10 years or more were at increased risk of developing breast cancer compared with women not using calcium channel blockers. Methods: The Sister Study is a prospective volunteer cohort study of women from the USA and Puerto Rico designed to evaluate environmental and genetic risk factors for breast cancer. Beginning in 2003, women between the ages of 35 and 74 were recruited. They were eligible to participate if they had a sister with breast cancer but had not been diagnosed with breast cancer themselves. In total, 50,884 women enrolled in the cohort between 2003 and 2009; 50,757 women with relevant baseline data and available follow-up data are included in this study. The exposure of interest is current use of calcium channel blocking drugs and the reported duration of use at entry into the cohort. Secondary exposures of interest were the duration and frequency of use for all other subclasses of antihypertensive drugs. Our main outcome is a self-reported diagnosis of breast cancer during the study follow-up period. With patient permission, self-reported diagnoses were confirmed using medical records. Results: Results showed 15,817 participants were currently using an antihypertensive drug, and 3316 women were currently using a calcium channel blocker at study baseline; 1965 women reported a breast cancer diagnosis during study follow-up. Using Cox proportional hazards modeling, we found no increased risk of breast cancer among women who had been using calcium channel blockers for 10 years or more compared with never users of calcium channel blockers (HR 0.88, 95 % CI 0.58-1.33). Conclusions: We saw no evidence of increased risk of breast cancer from 10 years or more of current calcium channel blocker use. Our results do not support avoiding calcium channel blocking drugs in order to reduce breast cancer risk. C1 [Wilson, Lauren E.; D'Aloisio, Aimee A.; Sandler, Dale P.; Taylor, Jack A.] NIEHS, Epidemiol Branch, NIH, Res Triangle Pk, NC 27709 USA. [D'Aloisio, Aimee A.] Social & Sci Syst Inc, Durham, NC 27703 USA. RP Taylor, JA (reprint author), NIEHS, Epidemiol Branch, NIH, Res Triangle Pk, NC 27709 USA. EM taylor@niehs.nih.gov OI taylor, jack/0000-0001-5303-6398; Sandler, Dale/0000-0002-6776-0018; Wilson, Lauren/0000-0002-5953-2293 FU Intramural Research Program of the National Institute of Environmental Health Sciences, NIH [Z01 ES044005, Z01 ES044032, Z01 ES049033] FX This research was supported by the Intramural Research Program of the National Institute of Environmental Health Sciences, NIH (Z01 ES044005, Z01 ES044032, and Z01 ES049033), which provided funding for design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, and approval of the manuscript. NR 33 TC 3 Z9 3 U1 1 U2 6 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1465-542X EI 1465-5411 J9 BREAST CANCER RES JI Breast Cancer Res. PD JUL 5 PY 2016 VL 18 AR 61 DI 10.1186/s13058-016-0720-6 PG 8 WC Oncology SC Oncology GA DQ6KN UT WOS:000379313800001 PM 27378129 ER PT J AU Pauli, R Bowring, A Reynolds, R Chen, G Nichols, TE Maumet, C AF Pauli, Ruth Bowring, Alexander Reynolds, Richard Chen, Gang Nichols, Thomas E. Maumet, Camille TI Exploring fMRI Results Space: 31 Variants of an fMRI Analysis in AFNI, FSL, and SPM SO FRONTIERS IN NEUROINFORMATICS LA English DT Article DE data sharing; functional MRI; provenance; fMRI analysis; neuroimaging ID PROJECT C1 [Pauli, Ruth; Bowring, Alexander; Nichols, Thomas E.; Maumet, Camille] Univ Warwick, Warwick Mfg Grp, Coventry, W Midlands, England. [Reynolds, Richard; Chen, Gang] NIMH, Sci & Stat Comp Core, NIH, Bethesda, MD 20892 USA. [Nichols, Thomas E.] Univ Warwick, Dept Stat, Coventry, W Midlands, England. RP Pauli, R (reprint author), Univ Warwick, Warwick Mfg Grp, Coventry, W Midlands, England. EM r.pauli@warwick.ac.uk FU Git Large File Storage (Git-LFS); Welcome Trust; BBSRC; NIMH intramural Research Programs of the NIH/HHS, USA [ZICMH002888]; NINDS intramural Research Programs of the NIH/HHS, USA [ZICMH002888] FX The INCF provided funding for the use of Git Large File Storage (Git-LFS). AB, CM, and TN were supported by the Welcome Trust. RP was supported by the BBSRC-funded Midlands Integrative Biosciences Training Partnership (MIBTP), and RR and GC were supported by the NIMH and NINDS intramural Research Programs (ZICMH002888) of the NIH/HHS, USA. NR 14 TC 1 Z9 1 U1 4 U2 4 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1662-5196 J9 FRONT NEUROINFORM JI Front. Neuroinformatics PD JUL 5 PY 2016 VL 10 AR 24 DI 10.3389/fninf.2016.00024 PG 6 WC Mathematical & Computational Biology; Neurosciences SC Mathematical & Computational Biology; Neurosciences & Neurology GA DQ3FU UT WOS:000379089000001 PM 27458367 ER PT J AU Hripcsak, G Ryan, PB Duke, JD Shah, NH Park, RW Huser, V Suchard, MA Schuemie, MJ DeFalco, FJ Perotte, A Banda, JM Reich, CG Schilling, LM Matheny, ME Meeker, D Pratt, N Madigan, D AF Hripcsak, George Ryan, Patrick B. Duke, Jon D. Shah, Nigam H. Park, Rae Woong Huser, Vojtech Suchard, Marc A. Schuemie, Martijn J. DeFalco, Frank J. Perotte, Adler Banda, Juan M. Reich, Christian G. Schilling, Lisa M. Matheny, Michael E. Meeker, Daniella Pratt, Nicole Madigan, David TI Characterizing treatment pathways at scale using the OHDSI network SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE observational research; data network; treatment pathways ID CONTROLLED CASE SERIES; CLINICAL PATHWAYS; CONTROLLED-TRIALS; TASK-FORCE; HEALTH; MEDICATION; OUTCOMES; QUALITY; TIME; RECOMMENDATIONS AB Observational research promises to complement experimental research by providing large, diverse populations that would be infeasible for an experiment. Observational research can test its own clinical hypotheses, and observational studies also can contribute to the design of experiments and inform the generalizability of experimental research. Understanding the diversity of populations and the variance in care is one component. In this study, the Observational Health Data Sciences and Informatics (OHDSI) collaboration created an international data network with 11 data sources from four countries, including electronic health records and administrative claims data on 250 million patients. All data were mapped to common data standards, patient privacy was maintained by using a distributed model, and results were aggregated centrally. Treatment pathways were elucidated for type 2 diabetes mellitus, hypertension, and depression. The pathways revealed that the world is moving toward more consistent therapy over time across diseases and across locations, but significant heterogeneity remains among sources, pointing to challenges in generalizing clinical trial results. Diabetes favored a single first-line medication, metformin, to a much greater extent than hypertension or depression. About 10% of diabetes and depression patients and almost 25% of hypertension patients followed a treatment pathway that was unique within the cohort. Aside from factors such as sample size and underlying population (academic medical center versus general population), electronic health records data and administrative claims data revealed similar results. Large-scale international observational research is feasible. C1 [Hripcsak, George; Perotte, Adler] Columbia Univ, Med Ctr, Dept Biomed Informat, New York, NY 10032 USA. [Hripcsak, George] NewYork Presbyterian Hosp, Med Informat Serv, New York, NY 10032 USA. [Hripcsak, George; Ryan, Patrick B.; Duke, Jon D.; Shah, Nigam H.; Park, Rae Woong; Huser, Vojtech; Suchard, Marc A.; Schuemie, Martijn J.; DeFalco, Frank J.; Perotte, Adler; Banda, Juan M.; Reich, Christian G.; Schilling, Lisa M.; Matheny, Michael E.; Meeker, Daniella; Pratt, Nicole; Madigan, David] Observat Hlth Data Sci & Informat, New York, NY 10032 USA. [Ryan, Patrick B.; Schuemie, Martijn J.; DeFalco, Frank J.] Janssen Res & Dev, Epidemiol Analyt, Titusville, NJ 08560 USA. [Duke, Jon D.] Regenstrief Inst Hlth Care, Ctr Biomed Informat, Indianapolis, IN 46205 USA. [Shah, Nigam H.; Banda, Juan M.] Stanford Univ, Ctr Biomed Informat Res, Stanford, CA 94305 USA. [Park, Rae Woong] Ajou Univ, Sch Med, Dept Biomed Informat, Suwon 443380, South Korea. [Huser, Vojtech] NIH, Lister Hill Natl Ctr Biomed Commun, Natl Lib Med, Bethesda, MD 20894 USA. [Suchard, Marc A.] Univ Calif Los Angeles, Dept Biomath, Los Angeles, CA 90095 USA. [Suchard, Marc A.] Univ Calif Los Angeles, Dept Biostat, Los Angeles, CA 90095 USA. [Suchard, Marc A.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA. [Reich, Christian G.] IMS Hlth, Real World Evidence Solut, Burlington, MA 01809 USA. [Schilling, Lisa M.] Univ Colorado, Sch Med, Dept Med, Aurora, CO 80045 USA. [Matheny, Michael E.] Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN 37212 USA. [Matheny, Michael E.] VA Tennessee Valley Healthcare Syst, Geriatr Res Educ & Clin Ctr, Nashville, TN 37212 USA. [Meeker, Daniella] Univ So Calif, Dept Prevent Med, Los Angeles, CA 90089 USA. [Meeker, Daniella] Univ So Calif, Dept Pediat, Los Angeles, CA 90089 USA. [Pratt, Nicole] Univ S Australia, Div Hlth Sci, Adelaide, SA 5001, Australia. [Madigan, David] Columbia Univ, Dept Stat, New York, NY 10027 USA. RP Hripcsak, G (reprint author), Columbia Univ, Med Ctr, Dept Biomed Informat, New York, NY 10032 USA.; Hripcsak, G (reprint author), NewYork Presbyterian Hosp, Med Informat Serv, New York, NY 10032 USA.; Hripcsak, G (reprint author), Observat Hlth Data Sci & Informat, New York, NY 10032 USA. EM hripcsak@columbia.edu OI Banda, Juan/0000-0001-8499-824X FU National Library of Medicine [R01 LM006910, R01 LM011369]; National Institute of General Medical Sciences [R01 GM101430]; National Science Foundation [NSF IIS 1251151]; Smart Family Foundation; Janssen Research and Development; AstraZeneca; Takeda Pharmaceuticals International FX This work was funded in part by Grants R01 LM006910 and R01 LM011369 from the National Library of Medicine, Grant R01 GM101430 from the National Institute of General Medical Sciences, Grant NSF IIS 1251151 from the National Science Foundation, and by the Smart Family Foundation. Infrastructure to carry out the project was funded in part by Janssen Research and Development, AstraZeneca, and Takeda Pharmaceuticals International. Use of the CPRD data set was approved by the CPRD Independent Scientific Advisory Committee as protocol 15_019R. NR 39 TC 4 Z9 4 U1 0 U2 1 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD JUL 5 PY 2016 VL 113 IS 27 BP 7329 EP 7336 DI 10.1073/pnas.1510502113 PG 8 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ2GW UT WOS:000379021700036 PM 27274072 ER PT J AU Kasbekara, M Fischer, G Mott, BT Yasgar, A Hyvonen, M Boshoff, HIM Abell, C Barry, CE Thomas, CJ AF Kasbekar, Monica Fischer, Gerhard Mott, Bryan T. Yasgar, Adam Hyvonen, Marko Boshoff, Helena I. M. Abell, Chris Barry, Clifton E., III Thomas, Craig J. TI Selective small molecule inhibitor of the Mycobacterium tuberculosis fumarate hydratase reveals an allosteric regulatory site SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE allosteric regulation; selective inhibition; fumarate hydratase; Mycobacterium tuberculosis; TCA cycle ID ESCHERICHIA-COLI; MOONLIGHTING PROTEINS; METABOLISM; LIBRARIES; PARADIGM; BINDING; ENZYME; ASSAYS; GENE AB Enzymes in essential metabolic pathways are attractive targets for the treatment of bacterial diseases, but in many cases, the presence of homologous human enzymes makes them impractical candidates for drug development. Fumarate hydratase, an essential enzyme in the tricarboxylic acid (TCA) cycle, has been identified as one such potential therapeutic target in tuberculosis. We report the discovery of the first small molecule inhibitor, to our knowledge, of the Mycobacterium tuberculosis fumarate hydratase. A crystal structure at 2.0-angstrom resolution of the compound in complex with the protein establishes the existence of a previously unidentified allosteric regulatory site. This allosteric site allows for selective inhibition with respect to the homologous human enzyme. We observe a unique binding mode in which two inhibitor molecules interact within the allosteric site, driving significant conformational changes that preclude simultaneous substrate and inhibitor binding. Our results demonstrate the selective inhibition of a highly conserved metabolic enzyme that contains identical active site residues in both the host and the pathogen. C1 [Kasbekar, Monica; Mott, Bryan T.; Yasgar, Adam; Thomas, Craig J.] NIH, Natl Ctr Adv Translat Sci, Bethesda, MD 20850 USA. [Kasbekar, Monica; Abell, Chris] Univ Cambridge, Dept Chem, Cambridge CB2 1EW, England. [Fischer, Gerhard; Hyvonen, Marko] Univ Cambridge, Dept Biochem, Cambridge CB2 1GA, England. [Boshoff, Helena I. M.; Barry, Clifton E., III] NIAID, NIH, Bethesda, MD 20850 USA. RP Thomas, CJ (reprint author), NIH, Natl Ctr Adv Translat Sci, Bethesda, MD 20850 USA. EM craigt@mail.nih.gov OI Fischer, Gerhard/0000-0001-9861-1528 FU National Institutes of Health-Oxford-Cambridge Scholars Program; Washington University in St. Louis Medical Scientist Training Program; Division of Preclinical Innovation, National Center for Advancing Translational Sciences; Intramural Research Program of the National Institute of Allergy and Infectious Diseases FX We thank Dr. Christina Spry, Dr. David Garboczi, Dr. Apostolos Gittis, Dr. Paresma Patel, and Dr. Tathagata Mukherjee for helpful advice and discussions. We also thank Sam Michael, Charles Bonney, Dr. Rajarshi Guha, and Paul Shinn for help with the high-throughput screen and compound management. Some experiments were performed in the Crystallographic X-Ray Facility at the Department of Biochemistry, University of Cambridge. We thank Dr. Dimitri Chirgadze for his assistance in using these facilities. We also thank Diamond Light Source and staff for the provision of beam time at beamlines I04 and I24. M.K. is supported by the National Institutes of Health-Oxford-Cambridge Scholars Program and the Washington University in St. Louis Medical Scientist Training Program. This work was supported by the Division of Preclinical Innovation, National Center for Advancing Translational Sciences and the Intramural Research Program of the National Institute of Allergy and Infectious Diseases. NR 35 TC 3 Z9 3 U1 3 U2 8 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD JUL 5 PY 2016 VL 113 IS 27 BP 7503 EP 7508 DI 10.1073/pnas.1600630113 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ2GW UT WOS:000379021700064 PM 27325754 ER PT J AU Zhang, Y Yokoyama, S Herriges, JC Zhang, Z Young, RE Verheyden, JM Sun, X AF Zhang, Yan Yokoyama, Shigetoshi Herriges, John C. Zhang, Zhen Young, Randee E. Verheyden, Jamie M. Sun, Xin TI E3 ubiquitin ligase RFWD2 controls lung branching through protein-level regulation of ETV transcription factors SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE lung branching; RFWD2; COP1; ETV transcription factors; E3 ubiquitin ligases ID HORMONE-RELATED PROTEIN; MOUSE LUNG; NEGATIVE REGULATOR; TUMOR-SUPPRESSOR; MULTIPLE ROLES; C/EBP-ALPHA; COP1; MORPHOGENESIS; DEGRADATION; EXPRESSION AB The mammalian lung is an elaborate branching organ, and it forms following a highly stereotypical morphogenesis program. It is well established that precise control at the transcript level is a key genetic underpinning of lung branching. In comparison, little is known about how regulation at the protein level may play a role. Ring finger and WD domain 2 (RFWD2, also termed COP1) is an E3 ubiquitin ligase that modifies specific target proteins, priming their degradation via the ubiquitin proteasome system. RFWD2 is known to function in the adult in pathogenic processes such as tumorigenesis. Here, we show that prenatal inactivation of Rfwd2 gene in the lung epithelium led to a striking halt in branching morphogenesis shortly after secondary branch formation. This defect is accompanied by distalization of the lung epithelium while growth and cellular differentiation still occurred. In the mutant lung, two E26 transformation-specific (ETS) transcription factors essential for normal lung branching, ETS translocation variant 4 (ETV4) and ETV5, were up-regulated at the protein level, but not at the transcript level. Introduction of Etv loss-of-function alleles into the Rfwd2 mutant background attenuated the branching phenotype, suggesting that RFWD2 functions, at least in part, through degrading ETV proteins. Because a number of E3 ligases are known to target factors important for lung development, our findings provide a preview of protein-level regulatory network essential for lung branching morphogenesis. C1 [Zhang, Yan; Yokoyama, Shigetoshi; Herriges, John C.; Zhang, Zhen; Young, Randee E.; Verheyden, Jamie M.; Sun, Xin] Univ Wisconsin, Dept Med Genet, Lab Genet, Madison, WI 53706 USA. [Yokoyama, Shigetoshi] Natl Canc Inst, Lab Metab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Zhang, Zhen] NGM Biopharmaceut Inc, San Francisco, CA 94080 USA. RP Sun, X (reprint author), Univ Wisconsin, Dept Med Genet, Lab Genet, Madison, WI 53706 USA. EM xsun@wisc.edu RI yokoyama, shigetoshi/S-5912-2016 OI yokoyama, shigetoshi/0000-0003-4175-0548 FU American Heart Association [15POST25670070]; National Heart, Lung, and Blood Institute [RO1 HL113870, HL097134]; Wisconsin Partnership Program [2897] FX We thank members of the X.S. laboratory for constructive discussions and readings of the manuscript, Dr. Vishva M. Dixit (Genentech) for sharing the Rfwd2fl mice, and Dr. Scott Berry and Dr. David Beebe (University of Wisconsin-Madison) for guidance on immunoprecipitation experiments. This work was supported by American Heart Association Postdoctoral Fellowship 15POST25670070 (to Y.Z.) and by National Heart, Lung, and Blood Institute Grants RO1 HL113870 and HL097134 and Wisconsin Partnership Program Grant 2897 (to X.S.). NR 55 TC 0 Z9 0 U1 7 U2 10 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD JUL 5 PY 2016 VL 113 IS 27 BP 7557 EP 7562 DI 10.1073/pnas.1603310113 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ2GW UT WOS:000379021700073 PM 27335464 ER PT J AU Li, QS Sodroski, C Lowey, B Schweitzer, CJ Cha, HL Zhang, F Liang, TJ AF Li, Qisheng Sodroski, Catherine Lowey, Brianna Schweitzer, Cameron J. Cha, Helen Zhang, Fang Liang, T. Jake TI Hepatitis C virus depends on E-cadherin as an entry factor and regulates its expression in epithelial-to-mesenchymal transition SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE hepatitis C virus; viral entry; E-cadherin; tight junction; epithelial-mesenchymal transition ID B TYPE-I; PRIMARY HUMAN HEPATOCYTES; LIFE-CYCLE; HEPATOCELLULAR-CARCINOMA; SUPERINFECTION EXCLUSION; CORE-PROTEIN; CELL-CULTURE; HOST FACTORS; INFECTION; RECEPTOR AB Hepatitis C virus (HCV) enters the host cell through interactions with a cascade of cellular factors. Although significant progress has been made in understanding HCV entry, the precise mechanisms by which HCV exploits the receptor complex and host machinery to enter the cell remain unclear. This intricate process of viral entry likely depends on additional yet-to-be-defined cellular molecules. Recently, by applying integrative functional genomics approaches, we identified and interrogated distinct sets of host dependencies in the complete HCV life cycle. Viral entry assays using HCV pseudoparticles (HCVpps) of various genotypes uncovered multiple previously unappreciated host factors, including E-cadherin, that mediate HCV entry. E-cadherin silencing significantly inhibited HCV infection in Huh7.5.1 cells, HepG2/miR122/CD81 cells, and primary human hepatocytes at a postbinding entry step. Knockdown of E-cadherin, however, had no effect on HCV RNA replication or internal ribosomal entry site (IRES)-mediated translation. In addition, an E-cadherin monoclonal antibody effectively blocked HCV entry and infection in hepatocytes. Mechanistic studies demonstrated that E-cadherin is closely associated with claudin-1 (CLDN1) and occludin (OCLN) on the cell membrane. Depletion of E-cadherin drastically diminished the cell-surface distribution of these two tight junction proteins in various hepatic cell lines, indicating that E-cadherin plays an important regulatory role in CLDN1/OCLN localization on the cell surface. Furthermore, loss of E-cadherin expression in hepatocytes is associated with HCV-induced epithelial-to-mesenchymal transition (EMT), providing an important link between HCV infection and liver cancer. Our data indicate that a dynamic interplay among E-cadherin, tight junctions, and EMT exists and mediates an important function in HCV entry. C1 [Li, Qisheng; Sodroski, Catherine; Lowey, Brianna; Schweitzer, Cameron J.; Cha, Helen; Zhang, Fang; Liang, T. Jake] NIDDK, Liver Dis Branch, NIH, Bethesda, MD 20892 USA. RP Li, QS; Liang, TJ (reprint author), NIDDK, Liver Dis Branch, NIH, Bethesda, MD 20892 USA. EM liqisheng@niddk.nih.gov; jakel@bdg10.niddk.nih.gov FU Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health FX We thank Ching-Sheng Hsu and Veronique Pene for technical assistance; Francis Chisari, Charles Rice, Takaji Wakita, Francois-Loic Cosset, Michael Niepmann, Jens Bukh, Tetsuro Suzuki, and Takanobu Kato for their generosity in providing reagents; and all members of the Liver Diseases Branch for discussion and support. This work was supported by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health. NR 52 TC 3 Z9 3 U1 3 U2 9 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD JUL 5 PY 2016 VL 113 IS 27 BP 7620 EP 7625 DI 10.1073/pnas.1602701113 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ2GW UT WOS:000379021700084 PM 27298373 ER PT J AU Davoli-Ferreira, M Fonseca, DM Mota, CM Dias, MS Lima, DS da Silva, MV Quirino, GFS Zamboni, DS Silva, JS Mineo, TWP AF Davoli-Ferreira, Marcela Fonseca, Denise M. Mota, Caroline M. Dias, Murilo S. Lima-Junior, Djalma S. da Silva, Murilo V. Quirino, Gustavo F. S. Zamboni, Dario S. Silva, Joao S. Mineo, Tiago W. P. TI Nucleotide-binding oligomerization domain-containing protein 2 prompts potent inflammatory stimuli during Neospora caninum infection SO SCIENTIFIC REPORTS LA English DT Article ID TOLL-LIKE RECEPTORS; IMMUNE-RESPONSES; HOST-DEFENSE; KAPPA-B; NOD2; DISEASE; INNATE; ACTIVATION; CELLS; PEPTIDOGLYCAN AB Neospora caninum is an apicomplexan parasite responsible for major economic losses due to abortions in cattle. Innate immune responses are crucial for host resistance against the infection, however the molecules involved in parasite recognition are still poorly understood. Nod2 is a cytosolic receptor that recognizes several pathogens and its role during N. caninum infection has not yet been described. In that sense, we evaluated the role of Nod2 in host response against this parasite. We found that infection of macrophages induced increased expression of Nod2, which colocalized with the parasites' vacuoles. Nod2-deficient macrophages showed an impaired induction of pro-inflammatory cytokines, increased production of modulatory molecules, and failure to restrict parasite replication. In vivo, Nod2-knockout mice showed a reduction of MAPK phosphorylation and proinflammatory cytokines, followed by decreased inflammation in target organs and increment in parasite burden. Surprisingly, these mice were partially resistant to lethal doses of tachyzoites. In addition, these phenomena were not observed in Rip2-/- mice. In conclusion, our study indicates that Nod2-dependent responses account for N. caninum elimination. On the other hand, the inflammatory milieu induced by this innate receptor provoked pathogenesis and death in severe experimental neosporosis. C1 [Davoli-Ferreira, Marcela; Mota, Caroline M.; da Silva, Murilo V.; Mineo, Tiago W. P.] Univ Fed Uberlandia, Inst Biomed Sci, Lab Immunoparasitol Dr Mario Endsfeldz Camargo, Uberlandia, MG, Brazil. [Davoli-Ferreira, Marcela; Fonseca, Denise M.; Dias, Murilo S.; Lima-Junior, Djalma S.; Quirino, Gustavo F. S.; Silva, Joao S.] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Biochem & Immunol, Ribeirao Preto, SP, Brazil. [Fonseca, Denise M.] NIAID, Program Barrier Immun & Repair Mucosal Immunol Se, Parasit Dis Lab, NIH, Bethesda, MD 20892 USA. [Zamboni, Dario S.] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Cell Biol, Ribeirao Preto, SP, Brazil. RP Mineo, TWP (reprint author), Univ Fed Uberlandia, Inst Biomed Sci, Lab Immunoparasitol Dr Mario Endsfeldz Camargo, Uberlandia, MG, Brazil. EM tiago.mineo@ufu.br RI Mineo, Tiago/B-4153-2009; Silva, Joao/A-4484-2008; CEPID, CRID/J-2644-2015; OI Mineo, Tiago/0000-0002-2339-2743; Souza Lima Junior, Djalma/0000-0002-2092-8047; Zamboni, Dario/0000-0002-7856-7512 NR 40 TC 1 Z9 1 U1 0 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD JUL 5 PY 2016 VL 6 AR 29289 DI 10.1038/srep29289 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ6AE UT WOS:000379285600001 PM 27377650 ER PT J AU Smith, RH Hallwirth, CV Westerman, M Hetherington, NA Tseng, YS Cecchini, S Virag, T Ziegler, ML Rogozin, IB Koonin, EV Agbandje-McKenna, M Kotin, RM Alexander, IE AF Smith, Richard H. Hallwirth, Claus V. Westerman, Michael Hetherington, Nicola A. Tseng, Yu-Shan Cecchini, Sylvain Virag, Tamas Ziegler, Mona-Larissa Rogozin, Igor B. Koonin, Eugene V. Agbandje-McKenna, Mavis Kotin, Robert M. Alexander, Ian E. TI Germline viral "fossils" guide in silico Ereconstruction of a mid-Cenozoic era marsupial adeno-associated virus SO SCIENTIFIC REPORTS LA English DT Article ID MULTIPLE SEQUENCE ALIGNMENT; HUMAN GENE-THERAPY; DNA-REPLICATION; PHYLOGENETIC INFERENCE; TRANSCRIPTION FACTOR; MAMMALIAN GENOMES; CRYSTAL-STRUCTURE; BINDING-SITE; EVOLUTION; PROTEIN AB Germline endogenous viral elements (EVEs) genetically preserve viral nucleotide sequences useful to the study of viral evolution, gene mutation, and the phylogenetic relationships among host organisms. Here, we describe a lineage-specific, adeno-associated virus (AAV)-derived endogenous viral element (mAAV-EVE1) found within the germline of numerous closely related marsupial species. Molecular screening of a marsupial DNA panel indicated that mAAV-EVE1 occurs specifically within the marsupial suborder Macropodiformes (present-day kangaroos, wallabies, and related macropodoids), to the exclusion of other Diprotodontian lineages. Orthologous mAAV-EVE1 locus sequences from sixteen macropodoid species, representing a speciation history spanning an estimated 30 million years, facilitated compilation of an inferred ancestral sequence that recapitulates the genome of an ancient marsupial AAV that circulated among Australian metatherian fauna sometime during the late Eocene to early Oligocene. In silico gene reconstruction and molecular modelling indicate remarkable conservation of viral structure over a geologic timescale. Characterisation of AAV-EVE loci among disparate species affords insight into AAV evolution and, in the case of macropodoid species, may offer an additional genetic basis for assignment of phylogenetic relationships among the Macropodoidea. From an applied perspective, the identified AAV "fossils" provide novel capsid sequences for use in translational research and clinical applications. C1 [Smith, Richard H.; Cecchini, Sylvain; Virag, Tamas; Kotin, Robert M.] NHLBI, Lab Mol Virol & Gene Therapy, Bldg 10, Bethesda, MD 20892 USA. [Hallwirth, Claus V.; Hetherington, Nicola A.; Ziegler, Mona-Larissa; Alexander, Ian E.] Childrens Med Res Inst, Gene Therapy Res Unit, Westmead, NSW, Australia. [Hallwirth, Claus V.; Hetherington, Nicola A.; Ziegler, Mona-Larissa; Alexander, Ian E.] Childrens Hosp Westmead, Westmead, NSW, Australia. [Westerman, Michael] La Trobe Univ, Dept Biochem & Genet, Bundoora, Vic, Australia. [Tseng, Yu-Shan; Agbandje-McKenna, Mavis] Univ Florida, McKnight Brain Inst, Gainesville, FL USA. [Rogozin, Igor B.; Koonin, Eugene V.] NIH, Evolutionary Genom Res Grp, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA. [Alexander, Ian E.] Univ Sydney, Discipline Paediat & Child Hlth, Westmead, NSW, Australia. [Kotin, Robert M.] Voyager Therapeut, Cambridge, MA USA. [Kotin, Robert M.] Univ Massachusetts, Sch Med, Gene Therapy Ctr, Worcester, MA USA. RP Kotin, RM (reprint author), NHLBI, Lab Mol Virol & Gene Therapy, Bldg 10, Bethesda, MD 20892 USA.; Alexander, IE (reprint author), Childrens Med Res Inst, Gene Therapy Res Unit, Westmead, NSW, Australia.; Alexander, IE (reprint author), Childrens Hosp Westmead, Westmead, NSW, Australia.; Alexander, IE (reprint author), Univ Sydney, Discipline Paediat & Child Hlth, Westmead, NSW, Australia.; Kotin, RM (reprint author), Voyager Therapeut, Cambridge, MA USA.; Kotin, RM (reprint author), Univ Massachusetts, Sch Med, Gene Therapy Ctr, Worcester, MA USA. EM robert_kotin@umassmed.edu; ian.alexander@health.nsw.gov.au FU Intramural Research Program of the National Library of Medicine (National Institutes of Health, US Department of Health and Human Services); Australian Research Council [DP150101253]; NIH [R01 GM082946]; Intramural Research Program of the National Heart, Lung, and Blood Institute, of the National Institutes of Health FX We thank the San Diego Zoo Global and Mark Springer (University of California, Riverside, California, USA) for providing marsupial DNA samples. IBR and EVK were supported by the Intramural Research Program of the National Library of Medicine (National Institutes of Health, US Department of Health and Human Services). CVH and NAH are supported by a Discovery Project grant (DP150101253) from the Australian Research Council. MA-M was supported by NIH R01 GM082946. RHS, SC, TV, and RMK were supported by the Intramural Research Program of the National Heart, Lung, and Blood Institute, of the National Institutes of Health. NR 95 TC 1 Z9 1 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD JUL 5 PY 2016 VL 6 AR 28965 DI 10.1038/srep28965 PG 17 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ4QO UT WOS:000379188600001 PM 27377618 ER PT J AU Carson, SS Cox, CE Wallenstein, S Hanson, LC Danis, M Tulsky, JA Chai, E Nelson, JE AF Carson, Shannon S. Cox, Christopher E. Wallenstein, Sylvan Hanson, Laura C. Danis, Marion Tulsky, James A. Chai, Emily Nelson, Judith E. TI Effect of Palliative Care-Led Meetings for Families of Patients With Chronic Critical Illness A Randomized Clinical Trial SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID PROLONGED MECHANICAL VENTILATION; OF-LIFE CARE; COMMUNICATION-SKILLS; RESOURCE UTILIZATION; DEPRESSION SCALE; HOSPITAL ANXIETY; UNITED-STATES; ILL PATIENTS; ICU; VALIDATION AB IMPORTANCE Family caregivers of patients with chronic critical illness experience significant psychological distress. OBJECTIVE To determine whether family informational and emotional support meetings led by palliative care clinicians improve family anxiety and depression. DESIGN, SETTING, AND PARTICIPANTS A multicenter randomized clinical trial conducted from October 2010 through November 2014 in 4 medical intensive care units (ICUs). Adult patients (aged >= 21 years) requiring 7 days of mechanical ventilation were randomized and their family surrogate decision makers were enrolled in the study. Observers were blinded to group allocation for the measurement of the primary outcomes. INTERVENTIONS At least 2 structured family meetings led by palliative care specialists and provision of an informational brochure (intervention) compared with provision of an informational brochure and routine family meetings conducted by ICU teams (control). There were 130 patients with 184 family surrogate decision makers in the intervention group and 126 patients with 181 family surrogate decision makers in the control group. MAIN OUTCOMES AND MEASURES The primary outcome was Hospital Anxiety and Depression Scale symptom score (HADS; score range, 0[best] to 42[worst]; minimal clinically important difference, 1.5) obtained during 3-month follow-up interviews with the surrogate decision makers. Secondary outcomes included posttraumatic stress disorder experienced by the family and measured by the Impact of Events Scale-Revised (IES-R; total score range, 0 [best] to 88 [worst]), discussion of patient preferences, hospital length of stay, and 90-day survival. RESULTS Among 365 family surrogate decision makers (mean age, 51 years; 71% female), 312 completed the study. At 3 months, there was no significant difference in anxiety and depression symptoms between surrogate decision makers in the intervention group and the control group (adjusted mean HADS score, 12.2 vs 11.4, respectively; between-group difference, 0.8 [95% CI, -0.9 to 2.6]; P = .34). Posttraumatic stress disorder symptoms were higher in the intervention group (adjusted mean IES-R score, 25.9) compared with the control group (adjusted mean IES-R score, 21.3) (between-group difference, 4.60 [95% CI, 0.01 to 9.10]; P = .0495). There was no difference between groups regarding the discussion of patient preferences (intervention, 75%; control, 83%; odds ratio, 0.63[95% CI, 0.34 to 1.16; P = .14]). The median number of hospital days for patients in the intervention vs the control group (19 days vs 23 days, respectively; between-group difference, -4 days [95% CI, -6 to 3 days]; P = .51) and 90-day survival (hazard ratio, 0.95 [95% CI, 0.65 to 1.38], P = .96) were not significantly different. CONCLUSIONS AND RELEVANCE Among families of patients with chronic critical illness, the use of palliative care-led informational and emotional support meetings compared with usual care did not reduce anxiety or depression symptoms and may have increased posttraumatic stress disorder symptoms. These findings do not support routine or mandatory palliative care-led discussion of goals of care for all families of patients with chronic critical illness. C1 [Carson, Shannon S.; Hanson, Laura C.] Univ N Carolina, Sch Med, Chapel Hill, NC USA. [Cox, Christopher E.] Duke Univ, Med Ctr, Durham, NC USA. [Wallenstein, Sylvan; Chai, Emily] Icahn Sch Med Mt Sinai, New York, NY 10029 USA. [Danis, Marion] NIH, Bldg 10, Bethesda, MD 20892 USA. [Tulsky, James A.] Harvard Univ, Sch Med, Dana Farber Canc Inst, 44 Binney St, Boston, MA 02115 USA. [Tulsky, James A.] Harvard Univ, Sch Med, Brigham & Womens Hosp, Boston, MA USA. [Nelson, Judith E.] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA. [Nelson, Judith E.] Weill Cornell Med Coll, New York, NY USA. RP Carson, SS (reprint author), Univ N Carolina, Sch Med, Div Pulm & Crit Care Med, Marsico Lung Inst,Cecil B Sheps Ctr Hlth Serv Res, 4125 Bioinformat Bldg,CB 7020, Chapel Hill, NC 27599 USA. EM scarson@med.unc.edu FU National Institute of Nursing Research [R01-NR012413] FX This project was funded by grant R01-NR012413 from the National Institute of Nursing Research. NR 36 TC 15 Z9 16 U1 13 U2 15 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD JUL 5 PY 2016 VL 316 IS 1 BP 51 EP 62 DI 10.1001/jama.2016.8474 PG 12 WC Medicine, General & Internal SC General & Internal Medicine GA DQ2MY UT WOS:000379037600018 PM 27380343 ER PT J AU Katz, JN Minder, M Olenchock, B Price, S Goldfarb, M Washam, JB Barnett, CF Newby, LK van Diepen, S AF Katz, Jason N. Minder, Michael Olenchock, Benjamin Price, Susanna Goldfarb, Michael Washam, Jeffrey B. Barnett, Christopher F. Newby, L. Kristin van Diepen, Sean TI The Genesis, Maturation, and Future of Critical Care Cardiology SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Review DE quality of care; research; training ID ELEVATION MYOCARDIAL-INFARCTION; INTENSIVE-CARE; ILL PATIENTS; UNITED-STATES; NURSE-PRACTITIONERS; AMERICAN-COLLEGE; TEMPORAL TRENDS; CARDIAC-ARREST; SEPTIC SHOCK; TASK-FORCE AB The cardiac intensive care unit (CICU) has changed considerably over time and now serves a unique patient population with a high burden of cardiovascular and noncardiovascular critical illness. Patient complexity and technological evolutions in the CICU have catalyzed the development of critical care cardiology, a fledgling discipline that combines specialization in cardiovascular diseases with knowledge and experience in critical care medicine. Numerous uncertainties and challenges threaten to stymie the growth of this field. A multidisciplinary dialogue focused on the best care design for the CICU patient is needed as we consider alternative approaches to clinical training, staffing, and investigation in this rapidly evolving arena. (J Am Coll Cardiol 2016; 68:67-79) (C) 2016 by the American College of Cardiology Foundation. C1 [Katz, Jason N.] Univ N Carolina, Sch Med, Div Cardiol, Chapel Hill, NC USA. [Katz, Jason N.] Univ N Carolina, Sch Med, Div Pulm & Crit Care Med, Chapel Hill, NC USA. [Minder, Michael; Washam, Jeffrey B.; Newby, L. Kristin] Duke Univ, Div Cardiol, Durham, NC USA. [Olenchock, Benjamin] Brigham & Womens Hosp, Div Cardiovasc Med, 75 Francis St, Boston, MA 02115 USA. [Price, Susanna] Royal Brompton Hosp, Div Cardiol, London SW3 6LY, England. [Price, Susanna] Royal Brompton Hosp, Div Crit Care, London SW3 6LY, England. [Goldfarb, Michael] McGill Univ, Div Cardiol, Montreal, PQ, Canada. [Barnett, Christopher F.] Univ Calif San Francisco, Div Cardiol, San Francisco, CA USA. [Barnett, Christopher F.; Newby, L. Kristin] NIH, Dept Crit Care Med, Bethesda, MD 20892 USA. [Newby, L. Kristin] Duke Clin Res Inst, Durham, NC USA. [van Diepen, Sean] Univ Alberta Hosp, Div Cardiol, Edmonton, AB, Canada. [van Diepen, Sean] Univ Alberta Hosp, Div Crit Care, Edmonton, AB, Canada. RP Katz, JN (reprint author), UNC Ctr Heart & Vasc Care, 160 Dent Circle,CB 7075, Chapel Hill, NC 27599 USA. EM katzj@med.unc.edu FU Heart and Stroke Foundation; University Hospital Foundation; National Institutes of Health; Patient-Centered Outcomes Research Institute FX Dr. van Diepen has received grant support from the Heart and Stroke Foundation and the University Hospital Foundation. Dr. Newby is a consultant for BioKier, Metanomics, Merck, Roche Diagnostics, and Philips Healthcare; is a researcher for Metanomics, Sanofi, GlaxoSmithKline, and Verily (formerly Google Life Sciences); is on the data and safety monitoring board of DemeRx; is on the advisory board of MedScape/theHeart.org; has received research funding from the National Institutes of Health and the Patient-Centered Outcomes Research Institute; and has received honoraria from JACC: Basic to Translational Science and the Journal of the American Heart Association. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. NR 79 TC 1 Z9 1 U1 3 U2 4 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD JUL 5 PY 2016 VL 68 IS 1 BP 67 EP 79 DI 10.1016/j.jacc.2016.04.036 PG 13 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DP5IB UT WOS:000378528400011 PM 27364053 ER PT J AU Sakamuri, SSVP Valente, AJ Siddesha, JM Delafontaine, P Siebenlist, U Gardner, JD Bysani, C AF Sakamuri, Siva S. V. P. Valente, Anthony J. Siddesha, Jalahalli M. Delafontaine, Patrice Siebenlist, Ulrich Gardner, Jason D. Bysani, Chandrasekar TI TRAF3IP2 mediates aldosterone/salt-induced cardiac hypertrophy and fibrosis SO MOLECULAR AND CELLULAR ENDOCRINOLOGY LA English DT Article DE RAAS; Aldosterone; TRAF3IP2; CIKS; Act1; Cardiac fibrosis; Cardiac hypertrophy ID LEFT-VENTRICULAR HYPERTROPHY; ACTIVATED PROTEIN-KINASE; ANGIOTENSIN-II; HEART-FAILURE; DIASTOLIC DYSFUNCTION; MYOCARDIAL-INFARCTION; FIBROBLAST MIGRATION; OXIDATIVE STRESS; RECEPTOR; EXPRESSION AB Aberrant activation of the renin-angiotensin-aldosterone system (RAAS) contributes to adverse cardiac remodeling and eventual failure. Here we investigated whether TRAF3 Interacting Protein 2 (TRAF3IP2), a redox-sensitive cytoplasmic adaptor molecule and an upstream regulator of nuclear factor-kappa B (NF-kappa B) and activator protein-1 (AP-1), mediates aldosterone-induced cardiac hypertrophy and fibrosis. Wild type (WT) and TRAF3IP2-null mice were infused with aldosterone (0.2 mg/kg/day) for 4 weeks along with 1%NaCl in drinking water. Aldosterone/salt, but not salt alone, upregulated TRAF3IP2 expression in WT mouse hearts. Further, aldosterone elevated blood pressure to a similar extent in both WT and TRAF3IP2-null groups. However, TRAF3IP2 gene deletion attenuated aldosterone/salt-induced (i) p65 and c-Jun activation, (ii) extracellular matrix (collagen I alpha 1 and collagen III alpha 1), matrix metalloproteinase (MMP2), lysyl oxidase (LOX), inflammatory cytokine (IL-6 and IL-18), chemokine (CXCL1 and CXCL2), and adhesion molecule (ICAM1) mRNA expression in hearts, (iii) IL-6, IL-18, and MMP2 protein levels, (iv) systemic IL-6 and IL-18 levels, and (iv) cardiac hypertrophy and fibrosis. These results indicate that TRAF3IP2 is a critical signaling intermediate in aldosterone/salt-induced myocardial hypertrophy and fibrosis, and thus a potential therapeutic target in hypertensive heart disease. (C) 2016 Elsevier Ireland Ltd. All rights reserved. C1 [Sakamuri, Siva S. V. P.; Siddesha, Jalahalli M.; Delafontaine, Patrice; Bysani, Chandrasekar] Tulane Univ, Sch Med, Inst Heart & Vasc, New Orleans, LA 70112 USA. [Valente, Anthony J.] Univ Texas Hlth Sci Ctr San Antonio, Med, San Antonio, TX 78229 USA. [Siebenlist, Ulrich] NIAID, Lab Mol Immunol, NIH, Bethesda, MD 20892 USA. [Gardner, Jason D.] Louisiana State Univ, Hlth Sci Ctr, Physiol, New Orleans, LA 70112 USA. [Sakamuri, Siva S. V. P.] Univ Alberta, Dept Physiol, Edmonton, AB T6G 2S2, Canada. [Siddesha, Jalahalli M.] Univ Vermont, Lab Pathol & Med, Burlington, VT 05405 USA. [Delafontaine, Patrice; Bysani, Chandrasekar] Univ Missouri, Sch Med, Dept Med, Columbia, MO 65212 USA. [Bysani, Chandrasekar] Harry S Truman Mem Vet Hosp, Res Serv, Columbia, MO 65212 USA. RP Bysani, C (reprint author), Harry S Truman Mem Vet Hosp, Res Serv, 800 Hosp Dr, Columbia, MO 65201 USA. EM chandrasekarb@health.missouri.edu OI Delafontaine, Patrice/0000-0003-3744-3617 FU Department of Veterans Affairs; VA Office of Research and Development Biomedical Laboratory Research and Development Service [I01-BX002255]; NIH/NHLBI [HL-86787]; NHLBI [HL-70241, HL-80682]; NIH/NIAID FX BC is a recipient of the Department of Veterans Affairs Research Career Scientist award and is supported by VA Office of Research and Development Biomedical Laboratory Research and Development Service Award I01-BX002255 and the NIH/NHLBI grant HL-86787. PD is supported by NHLBI grants HL-70241 and HL-80682. US is supported by the Intramural Research Program of the NIH/NIAID. The contents of this report do not represent the views of the Department of Veterans Affairs or the United States government. NR 40 TC 1 Z9 1 U1 0 U2 4 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0303-7207 J9 MOL CELL ENDOCRINOL JI Mol. Cell. Endocrinol. PD JUL 5 PY 2016 VL 429 IS C BP 84 EP 92 DI 10.1016/j.mce.2016.03.038 PG 9 WC Cell Biology; Endocrinology & Metabolism SC Cell Biology; Endocrinology & Metabolism GA DN1CI UT WOS:000376803500009 PM 27040306 ER PT J AU Zhou, B Yu, PP Lin, MY Sun, T Chen, YM Sheng, ZH AF Zhou, Bing Yu, Panpan Lin, Mei-Yao Sun, Tao Chen, Yanmin Sheng, Zu-Hang TI Facilitation of axon regeneration by enhancing mitochondrial transport and rescuing energy deficits SO JOURNAL OF CELL BIOLOGY LA English DT Article ID RETINAL GANGLION-CELLS; SPINAL-CORD-INJURY; WALLERIAN DEGENERATION; NERVE REGENERATION; CORTICAL-NEURONS; GROWTH; GUIDANCE; SURVIVAL; PROTEIN; WLD(S) AB Although neuronal regeneration is a highly energy-demanding process, axonal mitochondria! transport progressively declines with maturation. Mature neurons typically fail to regenerate after injury, thus raising a fundamental question as to whether mitochondrial transport is necessary to meet enhanced metabolic requirements during regeneration. Here, we reveal that reduced mitochondrial motility and energy deficits in injured axons are intrinsic mechanisms controlling regrowth in mature neurons. Axotomy induces acute mitochondria! depolarization and ATP depletion in injured axons. Thus, mature neuron-associated increases in mitochondria-anchoring protein syntaphilin (SNPH) and decreases in mitochondrial transport cause local energy deficits. Strikingly, enhancing mitochondria! transport via genetic manipulation facilitates regenerative capacity by replenishing healthy mitochondria in injured axons, thereby rescuing energy deficits. An in vivo sciatic nerve crush study further shows that enhanced mitochondrial transport in snph knockout mice accelerates axon regeneration. Understanding deficits in mitochondria! trafficking and energy supply in injured axons of mature neurons benefits development of new strategies to stimulate axon regeneration. C1 [Zhou, Bing; Lin, Mei-Yao; Sun, Tao; Chen, Yanmin; Sheng, Zu-Hang] NINDS, Synapt Funct Sect, Porter Neurosci Res Ctr, NIH, Bethesda, MD 20892 USA. [Yu, Panpan] Jinan Univ, Guangdong Hong Kong Macau Inst CNS Regenerat, Joint Int Res Lab CNS Regenerat, Minist Educ, Guangzhou 510632, Guangdong, Peoples R China. RP Sheng, ZH (reprint author), NINDS, Synapt Funct Sect, Porter Neurosci Res Ctr, NIH, Bethesda, MD 20892 USA. EM shengz@ninds.nih.gov FU NIH [ZIA NS003029, ZIA NS002946]; Intramural Research Program of NINDS FX The work was supported by the Intramural Research Program of NINDS and NIH ZIA NS003029 and ZIA NS002946 (to Z.-H. Sheng). NR 65 TC 8 Z9 8 U1 10 U2 14 PU ROCKEFELLER UNIV PRESS PI NEW YORK PA 950 THIRD AVE, 2ND FLR, NEW YORK, NY 10022 USA SN 0021-9525 EI 1540-8140 J9 J CELL BIOL JI J. Cell Biol. PD JUL 4 PY 2016 VL 214 IS 1 BP 103 EP 119 DI 10.1083/jcb.201605101 PG 17 WC Cell Biology SC Cell Biology GA DQ5ZJ UT WOS:000379283500012 PM 27268498 ER PT J AU Shao, W Shan, JG Kearney, MF Wu, XL Maldarelli, F Mellors, JW Luke, B Coffin, JM Hughes, SH AF Shao, Wei Shan, Jigui Kearney, Mary F. Wu, Xiaolin Maldarelli, Frank Mellors, John W. Luke, Brian Coffin, John M. Hughes, Stephen H. TI Retrovirus Integration Database (RID): a public database for retroviral insertion sites into host genomes SO RETROVIROLOGY LA English DT Article DE Retrovirus; HIV; Integration site; Database; Integration site assay; ISA; Expanded clones ID HIV-1 INTEGRATION; GENES; CELLS; DNA; VIRUS; ENHANCERS; SELECTION; SEQUENCE; THERAPY; TARGETS AB The NCI Retrovirus Integration Database is a MySql-based relational database created for storing and retrieving comprehensive information about retroviral integration sites, primarily, but not exclusively, HIV-1. The database is accessible to the public for submission or extraction of data originating from experiments aimed at collecting information related to retroviral integration sites including: the site of integration into the host genome, the virus family and subtype, the origin of the sample, gene exons/introns associated with integration, and proviral orientation. Information about the references from which the data were collected is also stored in the database. Tools are built into the website that can be used to map the integration sites to UCSC genome browser, to plot the integration site patterns on a chromosome, and to display provirus LTRs in their inserted genome sequence. The website is robust, user friendly, and allows users to query the database and analyze the data dynamically. C1 [Shao, Wei; Shan, Jigui; Luke, Brian] FNLCR, Leidos Biomed Res Inc, Adv Biomed Comp Ctr, Frederick, MD USA. [Kearney, Mary F.; Maldarelli, Frank; Hughes, Stephen H.] NCI, HIV Dynam & Replicat Program, Frederick, MD 21701 USA. [Wu, Xiaolin] Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Frederick, MD USA. [Mellors, John W.] Univ Pittsburgh, Div Infect Dis, Pittsburgh, PA USA. [Coffin, John M.] Tufts Univ, Dept Mol Biol & Microbiol, Boston, MA 02111 USA. RP Shao, W (reprint author), FNLCR, Leidos Biomed Res Inc, Adv Biomed Comp Ctr, Frederick, MD USA. EM shaow@mail.nih.gov FU NCI CCR; Office of AIDS Research, NIH; NCI [HHSN261200800001E] FX We acknowledge the funding sources for this study from NCI CCR, the Office of AIDS Research, NIH, and NCI Contract No. HHSN261200800001E. NR 20 TC 1 Z9 1 U1 3 U2 3 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1742-4690 J9 RETROVIROLOGY JI Retrovirology PD JUL 4 PY 2016 VL 13 AR 47 DI 10.1186/s12977-016-0277-6 PG 9 WC Virology SC Virology GA DQ5TL UT WOS:000379267800001 PM 27377064 ER PT J AU Louis, JM Roche, J AF Louis, John M. Roche, Julien TI Evolution under Drug Pressure Remodels the Folding Free-Energy Landscape of Mature HIV-1 Protease SO JOURNAL OF MOLECULAR BIOLOGY LA English DT Article DE HIV protease; drug resistance; protein folding landscape; high-pressure NMR; calorimetry ID CLINICAL INHIBITORS; RESISTANT MUTANT; NMR-SPECTROSCOPY; MUTATIONS; DYNAMICS; SIMULATIONS; STABILITY; VARIANTS; PROTEINS; MONOMER AB Using high-pressure NMR spectroscopy and differential scanning calorimetry, we investigate the folding landscape of the mature HIV-1 protease homodimer. The cooperativity of unfolding was measured in the absence or presence of a symmetric active site inhibitor for the optimized wild type protease (PR), its inactive variant PRD25N, and an extremely multidrug-resistant mutant, PR20. The individual fit of the pressure denaturation profiles gives rise to first order, Delta G(NMR), and second order, Delta V-NMR (the derivative of Delta G(NMR) with pressure); apparent thermodynamic parameters for each amide proton considered. Heterogeneity in the apparent Delta V-NMR values reflects departure from an ideal cooperative unfolding transition. The narrow to broad distribution of Delta V-NMR spanning the extremes from inhibitor-free PR20(D25N) to PR-DMP323 complex, and distinctively for PRD25N-DMP323 complex, indicated large variations in folding cooperativity. Consistent with this data, the shape of thermal unfolding transitions varies from asymmetric for PR to nearly symmetric for PR20, as dimer-inhibitor ternary complexes. Lack of structural cooperativity was observed between regions located close to the active site, including the hinge and tip of the glycine-rich flaps, and the rest of the protein. These results strongly suggest that inhibitor binding drastically decreases the cooperativity of unfolding by trapping the closed flap conformation in a deep energy minimum. To evade this conformational trap, PR20 evolves exhibiting a smoother folding landscape with nearly an ideal two-state (cooperative) unfolding transition. This study highlights the malleability of retroviral protease folding pathways by illustrating how the selection of mutations under drug pressure remodels the free-energy landscape as a primary mechanism. Published by Elsevier Ltd. C1 [Louis, John M.; Roche, Julien] NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. [Roche, Julien] Iowa State Univ, Roy J Carver Dept Biochem Biophys & Mol Biol, Ames, IA 50011 USA. RP Louis, JM; Roche, J (reprint author), NIDDK, LCP, NIH, Bldg 5,Room B1-27, Bethesda, MD 20892 USA. EM johnl@niddk.nih.gov; julien.roche@nih.gov FU Intramural Research Program of the NIDDK, National Institutes of Health; Intramural AIDS-Targeted Program of the Office of the Director, NIH FX We thank Hoi Sung Chung and Jane M. Sayer for discussions, Annie Aniana for technical assistance, and Ad Bax for critical review of the work and support. This research was supported by the Intramural Research Program of the NIDDK, National Institutes of Health, and the Intramural AIDS-Targeted Program of the Office of the Director, NIH. Clinical protease inhibitor daruvanir was obtained through the NIH AIDS Research and Reference Reagent Program, Division of AIDS, NIAID, NIH. We acknowledge the use of the NIDDK Advanced Mass Spectrometry Core Facility. NR 48 TC 2 Z9 2 U1 5 U2 21 PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD PI LONDON PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND SN 0022-2836 EI 1089-8638 J9 J MOL BIOL JI J. Mol. Biol. PD JUL 3 PY 2016 VL 428 IS 13 BP 2780 EP 2792 DI 10.1016/j.jmb.2016.05.005 PG 13 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1JY UT WOS:000378958500009 PM 27170547 ER PT J AU Farmer, C Golden, C Thurm, A AF Farmer, Cristan Golden, Christine Thurm, Audrey TI Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders SO CHILD NEUROPSYCHOLOGY LA English DT Article DE IQ; Mullen Scales of Early Learning; Cognitive testing; DAS-II; Developmental quotient; Autism ID AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITIES; WISC-IV; INTELLIGENCE; PRESCHOOL; LEVEL; LIMITATIONS; DIAGNOSIS; STABILITY AB Estimates of intelligence in young children with neurodevelopmental disorders are critical for making diagnoses, in characterizing symptoms of disorders, and in predicting future outcomes. The limitations of standardized testing for children with developmental delay or cognitive impairment are well known: Tests do not exist that provide developmentally appropriate material along with norms that extend to the lower reaches of ability. Two commonly used and interchanged instruments are the Mullen Scales of Early Learning (MSEL), a test of developmental level, and the Differential Ability Scales, second edition (DAS-II), a more traditional cognitive test. We evaluated the correspondence of contemporaneous MSEL and the DAS-II scores in a mixed sample of children aged 2-10years with autism spectrum disorder (ASD), non-ASD developmental delays, and typically developing children across the full spectrum of cognitive ability. Consistent with published data on the original DAS and the MSEL, scores on the DAS-II and MSEL were highly correlated. However, curve estimation revealed large mean differences that varied as a function of the child's cognitive ability level. We conclude that interchanging MSEL and DAS-II scores without regard to the discrepancy in scores may produce misleading results in both cross-sectional and longitudinal studies of children with and without ASD, and, thus, this practice should be implemented with caution. C1 [Farmer, Cristan; Golden, Christine; Thurm, Audrey] NIH, Pediat & Dev Neurosci Branch, Bldg 10, Bethesda, MD 20892 USA. RP Thurm, A (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA. EM athurm@mail.nih.gov FU Intramural Program of National Institute of Mental Health of National Institutes of Health [NCT00298246, 06-M-0102] FX This work was supported by the Intramural Program of the National Institute of Mental Health of the National Institutes of Health, NCT00298246, 06-M-0102. The views expressed in this paper do not necessarily represent the views of the NIMH, NIH, HHS, or the United States Government. The authors extend their gratitude to the children and their families who volunteered their time and efforts during the research. NR 34 TC 2 Z9 2 U1 6 U2 19 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 0929-7049 EI 1744-4136 J9 CHILD NEUROPSYCHOL JI Child Neuropsychol. PD JUL 3 PY 2016 VL 22 IS 5 BP 556 EP 569 DI 10.1080/09297049.2015.1020775 PG 14 WC Clinical Neurology SC Neurosciences & Neurology GA DJ0FC UT WOS:000373876200003 PM 25833070 ER PT J AU Solomon, BD Lee, T Nguyen, AD Wolfsberg, TG AF Solomon, Benjamin D. Lee, Teresa Anh-Dao Nguyen Wolfsberg, Tyra G. TI A 2.5-year snapshot of Mendelian discovery SO MOLECULAR GENETICS & GENOMIC MEDICINE LA English DT Editorial Material ID CLINICAL GENOME; DISORDERS; DISEASE C1 [Solomon, Benjamin D.] Inova Hlth Syst, Inova Translat Med Inst, Div Med Genom, Falls Church, VA 22042 USA. [Solomon, Benjamin D.; Lee, Teresa] Inova Hlth Syst, Inova Childrens Hosp, Dept Pediat, Falls Church, VA 22042 USA. [Solomon, Benjamin D.] Virginia Commonwealth Univ, Sch Med, Dept Pediat, Richmond, VA 23298 USA. [Anh-Dao Nguyen; Wolfsberg, Tyra G.] Natl Human Genome Res Inst, Computat & Stat Genom Branch, Bethesda, MD 20892 USA. RP Solomon, BD (reprint author), Inova Hlth Syst, Inova Translat Med Inst, Div Med Genom, Falls Church, VA 22042 USA.; Solomon, BD (reprint author), Inova Hlth Syst, Inova Childrens Hosp, Dept Pediat, Falls Church, VA 22042 USA.; Solomon, BD (reprint author), Virginia Commonwealth Univ, Sch Med, Dept Pediat, Richmond, VA 23298 USA. FU Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health FX This research was supported in part by the Intramural Research Program of the National Human Genome Research Institute, the National Institutes of Health. NR 12 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2324-9269 J9 MOL GENET GENOM MED JI Mol. Genet. Genom. Med. PD JUL PY 2016 VL 4 IS 4 BP 392 EP 394 DI 10.1002/mgg3.221 PG 3 WC Genetics & Heredity SC Genetics & Heredity GA EL2KX UT WOS:000394449700003 PM 27468415 ER PT J AU Tobe, R Carlson, BA Huh, JH Castro, NP Xu, XM Tsuji, PA Lee, SG Bang, J Na, JW Kong, YY Beaglehole, D Southon, E Seifried, H Tessarollo, L Salomon, DS Schweizer, U Gladyshev, VN Hatfield, DL Lee, BJ AF Tobe, Ryuta Carlson, Bradley A. Huh, Jang Hoe Castro, Nadia P. Xu, Xue-Ming Tsuji, Petra A. Lee, Sang-Goo Bang, Jeyoung Na, Ji-Woon Kong, Young-Yun Beaglehole, Daniel Southon, Eileen Seifried, Harold Tessarollo, Lino Salomon, David S. Schweizer, Ulrich Gladyshev, Vadim N. Hatfield, Dolph L. Lee, Byeong Jae TI Selenophosphate synthetase 1 is an essential protein with roles in regulation of redox homoeostasis in mammals SO BIOCHEMICAL JOURNAL LA English DT Article DE cancer; reactive oxygen species (ROS); redox regulation; selenium; selenocysteine; selenophosphate synthetase 1 ID SELENOPROTEIN BIOSYNTHESIS; GLUTATHIONE TRANSFERASE; THIOREDOXIN REDUCTASE; GENETIC-CODE; SELENOCYSTEINE; SELENIUM; METABOLISM; EXPRESSION; DROSOPHILA; CELLS AB Selenophosphate synthetase (SPS) was initially detected in bacteria and was shown to synthesize selenophosphate, the active selenium donor. However, mammals have two SPS paralogues, which are designated SPS1 and SPS2. Although it is known that SPS2 catalyses the synthesis of selenophosphate, the function of SPS1 remains largely unclear. To examine the role of SPS1 in mammals, we generated a Sps1-knockout mouse and found that systemic SPS1 deficiency led to embryos that were clearly underdeveloped by embryonic day (E)8.5 and virtually resorbed by E14.5. The knockout of Sps1 in the liver preserved viability, but significantly affected the expression of a large number of mRNAs involved in cancer, embryonic development and the glutathione system. Particularly notable was the extreme deficiency of glutaredoxin 1 (GLRX1) and glutathione transferase Omega 1 (GSTO1). To assess these phenotypes at the cellular level, we targeted the removal of SPS1 in F9 cells, a mouse embryonal carcinoma (EC) cell line, which affected the glutathione system proteins and accordingly led to the accumulation of hydrogen peroxide in the cell. Furthermore, we found that several malignant characteristics of SPS1-deficient F9 cells were reversed, suggesting that SPS1 played a role in supporting and/or sustaining cancer. In addition, the overexpression of mouse or human GLRX1 led to a reversal of observed increases in reactive oxygen species (ROS) in the F9 SPS1/GLRX1-deficient cells and resulted in levels that were similar to those in F9 SPS1-sufficient cells. The results suggested that SPS1 is an essential mammalian enzyme with roles in regulating redox homoeostasis and controlling cell growth. C1 [Tobe, Ryuta; Carlson, Bradley A.; Xu, Xue-Ming; Beaglehole, Daniel; Hatfield, Dolph L.] NIH, Mol Biol Selenium, Mouse Canc Genet Program, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. [Huh, Jang Hoe; Bang, Jeyoung; Na, Ji-Woon; Kong, Young-Yun; Lee, Byeong Jae] Seoul Natl Univ, Sch Biol Sci, Seoul 151742, South Korea. [Castro, Nadia P.; Salomon, David S.] NIH, Tumor Growth Factor Sect, Mouse Canc Genet Program, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. [Tsuji, Petra A.] Towson Univ, Dept Biol Sci, Towson, MD 21252 USA. [Lee, Sang-Goo; Gladyshev, Vadim N.] Harvard Med Sch, Brigham & Womens Hosp, Div Genet, Boston, MA 02115 USA. [Southon, Eileen] NCI Frederick, Basic Sci Program, SAIC Frederick, Frederick, MD 21702 USA. [Seifried, Harold] NCI, Nutr Sci Res Grp, Bethesda, MD 20892 USA. [Tessarollo, Lino] NIH, Neural Dev Sect, Mouse Canc Genet Program, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. [Schweizer, Ulrich] Rhein Friedrich Wilhelms Univ Bonn, Inst Biochem & Mol Biol, D-53115 Bonn, Germany. [Xu, Xue-Ming] Genecopoeia Inc, 9620 Med Ctr Dr 101, Rockville, MD 20850 USA. RP Hatfield, DL (reprint author), NIH, Mol Biol Selenium, Mouse Canc Genet Program, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA.; Lee, BJ (reprint author), Seoul Natl Univ, Sch Biol Sci, Seoul 151742, South Korea. EM hatfield@mail.nih.gov; imbglmg@snu.ac.kr OI Schweizer, Ulrich/0000-0003-1380-4780 FU Basic Science Research Program through National Research Foundation of Korea (NRF) - Ministry of Education [2015R1D1A1A01059170]; Bio & Medical Technology Development Program of the National Research Foundation (NRF); Ministry of Science [2012M3A9D1054622]; Intramural Research Program of the National Institutes of Health; National Institutes of Health [CA080946, GM061603, GM065204]; National Cancer Institute Center for Cancer Research; Deutsche Forschungsgemeinschaft (DFG) [SCHW914/2-1]; Towson University's Jess and Mildred Fisher College of Science and Mathematics Endowed Chair FX This work was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education [grant number 2015R1D1A1A01059170]; the Bio & Medical Technology Development Program of the National Research Foundation (NRF), awarded by the Ministry of Science [grant number 2012M3A9D1054622 (to B.J.L.)]; the Intramural Research Program of the National Institutes of Health; the National Institutes of Health [grant numbers CA080946, GM061603 and GM065204 (to V.N.G.)]; the National Cancer Institute Center for Cancer Research (to D.L.H., D.S.S. and L.T.); the Deutsche Forschungsgemeinschaft (DFG) [grant number SCHW914/2-1 (to U.S.)]; and the Towson University's Jess and Mildred Fisher College of Science and Mathematics Endowed Chair (to P.A.T.). NR 46 TC 0 Z9 0 U1 1 U2 1 PU PORTLAND PRESS LTD PI LONDON PA CHARLES DARWIN HOUSE, 12 ROGER STREET, LONDON WC1N 2JU, ENGLAND SN 0264-6021 EI 1470-8728 J9 BIOCHEM J JI Biochem. J. PD JUL PY 2016 VL 473 BP 2141 EP 2154 DI 10.1042/BCJ20160393 PN 14 PG 14 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EK1TA UT WOS:000393707500014 PM 27208177 ER PT J AU Shen, HM Li, Z AF Shen, Hongmei Li, Zheng TI miRNAs in NMDA receptor-dependent synaptic plasticity and psychiatric disorders SO CLINICAL SCIENCE LA English DT Review DE miRNA; NMDA receptor; psychiatric disorders; synaptic plasticity ID LONG-TERM DEPRESSION; GLUTAMATE METABOTROPIC RECEPTORS; AUTISM SPECTRUM DISORDERS; 22Q11.2 DELETION SYNDROME; ADULT-MOUSE FOREBRAIN; COPY-NUMBER VARIATION; HIPPOCAMPAL-NEURONS; GENE-EXPRESSION; MICRORNA TARGETS; MORPHOLOGICAL PLASTICITY AB The identification and functional delineation of miRNAs (a class of small non-coding RNAs) have added a new layer of complexity to our understanding of the molecular mechanisms underlying synaptic plasticity. Genome-wide association studies in conjunction with investigations in cellular and animal models, moreover, provide evidence that miRNAs are involved in psychiatric disorders. In the present review, we examine the current knowledge about the roles played by miRNAs in NMDA (N-methyl-D-aspartate) receptor-dependent synaptic plasticity and psychiatric disorders. C1 [Shen, Hongmei; Li, Zheng] NIMH, Sect Synapse Dev & Plast, NIH, Bethesda, MD 20892 USA. RP Li, Z (reprint author), NIMH, Sect Synapse Dev & Plast, NIH, Bethesda, MD 20892 USA. EM lizheng2@mail.nih.gov NR 124 TC 0 Z9 0 U1 1 U2 1 PU PORTLAND PRESS LTD PI LONDON PA CHARLES DARWIN HOUSE, 12 ROGER STREET, LONDON WC1N 2JU, ENGLAND SN 0143-5221 EI 1470-8736 J9 CLIN SCI JI Clin. Sci. PD JUL 1 PY 2016 VL 130 IS 14 BP 1137 EP 1146 DI 10.1042/CS20160046 PG 10 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EK2MI UT WOS:000393761000001 PM 27252401 ER PT J AU Drelon, C Berthon, A Mathieu, M Ragazzon, B Kuick, R Tabbal, H Septier, A Rodriguez, S Batisse-Lignier, M Sahut-Barnola, I Dumontet, T Pointud, JC Lefrancois-Martinez, AM Baron, S Giordano, TJ Bertherat, J Martinez, A Val, P AF Drelon, Coralie Berthon, Annabel Mathieu, Mickael Ragazzon, Bruno Kuick, Rork Tabbal, Houda Septier, Amandine Rodriguez, Stephanie Batisse-Lignier, Marie Sahut-Barnola, Isabelle Dumontet, Typhanie Pointud, Jean-Christophe Lefrancois-Martinez, Anne-Marie Baron, Silvere Giordano, Thomas J. Bertherat, Jerome Martinez, Antoine Val, Pierre TI EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progression SO HUMAN MOLECULAR GENETICS LA English DT Article ID HISTONE METHYLTRANSFERASE EZH2; BETA-CATENIN; PROSTATE-CANCER; PRB-E2F PATHWAY; GENE-EXPRESSION; TUMORS; CELLS; METHYLATION; ACTIVATION; REVEALS AB Adrenal Cortex Carcinoma (ACC) is an aggressive tumour with poor prognosis. Common alterations in patients include constitutive WNT/beta-catenin signalling and overexpression of the growth factor IGF2. However, the combination of both alterations in transgenic mice is not sufficient to trigger malignant tumour progression, suggesting that other alterations are required to allow development of carcinomas. Here, we have conducted a study of publicly available gene expression data from three cohorts of ACC patients to identify relevant alterations. Our data show that the histone methyltransferase EZH2 is overexpressed in ACC in the three cohorts. This overexpression is the result of deregulated P53/RB/E2F pathway activity and is associated with increased proliferation and poorer prognosis in patients. Inhibition of EZH2 by RNA interference or pharmacological treatment with DZNep inhibits cellular growth, wound healing and clonogenic growth and induces apoptosis of H295R cells in culture. Further growth inhibition is obtained when DZNep is combined with mitotane, the gold-standard treatment for ACC. Altogether, these observations suggest that overexpression of EZH2 is associated with aggressive progression and may constitute an interesting therapeutic target in the context of ACC. C1 [Drelon, Coralie; Berthon, Annabel; Mathieu, Mickael; Tabbal, Houda; Septier, Amandine; Rodriguez, Stephanie; Batisse-Lignier, Marie; Sahut-Barnola, Isabelle; Dumontet, Typhanie; Pointud, Jean-Christophe; Lefrancois-Martinez, Anne-Marie; Baron, Silvere; Martinez, Antoine; Val, Pierre] Clermont Univ, INSERM, U1103, CNRS,GReD,UMR6293, F-63001 Clermont Ferrand, France. [Berthon, Annabel] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD 20892 USA. [Ragazzon, Bruno; Bertherat, Jerome] Univ Paris 05, INSERM, U1016, Inst Cochin,CNRS,UMR 8104, Paris, France. [Kuick, Rork] Univ Michigan Hlth Syst, Dept Biostat, Ann Arbor, MI 48109 USA. [Batisse-Lignier, Marie] Ctr Hosp Univ, Fac Med, Serv Endocrinol, F-63000 Clermont Ferrand, France. [Giordano, Thomas J.] Univ Michigan Hlth Syst, Dept Pathol, Ann Arbor, MI 48109 USA. RP Val, P (reprint author), GReD, CNRS, UMR 6293, 24 Ave Landais, F-63171 Aubiere, France. EM pierre.val@univ-bpclermont.fr RI Ragazzon, Bruno/E-6541-2017 OI Ragazzon, Bruno/0000-0001-9476-4973 FU Centre National de la Recherche Scientifique; Institut National de la Sante et de la Recherche Medicale; Universite Blaise Pascal; Universite d'Auvergne; Fondation de France; La Ligue Contre le Cancer (Allier & Puy de Dome committees); Fondation ARC [PJA20141201894]; Societe Francaise d'Endocrinologie; University of Michigan Cancer Center [P30-CA046592] FX This work was supported by institutional support from Centre National de la Recherche Scientifique, Institut National de la Sante et de la Recherche Medicale, Universite Blaise Pascal, Universite d'Auvergne and through grants from Fondation de France, La Ligue Contre le Cancer (Allier & Puy de Dome committees), Fondation ARC (PJA20141201894), Societe Francaise d'Endocrinologie (young researcher grant to C.D. and Researcher Prize to P.V.) and University of Michigan Cancer Center Support Grant P30-CA046592 (NIH to R.K. and T.J.G.). The funders had no role in study design, data collection and analysis, decision to publish or preparation of the article. NR 51 TC 0 Z9 0 U1 2 U2 2 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0964-6906 EI 1460-2083 J9 HUM MOL GENET JI Hum. Mol. Genet. PD JUL 1 PY 2016 VL 25 IS 13 BP 2789 EP 2800 DI 10.1093/hmg/ddw136 PG 12 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA EJ2TP UT WOS:000393064400014 PM 27149985 ER PT J AU Leslie, EJ Carlson, JC Shaffer, JR Feingold, E Wehby, G Laurie, CA Jain, D Laurie, CC Doheny, KF McHenry, T Resick, J Sanchez, C Jacobs, J Emanuele, B Vieira, AR Neiswanger, K Lidral, AC Valencia-Ramirez, LC Lopez-Palacio, AM Valencia, DR Arcos-Burgos, M Czeizel, AE Field, LL Padilla, CD Maria, E Cutiongco-de la Paz, C Deleyiannis, F Christensen, K Munger, RG Lie, RT Wilcox, A Romitti, PA Castilla, EE Mereb, JC Poletta, FA Orioli, IM Carvalho, FM Hecht, JT Blanton, SH Buxo, CJ Butali, A Mossey, PA Adeyemo, WL James, O Braimah, RO Aregbesola, BS Eshete, MA Abate, F Koruyucu, M Seymen, F Ma, L de Salamanca, JE Weinberg, SM Moreno, L Murray, JC Marazita, ML AF Leslie, Elizabeth J. Carlson, Jenna C. Shaffer, John R. Feingold, Eleanor Wehby, George Laurie, Cecelia A. Jain, Deepti Laurie, Cathy C. Doheny, Kimberly F. McHenry, Toby Resick, Judith Sanchez, Carla Jacobs, Jennifer Emanuele, Beth Vieira, Alexandre R. Neiswanger, Katherine Lidral, Andrew C. Consuelo Valencia-Ramirez, Luz Maria Lopez-Palacio, Ana Rivera Valencia, Dora Arcos-Burgos, Mauricio Czeizel, Andrew E. Field, L. Leigh Padilla, Carmencita D. Maria, Eva Cutiongco-de la Paz, C. Deleyiannis, Frederic Christensen, Kaare Munger, Ronald G. Lie, Rolv T. Wilcox, Allen Romitti, Paul A. Castilla, Eduardo E. Mereb, Juan C. Poletta, Fernando A. Orioli, Ieda M. Carvalho, Flavia M. Hecht, Jacqueline T. Blanton, Susan H. Buxo, Carmen J. Butali, Azeez Mossey, Peter A. Adeyemo, Wasiu L. James, Olutayo Braimah, Ramat O. Aregbesola, Babatunde S. Eshete, Mekonen A. Abate, Fikre Koruyucu, Mine Seymen, Figen Ma, Lian Enriquez de Salamanca, Javier Weinberg, Seth M. Moreno, Lina Murray, Jeffrey C. Marazita, Mary L. TI A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13 SO HUMAN MOLECULAR GENETICS LA English DT Article ID SUSCEPTIBILITY LOCUS; CAUSE VAN; GENE; RISK; POPULATION; EXPRESSION; MUTATIONS; VARIANTS; CANCER; ENDOTHELIN-1 AB Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted am ultiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 x 10(-8)), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 x 10(-8)). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 x 10(-8)) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs. C1 [Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Weinberg, Seth M.; Marazita, Mary L.] Univ Pittsburgh, Ctr Craniofacial & Dent Genet, Dept Oral Biol, Sch Dent Med, Pittsburgh, PA 15219 USA. [Carlson, Jenna C.; Feingold, Eleanor] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Biostat, Pittsburgh, PA 15261 USA. [Shaffer, John R.; Feingold, Eleanor; Vieira, Alexandre R.; Marazita, Mary L.] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA. [Wehby, George] Univ Iowa, Coll Publ Hlth, Dept Hlth Management & Policy, Iowa City, IA 52246 USA. [Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.] Univ Washington, Dept Biostat, Genet Coordinating Ctr, Seattle, WA 98195 USA. [Doheny, Kimberly F.] Johns Hopkins Univ, Ctr Inherited Dis Res, Baltimore, MD 21224 USA. [Lidral, Andrew C.; Moreno, Lina] Univ Iowa, Dept Orthodont, Coll Publ Hlth, Iowa City, IA 52242 USA. [Romitti, Paul A.] Univ Iowa, Dept Epidemiol, Coll Publ Hlth, Iowa City, IA 52242 USA. [Butali, Azeez; Marazita, Mary L.] Univ Iowa, Coll Dent, Dept Oral Pathol Radiol & Med, Dows Inst Dent Res, Iowa City, IA 52242 USA. [Murray, Jeffrey C.] Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA. [Consuelo Valencia-Ramirez, Luz] Fdn Clin Noel, Medellin 050012, Colombia. [Maria Lopez-Palacio, Ana] Univ Antioquia, Dept Basic Integrated Studies, Coll Dent, Medellin 050001, Colombia. [Rivera Valencia, Dora] Univ Antioquia, Populat Genet & Mutacarcinogenesis Grp, Medellin 050001, Colombia. [Arcos-Burgos, Mauricio] Australian Natl Univ, ANU Coll Med Biol & Environm, John Curtin Sch Med Res, Genom & Predict Med,Genome Biol Dept, Canberra, ACT 0200, Australia. [Czeizel, Andrew E.] Fdn Community Control Hereditary Dis, H-1051 Budapest, Hungary. [Field, L. Leigh] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada. [Padilla, Carmencita D.; Cutiongco-de la Paz, C.] Coll Med, Dept Pediat, Manila 1000, Philippines. [Padilla, Carmencita D.; Cutiongco-de la Paz, C.] Natl Inst Hlth, Inst Human Genet, Manila 1000, Philippines. [Padilla, Carmencita D.; Cutiongco-de la Paz, C.] Univ Philippines Manila, Manila 1000, Philippines. [Padilla, Carmencita D.; Cutiongco-de la Paz, C.] Univ Philippines Syst, Philippine Genome Ctr, Manila 1101, Philippines. [Deleyiannis, Frederic] Univ Colorado, Dept Surg Plast & Reconstruct Surg, Sch Med, Denver, CO 80045 USA. [Christensen, Kaare] Univ Southern Denmark, Dept Epidemiol, Inst Publ Hlth, DK-5230 Odense, Denmark. [Munger, Ronald G.] Utah State Univ, Dept Nutr Dietet & Food Sci, Logan, UT 84322 USA. [Lie, Rolv T.] Univ Bergen, Dept Global Publ Hlth & Primary Care, NO-5020 Bergen, Norway. [Wilcox, Allen] NIEHS, Epidemiol Branch, Res Triangle Pk, NC 27709 USA. [Castilla, Eduardo E.; Poletta, Fernando A.] CEMIC Ctr Med Educ & Clin Res, RA-1431 Buenos Aires, DF, Argentina. [Castilla, Eduardo E.; Poletta, Fernando A.; Carvalho, Flavia M.] Fiocruz MS, Inst Oswaldo Cruz, Lab Congenital Malformat Epidemiol, BR-21040360 Rio De Janeiro, Brazil. [Castilla, Eduardo E.; Poletta, Fernando A.; Orioli, Ieda M.; Carvalho, Flavia M.] Univ Fed Rio de Janeiro, ECLAMC Latin Amer Collaborat Study Congenital Mal, INAGEMP Natl Inst Populat Med Genet, BR-21941617 Rio De Janeiro, Brazil. [Orioli, Ieda M.] Univ Fed Rio de Janeiro, Dept Genet, Inst Biol, BR-21941617 Rio De Janeiro, Brazil. [Mereb, Juan C.] Hosp Area, ECLAMC Latin Amer Collaborat Study Congenital Mal, RA-8430 El Bolson, Argentina. [Hecht, Jacqueline T.] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Houston, TX 77030 USA. [Blanton, Susan H.] Univ Miami, Hussman Inst Human Gen, Mailman Sch Med, Dr John T Macdonald Fdn,Dept Human Genet, Coral Gables, FL 33124 USA. [Buxo, Carmen J.] Univ Puerto Rico, Sch Dent Med, San Juan, PR 00936 USA. [Mossey, Peter A.] Univ Dundee, Dept Orthodont, Dundee DD1 4HN, Scotland. [Adeyemo, Wasiu L.; James, Olutayo] Univ Lagos, Coll Med, Dept Oral & Maxillofacial Surg, PMB 12003, Lagos, Nigeria. [Braimah, Ramat O.; Aregbesola, Babatunde S.] Obafemi Awolowo Univ, Dept Oral & Maxillofacial Surg, PMB 13, Ife, Nigeria. [Eshete, Mekonen A.; Abate, Fikre] Univ Addis Ababa, Sch Med, Dept Surg, POB 26493, Addis Ababa, Ethiopia. [Koruyucu, Mine; Seymen, Figen] Istanbul Univ, Dept Pedodont, TR-34116 Istanbul, Turkey. [Ma, Lian] Peking Univ, Sch Stomatol, Beijing 100081, Peoples R China. [Enriquez de Salamanca, Javier] Hosp Infantil Univ Nino Jesus, Unidad Cirugia Plast, Madrid 28009, Spain. [Marazita, Mary L.] Univ Pittsburgh, Sch Med, Clin & Translat Sci, Pittsburgh, PA 15213 USA. RP Marazita, ML (reprint author), Suite 500 Bridgeside Point,100 Technol Dr, Pittsburgh, PA 15219 USA. EM marazita@pitt.edu OI Wilcox, Allen/0000-0002-3376-1311; Christensen, Kaare/0000-0002-5429-5292 FU National Institutes of Health [X01-HG007485, R01-DE016148, U01-DE024425, R37-DE008559, R01-DE009886, R01-DE014667, R21-DE016930, R01-DE012472, R01-DE011931, R01-DE011948, R01-DD000295, U54-MD007587]; Robert Wood Johnson Foundation, AMFDP [72429]; Research Institute of the Children's Hospital of Colorado (FWD); Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila; Fundacao de Amparo a Pesquisa do Estado do Rio de Janeiro, Brazil [E-26/102.797/2012, E-26/110.140/2013]; CNPq, Brazil [481069/2012-7, 306396/2013-0, 400427/2013-3]; Danish National Research Foundation; Pharmacy Foundation; Egmont Foundation; March of Dimes Birth Defects Foundation; Augustinus Foundation; Health Foundation; National Institute of Environmental Health Sciences/National Institutes of Health Intramural Research Program; Norwegian Research Council; The National Institutes of Health [R25-MD007607, K99-DE024571, K99/R00-DE022378, K99-DE025060, R01-DE020895, HHSN268201200008I] FX National Institutes of Health (X01-HG007485 to MLM, R01-DE016148 to M.L.M., U01-DE024425 to M.L.M, R37-DE008559 to J.C.M. and MLM, R01-DE009886 to M.L.M., R21-DE016930 to M.L.M., R01-DE014667 to A.C.L. and L.M.M., R21-DE016930 to M.L.M., R01-DE012472 to M.L.M., R01-DE011931 to J.T.H., R01-DE011948 to K.C., R01-DD000295 to G.L.W., U54-MD007587 to C.J.B., R25-MD007607 to C.J.B., K99-DE024571 to C.J.B., K99/R00-DE022378 to A.B., K99-DE025060 to E.J.L., and R01-DE020895 to G.L.W.). Genotyping and data cleaning were provided via an National Institutes of Health contract HHSN268201200008I to the Johns Hopkins Center for Inherited Disease Research. Additional support provided by: the Robert Wood Johnson Foundation, AMFDP Grant (72429 to A.B.); an intramural grant from the Research Institute of the Children's Hospital of Colorado (FWD); operating costs support in the Philippines was provided by the Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila (C.P.); grants through Fundacao de Amparo a Pesquisa do Estado do Rio de Janeiro, Brazil (I.M.O.): grant numbers (E-26/102.797/2012, E-26/110.140/2013); grants through CNPq, Brazil (I.M.O.): grant numbers: (481069/2012-7, 306396/2013-0, 400427/2013-3). Some replication samples were from the Utah Child and Family Health study (R01-DE016877 [R.G.M.]. Some replication samples were from the Danish National Birth Cohort (PIs Mads Melbye and Jorn Olsen) funded by a major grant from the Danish National Research Foundation and initiated by the Danish Epidemiology Science Centre. Additional support for the Danish National Birth Cohort was obtained from the Pharmacy Foundation, the Egmont Foundation, the March of Dimes Birth Defects Foundation, the Augustinus Foundation, and the Health Foundation. Some replication samples were from the Norwegian Cleft Study and from the Norwegian MoBa Study, both supported by the National Institute of Environmental Health Sciences/National Institutes of Health Intramural Research Program and the Norwegian Research Council. NR 52 TC 5 Z9 5 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0964-6906 EI 1460-2083 J9 HUM MOL GENET JI Hum. Mol. Genet. PD JUL 1 PY 2016 VL 25 IS 13 BP 2862 EP 2872 DI 10.1093/hmg/ddw104 PG 11 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA EJ2TP UT WOS:000393064400020 PM 27033726 ER PT J AU Yale, K Tackett, AJ Neuman, M Bulley, E Chait, BT Wiley, E AF Yale, Katerina Tackett, Alan J. Neuman, Monica Bulley, Emily Chait, Brian T. Wiley, Emily TI Phosphorylation-Dependent Targeting of Tetrahymena HP1 to Condensed Chromatin SO MSPHERE LA English DT Article DE HP1; Tetrahymena; chromatin; chromodomain; ciliates; heterochromatin; protein phosphorylation ID HETEROCHROMATIN PROTEIN-1 HP1; HISTONE H3; HP1-LIKE PROTEIN; DNA ELIMINATION; SHADOW DOMAIN; DROSOPHILA-MELANOGASTER; MACRONUCLEAR ANLAGEN; GENE-EXPRESSION; CELL-CYCLE; BINDING AB The evolutionarily conserved proteins related to heterochromatin protein 1 (HP1), originally described in Drosophila, are well known for their roles in heterochromatin assembly and gene silencing. Targeting of HP1 proteins to specific chromatin locales is mediated, at least in part, by the HP1 chromodomain, which binds to histone H3 methylated at lysine 9 that marks condensed regions of the genome. Mechanisms that regulate HP1 targeting are emerging from studies with yeast and metazoans and point to roles for posttranslational modifications. Here, we report that modifications of an HP1 homolog (Hhp1) in the ciliate model Tetrahymena thermophila correlated with the physiological state and with nuclear differentiation events involving the restructuring of chromatin. Results support the model in which Hhp1 chromodomain binds lysine 27-methylated histone H3, and we show that colocalization with this histone mark depends on phosphorylation at a single Cdc2/Cdk1 kinase site in the "hinge region" adjacent to the chromodomain. These findings help elucidate important functional roles of reversible posttranslational modifications of proteins in the HP1 family, in this case, regulating the targeting of a ciliate HP1 to chromatin regions marked with methylated H3 lysine 27. IMPORTANCE Compacting the genome to various degrees influences processes that use DNA as a template, such as gene transcription and replication. This project was aimed at learning more about the cellular mechanisms that control genome compaction. Posttranslational modifications of proteins involved in genome condensation are emerging as potentially important points of regulation. To help elucidate protein modifications and how they affect the function of condensation proteins, we investigated the phosphorylation of the chromatin protein called Hhp1 in the ciliated protozoan Tetrahymena thermophila. This is one of the first functional investigations of these modifications of a nonhistone chromatin condensation protein that acts on the ciliate genome, and discoveries will aid in identifying common, evolutionarily conserved strategies that control the dynamic compaction of genomes. C1 [Yale, Katerina; Neuman, Monica; Bulley, Emily; Wiley, Emily] Pitzer, WM Keck Sci Ctr Claremont McKenna, Claremont, CA 91711 USA. [Yale, Katerina; Neuman, Monica; Bulley, Emily; Wiley, Emily] Scripps Coll, Claremont, CA 91711 USA. [Tackett, Alan J.; Chait, Brian T.] Rockefeller Univ, Lab Mass Spectrometry & Gaseous Ion Chem, 1230 York Ave, New York, NY 10021 USA. [Yale, Katerina] George Washington Univ, Sch Med & Hlth Sci, Washington, DC 63130 USA. [Tackett, Alan J.] Univ Arkansas Med Sci, Little Rock, AR 72205 USA. [Neuman, Monica] NIH, Bethesda, MD USA. [Wiley, Emily] Univ Washington, Sch Med, Seattle, WA USA. EM ewiley@kecksci.claremont.edu FU HHS \ National Institutes of Health (NIH) [GM18785-04, GM103314]; National Science Foundation (NSF) [MCB 0545560] FX This work, including the efforts of Emily Wiley, was funded by HHS vertical bar National Institutes of Health (NIH) (GM18785-04). This work, including the efforts of Brian T. Chait, was funded by HHS vertical bar National Institutes of Health (NIH) (GM103314). This work, including the efforts of Emily Wiley, was funded by National Science Foundation (NSF) (MCB 0545560). NR 59 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2379-5042 J9 MSPHERE JI mSphere PD JUL-AUG PY 2016 VL 1 IS 4 AR e00142-16 DI 10.1128/mSphere.00142-16 PG 14 WC Microbiology SC Microbiology GA EI6DU UT WOS:000392586000010 ER PT J AU Bohon, KS Hermann, KL Hansen, T Conway, BR AF Bohon, Kaitlin S. Hermann, Katherine L. Hansen, Thorsten Conway, Bevil R. TI Representation of Perceptual Color Space in Macaque Posterior Inferior Temporal Cortex (the V4 Complex) SO ENEURO LA English DT Article DE color; macaque; monkey; neurophysiology; v4; vision ID PRIMARY VISUAL-CORTEX; LATERAL GENICULATE-NUCLEUS; UNIQUE HUES; CHROMATIC MECHANISMS; STRIATE CORTEX; AREA V4; EXTRASTRIATE CORTEX; CARDINAL DIRECTIONS; SELECTIVE CELLS; CONE SIGNALS AB The lateral geniculate nucleus is thought to represent color using two populations of cone-opponent neurons [ L vs M; S vs (L + M)], which establish the cardinal directions in color space (reddish vs cyan; lavender vs lime). How is this representation transformed to bring about color perception? Prior work implicates populations of glob cells in posterior inferior temporal cortex (PIT; the V4 complex), but the correspondence between the neural representation of color in PIT/V4 complex and the organization of perceptual color space is unclear. We compared color-tuning data for populations of glob cells and interglob cells to predictions obtained using models that varied in the color-tuning narrowness of the cells, and the color preference distribution across the populations. Glob cells were best accounted for by simulated neurons that have nonlinear (narrow) tuning and, as a population, represent a color space designed to be perceptually uniform (CIELUV). Multidimensional scaling and representational similarity analyses showed that the color space representations in both glob and interglob populations were correlated with the organization of CIELUV space, but glob cells showed a stronger correlation. Hue could be classified invariant to luminance with high accuracy given glob responses and above-chance accuracy given interglob responses. Luminance could be read out invariant to changes in hue in both populations, but interglob cells tended to prefer stimuli having luminance contrast, regardless of hue, whereas glob cells typically retained hue tuning as luminance contrast was modulated. The combined luminance/hue sensitivity of glob cells is predicted for neurons that can distinguish two colors of the same hue at different luminance levels (orange/brown). C1 [Bohon, Kaitlin S.; Hermann, Katherine L.; Conway, Bevil R.] Wellesley Coll, Program Neurosci, Wellesley, MA 02481 USA. [Bohon, Kaitlin S.; Hermann, Katherine L.; Conway, Bevil R.] MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA. [Hansen, Thorsten] Justus Liebig Univ Giessen, Dept Psychol, D-35396 Giessen, Germany. RP Conway, BR (reprint author), NEI, Sensorimotor Res Lab, NIH, Bldg 10, Bethesda, MD 20892 USA. EM bevil@mit.edu FU National Institutes of Health [EY023322]; National Science Foundation [1353571] FX This research was supported by National Institutes of Health Grant EY023322 and National Science Foundation Grant 1353571. NR 102 TC 1 Z9 1 U1 1 U2 1 PU SOC NEUROSCIENCE PI WASHINGTON PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA SN 2373-2822 J9 ENEURO JI eNeuro PD JUL-AUG PY 2016 VL 3 IS 4 DI 10.1523/ENEURO.0039-16.2016 PG 28 WC Neurosciences SC Neurosciences & Neurology GA EH7BV UT WOS:000391928700005 ER PT J AU Cheng, N Jiao, S Gumaste, A Bai, L Belluscio, L AF Cheng, Ning Jiao, Song Gumaste, Ankita Bai, Li Belluscio, Leonardo TI APP Overexpression Causes A beta-Independent Neuronal Death through Intrinsic Apoptosis Pathway SO ENEURO LA English DT Article DE amyloid precursor protein; apoptosis; neurodegeneration; olfactory ID MODERATE ALZHEIMERS-DISEASE; NEURODEGENERATIVE DISEASES; PATHOLOGICAL FEATURES; AMYLOID DEPOSITION; GENE-EXPRESSION; CELL-DEATH; KINASE-II; MODEL; SECRETASE; MOUSE AB Accumulation of amyloid-beta (A beta) peptide in the brain is a central hallmark of Alzheimer's disease (AD) and is thought to be the cause of the observed neurodegeneration. Many animal models have been generated that overproduce A yet do not exhibit clear neuronal loss, questioning this A beta hypothesis. We previously developed an in vivo mouse model that expresses a humanized amyloid precursor protein (hAPP) in olfactory sensory neurons (OSNs) showing robust apoptosis and olfactory dysfunction by 3 weeks of age, which is consistent with early OSN loss and smell deficits, as observed in AD patients. Here we show, by deleting the beta-site APP cleaving enzyme 1 (BACE1) in two distinct transgenic mouse models, that hAPP-induced apoptosis of OSNs is A beta independent and remains cell autonomous. In addition, we reveal that the intrinsic apoptosis pathway is responsible for hAPP-induced OSN death, as marked by mitochondrial damage and caspase-9 activation. Given that hAPP expression causes OSN apoptosis despite the absence of BACE1, we propose that A beta is not the sole cause of hAPP-induced neurodegeneration and that the early loss of olfactory function in AD may be based on a cell-autonomous mechanism, which could mark an early phase of AD, prior to A beta accumulation. Thus, the olfactory system could serve as an important new platform to study the development of AD, providing unique insight for both early diagnosis and intervention. C1 [Cheng, Ning; Jiao, Song; Gumaste, Ankita; Bai, Li; Belluscio, Leonardo] NINDS, Dev Neural Plast Sect, NIH, 35 Convent Dr, Bethesda, MD 20892 USA. RP Belluscio, L (reprint author), NINDS, Dev Neural Plast Sect, NIH, 35 Convent Dr, Bethesda, MD 20892 USA. EM belluscl@ninds.nih.gov FU Intramural Research Program of the National Institute of Neurological Disorders and Stroke FX This research was supported by the Intramural Research Program of the National Institute of Neurological Disorders and Stroke. NR 46 TC 1 Z9 1 U1 1 U2 1 PU SOC NEUROSCIENCE PI WASHINGTON PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA SN 2373-2822 J9 ENEURO JI eNeuro PD JUL-AUG PY 2016 VL 3 IS 4 DI 10.1523/ENEURO.0150-16.2016 PG 12 WC Neurosciences SC Neurosciences & Neurology GA EH7BV UT WOS:000391928700029 ER PT J AU Nordestgaard, BG Langsted, A Mora, S Kolovou, G Baum, H Bruckert, E Watts, GF Sypniewska, G Wiklund, O Boren, J Chapman, MJ Cobbaert, C Descamps, OS von Eckardstein, A Kamstrup, PR Pulkki, K Kronenberg, F Remaley, AT Rifai, N Ros, E Langlois, M AF Nordestgaard, Borge G. Langsted, Anne Mora, Samia Kolovou, Genovefa Baum, Hannsjorg Bruckert, Eric Watts, Gerald F. Sypniewska, Grazyna Wiklund, Olov Boren, Jan Chapman, M. John Cobbaert, Christa Descamps, Olivier S. von Eckardstein, Arnold Kamstrup, Pia R. Pulkki, Kari Kronenberg, Florian Remaley, Alan T. Rifai, Nader Ros, Emilio Langlois, Michel CA EAS European Federation Clinical Chem TI Fasting Is Not Routinely Required for Determination of a Lipid Profile: Clinical and Laboratory Implications Including Flagging at Desirable Concentration Cutpoints-A Joint Consensus Statement from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Medicine SO CLINICAL CHEMISTRY LA English DT Article ID DENSITY-LIPOPROTEIN CHOLESTEROL; ISCHEMIC-HEART-DISEASE; GENERAL-POPULATION; FAMILIAL HYPERCHOLESTEROLEMIA; NONFASTING TRIGLYCERIDES; CARDIOVASCULAR-DISEASE; ELEVATED LIPOPROTEIN(A); MYOCARDIAL-INFARCTION; REMNANT CHOLESTEROL; RISK-FACTOR AB AIMS: To critically evaluate the clinical implications of the use of non-fasting rather than fasting lipid profiles and to provide guidance for the laboratory reporting of abnormal non-fasting or fasting lipid profiles. METHODS AND RESULTS: Extensive observational data, in which random non-fasting lipid profiles have been compared with those determined under fasting conditions, indicate that the maximal mean changes at 1-6 h after habitual meals are not clinically significant [+0.3 mmol/L (26 mg/dL) for triglycerides; -0.2 mmol/L (8 mg/dL) for total cholesterol; -0.2 mmol/L (8 mg/dL) for LDL cholesterol; +0.2 mmol/L (8 mg/dL) for calculated remnant cholesterol; -0.2 mmol/L (8 mg/dL) for calculated non-HDL cholesterol]; concentrations of HDL cholesterol, apolipoprotein A1, apolipoprotein B, and lipoprotein(a) are not affected by fasting/non-fasting status. In addition, non-fasting and fasting concentrations vary similarly over time and are comparable in the prediction of cardiovascular disease. To improve patient compliance with lipid testing, we therefore recommend the routine use of non-fasting lipid profiles, whereas fasting sampling may be considered when non-fasting triglycerides are > 5 mmol/L (440 mg/dL). For non-fasting samples, laboratory reports should flag abnormal concentrations as triglycerides >= 2 mmol/L (175 mg/dL), total cholesterol >= 5 mmol/L (190 mg/dL), LDL cholesterol >= 3 mmol/L (115 mg/dL), calculated remnant cholesterol >= 0.9 mmol/L (35 mg/dL), calculated non-HDL cholesterol >= 3.9 mmol/L (150 mg/dL), HDL cholesterol <= 1 mmol/L (40 mg/dL), apolipoprotein A1 <= 1.25 g/L (125 mg/dL), apolipoprotein B >= 1.0 g/L (100 mg/dL), and lipoprotein(a) >= 50 mg/dL (80th percentile); for fasting samples, abnormal concentrations correspond to triglycerides >= 1.7 mmol/L (150 mg/dL). Life-threatening concentrations require separate referral for the risk of pancreatitis when triglycerides are >10 mmol/L (880 mg/dL), for homozygous familial hyper-cholesterolemia when LDL cholesterol is >13 mmol/L (500 mg/dL), for heterozygous familial hypercholesterol-emia when LDL cholesterol is >5 mmol/L (190 mg/dL), and for very high cardiovascular risk when lipoprotein(a) > 150 mg/dL (99th percentile). CONCLUSIONS: We recommend that non-fasting blood samples be routinely used for the assessment of plasma lipid profiles. Laboratory reports should flag abnormal values on the basis of desirable concentration cutpoints. Non-fasting and fasting measurements should be complementary but not mutually exclusive. (C) 2016 American Association for Clinical Chemistry C1 [Nordestgaard, Borge G.; Langsted, Anne; Kamstrup, Pia R.] Univ Copenhagen, Dept Clin Biochem, Herlev & Gentofte Hosp, Copenhagen Univ Hosp, Herlev, Denmark. [Mora, Samia] Harvard Med Sch, Brigham & Womens Hosp, Div Prevent Med, Boston, MA USA. [Mora, Samia] Harvard Med Sch, Brigham & Womens Hosp, Div Cardiovasc Med, Boston, MA USA. [Kolovou, Genovefa] Onassis Cardiac Surg Ctr, Dept Cardiol, Athens, Greece. [Baum, Hannsjorg] Reg Kliniken Holding RKH GmbH, Inst Lab Med Blutdepot & Krankenhaushyg, Ludwigsburg, Germany. [Bruckert, Eric] Pitie Salpetriere Univ Hosp, Paris, France. [Watts, Gerald F.] Univ Western Australia, Perth, WA, Australia. [Sypniewska, Grazyna] NC Univ, Coll Med, Dept Lab Med, Bydgoszcz, Poland. [Wiklund, Olov; Boren, Jan] Sahlgrens Univ Hosp, Gothenburg, Sweden. [Chapman, M. John] Pitie Salpetriere Univ Hosp, INSERM, U939, Paris, France. [Cobbaert, Christa] Leiden Univ, Med Ctr, Dept Clin Chem & Lab Med, Leiden, Netherlands. [Descamps, Olivier S.] Hop Jolimont, Haine St Paul, Belgium. [von Eckardstein, Arnold] Univ Zurich Hosp, Inst Clin Chem, Zurich, Switzerland. [Pulkki, Kari] Univ Eastern Finland, Dept Clin Chem, Kuopio, Finland. [Kronenberg, Florian] Med Univ Innsbruck, Dept Med Genet Mol & Clin Pharmacol, Div Genet Epidemiol, Innsbruck, Austria. [Remaley, Alan T.] NHLBI, Lipoprot Metab Sect, Cardiovasc Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Rifai, Nader] Harvard Univ, Childrens Hosp, Lab Med, Boston, MA 02115 USA. [Ros, Emilio] Hosp Clin Barcelona, Lipid Clin, Dept Endocrinol & Nutr, Inst Invest Biomed August Pi Sunyer, Barcelona, Spain. [Ros, Emilio] Inst Salud Carlos III, Ciber Fisiopatol Obesidad & Nutr, Madrid, Spain. [Langlois, Michel] Acad Hosp St Jan, Dept Lab Med, Brugge, Belgium. [Langlois, Michel] Univ Ghent, Ghent, Belgium. RP Nordestgaard, BG (reprint author), Copenhagen Univ Hosp, Dept Clin Biochem, Herlev & Gentofte Hosp, DK-2730 Herlev, Denmark. EM boerge.nordestgaard@regionh.dk RI Kronenberg, Florian/B-1736-2008 OI Kronenberg, Florian/0000-0003-2229-1120 FU Merck; Roche Diagnostics; Denka Seiken; European Atherosclerosis Society; European Federation of Clinical Chemistry and Laboratory Medicine FX Supported by unrestricted educational grants to EAS and EFLM from Merck, Roche Diagnostics, and Denka Seiken. These companies were not present at the Joint Consensus Panel meetings, had no role in the design or content of the joint consensus statement, and had no right to approve or disapprove of the final document. Funding to pay the Open Access publication charges for this article was provided by the European Atherosclerosis Society and the European Federation of Clinical Chemistry and Laboratory Medicine. NR 47 TC 5 Z9 5 U1 6 U2 6 PU AMER ASSOC CLINICAL CHEMISTRY PI WASHINGTON PA 2101 L STREET NW, SUITE 202, WASHINGTON, DC 20037-1526 USA SN 0009-9147 EI 1530-8561 J9 CLIN CHEM JI Clin. Chem. PD JUL PY 2016 VL 62 IS 7 BP 930 EP 946 DI 10.1373/clinchem.2016.258897 PG 17 WC Medical Laboratory Technology SC Medical Laboratory Technology GA EF2CL UT WOS:000390132000009 PM 27235445 ER PT J AU Gordon, LB Kieran, MW Kleinman, ME Misteli, T AF Gordon, Leslie B. Kieran, Mark W. Kleinman, Monica E. Misteli, Tom TI The decision-making process and criteria in selecting candidate drugs for progeria clinical trials SO EMBO MOLECULAR MEDICINE LA English DT Editorial Material ID HUTCHINSON-GILFORD PROGERIA AB Hutchinson-Gilford progeria syndrome (progeria) is an extremely rare premature aging disease with a population prevalence of 1 in 20 million. Nevertheless, propelled by the discovery of a causal mutation in the lamin A/C gene (LMNA) (De Sandre-Giovannoli et al, 2003; Eriksson et al, 2003) and strong patient advocacy (Gordon & Gordon, 2014), progeria has rapidly become a vibrant field of study, attracting a wide range of researchers from basic cell biologists to clinicians. C1 [Gordon, Leslie B.; Kleinman, Monica E.] Boston Childrens Hosp, Dept Anesthesiol Perioperat & Pain Med, Boston, MA 02115 USA. [Gordon, Leslie B.; Kleinman, Monica E.] Harvard Med Sch, Boston, MA 02115 USA. [Gordon, Leslie B.] Brown Univ, Dept Pediat, Hasbro Childrens Hosp, Providence, RI 02912 USA. [Gordon, Leslie B.] Brown Univ, Warren Alpert Med Sch, Providence, RI 02912 USA. [Kieran, Mark W.] Dana Farber Canc Inst, Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA 02115 USA. [Misteli, Tom] NCI, NIH, Bethesda, MD 20892 USA. RP Gordon, LB (reprint author), Boston Childrens Hosp, Dept Anesthesiol Perioperat & Pain Med, Boston, MA 02115 USA.; Gordon, LB (reprint author), Harvard Med Sch, Boston, MA 02115 USA.; Gordon, LB (reprint author), Brown Univ, Dept Pediat, Hasbro Childrens Hosp, Providence, RI 02912 USA.; Gordon, LB (reprint author), Brown Univ, Warren Alpert Med Sch, Providence, RI 02912 USA. EM leslie_gordon@brown.edu NR 8 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1757-4676 EI 1757-4684 J9 EMBO MOL MED JI EMBO Mol. Med. PD JUL PY 2016 VL 8 IS 7 BP 685 EP 687 DI 10.15252/emmm.201606280 PG 3 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DW4SC UT WOS:000383632300001 PM 27234439 ER PT J AU Yoon, SL Roh, YG Chu, IS Heo, J Kim, SI Chang, H Kang, TH Chung, JW Koh, SS Larionov, V Leem, SH AF Yoon, Se-Lyun Roh, Yun-Gil Chu, In-Sun Heo, Jeonghoon Kim, Seung Il Chang, Heekyung Kang, Tae-Hong Chung, Jin Woong Koh, Sang Seok Larionov, Vladimir Leem, Sun-Hee TI A polymorphic minisatellite region of BORIS regulates gene expression and its rare variants correlate with lung cancer susceptibility SO EXPERIMENTAL AND MOLECULAR MEDICINE LA English DT Article ID TRANSCRIPTION FACTORS; GASTRIC-CARCINOMA; VARIABLE NUMBER; PROSTATE-CANCER; BREAST-CANCER; TESTIS GENE; CELLS; CTCF; ALLELES; DEREPRESSION AB Aberrant expression of BORIS/CTCFL (Brother of the Regulator of Imprinted Sites/CTCF-like protein) is reported in different malignancies. In this study, we characterized the entire promoter region of BORIS/CTCFL, including the CpG islands, to assess the relationship between BORIS expression and lung cancer. To simplify the construction of luciferase reporter cassettes with various-sized portions of the upstream region, genomic copies of BORIS were isolated using TAR cloning technology. We analyzed three promoter blocks: the GATA/CCAAT box, the CpG islands and the minisatellite region BORIS-MS2. Polymorphic minisatellite sequences were isolated from genomic DNA prepared from the blood of controls and cases. Of the three promoter blocks, the GATA/CCAAT box was determined to be a critical element of the core promoter, while the CpG islands and the BORIS-MS2 minisatellite region were found to act as regulators. Interestingly, the polymorphic minisatellite region BORIS-MS2 was identified as a negative regulator that repressed the expression levels of luciferase reporter cassettes less effectively in cancer cells compared with normal cells. We also examined the association between the size of BORIS-MS2 and lung cancer in a case-control study with 590 controls and 206 lung cancer cases. Rare alleles of BORIS-MS2 were associated with a statistically significantly increased risk of lung cancer (odds ratio, 2.04; 95% confidence interval, 1.02-4.08; and P=0.039). To conclude, our data provide information on the organization of the BORIS promoter region and gene regulation in normal and cancer cells. In addition, we propose that specific alleles of the BORIS-MS2 region could be used to identify the risk for lung cancer. C1 [Yoon, Se-Lyun; Roh, Yun-Gil; Kang, Tae-Hong; Chung, Jin Woong; Koh, Sang Seok; Leem, Sun-Hee] Dong A Univ, Dept Biol Sci, 37 Nakdong Daero 550 Beon Gil, Busan 49315, South Korea. [Chu, In-Sun] Korea Res Inst Biosci & Biotechnol, Korean Bioinformat Ctr, Daejeon, South Korea. [Heo, Jeonghoon] Kosin Univ, Dept Mol Biol & Immunol, Coll Med, Busan, South Korea. [Kim, Seung Il] Korea Basic Sci Inst, Drug & Dis Target Team, Daejeon, South Korea. [Chang, Heekyung] Kosin Univ, Dept Pathol, Coll Med, Busan, South Korea. [Larionov, Vladimir] NCI, Dev Therapeut Branch, Bethesda, MD 20892 USA. RP Leem, SH (reprint author), Dong A Univ, Dept Biol Sci, 37 Nakdong Daero 550 Beon Gil, Busan 49315, South Korea. EM shleem@dau.ac.kr FU Mid-Career Researcher Program through the National Research Foundation of Korea (NRF) - Korea government (MEST) [NRF-2013R1A2A2A04008115]; Brain Busan 21 Project; Bio-Synergy Research Project of the Ministry of Science, ICT and Future Planning through the National Research Foundation [NRF-2014M3A9C4066461]; Korea Basic Science Institute research program [D35402] FX We gratefully acknowledge the patients, families and their caregivers for their willing participation in this project and for providing consent for the use of their information in this study. The study design and procedures were approved by the Committee of Bioethics at Dong-A University (#IRB-06-10-02 & IRB-07-10-7; Busan, Korea). This research was supported by the Mid-Career Researcher Program through the National Research Foundation of Korea (NRF) grant (NRF-2013R1A2A2A04008115) funded by the Korea government (MEST). This work was supported by the Brain Busan 21 Project in 2015. SIK was supported by the Bio-Synergy Research Project (NRF-2014M3A9C4066461) of the Ministry of Science, ICT and Future Planning through the National Research Foundation and the Korea Basic Science Institute research program (D35402). NR 34 TC 1 Z9 1 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1226-3613 EI 2092-6413 J9 EXP MOL MED JI Exp. Mol. Med. PD JUL PY 2016 VL 48 AR e246 DI 10.1038/emm.2016.50 PG 10 WC Biochemistry & Molecular Biology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Research & Experimental Medicine GA EE5LG UT WOS:000389648400001 PM 27416782 ER PT J AU Klinger, SC Hojland, A Jain, S Kjolby, M Madsen, P Svendsen, AD Olivecrona, G Bonifacino, JS Nielsen, MS AF Klinger, Stine C. Hojland, Anne Jain, Shweta Kjolby, Mads Madsen, Peder Svendsen, Anna Dorst Olivecrona, Gunilla Bonifacino, Juan S. Nielsen, Morten S. TI Polarized trafficking of the sorting receptor SorLA in neurons and MDCK cells SO FEBS JOURNAL LA English DT Article DE adaptor protein; AP1; cell polarity; epithelial cell; intracellular trafficking; LR11; neurons; SorLA; sorting ID AMYLOID PRECURSOR PROTEIN; CYTOPLASMIC DOMAIN; LIPOPROTEIN-LIPASE; EPITHELIAL-CELLS; HIPPOCAMPAL-NEURONS; STRUCTURAL BASIS; ADIPOSE-TISSUE; SIGNAL; BINDING; MOTIF AB The sorting receptor SorLA is highly expressed in neurons and is also found in other polarized cells. The receptor has been reported to participate in the trafficking of several ligands, some of which are linked to human diseases, including the amyloid precursor protein, TrkB, and Lipoprotein Lipase (LpL). Despite this, only the trafficking in nonpolarized cells has been described so far. Due to the many differences between polarized and nonpolarized cells, we examined the localization and trafficking of SorLA in epithelial Madin-Darby canine kidney (MDCK) cells and rat hippocampal neurons. We show that SorLA is mainly found in sorting endosomes and on the basolateral surface of MDCK cells and in the somatodendritic domain of neurons. This polarized distribution of SorLA respectively depends on an acidic cluster and an extended version of this cluster and involves the cellular adaptor complex AP-1. Furthermore, we show that SorLA can mediate transcytosis across a tight cell layer. C1 [Klinger, Stine C.; Hojland, Anne; Madsen, Peder; Svendsen, Anna Dorst; Nielsen, Morten S.] Aarhus Univ, Lundbeck Fdn Initiat Brain Barriers & Drug Delive, Dept Biomed, Aarhus, Denmark. [Klinger, Stine C.; Hojland, Anne; Kjolby, Mads; Madsen, Peder; Svendsen, Anna Dorst; Nielsen, Morten S.] Aarhus Univ, MIND Ctr, Dept Biomed, Aarhus, Denmark. [Klinger, Stine C.; Jain, Shweta; Bonifacino, Juan S.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cell Biol & Metab Program, NIH, Bethesda, MD USA. [Kjolby, Mads] Aarhus Univ, Danish Diabet Acad, Dept Biomed, Aarhus, Denmark. [Olivecrona, Gunilla] Umea Univ, Physiol Chem, Dept Med Biosci, Umea, Sweden. RP Nielsen, MS (reprint author), Ole Worms Alle 1170, DK-8000 Aarhus, Denmark. EM mn@biomed.au.dk OI Bonifacino, Juan S./0000-0002-5673-6370 FU Alfred Benzon Foundation; Lundbeck Foundation [R108-A10265, R93-A8846]; Lundbeck Foundation Research Initiative on Blood Brain and Drug Delivery; Danish Diabetes Academy; Novo Nordisk Foundation; Intramural Program of NICHD, NIH FX We thank F. Kamakh, N. Mahler, X. Zhu, and N. Tsai for expert technical assistance and T. Ryan and R. Fenton for kind gifts of reagents or cells. The work was supported by the Alfred Benzon Foundation (to SCK), The Lundbeck Foundation (project number R108-A10265 (to SCK) and project number R93-A8846), The Lundbeck Foundation Research Initiative on Blood Brain and Drug Delivery, The Danish Diabetes Academy, Novo Nordisk Foundation (MK) and The Intramural Program of NICHD, NIH. The funders had no role in study design, data collection, and interpretation, or the decision to submit the work for publication. NR 48 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1742-464X EI 1742-4658 J9 FEBS J JI FEBS J. PD JUL PY 2016 VL 283 IS 13 BP 2476 EP 2493 DI 10.1111/febs.13758 PG 18 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DW4GR UT WOS:000383601600007 PM 27192064 ER PT J AU Boikos, SA Pappo, AS Killian, JK LaQuaglia, MP Weldon, CB George, S Trent, JC von Mehren, M Wright, JA Schiffman, JD Raygada, M Pacak, K Meltzer, PS Miettinen, MM Stratakis, C Janeway, KA Helman, LJ AF Boikos, Sosipatros A. Pappo, Alberto S. Killian, J. Keith LaQuaglia, Michael P. Weldon, Chris B. George, Suzanne Trent, Jonathan C. von Mehren, Margaret Wright, Jennifer A. Schiffman, Josh D. Raygada, Margarita Pacak, Karel Meltzer, Paul S. Miettinen, Markku M. Stratakis, Constantine Janeway, Katherine A. Helman, Lee J. TI Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic SO JAMA ONCOLOGY LA English DT Article ID SUCCINATE-DEHYDROGENASE; GERMLINE MUTATIONS; IDH2 MUTATIONS; KIT; PDGFRA; GENES; GIST; GENETICS; IMATINIB; CANCER AB IMPORTANCE Wild-type (WT) gastrointestinal stromal tumors (GISTs), which lack KIT and PDGFRA gene mutations, are the primary form of GIST in children and occasionally occur in adults. They respond poorly to standard targeted therapy. Better molecular and clinical characterization could improve management. OBJECTIVE To evaluate the clinical and tumor genomic features of WT GIST. DESIGN, SETTING, AND PARTICIPANTS Patients enrolled in an observational study at the National Institutes of Health starting in 2008 and were evaluated in a GIST clinic held once or twice yearly. Patients provided access to existing medical records and tumor specimens. Self-referred or physician-referred patients younger than 19 years with GIST or 19 years or older with known WT GIST (no mutations in KIT or PDGFRA) were recruited; 116 patients with WT GIST were enrolled, and 95 had adequate tumor specimen available. Tumors were characterized by immunohistochemical analysis (IHC) for succinate dehydrogenase (SDH) subunit B, sequencing of SDH genes, and determination of SDHC promoter methylation. Testing of germline SDH genes was offered to consenting patients and families. MAIN OUTCOMES AND MEASURES For classification, tumors were characterized by SDHA, B, C, or D (SDHX) mutations and other genetic and epigenetic alterations, including presence of mutations in germline. Clinical characteristics were categorized. RESULTS Wild-type GIST specimens from 95 patients (median age, 23 [range, 7-78] years; 70% female) were classified into 3 molecular subtypes: SDH-competent (n = 11), defined by detection of SDHB by IHC; and 2 types of SDH-deficient GIST (n = 84). Of SDH-deficient tumors, 63 (67%) had SDH mutations, and in 31 of 38 (82%), the SDHX mutation was also present in germline. Twenty-one (22%) SDH-deficient tumors had methylation of the SDHC promoter leading to silencing of expression. Mutations in known cancer-associated pathways were identified in 9 of 11 SDH-competent tumors. Among patients with SDH-mutant tumors, 62% were female (39 of 63), median (range) age was 23 (7-58) years, and approximately 30% presented with metastases (liver [12 of 58], peritoneal [6 of 58], lymph node [15 of 23]). SDHC-epimutant tumors mostly affected young females (20 of 21; median [range] age, 15 [8-50] years), and approximately 40% presented with metastases (liver [7 of 19], peritoneal [1 of 19], lymph node [3 of 8]). SDH-deficient tumors occurred only in the stomach and had an indolent course. CONCLUSIONS AND RELEVANCE An observational study of WT GIST permitted the evaluation of a large number of patients with this rare disease. Three molecular subtypes with implications for prognosis and clinical management were identified. C1 [Boikos, Sosipatros A.; Helman, Lee J.] NCI, Pediat Oncol Branch, Ctr Canc Res, 9000 Rockville Pike,Bldg 31,Room 3A11, Bethesda, MD 20892 USA. [Boikos, Sosipatros A.] Virginia Commonwealth Univ, Massey Canc Ctr, Sarcoma & Rare Tumors Program, Div Hematol Oncol & Palliat Care, Richmond, VA 23284 USA. [Pappo, Alberto S.] St Jude Childrens Res Hosp, Dept Oncol, 332 N Lauderdale St, Memphis, TN 38105 USA. [Killian, J. Keith; Meltzer, Paul S.] NCI, Genet Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [LaQuaglia, Michael P.] Mem Sloan Kettering Canc Ctr, Pediat Surg Serv, 1275 York Ave, New York, NY 10021 USA. [Weldon, Chris B.] Boston Childrens Hosp, Dept Surg, Boston, MA USA. [George, Suzanne] Dana Farber Canc Inst, Ctr Sarcoma & Bone Oncol, Boston, MA 02115 USA. [Trent, Jonathan C.] Univ Miami, Div Hematol Oncol, Dept Med, Sylvester Comprehens Canc Ctr, Miami, FL USA. [von Mehren, Margaret] Fox Chase Canc Ctr, Div Hematol Oncol, 7701 Burholme Ave, Philadelphia, PA 19111 USA. [Wright, Jennifer A.; Schiffman, Josh D.] Huntsman Canc Inst, Pediat Hematol & Oncol, Salt Lake City, UT USA. [Raygada, Margarita] Natl Inst Child Hlth & Human Dev, Div Intramural Res, Bethesda, MD USA. [Pacak, Karel] Natl Inst Child Hlth & Human Dev, Sect Med Neuroendocrinol, Bethesda, MD USA. [Miettinen, Markku M.] NCI, Pathol Lab, Ctr Canc Res, Bethesda, MD 20892 USA. [Stratakis, Constantine] NICHHD, Sect Endocrinol & Genet, Bethesda, MD 20892 USA. [Janeway, Katherine A.] Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA USA. RP Helman, LJ (reprint author), NCI, Pediat Oncol Branch, Ctr Canc Res, 9000 Rockville Pike,Bldg 31,Room 3A11, Bethesda, MD 20892 USA. EM helmanl@nih.gov FU intramural National Cancer Institute (NCI), National Institutes of Health (NIH) FX The study was funded by the intramural National Cancer Institute (NCI), National Institutes of Health (NIH). NR 33 TC 8 Z9 8 U1 0 U2 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2374-2445 J9 JAMA ONCOL JI JAMA Oncol. PD JUL PY 2016 VL 2 IS 7 BP 922 EP 928 DI 10.1001/jamaoncol.2016.0256 PG 7 WC Oncology SC Oncology GA DW5RK UT WOS:000383704300016 PM 27011036 ER PT J AU Ramalingam, TR Gieseck, RL Acciani, TH Hart, KM Cheever, AW Mentink-Kane, MM Vannella, KM Wynn, TA AF Ramalingam, Thirumalai R. Gieseck, Richard L. Acciani, Thomas H. Hart, Kevin M. Cheever, Allen W. Mentink-Kane, Margaret M. Vannella, Kevin M. Wynn, Thomas A. TI Enhanced protection from fibrosis and inflammation in the combined absence of IL-13 and IFN-gamma SO JOURNAL OF PATHOLOGY LA English DT Article DE fibrosis; interleukin 13; interferon; lung; liver; hydroxyproline; collagen; fibroblast; tumour necrosis factor ID IDIOPATHIC PULMONARY-FIBROSIS; SCHISTOSOMA-MANSONI INFECTION; INNATE LYMPHOID-CELLS; HEPATIC-FIBROSIS; INTERFERON-GAMMA; TGF-BETA; TNF-ALPHA; MURINE SCHISTOSOMIASIS; MOLECULAR-MECHANISMS; PERIPORTAL FIBROSIS AB Persistent or dysregulated IL-13 responses are key drivers of fibrosis in multiple organ systems, and this identifies this cytokine as an important therapeutic target. Nevertheless, the mechanisms by which IL-13 blockade leads to the amelioration of fibrosis remain unclear. Because IFN-gamma exhibits potent anti-fibrotic activity, and IL-4R alpha signalling antagonizes IFN-gamma effector function, compensatory increases in IFN-gamma activity following IL-13/IL-4R alpha blockade might contribute to the reduction in fibrosis. To investigate the role of IFN-gamma, we developed novel IL-13(-/-)/IFN-gamma(-/-) double cytokine-deficient mice and examined disease progression in models of type 2-driven fibrosis. As predicted, we showed that fibrosis in the lung and liver are both highly dependent on IL-13. We also observed increased IFN-gamma production and inflammatory activity in the tissues of IL-13-deficient mice. Surprisingly, however, an even greater reduction in fibrosis was observed in IL-13/IFN-gamma double deficient mice, most notably in the livers of mice chronically infected with Schistosoma mansoni. The increased protection was associated with marked decreases in Tgfb1, Mmp12, and Timp1 mRNA expression in the tissues; reduced inflammation; and decreased expression of important pro-inflammatory mediators such as TNF-alpha. Experiments conducted with neutralizing monoclonal antibodies to IL-13 and IFN-gamma validated the findings with the genetically deficient mice. Together, these studies demonstrate that the reduction in fibrosis observed when IL-13 signalling is suppressed is not dependent on increased IFN-gamma activity. Instead, by reducing compensatory increases in type 1-associated inflammation, therapeutic strategies that block IFN-gamma and IL-13 activity simultaneously can confer greater protection from progressive fibrosis than IL-13 blockade alone. Published 2016. This article is a U.S. Government work and is in the public domain in the USA. C1 [Ramalingam, Thirumalai R.; Gieseck, Richard L.; Acciani, Thomas H.; Hart, Kevin M.; Cheever, Allen W.; Vannella, Kevin M.; Wynn, Thomas A.] NIAID, Parasit Dis Lab, Bethesda, MD USA. [Mentink-Kane, Margaret M.] Biomed Res Inst, Rockville, MD 20852 USA. RP Wynn, TA (reprint author), NIAID, Immunopathogenesis Sect, Parasit Dis Lab, NIH,DHHS, 4 Mem Dr,Rm 211C, Bethesda, MD 20892 USA. EM twynn@niaid.nih.gov FU NIAID/NIH; NIH-NIAID [HHSN272201000005I] FX This work was supported by the intramural program of NIAID/NIH. Schistosome-infected mice were provided by the NIAID Schistosomiasis Resource Center at the Biomedical Research Institute (Rockville, MD, USA) through NIH-NIAID Contract HHSN272201000005I for distribution through BEI Resources. This work is dedicated to the memory of Dr Allen W Cheever, who passed away during the preparation of this paper. NR 59 TC 2 Z9 2 U1 19 U2 19 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3417 EI 1096-9896 J9 J PATHOL JI J. Pathol. PD JUL PY 2016 VL 239 IS 3 BP 344 EP 354 DI 10.1002/path.4733 PG 11 WC Oncology; Pathology SC Oncology; Pathology GA DW4EC UT WOS:000383594300010 PM 27125685 ER PT J AU Pilotto, A Gallina, P Copetti, M Pilotto, A Marcato, F Mello, AM Simonato, M Logroscino, G Padovani, A Ferrucci, L Panza, F AF Pilotto, Alberto Gallina, Pietro Copetti, Massimiliano Pilotto, Andrea Marcato, Francesco Mello, Anna M. Simonato, Matteo Logroscino, Giancarlo Padovani, Alessandro Ferrucci, Luigi Panza, Francesco CA Multidimensional Prognostic TI Warfarin Treatment and All-Cause Mortality in Community-Dwelling Older Adults with Atrial Fibrillation: A Retrospective Observational Study SO JOURNAL OF THE AMERICAN GERIATRICS SOCIETY LA English DT Article DE atrial fibrillation; all-cause mortality; warfarin; aging; frailty; multidimensional prognostic index ID MULTIDIMENSIONAL PROGNOSTIC INDEX; RISK STRATIFICATION SCHEMES; STROKE PREVENTION; ANTITHROMBOTIC THERAPY; ELDERLY-PATIENTS; GERIATRIC ASSESSMENT; PREDICTING STROKE; GENERAL-PRACTICE; ANTICOAGULATION; MANAGEMENT AB OBJECTIVES: To investigate the relationship between warfarin treatment and different strata of all-cause mortality risk assessed using the Multidimensional Prognostic Index (MPI) based on information collected using the Standardized Multidimensional Assessment Schedule for Adults and Aged Persons (SVaMA) in community-dwelling older adults with atrial fibrillation (AF). DESIGN: Retrospective observational study. SETTING: Older community-dwelling adults who underwent a SVaMA evaluation establishing accessibility to homecare services and nursing home admission from 2005 to 2013 in the Padova Health District, Italy. PARTICIPANTS: Community-dwelling individuals with AF aged 65 and older (N = 1,827). MEASUREMENTS: Participants were classified as being at mild (MPI-SVaMA-1), moderate (MPI-SVaMA-2), or severe (MPI-SVaMA-3) risk of mortality using the MPI-SVaMA, a validated prognostic tool based on age, sex, comorbidity, cognitive status, mobility and functional disability, pressure sore risk, and social support. The association between warfarin treatment and mortality was tested using multivariate-and propensity score-adjusted Cox regression models, controlling for age, sex, all SVaMA domains, concomitant diseases, and drug treatments. RESULTS: Higher MPI-SVaMA scores were associated with lower rates of warfarin treatment and higher 3-year mortality. After adjustment for propensity score quintiles, warfarin treatment was significantly associated with lower 2-year mortality in individuals with MPI-SVaMA-1 (hazard ratio (HR) = 0.64, 95% confidence interval (CI) = 0.50-0.82), MPI-SVaMA-2 (HR = 0.68, 95% CI = 0.55-0.85), and MPI-SVaMA-3 (HR = 0.55, 95% CI = 0.44-0.67). Heterogeneity analyses confirmed that the effect of warfarin treatment was not different between MPI-SVaMA groups (P for heterogeneity = .48). CONCLUSION: Community-dwelling older adults with AF benefitted from anticoagulation in terms of lower all-cause mortality over a mean follow-up of 2 years, regardless of poor health and functional condition. Although this benefit can be ascribed to the treatment, it may also reflect better overall care. C1 [Pilotto, Alberto; Mello, Anna M.] EO Galliera Hosp Natl Relevance & High Specializa, Frailty Area, Dept Geriatr Care Orthogeriatr & Rehabil, Genoa, Italy. [Gallina, Pietro; Marcato, Francesco; Simonato, Matteo] S Antonio Hosp, Azienda Unita Locale Socio Sanitaria Padova 16, Padua, Italy. [Copetti, Massimiliano; Panza, Francesco] Ist Ricovero & Cura Carattere Sci Casa Sollievo S, Unit Biostat, Foggia, Italy. [Pilotto, Andrea; Padovani, Alessandro] Univ Brescia, Neurol Clin, Brescia, Italy. [Logroscino, Giancarlo; Panza, Francesco] Univ Bari Aldo Moro, Dept Basic Med Neurosci & Sense Organs, Neurodegenerat Dis Unit, Bari, Italy. [Logroscino, Giancarlo] Univ Bari Aldo Moro, Dept Clin Res Neurol, Lecce, Italy. [Ferrucci, Luigi] NIA, Baltimore, MD 21224 USA. RP Pilotto, A (reprint author), EO Galliera Hosp, NR HS, Frailty Area, Dept Geriatr Care Orthogeriatr & Rehabil, Mura Cappuccine 14, I-16128 Genoa, Italy. EM alberto.pilotto@galliera.it RI LOGROSCINO, GIANCARLO/K-5148-2016; Trifiro, Gianluca/K-9744-2016; Fontana, Andrea/J-8584-2016; OI LOGROSCINO, GIANCARLO/0000-0003-0423-3242; Trifiro, Gianluca/0000-0003-1147-7296; Fontana, Andrea/0000-0002-6660-5315; Panza, Francesco/0000-0002-7220-0656; Pilotto, Andrea/0000-0003-2029-6606 FU MPI_Age European project; Executive Agency for Health and Consumers of the European Innovation Partnership on Active and Healthy Ageing Second Health Programme FX Funding for this study was provided by the MPI_Age European project, cofunded by the Executive Agency for Health and Consumers of the European Innovation Partnership on Active and Healthy Ageing Second Health Programme 2008-2013. NR 48 TC 1 Z9 1 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0002-8614 EI 1532-5415 J9 J AM GERIATR SOC JI J. Am. Geriatr. Soc. PD JUL PY 2016 VL 64 IS 7 BP 1416 EP 1424 DI 10.1111/jgs.14221 PG 9 WC Geriatrics & Gerontology; Gerontology SC Geriatrics & Gerontology GA DW3NN UT WOS:000383548400005 PM 27295351 ER PT J AU Wang, SM Fan, JH Jia, MM Yang, Z Zhang, YQ Qiao, YL Taylor, PR AF Wang, Shao-Ming Fan, Jin-Hu Jia, Meng-Meng Yang, Zhao Zhang, Yu-Qing Qiao, You-Lin Taylor, Philip R. TI Body mass index and long-term risk of death from esophageal squamous cell carcinoma in a Chinese population SO THORACIC CANCER LA English DT Article DE Body mass index (BMI); Chinese population; esophageal squamous cell carcinoma (ESCC); overweight; underweight ID GASTRIC CANCERS; FOLLOW-UP; MORTALITY; OBESITY; ADENOCARCINOMA; METAANALYSIS; NUTRITION; LINXIAN; MEN; SUPPLEMENTATION AB Background: Studies based on Western populations have found that body mass index (BMI) is positively related to the risk of esophageal adenocarcinoma but inversely associated with esophageal squamous cell carcinoma (ESCC). Little reliable evidence exists of an association between BMI and ESCCin China, where ESCC incidence is high but BMI is low. Methods: We evaluated the BMI-ESCC association in a population-based prospective study of 29 446 Chinese aged 40-69 with 27 years of follow-up. China-specific BMI cut-offs (underweight < 18.5, healthy >= 18.5 to <24, overweight >= 24 to <28, and obese >= 28) and quartile categories were used to define BMI subgroups. Adjusted hazard ratios (HRs) and confidence intervals (CIs) for death from ESCC by BMI subgroups were calculated using Cox proportional hazards models. Results: During a median follow-up duration of 21.2 years (555 439 person-years), 2436 ESCC deaths were identified. BMI was protective for death from ESCC with an HR of 0.97 (95% CI 0.95-0.99) for each unit increase in BMI. Relative to healthy weight, HRs for BMI were 1.21 (95% CI 1.02-1.43) for the underweight group and 0.87 (95% CI 0.78-0.98) for the overweight. Categorical quartile analyses found people with BMIs in the Q3 and Q4 groups had 16% and 13% reductions in the risk of ESCC, respectively. Gender-specific analyses found that clear effects were evident in women only. Conclusions: Higher BMI was associated with a reduced risk of ESCC in a Chinese population. C1 [Wang, Shao-Ming; Fan, Jin-Hu; Jia, Meng-Meng; Yang, Zhao; Zhang, Yu-Qing; Qiao, You-Lin] Chinese Acad Med Sci, Canc Inst Hosp, 17 South Panjiayuan Lane,POB 2258, Beijing 100021, Peoples R China. [Wang, Shao-Ming; Fan, Jin-Hu; Jia, Meng-Meng; Yang, Zhao; Zhang, Yu-Qing; Qiao, You-Lin] Peking Union Med Coll, 17 South Panjiayuan Lane,POB 2258, Beijing, Peoples R China. [Taylor, Philip R.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. RP Qiao, YL (reprint author), Chinese Acad Med Sci, Canc Inst Hosp, 17 South Panjiayuan Lane,POB 2258, Beijing 100021, Peoples R China.; Qiao, YL (reprint author), Peking Union Med Coll, 17 South Panjiayuan Lane,POB 2258, Beijing, Peoples R China. EM qiaoy@cicams.ac.cn OI Qiao, You-Lin/0000-0001-6380-0871 FU US National Cancer Institute [HHSN261201200034C]; [2013JKB01] FX This study was funded by a US National Cancer Institute contract (HHSN261201200034C) to the Cancer Hospital/ Institute, Chinese Academy of Medical Sciences and a basic research grant (2013JKB01) to the Cancer Hospital/Institute, Chinese Academy of Medical Sciences. NR 23 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1759-7706 EI 1759-7714 J9 THORAC CANCER JI Thorac. Cancer PD JUL PY 2016 VL 7 IS 4 BP 387 EP 392 DI 10.1111/1759-7714.12340 PG 6 WC Oncology; Respiratory System SC Oncology; Respiratory System GA DW5YY UT WOS:000383724800002 PM 27385979 ER PT J AU Cansu, GB Taskiran, B Trivellin, G Faucz, FR Stratakis, CA AF Cansu, Guven Baris Taskiran, Bengur Trivellin, Giampaolo Faucz, Fabio R. Stratakis, Constantine A. TI A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred SO HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM LA English DT Article DE AIP mutation; Familial isolated pituitary adenoma; Gigantism ID GENE AB Familial isolated pituitary adenomas (FIPA) constitute 2-3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a novel germline mutation of the AIP gene in a family with FIPA. We present two patients, a father and his 12-year-old daughter, diagnosed clinically and using laboratory measures with acromegaly-gigantism. Both underwent transsphenoidal hypophyseal surgery for macroadenomas. We initially detected a novel heterozygous germline AIP mutation, c.836G> A (p.W279*), in the father's DNA. We then found the same mutation in his affected daughter. Pituitary adenomas associated with AIP mutations mostly present as FIPA (68%) at an early age (78% occur at <30 years old). They are often growth hormone (GH) - or prolactin - secreting macroadenomas (88%) that have already extended beyond the sella at the time of diagnosis. Acromegalic cases are resistant to somatostatin analogues and multimodal management is frequently essential to control the disease. Our patients had normalized GH/IGF-1 values soon after surgery, although enough time may not have elapsed to reach final cure. While penetrance of the disease can be as low as 10% in FIPA, especially children and young patients with somatotropinoma and prolactinoma should be surveyed for inactivating mutations or deletions in AIP. Determining the causative mutations may be of assistance in early diagnosis, treatment success, and genetic counseling. C1 [Cansu, Guven Baris; Taskiran, Bengur] Yunus Emre State Hosp, Div Endocrinol & Metab, Uluonder Mah Salih Bozok Cad 23, TR-26190 Tepebasi, Eskisehir, Turkey. [Trivellin, Giampaolo; Faucz, Fabio R.; Stratakis, Constantine A.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, NIH, Bethesda, MD 20892 USA. RP Cansu, GB (reprint author), Yunus Emre State Hosp, Div Endocrinol & Metab, Uluonder Mah Salih Bozok Cad 23, TR-26190 Tepebasi, Eskisehir, Turkey. EM bcansu74@hotmail.com OI Trivellin, Giampaolo/0000-0003-2384-4153; Cansu, Guven Baris/0000-0003-2606-1103 FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA [Z01-HD008920] FX This study was supported by the research project Z01-HD008920 (Principal Investigator: Dr. Constantine A. Stratakis) of the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA. NR 12 TC 0 Z9 0 U1 0 U2 0 PU HELLENIC ENDOCRINE SOC PI ATHENS PA 14 ALEXANDRAS AVE, ATHENS, 106 82, GREECE SN 1109-3099 J9 HORM-INT J ENDOCRINO JI Horm.-Int. J. Endocrinol. Metab. PD JUL-SEP PY 2016 VL 15 IS 3 BP 441 EP 444 DI 10.14310/horm.2002.1692 PG 4 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA EA8JQ UT WOS:000386881500012 PM 27838609 ER PT J AU Markantes, GK Theodoropoulou, A Armeni, AK Vasileiou, V Stratakis, CA Georgopoulos, NA AF Markantes, Georgios K. Theodoropoulou, Anastasia Armeni, Anastasia K. Vasileiou, Vasiliki Stratakis, Constantine A. Georgopoulos, Neoklis A. TI Cyclopes and Giants: From Homer's Odyssey to contemporary genetic diagnosis SO HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM LA English DT Article DE Acromegaly; Cyclops gigantism; Familial Isolated Pituitary Adenoma; Hemianopia; Homer; Odysseus; Pituitary adenoma ID PITUITARY-ADENOMA PREDISPOSITION; AIP GENE; MUTATIONS; GIGANTISM; FEATURES; DISEASE; GROWTH C1 [Markantes, Georgios K.; Theodoropoulou, Anastasia; Armeni, Anastasia K.; Georgopoulos, Neoklis A.] Univ Patras, Sch Med, Dept Obstet & Gynecol, Div Reprod Endocrinol, Patras, Greece. [Vasileiou, Vasiliki] Alexandra Hosp, Ctr Diabet, Dept Endocrinol 1, Athens, Greece. [Stratakis, Constantine A.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, NIH, Bethesda, MD USA. RP Georgopoulos, NA (reprint author), Univ Patras, Sch Med, Div Reprod Endocrinol, Dept Obstet & Gynecol, Rion 26500, Greece. EM neoklisg@hol.gr NR 21 TC 0 Z9 0 U1 0 U2 0 PU HELLENIC ENDOCRINE SOC PI ATHENS PA 14 ALEXANDRAS AVE, ATHENS, 106 82, GREECE SN 1109-3099 J9 HORM-INT J ENDOCRINO JI Horm.-Int. J. Endocrinol. Metab. PD JUL-SEP PY 2016 VL 15 IS 3 BP 459 EP 463 DI 10.14310/horm.2002.1687 PG 5 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA EA8JQ UT WOS:000386881500015 PM 27394709 ER PT J AU Ahluwalia, A Gladwin, M Coleman, GD Hord, N Howard, G Kim-Shapiro, DB Lajous, M Larsen, FJ Lefer, DJ McClure, LA Nolan, BT Pluta, R Schechter, A Wang, CY Ward, MH Harman, JL AF Ahluwalia, Amrita Gladwin, Mark Coleman, Gary D. Hord, Norman Howard, George Kim-Shapiro, Daniel B. Lajous, Martin Larsen, Filip J. Lefer, David J. McClure, Leslie A. Nolan, Bernard T. Pluta, Ryszard Schechter, Alan Wang, Chia-Yih Ward, Mary H. Harman, Jane L. TI Dietary Nitrate and the Epidemiology of Cardiovascular Disease: Report From a National Heart, Lung, and Blood Institute Workshop SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE national registry; nitrate; nitric oxide; nutrition ID N-NITROSO COMPOUNDS; PRESERVED EJECTION FRACTION; VIVO ISCHEMIA-REPERFUSION; NITRIC-OXIDE SYNTHASE; GASTRIC-CANCER RISK; INORGANIC NITRATE; VEGETABLE INTAKE; ENDOGENOUS NITROSATION; DRINKING-WATER; IN-VIVO C1 [Ahluwalia, Amrita] Queen Mary Univ London, William Harvey Res Inst, Barts & London Med Sch, London, England. [Gladwin, Mark] Univ Pittsburgh, Vasc Med Inst, Pittsburgh, PA USA. [Coleman, Gary D.] Univ Maryland, College Pk, MD 20742 USA. [Hord, Norman] Oregon State Univ, Corvallis, OR 97331 USA. [Howard, George] Univ Alabama Birmingham, Birmingham, AL USA. [Kim-Shapiro, Daniel B.] Wake Forest Univ, Winston Salem, NC 27109 USA. [Lajous, Martin] Nacl Salud Publ Mexico, Mexico, Albania. [Larsen, Filip J.] Karolinska Inst, Stockholm, Sweden. [Lefer, David J.] Louisiana State Univ, Hlth Sci Ctr, New Orleans, LA USA. [McClure, Leslie A.] Drexel Univ, Dornsife Sch Publ Hlth, Philadelphia, PA 19104 USA. [Nolan, Bernard T.] US Geol Survey, 959 Natl Ctr, Reston, VA 22092 USA. [Pluta, Ryszard] NINDS, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Schechter, Alan] NIDDKD, Bethesda, MD USA. [Wang, Chia-Yih] CDC, Natl Ctr Hlth Stat, Hyattsville, MD USA. [Ward, Mary H.] NCI, Rockville, MD USA. [Harman, Jane L.] NHLBI, Div Cardiovasc Sci, Bldg 10, Bethesda, MD 20892 USA. RP Ahluwalia, A (reprint author), Queen Mary Univ London, William Harvey Res Inst, Charterhouse Sq, London EC1M 6BQ, England. EM a.ahluwalia@qmul.ac.uk FU National Heart, Lung, and Blood Institute FX The workshop was convened and funded by the National Heart, Lung, and Blood Institute. NR 120 TC 0 Z9 0 U1 4 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003402 DI 10.1161/JAHA.116.003402 PG 10 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800029 ER PT J AU Bulluck, H Rosmini, S Abdel-Gadir, A White, SK Bhuva, AN Treibel, TA Fontana, M Gonzalez-Lopez, E Reant, P Ramlall, M Hamarneh, A Sirker, A Herrey, AS Manisty, C Yellon, DM Kellman, P Moon, JC Hausenloy, DJ AF Bulluck, Heerajnarain Rosmini, Stefania Abdel-Gadir, Amna White, Steven K. Bhuva, Anish N. Treibel, Thomas A. Fontana, Marianna Gonzalez-Lopez, Esther Reant, Patricia Ramlall, Manish Hamarneh, Ashraf Sirker, Alex Herrey, Anna S. Manisty, Charlotte Yellon, Derek M. Kellman, Peter Moon, James C. Hausenloy, Derek J. TI Automated Extracellular Volume Fraction Mapping Provides Insights Into the Pathophysiology of Left Ventricular Remodeling Post-Reperfused ST-Elevation Myocardial Infarction SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE extracellular volume fraction; left ventricular remodeling; ST-segment elevation myocardial infarction; T1 mapping; T2 mapping ID CARDIOVASCULAR MAGNETIC-RESONANCE; MICROVASCULAR OBSTRUCTION; T2 QUANTIFICATION; HEART-ASSOCIATION; TASK-FORCE; SALVAGE; CMR; MORTALITY; EDEMA; SIZE AB Background-Whether the remote myocardium of reperfused ST-segment elevation myocardial infarction (STEMI) patients plays a part in adverse left ventricular (LV) remodeling remains unclear. We aimed to use automated extracellular volume fraction (ECV) mapping to investigate whether changes in the ECV of the remote (ECVRemote) and infarcted myocardium (ECVInfarct) impacted LV remodeling. Methods and Results-Forty-eight of 50 prospectively recruited reperfused STEMI patients completed a cardiovascular magnetic resonance at 4 +/- 2 days and 40 had a follow-up scan at 5 +/- 2 months. Twenty healthy volunteers served as controls. Mean segmental values for native T1, T2, and ECV were obtained. Adverse LV remodeling was defined as >= 20% increase in LV end-diastolic volume. ECVRemote was higher on the acute scan when compared to control (27.9 +/- 2.1% vs 26.4 +/- 2.1%; P=0.01). Eight patients developed adverse LV remodeling and had higher ECVRemote acutely (29.5 +/- 1.4% vs 27.4 +/- 2.0%; P=0.01) and remained higher at follow-up (28.6 +/- 1.5% vs 26.6 +/- 2.1%; P=0.02) compared to those without. Patients with a higher ECVRemote and a lower myocardial salvage index (MSI) acutely were significantly associated with adverse LV remodeling, independent of T1(Remote), T1(Core) and microvascular obstruction, whereas a higher ECVInfarct was significantly associated with worse wall motion recovery. Conclusions-ECVRemote was increased acutely in reperfused STEMI patients. Those with adverse LV remodeling had higher ECVRemote acutely, and this remained higher at follow-up than those without adverse LV remodeling. A higher ECVRemote and a lower MSI acutely were significantly associated with adverse LV remodeling whereas segments with higher ECVInfarct were less likely to recover wall motion. C1 [Bulluck, Heerajnarain; White, Steven K.; Ramlall, Manish; Hamarneh, Ashraf; Yellon, Derek M.; Hausenloy, Derek J.] UCL, Inst Cardiovasc Sci, Hatter Cardiovasc Inst, London, England. [Bulluck, Heerajnarain; White, Steven K.; Ramlall, Manish; Hamarneh, Ashraf; Sirker, Alex; Yellon, Derek M.; Moon, James C.; Hausenloy, Derek J.] UCL, Hosp Biomed Res Ctr, Natl Inst Hlth Res, London, England. [Bulluck, Heerajnarain; Rosmini, Stefania; Abdel-Gadir, Amna; White, Steven K.; Bhuva, Anish N.; Treibel, Thomas A.; Fontana, Marianna; Ramlall, Manish; Hamarneh, Ashraf; Sirker, Alex; Herrey, Anna S.; Manisty, Charlotte; Moon, James C.; Hausenloy, Derek J.] St Bartholomews Hosp, Barts Heart Ctr, London, England. [Gonzalez-Lopez, Esther] Hosp Univ Puerta de Hierro Majadahonda, Madrid, Spain. [Reant, Patricia] Univ Bordeaux, CHU Bordeaux, Bordeaux, France. [Kellman, Peter] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. [Hausenloy, Derek J.] Duke Natl Univ Singapore, Cardiovasc & Metab Disorders Program, Singapore, Singapore. [Hausenloy, Derek J.] Natl Heart Ctr Singapore, Natl Heart Res Inst Singapore, Singapore, Singapore. RP Hausenloy, DJ (reprint author), Duke NUS Grad Med Sch Singapore, Cardiovasc & Metab Dis Program, 8 Coll Rd, Singapore 169857, Singapore. EM derek.hausenloy@duke-nus.edu.sg OI Hamarneh, Ashraf/0000-0002-9489-4476; Bulluck, Heerajnarain/0000-0002-1985-1783 FU British Heart Foundation [FS/10/039/28270]; Rosetrees Trust; National Institute for Health Research University College London Hospitals Biomedical Research Center FX This work was supported by the British Heart Foundation (FS/10/039/28270), the Rosetrees Trust, and the National Institute for Health Research University College London Hospitals Biomedical Research Center NR 34 TC 2 Z9 2 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003555 DI 10.1161/JAHA.116.003555 PG 11 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800045 ER PT J AU Dember, LM Imrey, PB Duess, MA Hamburg, NM Larive, B Radeva, M Himmelfarb, J Kraiss, LW Kusek, JW Roy-Chaudhury, P Terry, CM Vazquez, MA Vongpatanasin, W Beck, GJ Vita, JA AF Dember, Laura M. Imrey, Peter B. Duess, Mai-Ann Hamburg, Naomi M. Larive, Brett Radeva, Milena Himmelfarb, Jonathan Kraiss, Larry W. Kusek, John W. Roy-Chaudhury, Prabir Terry, Christi M. Vazquez, Miguel A. Vongpatanasin, Wanpen Beck, Gerald J. Vita, Joseph A. CA Hemodialysis Fistula Maturation St TI Vascular Function at Baseline in the Hemodialysis Fistula Maturation Study SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE chronic kidney disease; end-stage renal disease; flow-mediated dilation; nitroglycerin-mediated dilation; pulse wave velocity; vascular function; venous occlusion plethysmography ID FLOW-MEDIATED DILATION; STAGE RENAL-DISEASE; PULSE-WAVE VELOCITY; DEPENDENT DIABETES-MELLITUS; ARTERIAL STIFFNESS; PROGNOSTIC-SIGNIFICANCE; CARDIOVASCULAR RESEARCH; ARTERIOVENOUS-FISTULA; ENDOTHELIAL FUNCTION; AORTIC STIFFNESS AB Background-End-stage renal disease is accompanied by functional and structural vascular abnormalities. The objective of this study was to characterize vascular function in a large cohort of patients with end-stage renal disease, using noninvasive physiological measurements, and to correlate function with demographic and clinical factors. Methods and Results-We analyzed cross-sectional baseline data from the Hemodialysis Fistula Maturation Study, a multicenter prospective observational cohort study of 602 patients with end-stage renal disease from 7 centers. Brachial artery flow-and nitroglycerin-mediated dilation, carotid-femoral and -radial pulse wave velocity, and venous occlusion plethysmography were performed prior to arteriovenous fistula creation. Relationships of these vascular function measures with demographic, clinical, and laboratory factors were evaluated using linear mixed-effects models. Arterial function, as assessed by flow-and nitroglycerin-mediated dilation and carotid-femoral pulse wave velocity, worsened with increasing age and diabetes mellitus. Venous capacitance decreased with diabetes mellitus but not with age. Flow-mediated dilation was higher among patients undergoing maintenance dialysis than for those at predialysis, and a U-shaped relationship between serum phosphorus concentration and flow-mediated dilation was evident. Partial correlations among different measures of vascular function, adjusting for demographic factors, diabetes mellitus, and clinical center, were modest or essentially nonexistent. Conclusions-Multiple demographic and clinical factors were associated with the functions of vessels of different sizes and types in this large cohort of patients with end-stage renal disease. Low correlations between the different measures, controlling for demographic factors, diabetes mellitus, and center, indicated that these different types of vascular function otherwise vary heterogeneously across patients. C1 [Dember, Laura M.] Univ Penn, Perelman Sch Med, 920 Blockley Hall,423 Guardian Dr, Philadelphia, PA 19104 USA. [Imrey, Peter B.; Larive, Brett; Radeva, Milena; Beck, Gerald J.] Case Western Reserve Univ, Dept Quantitat Hlth Sci, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA. [Duess, Mai-Ann; Hamburg, Naomi M.; Vita, Joseph A.] Boston Univ, Sch Med, Boston, MA 02118 USA. [Himmelfarb, Jonathan] Univ Washington, Seattle, WA 98195 USA. [Kraiss, Larry W.; Terry, Christi M.] Univ Utah, Salt Lake City, UT USA. [Kusek, John W.] NIDDKD, Bethesda, MD USA. [Roy-Chaudhury, Prabir] Univ Arizona, Tucson, AZ USA. [Vazquez, Miguel A.; Vongpatanasin, Wanpen] Univ Texas Southwestern, Dallas, TX USA. RP Dember, LM (reprint author), Univ Penn, Renal Electrolyte & Hypertens Div, Ctr Clin Epidemiol & Biostat, Perelman Sch Med, 920 Blockley Hall,423 Guardian Dr, Philadelphia, PA 19104 USA. EM ldember@upenn.edu FU National Institute of Diabetes and Digestive and Kidney Diseases [U01DK066597, U01DK082179, U01DK082189, U01DK082218, U01DK082222, U01DK082232, U01DK082236, U01DK082240] FX The Hemodialysis Fistula Maturation Study was funded by grants U01DK066597, U01DK082179, U01DK082189, U01DK082218, U01DK082222, U01DK082232, U01DK082236, and U01DK082240 from the National Institute of Diabetes and Digestive and Kidney Diseases. NR 33 TC 1 Z9 1 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003227 DI 10.1161/JAHA.116.003227 PG 26 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800019 ER PT J AU Haring, R Enserro, D Xanthakis, V Mitchell, GF Benjamin, EJ Hamburg, NM Sullivan, L Nauck, M Wallaschofski, H Vasan, RS AF Haring, Robin Enserro, Danielle Xanthakis, Vanessa Mitchell, Gary F. Benjamin, Emelia J. Hamburg, Naomi M. Sullivan, Lisa Nauck, Matthias Wallaschofski, Henri Vasan, Ramachandran S. TI Plasma Fibroblast Growth Factor 23: Clinical Correlates and Association With Cardiovascular Disease and Mortality in the Framingham Heart Study SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE cardiovascular disease risk factors; epidemiology; metabolism; mineral ID CHRONIC KIDNEY-DISEASE; CORONARY-ARTERY-DISEASE; MINERAL METABOLISM; PARATHYROID-HORMONE; ELDERLY-MEN; COMMUNITY; EVENTS; PHOSPHORUS; FGF-23; RISK AB Background-Fibroblast growth factor 23 (FGF23) is emerging as a novel biomarker of bone metabolism, chronic kidney disease, and cardiovascular disease (CVD). However, its clinical correlates and potential predictive role in a community-based setting are incompletely understood. Methods and Results-We evaluated participants of the Framingham Heart Study (seventh examination cycle of the Offspring cohort plus second examination cycle of the multiethnic Omni cohort) to identify clinical correlates of plasma FGF23 (N=3236) and examine its cross-sectional association with vascular function (N=2209), and longitudinal association with 10-year incidence of CVD (N=2823), and all-cause mortality (N=3223). Circulating FGF23 concentrations were positively related to African-American and Asian ethnicity, waist circumference, current smoking, serum glucose, history of CVD, and antihypertensive medication use; and negatively related to male sex, hormone replacement therapy, and estimated glomerular filtration rate. Multivariable-adjusted cross-sectional analyses showed no consistent association of FGF23 with vascular function measures. During a median follow-up time of 10.8 years, 347 incident CVD events and 412 deaths occurred. Multivariable-adjusted Cox regression models revealed a positive association of FGF23 with all-cause mortality (hazard ratio [HR] per SD increase, 1.31; 95% CI, 1.20-1.42), but not with incident CVD (HR per SD increase, 1.05; 95% CI, 0.94-1.17). Conclusions-In our large, community-based sample, FGF23 was associated with mortality risk, but not with vascular function or incident CVD. C1 [Haring, Robin; Xanthakis, Vanessa; Benjamin, Emelia J.; Vasan, Ramachandran S.] Boston Univ, Sch Med, Prevent Med & Epidemiol Sect, Boston, MA 02118 USA. [Benjamin, Emelia J.; Hamburg, Naomi M.; Vasan, Ramachandran S.] Boston Univ, Sch Med, Evans Dept Med, Cardiol Sect, Boston, MA 02118 USA. [Haring, Robin] European Univ Appl Sci, Fac Appl Publ Hlth, Rostock, Germany. [Enserro, Danielle; Sullivan, Lisa] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA. [Benjamin, Emelia J.; Vasan, Ramachandran S.] Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02215 USA. [Xanthakis, Vanessa; Benjamin, Emelia J.; Vasan, Ramachandran S.] NHLBI, Framingham, MA USA. [Xanthakis, Vanessa; Benjamin, Emelia J.; Vasan, Ramachandran S.] Boston Univ, Framingham Heart Study, Framingham, MA USA. [Mitchell, Gary F.] Cardiovasc Engn Inc, Norwood, MA USA. [Nauck, Matthias; Wallaschofski, Henri] Univ Med Greifswald, Inst Clin Chem & Lab Med, Ferdinand Sauerbruch Str, D-17475 Greifswald, Germany. [Nauck, Matthias] German Ctr Cardiovasc Res DZHK eV Partner Site Gr, Greifswald, Germany. RP Haring, R (reprint author), Univ Med Greifswald, Inst Clin Chem & Lab Med, Ferdinand Sauerbruch Str, D-17475 Greifswald, Germany. EM robin.haring@uni-greifswald.de FU Framingham Heart Study [HHSN268201500001I, 1R01HL60040, 1RO1HL70100, N01-HC-25195] FX The Framingham Heart Study is funded National Heart, Lung, and Blood Institute (N01-HC-25195, HHSN268201500001I, 1R01HL60040, 1RO1HL70100). NR 42 TC 0 Z9 0 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003486 DI 10.1161/JAHA.116.003486 PG 14 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800038 ER PT J AU Kaess AF Kaess TI Circulating Brain-Derived Neurotrophic Factor Concentrations and the Risk of Cardiovascular Disease in the Community (vol 4, e001544, 2015) SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Correction C1 NHLBI, Framingham Heart Study, Framingham, MA USA. NR 1 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e002098 DI 10.1161/JAHA.116.002098 PG 1 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800005 ER PT J AU Kaess AF Kaess TI Relations of Central Hemodynamics and Aortic Stiffness with Left Ventricular Structure and Function: The Framingham Heart Study (vol 5, e002693, 2016) SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Correction C1 NHLBI, Framingham Heart Study, Framingham, MA USA. NR 1 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e002100 DI 10.1161/JAHA.116.002100 PG 1 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800006 ER PT J AU Lin, GM Redline, S Klein, R Colangelo, LA Cotch, MF Wong, TY Klein, BEK Patel, SR Shea, SJ Liu, K AF Lin, Gen-Min Redline, Susan Klein, Ronald Colangelo, Laura A. Cotch, Mary Frances Wong, Tien Y. Klein, Barbara E. K. Patel, Sanjay R. Shea, Steven J. Liu, Kiang TI Sex-Specific Association of Obstructive Sleep Apnea With Retinal Microvascular Signs: The Multi-Ethnic Study of Atherosclerosis SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE apnea-hypopnea index; epidemiology; microvascular dysfunction; obstructive sleep apnea; retinal vascular calibers; retinopathy; sex-specific ID CARDIOVASCULAR-DISEASE; DIABETIC-RETINOPATHY; VASCULAR CALIBER; HEART HEALTH; RISK-FACTORS; RHO KINASE; ENDOTHELIN-1; ARTERIOLES; ABNORMALITIES; EPIDEMIOLOGY AB Background-Obstructive sleep apnea (OSA) is a common condition affecting more men than women. The relationship of OSA with microvascular disease is unclear, complicated by possible sex difference. Assessment of the relationship of OSA with retinal microvascular signs in men and women may provide insights into such a relationship. Methods and Results-We examined the sex-specific cross-sectional association of OSA severity with retinal vascular calibers in 1808 participants, and with specific retinopathy signs in 1831 participants from a sample of 2060 participants aged 54 to 93 years who underwent successful polysomnography in the Multi-Ethnic Study of Atherosclerosis, 2010-2012. OSA severity was defined by the apnea-hypopnea index (events/h) as none (<5), mild (5-14.9), moderate (15-29.9), and severe (>= 30). As compared to no OSA, moderate/severe OSA in men was associated with retinal arteriolar narrowing (odds ratio [OR] and 95% CI for the narrowest quartile: 1.65 [1.00-2.71]) and retinal venular widening (1.80 [1.07-3.04] for the widest quartile), but not in women (odds ratio: 1.10 [0.671.81] and 0.91 [0.58-1.43], respectively) after adjusting for age, race/ethnicity, body mass index, pack-years of cigarette smoking, alcohol intake, hypertension duration, diabetes mellitus duration, HbA1c levels, lipid profile, micro-/macroalbuminuria, estimated glomerular filtration rate, beta-blockers use, antihypertensive therapy, and lipid-lowering therapy. In contrast, severe OSA was associated with retinal microaneurysms in women, but not in men (odds ratio: 3.22 [1.16- 8.97] and 0.59 [0.27-1.30], respectively). Conclusions-The associations of OSA severity with retinal microvascular signs may differ by sex. Whether these findings were related to sex differences in OSA exposure needs further investigation. C1 [Lin, Gen-Min; Colangelo, Laura A.; Liu, Kiang] Northwestern Univ, Dept Prevent Med, Chicago, IL 60611 USA. [Lin, Gen-Min] Hualien Armed Forces Gen Hosp, Dept Med, Hualien, Taiwan. [Lin, Gen-Min] Natl Def Med Ctr, Tri Serv Gen Hosp, Taipei, Taiwan. [Redline, Susan] Harvard Med Sch, Dept Med, Boston, MA USA. [Redline, Susan] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. [Redline, Susan] Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA. [Klein, Ronald; Klein, Barbara E. K.] Univ Wisconsin, Sch Med & Publ Hlth, Dept Ophthalmol & Visual Sci, Madison, WI USA. [Cotch, Mary Frances] NEI, Div Epidemiol & Clin Applicat, NIH Intramural Res Program, NIH, Bethesda, MD 20892 USA. [Wong, Tien Y.] Natl Univ Singapore, Singapore, Singapore. [Wong, Tien Y.] Natl Univ Singapore, Singapore Eye Res Inst, Singapore Natl Eye Ctr, Duke NUS Grad Med Sch, Singapore, Singapore. [Patel, Sanjay R.] Univ Pittsburgh, Dept Med, Pittsburgh, PA 15260 USA. [Shea, Steven J.] Columbia Univ, Dept Med, New York, NY USA. [Shea, Steven J.] Columbia Univ, Dept Epidemiol, New York, NY USA. RP Lin, GM (reprint author), Northwestern Univ, Dept Prevent Med, Feinberg Sch Med, 680 North Lake Shore Dr,Suite 1400, Chicago, IL 60611 USA. EM gen-min.lin@northwestern.edu OI Patel, Sanjay/0000-0002-9142-5172 FU National Heart, Lung, and Blood Institute at the National Institutes of Health [N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169]; National Center for Research Resources [UL1-TR-000040, UL1-RR-025005, R01HL098433, R21 HL121348, T32-HL069764]; Intramural Research Program at the National Eye Institute, National Institutes of Health [ZIAEY000403]; Ministry of Defense, Taiwan FX This research was supported by contracts N01-HC-95159 through N01-HC-95169 from the National Heart, Lung, and Blood Institute at the National Institutes of Health, by grants UL1-TR-000040, UL1-RR-025005 from the National Center for Research Resources, R01HL098433 (MESA Sleep, R21 HL121348) and T32-HL069764. Support for the visit 5 retinal component was provided by the Intramural Research Program at the National Eye Institute, National Institutes of Health (ZIAEY000403). A full list of participating MESA investigators and institutions can be found at http://www.mesa-nhlbi.org. Lin was supported by a scholarship grant from the Ministry of Defense, Taiwan. NR 47 TC 1 Z9 1 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003598 DI 10.1161/JAHA.116.003598 PG 10 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800046 ER PT J AU Menard, MT Farber, A Assmann, SF Choudhry, NK Conte, MS Creager, MA Dake, MD Jaff, MR Kaufman, JA Powell, RJ Reid, DM Siami, FS Sopko, G White, CJ Rosenfield, K AF Menard, Matthew T. Farber, Alik Assmann, Susan F. Choudhry, Niteesh K. Conte, Michael S. Creager, Mark A. Dake, Michael D. Jaff, Michael R. Kaufman, John A. Powell, Richard J. Reid, Diane M. Siami, Flora Sandra Sopko, George White, Christopher J. Rosenfield, Kenneth TI Design and Rationale of the Best Endovascular Versus Best Surgical Therapy for Patients With Critical Limb Ischemia (BEST-CLI) Trial SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE atherosclerosis; cost-effectiveness; critical limb ischemia; endovascular; outcome; quality; stent treatment; surgery ID PERIPHERAL ARTERIAL-DISEASE; COST-EFFECTIVENESS ANALYSIS; LEG BASIL TRIAL; LOWER-EXTREMITY; THREATENING ISCHEMIA; AMPUTATION-FREE; SAPHENOUS-VEIN; TASK-FORCE; BYPASS; ANGIOPLASTY AB Background-Critical limb ischemia (CLI) is increasing in prevalence, and remains a significant source of mortality and limb loss. The decision to recommend surgical or endovascular revascularization for patients who are candidates for both varies significantly among providers and is driven more by individual preference than scientific evidence. Methods and Results-The Best Endovascular Versus Best Surgical Therapy for Patients With Critical Limb Ischemia (BEST-CLI) Trial is a prospective, randomized, multidisciplinary, controlled, superiority trial designed to compare treatment efficacy, functional outcomes, quality of life, and cost in patients undergoing best endovascular or best open surgical revascularization. Approximately 140 clinical sites in the United States and Canada will enroll 2100 patients with CLI who are candidates for both treatment options. A pragmatic trial design requires consensus on patient eligibility by at least 2 investigators, but leaves the choice of specific procedural strategy within the assigned revascularization approach to the individual treating investigator. Patients with suitable single-segment of saphenous vein available for potential bypass will be randomized within Cohort 1 (n=1620), while patients without will be randomized within Cohort 2 (n= 480). The primary efficacy end point of the trial is Major Adverse Limb Event-Free Survival. Key secondary end points include Re-intervention and Amputation-Free-Survival and Amputation Free-Survival. Conclusions-The BEST-CLI trial is the first randomized controlled trial comparing endovascular therapy to open surgical bypass in patients with CLI to be carried out in North America. This landmark comparative effectiveness trial aims to provide Level I data to clarify the appropriate role for both treatment strategies and help define an evidence-based standard of care for this challenging patient population. C1 [Menard, Matthew T.] Brigham & Womens Hosp, Div Vasc & Endovasc Surg, 75 Francis St, Boston, MA 02115 USA. [Choudhry, Niteesh K.] Brigham & Womens Hosp, Div Pharmacoepidemiol & Pharmacoecon, 75 Francis St, Boston, MA 02115 USA. [Farber, Alik] Boston Med Ctr, Div Vasc & Endovasc Surg, Boston, MA USA. [Assmann, Susan F.; Siami, Flora Sandra] New England Res Inst, 9 Galen St, Watertown, MA 02172 USA. [Conte, Michael S.] Univ Calif San Francisco, Med Ctr, Div Vasc & Endovasc Surg, San Francisco, CA USA. [Creager, Mark A.] Dartmouth Hitchcock Med Ctr, Dartmouth Hitchcock Heart & Vasc Ctr, Lebanon, NH 03766 USA. [Powell, Richard J.] Dartmouth Hitchcock Med Ctr, Div Vasc Surg, Lebanon, NH 03766 USA. [Dake, Michael D.] Stanford Hosp & Clin, Dept Cardiothorac Surg, Stanford, CA USA. [Jaff, Michael R.] Massachusetts Gen Hosp, Fireman Vasc Ctr, Boston, MA 02114 USA. [Rosenfield, Kenneth] Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA. [Kaufman, John A.] Dotter Intervent Inst OHSU, Portland, OR USA. [Reid, Diane M.; Sopko, George] NHLBI, Bldg 10, Bethesda, MD 20892 USA. [White, Christopher J.] Ochsner Med Ctr, Dept Cardiol, New Orleans, LA USA. RP Menard, MT (reprint author), Brigham & Womens Hosp, Dept Vasc Surg, 75 Francis St, Boston, MA 02115 USA. EM mmenard@partners.org FU National Heart, Lung, and Blood Institute [U01HL107407, U01HL107352, U01HL115662] FX This trial is funded by National Heart, Lung, and Blood Institute through grant numbers U01HL107407, U01HL107352, and U01HL115662. NR 42 TC 6 Z9 7 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003219 DI 10.1161/JAHA.116.003219 PG 21 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800018 ER PT J AU Sandfort, V Lai, SH Ahlman, MA Mallek, M Liu, ST Sibley, CT Turkbey, EB Lima, JAC Bluemke, DA AF Sandfort, Veit Lai, Shenghan Ahlman, Mark A. Mallek, Marissa Liu, Songtao Sibley, Christopher T. Turkbey, Evrim B. Lima, Joao A. C. Bluemke, David A. TI Obesity Is Associated With Progression of Atherosclerosis During Statin Treatment SO JOURNAL OF THE AMERICAN HEART ASSOCIATION LA English DT Article DE carotid artery; carotid magnetic resonance imaging; obesity ID LIPID-LOWERING THERAPY; RANDOMIZED CONTROLLED-TRIAL; CORONARY-HEART-DISEASE; C-REACTIVE PROTEIN; CAROTID ATHEROSCLEROSIS; PLAQUE PROGRESSION; RISK; EVENTS; MRI; PREDICTION AB Background-This study aimed to determine the relationship of statin therapy and cardiovascular risk factors to changes in atherosclerosis in the carotid artery. Methods and Results-Carotid magnetic resonance imaging was used to evaluate 106 hyperlipidemic participants at baseline and after 12 months of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor (statin) treatment. Multivariable logistic regression was used to determine factors associated with progression (change in carotid wall volume >0) or regression (change <= 0) of carotid atherosclerosis. Computed tomography coronary calcium scores were obtained at baseline for all participants. The median age was 65 years (interquartile range 60-69 years), and 63% of the participants were male. Body mass index >30, elevated C-reactive protein, and hypertension were associated with increased carotid wall volume (obesity: odds ratio for progression 4.6, 95% CI 1.8-12.4, P<0.01; C-reactive protein: odds ratio for progression 2.56, 95% CI 1.17-5.73, P=0.02; hypertension: odds ratio 2.4, 95% CI 1.1-5.3, P<0.05). Higher statin dose was associated with regression of carotid wall volume (P<0.05). In multivariable analysis, obesity remained associated with progression (P<0.01), whereas statin use remained associated with regression (P<0.05). Change in atheroma volume in obese participants was +4.8% versus -4.2% in nonobese participants (P<0.05) despite greater low-density lipoprotein cholesterol reduction in obese participants. Conclusions-In a population with hyperlipidemia, obese patients showed atheroma progression despite optimized statin therapy. C1 [Sandfort, Veit; Ahlman, Mark A.; Mallek, Marissa; Liu, Songtao; Sibley, Christopher T.; Turkbey, Evrim B.] Natl Inst Hlth Clin Ctr, Dept Radiol & Imaging Sci, Bethesda, MD USA. [Lai, Shenghan; Lima, Joao A. C.] Johns Hopkins Sch Med, Baltimore, MD USA. RP Bluemke, DA (reprint author), NIH, Radiol & Imaging Sci, CC, 9000 Rockville Pike,10 Ctr Dr,Bld 10,Room 1C356, Bethesda, MD 20892 USA. EM bluemked@cc.nih.gov FU NIH intramural research program FX Funding was provided by the NIH intramural research program. NR 31 TC 0 Z9 0 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-9980 J9 J AM HEART ASSOC JI J. Am. Heart Assoc. PD JUL PY 2016 VL 5 IS 7 AR e003621 DI 10.1161/JAHA.116.003621 PG 13 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EA6CT UT WOS:000386713800051 ER PT J AU Akrami, K Sweeney, DA Malhotra, A AF Akrami, Kevan Sweeney, Daniel A. Malhotra, Atul TI Antibiotic stewardship in the intensive care unit: tools for de-escalation from the American Thoracic Society Meeting 2016 SO JOURNAL OF THORACIC DISEASE LA English DT Editorial Material ID RANDOMIZED CONTROLLED-TRIAL; ANTIMICROBIAL STEWARDSHIP; PNEUMONIA; PROCALCITONIN C1 [Akrami, Kevan] Univ Calif San Diego, Dept Infect Dis, San Diego, CA 92103 USA. [Akrami, Kevan] NIH, Crit Care Med, Bldg 10, Bethesda, MD 20892 USA. [Sweeney, Daniel A.; Malhotra, Atul] Univ Calif San Diego, Dept Pulm Crit Care & Sleep Med, San Diego, CA 92103 USA. RP Malhotra, A (reprint author), Univ Calif San Diego, Div Pulm Crit Care & Sleep, San Diego, CA 92103 USA. EM amalhotra@ucsd.edu FU NHLBI NIH HHS [K24 HL132105, R01 HL081823, R01 HL085188, R01 HL119201, R21 HL121794] NR 12 TC 0 Z9 0 U1 1 U2 1 PU PIONEER BIOSCIENCE PUBL CO PI HONG KONG PA 9A GOLD SHINE TOWER, 346-348 QUEEN'S RD CENTRAL, SHEUNG WAN, HONG KONG, 00000, PEOPLES R CHINA SN 2072-1439 EI 2077-6624 J9 J THORAC DIS JI J. Thorac. Dis. PD JUL PY 2016 VL 8 SU 7 BP S533 EP S535 DI 10.21037/jtd.2016.07.28 PG 3 WC Respiratory System SC Respiratory System GA DY9FK UT WOS:000385438900003 PM 27606085 ER PT J AU Noinaj, N Mayclin, S Stanley, AM Jao, CC Buchanan, SK AF Noinaj, Nicholas Mayclin, Stephen Stanley, Ann M. Jao, Christine C. Buchanan, Susan K. TI From Constructs to Crystals - Towards Structure Determination of beta-barrel Outer Membrane Proteins SO JOVE-JOURNAL OF VISUALIZED EXPERIMENTS LA English DT Article DE Chemistry; Issue 113; beta-barrel; membrane protein; protein crystallization; structural biology; membranes; protein refolding; protein purification ID HIGH-THROUGHPUT CRYSTALLIZATION; LIGATION-INDEPENDENT CLONING; ANGSTROM RESOLUTION; ESCHERICHIA-COLI; FIMD USHER; RECEPTOR; TRANSPORTER; BIOGENESIS; SECRETION; NEISSERIA AB Membrane proteins serve important functions in cells such as nutrient transport, motility, signaling, survival and virulence, yet constitute only similar to 1% percent of known structures. There are two types of membrane proteins, alpha-helical and beta-barrel. While alpha-helical membrane proteins can be found in nearly all cellular membranes, beta-barrel membrane proteins can only be found in the outer membranes of mitochondria, chloroplasts, and Gram-negative bacteria. One common bottleneck in structural studies of membrane proteins in general is getting enough pure sample for analysis. In hopes of assisting those interested in solving the structure of their favorite beta-barrel outer membrane protein (OMP), general protocols are presented for the production of target beta-barrel OMPs at levels useful for structure determination by either X-ray crystallography and/or NMR spectroscopy. Here, we outline construct design for both native expression and for expression into inclusion bodies, purification using an affinity tag, and crystallization using detergent screening, bicelle, and lipidic cubic phase techniques. These protocols have been tested and found to work for most OMPs from Gram-negative bacteria; however, there are some targets, particularly for mitochondria and chloroplasts that may require other methods for expression and purification. As such, the methods here should be applicable for most projects that involve OMPs from Gram-negative bacteria, yet the expression levels and amount of purified sample will vary depending on the target OMP. C1 [Noinaj, Nicholas] Purdue Univ, Dept Biol Sci, Markey Ctr Struct Biol, W Lafayette, IN 47907 USA. [Mayclin, Stephen; Stanley, Ann M.; Jao, Christine C.; Buchanan, Susan K.] NIDDK, NIH, Bethesda, MD USA. [Stanley, Ann M.; Jao, Christine C.] NIGMS, NIH, Bethesda, MD USA. RP Noinaj, N (reprint author), Purdue Univ, Dept Biol Sci, Markey Ctr Struct Biol, W Lafayette, IN 47907 USA. EM nnoinaj@purdue.edu FU National Institute of Diabetes and Digestive and Kidney Diseases; Intramural Research Program at the National Institutes of Health; National Institute of General Medical Sciences; National Institute of Allergy and Infectious Diseases [1K22AI113078-01]; Department of Biological Sciences at Purdue University FX We would like to thank Herve Celia of the CNRS for providing the UV images and Chris Dettmar and Garth Simpson in the Department of Chemistry at Purdue University for providing the SONICC images. We would like to acknowledge funding from the National Institute of Diabetes and Digestive and Kidney Diseases and the Intramural Research Program at the National Institutes of Health. Additionally, we would like to acknowledge additional funding from the National Institute of General Medical Sciences (A.M.S. and C.J.), National Institute of Allergy and Infectious Diseases (N.N. 1K22AI113078-01), and the Department of Biological Sciences at Purdue University (N.N.). NR 44 TC 0 Z9 0 U1 4 U2 4 PU JOURNAL OF VISUALIZED EXPERIMENTS PI CAMBRIDGE PA 1 ALEWIFE CENTER, STE 200, CAMBRIDGE, MA 02140 USA SN 1940-087X J9 JOVE-J VIS EXP JI J. Vis. Exp. PD JUL PY 2016 IS 113 AR e53245 DI 10.3791/53245 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DZ1TG UT WOS:000385622600009 ER PT J AU Rosenheck, R Leslie, D Sint, K Lin, HQ Robinson, DG Schooler, NR Mueser, KT Penn, DL Addington, J Brunette, MF Correll, CU Estroff, SE Marcy, P Robinson, J Severe, J Rupp, A Schoenbaum, M Kane, JM AF Rosenheck, Robert Leslie, Douglas Sint, Kyaw Lin, Haiqun Robinson, Delbert G. Schooler, Nina R. Mueser, Kim T. Penn, David L. Addington, Jean Brunette, Mary F. Correll, Christoph U. Estroff, Sue E. Marcy, Patricia Robinson, James Severe, Joanne Rupp, Agnes Schoenbaum, Michael Kane, John M. TI Cost-Effectiveness of Comprehensive, Integrated Care for First Episode Psychosis in the NIMH RAISE Early Treatment Program SO SCHIZOPHRENIA BULLETIN LA English DT Article DE schizophrenia; cost-effectiveness; quality adjusted life years ID RANDOMIZED CONTROLLED-TRIAL; EARLY INTERVENTION SERVICE; NEGATIVE SYNDROME SCALE; ADJUSTED LIFE-YEAR; HEALTH-CARE; CATCHMENT-AREA; HOSPITAL USE; SCHIZOPHRENIA; DISORDERS; QUALITY AB This study compares the cost-effectiveness of Navigate (NAV), a comprehensive, multidisciplinary, team-based treatment approach for first episode psychosis (FEP) and usual Community Care (CC) in a cluster randomization trial. Patients at 34 community treatment clinics were randomly assigned to either NAV (N = 223) or CC (N = 181) for 2 years. Effectiveness was measured as a one standard deviation change on the Quality of Life Scale (QLS-SD). Incremental cost effectiveness ratios were evaluated with bootstrap distributions. The Net Health Benefits Approach was used to evaluate the probability that the value of NAV benefits exceeded its costs relative to CC from the perspective of the health care system. The NAV group improved significantly more on the QLS and had higher outpatient mental health and antipsychotic medication costs. The incremental cost-effectiveness ratio was $ 12 081/QLS-SD, with a.94 probability that NAV was more cost-effective than CC at $ 40 000/QLS-SD. When converted to monetized Quality Adjusted Life Years, NAV benefits exceeded costs, especially at future generic drug prices. C1 [Rosenheck, Robert; Sint, Kyaw; Lin, Haiqun] Yale Med Sch, Dept Psychiat & Publ Hlth, New Haven, CT USA. [Leslie, Douglas] Penn State Coll Med, Dept Publ Hlth Sci, Hershey, PA USA. [Robinson, Delbert G.; Schooler, Nina R.; Correll, Christoph U.; Marcy, Patricia; Kane, John M.] North Shore Long Isl Jewish, Zucker Hillside Hosp, Psychiat Res, Glen Oaks, NY USA. [Robinson, Delbert G.; Correll, Christoph U.; Kane, John M.] Feinstein Inst Med Res, Manhasset, NY USA. [Robinson, Delbert G.; Correll, Christoph U.; Kane, John M.] Hofstra North Shore LIJ Sch Med, Dept Psychiat, Hempstead, NY USA. [Robinson, Delbert G.; Correll, Christoph U.; Kane, John M.] Hofstra North Shore LIJ Sch Med, Dept Mol Med, Hempstead, NY USA. [Schooler, Nina R.; Correll, Christoph U.; Kane, John M.] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Bronx, NY 10467 USA. [Schooler, Nina R.] Suny Downstate Med Ctr, Dept Psychiat, Brooklyn, NY 11203 USA. [Mueser, Kim T.] Boston Univ, Dept Occupat Therapy, Ctr Psychiat Rehabil, Boston, MA 02215 USA. [Mueser, Kim T.] Boston Univ, Dept Psychiat, Ctr Psychiat Rehabil, Boston, MA 02215 USA. [Mueser, Kim T.] Boston Univ, Dept Psychol, Ctr Psychiat Rehabil, 64 Cummington St, Boston, MA 02215 USA. [Penn, David L.] Univ North Carolina Chapel Hill, Dept Psychol, Chapel Hill, NC USA. [Penn, David L.] Australian Catholic Univ, Sch Psychol, Melbourne, Vic, Australia. [Addington, Jean] Univ Calgary, Hotchkiss Brain Inst, Dept Psychiat, Calgary, AB, Canada. [Brunette, Mary F.] Geisel Sch Med Dartmouth, Lebanon, NH USA. [Brunette, Mary F.] DHHS, Bur Behav Hlth, Concord, NH USA. [Estroff, Sue E.] Univ N Carolina, Dept Social Med, Chapel Hill, NC USA. [Robinson, James] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA. [Severe, Joanne; Rupp, Agnes; Schoenbaum, Michael] NIMH, Rockville, MD 20857 USA. RP Rosenheck, R (reprint author), VA Connecticut Hlth Care Syst, VA New England Mental Illness Res Educ & Clin Ctr, 950 Campbell Ave, West Haven, CT 06516 USA. EM Robert.Rosenheck@Yale.Edu FU American Recovery and Reinvestment Act; National Institute of Mental Health [HHSN271200900019C] FX This work was supported with funds from the American Recovery and Reinvestment Act and from the National Institute of Mental Health, under Contract No. HHSN271200900019C. The contents of this article are solely the responsibility of the authors and do not necessarily represent the views of National Institute of Mental Health or the US Department of Health and Human Services. NR 44 TC 2 Z9 2 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0586-7614 EI 1745-1701 J9 SCHIZOPHRENIA BULL JI Schizophr. Bull. PD JUL PY 2016 VL 42 IS 4 BP 896 EP 906 DI 10.1093/schbul/sbv224 PG 11 WC Psychiatry SC Psychiatry GA DY7AF UT WOS:000385280800011 PM 26834024 ER PT J AU Xu, Y Yue, WH Shugart, YY Li, S Cai, L Li, Q Cheng, ZH Wang, GQ Zhou, ZH Jin, CH Yuan, JM Tian, L Wang, J Zhang, K Zhang, KR Liu, S Song, YQ Zhang, FQ AF Xu, Yong Yue, Weihua Shugart, Yin Yao Li, Sheng Cai, Lei Li, Qiang Cheng, Zaohuo Wang, Guoqiang Zhou, Zhenhe Jin, Chunhui Yuan, Jianmin Tian, Lin Wang, Jun Zhang, Kai Zhang, Kerang Liu, Sha Song, Yuqing Zhang, Fuquan TI Exploring Transcription Factors-microRNAs Co-regulation Networks in Schizophrenia SO SCHIZOPHRENIA BULLETIN LA English DT Article DE schizophrenia; transcriptional factor; microRNA; miR-124-3p; EGRl ID GENE COEXPRESSION NETWORKS; R PACKAGE; COMMON VARIANTS; BRAIN DISORDERS; CONFERRING RISK; HUMAN-DISEASE; EXPRESSION; MICROARRAY; DATABASE; GENOME AB Background: Transcriptional factors (TFs) and microRNAs (miRNAs) have been recognized as 2 classes of principal gene regulators that may be responsible for genome coexpression changes observed in schizophrenia (SZ). Methods: This study aims to (1) identify differentially coexpressed genes (DCGs) in 3 mRNA expression microarray datasets; (2) explore potential interactions among the DCGs, and differentially expressed miRNAs identified in our dataset composed of early-onset SZ patients and healthy controls; (3) validate expression levels of some key transcripts; and (4) explore the druggability of DCGs using the curated database. Results: We detected a differential coexpression network associated with SZ and found that 9 out of the 12 regulators were replicated in either of the 2 other datasets. Leveraging the differentially expressed miRNAs identified in our previous dataset, we constructed a miRNA-TF-gene network relevant to SZ, including an EGR1-miR-1243p-SKIL feed-forward loop. Our real-time quantitative PCR analysis indicated the overexpression of miR-124-3p, the under expression of SKIL and EGR1 in the blood of SZ patients compared with controls, and the direction of change of miR-124-3p and SKIL mRNA levels in SZ cases were reversed after a 12-week treatment cycle. Our druggability analysis revealed that many of these genes have the potential to be drug targets. Conclusions: Together, our results suggest that coexpression network abnormalities driven by combinatorial and interactive action from TFs and miRNAs may contribute to the development of SZ and be relevant to the clinical treatment of the disease. C1 [Xu, Yong; Zhang, Kerang; Liu, Sha] Shanxi Med Univ, Hosp 1, Clin Med Coll 1, Dept Psychiat, Taiyuan, Peoples R China. [Yue, Weihua; Song, Yuqing] Peking Univ, Hosp 6, Inst Mental Hlth, Dept Psychiat, Beijing, Peoples R China. [Yue, Weihua] Peking Univ, Key Lab Mental Hlth, Minist Hlth, Beijing, Peoples R China. [Yue, Weihua] Peking Univ, Natl Clin Res Ctr Mental Disorders, Beijing, Peoples R China. [Shugart, Yin Yao] NIMH, Unit Stat Genom, Intramural Res Program, NIH, Bethesda, MD 20892 USA. [Li, Sheng; Cai, Lei] Shanghai Jiao Tong Univ, Minist Educ, BioX Inst, Key Lab Genet Dev & Neuropsychiat Disorders, Shanghai, Peoples R China. [Li, Qiang] Fudan Univ, Childrens Hosp, Shanghai Key Lab Birth Defect, Shanghai, Peoples R China. [Cheng, Zaohuo; Wang, Guoqiang; Zhou, Zhenhe; Jin, Chunhui; Yuan, Jianmin; Tian, Lin; Wang, Jun; Zhang, Kai; Zhang, Fuquan] Nanjing Med Univ, Dept Psychiat, Wuxi Mental Hlth Ctr, 156 Qianrong Rd, Wuxi, Peoples R China. RP Zhang, FQ (reprint author), Nanjing Med Univ, Dept Psychiat, Wuxi Mental Hlth Ctr, 156 Qianrong Rd, Wuxi, Peoples R China. EM zhangfq@njmu.edu.cn FU National Natural Science Foundation of China [81271482, 81471364, 81571319, 81222017]; Program for New Century Excellent Talents in University [NCET-12-1036]; Construction Plan for Shanxi Science & Technology Infrastructure Platforms [2015091002-0102]; Intramural Research Program of National Institute of Mental Health, National Institutes of Health [MH002929-05] FX This work was supported by National Natural Science Foundation of China (81271482, 81471364, 81571319, 81222017), Program for New Century Excellent Talents in University (NCET-12-1036), and Construction Plan for Shanxi Science & Technology Infrastructure Platforms (2015091002-0102). Shugart was supported by the Intramural Research Program of National Institute of Mental Health, National Institutes of Health (MH002929-05). NR 58 TC 2 Z9 2 U1 2 U2 2 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0586-7614 EI 1745-1701 J9 SCHIZOPHRENIA BULL JI Schizophr. Bull. PD JUL PY 2016 VL 42 IS 4 BP 1037 EP 1045 DI 10.1093/schbul/sbv170 PG 9 WC Psychiatry SC Psychiatry GA DY7AF UT WOS:000385280800026 PM 26609121 ER PT J AU Bhadriraju, K Halter, M Amelot, J Bajcsy, P Chalfoun, J Vandecreme, A Mallon, BS Park, KY Sista, S Elliott, JT Plant, AL AF Bhadriraju, Kiran Halter, Michael Amelot, Julien Bajcsy, Peter Chalfoun, Joe Vandecreme, Antoine Mallon, Barbara S. Park, Kye-yoon Sista, Subhash Elliott, John T. Plant, Anne L. TI Large-scale time-lapse microscopy of Oct4 expression in human embryonic stem cell colonies SO STEM CELL RESEARCH LA English DT Article DE Fluorescence microscopy; Stem cells; Live cell imaging; Cell therapy; Pluripotency ID SELF-RENEWAL; TRANSCRIPTIONAL REGULATION; FLUORESCENCE MICROSCOPE; ES CELLS; PLURIPOTENCY; NANOG; DIFFERENTIATION; SOX2; ENHANCER; NETWORK AB Identification and quantification of the characteristics of stemcell preparations is critical for understanding stem cell biology and for the development and manufacturing of stem cell based therapies. We have developed image analysis and visualization software that allows effective use of time-lapse microscopy to provide spatial and dynamic information from large numbers of human embryonic stem cell colonies. To achieve statistically relevant sampling, we examined >680 colonies from 3 different preparations of cells over 5 days each, generating a total experimental dataset of 0.9 terabyte (TB). The 0.5 Giga-pixel images at each time point were represented by multi-resolution pyramids and visualized using the Deep Zoom Javascript library extended to support viewing Giga-pixel images over time and extracting data on individual colonies. We present a methodology that enables quantification of variations in nominally-identical preparations and between colonies, correlation of colony characteristics with Oct4 expression, and identification of rare events. (C) Published by Elsevier B.V. C1 [Bhadriraju, Kiran] Univ Maryland, Dept Bioengn, College Pk, MD 20742 USA. [Halter, Michael; Sista, Subhash; Elliott, John T.; Plant, Anne L.] NIST, Biosyst & Biomat Div, Mat Measurement Lab, Gaithersburg, MD 20899 USA. [Amelot, Julien; Bajcsy, Peter; Chalfoun, Joe; Vandecreme, Antoine] NIST, Software Syst Div, Informat Technol Lab, Gaithersburg, MD 20899 USA. [Mallon, Barbara S.; Park, Kye-yoon] NINDS, NIH Stem Cell Unit, Div Intramural Res, NIH,US Dept Hlth & Human Serv, Bethesda, MD 20892 USA. RP Halter, M (reprint author), NIST, Biosyst & Biomat Div, Mat Measurement Lab, Gaithersburg, MD 20899 USA. FU ISAC Scholars Program FX We would like to thank Michael Majurski, Jing Gao, and Mylene Simon for data processing and web application development. We would also like to thank Steven Lund and James Filliben for help with statistical analysis. MH acknowledges support from the ISAC Scholars Program. NR 36 TC 1 Z9 1 U1 6 U2 6 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 1873-5061 EI 1876-7753 J9 STEM CELL RES JI Stem Cell Res. PD JUL PY 2016 VL 17 IS 1 BP 122 EP 129 DI 10.1016/j.scr.2016.05.012 PG 8 WC Cell & Tissue Engineering; Biotechnology & Applied Microbiology; Cell Biology SC Cell Biology; Biotechnology & Applied Microbiology GA DY6ZF UT WOS:000385278000024 PM 27286574 ER PT J AU Sirenko, SG Maltsev, VA Yaniv, Y Bychkov, R Yaeger, D Vinogradova, T Spurgeon, HA Lakatta, EG AF Sirenko, Syevda G. Maltsev, Victor A. Yaniv, Yael Bychkov, Rostislav Yaeger, Daniel Vinogradova, Tatiana Spurgeon, Harold A. Lakatta, Edward G. TI Electrochemical Na+ and Ca2+ gradients drive coupled-clock regulation of automaticity of isolated rabbit sinoatrial nodal pacemaker cells SO AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY LA English DT Article DE cardiac automaticity; sodium; calcium; electrochemical driving forces ID CARDIAC PURKINJE-FIBERS; RYANODINE RECEPTORS; DIGITALIS TOXICITY; INTRACELLULAR PH; REDOX MODIFICATION; SODIUM ACTIVITY; ATPASE ACTIVITY; SINUS NODE; HEART; OUABAIN AB Coupling of an intracellular Ca2+ clock to surface membrane ion channels, i.e., a "membrane clock," via coupling of electrochemical Na+ and Ca2+ gradients (E-Na and E-Ca, respectively) has been theorized to regulate sinoatrial nodal cell (SANC) normal automaticity. To test this hypothesis, we measured responses of [Na+](i), [Ca2+](i), membrane potential, action potential cycle length (APCL), and rhythm in rabbit SANCs to Na+ /K+ pump inhibition by the digitalis glycoside, digoxigenin (DG, 10-20 mu mol/l). Initial small but significant increases in [Na+](i) and [Ca2+](i) and reductions in E-Na and E-Ca in response to DG led to a small reduction in maximum diastolic potential (MDP), significantly enhanced local diastolic Ca2+ releases (LCRs), and reduced the average APCL. As [Na+](i) and [Ca2+](i) continued to increase at longer times following DG exposure, further significant reductions in MDP, E-Na, and E-Ca occurred; LCRs became significantly reduced, and APCL became progressively and significantly prolonged. This was accompanied by increased APCL variability. We also employed a coupled-clock numerical model to simulate changes in E-Na and E-Ca simultaneously with ion currents not measured experimentally. Numerical modeling predicted that, as the E-Na and E-Ca monotonically reduced over time in response to DG, ion currents (I-CaL, I-CaT, I-f, I-Kr, and I-bNa) monotonically decreased. In parallel with the biphasic APCL, diastolic I-NCX manifested biphasic changes; initial I-NCX increase attributable to enhanced LCR ensemble Ca2+ signal was followed by I-NCX reduction as E-NCX (E-NCX = 3E(Na) - 2E(Ca)) decreased. Thus SANC automaticity is tightly regulated by E-Na, E-Ca, and E-NCX via a complex interplay of numerous key clock components that regulate SANC clock coupling. C1 [Sirenko, Syevda G.; Maltsev, Victor A.; Yaniv, Yael; Bychkov, Rostislav; Yaeger, Daniel; Vinogradova, Tatiana; Spurgeon, Harold A.; Lakatta, Edward G.] NIA, Cardiovasc Sci Lab, NIH, Intramural Res Program, Baltimore, MD 21224 USA. [Yaniv, Yael] Technion IIT, Biomed Engn Fac, Haifa, Israel. [Bychkov, Rostislav] Univ Cent Caribe, Bayamon, PR USA. RP Lakatta, EG (reprint author), NIA, Cardiovasc Sci Lab, NIH, Biomed Res Ctr, 51 Bayview Blvd, Baltimore, MD 21224 USA. EM lakattae@grc.nia.nih.gov FU Intramural Research Program of the NIH, National Institute on Aging FX This work was supported by the Intramural Research Program of the NIH, National Institute on Aging. NR 57 TC 0 Z9 0 U1 0 U2 0 PU AMER PHYSIOLOGICAL SOC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 0363-6135 EI 1522-1539 J9 AM J PHYSIOL-HEART C JI Am. J. Physiol.-Heart Circul. Physiol. PD JUL PY 2016 VL 311 IS 1 BP H251 EP H267 DI 10.1152/ajpheart.00667.2015 PG 17 WC Cardiac & Cardiovascular Systems; Physiology; Peripheral Vascular Disease SC Cardiovascular System & Cardiology; Physiology GA DY3CZ UT WOS:000384969700026 PM 27208164 ER PT J AU Karschner, EL Swortwood, MJ Hirvonen, J Goodwin, RS Bosker, WM Ramaekers, JG Huestis, MA AF Karschner, Erin L. Swortwood, Madeleine J. Hirvonen, Jussi Goodwin, Robert S. Bosker, Wendy M. Ramaekers, Johannes G. Huestis, Marilyn A. TI Extended plasma cannabinoid excretion in chronic frequent cannabis smokers during sustained abstinence and correlation with psychomotor performance SO DRUG TESTING AND ANALYSIS LA English DT Article DE cannabinoid; Delta(9)-tetrahydrocannabinol; cannabis; chronic; abstinence ID MASS-SPECTROMETRY; GLUCURONIDATED CANNABINOIDS; SIMULTANEOUS QUANTIFICATION; GAS-CHROMATOGRAPHY; MARIJUANA USERS; HUMAN-URINE; ORAL FLUID; BLOOD; DELTA-9-TETRAHYDROCANNABINOL; THC AB Cannabis smoking increases motor vehicle accident risk. Empirically defined cannabinoid detection windows are important to drugged driving legislation. Our aims were to establish plasma cannabinoid detection windows in frequent cannabis smokers and to determine if residual cannabinoid concentrations were correlated with psychomotor performance. Twenty-eight male chronic frequent cannabis smokers resided on a secure research unit for up to 33 days with daily blood collection. Plasma specimens were analyzed for Delta(9)-tetrahydrocannabinol (THC), 11-hydroxy-THC (11-OH-THC), and 11-nor-9-carboxy-THC (THCCOOH) by gas chromatography-mass spectrometry. Critical tracking and divided attention tasks were administered at baseline (after overnight stay to ensure lack of acute intoxication) and after 1, 2, and 3 weeks of cannabis abstinence. Twenty-seven of the twenty-eight participants were THC-positive at admission (median 4.2 mu g/L). THC concentrations significantly decreased 24 h after admission, but were still >= 2 mu g/L in 16 of the 28 participants 48 h after admission. THC was detected in 3 of 5 specimens on day 30. The last positive 11-OH-THC specimen was 15 days after admission. THCCOOH was measureable in 4 of 5 participants after 30 days of abstinence. Years of prior cannabis use significantly correlated with THC concentrations on admission, and days 7 and 14. Tracking error, evaluated by the Divided Attention Task, was the only evaluated psychomotor assessment significantly correlated with cannabinoid concentrations at baseline and day 8 (11-OH-THC only). Median THC was 0.3 mu g/L in 5 chronic frequent cannabis smokers' plasma samples after 30 days of sustained abstinence. Published 2015. This article is a U.S. Government work and is in the public domain in the USA. C1 [Karschner, Erin L.; Swortwood, Madeleine J.; Goodwin, Robert S.; Bosker, Wendy M.; Huestis, Marilyn A.] NIDA, Chem & Drug Metab, Intramural Res Program, NIH, 251 Bayview Blvd,Suite 05A721, Baltimore, MD 21224 USA. [Karschner, Erin L.] Armed Forces Med Examiner Syst, Div Forens Toxicol, 115 Purple Heart Dr, Dover Afb, DE 19902 USA. [Hirvonen, Jussi] NIMH, Mol Imaging Branch, IRP, NIH, 6001 Execut Blvd, Bethesda, MD 20892 USA. [Hirvonen, Jussi] Univ Turku, Dept Diagnost Radiol, Turun 20014, Finland. [Goodwin, Robert S.] 7 Church Lane,Suite 15A, Pikesville, MD 21208 USA. [Bosker, Wendy M.] Forschungszentrum Julich, Inst Neurosci & Med 4, D-52425 Julich, Germany. [Bosker, Wendy M.; Ramaekers, Johannes G.] Maastricht Univ, Fac Psychol & Neurosci, Dept Neuropsychol & Psychopharmacol, NL-6211 LK Maastricht, Netherlands. RP Huestis, MA (reprint author), NIDA, Chem & Drug Metab, Intramural Res Program, NIH,Biomed Res Ctr, 251 Bayview Blvd,Room 05A721, Baltimore, MD 21224 USA. EM mhuestis@intra.nida.nih.gov FU Intramural Research Programs of the National Institute on Drug Abuse; National Institutes of Mental Health, National Institutes of Health FX This research was funded by the Intramural Research Programs of the National Institute on Drug Abuse and National Institutes of Mental Health, National Institutes of Health. NR 56 TC 0 Z9 0 U1 5 U2 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1942-7603 EI 1942-7611 J9 DRUG TEST ANAL JI Drug Test. Anal. PD JUL PY 2016 VL 8 IS 7 BP 682 EP 689 DI 10.1002/dta.1825 PG 8 WC Biochemical Research Methods; Chemistry, Analytical; Pharmacology & Pharmacy SC Biochemistry & Molecular Biology; Chemistry; Pharmacology & Pharmacy GA DY0RI UT WOS:000384803500009 PM 26097154 ER PT J AU Hartman, RL Brown, TL Milavetz, G Spurgin, A Gorelick, DA Gaffney, G Huestis, MA AF Hartman, Rebecca L. Brown, Timothy L. Milavetz, Gary Spurgin, Andrew Gorelick, David A. Gaffney, Gary Huestis, Marilyn A. TI Controlled vaporized cannabis, with and without alcohol: subjective effects and oral fluid-blood cannabinoid relationships SO DRUG TESTING AND ANALYSIS LA English DT Article DE cannabis; alcohol; subjective; blood; oral fluid ID WHOLE-BLOOD; SMOKED CANNABIS; DELTA(9)-TETRAHYDROCANNABINOL THC; PHARMACOKINETIC PROPERTIES; PSYCHOMOTOR PERFORMANCE; MASS-SPECTROMETRY; MARIJUANA SMOKING; HUMAN VOLUNTEERS; MOTOR CONTROL; PLASMA AB Vaporized cannabis and concurrent cannabis and alcohol intake are commonplace. We evaluated the subjective effects of cannabis, with and without alcohol, relative to blood and oral fluid (OF, advantageous for cannabis exposure screening) cannabinoid concentrations and OF/blood and OF/plasma vaporized-cannabinoid relationships. Healthy adult occasional-to-moderate cannabis smokers received a vaporized placebo or active cannabis (2.9% and 6.7% Delta(9)-tetrahydrocannabinol, THC) with or without oral low-dose alcohol (similar to 0.065g/210L peak breath alcohol concentration [BrAC]) in a within-subjects design. Blood and OF were collected up to 8.3 h post-dose and subjective effects measured at matched time points with visual-analogue scales and 5-point Likert scales. Linear mixed models evaluated subjective effects by THC concentration, BrAC, and interactions. Effects by time point were evaluated by dose-wise analysis of variance (ANOVA). OF versus blood or plasma cannabinoid ratios and correlations were evaluated in paired-positive specimens. Nineteen participants (13 men) completed the study. Blood THC concentration or BrAC significantly associated with subjective effects including 'high', while OF contamination prevented significant OF concentration associations <1.4 h post-dose. Subjective effects persisted through 3.3-4.3 h, with alcohol potentiating the duration of the cannabis effects. Effect-versus-THC concentration and effect-versus-alcohol concentration hystereses were counterclockwise and clockwise, respectively. OF/blood and OF/plasma THC significantly correlated (all Spearman r >= 0.71), but variability was high. Vaporized cannabis subjective effects were similar to those previously reported after smoking, with duration extended by concurrent alcohol. Cannabis intake was identified by OF testing, but OF concentration variability limited interpretation. Blood THC concentrations were more consistent across subjects and more accurate at predicting cannabis' subjective effects. Copyright (C) 2015 John Wiley & Sons, Ltd. C1 [Hartman, Rebecca L.; Huestis, Marilyn A.] NIDA, Chem & Drug Metab, Intramural Res Program, NIH, Baltimore, MD USA. [Hartman, Rebecca L.] Univ Maryland, Toxicol Program, Baltimore, MD 21201 USA. [Brown, Timothy L.] Univ Iowa, Natl Adv Driving Simulator, Iowa City, IA USA. [Milavetz, Gary; Spurgin, Andrew] Univ Iowa, Coll Pharm, Iowa City, IA 52242 USA. [Gorelick, David A.] Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA. [Gaffney, Gary] Univ Iowa, Carver Coll Med, Iowa City, IA USA. RP Huestis, MA (reprint author), Biomed Res Ctr, Suite 200,Room 05A-721,251 Bayview Blvd, Baltimore, MD 21224 USA. EM mhuestis@intra.nida.nih.gov FU Intramural Research Program, National Institute on Drug Abuse, NIH; United States Office of National Drug Control Policy; National Highway Traffic Safety Administration FX We thank the nurses and staff of the University of Iowa Clinical Research Unit and National Advanced Driving Simulator, especially Cheryl Roe, Jennifer Henderson, Rose Schmitt, and Kayla Smith, for excellent contributions to successful study completion. We also thank Drs Dereece Smither and Richard Compton, National Highway Traffic Safety Administration, for invaluable input. We acknowledge University of Maryland, Baltimore Toxicology Program, and Graduate Partnership Program, National Institutes of Health (NIH). Quantisal TM and Volcano (R) devices were provided by the manufacturers to NIH through Materials Transfer Agreements, but manufacturers played no role in study design, data analysis, or manuscript writing. Research was funded by the Intramural Research Program, National Institute on Drug Abuse, NIH, the United States Office of National Drug Control Policy, and the National Highway Traffic Safety Administration. NR 53 TC 1 Z9 1 U1 5 U2 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1942-7603 EI 1942-7611 J9 DRUG TEST ANAL JI Drug Test. Anal. PD JUL PY 2016 VL 8 IS 7 BP 690 EP 701 DI 10.1002/dta.1839 PG 12 WC Biochemical Research Methods; Chemistry, Analytical; Pharmacology & Pharmacy SC Biochemistry & Molecular Biology; Chemistry; Pharmacology & Pharmacy GA DY0RI UT WOS:000384803500010 PM 26257143 ER PT J AU Arai, AE AF Arai, Andrew E. TI Area at risk in acute myocardial infarction: oedema imaging and species-specific findings SO EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING LA English DT Editorial Material ID ISCHEMIC AREA; BIMODAL PATTERN; AT-RISK; SALVAGE; ISCHEMIA/REPERFUSION; GADOLINIUM; MRI C1 [Arai, Andrew E.] NHLBI, Dept Hlth & Human Serv, NIH, Bldg 10,Room B1D416,MSC 1061,10 Ctr Dr, Bethesda, MD 20892 USA. RP Arai, AE (reprint author), NHLBI, Dept Hlth & Human Serv, NIH, Bldg 10,Room B1D416,MSC 1061,10 Ctr Dr, Bethesda, MD 20892 USA. EM araia@nih.gov NR 16 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 2047-2404 EI 2047-2412 J9 EUR HEART J-CARD IMG JI Eur. Heart J.-Cardiovasc. Imaging PD JUL 1 PY 2016 VL 17 IS 7 BP 754 EP 755 DI 10.1093/ehjci/jew074 PG 2 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DX9OP UT WOS:000384725300009 PM 27145801 ER PT J AU Kuhl, JT George, RT Mehra, VC Linde, JJ Chen, M Arai, AE Di Carli, M Kitagawa, K Dewey, M Lima, JAC Kofoed, KF AF Kuhl, Jorgen Tobias George, Richard T. Mehra, Vishal C. Linde, Jesper J. Chen, Marcus Arai, Andrew E. Di Carli, Marcelo Kitagawa, Kakuya Dewey, Marc Lima, Joao A. C. Kofoed, Klaus Fuglsang TI Endocardial-epicardial distribution of myocardial perfusion reserve assessed by multidetector computed tomography in symptomatic patients without significant coronary artery disease: insights from the CORE320 multicentre study SO EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING LA English DT Article DE myocardial perfusion; multi-detector computed tomography; coronary artery disease ID POSITRON-EMISSION-TOMOGRAPHY; BLOOD-FLOW; INSULIN-RESISTANCE; CT; ANGIOGRAPHY; HETEROGENEITY; DYSFUNCTION; ISCHEMIA; HUMANS; RISK AB Aim Previous animal studies have demonstrated differences in perfusion and perfusion reserve between the subendocardium and subepicardium. 320-row computed tomography (CT) with sub-millimetre spatial resolution allows for the assessment of transmural differences in myocardial perfusion reserve (MPR) in humans. We aimed to test the hypothesis that MPR in all myocardial layers is determined by age, gender, and cardiovascular risk profile in patients with ischaemic symptoms or equivalent but without obstructive coronary artery disease (CAD). Methods and results A total of 149 patients enrolled in the CORE320 study with symptoms or signs of myocardial ischaemia and absence of significant CAD by invasive coronary angiography were scanned with static rest and stress CT perfusion. Myocardial attenuation densities were assessed at rest and during adenosine stress, segmented into 3 myocardial layers and 13 segments. MPR was higher in the subepicardium compared with the subendocardium (124% interquartile range [45, 235] vs. 68% [22,102], P < 0.001). Moreover, MPR in the septum was lower than in the inferolateral and anterolateral segments of the myocardium (55% [19, 104] vs. 89% [37, 168] and 124% [54, 270], P < 0.001). By multivariate analysis, high body mass index was significantly associated with reduced MPR in all myocardial layers when adjusted for cardiovascular risk factors (P = 0.02). Conclusion In symptomatic patients without significant coronary artery stenosis, distinct differences in endocardial-epicardial distribution of perfusion reserve may be demonstrated with static CT perfusion. Low MPR in all myocardial layers was observed specifically in obese patients. C1 [Kuhl, Jorgen Tobias; Linde, Jesper J.; Kofoed, Klaus Fuglsang] Univ Copenhagen, Dept Cardiol, Ctr Heart 2012, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. [George, Richard T.; Mehra, Vishal C.; Lima, Joao A. C.] Johns Hopkins Univ, Dept Med, Baltimore, MD USA. [Mehra, Vishal C.; Chen, Marcus; Arai, Andrew E.] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. [Di Carli, Marcelo] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. [Kitagawa, Kakuya] Mie Univ Hosp, Tsu, Mie, Japan. [Dewey, Marc] Charite, Berlin, Germany. [Kofoed, Klaus Fuglsang] Univ Copenhagen, Dept Radiol, Rigshosp, Copenhagen, Denmark. RP Kuhl, JT (reprint author), Univ Copenhagen, Dept Cardiol, Ctr Heart 2012, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. EM tobiaskh@gmail.com FU Toshiba Medical Systems Corporation FX The study sponsor, Toshiba Medical Systems Corporation, was not involved in any stage of the study design, data acquisition, data analysis, or manuscript preparation. NR 28 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 2047-2404 EI 2047-2412 J9 EUR HEART J-CARD IMG JI Eur. Heart J.-Cardiovasc. Imaging PD JUL 1 PY 2016 VL 17 IS 7 BP 779 EP 787 DI 10.1093/ehjci/jev206 PG 9 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DX9OP UT WOS:000384725300015 PM 26341292 ER PT J AU Sandfort, V Ahlman, MA Jones, EC Selwaness, M Chen, MY Folio, LR Bluemke, DA AF Sandfort, Veit Ahlman, Mark A. Jones, Elizabeth C. Selwaness, Mariana Chen, Marcus Y. Folio, Les R. Bluemke, David A. TI High pitch third generation dual-source CT: Coronary and cardiac visualization on routine chest CT SO JOURNAL OF CARDIOVASCULAR COMPUTED TOMOGRAPHY LA English DT Article DE CT; Cardiac imaging; Incidental findings ID COMPUTED TOMOGRAPHIC ANGIOGRAPHY; PULMONARY NODULES; IMAGE QUALITY; ARTERY-DISEASE; DIAGNOSIS AB Background: Chest CT scans are frequently performed in radiology departments but have not previously contained detailed depiction of cardiac structures. Objectives: To evaluate myocardial and coronary visualization on high-pitch non-gated CT of the chest using 3rd generation dual-source computed tomography (CT). Methods: Cardiac anatomy of patients who had 3rd generation, non-gated high pitch contrast enhanced chest CT and who also had prior conventional (low pitch) chest CT as part of a chest abdomen pelvis exam was evaluated. Cardiac image features were scored by reviewers blinded to diagnosis and pitch. Paired analysis was performed. Results: 3862 coronary segments and 2220 cardiac structures were evaluated by two readers in 222 CT scans. Most patients (97.2%) had chest CT for oncologic evaluation. The median pitch was 2.34 (IQR 2.05, 2.65) in high pitch and 0.8 (IQR 0.8, 0.8) in low pitch scans (p < 0.001). High pitch CT showed higher image visualization scores for all cardiovascular structures compared with conventional pitch scans (p < 0.0001). Coronary arteries were visualized in 9 coronary segments per exam in high pitch scans versus 2 segments for conventional pitch (p < 0.0001). Radiation exposure was lower in the high pitch group compared with the conventional pitch group (median CTDIvol 10.83 vs. 12.36 mGy and DLP 790 vs. 827 mGycm respectively, p < 0.01 for both) with comparable image noise (p = 0.43). Conclusion: Myocardial structure and coronary arteries are frequently visualized on non-gated 3rd generation chest CT. These results raise the question of whether the heart and coronary arteries should be routinely interpreted on routine chest CT that is otherwise obtained for non-cardiac indications. Published by Elsevier Inc. on behalf of Society of Cardiovascular Computed Tomography. C1 [Sandfort, Veit; Ahlman, Mark A.; Jones, Elizabeth C.; Selwaness, Mariana; Chen, Marcus Y.; Folio, Les R.; Bluemke, David A.] NIH, Radiol & Imaging Sci, Ctr Clin, 9000 Rockville Pike,10 Ctr Dr,Bld 10,Room 1C356, Bethesda, MD 20892 USA. RP Bluemke, DA (reprint author), NIH, Radiol & Imaging Sci, Ctr Clin, 9000 Rockville Pike,10 Ctr Dr,Bld 10,Room 1C356, Bethesda, MD 20892 USA. EM bluemked@cc.nih.gov OI Bluemke, David/0000-0002-8323-8086 FU NIH intramural program [CL090019, EB000072] FX Funding was provided by the NIH (grant numbers: CL090019, EB000072) intramural program. NR 25 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1934-5925 J9 J CARDIOVASC COMPUT JI J. Cardiovasc. Comput. Tomogr. PD JUL-AUG PY 2016 VL 10 IS 4 BP 282 EP 288 DI 10.1016/j.jcct.2016.03.007 PG 7 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA DY3SN UT WOS:000385014800003 PM 27133589 ER PT J AU Gudino, N Duan, Q de Zwart, JA Murphy-Boesch, J Dodd, SJ Merkle, H van Gelderen, P Duyn, JH AF Gudino, Natalia Duan, Qi de Zwart, Jacco A. Murphy-Boesch, Joe Dodd, Stephen J. Merkle, Hellmut van Gelderen, Peter Duyn, Jeff H. TI Optically Controlled Switch-Mode Current-Source Amplifiers for On-Coil Implementation in High-Field Parallel Transmission SO MAGNETIC RESONANCE IN MEDICINE LA English DT Article DE parallel transmission; high-field MRI; RF amplifiers ID CURRENT AMPLITUDE; RF POWER; INHOMOGENEITY; FEEDBACK; ARRAYS; HEAD; MRI AB Purpose: We tested the feasibility of implementing parallel transmission (pTX) for high-field MRI using a radiofrequency (RF) amplifier design to be located on or in the immediate vicinity of an RF transmit coil. Method: We designed a current-source switch-mode amplifier based on miniaturized, nonmagnetic electronics. Optical RF carrier and envelope signals to control the amplifier were derived, through a custom-built interface, from the RF source accessible in the scanner control. Amplifier performance was tested by benchtop measurements as well as with imaging at 7T (300 MHz) and 11.7 T (500 MHz). The ability to perform pTX was evaluated by measuring interchannel coupling and phase adjustment in a two-channel setup. Results: The amplifier delivered in excess of 44 W RF power and caused minimal interference with MRI. The interface derived accurate optical control signals with carrier frequencies ranging from 64 to 750 MHz. Decoupling better than 14 dB was obtained between two coil loops separated by only 1 cm. Application to MRI was demonstrated by acquiring artifact-free images at 7 T and 11.7 T. Conclusion: We propose an optically controlled miniaturized RF amplifier for on-coil implementation at high fields that should facilitate implementation of high-density pTX arrays. Published 2015. This article is a U.S. Government work and is in the public domain in the USA. C1 [Gudino, Natalia; Duan, Qi; de Zwart, Jacco A.; Murphy-Boesch, Joe; Dodd, Stephen J.; Merkle, Hellmut; van Gelderen, Peter; Duyn, Jeff H.] NINDS, Lab Funct & Mol Imaging, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. RP Gudino, N (reprint author), NINDS, Adv MRI Sect, LFMI, 10 Ctr Dr,Bld 10,B1D728, Bethesda, MD 20892 USA. EM natalia.gudino@nih.gov RI Duan, Qi/J-7916-2016 OI Duan, Qi/0000-0002-2407-6611 FU National Institute of Neurological Disorders and Stroke FX Grant sponsor: National Institute of Neurological Disorders and Stroke, Intramural Research Program. NR 24 TC 1 Z9 1 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0740-3194 EI 1522-2594 J9 MAGN RESON MED JI Magn. Reson. Med. PD JUL PY 2016 VL 76 IS 1 BP 340 EP 349 DI 10.1002/mrm.25857 PG 10 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA DY3MK UT WOS:000384996900034 PM 26256671 ER PT J AU Klinman, DM Sato, T Shimosato, T AF Klinman, Dennis M. Sato, Takashi Shimosato, Takeshi TI Use of nanoparticles to deliver immunomodulatory oligonucleotides SO WILEY INTERDISCIPLINARY REVIEWS-NANOMEDICINE AND NANOBIOTECHNOLOGY LA English DT Review ID CELL LUNG-CANCER; RECEPTOR 9 AGONIST; BACTERIAL-DNA; CPG-OLIGODEOXYNUCLEOTIDES; CARBONATE APATITE; DRUG-DELIVERY; TLR9 AGONIST; PLASMID DNA; COMPUTED-TOMOGRAPHY; GOLD NANOPARTICLES AB Synthetic oligonucleotides (ODNs) containing unmethylated 'CpG motifs' stimulate the innate immune system to produce cytokines, chemokines, and polyreactive antibodies. CpG ODNs have shown promise as vaccine adjuvants and for the treatment of infectious diseases and cancer. The immunostimulatory activity of CpG ODNs is inhibited by DNA-containing 'suppressive' motifs. ODNs expressing suppressive motifs (Sup ODNs) reduce ongoing immune reactions and show promise in the treatment of autoimmune and inflammatory diseases. This work reviews recent progress in the use of nanoparticles as carriers of CpG and Sup ODNs to target their delivery to the GI tract and lungs. (C) 2015 Wiley Periodicals, Inc. C1 [Klinman, Dennis M.] Frederick Natl Lab Canc Res, Canc & Inflammat Program, Frederick, MD 21702 USA. [Sato, Takashi] Yokohama City Univ, Dept Internal Med & Clin Immunol, Grad Sch Med, Yokohama, Kanagawa, Japan. [Shimosato, Takeshi] Shinshu Univ, Interdisciplinary Grad Sch Sci & Technol, Kamiina, Japan. RP Klinman, DM (reprint author), Frederick Natl Lab Canc Res, Canc & Inflammat Program, Frederick, MD 21702 USA. EM klinmand@mail.nih.gov FU Intramural Research Program of the NIH, NCI FX This work was supported by the Intramural Research Program of the NIH, NCI. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the United States government. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the article. The assertions herein are the private ones of the authors and are not to be construed as official or as reflecting the views of the National Cancer Institute at large. NR 59 TC 1 Z9 1 U1 7 U2 7 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1939-5116 EI 1939-0041 J9 WIRES NANOMED NANOBI JI Wiley Interdiscip. Rev.-Nanomed. Nanobiotechnol. PD JUL-AUG PY 2016 VL 8 IS 4 BP 631 EP 637 DI 10.1002/wnan.1382 PG 7 WC Nanoscience & Nanotechnology; Medicine, Research & Experimental SC Science & Technology - Other Topics; Research & Experimental Medicine GA DY3XN UT WOS:000385031200008 PM 26663867 ER PT J AU Bayefsky, MJ Berkman, BE AF Bayefsky, Michelle J. Berkman, Benjamin E. TI The Ethics of Allocating Uterine Transplants SO CAMBRIDGE QUARTERLY OF HEALTHCARE ETHICS LA English DT Article DE uterine transplantation; infertility; allocation; scarce supply; eligibility; motivation; age; child-rearing capacity ID ADVANCED MATERNAL AGE; UTERUS TRANSPLANTATION; MONTREAL-CRITERIA; INFERTILITY; FEASIBILITY; IMPACT; RISKS AB In September 2014, a healthy male child was born in Sweden following a successful uterine transplantation (UTx). The event brought hope to many women without functional uteruses around the world. Having a child with a transplanted uterus is now possible, and as knowledge of the procedure proliferates and interest in UTx grows, it is important to begin thinking about how a scarce supply of uteruses will be allocated. This article represents a first discussion of the range of factors that must be considered in answering the allocation question. The primary issues addressed are (1) the motivation to seek treatment, (2) allocation by age, (3) child-rearing capacity, and (4) the amount of infertility treatment required. A set of eligibility and ranking criteria are presented. These criteria are not exhaustive but are intended to spark discussion about how uteruses can be allocated in a just manner. C1 [Bayefsky, Michelle J.] NIH, Dept Bioeth, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Berkman, Benjamin E.] NIH, Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. [Berkman, Benjamin E.] NIH, Sect Eth Genet & Emerging Technol, Bldg 10, Bethesda, MD 20892 USA. [Berkman, Benjamin E.] NHGRI, Bethesda, MD 20892 USA. [Berkman, Benjamin E.] NHGRI, Bioeth Core, Bethesda, MD 20892 USA. RP Bayefsky, MJ (reprint author), NIH, Dept Bioeth, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. FU Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health FX The opinions expressed herein are the authors' and do not reflect the policies and positions of the National Institutes of Health, the U.S. Public Health Service, or the U.S. Department of Health and Human Services. This research was supported by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. NR 48 TC 0 Z9 0 U1 2 U2 2 PU CAMBRIDGE UNIV PRESS PI NEW YORK PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA SN 0963-1801 EI 1469-2147 J9 CAMB Q HEALTHC ETHIC JI Camb. Q. Healthc. Ethics PD JUL PY 2016 VL 25 IS 3 BP 350 EP 365 DI 10.1017/S0963180115000687 PG 16 WC Health Care Sciences & Services; Health Policy & Services; Social Sciences, Biomedical SC Health Care Sciences & Services; Biomedical Social Sciences GA DX5PA UT WOS:000384432000002 PM 26864991 ER PT J AU Sera, Y Yamasaki, N Oda, H Nagamachi, A Wolff, L Inukai, T Inaba, T Honda, H AF Sera, Yasuyuki Yamasaki, Norimasa Oda, Hideaki Nagamachi, Akiko Wolff, Linda Inukai, Takeshi Inaba, Toshiya Honda, Hiroaki TI Identification of cooperative genes for E2A-PBX1 to develop acute lymphoblastic leukemia SO CANCER SCIENCE LA English DT Article DE Acute lymphoblastic leukemia; conditional knock-in mice; E2A-PBX1; retroviral insertional mutagenesis; Zfp521/ZNF521 ID ZINC-FINGER PROTEIN; ACUTE MYELOID-LEUKEMIA; T-CELL LYMPHOMAGENESIS; B-LINEAGE LEUKEMIA; TRANSGENIC MICE; N-MYC; C-MYC; TRANSCRIPTION FACTOR; PRE-B; EXPRESSION AB E2A-PBX1 is a chimeric gene product detected in t(1;19)-bearing acute lymphoblastic leukemia (ALL) with B-cell lineage. To investigate the leukemogenic process, we generated conditional knock-in (cKI) mice for E2A-PBX1, in which E2A-PBX1 is inducibly expressed under the control of the endogenous E2A promoter. Despite the induced expression of E2A-PBX1, no hematopoietic disease was observed, strongly suggesting that additional genetic alterations are required to develop leukemia. To address this possibility, retroviral insertional mutagenesis was used. Virus infection efficiently induced T-cell, B-cell, and biphenotypic ALL in E2A-PBX1 cKI mice. Inverse PCR identified eight retroviral common integration sites, in which enhanced expression was observed in the Gfi1, Mycn, and Pim1 genes. In addition, it is of note that viral integration and overexpression of the Zfp521 gene was detected in one tumor with B-cell lineage; we previously identified Zfp521 as a cooperative gene with E2A-HLF, another E2A-involving fusion gene with B-lineage ALL. The cooperative oncogenicity of E2A-PBX1 with overexpressed Zfp521 in B-cell tumorigenesis was indicated by the finding that E2A-PBX1 cKI, Zfp521 transgenic compound mice developed B-lineage ALL. Moreover, upregulation of ZNF521, the human counterpart of Zfp521, was found in several human leukemic cell lines bearing t(1; 19). These results indicate that E2A-PBX1 cooperates with additional gene alterations to develop ALL. Among them, enhanced expression of ZNF521 may play a clinically relevant role in E2A fusion genes to develop B-lineage ALL. C1 [Sera, Yasuyuki; Yamasaki, Norimasa; Honda, Hiroaki] Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Dis Model, Hiroshima, Japan. [Oda, Hideaki] Tokyo Womens Med Univ, Dept Pathol, Tokyo, Japan. [Nagamachi, Akiko; Inaba, Toshiya] Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Mol Oncol, Hiroshima, Japan. [Wolff, Linda] NCI, Cellular Oncol Lab, Ctr Canc Res, Bethesda, MD 20892 USA. [Inukai, Takeshi] Univ Yamanashi, Dept Pediat, Fac Med, Yamanashi, Japan. RP Honda, H (reprint author), Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Dis Model, Minami Ku, 1-2-3 Kasumi, Hiroshima 7348553, Japan. EM hhonda@hiroshima-u.ac.jp FU Ministry of Education, Science and Culture of Japan FX Ministry of Education, Science and Culture of Japan. NR 45 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1347-9032 EI 1349-7006 J9 CANCER SCI JI Cancer Sci. PD JUL PY 2016 VL 107 IS 7 BP 890 EP 898 DI 10.1111/cas.12945 PG 9 WC Oncology SC Oncology GA DX9OD UT WOS:000384724100004 PM 27088431 ER PT J AU Moses, HL Roberts, AB Derynck, R AF Moses, Harold L. Roberts, Anita B. Derynck, Rik TI The Discovery and Early Days of TGF-beta: A Historical Perspective SO COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY LA English DT Article ID TRANSFORMING-GROWTH-FACTOR; SERINE THREONINE KINASE; EPITHELIAL-MESENCHYMAL TRANSITION; MOLECULAR-WEIGHT COMPLEX; DAUER LARVA DEVELOPMENT; HUMAN ENDOTHELIAL-CELLS; HUMAN-LUNG FIBROBLASTS; AMINO-ACID-SEQUENCE; MAD-RELATED PROTEIN; II RECEPTOR AB Transforming growth factors (TGFs) were discovered as activities that were secreted by cancer cells, and later by normal cells, and had the ability to phenotypically and reversibly transform immortalized fibroblasts. TGF-beta distinguished itself from TGF-alpha because it did not bind to the same epidermal growth factor (EGF) receptor as TGF-alpha and, therefore, acted through different cell-surface receptors and signaling mediators. This review summarizes the discovery of TGF-beta, the early developments in its molecular and biological characterization with its many biological activities in different cell and tissue contexts and its roles in disease, the realization that there is a family of secreted TGF-beta-related proteins with many differentiation functions in development and activities in normal cell and tissue physiology, and the subsequent identification and characterization of the receptors and effectors that mediate TGF-beta family signaling responses. C1 [Moses, Harold L.] Vanderbilt Univ, Vanderbilt Ingram Canc Ctr, Nashville, TN 37232 USA. [Roberts, Anita B.] NCI, Lab Cell Regulat & Carcinogenesis, Bethesda, MD 20892 USA. [Derynck, Rik] Univ Calif San Francisco, Dept Cell & Tissue Biol, San Francisco, CA 94143 USA. RP Derynck, R (reprint author), Univ Calif San Francisco, Dept Cell & Tissue Biol, San Francisco, CA 94143 USA. EM rik.derynck@ucsf.edu NR 219 TC 2 Z9 2 U1 3 U2 3 PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT PI COLD SPRING HARBOR PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA SN 1943-0264 J9 CSH PERSPECT BIOL JI Cold Spring Harbor Perspect. Biol. PD JUL PY 2016 VL 8 IS 7 AR a021865 DI 10.1101/cshperspect.a021865 PG 26 WC Cell Biology SC Cell Biology GA DY1CE UT WOS:000384831700006 ER PT J AU Lipsky, LM Strawderman, MS Olson, CM AF Lipsky, Leah M. Strawderman, Myla S. Olson, Christine M. TI Weight-related self-efficacy in relation to maternal body weight from early pregnancy to 2 years post-partum SO MATERNAL AND CHILD NUTRITION LA English DT Article DE maternal weight change; weight-related behaviours; behaviour-specific self-efficacy; prospective cohort ID PSYCHOSOCIAL FACTORS; YOUNG-ADULTS; LIFE-STYLE; WOMEN; RETENTION; GAIN; OBESITY; RISK; CHILDBEARING; ASSOCIATION AB Excessive gestational weight gain may lead to long-term increases in maternal body weight and associated health risks. The purpose of this study was to examine the relationship between maternal body weight and weight-related self-efficacy from early pregnancy to 2 years post-partum. Women with live, singleton term infants from a population-based cohort study were included (n = 595). Healthy eating self-efficacy and weight control self-efficacy were assessed prenatally and at 1 year and 2 years post-partum. Body weight was measured at early pregnancy, before delivery, and 6 weeks, 1 year and 2 years post-partum. Behavioural (smoking, breastfeeding) and sociodemographic (age, education, marital status, income) covariates were assessed by medical record review and baseline questionnaires. Multi-level linear regression models were used to examine the longitudinal associations of self-efficacy measures with body weight. Approximately half of the sample (57%) returned to early pregnancy weight at some point by 2 years post-partum, and 9% became overweight or obese at 2 years post-partum. Body weight over time was inversely related to healthy eating (beta = -0.57, P = 0.02) and weight control (beta = -0.99, P < 0.001) self-efficacy in the model controlling for both self-efficacy measures as well as time and behavioural and sociodemographic covariates. Weight-related self-efficacy may be an important target for interventions to reduce excessive gestational weight gain and post-partum weight gain. C1 [Lipsky, Leah M.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Hlth Behav Branch, Div Intramural Publ Hlth Res, Bethesda, MD USA. [Strawderman, Myla S.; Olson, Christine M.] Cornell Univ, Div Nutr Sci, Ithaca, NY 14853 USA. RP Lipsky, LM (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Publ Hlth Res, 6100 Execut Blvd,Suite 7B13, Rockville, MD 20852 USA. EM lipskylm@mail.nih.gov OI Lipsky, Leah/0000-0003-2645-4388 FU NIH [HD29549]; Cornell University; Eunice Kennedy Shriver National Institute of Child Health and Human Development FX This research was funded by NIH grant #HD29549, Cornell University, and the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. NR 46 TC 1 Z9 1 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1740-8695 EI 1740-8709 J9 MATERN CHILD NUTR JI Matern. Child Nutr. PD JUL PY 2016 VL 13 IS 3 BP 569 EP 578 DI 10.1111/mcn.12149 PG 10 WC Nutrition & Dietetics; Pediatrics SC Nutrition & Dietetics; Pediatrics GA DX8PV UT WOS:000384651900003 PM 25244078 ER PT J AU Narayanan, M Martins, AJ Tsang, JS AF Narayanan, Manikandan Martins, Andrew J. Tsang, John S. TI Robust Inference of Cell-to-Cell Expression Variations from Single-and K-Cell Profiling SO PLOS COMPUTATIONAL BIOLOGY LA English DT Article ID RNA-SEQ; GENE-EXPRESSION; REGULATORY HETEROGENEITIES; NOISE; TRANSCRIPTOMICS; CIRCUITS; TISSUES AB Quantifying heterogeneity in gene expression among single cells can reveal information inaccessible to cell-population averaged measurements. However, the expression level of many genes in single cells fall below the detection limit of even the most sensitive technologies currently available. One proposed approach to overcome this challenge is to measure random pools of k cells (e.g., 10) to increase sensitivity, followed by computational "deconvolution" of cellular heterogeneity parameters (CHPs), such as the biological variance of single-cell expression levels. Existing approaches infer CHPs using either single-cell or k-cell data alone, and typically within a single population of cells. However, integrating both single-and k-cell data may reap additional benefits, and quantifying differences in CHPs across cell populations or conditions could reveal novel biological information. Here we present a Bayesian approach that can utilize single-cell, k-cell, or both simultaneously to infer CHPs within a single condition or their differences across two conditions. Using simulated as well as experimentally generated single-and k-cell data, we found situations where each data type would offer advantages, but using both together can improve precision and better reconcile CHP information contained in single-and k-cell data. We illustrate the utility of our approach by applying it to jointly generated single-and k-cell data to reveal CHP differences in several key inflammatory genes between resting and inflammatory cytokine-activated human macrophages, delineating differences in the distribution of 'ON' versus 'OFF' cells and in continuous variation of expression level among cells. Our approach thus offers a practical and robust framework to assess and compare cellular heterogeneity within and across biological conditions using modern multiplexed technologies. C1 [Narayanan, Manikandan; Martins, Andrew J.; Tsang, John S.] NIAID, Syst Genom & Bioinformat Unit, Lab Syst Biol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Tsang, JS (reprint author), NIAID, Syst Genom & Bioinformat Unit, Lab Syst Biol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM john.tsang@nih.gov FU Intramural Research Program of NIAID, NIH FX This work is supported by the Intramural Research Program of NIAID, NIH. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 32 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-734X EI 1553-7358 J9 PLOS COMPUT BIOL JI PLoS Comput. Biol. PD JUL PY 2016 VL 12 IS 7 AR e1005016 DI 10.1371/journal.pcbi.1005016 PG 33 WC Biochemical Research Methods; Mathematical & Computational Biology SC Biochemistry & Molecular Biology; Mathematical & Computational Biology GA DW0SC UT WOS:000383351400029 PM 27438699 ER PT J AU Nussinov, R Papin, JA AF Nussinov, Ruth Papin, Jason A. TI Computing Biology SO PLOS COMPUTATIONAL BIOLOGY LA English DT Editorial Material C1 [Nussinov, Ruth] NCI, Canc & Inflammat Program, Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Frederick, MD 21701 USA. [Nussinov, Ruth] Tel Aviv Univ, Sackler Inst Mol Med, Sackler Sch Med, Dept Human Genet & Mol Med, Tel Aviv, Israel. [Papin, Jason A.] Univ Virginia, Dept Biomed Engn, Charlottesville, VA USA. RP Nussinov, R (reprint author), NCI, Canc & Inflammat Program, Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Frederick, MD 21701 USA.; Nussinov, R (reprint author), Tel Aviv Univ, Sackler Inst Mol Med, Sackler Sch Med, Dept Human Genet & Mol Med, Tel Aviv, Israel. EM nussinor@helix.nih.gov; papin@virginia.edu OI Papin, Jason/0000-0002-2769-5805 NR 0 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-734X EI 1553-7358 J9 PLOS COMPUT BIOL JI PLoS Comput. Biol. PD JUL PY 2016 VL 12 IS 7 AR e1005050 DI 10.1371/journal.pcbi.1005050 PG 3 WC Biochemical Research Methods; Mathematical & Computational Biology SC Biochemistry & Molecular Biology; Mathematical & Computational Biology GA DW0SC UT WOS:000383351400040 PM 27403659 ER PT J AU Subramanian, S Krishna, MC AF Subramanian, Sankaran Krishna, Murali C. TI Electron Paramagnetic Resonance Imaging 1. CW-EPR Imaging SO RESONANCE-JOURNAL OF SCIENCE EDUCATION LA English DT Article DE EPR; imaging; spatial encoding; back-projection; gradients; spectral-spatial imaging; line width; relaxation; oxygen partial pressure; spin probes; CW- and FT-EPR; rapid scan; rotating gradients; redox status; oxidative stress; anti-oxidants; ischaemia ID RAPID-SCAN AB EPR (Electron Paramagnetic Resonance) imaging is particularly useful in monitoring hypoxic zones in tumors which are highly resistant to radiation and chemotherapeutic treatment. This first part of the article covers aspects of CW (continuous wave) imaging with details of FT (pulsed Fourier Transform)-EPR imaging covered in Part 2, to be published in the next issue of Resonance. C1 [Subramanian, Sankaran] IIT Madras, Chem, Madras, Tamil Nadu, India. [Krishna, Murali C.] NCI, Biophys Spect & Imaging Sect, NIH, Bethesda, MD 20892 USA. RP Subramanian, S (reprint author), Indian Inst Technol, Madras 600036, Tamil Nadu, India.; Krishna, MC (reprint author), NCI, Radiat Biol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM subukannan@gmail.com; cherukum@mail.nih.gov NR 10 TC 0 Z9 0 U1 3 U2 3 PU INDIAN ACAD SCIENCES PI BANGALORE PA C V RAMAN AVENUE, SADASHIVANAGAR, P B #8005, BANGALORE 560 080, INDIA SN 0971-8044 EI 0973-712X J9 RESONANCE JI Resonance PD JUL PY 2016 VL 21 IS 7 BP 597 EP 619 PG 23 WC Education, Scientific Disciplines SC Education & Educational Research GA DX7XP UT WOS:000384603000003 ER PT J AU Tran, TM Hong, S Bennett, J Colbert, RA AF Tran, T. M. Hong, S. Bennett, J. Colbert, R. A. TI THE ROLE OF ERAP1 IN SPONDYLOARTHRITIS IN HLA-B27 TRANSGENIC RATS SO CLINICAL AND EXPERIMENTAL RHEUMATOLOGY LA English DT Meeting Abstract C1 [Tran, T. M.; Hong, S.; Bennett, J.; Colbert, R. A.] NIAMSD, NIH, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 4 U2 4 PU CLINICAL & EXPER RHEUMATOLOGY PI PISA PA VIA SANTA MARIA 31, 56126 PISA, ITALY SN 0392-856X EI 1593-098X J9 CLIN EXP RHEUMATOL JI Clin. Exp. Rheumatol. PD JUL-AUG PY 2016 VL 34 IS 4 MA INV19 BP 727 EP 728 PG 2 WC Rheumatology SC Rheumatology GA DW8TG UT WOS:000383927800038 ER PT J AU Gensler, LS Reveille, JD Ward, MM Lee, M Learch, T Brown, MA Rahbar, MH Weisman, MH AF Gensler, L. S. Reveille, J. D. Ward, M. M. Lee, M. Learch, T. Brown, M. A. Rahbar, M. H. Weisman, M. H. TI HIGH DOSE NSAIDs AND TUMOR NECROSIS FACTOR INHIBITOR USE SYNERGIZE TOWARDS LESS RADIOGRAPHIC PROGRESSION IN ANKYLOSING SPONDYLITIS - A LONGITUDINAL ANALYSIS SO CLINICAL AND EXPERIMENTAL RHEUMATOLOGY LA English DT Meeting Abstract C1 [Gensler, L. S.] Univ Calif San Francisco, Dept Med, San Francisco, CA USA. [Reveille, J. D.; Lee, M.; Rahbar, M. H.] Univ Texas Hlth Sci Ctr Houston, Dept Med, Houston, TX 77030 USA. [Ward, M. M.] Natl Inst Arthrit & Musculoskeletal & Skin Dis NI, NIH, Bethesda, MD USA. [Learch, T.; Weisman, M. H.] Cedars Sinai Med Ctr, Dept Med, Los Angeles, CA 90048 USA. [Brown, M. A.] Queensland Univ Technol, Brisbane, Qld, Australia. NR 0 TC 0 Z9 0 U1 0 U2 0 PU CLINICAL & EXPER RHEUMATOLOGY PI PISA PA VIA SANTA MARIA 31, 56126 PISA, ITALY SN 0392-856X EI 1593-098X J9 CLIN EXP RHEUMATOL JI Clin. Exp. Rheumatol. PD JUL-AUG PY 2016 VL 34 IS 4 MA O9 BP 731 EP 732 PG 2 WC Rheumatology SC Rheumatology GA DW8TG UT WOS:000383927800050 ER PT J AU Reveille, J Ward, M Lee, M Weisman, M Gensler, L Rahbar, M Brown, M AF Reveille, J. Ward, M. Lee, M. Weisman, M. Gensler, L. Rahbar, M. Brown, M. TI ETHNICITY AND DISEASE SEVERITY IN ANKYLOSING SPONDYLITIS SO CLINICAL AND EXPERIMENTAL RHEUMATOLOGY LA English DT Meeting Abstract C1 [Reveille, J.; Lee, M.; Rahbar, M.] Univ Texas Houston, Houston, TX USA. [Ward, M.] NIH, Ctr Clin, Bethesda, MD 20892 USA. [Weisman, M.] Cedars Sinai, Los Angeles, CA USA. [Gensler, L.] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Brown, M.] Queensland Univ Technol, Brisbane, Qld, Australia. NR 0 TC 0 Z9 0 U1 0 U2 0 PU CLINICAL & EXPER RHEUMATOLOGY PI PISA PA VIA SANTA MARIA 31, 56126 PISA, ITALY SN 0392-856X EI 1593-098X J9 CLIN EXP RHEUMATOL JI Clin. Exp. Rheumatol. PD JUL-AUG PY 2016 VL 34 IS 4 MA P90 BP 763 EP 763 PG 1 WC Rheumatology SC Rheumatology GA DW8TG UT WOS:000383927800143 ER PT J AU Jones-Lopez, EC Acuna-Villaorduna, C Ssebidandi, M Gaeddert, M Kubiak, RW Ayakaka, I White, LF Joloba, M Okwera, A Fennelly, KP AF Jones-Lopez, Edward C. Acuna-Villaorduna, Carlos Ssebidandi, Martin Gaeddert, Mary Kubiak, Rachel W. Ayakaka, Irene White, Laura F. Joloba, Moses Okwera, Alphonse Fennelly, Kevin P. TI Cough Aerosols of Mycobacterium tuberculosis in the Prediction of Incident Tuberculosis Disease in Household Contacts SO CLINICAL INFECTIOUS DISEASES LA English DT Article DE Mycobacterium tuberculosis; cough-generated aerosols; inoculum; predictors of disease progression; transmission ID AIRBORNE TRANSMISSION; GROWTH-RATES; INFECTION; VARIABILITY; RISK; RESPONSES AB Background. Tuberculosis disease develops in only 5%-10% of humans infected with Mycobacterium tuberculosis. The mechanisms underlying this variability remain poorly understood. We recently demonstrated that colony-forming units of M. tuberculosis in cough-generated aerosols are a better predictor of infection than the standard sputum acid-fast bacilli smear. We hypothesized that cough aerosol cultures may also predict progression to tuberculosis disease in contacts. Methods. We conducted a retrospective cohort study of 85 patients with smear-positive tuberculosis and their 369 household contacts in Kampala, Uganda. Index case patients underwent a standard evaluation, and we cultured M. tuberculosis from cough aerosols. Contacts underwent a standard evaluation at enrollment, and they were later traced to determine their tuberculosis status. Results. During a median follow-up of 3.9 years, 8 (2%) of the contacts developed tuberculosis disease. In unadjusted and adjusted analyses, incident tuberculosis disease in contacts was associated with sputum Mycobacterial Growth Indicator Tube culture (odds ratio, 8.2; 95% confidence interval, 1.1-59.2; P=.04), exposure to a high-aerosol tuberculosis case patient (6.0, 1.4-25.2; P=.01), and marginally, human immunodeficiency virus in the contact (6.11; 0.89-41.7; P=.07). We present data demonstrating that sputum and aerosol specimens measure 2 related but different phenomena. Conclusions. We found an increased risk of tuberculosis progression among contacts of high-aerosol case patients. The hypothesis that a larger infectious inoculum, represented by high aerosol production, determines the risk of disease progression deserves evaluation in future prospective studies. C1 [Jones-Lopez, Edward C.; Acuna-Villaorduna, Carlos; Gaeddert, Mary; Kubiak, Rachel W.] Boston Med Ctr, Dept Med, Sect Infect Dis, Boston, MA USA. [Jones-Lopez, Edward C.; Acuna-Villaorduna, Carlos; Gaeddert, Mary; Kubiak, Rachel W.] Boston Univ, Sch Med, Boston, MA 02118 USA. [White, Laura F.] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA. [Fennelly, Kevin P.] NHLBI, Pulm Clin Med Sect, Cardiovasc & Pulm Branch, Div Intramural Res,NIH, Bldg 10, Bethesda, MD 20892 USA. [Jones-Lopez, Edward C.; Ssebidandi, Martin; Ayakaka, Irene; Okwera, Alphonse] Makerere Univ, Boston Med Ctr Res Collaborat, Kampala, Uganda. [Joloba, Moses] Makerere Univ, Coll Hlth Sci, Dept Microbiol, Kampala, Uganda. [Okwera, Alphonse] Mulago Hosp, Mulago Hosp, TB Clin, Kampala, Uganda. RP Jones-Lopez, EC (reprint author), Boston Univ, Sch Med, Infect Dis Sect, 801 Massachusetts Ave,Crosstown Rm 2009, Boston, MA 02118 USA.; Jones-Lopez, EC (reprint author), Boston Med Ctr, 801 Massachusetts Ave,Crosstown Rm 2009, Boston, MA 02118 USA. EM edward.jones@bmc.org OI Joloba, Moses/0000-0002-0334-9983 FU Division of Global Medicine, Department of Medicine, University of Florida; Section of Infectious Diseases, Department of Medicine, Boston Medical Center and Boston University School of Medicine FX This work was supported by personal funds from the Division of Global Medicine, Department of Medicine, University of Florida, and from the Section of Infectious Diseases, Department of Medicine, Boston Medical Center and Boston University School of Medicine. NR 40 TC 1 Z9 1 U1 1 U2 1 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD JUL 1 PY 2016 VL 63 IS 1 BP 10 EP 20 DI 10.1093/cid/ciw199 PG 11 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA DT1FH UT WOS:000381226600007 PM 27025837 ER PT J AU Cohen, JI Dropulic, L Hsu, AP Zerbe, CS Krogmann, T Dowdell, K Hornung, RL Lovell, J Hardy, N Hickstein, D Cowen, EW Calvo, KR Pittaluga, S Holland, SM AF Cohen, Jeffrey I. Dropulic, Lesia Hsu, Amy P. Zerbe, Christa S. Krogmann, Tammy Dowdell, Kennichi Hornung, Ronald L. Lovell, Jana Hardy, Nancy Hickstein, Dennis Cowen, Edward W. Calvo, Katherine R. Pittaluga, Stefania Holland, Steven M. TI Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers SO CLINICAL INFECTIOUS DISEASES LA English DT Article DE GATA2; Epstein-Barr virus; hydroa vacciniforme; chronic active Epstein-Barr disease; Epstein-Barr virus smooth muscle tumors ID NATURAL-KILLER-CELLS; TRANSCRIPTION FACTOR GATA-2; ACUTE MYELOID-LEUKEMIA; PRIMARY IMMUNODEFICIENCIES; SPORADIC MONOCYTOPENIA; HUMAN CYTOMEGALOVIRUS; AUTOSOMAL-DOMINANT; MONOMAC SYNDROME; DENDRITIC CELL; MUTATIONS AB Background. Most patients infected with Epstein-Barr virus (EBV) are asymptomatic, have nonspecific symptoms, or have self-imiting infectious mononucleosis. EBV, however, may result in severe primary disease or cancer. Methods. We report EBV diseases associated with GATA2 deficiency at one institution and describe the hematology, virology, and cytokine findings. Results. Seven patients with GATA2 deficiency developed severe EBV disease. Three presented with EBV infectious mononucleosis requiring hospitalization, 1 had chronic active EBV disease (B-cell type), 1 had EBV-associated hydroa vacciniforme-like lymphoma with hemophagocytic lymphohistiocytosis, and 2 had EBV-positive smooth muscle tumors. Four of the 7 patients had severe warts and 3 had disseminated nontuberculous mycobacterial infections. All of the patients had low numbers of monocytes, B cells, CD4 T cells, and natural killer cells. All had elevated levels of EBV in the blood; 2 of 3 patients tested had expression of the EBV major immediate-early gene in the blood indicative of active EBV lytic infection. Mean plasma levels of tumor necrosis factor a, interferon., and interferon gamma-induced protein 10 were higher in patients with GATA2 deficiency than in controls. Conclusions. GATA2 is the first gene associated with EBV hydroa vacciniforme-like lymphoma. GATA2 deficiency should be considered in patients with severe primary EBV infection or EBV-associated cancer, especially in those with disseminated nontuberculous mycobacterial disease and warts. C1 [Cohen, Jeffrey I.; Dropulic, Lesia; Krogmann, Tammy; Dowdell, Kennichi] NIAID, Infect Dis Lab, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hsu, Amy P.; Zerbe, Christa S.; Lovell, Jana; Holland, Steven M.] NIAID, Lab Clin Infect Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hardy, Nancy; Hickstein, Dennis] NCI, Expt Transplantat & Immunol Branch, Bethesda, MD 20892 USA. [Cowen, Edward W.] NCI, Dermatol Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [Pittaluga, Stefania] NCI, Pathol Lab, Bethesda, MD 20892 USA. [Calvo, Katherine R.] NIH, Ctr Clin, Dept Lab Med, Hematol Sect, Bldg 10, Bethesda, MD 20892 USA. [Hornung, Ronald L.] Frederick Natl Lab Canc Res, Leidos Biomed Res, Clin Serv Program, Frederick, MD USA. RP Cohen, JI (reprint author), NIH, Infect Dis Lab, Bldg 50,Rm 6134,50 S Dr,MSC8007, Bethesda, MD 20892 USA. EM jcohen@niaid.nih.gov FU National Institute of Allergy and Infectious Diseases; National Cancer Institute; Clinical Center; National Cancer Institute, National Institutes of Health [HHSN261200800001E] FX This work was supported by the intramural research programs of the National Institute of Allergy and Infectious Diseases, the National Cancer Institute, and the Clinical Center. This project has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health (contract HHSN261200800001E). NR 36 TC 2 Z9 2 U1 3 U2 4 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD JUL 1 PY 2016 VL 63 IS 1 BP 41 EP 47 DI 10.1093/cid/ciw160 PG 7 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA DT1FH UT WOS:000381226600011 PM 27169477 ER PT J AU Van Dyke, RB Patel, K Kagan, RM Karalius, B Traite, S Meyer, WA Tassiopoulos, KK Seage, GR Seybolt, LM Burchett, S Hazra, R AF Van Dyke, Russell B. Patel, Kunjal Kagan, Ron M. Karalius, Brad Traite, Shirley Meyer, William A., III Tassiopoulos, Katherine K. Seage, George R., III Seybolt, Lorna M. Burchett, Sandra Hazra, Rohan CA Pediat HIV AIDS Cohort Study PHACS TI Antiretroviral Drug Resistance Among Children and Youth in the United States With Perinatal HIV SO CLINICAL INFECTIOUS DISEASES LA English DT Article DE human immunodeficiency virus; antiviral resistance; children; adolescents; perinatal infection ID MEDICATION ADHERENCE; VIROLOGICAL FAILURE; INFECTION; MUTATIONS AB Among 234 US youths with perinatal human immunodeficiency virus, 75% had antiretroviral resistance, substantially higher than that of the reference laboratory overall (36%-44%). Resistance to newer antiretrovirals and to all antiretrovirals in a class was uncommon. The only factor independently associated with future resistance was a higher peak viral load. C1 [Van Dyke, Russell B.] Tulane Univ, Sch Med, Dept Pediat, 8408,1440 Canal St,Ste 1600, New Orleans, LA 70112 USA. [Patel, Kunjal; Karalius, Brad; Tassiopoulos, Katherine K.; Seage, George R., III] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA. [Kagan, Ron M.] Focus Diagnost, San Juan Capistrano, CA USA. [Traite, Shirley] Harvard TH Chan Sch Publ Hlth, Ctr Biostat AIDS Res, Boston, MA USA. [Meyer, William A., III] Quest Diagnost, Baltimore, MD USA. [Seybolt, Lorna M.] Louisiana State Univ, Dept Pediat, Hlth Sci Ctr, New Orleans, LA USA. [Burchett, Sandra] Harvard Med Sch, Dept Pediat, Boston, MA USA. [Hazra, Rohan] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA. RP Van Dyke, RB (reprint author), Tulane Univ, Sch Med, Dept Pediat, 8408,1440 Canal St,Ste 1600, New Orleans, LA 70112 USA. EM vandyke@tulane.edu FU Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institute of Allergy and Infectious Diseases; Office of AIDS Research; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; National Heart, Lung, and Blood Institute; National Institute of Dental and Craniofacial Research; National Institute on Alcohol Abuse and Alcoholism; Harvard T.H. Chan School of Public Health [HD052102]; Tulane University School of Medicine [HD052104] FX This work was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development with co-funding from the National Institute on Drug Abuse, the National Institute of Allergy and Infectious Diseases, the Office of AIDS Research, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Deafness and Other Communication Disorders, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, and the National Institute on Alcohol Abuse and Alcoholism through cooperative agreements with the Harvard T.H. Chan School of Public Health (HD052102) (Principal Investigator [PI]: George Seage; Project Director: Julie Alperen) and the Tulane University School of Medicine (HD052104) (PI: Russell Van Dyke; Co-PI: Kenneth Rich; Project Director: Patrick Davis). Data management services were provided by Frontier Science and Technology Research Foundation (PI: Suzanne Siminski), and regulatory services and logistical support were provided by Westat, Inc (PI: Julie Davidson). NR 12 TC 4 Z9 4 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD JUL 1 PY 2016 VL 63 IS 1 BP 133 EP 137 DI 10.1093/cid/ciw213 PG 5 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA DT1FH UT WOS:000381226600024 PM 27056398 ER PT J AU Zhu, XG Kim, DW Zhao, L Willingham, MC Cheng, SY AF Zhu, Xuguang Kim, Dong Wook Zhao, Li Willingham, Mark C. Cheng, Sheue-yann TI SAHA-induced loss of tumor suppressor Pten gene promotes thyroid carcinogenesis in a mouse model SO ENDOCRINE-RELATED CANCER LA English DT Article DE thyroid hormone receptors; tumorigenesis; genetically engineered mouse model; thyroid cancer; vorinostat; SAHA; tumor suppressor PTEN ID T-CELL LYMPHOMA; HISTONE DEACETYLASE INHIBITORS; HORMONE-BETA-RECEPTOR; SUBEROYLANILIDE HYDROXAMIC ACID; CANCER CELLS; MOLECULAR-MECHANISMS; SIGNALING PATHWAYS; RADIOIODINE UPTAKE; TARGETED MUTATION; SOLID TUMORS AB Thyroid cancer is on the rise. Novel approaches are needed to improve the outcome of patients with recurrent and advanced metastatic thyroid cancers. FDA approval of suberoylanilide hydroxamic acid (SAHA; vorinostat), an inhibitor of histone deacetylase, for the treatment of hematological malignancies led to the clinical trials of vorinostat for advanced thyroid cancer. However, patients were resistant to vorinostat treatment. To understand the molecular basis of resistance, we tested the efficacy of SAHA in two mouse models of metastatic follicular thyroid cancer: Thrb(PV/PV) and Thrb(PV/PV)Pten(+/-) mice. In both, thyroid cancer is driven by overactivation of PI3K-AKT signaling. However, the latter exhibit more aggressive cancer progression due to haplodeficiency of the tumor suppressor, the Pten gene. SAHA had no effects on thyroid cancer progression in Thrb(PV/PV) mice, indicative of resistance to SAHA. Unexpectedly, thyroid cancer progressed in SAHA-treated Thrb(PV/PV)Pten(+/-) mice with accelerated occurrence of vascular invasion, anaplastic foci, and lung metastasis. Molecular analyses showed further activated PI3K-AKT in thyroid tumors of SAHA-treated Thrb(PV/PV)Pten(+/-) mice, resulting in the activated effectors, p-Rb, CDK6, p21(Cip1), p-cSrc, ezrin, and matrix metalloproteinases, to increase proliferation and invasion of tumor cells. Single-molecule DNA analysis indicated that the wild-type allele of the Pten gene was progressively lost, whereas carcinogenesis progressed in SAHA-treated Thrb(PV/PV)Pten(+/-) mice. Thus, this study has uncovered a novel mechanism by which SAHA-induced loss of the tumor suppressor Pten gene to promote thyroid cancer progression. Effectors downstream of the Pten loss-induced signaling may be potential targets to overcome resistance of thyroid cancer to SAHA. C1 [Zhu, Xuguang; Kim, Dong Wook; Zhao, Li; Willingham, Mark C.; Cheng, Sheue-yann] NCI, Mol Biol Lab, Ctr Canc Res, NIH, Bldg 37, Bethesda, MD 20892 USA. RP Cheng, SY (reprint author), NCI, Mol Biol Lab, Ctr Canc Res, NIH, Bldg 37, Bethesda, MD 20892 USA. EM chengs@mail.nih.gov FU Intramural Research Program of the Center for Cancer Research, National Cancer Institute, National Institutes of Health FX This research was supported by the Intramural Research Program of the Center for Cancer Research, National Cancer Institute, National Institutes of Health. NR 43 TC 0 Z9 0 U1 1 U2 1 PU BIOSCIENTIFICA LTD PI BRISTOL PA EURO HOUSE, 22 APEX COURT WOODLANDS, BRADLEY STOKE, BRISTOL BS32 4JT, ENGLAND SN 1351-0088 EI 1479-6821 J9 ENDOCR-RELAT CANCER JI Endocr.-Relat. Cancer PD JUL PY 2016 VL 23 IS 7 BP 521 EP 533 DI 10.1530/ERC-16-0103 PG 13 WC Oncology; Endocrinology & Metabolism SC Oncology; Endocrinology & Metabolism GA DX2HD UT WOS:000384187900003 PM 27267120 ER PT J AU Alamri, AM Kang, K Groeneveld, S Wang, WS Zhong, XG Kallakury, B Hennighausen, L Liu, XF Furth, PA AF Alamri, Ahmad M. Kang, Keunsoo Groeneveld, Svenja Wang, Weisheng Zhong, Xiaogang Kallakury, Bhaskar Hennighausen, Lothar Liu, Xuefeng Furth, Priscilla A. TI Primary cancer cell culture: mammary-optimized vs conditional reprogramming SO ENDOCRINE-RELATED CANCER LA English DT Article DE primary cell culture; mammary cancer; Brca1; genetically engineered mouse models; transcriptome ID EPITHELIAL-MESENCHYMAL TRANSITION; INTEGRATIVE GENOMICS VIEWER; ESTROGEN-RECEPTOR-ALPHA; NEGATIVE BREAST-CANCER; STEM-CELLS; KERATIN EXPRESSION; ROCK INHIBITOR; MOUSE MODEL; ER-ALPHA; GENE AB The impact of different culture conditions on biology of primary cancer cells is not always addressed. Here, conditional reprogramming (CRC) was compared with mammary-optimized EpiCult-B (EpiC) for primary mammary epithelial cell isolation and propagation, allograft generation, and genome-wide transcriptional consequences using cancer and non-cancer mammary tissue from mice with different dosages of Brca1 and p53. Selective comparison to DMEM was included. Primary cultures were established with all three media, but CRC was most efficient for initial isolation (P < 0.05). Allograft development was faster using cells grown in EpiC compared with CRC (P < 0.05). Transcriptome comparison of paired CRC and EpiC cultures revealed 1700 differentially expressed genes by passage 20. CRC promoted Trp53 gene family upregulation and increased expression of epithelial differentiation genes, whereas EpiC elevated expression of epithelial-mesenchymal transition genes. Differences did not persist in allografts where both methods yielded allografts with relatively similar transcriptomes. Restricting passage (<7) reduced numbers of differentially expressed genes below 50. In conclusion, CRC was most efficient for initial cell isolation but EpiC was quicker for allograft generation. The extensive culture-specific gene expression patterns that emerged with longer passage could be limited by reducing passage number when both culture transcriptomes were equally similar to that of the primary tissue. Defining impact of culture condition and passage on the transcriptome of primary cells could assist experimental design and interpretation. For example, differences that appear with passage and culture condition are potentially exploitable for comparative studies targeting specific biological networks in different transcriptional environments. C1 [Alamri, Ahmad M.; Groeneveld, Svenja; Wang, Weisheng; Furth, Priscilla A.] Georgetown Univ, Dept Oncol, Lombardi Comprehens Canc Ctr, Washington, DC 20057 USA. [Alamri, Ahmad M.] King Khalid Univ, Dept Clin Lab Sci, Coll Appl Med Sci, Abha, Saudi Arabia. [Kang, Keunsoo; Hennighausen, Lothar] Natl Inst Diabet & Digest & Kidney Dis, Lab Genet & Physiol, NIH, 8 Ctr Dr, Bethesda, MD USA. [Kang, Keunsoo] Dankook Univ, Dept Microbiol, Cheonan, South Korea. [Groeneveld, Svenja] Univ Munich, Dept Pharm, Munich, Germany. [Zhong, Xiaogang] Georgetown Univ, Dept Biostat Bioinformat & Biomath, Washington, DC USA. [Kallakury, Bhaskar; Liu, Xuefeng] Georgetown Univ, Dept Pathol, Lombardi Comprehens Canc Ctr, Washington, DC USA. [Furth, Priscilla A.] Georgetown Univ, Dept Med, Lombardi Comprehens Canc Ctr, Washington, DC 20057 USA. RP Furth, PA (reprint author), Georgetown Univ, Dept Oncol, Lombardi Comprehens Canc Ctr, Washington, DC 20057 USA.; Furth, PA (reprint author), Georgetown Univ, Dept Med, Lombardi Comprehens Canc Ctr, Washington, DC 20057 USA. EM Paf3@georgetown.edu FU NIH NCI [RO1 CA112176, 5P30CA051008]; Intramural Research Program of NIDDK/NIH; King Khalid University, Abha, Saudi Arabia FX Research performed here was supported by NIH NCI RO1 CA112176 (PAF), NIH NCI 5P30CA051008 (Histology and Tissue, Genomics and Epigenomics, and Animal Shared Resources), the Intramural Research Program of NIDDK/NIH, and King Khalid University, Abha, Saudi Arabia (AMA). NR 58 TC 0 Z9 0 U1 3 U2 3 PU BIOSCIENTIFICA LTD PI BRISTOL PA EURO HOUSE, 22 APEX COURT WOODLANDS, BRADLEY STOKE, BRISTOL BS32 4JT, ENGLAND SN 1351-0088 EI 1479-6821 J9 ENDOCR-RELAT CANCER JI Endocr.-Relat. Cancer PD JUL PY 2016 VL 23 IS 7 BP 535 EP 554 DI 10.1530/ERC-16-0071 PG 20 WC Oncology; Endocrinology & Metabolism SC Oncology; Endocrinology & Metabolism GA DX2HD UT WOS:000384187900004 PM 27267121 ER PT J AU Gul, M Katz, J Chaudhry, AA Hannah-Shmouni, F Skarulis, M Cochran, CS AF Gul, Maryam Katz, James Chaudhry, Ammar A. Hannah-Shmouni, Fady Skarulis, Monica Cochran, Craig S. TI Clinical Images: Rheumatologic and imaging manifestations of thyroid acropachy SO ARTHRITIS & RHEUMATOLOGY LA English DT Editorial Material C1 [Gul, Maryam; Katz, James; Hannah-Shmouni, Fady; Skarulis, Monica; Cochran, Craig S.] NIH, Bethesda, MD 20892 USA. [Chaudhry, Ammar A.] Johns Hopkins Univ, Baltimore, MD USA. RP Gul, M (reprint author), NIH, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2326-5191 EI 2326-5205 J9 ARTHRITIS RHEUMATOL JI Arthritis Rheumatol. PD JUL PY 2016 VL 68 IS 7 BP 1636 EP 1636 DI 10.1002/art.39693 PG 1 WC Rheumatology SC Rheumatology GA DW2UO UT WOS:000383497500010 PM 27014857 ER PT J AU Gupta, S Tatouli, IP Rosen, LB Hasni, S Alevizos, I Manna, ZG Rivera, J Jiang, C Siegel, RM Holland, SM Moutsopoulos, HM Browne, SK AF Gupta, Sarthak Tatouli, Ioanna P. Rosen, Lindsey B. Hasni, Sarfaraz Alevizos, Ilias Manna, Zerai G. Rivera, Juan Jiang, Chao Siegel, Richard M. Holland, Steven M. Moutsopoulos, Haralampos M. Browne, Sarah K. TI Distinct Functions of Autoantibodies Against Interferon in Systemic Lupus Erythematosus A Comprehensive Analysis of Anticytokine Autoantibodies in Common Rheumatic Diseases SO ARTHRITIS & RHEUMATOLOGY LA English DT Article ID PULMONARY ALVEOLAR PROTEINOSIS; COLONY-STIMULATING FACTOR; ANTI-CYTOKINE AUTOANTIBODIES; IFN-GAMMA; MICROARRAY ANALYSIS; RITUXIMAB THERAPY; REVISED CRITERIA; GENE-EXPRESSION; ALPHA; AUTOIMMUNITY AB Objective. Anticytokine autoantibodies occur across a range of hematologic, pulmonary, and infectious diseases. However, systematic investigation of their presence and significance in autoimmune diseases is lacking. This study was undertaken to examine the distinct functions of anticytokine autoantibodies in patients with systemic lupus erythematosus (SLE) compared to patients with other rheumatic diseases and healthy controls. Methods. Serum samples from patients with SLE (n=199), patients with primary Sjogren's syndrome (SS) (n=150), patients with rheumatoid arthritis (RA) (n5149), and healthy controls (n=200) were screened for 24 anticytokine autoantibodies using a multiplex bead-based assay. To evaluate the biologic activity of anticytokine autoantibodies, their ability to block cytokine-induced signal transduction or protein expression was measured. RNA sequencing was performed on whole blood in a subset of healthy controls and patients with SLE. Results. Patients with SLE and those with SS had a striking excess of autoantibodies against interferons and the interferon-responsive chemokine interferon-inducible protein 10 (IP-10). Only autoantibodies against type I interferon, interleukin-12 (IL-12), and IL-22 exhibited neutralizing activity. In SLE, the presence of antiinterferon-gamma autoantibodies was correlated with more severe disease activity, higher levels of anti-doublestranded DNA antibodies, and elevated expression of interferon-a/b-inducible genes. Conversely, in SLE patients with blocking anti-interferon-a autoantibodies, the type I interferon gene expression signature was normalized. Anti-type III interferon autoantibodies (lambda(2), lambda(3)) and anti-IP-10 autoantibodies were newly recognized in SLE patient serum, and autoantibodies against macrophagecolony stimulating factor, IL-4, IL-7, IL-17, and IL-22, none of which have been previously identified in rheumatic conditions, were discovered. Conclusion. Anticytokine autoantibodies are associated with distinct patterns of disease in SLE, SS, and RA. Anti-interferon autoantibodies are overrepresented in patients with SLE and those with SS, and fall into distinct functional classes, with only a subset of anti-type I interferon antibodies exhibiting neutralizing activity. Anti-interferon-gamma autoantibodies are correlated with increased disease activity and interferon-related gene expression, suggesting that such autoantibodies may contribute to the pathogenesis of SLE. C1 [Gupta, Sarthak; Rosen, Lindsey B.; Holland, Steven M.; Browne, Sarah K.] NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Gupta, Sarthak; Siegel, Richard M.] NIAMSD, NIH, Bethesda, MD 20892 USA. [Tatouli, Ioanna P.; Moutsopoulos, Haralampos M.] Natl Univ Athens, Athens, Greece. [Rosen, Lindsey B.; Holland, Steven M.; Browne, Sarah K.] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hasni, Sarfaraz; Manna, Zerai G.; Rivera, Juan; Jiang, Chao] Natl Ctr Complementary & Integrat Hlth, NIH, Bethesda, MD USA. [Alevizos, Ilias] Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA. RP Holland, SM (reprint author), NIAID, Lab Clin Infect Dis, NIH, CRC B3-4141,MSC 1684, Bethesda, MD 20892 USA.; Moutsopoulos, HM (reprint author), Natl Univ Athens, Sch Med, Dept Pathophysiol, 75 M Asias St, Athens 11527, Greece. EM smh@nih.gov; hmoutsop@med.uoa.gr FU Divisions of the Intramural Research Program at the National Institute of Allergy and Infectious Diseases; National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH; Rheumatology Research Foundation Scientist Development Award FX Supported by the Divisions of the Intramural Research Program at the National Institute of Allergy and Infectious Diseases and National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH. Dr. Gupta is recipient of a Rheumatology Research Foundation Scientist Development Award. NR 49 TC 0 Z9 0 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2326-5191 EI 2326-5205 J9 ARTHRITIS RHEUMATOL JI Arthritis Rheumatol. PD JUL PY 2016 VL 68 IS 7 BP 1677 EP 1687 DI 10.1002/art.39607 PG 11 WC Rheumatology SC Rheumatology GA DW2UO UT WOS:000383497500015 PM 26815287 ER PT J AU Fradkin, JE Hanlon, MC Rodgers, GP AF Fradkin, Judith E. Hanlon, Mary C. Rodgers, Griffin P. TI NIH Precision Medicine Initiative: Implications for Diabetes Research SO DIABETES CARE LA English DT Article ID DISEASE AB In his January 2015 State of the Union address, President Barack Obama announced a new Precision Medicine Initiative (PMI) to personalize approaches toward improving health and treating disease (www.whitehouse.gov/precisionmedicine). He stated that the goal of such an initiative was "to bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier." Since that time, the National Institutes of Health (NIH) has taken a leadership role in implementing the President's vision related to biomedical research (www.nih.gov/precisionmedicine). Here, we discuss the NIH component of the PMI, related ongoing diabetes research, and near-term research that could position the diabetes field to take full advantage of the opportunities that stem from the PMI. C1 [Fradkin, Judith E.] NIDDK, Div Diabet Endocrinol & Metab Dis, NIH, Bethesda, MD 20892 USA. [Hanlon, Mary C.] NIDDK, Off Sci Program & Policy Anal, NIH, Bethesda, MD 20892 USA. [Rodgers, Griffin P.] NIDDK, NIH, Bethesda, MD 20892 USA. RP Fradkin, JE (reprint author), NIDDK, Div Diabet Endocrinol & Metab Dis, NIH, Bethesda, MD 20892 USA. EM fradkinj@mail.nih.gov NR 20 TC 5 Z9 5 U1 2 U2 3 PU AMER DIABETES ASSOC PI ALEXANDRIA PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA SN 0149-5992 EI 1935-5548 J9 DIABETES CARE JI Diabetes Care PD JUL PY 2016 VL 39 IS 7 BP 1080 EP 1084 DI 10.2337/dc16-0541 PG 5 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DT3YG UT WOS:000381416500012 PM 27289128 ER PT J AU Chew, EY Lovato, JF Davis, MD Gerstein, HC Danis, RP Ismail-Beigi, F Genuth, S Greven, CM Perdue, LH Cushman, WC Elam, MB Bigger, JT Ginsberg, HN Goff, DC Ambrosius, WT AF Chew, Emily Y. Lovato, James F. Davis, Matthew D. Gerstein, Hertzel C. Danis, Ronald P. Ismail-Beigi, Faramarz Genuth, Saul Greven, Craig M. Perdue, Letitia H. Cushman, William C. Elam, Marshall B. Bigger, J. Thomas Ginsberg, Henry N. Goff, David C., Jr. Ambrosius, Walter T. CA Action Control Cardiovasc Risk Action Control Cardiovasc Risk TI Persistent Effects of Intensive Glycemic Control on Retinopathy in Type 2 Diabetes in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Follow-On Study SO DIABETES CARE LA English DT Article ID THERAPY; FENOFIBRATE; PROGRESSION; TRIAL; MELLITUS; OUTCOMES AB OBJECTIVES This study investigated whether the beneficial effects of intensive glycemic control and fenofibrate treatment of dyslipidemia in reducing retinopathy progression demonstrated in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Eye Study persisted beyond the clinical trial. RESEARCH DESIGN AND METHODS The ACCORD Study (2003-2009) randomized participants with type 2 diabetes to intensive or standard treatment for glycemia (A1C level at <6.0% [42 mmol/mol] vs. 7.0-7.9% [53-63 mmol/mol]), systolic blood pressure (<120 vs. 140 mmHg), and dyslipidemia (fenofibrate [160 mg] plus simvastatin or placebo plus simvastatin). ACCORD Eye Study participants, who had baseline and year 4 eye examinations and fundus photographs, were reexamined in the ACCORD Follow-On (ACCORDION) Eye Study (2010-2014) 4 years after the ACCORD trial closeout. The outcome measure was diabetic retinopathy progression of three or more steps on the Early Treatment Diabetic Retinopathy Study scale. RESULTS Diabetic retinopathy progressed in 5.8% with intensive glycemic treatment versus 12.7% with standard (adjusted odds ratio [aOR] 0.42, 95% CI 0.28-0.63, P < 0.0001), 7.5% with intensive blood pressure treatment versus 6.0% for standard (aOR 1.21, 95% CI 0.61-2.40, P = 0.59), and 11.8% with fenofibrate versus 10.2% with placebo (aOR 1.13, 95% CI 0.71-1.79, P = 0.60) in ACCORDION Eye participants (n = 1,310). CONCLUSIONS Prior intensive glycemic control continued to reduce diabetic retinopathy progression, despite similar A1C levels, when the ACCORD Study ended. This is the first study in people with type 2 diabetes of 10 years' duration and established cardiovascular disease, unlike the newly diagnosed participants of the UK Prospective Diabetes Study, to demonstrate this effect. The benefit of fenofibrate, however, did not persist. Intensive blood pressure control had no effect. C1 [Chew, Emily Y.] NEI, NIH, Bethesda, MD 20892 USA. [Lovato, James F.; Greven, Craig M.; Perdue, Letitia H.; Ambrosius, Walter T.] Wake Forest Univ, Bowman Gray Sch Med, Winston Salem, NC USA. [Davis, Matthew D.; Danis, Ronald P.] Univ Wisconsin, Madison, WI USA. [Gerstein, Hertzel C.] McMaster Univ, Hamilton, ON, Canada. [Gerstein, Hertzel C.] Hamilton Hlth Sci, Populat Hlth Res Inst, Hamilton, ON, Canada. [Ismail-Beigi, Faramarz; Genuth, Saul] Case Western Reserve Univ, Cleveland, OH 44106 USA. [Elam, Marshall B.] Memphis Vet Affairs Med Ctr, Memphis, TN USA. [Bigger, J. Thomas; Ginsberg, Henry N.] Columbia Univ Coll Phys & Surg, 630 W 168th St, New York, NY 10032 USA. [Goff, David C., Jr.] Colorado Sch Publ Hlth, Aurora, CO USA. RP Chew, EY (reprint author), NEI, NIH, Bethesda, MD 20892 USA. EM echew@nei.nih.gov FU National Heart, Lung, and Blood Institute [N01-HC-95178, N01-HC-95179, N01-HC-95180, N01-HC-95181, N01-HC-95182, N01-HC-95183, N01-HC-95184, HHSN268201100027C]; IAA [Y1-HC-9035, Y1-HC-1010]; National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute on Aging; National Eye Institute; Centers for Disease Control and Prevention FX ACCORD was supported by National Heart, Lung, and Blood Institute contracts N01-HC-95178, N01-HC-95179, N01-HC-95180, N01-HC-95181, N01-HC-95182, N01-HC-95183, N01-HC-95184, IAA #Y1-HC-9035, and IAA#Y1-HC-1010. Other components of the National Institutes of Health, including the National Institute of Diabetes and Digestive and Kidney Diseases, the National Institute on Aging, and the National Eye Institute, contributed funding. The Centers for Disease Control and Prevention funded substudies within ACCORD on cost-effectiveness and health-related quality of life. General Clinical Research Centers provide support at many sites. ACCORDION activities were supported by National Heart, Lung, and Blood Institute contract HHSN268201100027C. NR 23 TC 0 Z9 0 U1 1 U2 1 PU AMER DIABETES ASSOC PI ALEXANDRIA PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA SN 0149-5992 EI 1935-5548 J9 DIABETES CARE JI Diabetes Care PD JUL PY 2016 VL 39 IS 7 BP 1089 EP 1100 DI 10.2337/dc16-0024 PG 12 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DT3YG UT WOS:000381416500014 ER PT J AU Purnell, JQ Selzer, F Wahed, AS Pender, J Pories, W Pomp, A Dakin, G Mitchell, J Garcia, L Staten, MA McCloskey, C Cummings, DE Flum, DR Courcoulas, A Wolfe, BM AF Purnell, Jonathan Q. Selzer, Faith Wahed, Abdus S. Pender, John Pories, Walter Pomp, Alfons Dakin, Greg Mitchell, James Garcia, Luis Staten, Myrlene A. McCloskey, Carol Cummings, David E. Flum, David R. Courcoulas, Anita Wolfe, Bruce M. TI Type 2 Diabetes Remission Rates After Laparoscopic Gastric Bypass and Gastric Banding: Results of the Longitudinal Assessment of Bariatric Surgery Study SO DIABETES CARE LA English DT Article ID MORBIDLY OBESE-PATIENTS; WEIGHT-LOSS; INSULIN SENSITIVITY; INCRETIN LEVELS; BILE-ACIDS; LEPTIN; MELLITUS; GLUCOSE; METAANALYSIS; OUTCOMES AB OBJECTIVE The goals of this study were to determine baseline and postbariatric surgical characteristics associated with type 2 diabetes remission and if, after controlling for differences in weight loss, diabetes remission was greater after Roux-en-Y gastric bypass (RYGBP) than laparoscopic gastric banding (LAGB). RESEARCH DESIGN AND METHODS An observational cohort of obese participants was studied using generalized linear mixed models to examine the associations of bariatric surgery type and diabetes remission rates for up to 3 years. Of 2,458 obese participants enrolled, 1,868 (76%) had complete data to assess diabetes status at both baseline and at least one follow-up visit. Of these, 627 participants (34%) were classified with diabetes: 466 underwent RYGBP and 140 underwent LAGB. RESULTS After 3 years, 68.7% of RYGBP and 30.2% of LAGB participants were in diabetes remission. Baseline factors associated with diabetes remission included a lower weight for LAGB, greater fasting C-peptide, lower leptin-to-fat mass ratio for RYGBP, and a lower hemoglobin A(1c) without need for insulin for both procedures. After both procedures, greater postsurgical weight loss was associated with remission. However, even after controlling for differences in amount of weight lost, relative diabetes remission rates remained nearly twofold higher after RYGBP than LAGB. CONCLUSIONS Diabetes remission up to 3 years after RYGBP and LAGB was proportionally higher with increasing postsurgical weight loss. However, the nearly twofold greater weight loss-adjusted likelihood of diabetes remission in subjects undergoing RYGBP than LAGB suggests unique mechanisms contributing to improved glucose metabolism beyond weight loss after RYGBP. C1 [Purnell, Jonathan Q.; Wolfe, Bruce M.] Oregon Hlth & Sci Univ, Dept Med, Portland, OR 97201 USA. [Purnell, Jonathan Q.; Wolfe, Bruce M.] Oregon Hlth & Sci Univ, Dept Surg, Portland, OR 97201 USA. [Selzer, Faith; Wahed, Abdus S.] Univ Pittsburgh, Grad Sch Publ Hlth, Pittsburgh, PA USA. [Pender, John; Pories, Walter] East Carolina Univ, Brody Sch Med, Greenville, NC USA. [Pomp, Alfons; Dakin, Greg] Weill Cornell Med Coll, New York, NY USA. [Mitchell, James; Garcia, Luis] Neuropsychiat Res Inst, Grand Forks, ND USA. [Mitchell, James; Garcia, Luis] Univ North Dakota, Sch Med & Hlth Sci, Grand Forks, ND USA. [Staten, Myrlene A.] NIDDK, Bethesda, MD 20892 USA. [McCloskey, Carol; Courcoulas, Anita] Univ Pittsburgh, Med Ctr, Dept Surg, Pittsburgh, PA USA. [Cummings, David E.; Flum, David R.] Univ Washington, Dept Med, Seattle, WA USA. [Cummings, David E.; Flum, David R.] Univ Washington, Dept Surg, Seattle, WA 98195 USA. RP Purnell, JQ (reprint author), Oregon Hlth & Sci Univ, Dept Med, Portland, OR 97201 USA.; Purnell, JQ (reprint author), Oregon Hlth & Sci Univ, Dept Surg, Portland, OR 97201 USA. EM purnellj@ohsu.edu FU National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [DCC-U01-DK066557]; Cornell University Medical Center Clinical Translational Research Center (CTRC) [U01-DK66667, UL1-RR024996]; University of Washington [U01-DK66568]; CTRC [UL1-RR024153, M01RR-00037]; Neuropsychiatric Research Institute [U01-DK66471]; East Carolina University [U01-DK66526]; University of Pittsburgh Medical Center [U01-DK66585]; Oregon Health & Science University [U01-DK66555] FX This clinical study was a cooperative agreement funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (DCC-U01-DK066557; Columbia, U01-DK66667 [in collaboration with Cornell University Medical Center Clinical Translational Research Center (CTRC), UL1-RR024996]; University of Washington, U01-DK66568 [in collaboration with CTRC, M01RR-00037]; Neuropsychiatric Research Institute, U01-DK66471; East Carolina University, U01-DK66526; University of Pittsburgh Medical Center, U01-DK66585 [in collaboration with CTRC, UL1-RR024153]; Oregon Health & Science University, U01-DK66555). NR 32 TC 5 Z9 5 U1 0 U2 0 PU AMER DIABETES ASSOC PI ALEXANDRIA PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA SN 0149-5992 EI 1935-5548 J9 DIABETES CARE JI Diabetes Care PD JUL PY 2016 VL 39 IS 7 BP 1101 EP 1107 DI 10.2337/dc15-2138 PG 7 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DT3YG UT WOS:000381416500015 PM 27289123 ER PT J AU Cefalu, WT Buse, JB Tuomilehto, J Fleming, GA Ferrannini, E Gerstein, HC Bennett, PH Ramachandran, A Raz, I Rosenstock, J Kahn, SE AF Cefalu, William T. Buse, John B. Tuomilehto, Jaakko Fleming, G. Alexander Ferrannini, Ele Gerstein, Hertzel C. Bennett, Peter H. Ramachandran, Ambady Raz, Itamar Rosenstock, Julio Kahn, Steven E. TI Update and Next Steps for Real-World Translation of Interventions for Type 2 Diabetes Prevention: Reflections From a Diabetes Care Editors' Expert Forum SO DIABETES CARE LA English DT Article ID IMPAIRED GLUCOSE-TOLERANCE; LIFE-STYLE INTERVENTION; RANDOMIZED-CONTROLLED-TRIAL; CORONARY-HEART-DISEASE; 10-YEAR FOLLOW-UP; BETA-CELL FUNCTION; DA QING IGT; FASTING GLUCOSE; INSULIN-SECRETION; PROGRAM OUTCOMES AB The International Diabetes Federation estimates that 415 million adults worldwide now have diabetes and 318 million have impaired glucose tolerance. These numbers are expected to increase to 642 million and 482 million, respectively, by 2040. This burgeoning pandemic places an enormous burden on countries worldwide, particularly resource-poor regions. Numerous landmark trials evaluating both intensive lifestyle modification and pharmacological interventions have persuasively demonstrated that type 2 diabetes can be prevented or its onset can be delayed in high-risk individuals with impaired glucose tolerance. However, key challenges remain, including how to scale up such approaches for widespread translation and implementation, how to select appropriately from various interventions and tailor them for different populations and settings, and how to ensure that preventive interventions yield clinically meaningful, cost-effective outcomes. In June 2015, a Diabetes Care Editors' Expert Forum convened to discuss these issues. This article, an outgrowth of the forum, begins with a summary of seminal prevention trials, followed by a discussion of considerations for selecting appropriate populations for intervention and the clinical implications of the various diagnostic criteria for prediabetes. The authors outline knowledge gaps in need of elucidation and explore a possible new avenue for securing regulatory approval of a prevention-related indication for metformin, as well as specific considerations for future pharmacological interventions to delay the onset of type 2 diabetes. They conclude with descriptions of some innovative, pragmatic translational initiatives already under way around the world. C1 [Cefalu, William T.] Louisiana State Univ, Pennington Biomed Res Ctr, Baton Rouge, LA 70808 USA. [Buse, John B.] Univ N Carolina, Sch Med, Chapel Hill, NC USA. [Tuomilehto, Jaakko] Natl Inst Hlth & Welf, Chron Dis Prevent Unit, Helsinki, Finland. [Tuomilehto, Jaakko] Dasman Diabet Inst, Dasman, Kuwait. [Tuomilehto, Jaakko] King Abdulaziz Univ, Saudi Diabet Res Grp, Jeddah, Saudi Arabia. [Tuomilehto, Jaakko] Danube Univ Krems, Ctr Vasc Prevent, Krems, Austria. [Fleming, G. Alexander] Kinexum, Harpers Ferry, WV USA. [Ferrannini, Ele] CNR, Inst Clin Physiol, Pisa, Italy. [Gerstein, Hertzel C.] McMaster Univ, Hamilton, ON, Canada. [Gerstein, Hertzel C.] Hamilton Hlth Sci, Hamilton, ON, Canada. [Bennett, Peter H.] NIH, Phoenix, AZ USA. [Ramachandran, Ambady] India Diabet Res Fdn, Madras, Tamil Nadu, India. [Bennett, Peter H.] Dr A Ramachandrans Diabet Hosp, Madras, Tamil Nadu, India. [Raz, Itamar] Hadassah Hebrew Univ Hosp, Dept Internal Med, Diabet Unit, Jerusalem, Israel. [Rosenstock, Julio] Med City, Dallas Diabet & Endocrine Ctr, Dallas, TX USA. [Rosenstock, Julio] Univ Texas Southwestern Med Ctr, Dallas, TX USA. [Kahn, Steven E.] VA Puget Sound Hlth Care Syst, Seattle, WA USA. [Kahn, Steven E.] Univ Washington, Seattle, WA 98195 USA. RP Cefalu, WT (reprint author), Louisiana State Univ, Pennington Biomed Res Ctr, Baton Rouge, LA 70808 USA. EM william.cefalu@pbrc.edu OI Kahn, Steven/0000-0001-7307-9002 FU National Institutes of Health (NIH) [1U54-GM-104940]; NIH [P50-AT-002776] FX Writing and editing support services for this article were provided by Debbie Kendall of Kendall Editorial in Richmond, VA. The Editorial Committee recognizes that the work of the journal and contributions such as this Expert Forum would not be possible without the dedicated work and continued support of many individuals. Specifically, the planning, logistics, and funding of the meeting and the incredible editorial support would not have been possible without the tireless efforts of Chris Kohler and his staff at the ADA Publishing office. In addition, the Editorial Committee thanks Lyn Reynolds and her staff in the ADA editorial office for support and Anne Gooch at the Pennington Biomedical Research Center for her valuable assistance in helping to organize the Expert Forum. W.T.C. is supported in part by National Institutes of Health (NIH) grant 1U54-GM-104940, which funds the Louisiana Clinical and Translational Science Center, and NIH grant P50-AT-002776. NR 138 TC 5 Z9 5 U1 2 U2 2 PU AMER DIABETES ASSOC PI ALEXANDRIA PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA SN 0149-5992 EI 1935-5548 J9 DIABETES CARE JI Diabetes Care PD JUL PY 2016 VL 39 IS 7 BP 1186 EP 1201 DI 10.2337/dc16-0873 PG 16 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DT3YG UT WOS:000381416500027 PM 27631469 ER PT J AU Hering, BJ Clarke, WR Bridges, ND Eggerman, TL Alejandro, R Bellin, MD Chaloner, K Czarniecki, CW Goldstein, JS Hunsicker, LG Kaufman, DB Korsgren, O Larsen, CP Luo, XR Markmann, JF Naji, A Oberholzer, J Posselt, AM Rickels, MR Ricordi, C Robien, MA Senior, PA Shapiro, AMJ Stock, PG Turgeon, NA AF Hering, Bernhard J. Clarke, William R. Bridges, Nancy D. Eggerman, Thomas L. Alejandro, Rodolfo Bellin, Melena D. Chaloner, Kathryn Czarniecki, Christine W. Goldstein, Julia S. Hunsicker, Lawrence G. Kaufman, Dixon B. Korsgren, Olle Larsen, Christian P. Luo, Xunrong Markmann, James F. Naji, Ali Oberholzer, Jose Posselt, Andrew M. Rickels, Michael R. Ricordi, Camillo Robien, Mark A. Senior, Peter A. Shapiro, A. M. James Stock, Peter G. Turgeon, Nicole A. CA Clinical Islet Transplantation Con TI Phase 3 Trial of Transplantation of Human Islets in Type 1 Diabetes Complicated by Severe Hypoglycemia SO DIABETES CARE LA English DT Article ID EXCHANGE CLINIC REGISTRY; INSULIN PUMP THERAPY; PANCREAS TRANSPLANTATION; GLYCEMIC CONTROL; CURRENT STATE; AWARENESS; ADULTS; MELLITUS; OUTCOMES; IDDM AB OBJECTIVE Impaired awareness of hypoglycemia (IAH) and severe hypoglycemic events (SHEs) cause substantial morbidity and mortality in patients with type 1 diabetes (T1D). Current therapies are effective in preventing SHEs in 50-80% of patients with IAH and SHEs, leaving a substantial number of patients at risk. We evaluated the effectiveness and safety of a standardized human pancreatic islet product in subjects in whom IAH and SHEs persisted despite medical treatment. RESEARCH DESIGN AND METHODS This multicenter, single-arm, phase 3 study of the investigational product purified human pancreatic islets (PHPI) was conducted at eight centers in North America. Forty-eight adults with T1D for >5 years, absent stimulated C-peptide, and documented IAH and SHEs despite expert care were enrolled. Each received immunosuppression and one or more transplants of PHPI, manufactured on-site under good manufacturing practice conditions using a common batch record and standardized lot release criteria and test methods. The primary end point was the achievement of HbA(1c) <7.0% (53 mmol/mol) at day 365 and freedom from SHEs from day 28 to day 365 after the first transplant. RESULTS The primary end point was successfully met by 87.5% of subjects at 1 year and by 71% at 2 years. The median HbA(1c) level was 5.6% (38 mmol/mol) at both 1 and 2 years. Hypoglycemia awareness was restored, with highly significant improvements in Clarke and HYPO scores (P > 0.0001). No study-related deaths or disabilities occurred. Five of the enrollees (10.4%) experienced bleeds requiring transfusions (corresponding to 5 of 75 procedures), and two enrollees (4.1%) had infections attributed to immunosuppression. Glomerular filtration rate decreased significantly on immunosuppression, and donor-specific antibodies developed in two patients. CONCLUSIONS Transplanted PHPI provided glycemic control, restoration of hypoglycemia awareness, and protection from SHEs in subjects with intractable IAH and SHEs. Safety events occurred related to the infusion procedure and immunosuppression, including bleeding and decreased renal function. Islet transplantation should be considered for patients with T1D and IAH in whom other, less invasive current treatments have been ineffective in preventing SHEs. C1 [Hering, Bernhard J.; Bellin, Melena D.] Univ Minnesota, Schulze Diabet Inst, Minneapolis, MN 55455 USA. [Hering, Bernhard J.] Univ Minnesota, Dept Surg, Box 242 UMHC, Minneapolis, MN 55455 USA. [Clarke, William R.; Chaloner, Kathryn; Hunsicker, Lawrence G.] Univ Iowa, Clin Trials Stat & Data Management Ctr, Iowa City, IA USA. [Bridges, Nancy D.; Czarniecki, Christine W.; Goldstein, Julia S.; Robien, Mark A.] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Eggerman, Thomas L.] NIDDK, NIH, Bethesda, MD 20892 USA. [Alejandro, Rodolfo; Ricordi, Camillo] Univ Miami, Miller Sch Med, Diabet Res Inst, Miami, FL 33136 USA. [Bellin, Melena D.] Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA. [Kaufman, Dixon B.] Univ Wisconsin, Dept Surg, Div Transplantat, Madison, WI USA. [Korsgren, Olle] Uppsala Univ, Dept Immunol Genet & Pathol, Uppsala, Sweden. [Larsen, Christian P.; Turgeon, Nicole A.] Emory Univ, Emory Transplant Ctr, Atlanta, GA 30322 USA. [Luo, Xunrong] Northwestern Univ, Feinberg Sch Med, Comprehens Transplant Ctr, Chicago, IL 60611 USA. [Markmann, James F.] Harvard Med Sch, Massachusetts Gen Hosp, Div Transplant Surg, Boston, MA USA. [Naji, Ali; Rickels, Michael R.] Univ Penn, Perelman Sch Med, Inst Diabet Obes & Metab, Philadelphia, PA 19104 USA. [Naji, Ali; Rickels, Michael R.] Univ Penn, Perelman Sch Med, Dept Surg, Philadelphia, PA 19104 USA. [Naji, Ali; Rickels, Michael R.] Univ Penn, Perelman Sch Med, Dept Med, Philadelphia, PA 19104 USA. [Oberholzer, Jose] Univ Illinois Hosp & Hlth Sci Syst, Div Transplantat, Chicago, IL USA. [Posselt, Andrew M.; Stock, Peter G.] Univ Calif San Francisco, Dept Surg, San Francisco, CA USA. [Senior, Peter A.; Shapiro, A. M. James] Univ Alberta, Clin Islet Transplant Program, Edmonton, AB, Canada. [Senior, Peter A.; Shapiro, A. M. James] Univ Alberta, Fac Med & Dent, Edmonton, AB, Canada. RP Hering, BJ (reprint author), Univ Minnesota, Schulze Diabet Inst, Minneapolis, MN 55455 USA.; Hering, BJ (reprint author), Univ Minnesota, Dept Surg, Box 242 UMHC, Minneapolis, MN 55455 USA. EM bhering@umn.edu OI Ricordi, Camillo/0000-0001-8092-7153 FU National Institute of Allergy and Infectious Diseases; National Institute for Diabetes and Digestive and Kidney Diseases [U01-AI-089317, U01-AI-089316, U01-AI-065191, U01-DK-085531, 5U01-DK-070431-10, U01-DK-070431, U01-DK070460, U01-AI-065193, U01-DK-070430, U01-AI-065192]; General Clinical Research Center Awards and Clinical and Translational Science Awards [UL1-TR-000454, 5UL1-RR-025741, 8UL1-TR-000150, UL1-TR-000004, UL1-TR-000050, 1UL1-TR-000460, 5M01-RR-000400, UL1-TR-000114, M01-RR-00040, UL1-TR-000003]; National Institute of Allergy and Infectious Diseases of the National Institutes of Health [NO1-AI-15416, UM1-AI-109565] FX This research was supported by grants from the National Institute of Allergy and Infectious Diseases and the National Institute for Diabetes and Digestive and Kidney Diseases to the following institutions: Emory University (Atlanta, GA), U01-AI-089317; Northwestern University (Evanston, IL), U01-AI-089316; University of Alberta(Edmonton, Alberta, Canada), U01-AI-065191; University of California, San Francisco (San Francisco, CA) U01-DK-085531; University of Illinois, Chicago(Chicago, IL), 5U01-DK-070431-10; University of Iowa (Iowa City, IA), U01-DK-070431; University of Miami (Miami, FL), U01-DK070460; University of Minnesota (Minneapolis, MN), U01-AI-065193; University of Pennsylvania (Philadelphia, PA), U01-DK-070430; and Uppsala University (Uppsala, Sweden), U01-AI-065192. In addition, the study was supported by the following General Clinical Research Center Awards and Clinical and Translational Science Awards: to Emory University, UL1-TR-000454; Northwestern University, 5UL1-RR-025741 and 8UL1-TR-000150; University of California, San Francisco, UL1-TR-000004; University of Illinois, Chicago, UL1-TR-000050; University of Miami, 1UL1-TR-000460; University of Minnesota, 5M01-RR-000400 and UL1-TR-000114; and University of Pennsylvania, M01-RR-00040 and UL1-TR-000003. TrialShare, a public database maintained by the Immune Tolerance Network, is supported by the National Institute of Allergy and Infectious Diseases of the National Institutes of Health under award numbers NO1-AI-15416 and UM1-AI-109565. NR 40 TC 19 Z9 19 U1 3 U2 3 PU AMER DIABETES ASSOC PI ALEXANDRIA PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA SN 0149-5992 EI 1935-5548 J9 DIABETES CARE JI Diabetes Care PD JUL PY 2016 VL 39 IS 7 BP 1230 EP 1240 DI 10.2337/dc15-1988 PG 11 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DT3YG UT WOS:000381416500032 PM 27208344 ER PT J AU Yeung, EH Sundaram, R Bell, EM Druschel, C Kus, C Xie, Y Louis, GMB AF Yeung, E. H. Sundaram, R. Bell, E. M. Druschel, C. Kus, C. Xie, Y. Louis, G. M. Buck TI Infertility treatment and children's longitudinal growth between birth and 3 years of age SO HUMAN REPRODUCTION LA English DT Article DE assisted reproductive technologies; infertility treatment; growth; infant weight gain; ovulation induction ID IN-VITRO FERTILIZATION; INTRACYTOPLASMIC SPERM INJECTION; ASSISTED REPRODUCTIVE TECHNOLOGY; PHYSICAL HEALTH; UPSTATE KIDS; BORN; WEIGHT; IVF; CHILDHOOD; FERTILITY AB STUDY QUESTION: Does early childhood growth from birth through to 3 years of age differ by mode of conception? SUMMARY ANSWER: Findings suggest early childhood growth was comparable for children irrespective of infertility treatment, but twins conceived with ovulation induction with or without intrauterine insemination (OI/IUI) were slightly smaller than twins conceived without treatment. WHAT IS KNOWN ALREADY: Although studies have found that babies conceived with infertility treatment are born lighter and earlier than infants conceived without treatment, little research especially forn on-assisted reproductive technology (ART) treatments has focused on their continued growth during early childhood. STUDY DESIGN, SIZE, DURATION: Upstate KIDS recruited infants born (2008-2010) to resident upstate New York mothers. Infants were sampled based on birth certificate indication of infertility treatment; specifically, for every singleton conceived by infertility treatment, three singletons without infertility treatment were recruited and matched on region of birth. All multiple births irrespective of treatment were also recruited. Children were prospectively followed, returning questionnaires every 4-6 months until 3 years of age. In total, 3905 singletons, 1129 sets of multiples (96% of whom were twins) enrolled into the study. Analyses included 3440 (88%) singletons (969 conceived with treatment; specifically, 433 with ART and 535 with OI/IUI) and 991 (88%) sets of multiples (439 conceived with treatment; specifically 233 with ART and 206 with OI/IUI) with growth data available. PARTICIPANTS/MATERIALS, SETTING, METHODS: Mothers reported infertility treatment use at baseline and children's height and weight from pediatric visits. Self-reported use of ART was previously verified by linkage with the US Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) database. Mixed linear models with cubic splines accounting for age and age-gender interactions were used to estimate mean differences in growth from birth to 3 years by infertility treatment status and adjusting for maternal age, race, education, private insurance, smoking status during pregnancy, maternal pre-pregnancy and paternal body mass indices (BMI). MAIN RESULTS AND THE ROLE OF CHANCE: Compared with singletons conceived without treatment (n = 2471), singletons conceived by infertility treatment (433 by assisted reproductive technologies(ART), 535 by OI/IUI and 1 unknown specific type) did not differ ingrowth. Compared with twins not conceived with treatment (n = 1076), twins conceived with OI/IUI (n = 368) weighed slightly less over follow-up (122 g). They were also proportionally smaller for their length (-0.17 weight-for-length z-score units). No differences in mean size over the 3 years were observed for twins conceived by ART, though some evidence of rapid weight gain from birth to 4 months (adjusted OR 1.08; 95% CI: 1.00-1.16) suggestive of catch up growth was observed. LIMITATIONS, REASONS FOR CAUTION: Participants from upstate New York may not be representative of US infants. Although accounted for in statistical analysis, attrition during follow-up may have limited power to detect small differences. WIDER IMPLICATIONS OF THE FINDINGS: This study is the first to prospectively track the growth of children conceived with and without infertility treatment in the USA, including a substantial number of twins. Our findings are similar to what was previously observed in the ART literature outside of the states. STUDY FUNDING/COMPETING INTEREST(S): Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD; contracts #HHSN275201200005C, #HHSN267200700019C). Authors have no competing interests to declare. C1 [Yeung, E. H.; Sundaram, R.; Xie, Y.; Louis, G. M. Buck] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Rockville, MD 20852 USA. [Bell, E. M.; Druschel, C.] SUNY Albany, Sch Publ Hlth, Dept Environm Hlth Sci, Albany, NY 12144 USA. [Bell, E. M.] SUNY Albany, Dept Epidemiol & Biostat, Sch Publ Hlth, Albany, NY 12144 USA. [Druschel, C.] New York State Dept Hlth, Ctr Environm Hlth, Bur Environm & Occupat Epidemiol, Albany, NY 12237 USA. [Kus, C.] New York State Dept Hlth, Div Family Hlth, Albany, NY 12237 USA. RP Yeung, EH (reprint author), 6710B Rockledge Dr,MSC7004, Bethesda, MD 20892 USA. EM yeungedw@mail.nih.gov OI Yeung, Edwina/0000-0002-3851-2613; Sundaram, Rajeshwari/0000-0002-6918-5002 FU Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [HHSN275201200005C, HHSN267200700019C] FX Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD; contracts #HHSN275201200005C, #HHSN267200700019C). NR 48 TC 0 Z9 0 U1 2 U2 3 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0268-1161 EI 1460-2350 J9 HUM REPROD JI Hum. Reprod. PD JUL PY 2016 VL 31 IS 7 BP 1621 EP 1628 DI 10.1093/humrep/dew106 PG 8 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA DV9EM UT WOS:000383242900029 PM 27165624 ER PT J AU Chuang, LT Randall, TC Denny, L Johnston, CM Schmeler, KM Covens, AL Cibula, D Bookman, MA Rawal, S DePetrillo, D Nam, JH Goodman, A Naik, R Manchanda, R Gaffney, DK Small, W Creutzberg, C Rattray, C Kesic, V Paraja, R Eiken, M Belleson, K Coleman, RL Barakat, RR Trimble, EL Quinn, M AF Chuang, Linus T. Randall, Thomas C. Denny, Lynette Johnston, Carolyn M. Schmeler, Kathleen M. Covens, Allan L. Cibula, David Bookman, Michael A. Rawal, Sudhir DePetrillo, Denny Nam, Joo-Hyun Goodman, Annekathryn Naik, Raj Manchanda, Ranjit Gaffney, David K. Small, William, Jr. Creutzberg, Carien Rattray, Carole Kesic, Vesna Paraja, Rene Eiken, Mary Belleson, Kristin Coleman, Robert L. Barakat, Richard R. Trimble, Edward L. Quinn, Michael TI Sister Society Meeting on Global Education Development and Collaboration Meeting Report SO INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER LA English DT Article DE Sister society; Low- and middle-income countries; Global education; Collaboration ID GYNECOLOGIC ONCOLOGY; HEALTH; SURGERY AB Objectives: To identify common barriers to teaching and training and to identify strategies that would be useful in developing future training programs in gynecologic oncology in low- and middle-income countries. Methods: There is a lack of overall strategy to meet the needs of education and training in gynecologic oncology in low- and middle-income countries, the leaderships of sister societies and global health volunteers met at the European Society of Gynecologic Oncology in October 23, 2015. The challenges of the training programs supported by gynecologic oncology societies, major universities and individual efforts were presented and discussed. Strategies to improve education and training were identified. Results: Major challenges include language barriers, limited surgical equipment, inadequate internet access, lack of local support for sustainability in training programs, inadequate pathology and radiation oncology, finance and a global deficiency in identifying sites and personnel in partnering or developing training programs. The leaderships identified various key components including consultation with the local Ministry of Health, local educational institutions; inclusion of the program into existing local programs, a needs assessment, and the development of curriculum and regional centers of excellence. Conclusions: Proper preparation of training sites and trainers, the development of global curriculum, the establishment of centers of excellence, and the ability to measure outcomes are important to improve education and training in gynecologic oncology in low- and middle- income countries. C1 [Chuang, Linus T.] Icahn Sch Med Mt Sinai, 1176 Fifth Ave,Box 1173, New York, NY 10029 USA. [Randall, Thomas C.; Goodman, Annekathryn] Harvard Med Sch, Massachusetts Gen Hosp, Boston, MA USA. [Denny, Lynette] Univ Cape Town, Schuur Hosp, ZA-7700 Rondebosch, South Africa. [Johnston, Carolyn M.] Univ Michigan, Ann Arbor, MI 48109 USA. [Schmeler, Kathleen M.; Coleman, Robert L.] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA. [Covens, Allan L.] Univ Toronto, Odette Canc Ctr, Toronto, ON M5S 1A1, Canada. [Cibula, David] Charles Univ Prague, Prague, Czech Republic. [Cibula, David] Gen Univ Hosp, Prague, Czech Republic. [Bookman, Michael A.] US Oncol Network, The Woodlands, TX USA. [Rawal, Sudhir] Rajiv Gandhi Canc Inst, New Delhi, India. [DePetrillo, Denny] Univ Toronto, CAREpath Canada, Toronto, ON M5S 1A1, Canada. [Nam, Joo-Hyun] Univ Ulsan, Coll Med, Seoul, South Korea. [Naik, Raj] Queen Elizabeth Hosp, Gateshead, England. [Manchanda, Ranjit] Queen Mary Univ London, Barts Canc Inst, London, England. [Gaffney, David K.] Univ Utah, Huntsman Canc Hosp, Salt Lake City, UT 84112 USA. [Small, William, Jr.] Loyola Univ, Stritch Sch Med, Chicago, IL 60611 USA. [Creutzberg, Carien] Leiden Univ, Med Ctr, Leiden, Netherlands. [Rattray, Carole] Univ West Indies, Mona Campus, Kingston, Jamaica. [Kesic, Vesna] Clin Ctr Serbia, Belgrade, Serbia. [Paraja, Rene] Inst Cancerol Amer, Antioquia, Colombia. [Eiken, Mary] Int Gynecol Canc Soc, Louisville, KY USA. [Belleson, Kristin] Soc Gynecol Oncol, Chicago, IL USA. [Barakat, Richard R.] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA. [Trimble, Edward L.] NCI, Bethesda, MD 20892 USA. [Quinn, Michael] Royal Womens Hosp, Melbourne, Vic, Australia. RP Chuang, LT (reprint author), Icahn Sch Med Mt Sinai, 1176 Fifth Ave,Box 1173, New York, NY 10029 USA. EM linus.chuang@mssm.edu OI Cibula, David/0000-0001-6387-9356 FU NCI NIH HHS [P30 CA008748] NR 6 TC 0 Z9 0 U1 2 U2 2 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1048-891X EI 1525-1438 J9 INT J GYNECOL CANCER JI Int. J. Gynecol. Cancer PD JUL PY 2016 VL 26 IS 6 BP 1186 EP 1188 DI 10.1097/IGC.0000000000000735 PG 3 WC Oncology; Obstetrics & Gynecology SC Oncology; Obstetrics & Gynecology GA DW9CV UT WOS:000383953500030 PM 27327155 ER PT J AU Singhal, A Simmons, M Lu, ZY AF Singhal, Ayush Simmons, Michael Lu, Zhiyong TI Text mining for precision medicine: automating disease-mutation relationship extraction from biomedical literature SO JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION LA English DT Article DE precision medicine; disease-mutation relationship; automated extraction; machine learning; text mining; breast cancer; prostate cancer ID SEQUENCE VARIANTS; SYSTEM; TOOL AB Objective Identifying disease-mutation relationships is a significant challenge in the advancement of precision medicine. The aim of this work is to design a tool that automates the extraction of disease-related mutations from biomedical text to advance database curation for the support of precision medicine. Materials and Methods We developed a machine-learning (ML) based method to automatically identify the mutations mentioned in the biomedical literature related to a particular disease. In order to predict a relationship between the mutation and the target disease, several features, such as statistical features, distance features, and sentiment features, were constructed. Our ML model was trained with a pre-labeled dataset consisting of manually curated information about mutation-disease associations. The model was subsequently used to extract disease-related mutations from larger biomedical literature corpora. Results The performance of the proposed approach was assessed using a benchmarking dataset. Results show that our proposed approach gains significant improvement over the previous state of the art and obtains F-measures of 0.880 and 0.845 for prostate and breast cancer mutations, respectively. Discussion To demonstrate its utility, we applied our approach to all abstracts in PubMed for 3 diseases (including a non-cancer disease). The mutations extracted were then manually validated against human-curated databases. The validation results show that the proposed approach is useful in a real-world setting to extract uncurated disease mutations from the biomedical literature. Conclusions The proposed approach improves the state of the art for mutation-disease extraction from text. It is scalable and generalizable to identify mutations for any disease at a PubMed scale. C1 [Singhal, Ayush; Simmons, Michael; Lu, Zhiyong] Natl Lib Med, NCBI, NIH, MSC3825,Bldg 38A,Rm 1003A,8600 Rockville Pike, Bethesda, MD 20894 USA. RP Lu, ZY (reprint author), Natl Lib Med, NCBI, NIH, MSC3825,Bldg 38A,Rm 1003A,8600 Rockville Pike, Bethesda, MD 20894 USA. EM zhiyong.lu@nih.gov FU NIH Intramural Research Program; National Library of Medicine; NIH Medical Research Scholars Program; NIH FX This research was supported by the NIH Intramural Research Program, National Library of Medicine, and the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the NIH and generous contributions to the Foundation for the NIH from the Doris Duke Charitable Foundation, the Howard Hughes Medical Institute, the American Association for Dental Research, the Colgate-Palmolive Company, and other private donors. No funds from the Doris Duke Charitable Foundation were used to support research that used animals. NR 26 TC 1 Z9 1 U1 8 U2 8 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1067-5027 EI 1527-974X J9 J AM MED INFORM ASSN JI J. Am. Med. Inf. Assoc. PD JUL PY 2016 VL 23 IS 4 BP 766 EP 772 DI 10.1093/jamia/ocw041 PG 7 WC Computer Science, Information Systems; Computer Science, Interdisciplinary Applications; Health Care Sciences & Services; Information Science & Library Science; Medical Informatics SC Computer Science; Health Care Sciences & Services; Information Science & Library Science; Medical Informatics GA DW6SS UT WOS:000383782100013 PM 27121612 ER PT J AU Roberts, K Demner-Fushman, D AF Roberts, Kirk Demner-Fushman, Dina TI Interactive use of online health resources: a comparison of consumer and professional questions SO JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION LA English DT Article DE consumer health informatics; online information seeking; consumer language; question answering ID INFORMATION-SEEKING; CLINICAL QUESTIONS; CARE; POINT AB Objective To understand how consumer questions on online resources differ from questions asked by professionals, and how such consumer questions differ across resources. Materials and Methods Ten online question corpora, 5 consumer and 5 professional, with a combined total of over 40 000 questions, were analyzed using a variety of natural language processing techniques. These techniques analyze questions at the lexical, syntactic, and semantic levels, exposing differences in both form and content. Results Consumer questions tend to be longer than professional questions, more closely resemble open-domain language, and focus far more on medical problems. Consumers ask more sub-questions, provide far more background information, and ask different types of questions than professionals. Furthermore, there is substantial variance of these factors between the different consumer corpora. Discussion The form of consumer questions is highly dependent upon the individual online resource, especially in the amount of background information provided. Professionals, on the other hand, provide very little background information and often ask much shorter questions. The content of consumer questions is also highly dependent upon the resource. While professional questions commonly discuss treatments and tests, consumer questions focus disproportionately on symptoms and diseases. Further, consumers place far more emphasis on certain types of health problems (eg, sexual health). Conclusion Websites for consumers to submit health questions are a popular online resource filling important gaps in consumer health information. By analyzing how consumers write questions on these resources, we can better understand these gaps and create solutions for improving information access. This article is part of the Special Focus on Person-Generated Health and Wellness Data, which published in the May 2016 issue, Volume 23, Issue 3. C1 [Roberts, Kirk; Demner-Fushman, Dina] US Natl Lib Med, Lister Hill Natl Ctr Biomed Commun, NIH, 8600 Rockville Pike,Bldg 38A-1003H, Bethesda, MD 20894 USA. RP Roberts, K (reprint author), US Natl Lib Med, Lister Hill Natl Ctr Biomed Commun, NIH, 8600 Rockville Pike,Bldg 38A-1003H, Bethesda, MD 20894 USA. EM kirk.roberts@nih.gov FU National Institutes of Health [1K99LM012104]; US National Library of Medicine, National Institutes of Health FX This work was supported by the National Institutes of Health (1K99LM012104), as well as the intramural research program at the US National Library of Medicine, National Institutes of Health. NR 34 TC 0 Z9 0 U1 2 U2 2 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1067-5027 EI 1527-974X J9 J AM MED INFORM ASSN JI J. Am. Med. Inf. Assoc. PD JUL PY 2016 VL 23 IS 4 BP 802 EP 811 DI 10.1093/jamia/ocw024 PG 10 WC Computer Science, Information Systems; Computer Science, Interdisciplinary Applications; Health Care Sciences & Services; Information Science & Library Science; Medical Informatics SC Computer Science; Health Care Sciences & Services; Information Science & Library Science; Medical Informatics GA DW6SS UT WOS:000383782100020 PM 27147494 ER PT J AU Cranfill, PJ Sell, BR Baird, MA Allen, JR Lavagnino, Z de Gruiter, HM Kremers, GJ Davidson, MW Ustione, A Piston, DW AF Cranfill, Paula J. Sell, Brittney R. Baird, Michelle A. Allen, John R. Lavagnino, Zeno de Gruiter, H. Martijn Kremers, Gert-Jan Davidson, Michael W. Ustione, Alessandro Piston, David W. TI Quantitative assessment of fluorescent proteins SO NATURE METHODS LA English DT Article ID MONOMERIC RED; IN-VIVO; GREEN; MICROSCOPY; BRIGHT; GFP; ORANGE; FRET; EVOLUTION; VARIANTS AB The advent of fluorescent proteins (FPs) for genetic labeling of molecules and cells has revolutionized fluorescence microscopy. Genetic manipulations have created a vast array of bright and stable FPs spanning blue to red spectral regions. Common to autofluorescent FPs is their tight beta-barrel structure, which provides the rigidity and chemical environment needed for effectual fluorescence. Despite the common structure, each FP has unique properties. Thus, there is no single 'best' FP for every circumstance, and each FP has advantages and disadvantages. To guide decisions about which FP is right for a given application, we have quantitatively characterized the brightness, photostability, pH stability and monomeric properties of more than 40 FPs to enable straightforward and direct comparison between them. We focus on popular and/or top-performing FPs in each spectral region. C1 [Cranfill, Paula J.; Sell, Brittney R.; Baird, Michelle A.; Allen, John R.; Davidson, Michael W.] Florida State Univ, Natl High Field Magnet Lab, Tallahassee, FL 32306 USA. [Cranfill, Paula J.; Lavagnino, Zeno; Ustione, Alessandro; Piston, David W.] Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA. [Lavagnino, Zeno; Ustione, Alessandro; Piston, David W.] Washington Univ, Dept Cell Biol & Physiol, St Louis, MO USA. [de Gruiter, H. Martijn; Kremers, Gert-Jan] Erasmus MC, Josephine Nefkens Inst, Erasmus Opt Imaging Ctr, Rotterdam, Netherlands. [Cranfill, Paula J.] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA. [Sell, Brittney R.] George Washington Univ, Dept Biochem & Mol Med, Washington, DC USA. [Baird, Michelle A.] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. [Allen, John R.] Nikon Instruments, Melville, NY USA. RP Piston, DW (reprint author), Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA.; Piston, DW (reprint author), Washington Univ, Dept Cell Biol & Physiol, St Louis, MO USA. EM piston@wustl.edu OI Lavagnino, Zeno/0000-0002-7247-8084 FU NIH [R01DK085064, R01DK098659, S100D010681, P20GM072048] FX This work was supported in part by NIH grants R01DK085064, R01DK098659, S10OD010681 and P20GM072048 to D.W.P. NR 65 TC 20 Z9 20 U1 18 U2 21 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1548-7091 EI 1548-7105 J9 NAT METHODS JI Nat. Methods PD JUL PY 2016 VL 13 IS 7 BP 557 EP + DI 10.1038/NMETH.3891 PG 7 WC Biochemical Research Methods SC Biochemistry & Molecular Biology GA DW6XK UT WOS:000383794500012 PM 27240257 ER PT J AU Essa, MM Akbar, M Khan, MAS AF Essa, Musthafa Mohamed Akbar, Mohammed Khan, Mohammed Abdul Sattar TI Beneficial effects of date palm fruits on neurodegenerative diseases SO NEURAL REGENERATION RESEARCH LA English DT Editorial Material ID DIETARY SUPPLEMENTATION; ANTIOXIDANT ACTIVITY; ALZHEIMERS-DISEASE; AMYLOID-BETA C1 [Essa, Musthafa Mohamed] Sultan Qaboos Univ, Coll Agr & Marine Sci, Dept Food Sci & Nutr, Muscat, Oman. [Essa, Musthafa Mohamed] Sultan Qaboos Univ, Ageing & Dementia Res Grp, Muscat, Oman. [Akbar, Mohammed] NIAAA, Sect Mol Pharmacol & Toxicol, Lab Membrane Biochem & Biophys, NIH, Bethesda, MD USA. [Khan, Mohammed Abdul Sattar] Massachusetts Gen Hosp, Shriners Hosp Children, Dept Anesthesia Crit Care & Pain Med, Boston, MA 02114 USA. [Khan, Mohammed Abdul Sattar] Harvard Med Sch, Boston, MA USA. RP Essa, MM (reprint author), Sultan Qaboos Univ, Coll Agr & Marine Sci, Dept Food Sci & Nutr, Muscat, Oman.; Essa, MM (reprint author), Sultan Qaboos Univ, Ageing & Dementia Res Grp, Muscat, Oman. EM drmdessa@gmail.com NR 15 TC 0 Z9 0 U1 2 U2 2 PU MEDKNOW PUBLICATIONS & MEDIA PVT LTD PI MUMBAI PA B-9, KANARA BUSINESS CENTRE, OFF LINK RD, GHAKTOPAR-E, MUMBAI, 400075, INDIA SN 1673-5374 EI 1876-7958 J9 NEURAL REGEN RES JI Neural Regen. Res. PD JUL PY 2016 VL 11 IS 7 BP 1071 EP 1072 DI 10.4103/1673-5374.187032 PG 2 WC Cell Biology; Neurosciences SC Cell Biology; Neurosciences & Neurology GA DW6YW UT WOS:000383798300015 PM 27630684 ER PT J AU Van Voorhis, WC Adams, JH Adelfio, R Ahyong, V Akabas, MH Alano, P Alday, A Resto, YA Alsibaee, A Alzualde, A Andrews, KT Avery, SV Avery, VM Ayong, L Baker, M Baker, S Ben Mamoun, C Bhatia, S Bickle, Q Bounaadja, L Bowling, T Bosch, J Boucher, LE Boyom, FF Brea, J Brennan, M Burton, A Caffrey, CR Camarda, G Carrasquilla, M Carter, D Cassera, MB Cheng, KCC Chindaudomsate, W Chubb, A Colon, BL Colon-Lopez, DD Corbett, Y Crowther, GJ Cowan, N D'Alessandro, S Le Dang, N Delves, M DeRisi, JL Du, AY Duffy, S El-Sayed, SA Ferdig, MT Robledo, JAF Fidock, DA Florent, I Fokou, PVT Galstian, A Gamo, FJ Gokool, S Gold, B Golub, T Goldgof, GM Guha, R Guiguemde, WA Gural, N Guy, RK Hansen, MAE Hanson, KK Hemphill, A van Huijsduijnen, RH Horii, T Horrocks, P Hughes, TB Huston, C Igarashi, I Ingram-Sieber, K Itoe, MA Jadhav, A Jensen, AN Jensen, LT Jiang, RHY Kaiser, A Keiser, J Ketas, T Kicka, S Kim, S Kirk, K Kumar, VP Kyle, DE Lafuente, MJ Landfear, S Lee, N Lee, S Lehane, AM Li, FW Little, D Liu, LQ Llinas, M Loza, MI Lubar, A Lucantoni, L Lucet, I Maes, L Mancama, D Mansour, NR March, S McGowan, S Vera, IM Meister, S Mercer, L Mestres, J Mfopa, AN Misra, RN Moon, S Moore, JP da Costa, FMR Muller, J Muriana, A Hewitt, SN Nare, B Nathan, C Narraidoo, N Nawaratna, S Ojo, KK Ortiz, D Panic, G Papadatos, G Parapini, S Patra, K Pham, N Prats, S Plouffe, DM Poulsen, SA Pradhan, A Quevedo, C Quinn, RJ Rice, CA Rizk, MA Ruecker, A St Onge, R Ferreira, RS Samra, J Robinett, NG Schlecht, U Schmitt, M Villela, FS Silvestrini, F Sinden, R Smith, DA Soldati, T Spitzmuller, A Stamm, SM Sullivan, DJ Sullivan, W Suresh, S Suzuki, BM Suzuki, Y Swamidass, SJ Taramelli, D Tchokouaha, LRY Theron, A Thomas, D Tonissen, KF Townson, S Tripathi, AK Trofimov, V Udenze, KO Ullah, I Vallieres, C Vigil, E Vinetz, JM Vinh, PV Vu, H Watanabe, NA Weatherby, K White, PM Wilks, AF Winzeler, EA Wojcik, E Wree, M Wu, W Yokoyama, N Zollo, PHA Abla, N Blasco, B Burrows, J Laleu, B Leroy, D Spangenberg, T Wells, T Willis, PA AF Van Voorhis, Wesley C. Adams, John H. Adelfio, Roberto Ahyong, Vida Akabas, Myles H. Alano, Pietro Alday, Aintzane Resto, Yesmalie Aleman Alsibaee, Aishah Alzualde, Ainhoa Andrews, Katherine T. Avery, Simon V. Avery, Vicky M. Ayong, Lawrence Baker, Mark Baker, Stephen Ben Mamoun, Choukri Bhatia, Sangeeta Bickle, Quentin Bounaadja, Lotfi Bowling, Tana Bosch, Juergen Boucher, Lauren E. Boyom, Fabrice F. Brea, Jose Brennan, Marian Burton, Audrey Caffrey, Conor R. Camarda, Grazia Carrasquilla, Manuela Carter, Dee Cassera, Maria Belen Cheng, Ken Chih-Chien Chindaudomsate, Worathad Chubb, Anthony Colon, Beatrice L. Colon-Lopez, Daisy D. Corbett, Yolanda Crowther, Gregory J. Cowan, Noemi D'Alessandro, Sarah Le Dang, Na Delves, Michael DeRisi, Joseph L. Du, Alan Y. Duffy, Sandra El-Sayed, Shimaa Abd El-Salam Ferdig, Michael T. Robledo, Jose A. Fernandez Fidock, David A. Florent, Isabelle Fokou, Patrick V. T. Galstian, Ani Javier Gamo, Francisco Gokool, Suzanne Gold, Ben Golub, Todd Goldgof, Gregory M. Guha, Rajarshi Guiguemde, W. Armand Gural, Nil Guy, R. Kiplin Hansen, Michael A. E. Hanson, Kirsten K. Hemphill, Andrew van Huijsduijnen, Rob Hooft Horii, Takaaki Horrocks, Paul Hughes, Tyler B. Huston, Christopher Igarashi, Ikuo Ingram-Sieber, Katrin Itoe, Maurice A. Jadhav, Ajit Jensen, Amornrat Naranuntarat Jensen, Laran T. Jiang, Rays H. Y. Kaiser, Annette Keiser, Jennifer Ketas, Thomas Kicka, Sebastien Kim, Sunyoung Kirk, Kiaran Kumar, Vidya P. Kyle, Dennis E. Jose Lafuente, Maria Landfear, Scott Lee, Nathan Lee, Sukjun Lehane, Adele M. Li, Fengwu Little, David Liu, Liqiong Llinas, Manuel Loza, Maria I. Lubar, Aristea Lucantoni, Leonardo Lucet, Isabelle Maes, Louis Mancama, Dalu Mansour, Nuha R. March, Sandra McGowan, Sheena Vera, Iset Medina Meister, Stephan Mercer, Luke Mestres, Jordi Mfopa, Alvine N. Misra, Raj N. Moon, Seunghyun Moore, John P. Rodrigues da Costa, Francielly Morais Mueller, Joachim Muriana, Arantza Hewitt, Stephen Nakazawa Nare, Bakela Nathan, Carl Narraidoo, Nathalie Nawaratna, Sujeevi Ojo, Kayode K. Ortiz, Diana Panic, Gordana Papadatos, George Parapini, Silvia Patra, Kailash Ngoc Pham Prats, Sarah Plouffe, David M. Poulsen, Sally-Ann Pradhan, Anupam Quevedo, Celia Quinn, Ronald J. Rice, Christopher A. Rizk, Mohamed Abdo Ruecker, Andrea St Onge, Robert Ferreira, Rafaela Salgado Samra, Jasmeet Robinett, Natalie G. Schlecht, Ulrich Schmitt, Marjorie Villela, Filipe Silva Silvestrini, Francesco Sinden, Robert Smith, Dennis A. Soldati, Thierry Spitzmueller, Andreas Stamm, Serge Maximilian Sullivan, David J. Sullivan, William Suresh, Sundari Suzuki, Brian M. Suzuki, Yo Swamidass, S. Joshua Taramelli, Donatella Tchokouaha, Lauve R. Y. Theron, Anjo Thomas, David Tonissen, Kathryn F. Townson, Simon Tripathi, Abhai K. Trofimov, Valentin Udenze, Kenneth O. Ullah, Imran Vallieres, Cindy Vigil, Edgar Vinetz, Joseph M. Phat Voong Vinh Hoan Vu Watanabe, Nao-aki Weatherby, Kate White, Pamela M. Wilks, Andrew F. Winzeler, Elizabeth A. Wojcik, Edward Wree, Melanie Wu, Wesley Yokoyama, Naoaki Zollo, Paul H. A. Abla, Nada Blasco, Benjamin Burrows, Jeremy Laleu, Benoit Leroy, Didier Spangenberg, Thomas Wells, Timothy Willis, Paul A. TI Open Source Drug Discovery with the Malaria Box Compound Collection for Neglected Diseases and Beyond SO PLOS PATHOGENS LA English DT Article ID STAGE PLASMODIUM-FALCIPARUM; IN-VITRO; INFECTED ERYTHROCYTES; THEILERIA PARASITES; IDENTIFICATION; INHIBITORS; TRANSMISSION; TARGET; BABESIA; BLOOD AB A major cause of the paucity of new starting points for drug discovery is the lack of interaction between academia and industry. Much of the global resource in biology is present in universities, whereas the focus of medicinal chemistry is still largely within industry. Open source drug discovery, with sharing of information, is clearly a first step towards overcoming this gap. But the interface could especially be bridged through a scale-up of open sharing of physical compounds, which would accelerate the finding of new starting points for drug discovery. The Medicines for Malaria Venture Malaria Box is a collection of over 400 compounds representing families of structures identified in phenotypic screens of pharmaceutical and academic libraries against the Plasmodium falciparum malaria parasite. The set has now been distributed to almost 200 research groups globally in the last two years, with the only stipulation that information from the screens is deposited in the public domain. This paper reports for the first time on 236 screens that have been carried out against the Malaria Box and compares these results with 55 assays that were previously published, in a format that allows a meta-analysis of the combined dataset. The combined biochemical and cellular assays presented here suggest mechanisms of action for 135 (34%) of the compounds active in killing multiple life-cycle stages of the malaria parasite, including asexual blood, liver, gametocyte, gametes and insect ookinete stages. In addition, many compounds demonstrated activity against other pathogens, showing hits in assays with 16 protozoa, 7 helminths, 9 bacterial and mycobacterial species, the dengue fever mosquito vector, and the NCI60 human cancer cell line panel of 60 human tumor cell lines. Toxicological, pharmacokinetic and metabolic properties were collected on all the compounds, assisting in the selection of the most promising candidates for murine proof-of-concept experiments and medicinal chemistry programs. The data for all of these assays are presented and analyzed to show how outstanding leads for many indications can be selected. These results reveal the immense potential for translating the dispersed expertise in biological assays involving human pathogens into drug discovery starting points, by providing open access to new families of molecules, and emphasize how a small additional investment made to help acquire and distribute compounds, and sharing the data, can catalyze drug discovery for dozens of different indications. Another lesson is that when multiple screens from different groups are run on the same library, results can be integrated quickly to select the most valuable starting points for subsequent medicinal chemistry efforts. C1 [Van Voorhis, Wesley C.; Crowther, Gregory J.; Hewitt, Stephen Nakazawa; Ojo, Kayode K.] Univ Washington, Dept Med, CERID, Seattle, WA 98195 USA. [Van Voorhis, Wesley C.; Crowther, Gregory J.; Hewitt, Stephen Nakazawa; Ojo, Kayode K.] Univ Washington, Dept Microbiol, CERID, Seattle, WA 98195 USA. [Van Voorhis, Wesley C.; Crowther, Gregory J.; Hewitt, Stephen Nakazawa; Ojo, Kayode K.] Univ Washington, Dept Global Hlth, CERID, Seattle, WA 98195 USA. [Adams, John H.; Jiang, Rays H. Y.; Kyle, Dennis E.; Pradhan, Anupam; Rice, Christopher A.; Udenze, Kenneth O.] Univ S Florida, Dept Global Hlth, Ctr Global Hlth & Infect Dis Res, Tampa, FL USA. [Adelfio, Roberto; Cowan, Noemi; Ingram-Sieber, Katrin; Keiser, Jennifer; Panic, Gordana] Swiss Trop & Publ Hlth Inst, Med Parasitol & Infect Biol, Basel, Switzerland. [Adelfio, Roberto; Cowan, Noemi; Ingram-Sieber, Katrin; Keiser, Jennifer; Panic, Gordana] Univ Basel, Basel, Switzerland. [Ahyong, Vida; DeRisi, Joseph L.; Wu, Wesley] Univ Calif San Francisco, Dept Biochem & Biophys, Howard Hughes Med Inst, San Francisco, CA 94143 USA. [Akabas, Myles H.] Albert Einstein Coll Med, Dept Physiol & Biophys, New York, NY USA. [Akabas, Myles H.] Albert Einstein Coll Med, Dept Neurosci, New York, NY USA. [Akabas, Myles H.] Albert Einstein Coll Med, Dept Med, New York, NY USA. [Alano, Pietro; Camarda, Grazia; Silvestrini, Francesco] Ist Super Sanita, Dipartimento Malattie Infett Parassitarie & Immun, Rome, Italy. [Alday, Aintzane; Alzualde, Ainhoa; Muriana, Arantza; Quevedo, Celia] BBD BioPhenix SL BIOBIDE, Donostia San Sebastian, Gipuzkoa, Spain. [Resto, Yesmalie Aleman; Robledo, Jose A. Fernandez] Bigelow Lab Ocean Sci, East Boothbay, ME USA. [Alsibaee, Aishah; Brennan, Marian; Chubb, Anthony] Royal Coll Surgeons Ireland, Mol & Cellular Therapeut, Dublin, Ireland. [Andrews, Katherine T.; Avery, Vicky M.; Duffy, Sandra; Lucantoni, Leonardo; Nawaratna, Sujeevi; Ngoc Pham; Poulsen, Sally-Ann; Quinn, Ronald J.; Tonissen, Kathryn F.; Hoan Vu] Griffith Univ, Eskitis Inst Drug Discovery, Nathan, Qld, Australia. [Andrews, Katherine T.; Nawaratna, Sujeevi] QIMR Berghofer Med Res Inst Herston, Brisbane, Qld, Australia. [Avery, Simon V.; Narraidoo, Nathalie; Vallieres, Cindy] Univ Nottingham, Sch Life Sci, Nottingham, Notts, England. [Ayong, Lawrence; Hansen, Michael A. E.; Lee, Sukjun; Moon, Seunghyun] Inst Pasteur Korea, Pangyo Techno Valley, Gyeonggi Provin, South Korea. [Baker, Mark] Novartis Consumer Hlth, Clin Pharmacol, Nyon, Switzerland. [Baker, Stephen; Phat Voong Vinh] Univ Oxford, Clin Res Unit, Wellcome Trust Major Overseas Programme, Hosp Trop Dis, Ho Chi Minh City, Vietnam. [Baker, Stephen] Univ Oxford, Nuffield Dept Clin Med, Ctr Trop Med, Oxford, England. [Baker, Stephen] London Sch Hyg & Trop Med, London, England. [Ben Mamoun, Choukri; Kumar, Vidya P.] Yale Univ, Internal Med, New Haven, CT USA. [Bhatia, Sangeeta; Gural, Nil; March, Sandra] MIT, Inst Med Engn & Sci, Hlth Sci & Technol, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Bickle, Quentin; Mansour, Nuha R.] London Sch Hyg & Trop Med, Dept Immunol & Infect, London, England. [Bounaadja, Lotfi; Florent, Isabelle] Sorbonne Univ, Museum Natl Hist, Paris, France. [Bowling, Tana; Burton, Audrey; Mercer, Luke; Nare, Bakela] SCYNEXIS Inc, Durham, NC USA. [Bosch, Juergen; Boucher, Lauren E.; Colon-Lopez, Daisy D.; Robinett, Natalie G.; Stamm, Serge Maximilian] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biochem & Mol Biol, Baltimore, MD USA. [Bosch, Juergen; Boucher, Lauren E.; Colon-Lopez, Daisy D.; Robinett, Natalie G.; Stamm, Serge Maximilian] Johns Hopkins Bloomberg Sch Publ Hlth, Johns Hopkins Malaria Res Inst, Baltimore, MD USA. [Boyom, Fabrice F.; Fokou, Patrick V. T.; Mfopa, Alvine N.; Tchokouaha, Lauve R. Y.; Zollo, Paul H. A.] Univ Yaounde, Dept Biochem, Yaounde, Cameroon. [Brea, Jose; Loza, Maria I.] Univ Santiago de Compostela, CIMUS Res Ctr, Santiago De Compostela, A Coruna, Spain. [Caffrey, Conor R.; Suzuki, Brian M.] Univ Calif San Francisco, Dept Pathol, Ctr Discovery & Innovat Parasit Dis, San Francisco, CA 94140 USA. [Carrasquilla, Manuela; Llinas, Manuel; Samra, Jasmeet] Penn State Univ, Dept Biochem & Mol Biol, University Pk, PA 16802 USA. [Carrasquilla, Manuela; Llinas, Manuel; Samra, Jasmeet] Penn State Univ, Huck Ctr Malaria Res, University Pk, PA 16802 USA. [Carter, Dee; Weatherby, Kate] Univ Sydney, Sch Life & Environm Sci, Darlington, NSW, Australia. [Cassera, Maria Belen] Virginia Polytech Inst & State Univ, Dept Biochem, Blacksburg, VA 24061 USA. [Cassera, Maria Belen] Virginia Polytech Inst & State Univ, Virginia Tech Ctr Drug Discovery, Blacksburg, VA 24061 USA. [Cheng, Ken Chih-Chien; Guha, Rajarshi; Jadhav, Ajit] NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA. [Chindaudomsate, Worathad; Jensen, Laran T.] Mahidol Univ, Dept Biochem, Bangkok, Thailand. [Colon, Beatrice L.] Univ S Florida, Morsani Coll Med, Dept Mol Med, Tampa, FL USA. [Corbett, Yolanda; D'Alessandro, Sarah; Parapini, Silvia] Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy. [Le Dang, Na; Hughes, Tyler B.; Taramelli, Donatella] Washington Univ, Dept Pathol & Immunol, St Louis, MO USA. [Delves, Michael; Ruecker, Andrea; Swamidass, S. Joshua] Imperial Coll London, Dept Life Sci, London, England. [Du, Alan Y.; Meister, Stephan; Vigil, Edgar; Winzeler, Elizabeth A.; Wree, Melanie] Univ Calif San Diego, Sch Med, Dept Pediat, Div Pharmacol & Drug Discovery, La Jolla, CA 92093 USA. [El-Sayed, Shimaa Abd El-Salam; Igarashi, Ikuo; Rizk, Mohamed Abdo; Yokoyama, Naoaki] Obihiro Univ Agr & Vet Med, Natl Res Ctr Protozoan Dis, Obihiro, Hokkaido, Japan. [El-Sayed, Shimaa Abd El-Salam] Mansoura Univ, Dept Biochem & Chem Nutr, Mansoura, Egypt. [Ferdig, Michael T.] Univ Notre Dame, Dept Biol Sci, Eck Inst Global Hlth, Notre Dame, IN 46556 USA. [Fidock, David A.] Columbia Univ, Dept Med, Med Ctr, Dept Microbiol & Immunol, New York, NY USA. [Fidock, David A.] Columbia Univ, Dept Med, Med Ctr, Div Infect Dis, New York, NY USA. [Galstian, Ani; Golub, Todd; Thomas, David] Broad Inst, Cambridge, MA USA. [Javier Gamo, Francisco; Jose Lafuente, Maria; Prats, Sarah] GlaxoSmithKline R&D, Biochem & Parasitol Dept, Malaria DPU, DDW, Madrid, Spain. [Gokool, Suzanne; Townson, Simon] Northwick Pk Inst Med Res, Trop Parasit Dis Unit, Harrow, Middx, England. [Gold, Ben; Ketas, Thomas; Little, David; Moore, John P.; Nathan, Carl] Weill Cornell Med Coll, Dept Microbiol & Immunol, New York, NY USA. [Goldgof, Gregory M.] Univ Calif San Diego, Med Scientist Training Program, San Diego, CA 92103 USA. [Guiguemde, W. Armand; Guy, R. Kiplin] St Jude Childrens Res Hosp, Dept Chem Biol & Therapeut, 332 N Lauderdale St, Memphis, TN 38105 USA. [Hanson, Kirsten K.] Univ Texas San Antonio, Dept Biol, San Antonio, TX USA. [Hanson, Kirsten K.] Univ Texas San Antonio, South Texas Ctr Emerging Infect Dis, San Antonio, TX USA. [Hanson, Kirsten K.; Itoe, Maurice A.; Vera, Iset Medina] Inst Med Mol, Lisbon, Portugal. [Hemphill, Andrew; Mueller, Joachim] Univ Bern, Inst Parasitol, Bern, Switzerland. [van Huijsduijnen, Rob Hooft; Lee, Nathan; Abla, Nada; Blasco, Benjamin; Burrows, Jeremy; Laleu, Benoit; Leroy, Didier; Spangenberg, Thomas; Wells, Timothy; Willis, Paul A.] Med Malaria Venture, Geneva, Switzerland. [Horii, Takaaki; Watanabe, Nao-aki] Eisai & Co Ltd, Hhc Data Creat Ctr, Global Hlth Res Sect, Tsukuba, Ibaraki, Japan. [Horrocks, Paul; Ullah, Imran] Keele Univ, Inst Sci & Technol Med, Keele, Staffs, England. [Huston, Christopher] Univ Vermont, Coll Med, Dept Med, Burlington, VT 05405 USA. [Jensen, Amornrat Naranuntarat] Mahidol Univ, Fac Sci, Dept Pathobiol, Bangkok, Thailand. [Kaiser, Annette] Inst Pharmacogenet, Med Res Ctr, Essen, Germany. [Kicka, Sebastien; Soldati, Thierry; Trofimov, Valentin] Univ Geneva, Dept Biochem, Geneva, Switzerland. [Kim, Sunyoung; Liu, Liqiong; Wojcik, Edward] LSU Hlth Sci Ctr, Dept Biochem & Mol Biol, New Orleans, LA USA. [Kirk, Kiaran; Lehane, Adele M.] Australian Natl Univ, Res Sch Biol, Canberra, ACT, Australia. [Landfear, Scott; Li, Fengwu; Ortiz, Diana] Oregon Hlth & Sci Univ, Dept Mol Microbiol & Immunol, Portland, OR 97201 USA. [Lubar, Aristea; Patra, Kailash; Vinetz, Joseph M.] Univ Calif San Diego, Dept Med, San Diego, CA 92103 USA. [Lucet, Isabelle] Monash Univ, Dept Biochem & Mol Biol, Clayton, Vic, Australia. [Maes, Louis] Univ Antwerp, Dept Biomed Sci, Antwerp, Belgium. [Mancama, Dalu; Theron, Anjo] CSIR, Biosci Unit, Pretoria, South Africa. [McGowan, Sheena] Monash Univ, Dept Microbiol, Clayton, Vic, Australia. [Mestres, Jordi; Spitzmueller, Andreas] IMIM Hosp del Mar, Inst Med Res, Chemotargets SL, Barcelona, Catalonia, Spain. [Mestres, Jordi; Spitzmueller, Andreas] IMIM Hosp del Mar, Inst Med Res, Res Grp Syst Pharmacol, Res Program Biomed Informat GRIB, Barcelona, Catalonia, Spain. [Mestres, Jordi; Spitzmueller, Andreas] Univ Pompeu Fabra, Barcelona, Catalonia, Spain. [Misra, Raj N.] NCI, Div Canc Therapeut & Diag, Drug Synth & Chem Branch, NIH, Bethesda, MD 20892 USA. [Rodrigues da Costa, Francielly Morais] Univ Fed Minas Gerais, Grad Program Bioinformat, Belo Horizonte, MG, Brazil. [Papadatos, George] EBI, EMBL, ChEMBL Grp, Hinxton, Cambs, England. [Plouffe, David M.] Novartis Res Fdn, Genom Inst, San Diego, CA USA. [Rizk, Mohamed Abdo] Mansoura Univ, Dept Internal Med & Infect Dis, Fac Vet Med, Mansoura, Egypt. [St Onge, Robert; Schlecht, Ulrich] Stanford Univ, Dept Biochem, Palo Alto, CA 94304 USA. [St Onge, Robert; Schlecht, Ulrich] Stanford Univ, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA. [Ferreira, Rafaela Salgado; Villela, Filipe Silva; Suresh, Sundari] Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil. [Robinett, Natalie G.; Schmitt, Marjorie] IRJBD, Lab Chim Mol, COB, CNRS,UMR 7509, Mulhouse, France. [Sinden, Robert] Univ Oxford, Jenner Inst, Oxford, England. [Smith, Dennis A.] Univ Cape Town, Dept Chem, Cape Town, South Africa. [Sullivan, David J.; Tripathi, Abhai K.] Johns Hopkins Sch Publ Hlth, H Feinstone Dept Mol Microbiol & Immunol, Baltimore, MD USA. [Sullivan, William; White, Pamela M.] Univ Calif Santa Cruz, Mol Cell & Dev Biol, Santa Cruz, CA 95064 USA. [Suzuki, Yo] J Craig Venter Inst, Dept Synthet Biol & Bioenergy, La Jolla, CA USA. [Tonissen, Kathryn F.] Griffith Univ, Sch Nat Sci, Nathan, Qld, Australia. [Wilks, Andrew F.] Walter & Eliza Hall Inst Med Res, Hudson Inst Med Res, Parkville, Vic, Australia. [Wilks, Andrew F.] SYNth Res, Parkville, Vic, Australia. [Carrasquilla, Manuela] Wellcome Trust Sanger Inst, Wellcome Genome Campus, Hinxton, Cambs, England. [Spangenberg, Thomas] Merck, Global Hlth, Coinsins, Switzerland. RP Van Voorhis, WC (reprint author), Univ Washington, Dept Med, CERID, Seattle, WA 98195 USA.; Van Voorhis, WC (reprint author), Univ Washington, Dept Microbiol, CERID, Seattle, WA 98195 USA.; Van Voorhis, WC (reprint author), Univ Washington, Dept Global Hlth, CERID, Seattle, WA 98195 USA. EM wesley@uw.edu RI Quinn, Ronald/A-7931-2008; Gasull, Martina/A-6630-2013; Kirk, Kiaran/C-8299-2009; Maes, Louis/A-2384-2017; Adams, John/G-1800-2015; Poulsen, Sally-Ann/C-4500-2008; duffy, sandra/B-8479-2017; Tonissen, Kathryn/E-9424-2010; Andrews, Katherine/F-9586-2011; Mestres, Jordi/B-3673-2009; OI McGowan, Sheena/0000-0001-6863-1106; Avery, Simon/0000-0002-2102-2255; Rice, Christopher/0000-0003-0672-9604; SOLDATI, Thierry/0000-0002-2056-7931; Quinn, Ronald/0000-0002-4022-2623; Kirk, Kiaran/0000-0002-5613-2622; Maes, Louis/0000-0002-2324-9509; Adams, John/0000-0003-3707-7979; Poulsen, Sally-Ann/0000-0003-4494-3687; duffy, sandra/0000-0002-2814-1193; Tonissen, Kathryn/0000-0002-1018-2798; Andrews, Katherine/0000-0002-1591-8979; Mestres, Jordi/0000-0002-5202-4501; Du, Alan/0000-0003-3223-9705; Crowther, Gregory/0000-0003-0530-9130; alano, pietro/0000-0003-0092-9840 FU UK DFID; Bill and Melinda Gates Foundation Grand Challenges Explorations; Medicines for Malaria Venture MMV Challenge Grant [MMV 12/0048, MMV 12/0076]; Australian Research Council [FT10100185, FT0991213, LP120200557]; Bill & Melinda Gates Foundation [OPP1040394, OPP1040399, OPP1086189, OPP1069393, OPP1119049, OPP1024029]; Bloomberg Family Foundation (JBr); JHMRI; US NIH [T32GM080189, R01GM104486, R01AI117017]; National Science Foundation Graduate Research Fellowship Program [DGE-1232825]; South African Medical Research Council [V6YBT51]; Council for Scientific and Industrial Research [V1YTB95]; French ANR program Mammamia [ANR-12-BS07-0020-01] FX Thanks to the UK DFID and the Bill and Melinda Gates Foundation Grand Challenges Explorations for providing funding for testing of the Malaria Box and funding the support of individual groups including: Medicines for Malaria Venture MMV Challenge Grant, Grant Numbers MMV 12/0048 and MMV 12/0076 (to JHA), the Australian Research Council (FT10100185 to SAP; FT0991213 to KTA and LP120200557 awarded to VMA), Bill & Melinda Gates Foundation Grant OPP1040394 to PA, OPP1040399 to DAF and VMA and OPP1086189 to KKH, OPP1069393 and OPP1119049 to ML, OPP1024029 to CN, the Bloomberg Family Foundation (JBr), JHMRI for a predoctoral fellowship, the US NIH for the CBI training grant T32GM080189 (to LEB), R01GM104486 (to PAW & WS), R01AI117017 (to JHA) the National Science Foundation Graduate Research Fellowship Program Grant No. DGE-1232825 (DDCL), the South African Medical Research Council Strategic Health Innovation Partnerships (grant V6YBT51 to DM) and the Council for Scientific and Industrial Research (grant V1YTB95, to DM), and the French ANR program Mammamia (ANR-12-BS07-0020-01). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 75 TC 7 Z9 7 U1 12 U2 15 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-7366 EI 1553-7374 J9 PLOS PATHOG JI PLoS Pathog. PD JUL PY 2016 VL 12 IS 7 AR e1005763 DI 10.1371/journal.ppat.1005763 PG 23 WC Microbiology; Parasitology; Virology SC Microbiology; Parasitology; Virology GA DW0XN UT WOS:000383366400043 PM 27467575 ER PT J AU Hsu, PF Cheng, HM Wu, CH Sung, SH Chuang, SY Lakatta, EG Yin, FCP Chou, P Chen, CH AF Hsu, Pai-Feng Cheng, Hao-Min Wu, Cheng-Hsueh Sung, Shih-Hsien Chuang, Shao-Yuan Lakatta, Edward G. Yin, Frank C. P. Chou, Pesus Chen, Chen-Huan TI High Short-Term Blood Pressure Variability Predicts Long-Term Cardiovascular Mortality in Untreated Hypertensives But Not in Normotensives SO AMERICAN JOURNAL OF HYPERTENSION LA English DT Article DE ambulatory blood pressure; blood pressure variability; cardiovascular mortality; hypertension ID LEFT-VENTRICULAR MASS; TARGET-ORGAN DAMAGE; E-LORO-ASSOCIAZIONI; PROGNOSTIC VALUE; GENERAL-POPULATION; HOME; MANAGEMENT; ARTERIAL; TAIWAN; DEATH AB BACKGROUND The prognostic value of the short-term blood pressure variability (BPV) from the 24-hour ambulatory blood pressure monitoring (ABPM) remains controversial. The present study aimed to investigate the longterm prognostic value of a high BPV in normotensive and hypertensive subjects from a community-based population. METHODS A cohort of 624 normotensive and 633 untreated hypertensive Taiwanese participants (overall 669 men, aged 30-79 years) with baseline ABPM and 20-year all-cause and cardiovascular mortality data was drawn from a community-based survey. BPV was assessed by the read-to-read average real variability of the 24-hour diastolic and systolic blood pressure (SBP) (ARVd and ARVs, respectively). RESULTS In Cox proportional hazards analysis, ARVd predicted cardiovascular mortality independently of office SBP (hazard ratios (HRs) and 95% confidence intervals (CIs) per 1 SD: 1.31 (1.10-1.55), respectively, bivariate analysis), 24-hour SBP (HR: 1.19, 95% CI: 1.00-1.43), and conventional risk factors (age, sex, smoking, total cholesterol, high-density lipoprotein cholesterol, and fasting blood glucose, HR: 1.40, 95% CI: 1.18-1.67). In subjects with hypertension, a high vs. low ARVd (median: 8.8 mm Hg) significantly predicted cardiovascular mortality (HR: 2.11, 95% CI: 1.23-3.62 and HR: 2.04, 95% CI: 1.19-3.51, respectively), when the conventional risk factors plus office SBP or 24-hour SBP were accounted for, respectively. Similar but less significant results were obtained with ARVs. A high ARVd or ARVs did not significantly predict cardiovascular mortality in the normotensive subjects. CONCLUSIONS A high short-term BPV is significantly predictive of long-term cardiovascular mortality in untreated hypertensive but not normotensive community-based subjects, independently of office or 24-hour SBP. C1 [Hsu, Pai-Feng; Cheng, Hao-Min; Wu, Cheng-Hsueh; Sung, Shih-Hsien; Chen, Chen-Huan] Taipei Vet Gen Hosp, Dept Med, Taipei, Taiwan. [Hsu, Pai-Feng; Cheng, Hao-Min; Sung, Shih-Hsien; Chou, Pesus; Chen, Chen-Huan] Natl Yang Ming Univ, Inst Publ Hlth, Taipei, Taiwan. [Hsu, Pai-Feng; Wu, Cheng-Hsueh; Sung, Shih-Hsien; Chen, Chen-Huan] Natl Yang Ming Univ, Fac Med, Taipei, Taiwan. [Cheng, Hao-Min; Chen, Chen-Huan] Taipei Vet Gen Hosp, Dept Med Educ, Taipei, Taiwan. [Chuang, Shao-Yuan] Natl Hlth Res Inst, Miaoli, Taiwan. [Lakatta, Edward G.] NIA, Cardiovasc Sci Lab, Intramural Res Program Baltimore, Baltimore, MD 21224 USA. [Yin, Frank C. P.] Washington Univ, Dept Biomed Engn, St Louis, MO 63105 USA. RP Chen, CH (reprint author), Taipei Vet Gen Hosp, Dept Med, Taipei, Taiwan.; Chen, CH (reprint author), Natl Yang Ming Univ, Inst Publ Hlth, Taipei, Taiwan.; Chen, CH (reprint author), Natl Yang Ming Univ, Fac Med, Taipei, Taiwan.; Chen, CH (reprint author), Taipei Vet Gen Hosp, Dept Med Educ, Taipei, Taiwan. EM chench@vghtpe.gov.tw FU National Science Council [NSC 99-2314-B-010-034-MY3, MOST 103-2314-B-010-050-MY2]; Taipei Veterans General Hospital [V104C-140]; Ministry of Health and Welfare [NO1-AG-1-2118, MOHW104-TDU-B-211-113-003]; Intramural Research Program of the National Institute on Aging, National Institutes of Health FX This work was supported in part by grants from the National Science Council (NSC 99-2314-B-010-034-MY3 and MOST 103-2314-B-010-050-MY2), an intramural grant from the Taipei Veterans General Hospital (grant V104C-140), Research and Development contract NO1-AG-1-2118, grants from the Ministry of Health and Welfare (MOHW104-TDU-B-211-113-003), and the Intramural Research Program of the National Institute on Aging, National Institutes of Health. NR 24 TC 2 Z9 2 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0895-7061 EI 1941-7225 J9 AM J HYPERTENS JI Am. J. Hypertens. PD JUL PY 2016 VL 29 IS 7 BP 806 EP 813 DI 10.1093/ajh/hpw002 PG 8 WC Peripheral Vascular Disease SC Cardiovascular System & Cardiology GA DV8HL UT WOS:000383178000004 PM 26837643 ER PT J AU Horbal, SR Seffens, W Davis, AR Silvestrov, N Gibbons, GH Quarells, RC Bidulescu, A AF Horbal, Steven R. Seffens, William Davis, Adam R. Silvestrov, Natalia Gibbons, Gary H. Quarells, Rakale C. Bidulescu, Aurelian TI Associations of Apelin, Visfatin, and Urinary 8-Isoprostane With Severe Hypertension in African Americans: The MH-GRID Study SO AMERICAN JOURNAL OF HYPERTENSION LA English DT Article DE adipokines; African Americans; apelin; blood pressure; hypertension; severe hypertension; urinary 8-isoprostane; visfatin ID ADIPOSE-TISSUE; ENDOTHELIAL DYSFUNCTION; RESISTANT HYPERTENSION; INFLAMMATION; OBESITY; ADIPOKINES AB BACKGROUND Apelin is an adipokine directly associated with adiposity, insulin resistance, and decreased blood pressure. Urinary 8-isoprostane is a marker of chronic oxidative endothelial stress. Visfatin, an adipokine that acts by binding and activating the insulin receptor, has been associated with hypertension. As severe hypertension (SH) is highly prevalent among African Americans (AA), we aimed to assess the association of these biomarkers with SH status. METHODS A sample of 250 AA participants (134 normotensive controls and 116 with SH (including 98 treatment controlled, SCH: severe controlled hypertension, and 18 treatment resistant, SRH: severe resistant hypertension)) from the Minority Health Genomics and Translational Research Bio-Repository Database (MH-GRID) in metro Atlanta had blood analyzed for apelin and visfatin and urine for 8-isoprostane. T-tests, sex-specific age-adjusted correlation coefficients, and multivariable logistic regression models were used to assess the association of biomarkers with hypertensive status. RESULTS Levels of apelin and 8-isoprostane were not statistically different between controls and SCH or SRH. Statistically significant differences were present in levels of visfatin between controls (1.03 +/- 0.84 pg/ml), SCH (1.34 +/- 1.14 pg/ml), and SRH (1.59 +/- 0.85 pg/ml). After multivariable adjustment, categorization in the middle 2 quartiles of urinary 8-isoprostane were associated with SH. In similar models, categorization into the highest quartile of visfatin was associated with SH (odds ratio = 2.80; 95% confidence interval: 1.02-7.02). A continuous association of visfatin with SH was present. CONCLUSION In our community sample of AA, there were increased odds of SH with increased levels of urinary 8-isoprostane and visfatin, but not with apelin. C1 [Horbal, Steven R.; Bidulescu, Aurelian] Indiana Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Bloomington, IN 47405 USA. [Seffens, William; Silvestrov, Natalia; Quarells, Rakale C.] Morehouse Sch Med, Dept Community Hlth & Prevent Med, Atlanta, GA 30310 USA. [Davis, Adam R.] NHGRI, Bethesda, MD 20892 USA. [Gibbons, Gary H.] NHLBI, NIH, Bethesda, MD 20892 USA. RP Bidulescu, A (reprint author), Indiana Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Bloomington, IN 47405 USA. EM abidules@indiana.edu FU NIH/National Institute on Minority Health and Health Disparities [1RC4MD005964] FX We would like to acknowledge the Minority Health-GRID Network (Rakale C. Quarells, Gary H. Gibbons, Donna K. Arnett, Robert L. Davis, Suzanne M. Leal, Deborah A. Nickerson, James Perkins, Charles N. Rotimi, Joel H. Saltz, Herman A. Taylor, and James G. Wilson). This work was supported, in part, by a grant from the NIH/National Institute on Minority Health and Health Disparities (grant #1RC4MD005964). NR 22 TC 0 Z9 0 U1 2 U2 2 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0895-7061 EI 1941-7225 J9 AM J HYPERTENS JI Am. J. Hypertens. PD JUL PY 2016 VL 29 IS 7 BP 814 EP 820 DI 10.1093/ajh/hpw007 PG 7 WC Peripheral Vascular Disease SC Cardiovascular System & Cardiology GA DV8HL UT WOS:000383178000005 PM 26869250 ER PT J AU Trasande, L Zoeller, RT Hass, U Kortenkamp, A Grandjean, P Myers, JP DiGangi, J Hunt, PM Rudel, R Sathyanarayana, S Bellanger, M Hauser, R Legler, J Skakkebaek, NE Heindel, JJ AF Trasande, L. Zoeller, R. T. Hass, U. Kortenkamp, A. Grandjean, P. Myers, J. P. DiGangi, J. Hunt, P. M. Rudel, R. Sathyanarayana, S. Bellanger, M. Hauser, R. Legler, J. Skakkebaek, N. E. Heindel, J. J. TI Burden of disease and costs of exposure to endocrine disrupting chemicals in the European Union: an updated analysis SO ANDROLOGY LA English DT Article DE disease burden; economic costs; endocrine disrupting chemicals ID REPRODUCTIVE DISORDERS; HEALTH; RECOMMENDATIONS; STRENGTH; QUALITY; GRADE AB A previous report documented that endocrine disrupting chemicals contribute substantially to certain forms of disease and disability. In the present analysis, our main objective was to update a range of health and economic costs that can be reasonably attributed to endocrine disrupting chemical exposures in the European Union, leveraging new burden and disease cost estimates of female reproductive conditions from accompanying report. Expert panels evaluated the epidemiologic evidence, using adapted criteria from the WHO Grading of Recommendations Assessment, Development and Evaluation Working Group, and evaluated laboratory and animal evidence of endocrine disruption using definitions recently promulgated by the Danish Environmental Protection Agency. The Delphi method was used to make decisions on the strength of the data. Expert panels consensus was achieved for probable (>20%) endocrine disrupting chemical causation for IQ loss and associated intellectual disability; autism; attention deficit hyperactivity disorder; endometriosis; fibroids; childhood obesity; adult obesity; adult diabetes; cryptorchidism; male infertility, and mortality associated with reduced testosterone. Accounting for probability of causation, and using the midpoint of each range for probability of causation, Monte Carlo simulations produced a median annual cost of (sic)163 billion (1.28% of EU Gross Domestic Product) across 1000 simulations. We conclude that endocrine disrupting chemical exposures in the EU are likely to contribute substantially to disease and dysfunction across the life course with costs in the hundreds of billions of Euros per year. These estimates represent only those endocrine disrupting chemicals with the highest probability of causation; a broader analysis would have produced greater estimates of burden of disease and costs. C1 [Trasande, L.] NYU, Sch Med, New York, NY USA. [Trasande, L.] NYU, Wagner Sch Publ Serv, New York, NY USA. [Trasande, L.] NYU, Dept Nutr Food & Publ Hlth, Steinhardt Sch Culture Educ & Human Dev, New York, NY USA. [Trasande, L.] NYU, Global Inst Publ Hlth, New York, NY USA. [Zoeller, R. T.] Univ Massachusetts, Amherst, MA 01003 USA. [Hass, U.] Tech Univ Denmark, Natl Food Inst, Soborg, Denmark. [Kortenkamp, A.] Brunel Univ, Inst Environm Hlth & Soc, Uxbridge, Middx, England. [Grandjean, P.; Hauser, R.] Harvard TH Chan Sch Publ Hlth, Dept Environm Hlth, Boston, MA USA. [Grandjean, P.] Univ Southern Denmark, Odense, Denmark. [Myers, J. P.] Environm Hlth Sci, Charlottesville, VA USA. [DiGangi, J.] IPEN, Gothenburg, Sweden. [Hunt, P. M.] Washington State Univ, Sch Mol Biosci, Pullman, WA 99164 USA. [Rudel, R.] Silent Spring Inst, Newton, MA USA. [Sathyanarayana, S.] Seattle Childrens Res Inst, Ctr Child Hlth Behav & Dev, Seattle, WA USA. [Bellanger, M.] EHESP Sch Publ Hlth, Paris, France. [Legler, J.] Vrije Univ Amsterdam, Inst Environm Studies, Dept Biol & Chem, Amsterdam, Netherlands. [Skakkebaek, N. E.] EDMaRC, Rigshosp, Dept Growth & Reprod, Copenhagen, Denmark. [Skakkebaek, N. E.] Univ Copenhagen, Copenhagen, Denmark. [Heindel, J. J.] NIEHS, Div Extramural Res & Training, POB 12233, Res Triangle Pk, NC 27709 USA. RP Trasande, L (reprint author), NYU, Sch Med, Dept Pediat, 403 East 34th St,Room 115, New York, NY 10016 USA. EM leonardo.trasande@nyumc.org OI Legler, Juliette/0000-0001-6321-1567 FU Endocrine Society; John Merck Fund; Broad Reach Foundation; Oak Foundation; NIEHS Division of Extramural Research and Training FX Research reported in this publication was supported by the Endocrine Society, the John Merck Fund, the Broad Reach Foundation, and the Oak Foundation. The funders and supporters had no role in the writing of the manuscript or the decision to submit it for publication. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIEHS, the National Institutes of Health or the US government. We thank Charles Persoz, Robert Barouki and Marion Le Gal of the French National Alliance for Life Sciences and Health, and Barbara Demeneix, Lindsey Marshall, Bilal Mughal, and Bolaji Seffou of the UMR 7221 Paris for providing technical and logistical support throughout the project. We also wish to thank Roberto Bertollini, Annette Pruss-Ustun, and David Tordrup of the World Health Organization for their consultation and support in developing the guidelines for evaluating epidemiologic evidence. The contribution of JJH was supported by the NIEHS Division of Extramural Research and Training. NR 19 TC 5 Z9 5 U1 9 U2 9 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-2919 EI 2047-2927 J9 ANDROLOGY-US JI Andrology PD JUL PY 2016 VL 4 IS 4 SI SI BP 565 EP 572 DI 10.1111/andr.12178 PG 8 WC Andrology SC Endocrinology & Metabolism GA DV9VT UT WOS:000383291000004 PM 27003928 ER PT J AU Louis, GMB Barr, DB Kannan, K Chen, Z Kim, S Sundaram, R AF Louis, G. M. Buck Barr, D. B. Kannan, K. Chen, Z. Kim, S. Sundaram, R. TI Paternal exposures to environmental chemicals and time-to-pregnancy: overview of results from the LIFE study SO ANDROLOGY LA English DT Article DE endocrine disrupters; epidemiology; fecundity; men; time to pregnancy ID ENDOCRINE-DISRUPTING CHEMICALS; URINARY BISPHENOL-A; TANDEM MASS-SPECTROMETRY; TESTICULAR CANCER; HUMAN-SERUM; SCIENTIFIC STATEMENT; REGIONAL DIFFERENCES; PROSPECTIVE COHORT; REGRESSION-MODELS; COUPLE FECUNDITY AB Published findings from the Longitudinal Investigation of Fertility and the Environment (LIFE) Study regarding the relation between environmental chemicals and couple fecundity, as measured by time-to-pregnancy (TTP), are reviewed with a particular focus on role of the male partner. The LIFE Study recruited 501 couples from 16 counties in two U.S. states upon discontinuing contraception for purposes of becoming pregnant. Upon enrollment, couples provided a blood and urine sample for the quantification of persistent and non-persistent environmental chemicals, respectively, and then completed daily journals until pregnant or up to one year of trying. Female partners used fertility monitors to aid the timing of intercourse relative to ovulation, and digital home pregnancy test kits on the day of expected menses. Chemical classes included: metals, persistent organic pollutants, environmental phenols, and phthalates that were quantified using inductively coupled plasma mass spectrometry or isotope dilution high-resolution or tandem mass spectrometry. Time-to-pregnancy (TTP) was defined as the number of prospectively observed menstrual cycles required for pregnancy. Fecundability odds ratios (FORs) and 95% confidence intervals (CIs) were estimated for each chemical and partner after adjusting for potential confounders and accounting for right censoring and time off contraception. FORs < 1 are suggestive of diminished fecundity or a longer TTP. Significant reductions (ranging from 17-31%) in couple fecundity were observed for male partners' concentration of lead (0.83; 0.70, 0.98), 2,2',4,4'-tetrahydroxybenzophenone (0.69; 0.49, 0.97), monobenzyl (0.80; 0.67, 0.97), and monomethyl (0.81; 0.70, 0.94) phthalates after adjusting for the female partners' concentrations. Seven PCB congeners quantified in men's serum were associated with a 17-29% reduction in couple fecundity. Our findings underscore the importance of a couple-based exposure design, inclusive of the male partner, when assessing couple-dependent outcomes such as TTP to avoid misinterpretation of results based only upon the female partner. C1 [Louis, G. M. Buck] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, NIH, 6100 Execut Blvd,Room 7B05, Rockville, MD 20852 USA. [Barr, D. B.] Emory Univ, Dept Environm Hlth, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA. [Kannan, K.] New York State Dept Hlth, Wadsworth Ctr, Albany, NY USA. [Chen, Z.; Kim, S.; Sundaram, R.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Biostat & Bioinformat Branch, Div Intramural Populat Hlth Res, NIH, Rockville, MD USA. RP Louis, GMB (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, NIH, 6100 Execut Blvd,Room 7B05, Rockville, MD 20852 USA. EM louisg@mail.nih.gov OI Sundaram, Rajeshwari/0000-0002-6918-5002; Buck Louis, Germaine/0000-0002-1774-4490 FU Eunice Kennedy Shriver National Institute of Child Health and Human Development [N01-HD-3-3355, N01-HD-3-3356, NOH-HD-3-3358, HHSN27500001, HHSN2750002]; NICHD FX This work was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (contracts #N01-HD-3-3355; N01-HD-3-3356; NOH-HD-3-3358; HHSN27500001; HHSN2750002). Members of the LIFE Study acknowledge the laboratory staff members at the Division of Laboratory Sciences, Centers for Disease Control and Prevention who performed the analytic chemistry work for the persistent chemicals under a Memo of Understanding with the NICHD, and the laboratory staff members at the Wadsworth Center for the analysis of non-persistent chemicals under contracts with the NICHD. This work was presented on April 27, 2015 at the 8th Copenhagen Workshop on Endocrine Disrupters. NR 68 TC 0 Z9 0 U1 7 U2 7 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2047-2919 EI 2047-2927 J9 ANDROLOGY-US JI Andrology PD JUL PY 2016 VL 4 IS 4 SI SI BP 639 EP 647 DI 10.1111/andr.12171 PG 9 WC Andrology SC Endocrinology & Metabolism GA DV9VT UT WOS:000383291000012 ER PT J AU Mills, JL Dimopoulos, A Bailey, RL AF Mills, James L. Dimopoulos, Aggeliki Bailey, Regan L. TI What Is Standing in the Way of Complete Prevention of Folate Preventable Neural Tube Defects? SO BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY LA English DT Editorial Material ID FOLIC-ACID FORTIFICATION; POPULATION; TRENDS; SUPPLEMENTATION; VITAMIN-B-12; INDIVIDUALS; EUROPE C1 [Mills, James L.; Dimopoulos, Aggeliki] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, Bethesda, MD 20892 USA. [Bailey, Regan L.] Purdue Univ, Dept Nutr Sci, W Lafayette, IN 47907 USA. RP Mills, JL (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, Bethesda, MD 20892 USA. FU Intramural NIH HHS [Z99 HD999999] NR 15 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1542-0752 EI 1542-0760 J9 BIRTH DEFECTS RES A JI Birth Defects Res. Part A-Clin. Mol. Teratol. PD JUL PY 2016 VL 106 IS 7 BP 517 EP 519 DI 10.1002/bdra.23518 PG 3 WC Developmental Biology; Toxicology SC Developmental Biology; Toxicology GA DV3RH UT WOS:000382840300002 PM 27418028 ER PT J AU Kannan, L Ramos, M Re, A El-Hachem, N Safikhani, Z Gendoo, DMA Davis, S Gomez-Cabrero, D Castelo, R Hansen, KD Carey, VJ Morgan, M Culhane, AC Haibe-Kains, B Waldron, L AF Kannan, Lavanya Ramos, Marcel Re, Angela El-Hachem, Nehme Safikhani, Zhaleh Gendoo, Deena M. A. Davis, Sean Gomez-Cabrero, David Castelo, Robert Hansen, Kasper D. Carey, Vincent J. Morgan, Martin Culhane, Aedin C. Haibe-Kains, Benjamin Waldron, Levi TI Public data and open source tools for multi-assay genomic investigation of disease SO BRIEFINGS IN BIOINFORMATICS LA English DT Article DE multiple assays (multi-assays); public data; bioconductor; integrative genomics; cancer; pharmacogenomics; omics ID BRITISH BIRTH COHORT; CANONICAL CORRELATION-ANALYSIS; GENE-EXPRESSION SIGNATURES; CANCER-CELL LINES; DRUG-SENSITIVITY; WIDE ASSOCIATION; SMALL MOLECULES; COPY NUMBER; TUMOR TYPES; DATA SETS AB Molecular interrogation of a biological sample through DNA sequencing, RNA and microRNA profiling, proteomics and other assays, has the potential to provide a systems level approach to predicting treatment response and disease progression, and to developing precision therapies. Large publicly funded projects have generated extensive and freely available multi-assay data resources; however, bioinformatic and statistical methods for the analysis of such experiments are still nascent. We review multi-assay genomic data resources in the areas of clinical oncology, pharmacogenomics and other perturbation experiments, population genomics and regulatory genomics and other areas, and tools for data acquisition. Finally, we review bioinformatic tools that are explicitly geared toward integrative genomic data visualization and analysis. This review provides starting points for accessing publicly available data and tools to support development of needed integrative methods. C1 [Kannan, Lavanya; Ramos, Marcel] CUNY Hunter Coll, Sch Publ Hlth, New York, NY 10021 USA. [Re, Angela] Univ Trento, Ctr Integrat Biol, Trento, Italy. [El-Hachem, Nehme] Univ Montreal, Montreal, PQ H3C 3J7, Canada. [Safikhani, Zhaleh; Gendoo, Deena M. A.; Haibe-Kains, Benjamin] Princess Margaret Canc Ctr, Toronto, ON, Canada. [Davis, Sean] NCI, NIH, Bethesda, MD 20892 USA. [Gomez-Cabrero, David] Karolinska Inst, Unit Computat Med, S-10401 Stockholm, Sweden. [Castelo, Robert] Univ Pompeu Fabra, Bioinformat & Biostat, Barcelona, Spain. [Hansen, Kasper D.] Johns Hopkins Univ, Biostat, Baltimore, MD 21218 USA. [Carey, Vincent J.] Harvard Med Sch, Med Biostat, Boston, MA USA. [Morgan, Martin] Roswell Pk Canc Inst, Biostat & Bioinformat, Buffalo, NY 14263 USA. [Culhane, Aedin C.] Dana Farber Canc Inst, Boston, MA 02115 USA. [Waldron, Levi] CUNY Hunter Coll, Sch Publ Hlth, Biostat, New York, NY 10021 USA. RP Waldron, L (reprint author), 2180 3rd Ave, New York, NY 10040 USA. EM levi.waldron@hunter.cuny.edu RI Castelo, Robert/A-4679-2010; Gasull, Martina/A-6630-2013; OI Castelo, Robert/0000-0003-2229-4508; Haibe-Kains, Benjamin/0000-0002-7684-0079; Waldron, Levi/0000-0003-2725-0694 FU National Cancer Institute [U24CA180996, 1U19 AI111224-01]; National Institute on Minority Health and Health Disparities [MD007599]; NCI Intramural Research Program of the National Institutes of Health; Spanish MINECO [TIN2011-22826]; Gattuso Slaight Personalized Cancer Medicine Fund at Princess Margaret Cancer Centre; Cancer Research Society (Canada); Brain Canada-CIBC Brain Cancer Research Training Award; University of Trento; Breast Cancer Research Program [W81XWH-15-1-0013] FX The authors' work was funded by the National Cancer Institute [U24CA180996 to MM], the National Institute on Minority Health and Health Disparities [MD007599 to LW] and the NCI Intramural Research Program [SD] of the National Institutes of Health. Spanish MINECO grant TIN2011-22826 to RC. BHK was supported by the Gattuso Slaight Personalized Cancer Medicine Fund at Princess Margaret Cancer Centre. ZS was supported by the Cancer Research Society (Canada). DMAG was supported by the Brain Canada-CIBC Brain Cancer Research Training Award AR was supported by the Biotechnology start-up project of the University of Trento. AC was supported by National Cancer Institute 1U19 AI111224-01 and the Assistant Secretary of Defense Health Program, through the Breast Cancer Research Program, Award No. W81XWH-15-1-0013. NR 96 TC 2 Z9 2 U1 9 U2 9 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1467-5463 EI 1477-4054 J9 BRIEF BIOINFORM JI Brief. Bioinform. PD JUL PY 2016 VL 17 IS 4 SI SI BP 603 EP 615 DI 10.1093/bib/bbv080 PG 13 WC Biochemical Research Methods; Mathematical & Computational Biology SC Biochemistry & Molecular Biology; Mathematical & Computational Biology GA DV7XI UT WOS:000383151200005 PM 26463000 ER PT J AU Hart, SN Maxwell, KN Thomas, T Ravichandran, V Wubberhorst, B Klein, RJ Schrader, K Szabo, C Weitzel, JN Neuhausen, SL Nathanson, K Offit, K Couch, FJ Vijai, J AF Hart, Steven N. Maxwell, Kara N. Thomas, Tinu Ravichandran, Vignesh Wubberhorst, Bradley Klein, Robert J. Schrader, Kasmintan Szabo, Csilla Weitzel, Jeffrey N. Neuhausen, Susan L. Nathanson, Katherine Offit, Kenneth Couch, Fergus J. Vijai, Joseph TI Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes SO BRIEFINGS IN BIOINFORMATICS LA English DT Article DE genomics; exome ID GENOME-WIDE ASSOCIATION; BREAST-CANCER; MISSING HERITABILITY; READ ALIGNMENT; VARIANTS; ANNOTATION; ALGORITHMS; MUTATIONS; SINGLE; TOOLS AB The purpose of this article is to inform readers about technical challenges that we encountered when assembling exome sequencing data from the 'Simplifying Complex Exomes' (SIMPLEXO) consortium-whose mandate is the discovery of novel genes predisposing to breast and ovarian cancers. Our motivation is to share these obstacles-and our solutions to them-as a means of communicating important technical details that should be discussed early in projects involving massively parallel sequencing. C1 [Hart, Steven N.] Mayo Clin, Biomed Informat, Rochester, MN USA. [Maxwell, Kara N.] Univ Penn, Perelman Sch Med, Div Hematol Oncol, Philadelphia, PA 19104 USA. [Thomas, Tinu; Ravichandran, Vignesh] Mem Sloan Kettering Canc Ctr, Clin Genet Res Lab, 1275 York Ave, New York, NY 10021 USA. [Klein, Robert J.] Icahn Sch Med Mt Sinai, New York, NY 10029 USA. [Schrader, Kasmintan] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada. [Schrader, Kasmintan] BC Canc Agcy, Dept Med Genet, Vancouver, BC, Canada. [Schrader, Kasmintan] BC Canc Agcy, Hereditary Canc Program, Vancouver, BC, Canada. [Szabo, Csilla] NHGRI, NIH, Bethesda, MD 20892 USA. [Weitzel, Jeffrey N.] City Hope Comprehens Canc Ctr, Div Clin Canc Genet, Duarte, CA USA. [Weitzel, Jeffrey N.] City Hope Comprehens Canc Ctr, Canc Screening & Prevent Program, Duarte, CA USA. [Weitzel, Jeffrey N.] City Hope Natl Med Ctr, Oncol & Populat Sci, Duarte, CA USA. [Nathanson, Katherine] Abramson Canc Ctr, Div Translat Med, Philadelphia, PA USA. [Nathanson, Katherine] Abramson Canc Ctr, Philadelphia, PA USA. [Offit, Kenneth] Mem Hosp, Clin Genet Serv, Belleville, IL USA. [Offit, Kenneth] Mem Sloan Kettering Canc Ctr, Sloan Kettering Inst, Canc Biol & Genet Program, 1275 York Ave, New York, NY 10021 USA. [Couch, Fergus J.] Mayo Clin, Dept Lab Med & Pathol, Med Res, Rochester, MN USA. [Couch, Fergus J.] Mayo Clin, Dept Lab Med & Pathol, Div Expt Pathol, Rochester, MN USA. [Vijai, Joseph] Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA. [Vijai, Joseph] Mem Sloan Kettering Canc Ctr, Clin Genet Res Lab, 1275 York Ave, New York, NY 10021 USA. RP Hart, SN (reprint author), Mayo Clin, Mayo Coll Med, Dept Hlth Sci Res, Bioinformat,CGSL, 200 First St SW, Rochester, MN 55905 USA.; Hart, SN (reprint author), Mayo Clin, Mayo Coll Med, Dept Hlth Sci Res, Biomed Informat,Div Biomed Stat & Informat, 200 First St SW, Rochester, MN 55905 USA.; Vijai, J (reprint author), Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10065 USA. EM Hart.steven@mayo.edu; josephv@mskcc.org FU National Institutes of Health [R01CA176785]; Breast Cancer Research Foundation [R21-CA139396]; Department of Defense [W81XWH-13-1-0338]; Niehaus Clinical Genetics Initiative; Miele family initiative; National Cancer Institute [RC4CA153828]; Office of the Director, National Institutes of Health; MSKCC Core grant [NIH P30CA008748] FX This work was supported by the National Institutes of Health R01CA176785 and the Breast Cancer Research Foundation [F.J.C., K.N. and K.O], R21-CA139396 [J.V]. K.N.M. was supported by the Department of Defense (W81XWH-13-1-0338); views and opinions of, and endorsements by, the authors do not reflect those of the US Army or the Department of Defense. Other funding was provided by The Niehaus Clinical Genetics Initiative and The Miele family initiative [K.O.]. City of Hope Clinical Cancer Genetics Community Research Network and the Hereditary Cancer Research Registry, supported in part by Award Number RC4CA153828 (PI: J. Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The work was also supported by the MSKCC Core grant NIH P30CA008748. NR 29 TC 0 Z9 0 U1 4 U2 4 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1467-5463 EI 1477-4054 J9 BRIEF BIOINFORM JI Brief. Bioinform. PD JUL PY 2016 VL 17 IS 4 SI SI BP 672 EP 677 DI 10.1093/bib/bbv075 PG 6 WC Biochemical Research Methods; Mathematical & Computational Biology SC Biochemistry & Molecular Biology; Mathematical & Computational Biology GA DV7XI UT WOS:000383151200010 PM 26358132 ER PT J AU Wolf, C Mohr, H Diekhof, EK Vieker, H Goya-Maldonado, R Trost, S Kramer, B Keil, M Binder, EB Gruber, O AF Wolf, Claudia Mohr, Holger Diekhof, Esther K. Vieker, Henning Goya-Maldonado, Roberto Trost, Sarah Kraemer, Bernd Keil, Maria Binder, Elisabeth B. Gruber, Oliver TI CREB1 Genotype Modulates Adaptive Reward-Based Decisions in Humans SO CEREBRAL CORTEX LA English DT Article DE CREB1; decision-making; fMRI; genetics; reward ID ELEMENT-BINDING PROTEIN; RESIST IMPULSIVE DESIRES; NUCLEUS-ACCUMBENS; FEAR MEMORY; BEHAVIORAL-RESPONSES; PREFRONTAL CORTEX; NEURAL MECHANISMS; EMOTIONAL STIMULI; MAJOR DEPRESSION; BIPOLAR DISORDER AB Cyclic AMP response element-binding protein (CREB) contributes to adaptation of mesocorticolimbic networks by modulating activity-regulated transcription and plasticity in neurons. Activity or expression changes of CREB in the nucleus accumbens (NAc) and orbital frontal cortex (OFC) interact with behavioral changes during reward-motivated learning. However, these findings from animal models have not been evaluated in humans. We tested whether CREB1 genotypes affect reward-motivated decisions and related brain activation, using BOLD fMRI in 224 young and healthy participants. More specifically, participants needed to adapt their decision to either pursue or resist immediate rewards to optimize the reward outcome. We found significant CREB1 genotype effects on choices to pursue increases of the reward outcome and on BOLD signal in the NAc, OFC, insula cortex, cingulate gyrus, hippocampus, amygdala, and precuneus during these decisions in comparison with those decisions avoiding total reward loss. Our results suggest that CREB1 genotype effects in these regions could contribute to individual differences in reward-and associative memory-based decision-making. C1 [Wolf, Claudia; Mohr, Holger; Diekhof, Esther K.; Vieker, Henning; Goya-Maldonado, Roberto; Trost, Sarah; Kraemer, Bernd; Keil, Maria; Gruber, Oliver] Univ Gottingen, Dept Psychiat & Psychotherapy, Ctr Translat Res Syst Neurosci & Psychiat, D-37075 Gottingen, Germany. [Wolf, Claudia] NIA, Lab Behav Neurosci, Baltimore, MD 21224 USA. [Mohr, Holger] Tech Univ Dresden, Dept Gen Psychol, D-01069 Dresden, Germany. [Diekhof, Esther K.] Univ Hamburg, Grindel Bioctr, D-20146 Hamburg, Germany. [Diekhof, Esther K.] Univ Hamburg, Inst Humanbiol, Zool Museum, D-20146 Hamburg, Germany. [Vieker, Henning] Univ Med Ctr Hamburg Eppendorf, Dept Psychiat & Psychotherapy, D-20246 Hamburg, Germany. [Binder, Elisabeth B.] Max Planck Inst Psychiat, D-80804 Munich, Germany. RP Wolf, C (reprint author), Univ Gottingen, Dept Psychiat & Psychotherapy, Ctr Translat Res Syst Neurosci & Psychiat, D-37075 Gottingen, Germany.; Wolf, C (reprint author), NIA, Lab Behav Neurosci, Baltimore, MD 21224 USA. EM claudia.wolf@nih.gov FU NIH Intramural Research Program FX C.W. was partly supported by the NIH Intramural Research Program. NR 51 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD JUL PY 2016 VL 26 IS 7 BP 2970 EP 2981 DI 10.1093/cercor/bhv104 PG 12 WC Neurosciences SC Neurosciences & Neurology GA DV8QC UT WOS:000383200500003 PM 26045569 ER PT J AU Lee, NR Adeyemi, EI Lin, A Clasen, LS Lalonde, FM Condon, E Driver, DI Shaw, P Gogtay, N Raznahan, A Giedd, JN AF Lee, Nancy Raitano Adeyemi, Elizabeth I. Lin, Amy Clasen, Liv S. Lalonde, Franois M. Condon, Ellen Driver, David I. Shaw, Philip Gogtay, Nitin Raznahan, Armin Giedd, Jay N. TI Dissociations in Cortical Morphometry in Youth with Down Syndrome: Evidence for Reduced Surface Area but Increased Thickness SO CEREBRAL CORTEX LA English DT Article DE Alzheimer's disease; cerebral cortex; intellectual disability; magnetic resonance imaging; Trisomy 21 ID AUTOMATED 3-D EXTRACTION; HUMAN CEREBRAL-CORTEX; HIGH-RESOLUTION MRI; FRAGILE-X-SYNDROME; SHORT-TERM-MEMORY; DEVELOPMENTAL TRAJECTORIES; AMYLOID DEPOSITION; ALZHEIMERS-DISEASE; BRAIN; CHILDREN AB Detailed descriptions of cortical anatomy in youth with Down syndrome (DS), the most common genetic cause of intellectual disability (ID), are scant. Thus, the current study examined deviations in cortical thickness (CT) and surface area (SA), at high spatial resolution, in youth with DS, to identify focal differences relative to typically developing (TD) youth. Participants included 31 youth with DS and 45 age-and sex-matched TD controls (mean age similar to 16 years; range = 5-24 years). All participants completed T-1-weighted ASSET-calibrated magnetization prepared rapid gradient echo scans on a 3-T magnetic resonance imaging scanner. Replicating prior investigations, cortical volume was reduced in DS compared with controls. However, a novel dissociation for SA and CT was found-namely, SA was reduced (predominantly in frontal and temporal regions) while CT was increased (notably in several regions thought to belong to the default mode network; DMN). These findings suggest that reductions in SA rather than CT are driving the cortical volume reductions reported in prior investigations of DS. Moreover, given the link between DMN functionality and Alzheimer's symptomatology in chromosomally typical populations, future DS studies may benefit from focusing on the cortex in DMN regions, as such investigations may provide clues to the precocious onset of Alzheimer's disease in this at-risk group. C1 [Lee, Nancy Raitano; Adeyemi, Elizabeth I.; Lin, Amy; Clasen, Liv S.; Lalonde, Franois M.; Driver, David I.; Gogtay, Nitin; Raznahan, Armin; Giedd, Jay N.] NIMH, Child Psychiat Branch, NIH, Bethesda, MD 20892 USA. [Condon, Ellen] NIMH, Funct MRI Core Facil, NIH, Bethesda, MD 20892 USA. [Lee, Nancy Raitano] Drexel Univ, Dept Psychol, 3141 Chestnut St,Suite 119, Philadelphia, PA 19103 USA. [Shaw, Philip] Natl Human Genome Res Inst, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA. [Giedd, Jay N.] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. RP Lee, NR (reprint author), Drexel Univ, Dept Psychol, 3141 Chestnut St,Suite 119, Philadelphia, PA 19103 USA. EM nrl39@drexel.edu RI Lee, Nancy/M-7492-2016 OI Lee, Nancy/0000-0002-6663-0713 FU Intramural Research Program of the National Institutes of Health, National Institute of Mental Health [1 ZIA MH002794-13, 89-M-0006] FX This work was supported by the Intramural Research Program of the National Institutes of Health, National Institute of Mental Health (1 ZIA MH002794-13; Protocol ID 89-M-0006). NR 65 TC 0 Z9 0 U1 1 U2 2 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD JUL PY 2016 VL 26 IS 7 BP 2982 EP 2990 DI 10.1093/cercor/bhv107 PG 9 WC Neurosciences SC Neurosciences & Neurology GA DV8QC UT WOS:000383200500004 PM 26088974 ER PT J AU Tomasi, D Shokri-Kojori, E Volkow, ND AF Tomasi, Dardo Shokri-Kojori, Ehsan Volkow, Nora D. TI High-Resolution Functional Connectivity Density: Hub Locations, Sensitivity, Specificity, Reproducibility, and Reliability SO CEREBRAL CORTEX LA English DT Article DE aging; FCDM; global signal regression; motion; multiband; physiologic noise; resting state ID GLOBAL SIGNAL REGRESSION; HUMAN CONNECTOME PROJECT; TEST-RETEST RELIABILITY; INDEPENDENT COMPONENT ANALYSIS; ANTI-CORRELATED NETWORKS; RESTING STATE NETWORKS; HUMAN BRAIN; SMALL-WORLD; ALZHEIMERS-DISEASE; NEURONAL-ACTIVITY AB Brain regions with high connectivity have high metabolic cost and their disruption is associated with neuropsychiatric disorders. Prior neuroimaging studies have identified at the group-level local functional connectivity density (lFCD) hubs, network nodes with high degree of connectivity with neighboring regions, in occipito-parietal cortices. However, the individual patterns and the precision for the location of the hubs were limited by the restricted spatiotemporal resolution of the magnetic resonance imaging (MRI) measures collected at rest. In this work, we show that MRI datasets with higher spatiotemporal resolution (2-mm isotropic; 0.72 s), collected under the Human Connectome Project (HCP), provide a significantly higher precision for hub localization and for the first time reveal lFCD patterns with gray matter (GM) specificity >96% and sensitivity >75%. High temporal resolution allowed effective 0.01-0.08 Hz band-pass filtering, significantly reducing spurious lFCD effects in white matter. These high spatiotemporal resolution lFCD measures had high reliability [intraclass correlation, ICC(3,1) > 0.6] but lower reproducibility (>67%) than the low spatiotemporal resolution equivalents. GM sensitivity and specificity benchmarks showed the robustness of lFCD to changes in model parameter and preprocessing steps. Mapping individual's brain hubs with high sensitivity, specificity, and reproducibility supports the use of lFCD as a biomarker for clinical applications in neuropsychiatric disorders. C1 [Tomasi, Dardo; Shokri-Kojori, Ehsan; Volkow, Nora D.] NIAAA, Bethesda, MD USA. [Volkow, Nora D.] NIDA, Bethesda, MD 20892 USA. RP Tomasi, D (reprint author), 10 Ctr Dr,Rm B2L124, Bethesda, MD 20892 USA. EM dardo.tomasi@nih.gov FU Human Connectome Project, WU-Minn Consortium - 16 NIH Institutes and Centers [1U54MH091657]; McDonnell Center for Systems Neuroscience at Washington University; National Institutes of Alcohol Abuse and Alcoholism [2RO1AA09481] FX Data were provided by the Human Connectome Project, WU-Minn Consortium (Principal Investigators: David Van Essen and Kamil Ugurbil; 1U54MH091657) funded by the 16 NIH Institutes and Centers that support the NIH Blueprint for Neuroscience Research and by the McDonnell Center for Systems Neuroscience at Washington University. This work was accomplished with support from the National Institutes of Alcohol Abuse and Alcoholism (2RO1AA09481). NR 73 TC 3 Z9 3 U1 4 U2 4 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD JUL PY 2016 VL 26 IS 7 BP 3249 EP 3259 DI 10.1093/cercor/bhv171 PG 11 WC Neurosciences SC Neurosciences & Neurology GA DV8QC UT WOS:000383200500025 PM 26223259 ER PT J AU Damiano, D Forssberg, H AF Damiano, Diane Forssberg, Hans TI We are the world: meeting the global challenge of childhood disability SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Editorial Material C1 [Damiano, Diane] NIH, Dept Rehabil Med, Bethesda, MD 20892 USA. [Forssberg, Hans] Karolinska Inst, Astrid Lindgren Childrens Hosp, Neuropaediat, Stockholm, Sweden. RP Damiano, D (reprint author), NIH, Dept Rehabil Med, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0012-1622 EI 1469-8749 J9 DEV MED CHILD NEUROL JI Dev. Med. Child Neurol. PD JUL PY 2016 VL 58 IS 7 BP 649 EP 649 DI 10.1111/dmcn.13154 PG 1 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA DV3VZ UT WOS:000382854000002 PM 27307194 ER PT J AU Ghassabian, A Sundaram, R Wylie, A Bell, E Bello, SC Yeung, E AF Ghassabian, Akhgar Sundaram, Rajeshwari Wylie, Amanda Bell, Erin Bello, Scott C. Yeung, Edwina TI Maternal medical conditions during pregnancy and gross motor development up to age 24 months in the Upstate KIDS study SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID GESTATIONAL DIABETES-MELLITUS; DNA METHYLATION; CHILDREN BORN; BIRTH COHORT; INFANTS BORN; SCHOOL-AGE; MOTHERS; POPULATION; MILESTONES; OBESITY AB AIM We examined whether children of mothers with a medical condition diagnosed before or during pregnancy took longer to achieve gross motor milestones up to age 24 months. METHOD We obtained information on medical conditions using self-reports, birth certificates, and hospital records in 4909 mothers participating in Upstate KIDS, a population-based birth cohort. Mothers reported on their children's motor milestone achievement at 4, 8, 12, 18, and 24 months of age. RESULTS After adjustment for covariates (including pre-pregnancy body mass index), children of mothers with gestational diabetes took longer to achieve sitting without support (hazard ratio [HR]=0.84, 95% confidence interval [CI] 0.75-0.93), walking with assistance (HR=0.88, 95% CI 0.77-0.98), and walking alone (HR=0.88, 95% CI 0.77-0.99) than children of females with no gestational diabetes. Similar findings emerged for maternal diabetes. Gestational hypertension was associated with a longer time to achieve walking with assistance. These associations did not change after adjustment for gestational age or birthweight. Severe hypertensive disorders of pregnancy were related to a longer time to achieve milestones, but not after adjustment for perinatal factors. INTERPRETATION Children exposed to maternal diabetes, gestational or pre-gestational, may take longer to achieve motor milestones than non-exposed children, independent of maternal obesity. C1 [Ghassabian, Akhgar; Wylie, Amanda; Yeung, Edwina] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, Bethesda, MD 20892 USA. [Sundaram, Rajeshwari] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Biostat & Bioinformat Branch, Div Intramural Populat Hlth Res, NIH, Bethesda, MD 20892 USA. [Bell, Erin] SUNY Albany, Sch Publ Hlth, Dept Environm Hlth Sci, Albany, NY 12222 USA. [Bell, Erin] SUNY Albany, Sch Publ Hlth, Dept Epidemiol & Biostat, Albany, NY 12222 USA. [Bello, Scott C.] CapitalCare Pediat Troy, Troy, NY USA. RP Yeung, E (reprint author), 6100 Execut Blvd,7B03, Bethesda, MD 20892 USA. EM yeungedw@mail.nih.gov OI Ghassabian, Akhgar/0000-0001-9551-4706; Yeung, Edwina/0000-0002-3851-2613; Sundaram, Rajeshwari/0000-0002-6918-5002 FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [HHSN275201200005C, HHSN267200700019C] FX Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD; contracts #HHSN275201200005C, #HHSN267200700019C). The authors thank all the Upstate KIDS families and staff for their important contributions. The funders had no role in the study design, data collection, analysis, interpretation of the data, or writing of the report. The corresponding author (EY) had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. The authors have stated that they had no interests that might be perceived as posing a conflict or bias. NR 25 TC 0 Z9 0 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0012-1622 EI 1469-8749 J9 DEV MED CHILD NEUROL JI Dev. Med. Child Neurol. PD JUL PY 2016 VL 58 IS 7 BP 728 EP 734 DI 10.1111/dmcn.12947 PG 7 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA DV3VZ UT WOS:000382854000022 PM 26502927 ER PT J AU Iranzo, J Krupovic, M Koonin, EV AF Iranzo, Jaime Krupovic, Mart Koonin, Eugene V. TI The Double-Stranded DNA Virosphere as a Modular Hierarchical Network of Gene Sharing SO MBIO LA English DT Article ID PROTEIN-INTERACTION NETWORK; ARCHAEAL VIRUSES; GENOME EVOLUTION; DSDNA BACTERIOPHAGES; REPLICATOR SYSTEMS; ORTHOLOGOUS GENES; CAPSID PROTEINS; MARINE VIRUSES; PSI-BLAST; TELL US AB Virus genomes are prone to extensive gene loss, gain, and exchange and share no universal genes. Therefore, in a broad-scale study of virus evolution, gene and genome network analyses can complement traditional phylogenetics. We performed an exhaustive comparative analysis of the genomes of double-stranded DNA (dsDNA) viruses by using the bipartite network approach and found a robust hierarchical modularity in the dsDNA virosphere. Bipartite networks consist of two classes of nodes, with nodes in one class, in this case genomes, being connected via nodes of the second class, in this case genes. Such a network can be partitioned into modules that combine nodes from both classes. The bipartite network of dsDNA viruses includes 19 modules that form 5 major and 3 minor supermodules. Of these modules, 11 include tailed bacteriophages, reflecting the diversity of this largest group of viruses. The module analysis quantitatively validates and refines previously proposed nontrivial evolutionary relationships. An expansive supermodule combines the large and giant viruses of the putative order "Megavirales" with diverse moderate-sized viruses and related mobile elements. All viruses in this supermodule share a distinct morphogenetic tool kit with a double jelly roll major capsid protein. Herpesviruses and tailed bacteriophages comprise another supermodule, held together by a distinct set of morphogenetic proteins centered on the HK97-like major capsid protein. Together, these two supermodules cover the great majority of currently known dsDNA viruses. We formally identify a set of 14 viral hallmark genes that comprise the hubs of the network and account for most of the intermodule connections. IMPORTANCE Viruses and related mobile genetic elements are the dominant biological entities on earth, but their evolution is not sufficiently understood and their classification is not adequately developed. The key reason is the characteristic high rate of virus evolution that involves not only sequence change but also extensive gene loss, gain, and exchange. Therefore, in the study of virus evolution on a large scale, traditional phylogenetic approaches have limited applicability and have to be complemented by gene and genome network analyses. We applied state-of-the art methods of such analysis to reveal robust hierarchical modularity in the genomes of double-stranded DNA viruses. Some of the identified modules combine highly diverse viruses infecting bacteria, archaea, and eukaryotes, in support of previous hypotheses on direct evolutionary relationships between viruses from the three domains of cellular life. We formally identify a set of 14 viral hallmark genes that hold together the genomic network. C1 [Iranzo, Jaime; Koonin, Eugene V.] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. [Krupovic, Mart] Inst Pasteur, Unite Biol Mol Gene Chez Extremophiles, Paris, France. RP Koonin, EV (reprint author), Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. EM koonin@ncbi.nlm.nih.gov RI Krupovic, Mart/I-4209-2012; Iranzo, Jaime/H-5197-2011 OI Krupovic, Mart/0000-0001-5486-0098; Iranzo, Jaime/0000-0002-4538-7726 FU US Department of Health and Human Services FX This work was funded by US Department of Health and Human Services (Intramural funds). NR 101 TC 3 Z9 3 U1 6 U2 6 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e00978 DI 10.1128/mBio.00978-16 PG 21 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500044 ER PT J AU Kohler, LJ Reed, SR Sarraf, SA Arteaga, DD Newton, HJ Roy, CR AF Kohler, Lara J. Reed, Shawna R. Sarraf, Shireen A. Arteaga, David D. Newton, Hayley J. Roy, Craig R. TI Effector Protein Cig2 Decreases Host Tolerance of Infection by Directing Constitutive Fusion of Autophagosomes with the Coxiella-Containing Vacuole SO MBIO LA English DT Article ID INTRACELLULAR REPLICATION; PARASITOPHOROUS VACUOLE; GALLERIA-MELLONELLA; AXENIC GROWTH; CELL-DEATH; PHASE-I; BURNETII; SECRETION; PATHWAY; IDENTIFICATION AB Coxiella burnetii replicates in an acidified lysosome-derived vacuole. Biogenesis of the Coxiella-containing vacuole (CCV) requires bacterial effector proteins delivered into host cells by the Dot/Icm secretion system. Genetic and cell biological analysis revealed that an effector protein called Cig2 promotes constitutive fusion of autophagosomes with the CCV to maintain this compartment in an autolysosomal stage of maturation. This distinguishes the CCV from other pathogen-containing vacuoles that are targeted by the host autophagy pathway, which typically confers host resistance to infection by delivering the pathogen to a toxic lysosomal environment. By maintaining the CCV in an autolysosomal stage of maturation, Cig2 enabled CCV homotypic fusion and enhanced bacterial virulence in the Galleria mellonella (wax moth) model of infection by a mechanism that decreases host tolerance. Thus, C. burnetii residence in an autolysosomal organelle alters host tolerance of infection, which indicates that Cig2-dependent manipulation of a lysosome-derived vacuole influences the host response to infection. IMPORTANCE Coxiella burnetii is an obligate, intracellular bacterial pathogen that replicates inside a unique, lysosome-like compartment called the Coxiella-containing vacuole (CCV). Over 130 bacterial effector proteins are delivered into the host cell cytosol by the C. burnetii Dot/Icm type IV secretion system. Although the Dot/Icm system is essential for pathogenesis, the functions of most effectors remain unknown. Here we show that the effector protein Cig2 is essential for converting the CCV to an organelle that is similar to the autolysosome. Cig2 function promotes constitutive fusion between the CCV and autophagosomes generated by selective autophagy. Cig2-directed biogenesis of an autolysosomal vacuole is essential for the unique fusogenic properties of the CCV and for virulence in an animal model of disease. This work highlights how bacterial subversion of the host autophagy pathway can influence the cell biological properties of the CCV and influence the host response to infection. C1 [Kohler, Lara J.; Reed, Shawna R.; Arteaga, David D.; Roy, Craig R.] Yale Univ, Sch Med, Dept Microbial Pathogenesis, Boyer Ctr Mol Med, New Haven, CT 06510 USA. [Sarraf, Shireen A.] NINDS, Biochem Sect, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Newton, Hayley J.] Univ Melbourne, Dept Microbiol & Immunol, Peter Doherty Inst Infect & Immun, Melbourne, Vic, Australia. RP Roy, CR (reprint author), Yale Univ, Sch Med, Dept Microbial Pathogenesis, Boyer Ctr Mol Med, New Haven, CT 06510 USA. EM craig.roy@yale.edu OI Newton, Hayley/0000-0002-9240-2001 FU HHS \ National Institutes of Health (NIH) [R01 AI114760, F32 AI114196]; National Science Foundation (NSF) FX This work, including the efforts of Craig R Roy, was funded by HHS vertical bar National Institutes of Health (NIH) (R01 AI114760). This work, including the efforts of Shawna R Reed, was funded by HHS vertical bar National Institutes of Health (NIH) (F32 AI114196). This work, including the efforts of Lara J Kohler, was funded by National Science Foundation (NSF) (Pre Doctoral Fellowship). NR 53 TC 1 Z9 1 U1 1 U2 1 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e01127 DI 10.1128/mBio.01127-16 PG 14 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500062 ER PT J AU Kohler, LJ Reed, SCO Sarraf, SA Arteaga, DD Newton, HJ Roy, CR AF Kohler, Lara J. Reed, Shawna C. O. Sarraf, Shireen A. Arteaga, David D. Newton, Hayley J. Roy, Craig R. TI Effector Protein Cig2 Decreases Host Tolerance of Infection by Directing Constitutive Fusion of Autophagosomes with the Coxiella-Containing Vacuole (vol 7, e01127, 2016) SO MBIO LA English DT Correction C1 [Kohler, Lara J.; Reed, Shawna C. O.; Arteaga, David D.; Roy, Craig R.] Yale Univ, Sch Med, Boyer Ctr Mol Med, Dept Microbial Pathogenesis, New Haven, CT 06510 USA. [Sarraf, Shireen A.] NINDS, Biochem Sect, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Newton, Hayley J.] Univ Melbourne, Peter Doherty Inst Infect & Immun, Dept Microbiol & Immunol, Melbourne, Vic, Australia. RP Roy, CR (reprint author), Yale Univ, Sch Med, Boyer Ctr Mol Med, Dept Microbial Pathogenesis, New Haven, CT 06510 USA. EM craig.roy@yale.edu NR 1 TC 1 Z9 1 U1 0 U2 0 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e01327 DI 10.1128/mBio.01327-16 PG 1 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500063 ER PT J AU Ntumngia, FB Thomson-Luque, R Torres, LD Gunalan, K Carvalho, LH Adams, JH AF Ntumngia, Francis B. Thomson-Luque, Richard Torres, Leticia de Menezes Gunalan, Karthigayan Carvalho, Luzia H. Adams, John H. TI A Novel Erythrocyte Binding Protein of Plasmodium vivax Suggests an Alternate Invasion Pathway into Duffy-Positive Reticulocytes SO MBIO LA English DT Article ID BLOOD-GROUP; MALARIA PARASITES; ANTIBODIES; FALCIPARUM; INFECTION; AFRICANS; RECEPTOR; REVEALS; DOMAINS; ANTIGEN AB Erythrocyte invasion by malaria parasites is essential for blood-stage development and an important determinant of host range. In Plasmodium vivax, the interaction between the Duffy binding protein (DBP) and its cognate receptor, the Duffy antigen receptor for chemokines (DARC), on human erythrocytes is central to blood-stage infection. Contrary to this established pathway of invasion, there is growing evidence of P. vivax infections occurring in Duffy blood group-negative individuals, suggesting that the parasite might have gained an alternative pathway to infect this group of individuals. Supporting this concept, a second distinct erythrocyte binding protein (EBP2), representing a new member of the DBP family, was discovered in P. vivax and may be the ligand in an alternate invasion pathway. Our study characterizes this novel ligand and determines its potential role in reticulocyte invasion by P. vivax merozoites. EBP2 binds preferentially to young (CD71(high)) Duffy-positive (Fy(+)) reticulocytes and has minimal binding capacity for Duffy-negative reticulocytes. Importantly, EBP2 is antigenically distinct from DBP and cannot be functionally inhibited by anti-DBP antibodies. Consequently, our results do not support EBP2 as a ligand for invasion of Duffy-negative blood cells, but instead, EBP2 may represent a novel ligand for an alternate invasion pathway of Duffypositive reticulocytes. IMPORTANCE For decades, P. vivax infections in humans have been defined by a unique requirement for the interaction between the Duffy binding protein ligand of the parasite and the Duffy blood group antigen receptor (DARC). Recent reports of P. vivax infections in Duffy-negative individuals challenge this paradigm and suggest an alternate pathway of infection, potentially using the recently discovered EBP2. However, we demonstrate that EBP2 host cell specificity is more restricted than DBP binding and that EBP2 binds preferentially to Duffy-positive, young reticulocytes. This finding indicates that this DBP paralog does mediate a Duffy-independent pathway of infection. C1 [Ntumngia, Francis B.; Thomson-Luque, Richard; Torres, Leticia de Menezes; Adams, John H.] Univ S Florida, Coll Publ Hlth, Ctr Global Hlth & Infect Dis Res, Tampa, FL 33620 USA. [Torres, Leticia de Menezes; Carvalho, Luzia H.] Fiocruz MS, Ctr Pesquisas Rene Rachou, Belo Horizonte, MG, Brazil. [Gunalan, Karthigayan] NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD USA. RP Ntumngia, FB; Adams, JH (reprint author), Univ S Florida, Coll Publ Hlth, Ctr Global Hlth & Infect Dis Res, Tampa, FL 33620 USA. EM fntumngi@health.usf.edu; usfmalaria@gmail.com RI Adams, John/G-1800-2015 OI Adams, John/0000-0003-3707-7979 FU HHS \ National Institutes of Health (NIH) [R01AI064478, R21AI107455]; Brazilian National Council of Technological and Scientific Development-CNPq [249764/2013-0] FX This work, including the efforts of John H Adams, was funded by HHS vertical bar National Institutes of Health (NIH) (R01AI064478). This work, including the efforts of Francis B Ntumngia, was funded by HHS vertical bar National Institutes of Health (NIH) (R21AI107455). This work, including the efforts of Leticia de Menezes Torres, was funded by Brazilian National Council of Technological and Scientific Development-CNPq for a visiting PhD student fellowship (249764/2013-0). NR 30 TC 1 Z9 1 U1 2 U2 2 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e01261 DI 10.1128/mBio.01261-16 PG 5 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500079 ER PT J AU Olsen, ME Filone, CM Rozelle, D Mire, CE Agans, KN Hensley, L Connor, JH AF Olsen, Michelle E. Filone, Claire Marie Rozelle, Dan Mire, Chad E. Agans, Krystle N. Hensley, Lisa Connor, John H. TI Polyamines and Hypusination Are Required for Ebolavirus Gene Expression and Replication SO MBIO LA English DT Article ID INITIATION-FACTOR 5A; CHLORELLA-VIRUS PBCV-1; NIEMANN-PICK C1; PROMOTES TRANSLATION; RNA SYNTHESIS; AMINO-ACID; INFECTION; DECARBOXYLASE; INHIBITION; CELLS AB Ebolavirus (EBOV) is an RNA virus that is known to cause severe hemorrhagic fever in humans and other primates. EBOV successfully enters and replicates in many cell types. This replication is dependent on the virus successfully coopting a number of cellular factors. Many of these factors are currently unidentified but represent potential targets for antiviral therapeutics. Here we show that cellular polyamines are critical for EBOV replication. We found that small-molecule inhibitors of polyamine synthesis block gene expression driven by the viral RNA-dependent RNA polymerase. Short hairpin RNA (shRNA) knockdown of the polyamine pathway enzyme spermidine synthase also resulted in reduced EBOV replication. These findings led us to further investigate spermidine, a polyamine that is essential for the hypusination of eukaryotic initiation factor 5A (eIF5A). Blocking the hypusination of eIF5A (and thereby inhibiting its function) inhibited both EBOV gene expression and viral replication. The mechanism appears to be due to the importance of hypusinated eIF5A for the accumulation of VP30, an essential component of the viral polymerase. The same reduction in hypusinated eIF5A did not alter the accumulation of other viral polymerase components. This action makes eIF5A function an important gate for proper EBOV polymerase assembly and function through the control of a single virus protein. IMPORTANCE Ebolavirus (EBOV) is one of the most lethal human pathogens known. EBOV requires host factors for replication due to its small RNA genome. Here we show that the host protein eIF5A in its activated form is necessary for EBOV replication. We further show that the mechanism is through the accumulation of a single EBOV protein, VP30. To date, no other host proteins have been shown to interfere with the translation or stability of an EBOV protein. Activated eIF5A is the only protein in the cell known to contain the specific modification of hypusine; therefore, this pathway is a target for drug development. Further investigation into the mechanism of eIF5A interaction with VP30 could provide insight into therapeutics to combat EBOV. C1 [Olsen, Michelle E.; Filone, Claire Marie; Rozelle, Dan; Connor, John H.] Boston Univ, Dept Microbiol, Boston, MA 02215 USA. [Mire, Chad E.; Agans, Krystle N.] Univ Texas Med Branch, Galveston Natl Lab, Galveston, TX 77555 USA. [Hensley, Lisa] US Army Med Res Inst Infect Dis, Ft Detrick, MD USA. [Hensley, Lisa] NIAID, Integrated Res Facil, NIH, Ft Detrick, MD USA. [Filone, Claire Marie] Natl Biodef Anal & Countermeasures Ctr, Ft Detrick, MD USA. [Rozelle, Dan] Pfizer Inc, Andover, MA USA. RP Connor, JH (reprint author), Boston Univ, Dept Microbiol, Boston, MA 02215 USA. EM jhconnor@bu.edu OI Connor, John/0000-0002-8867-7256 FU HHS \ National Institutes of Health (NIH) [AI121933, AI1096159-04, UC7-AI094660]; HHS \ NIH \ National Institute of Allergy and Infectious Diseases (NIAID) [UC6AI058618] FX This work, including the efforts of John Connor, Michelle E. Olsen, Claire Marie Filone, and Dan Rozelle, was funded by HHS vertical bar National Institutes of Health (NIH) (AI121933 and AI1096159-04). This work, including the efforts of Chad Mire and Krystle Agans, was funded by HHS vertical bar National Institutes of Health (NIH) (UC7-AI094660). This work, including the efforts of John Connor, Michelle E. Olsen, Claire Marie Filone, and Dan Rozelle, was funded by HHS vertical bar NIH vertical bar National Institute of Allergy and Infectious Diseases (NIAID) (UC6AI058618). NR 36 TC 2 Z9 2 U1 1 U2 1 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e00882-16 DI 10.1128/mBio.00882-16 PG 10 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500033 ER PT J AU Park, YD Sun, W Salas, A Antia, A Carvajal, C Wang, A Xu, X Meng, ZJ Zhou, M Tawa, GJ Dehdashti, J Zheng, W Henderson, CM Zelazny, AM Williamson, PR AF Park, Yoon-Dong Sun, Wei Salas, Antonio Antia, Avan Carvajal, Cindy Wang, Amy Xu, Xin Meng, Zhaojin Zhou, Ming Tawa, Gregory J. Dehdashti, Jean Zheng, Wei Henderson, Christina M. Zelazny, Adrian M. Williamson, Peter R. TI Identification of Multiple Cryptococcal Fungicidal Drug Targets by Combined Gene Dosing and Drug Affinity Responsive Target Stability Screening SO MBIO LA English DT Article ID VACUOLAR H+-ATPASE; AMPHOTERICIN-B; DEHYDROGENASE; NEOFORMANS; MENINGITIS; BITHIONOL; PARAGONIMIASIS; SIMILARITIES; METABOLITES; INHIBITORS AB Cryptococcus neoformans is a pathogenic fungus that is responsible for up to half a million cases of meningitis globally, especially in immunocompromised individuals. Common fungistatic drugs, such as fluconazole, are less toxic for patients but have low efficacy for initial therapy of the disease. Effective therapy against the disease is provided by the fungicidal drug amphotericin B; however, due to its high toxicity and the difficulty in administering its intravenous formulation, it is imperative to find new therapies targeting the fungus. The antiparasitic drug bithionol has been recently identified as having potent fungicidal activity. In this study, we used a combined gene dosing and drug affinity responsive target stability (GD-DARTS) screen as well as protein modeling to identify a common drug binding site of bithionol within multiple NAD-dependent dehydrogenase drug targets. This combination genetic and proteomic method thus provides a powerful method for identifying novel fungicidal drug targets for further development. IMPORTANCE Cryptococcosis is a neglected fungal meningitis that causes approximately half a million deaths annually. The most effective antifungal agent, amphotericin B, was developed in the 1950s, and no effective medicine has been developed for this disease since that time. A key aspect of amphotericin B's effectiveness is thought to be because of its ability to kill the fungus (fungicidal activity), rather than just stop or slow its growth. The present study utilized a recently identified fungicidal agent, bithionol, to identify potential fungicidal drug targets that can be used in developing modern fungicidal agents. A combined protein and genetic analysis approach was used to identify a class of enzymes, dehydrogenases, that the fungus uses to maintain homeostasis with regard to sugar nutrients. Similarities in the drug target site were found that resulted in simultaneous inhibition and killing of the fungus by bithionol. These studies thus identify a common, multitarget site for antifungal development. C1 [Park, Yoon-Dong; Salas, Antonio; Antia, Avan; Carvajal, Cindy; Williamson, Peter R.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Sun, Wei; Wang, Amy; Xu, Xin; Tawa, Gregory J.; Dehdashti, Jean; Zheng, Wei] NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA. [Meng, Zhaojin; Zhou, Ming] Frederick Natl Lab Canc Res, Prot Characterizat Lab, Canc Res Technol Program, Frederick, MD USA. [Henderson, Christina M.; Zelazny, Adrian M.] NIH, Microbiol Serv, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Williamson, Peter R.] Univ Illinois, Coll Med, Dept Med, Infect Dis Sect, Chicago, IL 60612 USA. RP Williamson, PR (reprint author), NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.; Williamson, PR (reprint author), Univ Illinois, Coll Med, Dept Med, Infect Dis Sect, Chicago, IL 60612 USA. EM williamsonpr@mail.nih.gov RI Zheng, Wei/J-8889-2014 OI Zheng, Wei/0000-0003-1034-0757 FU HHS\NIH\ National Institute of Allergy and Infectious Diseases (NIAID) [AI001123]; HHS \ NIH \ National Institute of Allergy and Infectious Diseases (NIAID) [AI001124] FX This work, including the efforts of Peter R Williamson, was funded by HHS vertical bar NIH vertical bar National Institute of Allergy and Infectious Diseases (NIAID) (AI001123). This work, including the efforts of Peter R Williamson, was funded by HHS vertical bar NIH vertical bar National Institute of Allergy and Infectious Diseases (NIAID) (AI001124). NR 49 TC 0 Z9 0 U1 12 U2 12 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e01073 DI 10.1128/mBio.01073-16 PG 11 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500056 ER PT J AU Tsetsarkin, KA Kenney, H Chen, RB Liu, GP Manukyan, H Whitehead, SS Laassri, M Chumakov, K Pletnev, AG AF Tsetsarkin, Konstantin A. Kenney, Heather Chen, Rubing Liu, Guangping Manukyan, Hasmik Whitehead, Stephen S. Laassri, Majid Chumakov, Konstantin Pletnev, Alexander G. TI A Full-Length Infectious cDNA Clone of Zika Virus from the 2015 Epidemic in Brazil as a Genetic Platform for Studies of Virus-Host Interactions and Vaccine Development SO MBIO LA English DT Article ID JAPANESE-ENCEPHALITIS-VIRUS; COOPERATIVE INTERACTIONS; RT-PCR; RNA; DNA; ROBUSTNESS; EVOLUTION; AMERICA; AMPLIFICATION; TRANSMISSION AB An arthropod-borne virus, Zika virus (ZIKV), has recently emerged as a major human pathogen. Associated with complications during perinatal development and Guillain-Barr syndrome in adults, ZIKV raises new challenges for understanding the molecular determinants of flavivirus pathogenesis. This underscores the necessity for the development of a reverse genetic system based on an epidemic ZIKV strain. Here, we describe the generation and characterization in cell cultures of an infectious cDNA clone of ZIKV isolated from the 2015 epidemic in Brazil. The cDNA-derived ZIKV replicated efficiently in a variety of cell lines, including those of both neuronal and placental origin. We observed that the growth of cDNA-derived virus was attenuated compared to the growth of the parental isolate in most cell lines, which correlates with substantial differences in sequence heterogeneity between these viruses that were determined by deep-sequencing analysis. Our findings support the role of genetic diversity in maintaining the replicative fitness of viral populations under changing conditions. Moreover, these results indicate that caution should be exercised when interpreting the results of reverse-genetics experiments in attempts to accurately predict the biology of natural viruses. Finally, a Vero cell-adapted cDNA clone of ZIKV was generated that can be used as a convenient platform for studies aimed at the development of ZIKV vaccines and therapeutics. IMPORTANCE The availability of genetic tools and laboratory models determines the progress in understanding mechanisms of virus emergence and pathogenesis. Recent large-scale outbreaks of Zika virus (ZIKV) that were linked to complications during perinatal development and Guillain-Barre syndrome in adults emphasize the urgency for the development of a reverse-genetics system based on an epidemic ZIKV strain. Here, we report a stable infectious cDNA clone for ZIKV isolated during the 2015 epidemic in Brazil, as well as a Vero cell-adapted version of it, which will be used for virus-host interaction studies and vaccine development. C1 [Tsetsarkin, Konstantin A.; Kenney, Heather; Liu, Guangping; Whitehead, Stephen S.; Pletnev, Alexander G.] NIAID, Infect Dis Lab, NIH, Bethesda, MD 20892 USA. [Chen, Rubing] Univ Texas Med Branch, Dept Pathol, Inst Human Infect & Immun, Galveston, TX 77555 USA. [Manukyan, Hasmik; Laassri, Majid; Chumakov, Konstantin] US FDA, Ctr Biol Evaluat & Res, Silver Spring, MD USA. RP Pletnev, AG (reprint author), NIAID, Infect Dis Lab, NIH, Bethesda, MD 20892 USA. EM apletnev@niaid.nih.gov FU Division of Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health FX This work was supported by the Division of Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health NR 44 TC 10 Z9 10 U1 49 U2 49 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e01114 DI 10.1128/mBio.01114-16 PG 8 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500060 ER PT J AU Wu, WM Leavitt, JC Cheng, NQ Gilcrease, EB Motwani, T Teschke, CM Casjens, SR Steven, AC AF Wu, Weimin Leavitt, Justin C. Cheng, Naiqian Gilcrease, Eddie B. Motwani, Tina Teschke, Carolyn M. Casjens, Sherwood R. Steven, Alasdair C. TI Localization of the Houdinisome (Ejection Proteins) inside the Bacteriophage P22 Virion by Bubblegram Imaging SO MBIO LA English DT Article ID COAT PROTEIN; RADIATION-DAMAGE; SALMONELLA PHAGE-P22; I-DOMAIN; NUCLEOPROTEIN COMPLEXES; 3-DIMENSIONAL STRUCTURE; SCAFFOLDING PROTEIN; ELECTRON-MICROSCOPY; BINDING DOMAIN; PORTAL VERTEX AB The P22 capsid is a T=7 icosahedrally symmetric protein shell with a portal protein dodecamer at one 5-fold vertex. Extending outwards from that vertex is a short tail, and putatively extending inwards is a 15-nm-long alpha-helical barrel formed by the C-terminal domains of portal protein subunits. In addition to the densely packed genome, the capsid contains three "ejection proteins" (E-proteins [gp7, gp16, and gp20]) destined to exit from the tightly sealed capsid during the process of DNA delivery into target cells. We estimated their copy numbers by quantitative SDS-PAGE as approximately 12 molecules per virion of gp16 and gp7 and 30 copies of gp20. To localize them, we used bubblegram imaging, an adaptation of cryo-electron microscopy in which gaseous bubbles induced in proteins by prolonged irradiation are used to map the proteins' locations. Weapplied this technique to wild-type P22, a triple mutant lacking all three E-proteins, and three mutants each lacking one E-protein. We conclude that all three E-proteins are loosely clustered around the portal axis, in the region displaced radially inwards from the portal crown. The bubblegram data imply that approximately half of the alpha-helical barrel seen in the portal crystal structure is disordered in the mature virion, and parts of the disordered region present binding sites for E-proteins. Thus positioned, the E-proteins are strategically placed to pass down the shortened barrel and through the portal ring and the tail, as they exit from the capsid during an infection. IMPORTANCE While it has long been appreciated that capsids serve as delivery vehicles for viral genomes, there is now growing awareness that viruses also deliver proteins into their host cells. P22 has three such proteins (ejection proteins [E-proteins]), whose initial locations in the virion have remained unknown despite their copious amounts (total of 2.5 MDa). This study succeeded in localizing them by the novel technique of bubblegram imaging. The P22 E-proteins are seen to be distributed around the orifice of the portal barrel. Interestingly, this barrel, 15 nm long in a crystal structure, is only about half as long in situ: the remaining, disordered, portion appears to present binding sites for E-proteins. These observations document a spectacular example of a regulatory order-disorder transition in a supramolecular system and demonstrate the potential of bubblegram imaging to map the components of other viruses as well as cellular complexes. C1 [Wu, Weimin; Cheng, Naiqian; Steven, Alasdair C.] NIAMSD, Struct Biol Res Lab, NIH, Bethesda, MD 20892 USA. [Leavitt, Justin C.; Gilcrease, Eddie B.; Casjens, Sherwood R.] Univ Utah, Sch Med, Dept Pathol, Div Microbiol & Immunol, Salt Lake City, UT USA. [Motwani, Tina; Teschke, Carolyn M.] Univ Connecticut, Dept Mol & Cell Biol, Storrs, CT USA. [Teschke, Carolyn M.] Univ Connecticut, Dept Chem, U-60, Storrs, CT USA. [Leavitt, Justin C.] Texas A&M Univ, Dept Anim Sci, College Stn, TX 77843 USA. RP Steven, AC (reprint author), NIAMSD, Struct Biol Res Lab, NIH, Bethesda, MD 20892 USA. EM stevena@mail.nih.gov FU HHS \ NIH \ National Institute of General Medical Sciences (NIGMS) [GM076661, GM114817]; HHS \ NIH \ National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) [ZIA AR027002-38] FX This work, including the efforts of Carolyn M. Teschke, was funded by HHS vertical bar NIH vertical bar National Institute of General Medical Sciences (NIGMS) (GM076661). This work, including the efforts of Sherwood R Casjens, was funded by HHS vertical bar NIH vertical bar National Institute of General Medical Sciences (NIGMS) (GM114817). This work, including the efforts of Alasdair C. Steven, was funded by the intramural research program of HHS vertical bar NIH vertical bar National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) (ZIA AR027002-38). NR 61 TC 1 Z9 1 U1 5 U2 5 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2150-7511 J9 MBIO JI mBio PD JUL-AUG PY 2016 VL 7 IS 4 AR e01152 DI 10.1128/mBio.01152-16 PG 10 WC Microbiology SC Microbiology GA DW1YQ UT WOS:000383440500066 ER PT J AU Koch, KL Hasler, WL Yates, KP Parkman, HP Pasricha, PJ Calles-Escandon, J Snape, WJ Abell, TL Mccallum, RW Nguyen, LA Sarosiek, I Farrugia, G Tonascia, J Lee, L Miriel, L Hamilton, F AF Koch, K. L. Hasler, W. L. Yates, K. P. Parkman, H. P. Pasricha, P. J. Calles-Escandon, J. Snape, W. J. Abell, T. L. Mccallum, R. W. Nguyen, L. A. Sarosiek, I. Farrugia, G. Tonascia, J. Lee, L. Miriel, L. Hamilton, F. CA Niddk Gastroparesis Clinical Res TI Baseline features and differences in 48 week clinical outcomes in patients with gastroparesis and type 1 vs type 2 diabetes SO NEUROGASTROENTEROLOGY AND MOTILITY LA English DT Article DE gastric emptying; gastroparesis; hyperglycemia; nausea and vomiting; type 1 and type 2 diabetes mellitus ID UPPER GASTROINTESTINAL DISORDERS; IDIOPATHIC GASTROPARESIS; SYMPTOM SEVERITY; MELLITUS; PREVALENCE; NAUSEA; DYSFUNCTION; VALIDATION; COHORT; INDEX AB Background In studies of diabetic gastroparesis, patients with type 1 and type 2 diabetes mellitus (T1DM, T2DM) are often combined for analyses. We compared gastroparesis severity, healthcare utilization, psychological function, and quality of life in T1DM vs T2DM gastroparesis patients. Methods Questionnaire, laboratory, and scintigraphy data from patients with gastroparesis and T1DM and T2DM from seven centers of the National Institute of Diabetes and Digestive and Kidney Diseases Gastroparesis Clinical Research Consortium Registry were compared at enrollment and after 48 weeks. Multiple regression models assessed baseline and follow-up differences between diabetes subtypes. Key Results At baseline, T1DM patients (N = 78) had slower gastric emptying, more hospitalizations, more gastric stimulator implantations, higher hemoglobin A1c (HbA1c), and more anxiety vs T2DM patients (N = 59). Independent discriminators of patients with T1DM vs T2DM included worse gastroesophageal reflux disease, less bloating, more peripheral neuropathy, and fewer comorbidities (p = 0.05). On follow-up, gastrointestinal (GI) symptom scores decreased only in T2DM (p < 0.05), but not in T1DM patients who reported greater prokinetic, proton pump inhibitor, anxiolytic, and gastric stimulator usage over 48 weeks (p = 0.03). Gastrointestinal symptoms at baseline and 48 weeks with both subtypes were not associated with HbA1c, peripheral neuropathy, psychological factors, or quality of life. Conclusions & Inferences Baseline symptoms were similar in T1DM and T2DM patients, even though T1DM patients had worse gastric emptying delays and higher HbA1c suggesting other factors mediate symptom severity. Symptom scores at 48 weeks decreased in T2DM, but not T1DM patients, despite increased medical and surgical treatment utilization by T1DM patients. Defining causes of different outcomes in diabetic gastroparesis warrants further investigation. C1 [Koch, K. L.] Wake Forest Univ, Gastroenterol Sect, Winston Salem, NC 27109 USA. [Hasler, W. L.] Univ Michigan, Div Gastroenterol, Ann Arbor, MI 48109 USA. [Yates, K. P.; Tonascia, J.; Lee, L.; Miriel, L.] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA. [Parkman, H. P.] Temple Univ, Gastroenterol Sect, Philadelphia, PA 19122 USA. [Pasricha, P. J.] Johns Hopkins Bayview Med Ctr, Ctr Neurogastroenterol, Baltimore, MD USA. [Calles-Escandon, J.] MetroHlth Med Ctr, Endocrinol Sect, Cleveland, OH USA. [Snape, W. J.] Calif Pacific Med Ctr, San Francisco, CA USA. [Abell, T. L.] Univ Louisville, Digest & Liver Hlth, Louisville, KY 40292 USA. [Mccallum, R. W.; Sarosiek, I.] Texas Tech Univ, Div Gastroenterol, El Paso, TX USA. [Nguyen, L. A.] Stanford Univ, Div Gastroenterol, Palo Alto, CA 94304 USA. [Farrugia, G.] Mayo Clin, Div Gastroenterol & Hepatol, Rochester, MN USA. [Hamilton, F.] NIDDK, Bethesda, MD 20892 USA. RP Hasler, WL (reprint author), Univ Michigan Hlth Syst, Taubman Ctr 3912, SPC 5362, Ann Arbor, MI 48109 USA. EM whasler@umich.edu FU National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [U01DK073983, U01DK073975, U01DK073985, U01DK074007, U01DK073974, U01DK074008] FX This project received support from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (grants U01DK073983, U01DK073975, U01DK073985, U01DK074007, U01DK073974, U01DK074008) as part of its funding of the Gastroparesis Clinical Research Consortium. NR 50 TC 3 Z9 3 U1 1 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1350-1925 EI 1365-2982 J9 NEUROGASTROENT MOTIL JI Neurogastroenterol. Motil. PD JUL PY 2016 VL 28 IS 7 BP 1001 EP 1015 DI 10.1111/nmo.12800 PG 15 WC Gastroenterology & Hepatology; Clinical Neurology; Neurosciences SC Gastroenterology & Hepatology; Neurosciences & Neurology GA DV9VR UT WOS:000383290800006 PM 26946489 ER PT J AU Costello, RB Dwyer, JT Bailey, RL AF Costello, Rebecca B. Dwyer, Johanna T. Bailey, Regan L. TI Chromium supplements for glycemic control in type 2 diabetes: limited evidence of effectiveness SO NUTRITION REVIEWS LA English DT Review DE chromium; fasting plasma glucose; hemoglobin A1c; type 2 diabetes mellitus ID PLACEBO-CONTROLLED TRIAL; TOTAL PARENTERAL-NUTRITION; GLUCOSE-TOLERANCE; DOUBLE-BLIND; INSULIN-RESISTANCE; BREWERS-YEAST; SERUM-LIPIDS; INORGANIC CHROMIUM; DIETARY CHROMIUM; BODY-COMPOSITION AB Some adults with type 2 diabetes mellitus (T2DM) believe that chromium-containing supplements will help control their disease, but the evidence is mixed. This narrative review examines the efficacy of chromium supplements for improving glycemic control as measured by decreases in fasting plasma glucose (FPG) or hemoglobin A1c (HbA1c). Using systematic search criteria, 20 randomized controlled trials of chromium supplementation in T2DM patients were identified. Clinically meaningful treatment goals were defined as an FPG of <= 7.2mmol/dL, a decline in HbA1c to <= 7%, or a decrease of >= 0.5% in HbA1c. In only a few randomized controlled trials did FPG (5 of 20), HbA1c (3 of 14), or both (1 of 14) reach the treatment goals with chromium supplementation. HbA1c declined by >= 0.5% in 5 of 14 studies. On the basis of the low strength of existing evidence, chromium supplements have limited effectiveness, and there is little rationale to recommend their use for glycemic control in patients with existing T2DM. Future meta-analyses should include only high-quality studies with similar forms of chromium and comparable inclusion/exclusion criteria to provide scientifically sound recommendations for clinicians. C1 [Costello, Rebecca B.; Dwyer, Johanna T.; Bailey, Regan L.] NIH, Off Dietary Supplements, 6100 Execut Blvd,Ste 3B01, Bethesda, MD 20892 USA. [Dwyer, Johanna T.] Tufts Univ, Jean Mayer USDA Human Nutr Res Ctr Aging, Sch Med, Boston, MA 02111 USA. [Dwyer, Johanna T.] Tufts Univ, Jean Mayer USDA Human Nutr Res Ctr Aging, Friedman Sch Nutr Sci & Policy, Boston, MA 02111 USA. [Bailey, Regan L.] Purdue Univ, Dept Nutr Sci, W Lafayette, IN 47907 USA. RP Costello, RB (reprint author), NIH, Off Dietary Supplements, 6100 Execut Blvd,Ste 3B01, Bethesda, MD 20892 USA. EM costellb@od.nih.gov FU Office of Dietary Supplements of the National Institutes of Health, US Department of Health and Human Services; US Department of Agriculture, Agricultural Research Service [58-1950-0-014] FX This work was supported by the Office of Dietary Supplements of the National Institutes of Health, US Department of Health and Human Services. Partial support was also provided by the US Department of Agriculture, Agricultural Research Service, under agreement no. 58-1950-0-014. NR 75 TC 1 Z9 1 U1 10 U2 10 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0029-6643 EI 1753-4887 J9 NUTR REV JI Nutr. Rev. PD JUL PY 2016 VL 74 IS 7 BP 455 EP 468 DI 10.1093/nutrit/nuw011 PG 14 WC Nutrition & Dietetics SC Nutrition & Dietetics GA DV9RO UT WOS:000383279100004 PM 27261273 ER PT J AU Boyles, AL Yetley, EA Thayer, KA Coates, PM AF Boyles, Abee L. Yetley, Elizabeth A. Thayer, Kristina A. Coates, Paul M. TI Safe use of high intakes of folic acid: research challenges and paths forward SO NUTRITION REVIEWS LA English DT Review DE high vitamin intake; folic acid; research recommendations; safety ID AUTISM SPECTRUM DISORDERS; NATIONAL-HEALTH; UNITED-STATES; SERUM FOLATE; SUPPLEMENTATION; POPULATION; RISK AB Adequate folic acid intake is an effective dietary-based prevention tool for reducing the risk of neural tube defects. Achieving adequate intake for the prevention of neural tube defects frequently requires the consumption of foods fortified with folic acid and/or the use of folic acid-containing dietary supplements. To date, research on the potential for adverse effects of high intakes of folic acid has been limited. Without such research, it is difficult to define a value for high intake. In May 2015, an expert panel was tasked with examining the available scientific literature and making research recommendations within 4 general categories of potential folate-related adverse health effects: cancer, cognition in conjunction with vitamin B-12 deficiency, hypersensitivity-related outcomes, and thyroid and diabetes-related disorders. This article summarizes the expert panel's conclusions, outlines the challenges faced when reviewing the literature, and examines some of the panel's recommendations for research. C1 [Boyles, Abee L.; Thayer, Kristina A.] NIEHS, Off Hlth Assessment & Translat, Div Natl Toxicol Program, NIH,Dept Hlth & Human Serv, Durham, NC USA. [Yetley, Elizabeth A.; Coates, Paul M.] NIH, Off Dietary Supplements, Dept Hlth & Human Serv, Bldg 10, Bethesda, MD 20892 USA. RP Boyles, AL (reprint author), NIEHS, POB 12233,Mail Drop K2-04, Durham, NC 27709 USA. EM abee.boyles@nih.gov OI Boyles, Abee/0000-0002-8711-2077 NR 18 TC 2 Z9 2 U1 9 U2 12 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0029-6643 EI 1753-4887 J9 NUTR REV JI Nutr. Rev. PD JUL PY 2016 VL 74 IS 7 BP 469 EP 474 DI 10.1093/nutrit/nuw015 PG 6 WC Nutrition & Dietetics SC Nutrition & Dietetics GA DV9RO UT WOS:000383279100005 PM 27272334 ER PT J AU Huang, SF Wu, HDI Chen, YT Murthy, SRK Chiu, YT Chang, Y Chang, IC Yang, XY Loh, YP AF Huang, Shiu-Feng Wu, Hong-Dar Isaac Chen, Ya-Ting Murthy, Saravana R. K. Chiu, Yu-Ting Chang, Yu Chang, Il-Chi Yang, Xuyu Loh, Y. Peng TI Carboxypeptidase E is a prediction marker for tumor recurrence in early-stage hepatocellular carcinoma SO TUMOR BIOLOGY LA English DT Article DE Carboxypeptidase E; Hepatocellular carcinoma; Recurrence-free survival; Overall survival; Biomarker ID PATHWAY SORTING RECEPTOR; COLORECTAL-CANCER; POOR-PROGNOSIS; RESECTION; EXPRESSION; TRANSPLANTATION; ENDOCRINE; SURVIVAL; STRESS; CDNA AB Tumor recurrence and metastasis are the major causes of death for hepatocellular carcinoma (HCC) patients who are able to receive curative resection. Identifying the predicting biomarkers for tumor recurrence would improve their survival. RNA extracted from fresh frozen tumors and adjacent non-tumor liver tissues of 120 HCC patients were obtained from Taiwan Liver Cancer Network (TLCN) in year 2010 for determination of the carboxypeptidase E (CPE) expression level (including its splicing mutant CPE-Delta N) in the tumor tissue (T) and paired non-tumor liver tissue (N) by real-time quantitative polymerase chain reaction. All patients were male, had chronic hepatitis B virus infection, were in the early pathology stage, and received curative resection. The T/N ratio of the CPE expression level was correlated with the updated survival data from TLCN in 2015. The CPE expression level in the 120 HCC patients was divided into three groups according to the T/N ratio: < 1, aeyen1 and aecurrency sign2, and > 2, respectively. By multivariate analyses, the recurrence-free survival (RFS) was only significantly associated with the pathology stage and the CPE expression level. For overall survival (OS), only the CPE expression level was the significant prognostic factor. The CPE expression level was also significantly correlated with the tumor recurrence for both stage I (p = 0.0106) and stage II patients (p = 0.0006). The CPE mRNA expression level in HCC can be a useful biomarker for predicting tumor recurrence in HCC patients who are in the early pathology stage and able to receive curative resection. C1 [Huang, Shiu-Feng; Chen, Ya-Ting; Chiu, Yu-Ting; Chang, Yu; Chang, Il-Chi] Natl Hlth Res Inst, Inst Mol & Genom Med, 35 Keyan Rd, Miaoli 350, Taiwan. [Huang, Shiu-Feng] Chung Shan Med Univ Hosp, Dept Anat Pathol, Taichung, Taiwan. [Wu, Hong-Dar Isaac] Natl Chung Hsing Univ, Dept Appl Math, Taichung, Taiwan. [Wu, Hong-Dar Isaac] Natl Chung Hsing Univ, Inst Stat, Taichung, Taiwan. [Murthy, Saravana R. K.; Yang, Xuyu; Loh, Y. Peng] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cellular Neurobiol Sect, Program Dev Neurosci, NIH, Bldg 49,Rm 6A-10,49 Convent Dr, Bethesda, MD 20892 USA. RP Huang, SF (reprint author), Natl Hlth Res Inst, Inst Mol & Genom Med, 35 Keyan Rd, Miaoli 350, Taiwan.; Huang, SF (reprint author), Chung Shan Med Univ Hosp, Dept Anat Pathol, Taichung, Taiwan.; Loh, YP (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Cellular Neurobiol Sect, Program Dev Neurosci, NIH, Bldg 49,Rm 6A-10,49 Convent Dr, Bethesda, MD 20892 USA. EM sfhuang@nhri.org.tw; lohp@mail.nih.gov FU National Science Council [NSC-100-c-2320-400-012]; National Health Research Institutes [MG103-PP-004]; Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, USA [HD008804] FX This research was supported by grants from National Science Council (NSC-100-c-2320-400-012) and National Health Research Institutes (MG103-PP-004) to Dr. Shiu-Feng Huang and by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, USA (HD008804) to Dr. Y. Peng Loh. NR 29 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 1010-4283 EI 1423-0380 J9 TUMOR BIOL JI Tumor Biol. PD JUL PY 2016 VL 37 IS 7 BP 9745 EP 9753 DI 10.1007/s13277-016-4814-7 PG 9 WC Oncology SC Oncology GA DU4HU UT WOS:000382174500126 PM 26803519 ER PT J AU Gliwa, C Yurkiewicz, IR Lehmann, LS Hull, SC Jones, N Berkman, BE AF Gliwa, Catherine Yurkiewicz, Ilana R. Lehmann, Lisa Soleymani Hull, Sara Chandros Jones, Nathan Berkman, Benjamin E. TI Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants SO GENETICS IN MEDICINE LA English DT Article DE genomic sequencing; incidental findings; institutional review board; research ethics ID GENOMIC RESEARCH; WORKING GROUP; RECOMMENDATIONS; RETURN; FRAMEWORK; EXOME AB Purpose: Researchers' obligations to disclose genetic incidental findings (GIFs) have been widely debated, but there has been little empirical study of the engagement of institutional review boards (IRBs) with this issue. Methods: This article presents data from the first extensive (n = 796) national survey of IRB professionals' understanding of, experience with, and beliefs surrounding GIFs. Results: Most respondents had dealt with questions about GIFs (74%), but only a minority (47%) felt prepared to address them. Although a majority believed that there is an obligation to disclose GIFs (78%), there is still not consensus about the supporting ethical principles. Respondents generally did not endorse the idea that researchers' additional time and effort (7%), and lack of resources (29%), were valid reasons for diminishing a putative obligation. Most (96%) supported a right not to know, but this view became less pronounced (63%) when framed in terms of specific case studies. Conclusions: IRBs are actively engaged with GIFs but have not yet reached consensus. Respondents were uncomfortable with arguments that could be used to limit an obligation to return GIFs. This could indicate that IRBs are providing some of the impetus for the trend toward returning GIFs, although questions remain about the relative contribution of other stakeholders. C1 [Gliwa, Catherine] Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA. [Gliwa, Catherine; Hull, Sara Chandros; Berkman, Benjamin E.] NIH, Dept Bioeth, Ctr Clin, Bethesda, MD 20892 USA. [Yurkiewicz, Ilana R.] Harvard Med Sch, Boston, MA USA. [Lehmann, Lisa Soleymani] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA. [Lehmann, Lisa Soleymani] Harvard Med Sch, Dept Global Hlth & Social Med, Boston, MA USA. [Lehmann, Lisa Soleymani] Harvard TH Chan Sch Publ Hlth, Dept Hlth Policy & Management, Boston, MA USA. [Hull, Sara Chandros; Berkman, Benjamin E.] NHGRI, Bioeth Core, NIH, Bethesda, MD 20892 USA. [Jones, Nathan] Univ Wisconsin, Survey Ctr, Madison, WI USA. RP Berkman, BE (reprint author), NIH, Dept Bioeth, Ctr Clin, Bethesda, MD 20892 USA.; Berkman, BE (reprint author), NHGRI, Bioeth Core, NIH, Bethesda, MD 20892 USA. EM berkmanbe@mail.nih.gov OI Lehmann, Lisa Soleymani/0000-0001-8779-1244; Berkman, Benjamin/0000-0002-9098-0799; Hull, Sara/0000-0001-8742-4997 FU Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health FX The authors declare no conflict of interest. This research was supported in part by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. The opinions expressed here are our own and do not reflect the policies or positions of the National Institutes of Health, the U.S. Public Health Service, or the U.S. Department of Health and Human Services. NR 23 TC 1 Z9 1 U1 5 U2 5 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1098-3600 EI 1530-0366 J9 GENET MED JI Genet. Med. PD JUL PY 2016 VL 18 IS 7 BP 705 EP 711 DI 10.1038/gim.2015.149 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA DS9XL UT WOS:000381136700009 PM 26583685 ER PT J AU Bharti, SK Awate, S Banerjee, T Brosh, RM AF Bharti, Sanjay Kumar Awate, Sanket Banerjee, Taraswi Brosh, Robert M., Jr. TI Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles SO GENES LA English DT Review DE G-quadruplex; secondary DNA structure; helicase; replication; genetic diseases; FANCJ; genomic instability; Fanconi Anemia; cancer ID G-QUADRUPLEX DNA; WERNER-SYNDROME HELICASE; ANEMIA GROUP J; REV1 PROTEIN INTERACTS; HOMOLOGOUS RECOMBINATION; REPLICATION FORK; GENOMIC STABILITY; STRUCTURED DNA; BREAST-CANCER; HUMAN-CELLS AB Mounting evidence indicates that alternate DNA structures, which deviate from normal double helical DNA, form in vivo and influence cellular processes such as replication and transcription. However, our understanding of how the cellular machinery deals with unusual DNA structures such as G-quadruplexes (G4), triplexes, or hairpins is only beginning to emerge. New advances in the field implicate a direct role of the Fanconi Anemia Group J (FANCJ) helicase, which is linked to a hereditary chromosomal instability disorder and important for cancer suppression, in replication past unusual DNA obstacles. This work sets the stage for significant progress in dissecting the molecular mechanisms whereby replication perturbation by abnormal DNA structures leads to genomic instability. In this review, we focus on FANCJ and its role to enable efficient DNA replication when the fork encounters vastly abundant naturally occurring DNA obstacles, which may have implications for targeting rapidly dividing cancer cells. C1 [Bharti, Sanjay Kumar; Awate, Sanket; Banerjee, Taraswi; Brosh, Robert M., Jr.] NIA, Lab Mol Gerontol, NIH, Biomed Res Ctr, 251 Bayview Blvd, Baltimore, MD 21224 USA. RP Brosh, RM (reprint author), NIA, Lab Mol Gerontol, NIH, Biomed Res Ctr, 251 Bayview Blvd, Baltimore, MD 21224 USA. EM sanjay.bharti@nih.gov; sanket.awate@nih.gov; taraswi.banerjee@nih.gov; broshr@mail.nih.gov FU Intramural Research Program of the NIH, National Institute on Aging; Fanconi Anemia Research Fund FX This research was supported entirely by the Intramural Research Program of the NIH, National Institute on Aging and the Fanconi Anemia Research Fund (RMB). The authors wish to thank Jimmy Burril for the artwork presented in Figure 1. NR 101 TC 0 Z9 0 U1 6 U2 6 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 2073-4425 J9 GENES-BASEL JI Genes PD JUL PY 2016 VL 7 IS 7 DI 10.3390/genes7070031 PG 14 WC Genetics & Heredity SC Genetics & Heredity GA DT5AO UT WOS:000381493100002 ER PT J AU Hammond, JA Carrington, M Khakoo, SI AF Hammond, John A. Carrington, Mary Khakoo, Salim I. TI A vision of KIR variation at super resolution SO IMMUNOLOGY LA English DT Review DE inhibitory; activating receptors; killer cell immunoglobulin-like receptors; natural killer cells ID CELL-RECEPTOR; DIVERSITY; CLONING; NKB1 AB The Ninth Killer Cell Immunoglobulin-Like Receptor (KIR) Workshop was held in Winchester, UK late in the summer of 2015. The extraordinary diversity of KIR and its functional consequences were key themes throughout the meeting. Novel sequencing technologies and new bioinformatics techniques continue to increase our understanding of the genetic diversity and evolution of the KIR; while a deeper understanding of KIR functions, including their specificity for MHC and its peptide ligands, are generating more refined models of their role in disease. Limited to 100 delegates from around the world, this intimate workshop facilitated vigorous discussion, generating new ideas for research in this ever-expanding field. C1 [Hammond, John A.] Pirbright, Pirbright Inst, Woking, Surrey, England. [Carrington, Mary] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Canc & Inflammat Program, Frederick, MD USA. [Carrington, Mary] Ragon Inst MGH MIT & Harvard, Cambridge, MA USA. [Khakoo, Salim I.] Univ Southampton, Clin & Expt Sci, Southampton, Hants, England. RP Khakoo, SI (reprint author), Univ Southampton, Fac Med, Southampton Gen Hosp, Mail Point 811,Level E South Acad Block, Southampton SO16 6YD, Hants, England. EM S.I.Khakoo@soton.ac.uk RI Institute, Pirbright/K-4476-2014 FU Frederick National Laboratory for Cancer Research [HHSN261200800001E]; Intramural Research Program of the NIH, Frederick National Laboratory, Center for Cancer Research; Biotechnology and Biological Sciences Research Council Institute Strategic Program on Livestock Viral Diseases awarded FX We would like to acknowledge the British Society for Immunology, the meeting sponsors, the participants and those individuals whose work has not been included in this piece. We thank Peter Parham for critical reading of the manuscript. This project has been funded in whole or in part with federal funds from the Frederick National Laboratory for Cancer Research, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products or organizations imply endorsement by the U.S. Government. This Research was supported in part by the Intramural Research Program of the NIH, Frederick National Laboratory, Center for Cancer Research. JAH was supported by a Biotechnology and Biological Sciences Research Council Institute Strategic Program on Livestock Viral Diseases awarded to The Pirbright Institute. NR 7 TC 1 Z9 1 U1 2 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0019-2805 EI 1365-2567 J9 IMMUNOLOGY JI Immunology PD JUL PY 2016 VL 148 IS 3 BP 249 EP 252 DI 10.1111/imm.12606 PG 4 WC Immunology SC Immunology GA DT2BA UT WOS:000381284600003 PM 26938992 ER PT J AU Hojeij, R Domingos-Pereira, S Nkosi, M Gharbi, D Derre, L Schiller, JT Jichlinski, P Nardelli-Haefliger, D AF Hojeij, Rim Domingos-Pereira, Sonia Nkosi, Marianne Gharbi, Dalila Derre, Laurent Schiller, John T. Jichlinski, Patrice Nardelli-Haefliger, Denise TI Immunogenic Human Papillomavirus Pseudovirus-Mediated Suicide-Gene Therapy for Bladder Cancer SO INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES LA English DT Article DE human papillomavirus vectors; tumor-targeting; immunogenic suicide-gene therapy; bladder cancer ID INVASIVE UROTHELIAL CARCINOMA; CELL-DEATH; EAU GUIDELINES; COMBINATION; IMMUNIZATION; VACCINATION; MANAGEMENT; DELIVERY; VECTORS; UPDATE AB Bladder cancer is the second most common urological malignancy in the world. In 70% of cases it is initially diagnosed as non-muscle-invasive bladder cancer (NMIBC) and it is amenable to local treatments, with intravesical (IVES) Bacillus-Calmette-Guerin (BCG) immunotherapy being routinely used after transurethral resection of the lesion. However, this treatment is associated with significant side-effects and treatment failures, highlighting the necessity of novel strategies. One potent approach is the suicide-gene mediated therapy/prodrug combination, provided tumor-specificity can be ensured and anti-tumor immune responses induced. Using the mouse syngeneic orthotopic MB49-bladder tumor model, here we show that IVES human papillomavirus non-replicative pseudovirions (PsV) can pseudoinfect tumors with a ten-fold higher efficacy than normal bladders. In addition, PsV carrying the suicide-gene herpes-simplex virus thymidine kinase (PsV-TK) combined to Ganciclovir (GCV) led to immunogenic cell-death of tumor cells in vitro and to MB49-specific CD8 T-cells in vivo. This was associated with reduction in bladder-tumor growth and increased mice survival. Altogether, our data show that IVES PsV-TK/GCV may be a promising alternative or combinatory treatment for NMIBC. C1 [Hojeij, Rim; Domingos-Pereira, Sonia; Nkosi, Marianne; Gharbi, Dalila; Derre, Laurent; Jichlinski, Patrice; Nardelli-Haefliger, Denise] CHU Vaudois, Dept Urol, CH-1011 Lausanne, Switzerland. [Hojeij, Rim; Domingos-Pereira, Sonia; Nkosi, Marianne; Gharbi, Dalila; Derre, Laurent; Jichlinski, Patrice; Nardelli-Haefliger, Denise] Univ Lausanne, CH-1011 Lausanne, Switzerland. [Schiller, John T.] NCI, Cellular Oncol Lab, NIH, Bethesda, MD 20892 USA. RP Nardelli-Haefliger, D (reprint author), CHU Vaudois, Dept Urol, CH-1011 Lausanne, Switzerland.; Nardelli-Haefliger, D (reprint author), Univ Lausanne, CH-1011 Lausanne, Switzerland. EM reem.hojeij@gmail.com; Sonia.domingos-pereira@chuv.ch; marianne.nkosi@epfl.ch; dalilagh8@gmail.com; laurent.derre@chuv.ch; schillej@dc37a.nci.nih.gov; patrice.jichlinski@chuv.ch; dnardell@hospvd.ch OI nardelli-haefliger, denise/0000-0003-1812-9905 FU Swiss Cancer League [KFS 2808-08-2011]; Swiss National Science Foundation [32-153201] FX This work was supported by the Swiss Cancer League (KFS 2808-08-2011), the Swiss National Science Foundation (32-153201) and by institutional funds. We thank Valerie Cesson and Gregory LaSala (Dpt Urology, CHUV, Lausanne) for their technical help. NR 42 TC 1 Z9 1 U1 3 U2 3 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 1422-0067 J9 INT J MOL SCI JI Int. J. Mol. Sci. PD JUL PY 2016 VL 17 IS 7 AR UNSP 1125 DI 10.3390/ijms17071125 PG 10 WC Biochemistry & Molecular Biology; Chemistry, Multidisciplinary SC Biochemistry & Molecular Biology; Chemistry GA DT5DK UT WOS:000381500900138 ER PT J AU Han, Y Rand, KA Hazelett, DJ Ingles, SA Kittles, RA Strom, SS Rybicki, BA Nemesure, B Isaacs, WB Stanford, JL Zheng, W Schumacher, FR Berndt, SI Wang, ZM Xu, JF Rohland, N Reich, D Tandon, A Pasaniuc, B Allen, A Quinque, D Mallick, S Notani, D Rosenfeld, MG Jayani, RS Kolb, S Gapstur, SM Stevens, VL Pettaway, CA Yeboah, ED Tettey, Y Biritwum, RB Adjei, AA Tay, E Truelove, A Niwa, S Chokkalingam, AP John, EM Murphy, AB Signorello, LB Carpten, J Leske, MC Wu, SY Hennis, AJM Neslund-Dudas, C Hsing, AW Chu, LS Goodman, PJ Klein, EA Zheng, SL Witte, JS Casey, G Lubwama, A Pooler, LC Sheng, X Coetzee, GA Cook, MB Chanock, SJ Stram, DO Watya, S Blot, WJ Conti, DV Henderson, BE Haiman, CA AF Han, Ying Rand, Kristin A. Hazelett, Dennis J. Ingles, Sue A. Kittles, Rick A. Strom, Sara S. Rybicki, Benjamin A. Nemesure, Barbara Isaacs, William B. Stanford, Janet L. Zheng, Wei Schumacher, Fredrick R. Berndt, Sonja I. Wang, Zhaoming Xu, Jianfeng Rohland, Nadin Reich, David Tandon, Arti Pasaniuc, Bogdan Allen, Alex Quinque, Dominique Mallick, Swapan Notani, Dimple Rosenfeld, Michael G. Jayani, Ranveer Singh Kolb, Suzanne Gapstur, Susan M. Stevens, Victoria L. Pettaway, Curtis A. Yeboah, Edward D. Tettey, Yao Biritwum, Richard B. Adjei, Andrew A. Tay, Evelyn Truelove, Ann Niwa, Shelley Chokkalingam, Anand P. John, Esther M. Murphy, Adam B. Signorello, Lisa B. Carpten, John Leske, M. Cristina Wu, Suh-Yuh Hennis, Anslem J. M. Neslund-Dudas, Christine Hsing, Ann W. Chu, Lisa Goodman, Phyllis J. Klein, Eric A. Zheng, S. Lilly Witte, John S. Casey, Graham Lubwama, Alex Pooler, Loreall C. Sheng, Xin Coetzee, Gerhard A. Cook, Michael B. Chanock, Stephen J. Stram, Daniel O. Watya, Stephen Blot, William J. Conti, David V. Henderson, Brian E. Haiman, Christopher A. TI Prostate Cancer Susceptibility in Men of African Ancestry at 8q24 SO JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE LA English DT Article ID GENOME-WIDE ASSOCIATION; LONG NONCODING RNA; RANGE INTERACTION; RISK; LOCI; JAPANESE; VARIANT; PCAT-1; MYC AB The 8q24 region harbors multiple risk variants for distinct cancers, including > 8 for prostate cancer. In this study, we conducted fine mapping of the 8q24 risk region (127.8-128.8 Mb) in search of novel associations with common and rare variation in 4853 prostate cancer case patients and 4678 control subjects of African ancestry. All statistical tests were two-sided. We identified three independent associations at P values of less than 5.00 x 10(-8), all of which were replicated in studies from Ghana and Uganda (combined sample = 5869 case patients, 5615 control subjects; rs114798100: risk allele frequency [RAF] = 0.04, per-allele odds ratio [OR] = 2.31, 95% confidence interval [CI] = 2.04 to 2.61, P = 2.38 x 10(-40); rs72725879: RAF = 0.33, OR = 1.37, 95% CI = 1.30 to 1.45, P = 3.04 x 10(-27); and rs111906932: RAF = 0.03, OR = 1.79, 95% CI = 1.53 to 2.08, P = 1.39 x 10(-13)). Risk variants rs114798100 and rs111906923 are only found in men of African ancestry, with rs111906923 representing a novel association signal. The three variants are located within or near a number of prostate cancer-associated long noncoding RNAs (lncRNAs), including PRNCR1, PCAT1, and PCAT2. These findings highlight ancestry-specific risk variation and implicate prostate-specific lncRNAs at the 8q24 prostate cancer susceptibility region. C1 [Han, Ying; Rand, Kristin A.; Hazelett, Dennis J.; Ingles, Sue A.; Schumacher, Fredrick R.; Casey, Graham; Pooler, Loreall C.; Sheng, Xin; Coetzee, Gerhard A.; Stram, Daniel O.; Conti, David V.; Henderson, Brian E.; Haiman, Christopher A.] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA. [Coetzee, Gerhard A.] Univ Southern Calif, Keck Sch Med, Dept Urol, Los Angeles, CA 90089 USA. [Ingles, Sue A.; Schumacher, Fredrick R.; Casey, Graham; Coetzee, Gerhard A.; Stram, Daniel O.; Conti, David V.; Henderson, Brian E.; Haiman, Christopher A.] Univ Southern Calif, Norris Comprehens Canc Ctr, Los Angeles, CA 90089 USA. [Kittles, Rick A.] Univ Arizona, Coll Med, Tucson, AZ 85724 USA. [Kittles, Rick A.] Univ Arizona, Ctr Canc, Tucson, AZ 85724 USA. [Strom, Sara S.] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA. [Pettaway, Curtis A.] Univ Texas MD Anderson Canc Ctr, Dept Urol, Houston, TX 77030 USA. [Rybicki, Benjamin A.] Henry Ford Hosp, Dept Publ Hlth Sci, Detroit, MI 48202 USA. [Neslund-Dudas, Christine] Henry Ford Hosp, Dept Publ Hlth Sci, Detroit, MI 48202 USA. [Nemesure, Barbara; Leske, M. Cristina; Wu, Suh-Yuh; Hennis, Anslem J. M.] SUNY Stony Brook, Dept Prevent Med, Stony Brook, NY 11794 USA. [Isaacs, William B.] Johns Hopkins Hosp & Med Inst, James Buchanan Brady Urol Inst, Baltimore, MD 21205 USA. [Stanford, Janet L.; Kolb, Suzanne] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA. [Goodman, Phyllis J.] Fred Hutchinson Canc Res Ctr, SWOG Stat Ctr, 1124 Columbia St, Seattle, WA 98104 USA. [Stanford, Janet L.] Univ Washington, Dept Epidemiol, Sch Publ Hlth, Seattle, WA 98195 USA. [Zheng, Wei; Blot, William J.] Vanderbilt Univ, Sch Med, Vanderbilt Epidemiol Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA. [Berndt, Sonja I.; Wang, Zhaoming; Cook, Michael B.; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Wang, Zhaoming] SAIC Frederick Inc, NCI DCEG, Canc Genom Res Lab, Frederick, MD 21702 USA. [Xu, Jianfeng] NorthShore Univ HealthSyst, Program Personalized Canc Care, Evanston, IL 60201 USA. [Xu, Jianfeng] NorthShore Univ HealthSyst, Dept Surg, Evanston, IL 60201 USA. [Rohland, Nadin; Reich, David; Tandon, Arti; Allen, Alex; Quinque, Dominique; Mallick, Swapan] Harvard Univ, Harvard Med Sch, Dept Genet, Boston, MA 02115 USA. [Reich, David; Mallick, Swapan] Harvard Univ, Harvard Med Sch, Howard Hughes Med Inst, Boston, MA 02115 USA. [Rohland, Nadin; Reich, David; Tandon, Arti; Allen, Alex; Quinque, Dominique; Mallick, Swapan] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA. [Pasaniuc, Bogdan] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA. [Pasaniuc, Bogdan] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA. [Notani, Dimple; Rosenfeld, Michael G.; Jayani, Ranveer Singh] Univ Calif San Diego, Sch Med, Dept Med, Howard Hughes Med Inst, San Diego, CA 92103 USA. [Gapstur, Susan M.; Stevens, Victoria L.] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA. [Yeboah, Edward D.; Tettey, Yao; Biritwum, Richard B.; Adjei, Andrew A.; Tay, Evelyn] Korle Bu Teaching Hosp, Accra, Ghana. [Yeboah, Edward D.; Tettey, Yao; Biritwum, Richard B.; Adjei, Andrew A.; Tay, Evelyn] Univ Ghana, Sch Med, Accra, Ghana. [Tandon, Arti; Niwa, Shelley] Westat Corp, Rockville, MD 20850 USA. [Chokkalingam, Anand P.] Univ Calif Berkeley, Sch Publ Hlth, Berkeley, CA 94720 USA. [John, Esther M.; Hsing, Ann W.; Chu, Lisa] Canc Prevent Inst Calif, Fremont, CA 94538 USA. [John, Esther M.; Hsing, Ann W.; Chu, Lisa] Stanford Univ, Sch Med, Palo Alto, CA 94304 USA. [John, Esther M.; Hsing, Ann W.; Chu, Lisa] Stanford Canc Inst, Palo Alto, CA 94304 USA. [Murphy, Adam B.] Northwestern Univ, Dept Urol, Chicago, IL 60611 USA. [Signorello, Lisa B.; Blot, William J.] Harvard Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. [Carpten, John] Translat Genom Res Inst, Phoenix, AZ 85004 USA. [Hennis, Anslem J. M.] Univ West Indies, Chron Dis Res Ctr, Bridgetown, Barbados. [Hennis, Anslem J. M.] Univ West Indies, Fac Med Sci, Bridgetown, Barbados. [Klein, Eric A.] Cleveland Clin, Glickman Urol & Kidney Inst, Cleveland, OH 44106 USA. [Zheng, S. Lilly] Wake Forest Sch Med, Ctr Canc Genom, Winston Salem, NC 27157 USA. [Witte, John S.] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA. [Witte, John S.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA. [Lubwama, Alex; Watya, Stephen] Makerere Univ, Coll Hlth Sci, Sch Publ Hlth, Kampala, Uganda. [Watya, Stephen] Uro Care, Kampala, Uganda. RP Haiman, CA (reprint author), Harlyne Norris Res Tower,1450 Biggy St,Room 1504, Los Angeles, CA 90033 USA. EM haiman@usc.edu RI Zheng, Wei/O-3351-2013; OI Zheng, Wei/0000-0003-1226-070X; Jayani, Ranveer Singh/0000-0002-7646-0711 FU National Institutes of Health (NIH) [CA63464, CA54281, CA1326792, CA148085, HG004726]; Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), NIH; Cancer Research Fund (University of California) [99-00524V-10258, 97-12013, 98-00924V]; Department of Health Services Cancer Research Program; NCI, NIH, Department of Health and Human Services [N01-PC-35139]; California Department of Health Services as part of the statewide cancer reporting program [103885]; Centers for Disease Control and Prevention [1U58DP0008073]; NIH [CA056678, CA082664, CA092579, ES011126, S06GM08016, CA092447]; Fred Hutchinson Cancer Research Center; Intramural Program of the National Human Genome Research Institute; Public Health Service Cooperative Agreement Grant from the NCI, NIH. [CA37429, 5UM1CA182883]; Department of Defense (DOD) [W81XWH-07-1-0122]; DOD [DAMD W81XWH-07-1-0203, DAMD W81XWH-06-1-0066, DOD W81XWH-10-1-0532]; Vanderbilt-Ingram Cancer Center [CA68485]; National Program of Cancer Registries (NPCR), Centers for Disease Control and Prevention (CDC); American Cancer Society; Margaret Kersten Ponty postdoctoral fellowship endowment; Achievement Rewards for College Scientists (ARCS) Foundation; Los Angeles Founder Chapter; NCI [CA165862]; [CA68578]; [ES007784]; [DAMD W81XWH-07-1-0645]; [CA140388]; [CA88164]; [CA127298] FX The Multiethnic Cohort Study (MEC) and the genotyping in this study were supported by National Institutes of Health (NIH) grants CA63464, CA54281, CA1326792, CA148085, and HG004726. Genotyping of the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO) samples was funded by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), NIH. The Los Angeles Study of Aggressive Prostate Cancer (LAAPC) was funded by grant 99-00524V-10258 from the Cancer Research Fund, under Interagency Agreement #97-12013 (University of California contract #98-00924V) with the Department of Health Services Cancer Research Program. Cancer incidence data for the MEC and LAAPC studies have been collected by the Los Angeles Cancer Surveillance Program of the University of Southern California with federal funds from the NCI, NIH, Department of Health and Human Services (under Contract No. N01-PC-35139), and the California Department of Health Services as part of the statewide cancer reporting program mandated by California Health and Safety Code Section 103885, and grant number 1U58DP0008073 from the Centers for Disease Control and Prevention. The King County (Washington) Prostate Cancer Study (KCPCS) was supported by NIH grants CA056678, CA082664, and CA092579, with additional support from the Fred Hutchinson Cancer Research Center and the Intramural Program of the National Human Genome Research Institute. The Prostate Cancer Case-Control Studies at MD Anderson (MDA) was supported by grants CA68578, ES007784, DAMD W81XWH-07-1-0645, and CA140388. The Prostate Cancer Genetics Study (CaP Genes) was supported by CA88164 and CA127298. The Selenium and Vitamin E Cancer Prevention Trial (SELECT) was funded by Public Health Service Cooperative Agreement Grant CA37429 and 5UM1CA182883 from the NCI, NIH. The Gene-Environment in Prostate Cancer Study (GECAP) was supported by NIH grant ES011126. The Identifying Prostate Cancer Genes study (IPCG) was supported by the Department of Defense (DOD) grant W81XWH-07-1-0122. The Case-Control Study of Prostate Cancer among African Americans in Washington, DC (DCPC) was supported by NIH grant S06GM08016 and DOD grants DAMD W81XWH-07-1-0203, DAMD W81XWH-06-1-0066, and DOD W81XWH-10-1-0532. The Southern Community Cohort Study (SCCS) was funded by NIH grant CA092447. SCCS sample preparation was conducted at the Epidemiology Biospecimen Core Lab, which is supported in part by the Vanderbilt-Ingram Cancer Center (CA68485). Data on SCCS cancer case patients used in this publication were provided by the Alabama Statewide Cancer Registry; Kentucky Cancer Registry; Tennessee Department of Health, Office of Cancer Surveillance; Florida Cancer Data System; North Carolina Central Cancer Registry, North Carolina Division of Public Health; Georgia Comprehensive Cancer Registry; Louisiana Tumor Registry; Mississippi Cancer Registry; South Carolina Central Cancer Registry; Virginia Department of Health, Virginia Cancer Registry; Arkansas Department of Health, Cancer Registry. The Arkansas Central Cancer Registry was fully funded by a grant from the National Program of Cancer Registries (NPCR), Centers for Disease Control and Prevention (CDC). Data on SCCS cancer case patients from Mississippi were collected by the Mississippi Cancer Registry, which participates in the NPCR of the CDC. The contents of this publication are solely the responsibility of the authors and do not necessarily represent the official views of the CDC or the Mississippi Cancer Registry.; The Cancer Prevention Study II Nutrition Cohort (CPC-II) was supported by the American Cancer Society. KAR was supported in part by the Margaret Kersten Ponty postdoctoral fellowship endowment, Achievement Rewards for College Scientists (ARCS) Foundation, Los Angeles Founder Chapter. Sequencing in this study was supported by NCI grant CA165862. NR 18 TC 4 Z9 4 U1 2 U2 2 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0027-8874 EI 1460-2105 J9 JNCI-J NATL CANCER I JI JNCI-J. Natl. Cancer Inst. PD JUL PY 2016 VL 108 IS 7 AR djv431 DI 10.1093/jnci/djv431 PG 5 WC Oncology SC Oncology GA DU9FT UT WOS:000382522500017 ER PT J AU Sabbatino, F Wang, YY Scognamiglio, G Favoino, E Feldman, SA Villani, V Flaherty, KT Nota, S Giannarelli, D Simeone, E Anniciello, AM Palmieri, G Pepe, S Botti, G Ascierto, PA Ferrone, CR Ferrone, S AF Sabbatino, Francesco Wang, Yangyang Scognamiglio, Giosue Favoino, Elvira Feldman, Steven A. Villani, Vincenzo Flaherty, Keith T. Nota, Sjoerd Giannarelli, Diana Simeone, Ester Anniciello, Anna M. Palmieri, Giuseppe Pepe, Stefano Botti, Gerardo Ascierto, Paolo A. Ferrone, Cristina R. Ferrone, Soldano TI Antitumor Activity of BRAF Inhibitor and IFN alpha Combination in BRAF-Mutant Melanoma SO JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE LA English DT Article ID CELLS-IN-VITRO; INTERFERON-ALPHA; METASTATIC MELANOMA; HUMAN-LEUKOCYTE; PRIMARY TUMORS; UP-REGULATION; OPEN-LABEL; EXPRESSION; ANTIGEN; RECEPTOR AB Background: BRAF(V600E)-mediated MAPK pathway activation is associated in melanoma cells with IFNAR1 downregulation. IFNAR1 regulates melanoma cell sensitivity to IFN alpha, a cytokine used for the adjuvant treatment of melanoma. These findings and the limited therapeutic efficacy of BRAF-I prompted us to examine whether the efficacy of IFN alpha therapy of BRAF(V600E) melanoma can be increased by its combination with BRAF-I. Methods: BRAF/NRAS genotype, ERK activation, IFNAR1, and HLA class I expression were tested in 60 primary melanoma tumors from treatment-naive patients. The effect of BRAF-I on IFNAR1 expression was assessed in three melanoma cell lines and in four biopsies of BRAF(V600E) metastases. The antiproliferative, pro-apoptotic and immunomodulatory activity of BRAF-I and IFN alpha combination was tested in vitro and in vivo utilizing three melanoma cell lines, HLA class I-MA peptide complex-specific T-cells and immunodeficient mice (5 per group for survival and 10 per group for tumor growth inhibition). All statistical tests were two-sided. Differences were considered statistically significant when the P value was less than .05. Results: The IFNAR1 level was statistically significantly (P < .001) lower in BRAF(V600E) primary melanoma tumors than in BRAF wild-type tumors. IFNAR1 downregulation was reversed by BRAF-I treatment in the three melanoma cell lines (P <= .02) and in three out of four metastases. The IFNAR1 level in the melanoma tumors analyzed was increased as early as 10 to 14 days following the beginning of the treatment. These changes were associated with: 1) an increased susceptibility in vitro of melanoma cells to the antiproliferative (P <= .04), pro-apoptotic (P <= .009) and immunomodulatory activity, including upregulation of HLA class I antigen APM component (P <= .04) and MA expression as well as recognition by cognate T-cells (P < .001), of BRAF-I and IFN alpha combination and 2) an increased survival (P < .001) and inhibition of tumor growth of melanoma cells (P < .001) in vivo by BRAF-I and IFN alpha combination. Conclusions: The described results provide a strong rationale for the clinical trials implemented in BRAFV600E melanoma patients with BRAF-I and IFN alpha combination. C1 [Sabbatino, Francesco; Wang, Yangyang; Favoino, Elvira; Villani, Vincenzo; Ferrone, Cristina R.; Ferrone, Soldano] Harvard Med Sch, Massachusetts Gen Hosp, Dept Surg, 55 Fruit St, Boston, MA 02114 USA. [Flaherty, Keith T.] Harvard Med Sch, Massachusetts Gen Hosp, Dept Med Oncol, Boston, MA 02114 USA. [Nota, Sjoerd; Ferrone, Soldano] Harvard Med Sch, Massachusetts Gen Hosp, Dept Orthopaed Surg, Boston, MA 02114 USA. [Scognamiglio, Giosue; Anniciello, Anna M.; Botti, Gerardo] Fdn G Pascale, Ist Nazl Tumori, Unit Pathol, Naples, Italy. [Simeone, Ester; Ascierto, Paolo A.] Fdn G Pascale, Ist Nazl Tumori, Unit Melanoma Canc Immunotherapy & Innovat Therap, Naples, Italy. [Feldman, Steven A.] NCI, Surg Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Giannarelli, Diana] Regina Elena Inst Canc Res, Biostat Unit, Rome, Italy. [Palmieri, Giuseppe] CNR, Inst Biomol Chem, Unit Canc Genet, Sassari, Italy. [Sabbatino, Francesco; Pepe, Stefano] Univ Salerno, Dept Med & Surg, Salerno, Italy. [Favoino, Elvira] IRCCS Saverio de Bellis, Natl Inst Digest Dis, Lab Cellular & Mol Biol, Castellana Grotte, BA, Italy. RP Ferrone, S (reprint author), Harvard Med Sch, Massachusetts Gen Hosp, Dept Surg, 55 Fruit St, Boston, MA 02114 USA. EM sferrone@mgh.harvard.edu OI Palmieri, Giuseppe/0000-0002-4350-2276 FU National Cancer Institute (PHS grants) [RO1CA138188, P50CA121973]; Fondazione Umberto Veronesi; Susan G. Komen for the Cure Foundation [KG111486]; Centro per la Comunicazione e la Ricerca of the Collegio Ghislieri of Pavia FX This study was supported by the National Cancer Institute (PHS grants RO1CA138188 and P50CA121973 to SF), by Fondazione Umberto Veronesi (Fondazione Umberto Veronesi Post Doctoral Fellowship by FS), by the Susan G. Komen for the Cure Foundation (Susan Komen Post Doctoral Fellowship KG111486 by YW), and by Centro per la Comunicazione e la Ricerca of the Collegio Ghislieri of Pavia (Research Fellowship by VV). NR 38 TC 3 Z9 3 U1 5 U2 5 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0027-8874 EI 1460-2105 J9 JNCI-J NATL CANCER I JI JNCI-J. Natl. Cancer Inst. PD JUL PY 2016 VL 108 IS 7 AR djv435 DI 10.1093/jnci/djv435 PG 11 WC Oncology SC Oncology GA DU9FT UT WOS:000382522500008 ER PT J AU Villalona-Calero, MA Duan, WR Zhao, WQ Shilo, K Schaaf, LJ Thurmond, J Westman, JA Marshall, J Li, XB Ji, JP Rose, J Lustberg, M Bekaii-Saab, T Chen, A Timmers, C AF Villalona-Calero, Miguel A. Duan, Wenrui Zhao, Weiqiang Shilo, Konstantin Schaaf, Larry J. Thurmond, Jennifer Westman, Judith A. Marshall, John Li Xiaobai Ji, Jiuping Rose, Jeffrey Lustberg, Maryam Bekaii-Saab, Tanios Chen, Alice Timmers, Cynthia TI Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair SO JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE LA English DT Article ID FANCONI-ANEMIA SUBTYPE; POLY(ADP-RIBOSE) POLYMERASE; DNA-REPAIR; OVARIAN-CANCER; BIALLELIC MUTATIONS; SOMATIC MUTATIONS; BRCA1 DEFICIENCY; LUNG-CANCER; PATHWAY; RESISTANCE AB Background: BRCA germline mutations are being targeted for development of PARP inhibitors. BRCA genes collaborate with several others in the Fanconi Anemia (FA) pathway. We screened cancer patients' tumors for FA functional defects then aimed to establish the safety/feasibility of administering PARP inhibitors as monotherapy and combined with a DNA-breaking agent. Methods: Patients underwent FA functional screening for the presence (or lack) of tumor FancD2 nuclear foci formation on their archival tumor material, utilizing a newly developed method (Fanconi Anemia triple-stain immunofluorescence [FATSI]), performed in a Clinical Laboratory Improvement Amendments-certified laboratory. FATSI-negative patients were selected for enrollment in a two-arm dose escalation trial of veliparib, or veliparib/mitomycin-C (MMC). Results: One hundred eighty-five of 643 (28.7%) screened patients were FATSI-negative. Sixty-one received veliparib or veliparib/MMC through 14 dose levels. Moderate/severe toxicities included fatigue (DLT at veliparib 400 mg BID), diarrhea, and thrombocytopenia. Recommended doses are 300 mg BID veliparib and veliparib 200 mg BID for 21 days following 10 mg/m(2) MMC every 28 days. Six antitumor responses occurred, five in the combination arm (3 breast, 1 ovarian, 1 endometrial [uterine], and 1 non-small cell lung cancer). Two patients have received 36 and 60 cycles to date. BRCA germline analysis among 51 patients revealed five deleterious mutations while a targeted FA sequencing gene panel showed missense/nonsense mutations in 29 of 49 FATSI-negative tumor specimens. Conclusions: FATSI screening showed that a substantial number of patients' tumors have FA functional deficiency, which led to germline alterations in several patients' tumors. Veliparib alone or with MMC was safely administered to these patients and produced clinical benefit in some. However, a better understanding of resistance mechanisms in this setting is needed. C1 [Villalona-Calero, Miguel A.; Duan, Wenrui; Rose, Jeffrey; Lustberg, Maryam; Bekaii-Saab, Tanios] Ohio State Univ, Div Med Oncol, Columbus, OH 43210 USA. [Westman, Judith A.] Ohio State Univ, Clin Canc Genet, Columbus, OH 43210 USA. [Zhao, Weiqiang; Shilo, Konstantin] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA. [Villalona-Calero, Miguel A.; Duan, Wenrui; Schaaf, Larry J.; Thurmond, Jennifer; Bekaii-Saab, Tanios; Timmers, Cynthia] Ohio State Univ, Ctr Comprehens Canc, Columbus, OH 43210 USA. [Li Xiaobai] Ohio State Univ, Ctr Biostat, Columbus, OH 43210 USA. [Marshall, John] Georgetown Univ, Lombardi Canc Ctr, Washington, DC 20007 USA. [Ji, Jiuping; Chen, Alice] NCI, Bethesda, MD 20892 USA. RP Villalona-Calero, MA (reprint author), Miami Canc Inst, 1575 San Ignacio Ave,Suite 100, Coral Gables, FL 33146 USA. EM miguelvil@BaptistHealth.net OI S, K/0000-0002-6702-3130 FU National Institutes of Health (NIH) [R01-CA152101, N01-CM-2011-00070(HHSN261201100070C), OSUCCC P30 CA016058-38] FX This work was supported by National Institutes of Health (NIH) grantsR01-CA152101, N01-CM-2011-00070(HHSN261201100070C) to MAV, and OSUCCC P30 CA016058-38. NR 58 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0027-8874 EI 1460-2105 J9 JNCI-J NATL CANCER I JI JNCI-J. Natl. Cancer Inst. PD JUL PY 2016 VL 108 IS 7 AR djv437 DI 10.1093/jnci/djv437 PG 10 WC Oncology SC Oncology GA DU9FT UT WOS:000382522500011 ER PT J AU Tisnado, D Malin, J Kahn, K Landrum, MB Fletcher, R Klabunde, C Clauser, S Rogers, SO Keating, NL AF Tisnado, Diana Malin, Jennifer Kahn, Katherine Landrum, Mary Beth Fletcher, Robert Klabunde, Carrie Clauser, Steven Rogers, Selwyn O., Jr. Keating, Nancy L. TI Variations in Oncologist Recommendations for Chemotherapy for Stage IV Lung Cancer: What Is the Role of Performance Status? SO JOURNAL OF ONCOLOGY PRACTICE LA English DT Article ID EARLY PALLIATIVE CARE; SUPPORTIVE CARE; THERAPEUTIC APPROACH; CLINICAL ONCOLOGY; AMERICAN SOCIETY; OF-LIFE; OUTCOMES; QUALITY; TRIALS; METAANALYSIS AB Purpose:Chemotherapy prolongs survival in patients with advanced non-small-cell lung cancer. However, few studies have included patients with poor performance status. This study examined rates of oncologists' recommendations for chemotherapy by patient performance status and symptoms and how physician characteristics influence chemotherapy recommendations.Methods:We surveyed medical oncologists involved in the care of a population-based cohort of patients with lung cancer from the CanCORS (Cancer Care Outcomes Research and Surveillance) study. Physicians were queried about their likelihood to recommend chemotherapy to patients with stage IV lung cancer with varying performance status (Eastern Cooperative Oncology Group performance status 0 [good] v 3 [poor]) and presence or absence of tumor-related pain. Repeated measures logistic regression was used to estimate the independent associations of patients' performance status and symptoms and physicians' demographic and practice characteristics with chemotherapy recommendations.Results:Nearly all physicians (adjusted rate, 97% to 99%) recommended chemotherapy for patients with good performance status, and approximately half (adjusted rate, 38% to 53%) recommended chemotherapy for patients with poor performance status (P < .001). Compared with patient factors, physician and practice characteristics were less strongly associated with chemotherapy recommendations in adjusted analyses.Conclusion:Strong consensus among oncologists exists for chemotherapy in patients with advanced non-small-cell lung cancer and good performance status. However, the relatively high rate of chemotherapy recommendations for patients with poor performance status despite the unfavorable risk-benefit profile highlights the need for ongoing work to define high-value care in oncology and to implement and evaluate strategies to align incentives for such care. C1 [Tisnado, Diana] Calif State Univ Fullerton, 800 N State Coll Blvd,Rm KHS 142, Fullerton, CA 92834 USA. Anthem, Woodland Hills, CA USA. Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA. RAND Corp, Santa Monica, CA USA. Harvard Med Sch, Boston, MA USA. Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. NCI, Bethesda, MD 20892 USA. Patient Ctr Outcomes Res Inst, Washington, DC USA. Univ Texas Med Branch Hlth, Galveston, TX USA. RP Tisnado, D (reprint author), Calif State Univ Fullerton, 800 N State Coll Blvd,Rm KHS 142, Fullerton, CA 92834 USA. EM dtisnado@fullerton.edu FU NCI NIH HHS [K24 CA181510, U01 CA093324, U01 CA093326, U01 CA093329, U01 CA093332, U01 CA093339, U01 CA093344, U01 CA093348]; NIA NIH HHS [P30 AG021684] NR 40 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC CLINICAL ONCOLOGY PI ALEXANDRIA PA 2318 MILL ROAD, STE 800, ALEXANDRIA, VA 22314 USA SN 1554-7477 EI 1935-469X J9 J ONCOL PRACT JI J. Oncol. Pract. PD JUL PY 2016 VL 12 IS 7 BP 651 EP + DI 10.1200/JOP.2015.008425 PG 14 WC Health Care Sciences & Services SC Health Care Sciences & Services GA DT3JL UT WOS:000381376900015 PM 27271507 ER PT J AU Fragoso, CAV McAvay, G Van Ness, PH Metter, EJ Ferrucci, L Yaggi, HK Concato, J Gill, TM AF Fragoso, Carlos A. Vaz McAvay, Gail Van Ness, Peter H. Metter, E. Jeffrey Ferrucci, Luigi Yaggi, H. Klar Concato, John Gill, Thomas M. TI Aging-Related Considerations When Evaluating the Forced Expiratory Volume in 1 Second (FEV1) Over Time SO JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES LA English DT Article DE Aging; Spirometry; Lung diseases; Cardiovascular diseases; Epidemiology ID LUNG-FUNCTION; RESPIRATORY IMPAIRMENT; NATURAL-HISTORY; OLDER PERSONS; SPIROMETRY; DISEASE; PREVALENCE; VALUES AB Background: Forced expiratory volume in 1 second (FEV1) over time is commonly expressed in liters and percent predicted (%Pred), or alternatively in L/m(3) and Z-scores. which approach is more clinically meaningful has not been evaluated. Because it uniquely accounts for the effect of aging on FEV1 and spirometric performance, we hypothesized that the Z-score approach is more clinically meaningful, based on associations between cardiopulmonary predictors and FEV1 over time. Methods: Using linear mixed-effects models and data from the Baltimore Longitudinal Study on Aging, including 501 white participants aged 40-95 who had completed at least three longitudinal spirometric assessments, we evaluated the associations between cardiopulmonary predictors (obesity, smoking status, hypertension, chronic bronchitis, diabetes mellitus, and myocardial infarction) and FEV1 over time, in liters, %Pred, L/m(3), and Z-scores. Results: Mean baseline values for FEV1 were 3.240 L, 96.4% Pred, 0.621 L/m(3), and -0.239 as a Z-score (40.6th percentile). The annual decline in FEV1 was 0.040 L, 0.234 %Pred, 0.007 L/m(3), and 0.008 Z-score units. Baseline age was associated with FEV1 over time in liters and L/m(3) (p < .001), and included a time interaction for %Pred (p < .001), but was not associated with Z-scores (p = .933). The associations of cardiopulmonary predictors with FEV1 over time were all significant when using Z-scores (p < <.05.05), but varied for other methods of expressing FEV1. Conclusion: A Z-score approach is more clinically meaningful when evaluating FEV1 over time, as it accounted for the effect of aging and was more frequently associated with multiple cardiopulmonary predictors. C1 [Fragoso, Carlos A. Vaz; Yaggi, H. Klar; Concato, John] Vet Affairs Clin Epidemiol Res Ctr, West Haven, CT USA. [Fragoso, Carlos A. Vaz; McAvay, Gail; Van Ness, Peter H.; Yaggi, H. Klar; Concato, John; Gill, Thomas M.] Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06510 USA. [Metter, E. Jeffrey] Univ Tennessee, Ctr Hlth Sci, Dept Neurol, Memphis, TN 38163 USA. [Ferrucci, Luigi] NIA, Harbor Hosp, Baltimore, MD 21224 USA. RP Fragoso, CAV (reprint author), VA Connecticut Healthcare Syst, 950 Campbell Ave, West Haven, CT 06516 USA. EM carlos.fragoso@yale.edu FU Yale Claude D. Pepper Older Americans Independence Center [P30AG021342]; VA Merit Award; VA Cooperative Studies Program; NIA Academic Leadership Award [K07AG043587] FX The analytical phase of this study was conducted at the Yale Claude D. Pepper Older Americans Independence Center (P30AG021342). C.A.V.F. is supported by a VA Merit Award. J.C. is supported by the VA Cooperative Studies Program. T.M.G is the recipient of an NIA Academic Leadership Award (K07AG043587). NR 30 TC 2 Z9 2 U1 2 U2 2 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1079-5006 EI 1758-535X J9 J GERONTOL A-BIOL JI J. Gerontol. Ser. A-Biol. Sci. Med. Sci. PD JUL PY 2016 VL 71 IS 7 BP 929 EP 934 DI 10.1093/gerona/glv201 PG 6 WC Geriatrics & Gerontology; Gerontology SC Geriatrics & Gerontology GA DT0YW UT WOS:000381209900012 ER PT J AU Schrack, JA Zipunnikov, V Simonsick, EM Studenski, S Ferrucci, L AF Schrack, Jennifer A. Zipunnikov, Vadim Simonsick, Eleanor M. Studenski, Stephanie Ferrucci, Luigi TI Rising Energetic Cost of Walking Predicts Gait Speed Decline With Aging SO JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES LA English DT Article DE Functional performance; Gait; Metabolism; Physical function; Physiology ID LOWER-EXTREMITY FUNCTION; RESTING METABOLIC-RATE; OLDER-ADULTS; SUBSEQUENT DISABILITY; WOMEN; AGE; EXPENDITURE; TREADMILL; HEALTH; PACE AB Background: Slow gait is a robust biomarker of health and a predictor of functional decline and death in older adults, yet factors contributing to the decline in gait speed with aging are not well understood. Previous research suggests that the energetic cost of walking at preferred speed is inversely associated with gait speed, but whether individuals with a rising energetic cost of walking experience a steeper rate of gait speed decline has not been investigated. Methods: In participants of the Baltimore Longitudinal Study of Aging, the energetic cost of overground walking at preferred speed (mL/kg/m) was assessed between 2007 and 2014 using a portable indirect calorimeter. The longitudinal association between the energetic cost of walking and usual gait speed over 6 meters (m/s) was assessed with multivariate linear regression models, and the risk of slow gait (<1.0 m/s) was analyzed using Cox proportional hazards models. Results: The study population consisted of 457 participants aged 40 and older who contributed 1,121 person-visits to the analysis. In fully adjusted models, increases in the energetic cost of walking predicted the rate of gait speed decline in those older than 65 years (beta = -0.008 m/s, p < .001). Moreover, those with a higher energetic cost of walking (>0.17 mL/kg/m) had a 57% greater risk of developing slow gait compared with a normal energetic cost of walking (<= 0.17 mL/kg/m; adjusted hazard ratio = 1.57, 95% confidence interval: 1.01-2.46). Conclusions: These findings suggest that strategies to maintain walking efficiency hold significant implications for maintaining mobility in late life. Efforts to curb threats to walking efficiency should focus on therapies to treat gait and balance impairments, and reduce clinical disease burden. C1 [Schrack, Jennifer A.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, 615 North Wolfe St,E7144, Baltimore, MD 21205 USA. [Schrack, Jennifer A.; Simonsick, Eleanor M.; Studenski, Stephanie; Ferrucci, Luigi] NIA, Longitudinal Studies Sect, Translat Gerontol Branch, NIH, Baltimore, MD 21224 USA. [Zipunnikov, Vadim] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD USA. RP Schrack, JA (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, 615 North Wolfe St,E7144, Baltimore, MD 21205 USA. EM jschrac1@jhu.edu FU Intramural Research Program of the NIH, National Institute on Aging; [K01AG048765]; [HHSN311210300177P] FX This research was supported by the Intramural Research Program of the NIH, National Institute on Aging. J.A.S was supported by K01AG048765 and HHSN311210300177P. NR 36 TC 2 Z9 2 U1 5 U2 5 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1079-5006 EI 1758-535X J9 J GERONTOL A-BIOL JI J. Gerontol. Ser. A-Biol. Sci. Med. Sci. PD JUL PY 2016 VL 71 IS 7 BP 947 EP 953 DI 10.1093/gerona/glw002 PG 7 WC Geriatrics & Gerontology; Gerontology SC Geriatrics & Gerontology GA DT0YW UT WOS:000381209900015 PM 26850913 ER PT J AU Simonsick, EM Chia, CW Mammen, JS Egan, JM Ferrucci, L AF Simonsick, Eleanor M. Chia, Chee W. Mammen, Jennifer S. Egan, Josephine M. Ferrucci, Luigi TI Free Thyroxine and Functional Mobility, Fitness, and Fatigue in Euthyroid Older Men and Women in the Baltimore Longitudinal Study of Aging SO JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES LA English DT Article DE Free thyroxine; Physical function; Aging; Fitness; Fatigue ID THYROID-FUNCTION; SUBCLINICAL HYPOTHYROIDISM; COGNITIVE FUNCTION; PHYSICAL FUNCTION; METABOLIC-RATE; ADULTS; AGE; HEALTH; POPULATION; MORTALITY AB Background: Emerging evidence suggests that mildly down-regulated thyroid function in older persons may protect and/or reflect maintained health. Methods: Using observational data collected between January 2006 and March 2014 on a volunteer sample of 602 men and women aged 68-97 years with normal thyroid function participating in the Baltimore Longitudinal Study of Aging, this study examines the concurrent relationship between reported walking ability, usual and rapid gait speed, endurance walk performance, fatigability, and reported energy level with respect to free thyroxine (FT4) within the normal range (0.76-1.50 ng/dL) as a continuous variable and categorized as low (lower quartile), medium (interquartile), or high (upper quartile). Results: Adjusting for sex, age, race, height, weight, exercise and smoking, reported walking ability, usual and rapid gait speed, 400-m time, fatigability, and reported energy level were less favorable with increasing FT4 (p =.013 to <. 001). In sex-strata, similar associations were observed except for walking ability in men and energy level in women. Categorical analyses revealed that persons with low FT4 exhibited better functional mobility, fitness, and reported energy than persons with intermediate or high levels (p < .05 for all). Persons with high-normal versus medium FT4 had slower usual and rapid gait speed (p < .05) only. Conclusion: Older adults with low-normal FT4 exhibit better mobility, fitness, and fatigue profiles. Mildly down-regulated thyroid function appears to align with better function in old age and may serve as a biomarker of healthy longevity. C1 [Simonsick, Eleanor M.; Chia, Chee W.; Egan, Josephine M.; Ferrucci, Luigi] NIA, Intramural Res Program, Baltimore, MD 21224 USA. [Simonsick, Eleanor M.; Chia, Chee W.; Mammen, Jennifer S.; Egan, Josephine M.; Ferrucci, Luigi] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. RP Simonsick, EM (reprint author), 3001 S Hanover St,5th Floor, Baltimore, MD 21224 USA. EM simonsickel@mail.nih.gov FU Intramural Research Program of the National Institute on Aging, National Institutes of Health FX This research was supported by the Intramural Research Program of the National Institute on Aging, National Institutes of Health. NR 33 TC 4 Z9 4 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1079-5006 EI 1758-535X J9 J GERONTOL A-BIOL JI J. Gerontol. Ser. A-Biol. Sci. Med. Sci. PD JUL PY 2016 VL 71 IS 7 BP 961 EP 967 DI 10.1093/gerona/glv226 PG 7 WC Geriatrics & Gerontology; Gerontology SC Geriatrics & Gerontology GA DT0YW UT WOS:000381209900017 PM 26791089 ER PT J AU Rosario, BL Rosso, AL Aizenstein, HJ Harris, T Newman, AB Satterfield, S Studenski, SA Yaffe, K Rosano, C AF Rosario, Bedda L. Rosso, Andrea L. Aizenstein, Howard J. Harris, Tamara Newman, Anne B. Satterfield, Suzanne Studenski, Stephanie A. Yaffe, Kristine Rosano, Caterina CA Hlth ABC Study TI Cerebral White Matter and Slow Gait: Contribution of Hyperintensities and Normal-appearing Parenchyma SO JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES LA English DT Article DE White matter hyperintensities; Fractional anisotropy; Normal-appearing white matter; DTI; Gait speed ID OLDER-PEOPLE; FALL RISK; ADULTS; BRAIN; SPEED; DISORDERS; INTEGRITY AB Background. White matter hyperintensities (WMH), a common marker of cerebral small vessel disease, and lower microstructural integrity of normal-appearing white matter are associated with slower gait. How these cerebral measures interact in relation to slower gait is unknown. We assessed whether microstructural integrity of normal-appearing white matter, measured by fractional anisotropy (FA), moderates the association of higher WMH with slower gait. Methods. WMH, FA, and gait speed were acquired for 265 community-dwelling older adults (average age = 82.9 years). Results. The inverse association between WMH and gait was robust to adjustment for age, gender, muscle strength, obesity, stroke, and hypertension (fully adjusted model: beta(s) = -0.19, p = .001). The interaction between WMH and FA was significant; analyses stratified by FA showed that the inverse association between WMH and gait speed was significant only for those with low FA (FA < median, fully adjusted model: beta(s) = -0.28, p = .001). Voxel-based results were similar for participants with FA less than median, there was an inverse association between gait speed and WMH which extended throughout the white matter (genu and body of corpus callosum, anterior limb of internal capsule, corona radiata, and superior longitudinal and fronto-occipital fasciculus). In contrast, for participants with FA = median, the association was limited to the genu of corpus callosum, the cingulum, and the inferior longitudinal fasciculus. Conclusions. Microstructural integrity is a moderating factor in the association between WMH and gait. Future studies should examine whether higher microstructural integrity represents a source of compensation in those with greater WMH burden to maintain function in late life. C1 [Rosario, Bedda L.; Rosso, Andrea L.; Newman, Anne B.; Rosano, Caterina] Univ Pittsburgh, Dept Epidemiol, 130 DeSoto St,127 Parran Hall, Pittsburgh, PA 15261 USA. [Aizenstein, Howard J.] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA. [Harris, Tamara] NIH, Lab Epidemiol Demog & Biometry, Bldg 10, Bethesda, MD 20892 USA. [Satterfield, Suzanne] Univ Tennessee, Ctr Hlth Sci, Dept Prevent Med, Memphis, TN 38163 USA. [Studenski, Stephanie A.] NIH, Longitudinal Studies Sect, Bldg 10, Bethesda, MD 20892 USA. [Yaffe, Kristine] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA. RP Rosario, BL (reprint author), Univ Pittsburgh, Dept Epidemiol, 130 DeSoto St,127 Parran Hall, Pittsburgh, PA 15261 USA. EM blr5@pitt.edu FU National Institute on Aging (NIA) NIA [N01-AG-6-2101, N01-AG-6-2103, N01-AG-6-2106, R01-AG-028050]; National Institute on Aging (NIA) NINR [R01-NR-012459]; Intramural Research Program of the NIA [K23-AG-028966, R01-AG-029232]; University of Pittsburgh Claude D. Pepper Older Americans Independence Center [P30-AG-024827-07]; NIA [T32-AG-000181] FX Health ABC was supported by the National Institute on Aging (NIA) Contracts (N01-AG-6-2101, N01-AG-6-2103, N01-AG-6-2106, NIA grant R01-AG-028050, and NINR grant R01-NR-012459). This research was supported in part by the Intramural Research Program of the NIA (K23-AG-028966 and R01-AG-029232), the University of Pittsburgh Claude D. Pepper Older Americans Independence Center (P30-AG-024827-07), and a training grant from the NIA (T32-AG-000181). NR 31 TC 0 Z9 0 U1 2 U2 3 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1079-5006 EI 1758-535X J9 J GERONTOL A-BIOL JI J. Gerontol. Ser. A-Biol. Sci. Med. Sci. PD JUL PY 2016 VL 71 IS 7 BP 968 EP 973 DI 10.1093/gerona/glv224 PG 6 WC Geriatrics & Gerontology; Gerontology SC Geriatrics & Gerontology GA DT0YW UT WOS:000381209900018 PM 26755683 ER PT J AU Hong, SG Lin, YS Dunbar, CE Zou, JZ AF Hong, So Gun Lin, Yongshun Dunbar, Cynthia E. Zou, Jizhong TI The Role of Nonhuman Primate Animal Models in the Clinical Development of Pluripotent Stem Cell Therapies SO MOLECULAR THERAPY LA English DT News Item ID REGENERATIVE MEDICINE; TRANSPLANTATION C1 [Hong, So Gun; Dunbar, Cynthia E.] NHLBI, Hematol Branch, NIH, 10 Ctr Dr,Bldg 10 CRC,Room 4E-5132, Bethesda, MD 20892 USA. [Lin, Yongshun; Zou, Jizhong] NHLBI, iPSC iore, Ctr Mol Med, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Dunbar, CE (reprint author), NHLBI, Hematol Branch, NIH, 10 Ctr Dr,Bldg 10 CRC,Room 4E-5132, Bethesda, MD 20892 USA. EM dunbarc@nhlbi.nih.gov NR 23 TC 0 Z9 0 U1 5 U2 5 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1525-0016 EI 1525-0024 J9 MOL THER JI Mol. Ther. PD JUL PY 2016 VL 24 IS 7 BP 1165 EP 1169 DI 10.1038/mt.2016.131 PG 5 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medicine, Research & Experimental SC Biotechnology & Applied Microbiology; Genetics & Heredity; Research & Experimental Medicine GA DT3YY UT WOS:000381418300002 PM 27506376 ER PT J AU Wright, JT Tampi, MP Graham, L Estrich, C Crall, JJ Fontana, M Gillette, EJ Novy, BB Dhar, V Donly, K Hewlett, ER Quinonez, RB Chaffin, J Crespin, M Iafolla, T Siegal, MD Carrasco-Labra, A AF Wright, John T. Tampi, Malavika P. Graham, Laurel Estrich, Cameron Crall, James J. Fontana, Margherita Gillette, E. Jane Novy, Brian B. Dhar, Vineet Donly, Kevin Hewlett, Edmond R. Quinonez, Rocio B. Chaffin, Jeffrey Crespin, Matt Iafolla, Timothy Siegal, Mark D. Carrasco-Labra, Alonso TI Sealants for Preventing and Arresting Pit-and-fissure Occlusal Caries in Primary and Permanent Molars A systematic review of randomized controlled trials-a report of the American Academy of Pediatric Dentistry and the American Dental Association SO PEDIATRIC DENTISTRY LA English DT Review DE GLASS IONOMER SEALANTS; RESIN-BASED SEALANTS; CARIES PREVENTION; CARIES ARREST; PIT-AND-FISSURE SEALANTS; SYSTEMATIC REVIEW ID GLASS-IONOMER; CLINICAL-EVALUATION; FLUORIDE VARNISH; RESIN SEALANT; LOW-RISK; RETENTION AB Background: National Health and Nutrition Examination Survey 2011-2012 data indicated that, in the United States, nearly one-fourth of children and over one-half of adolescents experienced dental caries in their permanent teeth. The purpose of this review was to summarize the available clinical evidence regarding the effect of dental sealants for the prevention and management of pit-and-fissure occlusal carious lesions in primary and permanent molars, compared with a control without sealants, with fluoride varnishes, or with other head-to head comparisons. Type of Studies Reviewed: The authors included parallel and split-mouth randomized controlled trials that included at least 2 years of follow-up, which they identified using MEDLINE (via PubMed), Embase, LILACS, the Cochrane Central Register of Controlled Trials, and registers of ongoing trials. Pairs of reviewers independently conducted the selection of studies, data extraction, risk of bias assessments, and quality of the evidence assessments by using the Grading of Recommendations Assessment, Development and Evaluation approach. Results: Of 2,869 records screened, the authors determined that 24 articles (representing 23 studies) proved eligible. Moderate-quality evidence suggested that participants who received sealants had a reduced risk of developing carious lesions in occlusal surfaces of permanent molars compared with those who did not receive sealants (odds ratio [OR], 0.15; 95% confidence interval [Cl] 0.08-027) after 7 or more years of follow-up. When the authors compared studies whose investigators had compared sealants with fluoride varnishes, they found that sealants reduced the incidence of carious lesions after 7 or more years of follow-up (OR, 0.19; 95% Cl, 0.07-0.51); however, this finding was supported by low-quality evidence. On the basis of the evidence, the authors could not provide a hierarchy of effectiveness among the studies whose investigators had conducted head-to-head comparisons. The investigators of 2 trials provided information about adverse events, but they did not report any adverse events. Conclusions and Practical Implications: Available evidence suggests that sealants are effective and safe to prevent or arrest the progression of noncavitated carious lesions compared with a control without sealants or fluoride varnishes. Further research is needed to provide information about the relative merits of the different types of sealant materials. C1 [Wright, John T.] Univ N Carolina, Sch Dent, Dept Pediat Dent, Chapel Hill, NC USA. [Tampi, Malavika P.] Amer Dent Assoc, Inst Sci, Ctr Evidence Based Dent, Chicago, IL 60611 USA. [Graham, Laurel] Amer Acad Pediat Dent, Chicago, IL USA. [Estrich, Cameron] Amer Dent Assoc, Inst Sci, Sci Informat, Chicago, IL USA. [Crall, James J.] Univ Calif Los Angeles, Sch Dent, Div Publ Hlth & Community Dent, Los Angeles, CA 90024 USA. [Fontana, Margherita] Univ Michigan, Sch Dent, Dept Cariol Restorat Sci & Endodont, Ann Arbor, MI 48109 USA. [Gillette, E. Jane] Univ Washington, Sch Dent, Seattle, WA 98195 USA. [Novy, Brian B.] DentaQuest Inst, Westborough, MA USA. [Dhar, Vineet] Univ Maryland, Sch Dent, Div Pediat Dent, Baltimore, MD 21201 USA. [Donly, Kevin] Univ Texas San Antonio, Hlth Sci Ctr, Dept Dev Dent, Sch Dent, San Antonio, TX USA. [Hewlett, Edmond R.] Univ Calif Los Angeles, Sch Dent, Sect Restorat Dent, Los Angeles, CA 90024 USA. [Quinonez, Rocio B.] Univ N Carolina, Dept Pediat Dent & Pediat, Sch Dent, Chapel Hill, NC USA. [Chaffin, Jeffrey] Delta Dent Iowa, Johnston, IA USA. [Chaffin, Jeffrey] AT Still Univ, Coll Grad Hlth Studies, Mesa, AZ USA. [Chaffin, Jeffrey] Assoc State & Territorial Dent Directors, Reno, NV USA. [Crespin, Matt] Childrens Hosp Wisconsin, Childrens Hlth Alliance Wisconsin, Milwaukee, WI USA. [Iafolla, Timothy] Natl Inst Dent & Craniofacial Res, Program Anal & Reports Branch, NIH, Bethesda, MD USA. [Siegal, Mark D.] Ohio State Univ, Coll Dent, Columbus, OH 43210 USA. [Siegal, Mark D.] Amer Assoc Publ Hlth Dent, Springfield, IL USA. [Carrasco-Labra, Alonso] Amer Dent Assoc, Ctr Evidence Based Dent, Chicago, IL USA. [Carrasco-Labra, Alonso] Univ Chile, Evidence Based Dent Unit, Fac Dent, Santiago, Chile. [Carrasco-Labra, Alonso] Univ Chile, Dept Oral & Maxillofacial Surg, Fac Dent, Santiago, Chile. [Carrasco-Labra, Alonso] McMaster Univ, Dept Clin Epidemiol & Biostat, Hamilton, ON, Canada. RP Tampi, MP (reprint author), Amer Dent Assoc, Inst Sci, Ctr Evidence Based Dent, Chicago, IL 60611 USA. EM tampim@ada.org FU National Institute of Dental; Craniofacial Research; Delta Dental; Ivoclar Vivadent; Children's Dental Health Project; Delta Dental of Wisconsin; Washington Dental Services Foundation; DentaQuest Foundation; Health Resource and Services Administration Maternal and Child Health Bureau; Healthier Wisconsin Partnership Program FX Dr. Fontana is a consultant for the American Dental Association Council on Scientific Affairs. In the past, she has received funds from the National Institute of Dental and Craniofacial Research, Delta Dental, and Ivoclar Vivadent to conduct research focused on dental sealants. These grants ended before her engagement with the work involved in this manuscript. Dr. Novy's previous continuing education lecture honoraria were provided by the following manufacturers of sealant materials: GC America, SDI, and Shofu, and his previous continuing education lecture honoraria were provided by the following dental manufacturers: Air Techniques, CariFree, GlaxoSmithKline, Ivoclar, Phillips, Solutionreach, Triodent, and Xlear. Mr. Crespin is the chair of the Children's Dental Health Project's sealant work group and has received funding from Children's Dental Health Project, Delta Dental of Wisconsin, Washington Dental Services Foundation, DentaQuest Foundation, Health Resource and Services Administration Maternal and Child Health Bureau, and the Healthier Wisconsin Partnership Program. Mr. Crespin serves on the board of trustees of the American Dental Hygienists' Association. None of the other authors reported any disclosures. NR 44 TC 1 Z9 1 U1 3 U2 3 PU AMER ACAD PEDIATRIC DENTISTRY PI CHICAGO PA 211 E CHICAGO AVENUE SUITE 1036, CHICAGO, IL 60611-2616 USA SN 0164-1263 EI 1942-5473 J9 PEDIATR DENT JI Pediatr. Dent. PD JUL-AUG PY 2016 VL 38 IS 4 BP 282 EP 294 DI 10.1016/j.adaj.2016.06.003 PG 13 WC Dentistry, Oral Surgery & Medicine; Pediatrics SC Dentistry, Oral Surgery & Medicine; Pediatrics GA DT4KJ UT WOS:000381448300003 PM 27557916 ER PT J AU Cabral, WA Ishikawa, M Garten, M Makareeva, EN Sargent, BM Weis, M Barnes, AM Webb, EA Shaw, NJ Ala-Kokko, L Lacbawan, FL Hogler, W Leikin, S Blank, PS Zimmerberg, J Eyre, DR Yamada, Y Marini, JC AF Cabral, Wayne A. Ishikawa, Masaki Garten, Matthias Makareeva, Elena N. Sargent, Brandi M. Weis, MaryAnn Barnes, Aileen M. Webb, Emma A. Shaw, Nicholas J. Ala-Kokko, Leena Lacbawan, Felicitas L. Hogler, Wolfgang Leikin, Sergey Blank, Paul S. Zimmerberg, Joshua Eyre, David R. Yamada, Yoshihiko Marini, Joan C. TI Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta SO PLOS GENETICS LA English DT Article ID ENDOPLASMIC-RETICULUM STRESS; UNFOLDED-PROTEIN RESPONSE; I COLLAGEN; CYCLOPHILIN-B; PROLYL 3-HYDROXYLATION; DELETION MUTATION; CHAIN ASSOCIATION; LYSYL HYDROXYLASE; BONE-COLLAGEN; ALPHA 2(I) AB Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations in TMEM38B was identified. TMEM38B encodes the ER membrane monovalent cation channel, TRIC-B, proposed to counterbalance IP3R-mediated Ca2+ release from intracellular stores. The molecular mechanisms by which TMEM38B mutations cause OI are unknown. We identified 3 probands with recessive defects in TMEM38B. TRIC-B protein is undetectable in proband fibroblasts and osteoblasts, although reduced TMEM38B transcripts are present. TRIC-B deficiency causes impaired release of ER luminal Ca2+, associated with deficient store-operated calcium entry, although SERCA and IP3R have normal stability. Notably, steady state ER Ca2+ is unchanged in TRIC-B deficiency, supporting a role for TRIC-B in the kinetics of ER calcium depletion and recovery. The disturbed Ca2+ flux causes ER stress and increased BiP, and dysregulates synthesis of proband type I collagen at multiple steps. Collagen helical lysine hydroxylation is reduced, while telopeptide hydroxylation is increased, despite increased LH1 and decreased Ca2+-dependent FKBP65, respectively. Although PDI levels are maintained, procollagen chain assembly is delayed in proband cells. The resulting misfolded collagen is substantially retained in TRIC-B null cells, consistent with a 50-70% reduction in secreted collagen. Lower-stability forms of collagen that elude proteasomal degradation are not incorporated into extracellular matrix, which contains only normal stability collagen, resulting in matrix insufficiency. These data support a role for TRIC-B in intracellular Ca2+ homeostasis, and demonstrate that absence of TMEM38B causes OI by dysregulation of calcium flux kinetics in the ER, impacting multiple collagen-specific chaperones and modifying enzymes. C1 [Cabral, Wayne A.; Sargent, Brandi M.; Barnes, Aileen M.; Marini, Joan C.] NICHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD USA. [Ishikawa, Masaki; Yamada, Yoshihiko] NIDCR, Mol Biol Sect, NIH, Bethesda, MD USA. [Garten, Matthias; Blank, Paul S.; Zimmerberg, Joshua] NICHD, Sect Integrat Biophys, NIH, Bethesda, MD USA. [Makareeva, Elena N.; Leikin, Sergey] NICHD, Sect Phys Biochem, NIH, Bethesda, MD USA. [Weis, MaryAnn; Eyre, David R.] Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA. [Webb, Emma A.; Hogler, Wolfgang] Univ Birmingham, Sch Clin & Expt Med, Inst Biomed Res, Birmingham, W Midlands, England. [Webb, Emma A.; Shaw, Nicholas J.; Hogler, Wolfgang] Birmingham Childrens Hosp, Dept Endocrinol & Diabet, Birmingham, W Midlands, England. [Ala-Kokko, Leena] Connect Tissue Gene Tests, Allentown, PA USA. [Lacbawan, Felicitas L.] Childrens Natl Med Ctr, Dept Med Genet, Washington, DC 20010 USA. RP Marini, JC (reprint author), NICHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD USA. EM oidoc@helix.nih.gov RI Leikin, Sergey/A-5518-2008; OI Leikin, Sergey/0000-0001-7095-0739; Garten, Matthias/0000-0002-8660-1039 FU NIH [AR037318, HD070394]; NIH FX This study was supported by NIH grants AR037318 (NIAMS) and HD070394 (NICHD) to DRE, and NIH intramural funds to YY (NIDCR), SL (NICHD), JZ (NICHD) and JCM (NICHD). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 69 TC 3 Z9 3 U1 4 U2 4 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-7404 J9 PLOS GENET JI PLoS Genet. PD JUL PY 2016 VL 12 IS 7 AR e1006156 DI 10.1371/journal.pgen.1006156 PG 27 WC Genetics & Heredity SC Genetics & Heredity GA DS8RI UT WOS:000381050100024 PM 27441836 ER PT J AU De, S Mitra, A Cheng, YZ Pfeifer, K Kassis, JA AF De, Sandip Mitra, Apratim Cheng, Yuzhong Pfeifer, Karl Kassis, Judith A. TI Formation of a Polycomb-Domain in the Absence of Strong Polycomb Response Elements SO PLOS GENETICS LA English DT Article ID DROSOPHILA ENGRAILED GENE; IN-SITU DISSECTION; BITHORAX COMPLEX; REGULATORY SEQUENCES; MELANOGASTER; PROTEINS; DNA; REPRESSION; BINDING; EXPRESSION AB Polycomb group response elements (PREs) in Drosophila are DNA-elements that recruit Polycomb proteins (PcG) to chromatin and regulate gene expression. PREs are easily recognizable in the Drosophila genome as strong peaks of PcG-protein binding over discrete DNA fragments; many small but statistically significant PcG peaks are also observed in PcG domains. Surprisingly, in vivo deletion of the four characterized strong PREs from the PcG regulated invected-engrailed (inv-en) gene complex did not disrupt the formation of the H3K27me3 domain and did not affect inv-en expression in embryos or larvae suggesting the presence of redundant PcG recruitment mechanism. Further, the 3D-structure of the inv-en domain was only minimally altered by the deletion of the strong PREs. A reporter construct containing a 7.5kb en fragment that contains three weak peaks but no large PcG peaks forms an H3K27me3 domain and is PcG-regulated. Our data suggests a model for the recruitment of PcG-complexes to Drosophila genes via interactions with multiple, weak PREs spread throughout an H3K27me3 domain. C1 [De, Sandip; Mitra, Apratim; Cheng, Yuzhong; Pfeifer, Karl; Kassis, Judith A.] Eunice Kennedy Shriver Natl Inst Child Hlth Human, Program Genom Differentiat, NIH, Bethesda, MD 20892 USA. RP Kassis, JA (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth Human, Program Genom Differentiat, NIH, Bethesda, MD 20892 USA. EM jkassis@mail.nih.gov OI Pfeifer, Karl/0000-0002-0254-682X FU Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health FX This work was supported by the Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 71 TC 0 Z9 0 U1 7 U2 7 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-7404 J9 PLOS GENET JI PLoS Genet. PD JUL PY 2016 VL 12 IS 7 AR e1006200 DI 10.1371/journal.pgen.1006200 PG 22 WC Genetics & Heredity SC Genetics & Heredity GA DS8RI UT WOS:000381050100055 PM 27466807 ER PT J AU Xiao, Y Thoresen, DT Miao, LL Williams, JS Wang, CC Atit, RP Wong, SY Brownell, I AF Xiao, Ying Thoresen, Daniel T. Miao, Lingling Williams, Jonathan S. Wang, Chaochen Atit, Radhika P. Wong, Sunny Y. Brownell, Isaac TI A Cascade of Wnt, Eda, and Shh Signaling Is Essential for Touch Dome Merkel Cell Development SO PLOS GENETICS LA English DT Article ID HAIR FOLLICLE MORPHOGENESIS; EPIDERMAL STEM-CELLS; SONIC-HEDGEHOG; EMBRYONIC-DEVELOPMENT; BETA-CATENIN; DORSAL SKIN; MOUSE SKIN; MICE; EXPRESSION; ROLES AB The Sonic hedgehog (Shh) signaling pathway regulates developmental, homeostatic, and repair processes throughout the body. In the skin, touch domes develop in tandem with primary hair follicles and contain sensory Merkel cells. The developmental signaling requirements for touch dome specification are largely unknown. We found dermal Wnt signaling and subsequent epidermal Eda/Edar signaling promoted Merkel cell morphogenesis by inducing Shh expression in early follicles. Lineage-specific gene deletions revealed intraepithelial Shh signaling was necessary for Merkel cell specification. Additionally, a Shh signaling agonist was sufficient to rescue Merkel cell differentiation in Edar-deficient skin. Moreover, Merkel cells formed in Fgf20 mutant skin where primary hair formation was defective but Shh production was preserved. Although developmentally associated with hair follicles, fate mapping demonstrated Merkel cells primarily originated outside the hair follicle lineage. These findings suggest that touch dome development requires Wnt-dependent mesenchymal signals to establish reciprocal signaling within the developing ectoderm, including Eda signaling to primary hair placodes and ultimately Shh signaling from primary follicles to extrafollicular Merkel cell progenitors. Shh signaling often demonstrates pleiotropic effects within a structure over time. In postnatal skin, Shh is known to regulate the self-renewal, but not the differentiation, of touch dome stem cells. Our findings relate the varied effects of Shh in the touch dome to the ligand source, with locally produced Shh acting as a morphogen essential for lineage specification during development and neural Shh regulating postnatal touch dome stem cell maintenance. C1 [Xiao, Ying; Thoresen, Daniel T.; Miao, Lingling; Williams, Jonathan S.; Brownell, Isaac] Natl Canc Inst, Dermatol Branch, Ctr Canc Res, NIH, Bethesda, MD USA. [Wang, Chaochen] NIDDK, Lab Genet & Physiol, NIH, Bethesda, MD 20892 USA. [Atit, Radhika P.] Case Western Reserve Univ, Dept Biol, Cleveland, OH 44106 USA. [Wong, Sunny Y.] Univ Michigan, Dept Dermatol, Ann Arbor, MI 48109 USA. [Wong, Sunny Y.] Univ Michigan, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA. RP Brownell, I (reprint author), Natl Canc Inst, Dermatol Branch, Ctr Canc Res, NIH, Bethesda, MD USA. EM isaac.brownell@nih.gov OI Brownell, Isaac/0000-0002-0090-9914 FU NIH Intramural Research Program, CCR, NCI [ZIA BC011393]; NIH-NIDCR [R01DE01870]; NIH-NIAMS [R01AR065409] FX This work was supported by the NIH Intramural Research Program, CCR, NCI. Award number ZIA BC011393 to IB. https://ccr.cancer.gov/. NIH-NIDCR award number R01DE01870 to RPA. http://www.nidcr.nih.gov/. NIH-NIAMS award number R01AR065409 to SYW. http://www.niams.nih.gov/. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 53 TC 0 Z9 0 U1 2 U2 3 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-7404 J9 PLOS GENET JI PLoS Genet. PD JUL PY 2016 VL 12 IS 7 AR e1006150 DI 10.1371/journal.pgen.1006150 PG 19 WC Genetics & Heredity SC Genetics & Heredity GA DS8RI UT WOS:000381050100019 PM 27414798 ER PT J AU Zhao, XN Lokanga, R Allette, K Gazy, I Wu, D Usdin, K AF Zhao, Xiao-Nan Lokanga, Rachel Allette, Kimaada Gazy, Inbal Wu, Di Usdin, Karen TI A MutS beta-Dependent Contribution of MutS alpha to Repeat Expansions in Fragile X Premutation Mice? SO PLOS GENETICS LA English DT Article ID MISMATCH-REPAIR PROTEINS; KNOCK-IN MICE; MOUSE MODEL; TRINUCLEOTIDE REPEATS; SOMATIC EXPANSION; TRIPLET-REPEAT; DNA-REPAIR; CANCER SUSCEPTIBILITY; HAIRPIN STRUCTURES; TRANSGENIC MICE AB The fragile X-related disorders result from expansion of a CGG/CCG microsatellite in the 5' UTR of the FMR1 gene. We have previously demonstrated that the MSH2/MSH3 complex, MutS beta, that is important for mismatch repair, is essential for almost all expansions in a mouse model of these disorders. Here we show that the MSH2/MSH6 complex, MutS alpha also contributes to the production of both germ line and somatic expansions as evidenced by the reduction in the number of expansions observed in Msh6(-/-) mice. This effect is not mediated via an indirect effect of the loss of MSH6 on the level of MSH3. However, since MutS beta is required for 98% of germ line expansions and almost all somatic ones, MutS alpha is apparently not able to efficiently substitute for MutS beta in the expansion process. Using purified human proteins we demonstrate that MutS alpha, like MutS beta, binds to substrates with loop-outs of the repeats and increases the thermal stability of the structures that they form. We also show that MutS alpha facilitates binding of MutS beta to these loop-outs. These data suggest possible models for the contribution of MutS alpha to repeat expansion. In addition, we show that unlike MutS beta, MutS alpha may also act to protect against repeat contractions in the Fmr1 gene. C1 [Zhao, Xiao-Nan; Lokanga, Rachel; Allette, Kimaada; Gazy, Inbal; Usdin, Karen] NIDDKD, Sect Gene Struct & Dis, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA. [Lokanga, Rachel] Univ Cape Town, Sch Med, Div Med Biochem, Cape Town, South Africa. [Wu, Di] NIDDKD, Sect Phys Biochem, Lab Biochem & Genet, NIH, Bethesda, MD 20892 USA. [Allette, Kimaada] Icahn Sch Med Mt Sinai, Icahn Inst, New York, NY 10029 USA. [Allette, Kimaada] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA. [Wu, Di] Florida State Univ, Inst Mol Biophys, Tallahassee, FL 32306 USA. RP Usdin, K (reprint author), NIDDKD, Sect Gene Struct & Dis, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA. EM ku@helix.nih.gov RI Zhao, Xiaonan/S-3139-2016 FU National Institute of Diabetes, Digestive and Kidney Diseases [DK057808-07] FX The work described in this manuscript was funded by a grant from the Intramural Program of the National Institute of Diabetes, Digestive and Kidney Diseases to KU (Grant number DK057808-07). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 55 TC 2 Z9 2 U1 1 U2 1 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1553-7404 J9 PLOS GENET JI PLoS Genet. PD JUL PY 2016 VL 12 IS 7 AR e1006190 DI 10.1371/journal.pgen.1006190 PG 19 WC Genetics & Heredity SC Genetics & Heredity GA DS8RI UT WOS:000381050100049 PM 27427765 ER PT J AU Liu, H Ning, J Qin, J Shen, Y AF Liu, Hao Ning, Jing Qin, Jing Shen, Yu TI SEMIPARAMETRIC MAXIMUM LIKELIHOOD INFERENCE FOR TRUNCATED OR BIASED-SAMPLING DATA SO STATISTICA SINICA LA English DT Article DE Biased sampling; length bias data; truncated and right censored survival data ID PREVALENT COHORT DATA; SELECTION BIAS; SURVIVAL-DATA; NONPARAMETRIC-ESTIMATION; REGRESSION-ANALYSIS; HAZARDS REGRESSION; STATISTICAL-MODELS; ASYMPTOTIC THEORY; FRAILTY MODEL; CENSORED-DATA AB Sample selection bias has long been recognized in many fields including clinical trials, epidemiology studies, genome-wide association studies, and wildlife management. This paper investigates the maximum likelihood estimation for censored survival data with selection bias under the Cox regression models where the selection process is modeled parametrically. A novel expectation-maximization algorithm is proposed and shown to have considerable computational advantages. Rigorous asymptotic properties of the estimator are established. Extensive simulation studies and a data analysis are conducted to investigate the performance of the proposed estimation procedure. C1 [Liu, Hao] Baylor Coll Med, Div Biostat, Dan L Duncan Canc Ctr, Houston, TX 77030 USA. [Ning, Jing; Shen, Yu] Univ Texas MD Anderson Canc Ctr, Dept Biostat, Houston, TX 77030 USA. [Qin, Jing] NIAID, Biostat Res Branch, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Liu, H (reprint author), Baylor Coll Med, Div Biostat, Dan L Duncan Canc Ctr, Houston, TX 77030 USA. EM haol@bcm.edu; jning@mdanderson.org; jingqin@niaid.nih.gov; yshen@mdanderson.org FU Seniors' Independence Research Program, through the National Health Research and Development Program of Health Canada [6606-3954-MC(S)]; Pfizer Canada Incorporated through the Medical Research Council/Pharmaceutical Manufacturers Association of Canada Health Activity Program, NHRDP [6603-1417-302(R)]; Bayer Incorporated; British Columbia Health Research Foundation Projects [38 (93-2), 34 (96-1)]; National Institutes of Health FX We thank Professor Masoud Asgharian and the investigators of the Canadian Study of Health and Aging (CHSA) for providing us with the dementia data, which were collected as part of the CHSA, funded by the Seniors' Independence Research Program, through the National Health Research and Development Program of Health Canada (Project no.6606-3954-MC(S)). Additional funding was provided by Pfizer Canada Incorporated through the Medical Research Council/Pharmaceutical Manufacturers Association of Canada Health Activity Program, NHRDP Project 6603-1417-302(R), Bayer Incorporated, and the British Columbia Health Research Foundation Projects 38 (93-2) and 34 (96-1). The study was coordinated through the University of Ottawa and the Division of Aging and Seniors, Health Canada. This work in this paper was supported in part by the National Institutes of Health. NR 47 TC 1 Z9 1 U1 0 U2 0 PU STATISTICA SINICA PI TAIPEI PA C/O DR H C HO, INST STATISTICAL SCIENCE, ACADEMIA SINICA, TAIPEI 115, TAIWAN SN 1017-0405 EI 1996-8507 J9 STAT SINICA JI Stat. Sin. PD JUL PY 2016 VL 26 IS 3 BP 1087 EP 1115 DI 10.5705/ss.2014.094 PG 29 WC Statistics & Probability SC Mathematics GA DT6JU UT WOS:000381591300010 ER PT J AU Jiang, SZ Eiden, LE AF Jiang, Sunny Zhihong Eiden, Lee E. TI Activation of the HPA axis and depression of feeding behavior induced by restraint stress are separately regulated by PACAPergic neurotransmission in the mouse SO STRESS-THE INTERNATIONAL JOURNAL ON THE BIOLOGY OF STRESS LA English DT Article; Proceedings Paper CT 11th International Symposium on Catecholamines and Other Neurotransmitters in Stress CY JUN, 2015 CL SLOVAKIA DE Acute psychogenic stress; chronic psychogenic stress; corticosterone; HPA axis; hypophagia; pituitary adenylate cyclase-activating polypeptide; prolonged psychogenic stress; restraint stress ID HYPOTHALAMIC PARAVENTRICULAR NUCLEUS; STRIA TERMINALIS BNST; PITUITARY-ADRENOCORTICAL AXIS; CENTRAL-NERVOUS-SYSTEM; HORMONE CRH GENE; POLYPEPTIDE PACAP; BED NUCLEUS; EMOTIONAL-STRESS; PEPTIDE PACAP; BRAIN-STEM AB We measured serum CORT elevation in wild-type and PACAP-deficient C57BL/6N male mice after acute (1h) or prolonged (2-3h) daily restraint stress for 7 d. The PACAP dependence of CORT elevation was compared to that of stress-induced hypophagia. Daily restraint induced unhabituated peak CORT elevation, and hypophagia/weight loss, of similar magnitude for 1, 2, and 3h of daily restraint, in wild-type mice. Peak CORT elevation, and hypophagia, were both attenuated in PACAP-deficient mice for 2 and 3h daily restraint. Hypophagia induced by 1-h daily restraint was also greatly reduced in PACAP-deficient mice, however CORT elevation, both peak and during recovery from stress, was unaffected. Thus, hypothalamic PACAPergic neurotransmission appears to affect CRH gene transcription and peptide production, but not CRH release, in response to psychogenic stress. A single exposure to restraint sufficed to trigger hypophagia over the following 24h. PACAP deficiency attenuated HPA axis response (CORT elevation) to prolonged (3h) but not acute (1h) single-exposure restraint stress, while hypophagia induced by either a single 1h or a single 3h restraint were both abolished in PACAP-deficient mice. These results suggest that PACAP's actions to promote suppression of food intake following an episode of psychogenic stress is unrelated to the release of CRH into the portal circulation to activate the pituitary-adrenal axis. Furthermore, demonstration of suppressed food intake after a single 1-h restraint stress provides a convenient assay for investigating the location of the synapses and circuits mediating the effects of PACAP on the behavioral sequelae of psychogenic stress. C1 [Jiang, Sunny Zhihong; Eiden, Lee E.] NIMH, Sect Mol Neurosci, Bldg 49,Room 5A-38,9000 Rockville Pike, Bethesda, MD 20892 USA. RP Eiden, LE (reprint author), NIMH, Sect Mol Neurosci, Bldg 49,Room 5A-38,9000 Rockville Pike, Bethesda, MD 20892 USA. EM eidenl@mail.nih.gov FU NIMH NIH HHS [Z01 MH002386] NR 42 TC 1 Z9 1 U1 0 U2 0 PU TAYLOR & FRANCIS LTD PI ABINGDON PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND SN 1025-3890 EI 1607-8888 J9 STRESS JI Stress PD JUL PY 2016 VL 19 IS 4 BP 374 EP 382 DI 10.1080/10253890.2016.1174851 PG 9 WC Behavioral Sciences; Endocrinology & Metabolism; Neurosciences SC Behavioral Sciences; Endocrinology & Metabolism; Neurosciences & Neurology GA DU9EF UT WOS:000382518400005 PM 27228140 ER PT J AU Krizanova, O Babula, P Pacak, K AF Krizanova, O. Babula, P. Pacak, K. TI Stress, catecholaminergic system and cancer SO STRESS-THE INTERNATIONAL JOURNAL ON THE BIOLOGY OF STRESS LA English DT Article; Proceedings Paper CT 11th International Symposium on Catecholamines and Other Neurotransmitters in Stress CY JUN, 2015 CL SLOVAKIA DE Adrenergic receptors; -blockers; catecholamines; dopamine; epinephrine; norepinephrine; stress; tumor ID SQUAMOUS-CELL CARCINOMA; REPEATED IMMOBILIZATION STRESS; ENDOTHELIAL GROWTH-FACTOR; POPULATION-BASED COHORT; OVARIAN-CARCINOMA; BREAST-CANCER; COLORECTAL-CANCER; GASTRIC-CANCER; BETA-BLOCKERS; TUMOR-GROWTH AB Stress as a modern civilization factor significantly affects our lives. While acute stress might have a positive effect on the organism, chronic stress is usually detrimental and might lead to serious health complications. It is known that stress induced by the physical environment (temperature-induced cold stress) can significantly impair the efficacy of cytotoxic chemotherapies and the anti-tumor immune response. On the other hand, epidemiological evidence has shown that patients taking drugs known as -adrenergic antagonists (-blockers), which are commonly prescribed to treat arrhythmia, hypertension, and anxiety, have significantly lower rates of several cancers. In this review, we summarize the current knowledge about catecholamines as important stress hormones in tumorigenesis and discuss the use of -blockers as the potential therapeutic agents. C1 [Krizanova, O.] Slovak Acad Sci, Inst Clin & Translat Res, Biomed Res Ctr, Dubravska Cesta 9, Bratislava 84505, Slovakia. [Krizanova, O.; Babula, P.] Masaryk Univ, Dept Physiol, Fac Med, Brno, Czech Republic. [Pacak, K.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Dev Endocrinol & Tumor Genet Affin Grp, Sect Med Neuroendocrinol, NIH, Bethesda, MD USA. RP Krizanova, O (reprint author), Slovak Acad Sci, Inst Clin & Translat Res, Biomed Res Ctr, Dubravska Cesta 9, Bratislava 84505, Slovakia. EM olga.krizanova@savba.sk NR 112 TC 2 Z9 2 U1 11 U2 11 PU TAYLOR & FRANCIS LTD PI ABINGDON PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND SN 1025-3890 EI 1607-8888 J9 STRESS JI Stress PD JUL PY 2016 VL 19 IS 4 BP 419 EP 428 DI 10.1080/10253890.2016.1203415 PG 10 WC Behavioral Sciences; Endocrinology & Metabolism; Neurosciences SC Behavioral Sciences; Endocrinology & Metabolism; Neurosciences & Neurology GA DU9EF UT WOS:000382518400010 PM 27398826 ER PT J AU Stephens, ML Betts, K Beck, NB Cogliano, V Dickersin, K Fitzpatrick, S Freeman, J Gray, G Hartung, T McPartland, J Rooney, AA Scherer, RW Verloo, D Hoffmann, S AF Stephens, Martin L. Betts, Kellyn Beck, Nancy B. Cogliano, Vincent Dickersin, Kay Fitzpatrick, Suzanne Freeman, James Gray, George Hartung, Thomas McPartland, Jennifer Rooney, Andrew A. Scherer, Roberta W. Verloo, Didier Hoffmann, Sebastian TI The Emergence of Systematic Review in Toxicology SO TOXICOLOGICAL SCIENCES LA English DT Review DE systematic review; risk of bias; data integration ID EVIDENCE-BASED MEDICINE; ENVIRONMENTAL-HEALTH SCIENCE; FETAL-GROWTH; EPIDEMIOLOGIC EVIDENCE; ARSENIC EXPOSURE; QUALITY; INTEGRATION; VALIDATION AB The Evidence-based Toxicology Collaboration hosted a workshop on "The Emergence of Systematic Review and Related Evidence-based Approaches in Toxicology," on November 21, 2014 in Baltimore, Maryland. The workshop featured speakers from agencies and organizations applying systematic review approaches to questions in toxicology, speakers with experience in conducting systematic reviews in medicine and healthcare, and stakeholders in industry, government, academia, and non-governmental organizations. Based on the workshop presentations and discussion, here we address the state of systematic review methods in toxicology, historical antecedents in both medicine and toxicology, challenges to the translation of systematic review from medicine to toxicology, and thoughts on the way forward. We conclude with a recommendation that as various agencies and organizations adapt systematic review methods, they continue to work together to ensure that there is a harmonized process for how the basic elements of systematic review methods are applied in toxicology. C1 [Stephens, Martin L.; Hartung, Thomas] Johns Hopkins Ctr Alternat Anim Testing, Baltimore, MD USA. [Beck, Nancy B.] Amer Chem Council, Washington, DC USA. [Cogliano, Vincent] US EPA, Arlington, VA USA. [Dickersin, Kay; Scherer, Roberta W.] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA. [Fitzpatrick, Suzanne] US FDA, Ctr Food Safety & Appl Nutr, College Pk, MD USA. [Freeman, James] ExxonMobil Biomed Sci, Annandale, NJ USA. [Gray, George] George Washington Univ, Milken Inst Sch Publ Hlth, Washington, DC USA. [Hartung, Thomas] Univ Konstanz, CAAT Europe, Constance, Germany. [McPartland, Jennifer] Environm Def Fund, Washington, DC USA. [Rooney, Andrew A.] NIEHS, Off Hlth Assessment & Translat, Div Natl Toxicol Program, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. [Verloo, Didier] European Food Safety Author, I-43126 Parma, Italy. [Hoffmann, Sebastian] Seh Consulting Serv, D-33098 Paderborn, Germany. RP Stephens, ML (reprint author), Johns Hopkins Ctr Alternat Anim Testing, Baltimore, MD USA. EM msteph14@jhu.edu FU ExxonMobil Foundation FX This work was supported by funding from an anonymous private charitable foundation and the ExxonMobil Foundation to the Johns Hopkins Center for Alternatives to Animal Testing (CAAT). CAAT serves as the secretariat for the Evidence-based Toxicology Collaboration, which hosted the workshop on which this article is based. Only those authors working at or for CAAT (K.B., T.H., S.H., and M.L.S.) received compensation from these sources via CAAT for their participation in the workshop or their preparation of this article. NR 44 TC 4 Z9 4 U1 4 U2 7 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1096-6080 EI 1096-0929 J9 TOXICOL SCI JI Toxicol. Sci. PD JUL PY 2016 VL 152 IS 1 BP 10 EP 16 DI 10.1093/toxsci/kfw059 PG 7 WC Toxicology SC Toxicology GA DT2AA UT WOS:000381282000002 PM 27208075 ER PT J AU El-Masri, H Kleinstreuer, N Hines, RN Adams, L Tal, T Isaacs, K Wetmore, BA Tan, YM AF El-Masri, Hisham Kleinstreuer, Nicole Hines, Ronald N. Adams, Linda Tal, Tamara Isaacs, Kristin Wetmore, Barbara A. Tan, Yu-Mei TI Integration of Life-Stage Physiologically Based Pharmacokinetic Models with Adverse Outcome Pathways and Environmental Exposure Models to Screen for Environmental Hazards SO TOXICOLOGICAL SCIENCES LA English DT Article DE PBPK; AOPs; life-stage; developmental toxicology; environmental toxicology ID BLOOD-FLOW; IN-VITRO; PBPK MODELS; HUMAN FETUS; DEVELOPMENTAL EXPRESSION; TOXCAST PROGRAM; CARDIAC-OUTPUT; DUCTUS VENOSUS; TOXICITY; DOSIMETRY AB A computational framework was developed to assist in screening and prioritizing chemicals based on their dosimetry, toxicity, and potential exposures. The overall strategy started with contextualizing chemical activity observed in high-throughput toxicity screening (HTS) by mapping these assays to biological events described in Adverse Outcome Pathways (AOPs). Next, in vitro to in vivo (IVIVE) extrapolation was used to convert an in vitro dose to an external exposure level, which was compared with potential exposure levels to derive an AOP-based margins of exposure (MOE). In this study, the framework was applied to estimate MOEs for chemicals that can potentially cause developmental toxicity following a putative AOP for fetal vasculogenesis/angiogenesis. A physiologically based pharmacokinetic (PBPK) model was developed to describe chemical disposition during pregnancy, fetal, neonatal, and infant to adulthood stages. Using this life-stage PBPK model, maternal exposures were estimated that would yield fetal blood levels equivalent to the chemical concentration that altered in vitro activity of selected HTS assays related to the most sensitive vasculogenesis/angiogenesis putative AOP. The resulting maternal exposure estimates were then compared with potential exposure levels using literature data or exposure models to derive AOP-based MOEs. C1 [El-Masri, Hisham; Hines, Ronald N.; Adams, Linda; Tal, Tamara] US EPA, Natl Human & Environm Effects Res Lab, Off Res & Dev, Res Triangle Pk, NC USA. [Kleinstreuer, Nicole] Natl Inst Environm Hlth Sci, Natl Toxicol Program, Interagency Ctr Evaluat Alternat Toxicol Methods, Res Triangle Pk, NC USA. [Isaacs, Kristin; Tan, Yu-Mei] US EPA, Natl Exposure Res Lab, Off Res & Dev, Res Triangle Pk, NC USA. [Wetmore, Barbara A.] ScitoVation, Res Triangle Pk, NC USA. RP El-Masri, H (reprint author), US EPA, Natl Human & Environm Effects Res Lab, Off Res & Dev, Res Triangle Pk, NC USA. EM el-masri.hisham@epa.gov OI Kleinstreuer, Nicole/0000-0002-7914-3682; Tal, Tamara/0000-0001-8365-9385 NR 46 TC 0 Z9 0 U1 6 U2 7 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1096-6080 EI 1096-0929 J9 TOXICOL SCI JI Toxicol. Sci. PD JUL PY 2016 VL 152 IS 1 BP 230 EP 243 DI 10.1093/toxsci/kfw082 PG 14 WC Toxicology SC Toxicology GA DT2AA UT WOS:000381282000020 PM 27208077 ER PT J AU Balandaram, G Kramer, LR Kang, BH Murray, LA Perdew, GH Gonzalez, FJ Peters, JM AF Balandaram, Gayathri Kramer, Lance R. Kang, Boo-Hyon Murray, Lain A. Perdew, Gary H. Gonzalez, Frank J. Peters, Jeffrey M. TI Ligand activation of peroxisome proliferator-activated receptor-beta/delta suppresses liver tumorigenesis in hepatitis B transgenic mice SO TOXICOLOGY LA English DT Article DE Peroxisome proliferator-activated receptor-beta/delta; Liver cancer; Kupffer cell; Hepatitis B; Inflammation ID HUMAN HEPATOCELLULAR-CARCINOMA; NECROSIS-FACTOR-ALPHA; E-2 SIGNALING PATHWAYS; CHOLINE-DEFICIENT DIET; PPAR-DELTA AGONIST; C VIRUS-INFECTION; GENE-EXPRESSION; CYCLIN D1; MOLECULAR PATHOGENESIS; METHIONINE-DEFICIENT AB Peroxisome proliferator-activated receptor-beta/delta (PPAR beta/delta) inhibits steatosis and inflammation, known risk factors for liver cancer. In this study, the effect of ligand activation of PPAR beta/delta in modulating liver tumorigenesis in transgenic hepatitis B virus (HBV) mice was examined. Activation of PPAR beta/delta in HBV mice reduced steatosis, the average number of liver foci, and tumor multiplicity. Reduced expression of hepatic CYCLIN D1 and c-MYC, tumor necrosis factor alpha (Tnfa) mRNA, serum levels of alanine aminotransaminase, and an increase in apoptotic signaling was also observed following ligand activation of PPAR beta/delta in HBV mice compared to controls. Inhibition of Tnfa mRNA expression was not observed in wild-type hepatocytes. Ligand activation of PPAR beta/delta inhibited lipopolysaccharide (LPS)-induced mRNA expression of Tnfa in wild-type, but not in Ppar beta/delta-null Kupffer cells. Interestingly, LPS-induced expression of Tnfa mRNA was also inhibited in Kupffer cells from a transgenic mouse line that expressed a DNA binding mutant form of PPAR beta/delta compared to controls. Combined, these results suggest that ligand activation of PPAR beta/delta attenuates hepatic tumorigenesis in HBV transgenic mice by inhibiting steatosis and cell proliferation, enhancing hepatocyte apoptosis, and modulating anti-inflammatory activity in Kupffer cells. (C) 2016 Elsevier Ireland Ltd. All rights reserved. C1 [Balandaram, Gayathri; Kramer, Lance R.; Murray, Lain A.; Perdew, Gary H.; Peters, Jeffrey M.] Penn State Univ, Dept Vet & Biomed Sci, 312 Life Sci Bldg, University Pk, PA 16802 USA. [Balandaram, Gayathri; Kramer, Lance R.; Murray, Lain A.; Perdew, Gary H.; Peters, Jeffrey M.] Penn State Univ, Ctr Mol Toxicol & Carcinogenesis, 312 Life Sci Bldg, University Pk, PA 16802 USA. [Kang, Boo-Hyon] Chemon Nonclin Res Inst, 240 Nampyeong Ro, Yongin, Gyeonggi Do, South Korea. [Gonzalez, Frank J.] NCI, Lab Metab, Bethesda, MD 20892 USA. RP Peters, JM (reprint author), Penn State Univ, Dept Vet & Biomed Sci, 312 Life Sci Bldg, University Pk, PA 16802 USA.; Peters, JM (reprint author), Penn State Univ, Ctr Mol Toxicol & Carcinogenesis, 312 Life Sci Bldg, University Pk, PA 16802 USA. EM jmp21@psu.edu FU National Cancer Institute of the National Institutes of Health [CA140369, CA124533] FX The authors gratefully acknowledge Cherie Anderson from the Penn State Transgenic Mouse Facility, University Park, PA. for generating the transgenic Ppar beta/delta DNA binding domain mutant mouse line. Research reported in this publication was supported in part by the National Cancer Institute of the National Institutes of Health under Award Numbers CA140369 and CA124533. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 78 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0300-483X J9 TOXICOLOGY JI Toxicology PD JUL 1 PY 2016 VL 363 BP 1 EP 9 DI 10.1016/j.tox.2016.07.010 PG 9 WC Pharmacology & Pharmacy; Toxicology SC Pharmacology & Pharmacy; Toxicology GA DU7PX UT WOS:000382408200001 PM 27427494 ER PT J AU Remy, KE Sun, J Wang, D Welsh, J Solomon, SB Klein, HG Natanson, C Cortes-Puch, I AF Remy, K. E. Sun, J. Wang, D. Welsh, J. Solomon, S. B. Klein, H. G. Natanson, C. Cortes-Puch, I. TI Transfusion of recently donated (fresh) red blood cells (RBCs) does not improve survival in comparison with current practice, while safety of the oldest stored units is yet to be established: a meta-analysis SO VOX SANGUINIS LA English DT Article DE blood safety; clinical trial; quality control; red cell components; transfusion medicine (in general); transfusion therapy ID IN-HOSPITAL MORTALITY; CARDIAC-SURGERY; STORAGE DURATION; CRITICALLY-ILL; PROLONGED STORAGE; RANDOMIZED-TRIAL; AGE; OUTCOMES; TRAUMA; ASSOCIATION AB Background and Objectives Preclinical studies generated the hypothesis that older stored red blood cells (RBCs) can increase transfusion risks. To examine the most updated and complete clinical evidence and compare results between two trial designs, we assessed both observational studies and randomized controlled trials (RCTs) studying the effect of RBC storage age on mortality. Materials and Methods Five databases were searched through December 2014 for studies comparing mortality using transfused RBCs having longer and shorter storage times. Results Analysis of six RCTs found no significant differences in survival comparing current practice (average storage age of 2 to 3 weeks) to transfusion of 1- to 10-day-old RBCs (OR 0.91, 95% CI 0.77-1.07). RBC storage age was lower in RCTs vs. observational studies (P = 0.01). The 31 observational studies found an increased risk of death (OR 1.13, 95% CI 1.03-1.24) (P = 0.01) with increasing age of RBCs, a different mortality effect than RCTs (P = 0.02). Conclusion RCTs established that transfusion of 1- to 10-day-old stored RBCs is not superior to current practice. The apparent discrepancy in mortality between analyses of RCTs and observational studies may in part relate to differences in hypotheses tested and ages of stored RBCs studied. Further trials investigating 1- to 10-day-old stored RBC benefits would seem of lower priority than studies to determine whether 4- to 6-week stored units have safety and efficacy equivalent to the 2- to 3-week-old stored RBCs commonly transfused today. C1 [Remy, K. E.; Sun, J.; Wang, D.; Solomon, S. B.; Natanson, C.; Cortes-Puch, I.] NIH, Dept Crit Care Med, Ctr Clin, 10 Ctr Dr,Room 2C145, Bethesda, MD 20892 USA. [Welsh, J.] NIH, NIH Lib, Bldg 10, Bethesda, MD 20892 USA. [Klein, H. G.] NIH, Dept Transfus Med, Ctr Clin, Bethesda, MD 20892 USA. RP Remy, KE (reprint author), NIH, Dept Crit Care Med, Ctr Clin, 10 Ctr Dr,Room 2C145, Bethesda, MD 20892 USA. EM Kenneth.remy@nih.gov; irene.cortespuch@nih.gov FU NIH FX Intramural sources at NIH. NR 58 TC 8 Z9 8 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0042-9007 EI 1423-0410 J9 VOX SANG JI Vox Sang. PD JUL PY 2016 VL 111 IS 1 BP 43 EP 54 DI 10.1111/vox.12380 PG 12 WC Hematology SC Hematology GA DV2SY UT WOS:000382772900006 PM 26848822 ER PT J AU Di Siena, S Gimmelli, R Nori, SL Barbagallo, F Campolo, F Dolci, S Rossi, P Venneri, MA Giannetta, E Gianfrilli, D Feigenbaum, L Lenzi, A Naro, F Cianflone, E Mancuso, T Torella, D Isidori, AM Pellegrini, M AF Di Siena, S. Gimmelli, R. Nori, S. L. Barbagallo, F. Campolo, F. Dolci, S. Rossi, P. Venneri, M. A. Giannetta, E. Gianfrilli, D. Feigenbaum, L. Lenzi, A. Naro, F. Cianflone, E. Mancuso, T. Torella, D. Isidori, A. M. Pellegrini, M. TI Activated c-Kit receptor in the heart promotes cardiac repair and regeneration after injury SO CELL DEATH & DISEASE LA English DT Article ID STEM-CELL FACTOR; RANDOMIZED PHASE-1 TRIAL; MYOCARDIAL-INFARCTION; C-KIT(+) CELLS; ISCHEMIC CARDIOMYOPATHY; IN-VIVO; W-LOCUS; MUTATIONS; EXPRESSION; KINASE AB The role of endogenous c-Kit receptor activation on cardiac cell homeostasis and repair remains largely unexplored. Transgenic mice carrying an activating point mutation (TgD814Y) in the kinase domain of the c-Kit gene were generated. c-Kit(TgD814Y) receptor was expressed in the heart during embryonic development and postnatal life, in a similar timing and expression pattern to that of the endogenous gene, but not in the hematopoietic compartment allowing the study of a cardiac-specific phenotype. c-Kit(TgD814Y) mutation produced a constitutive active c-Kit receptor in cardiac tissue and cells from transgenic mice as demonstrated by the increased phosphorylation of ERK1/2 and AKT, which are the main downstream molecular effectors of c-Kit receptor signaling. In adult transgenic hearts, cardiac morphology, size and total c-Kit(+) cardiac cell number was not different compared with wt mice. However, when c-Kit(TgD814Y) mice were subjected to transmural necrotic heart damage by cryoinjury (CI), all transgenic survived, compared with half of wt mice. In the sub-acute phase after CI, transgenic and wt mice showed similar heart damage. However, 9 days after CI, transgenic mice exhibited an increased number of c-Kit(+)CD31(+) endothelial progenitor cells surrounding the necrotic area. At later follow-up, a consistent reduction of fibrotic area, increased capillary density and increased cardiomyocyte replenishment rate (as established by BrdU incorporation) were observed in transgenic compared with wt mice. Consistently, CD45(-)c-Kit(+) cardiac stem cells isolated from transgenic c-Kit(TgD814Y) mice showed an enhanced endothelial and cardiomyocyte differentiation potential compared with cells isolated from the wt. Constitutive activation of c-Kit receptor in mice is associated with an increased cardiac myogenic and vasculogenic reparative potential after injury, with a significant improvement of survival. C1 [Di Siena, S.; Naro, F.] Sapienza Univ, Dept Anat Histol Forens & Orthoped Sci, Rome, Italy. [Gimmelli, R.; Barbagallo, F.; Campolo, F.; Venneri, M. A.; Giannetta, E.; Gianfrilli, D.; Lenzi, A.; Isidori, A. M.] Sapienza Univ, Dept Expt Med, Viale Policlin 155, I-00161 Rome, Italy. [Nori, S. L.] Univ Salerno, Dept Med & Surg, Baronissi, Italy. [Dolci, S.; Rossi, P.] Tor Vergata Univ, Dept Biomed & Prevent, Rome, Italy. [Feigenbaum, L.] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Frederick, MD USA. [Cianflone, E.; Mancuso, T.; Torella, D.] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Catanzaro, Italy. [Pellegrini, M.] CNR, Inst Cell Biol & Neurobiol, Via E Ramarini 32, I-00015 Rome, Italy. RP Isidori, AM (reprint author), Sapienza Univ, Dept Expt Med, Viale Policlin 155, I-00161 Rome, Italy.; Pellegrini, M (reprint author), CNR, Inst Cell Biol & Neurobiol, Via E Ramarini 32, I-00015 Rome, Italy. EM andrea.isidori@uniroma1.it; manuela.pellegrini@cnr.it FU PRIN; FIRB; MFG PRIN FX PRIN 2010 to FN; FIRB 2010 to FN, AMI, AL; PRIN 2008 to SD; MFG 2009 PRIN 2012 to MP. NR 52 TC 0 Z9 0 U1 6 U2 6 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-4889 J9 CELL DEATH DIS JI Cell Death Dis. PD JUL PY 2016 VL 7 AR e2317 DI 10.1038/cddis.2016.205 PG 15 WC Cell Biology SC Cell Biology GA DS6VD UT WOS:000380920200003 PM 27468693 ER PT J AU Coleman, CN Higgins, GS Brown, JM Baumann, M Kirsch, DG Willers, H Prasanna, PGS Dewhirst, MW Bernhard, EJ Ahmed, MM AF Coleman, C. Norman Higgins, Geoff S. Brown, J. Martin Baumann, Michael Kirsch, David G. Willers, Henning Prasanna, Pataje G. S. Dewhirst, Mark W. Bernhard, Eric J. Ahmed, Mansoor M. TI Improving the Predictive Value of Preclinical Studies in Support of Radiotherapy Clinical Trials SO CLINICAL CANCER RESEARCH LA English DT Review ID CANCER STEM-CELLS; RADIATION ONCOLOGY; TUMOR XENOGRAFTS; ANTICANCER AGENTS; DRUG SCREEN; THERAPY; HETEROGENEITY; EXPRESSION; RADIOSENSITIZERS; COMBINATIONS AB There is an urgent need to improve reproducibility and translatability of preclinical data to fully exploit opportunities for molecular therapeutics involving radiation and radiochemotherapy. For in vitro research, the clonogenic assay remains the current state-of-the-art of preclinical assays, whereas newer moderate and high-throughput assays offer the potential for rapid initial screening. Studies of radiation response modification by molecularly targeted agents can be improved using more physiologic 3D culture models. Elucidating effects on the cancer stem cells (CSC, and CSC-like) and developing biomarkers for defining targets and measuring responses are also important. In vivo studies are necessary to confirm in vitro findings, further define mechanism of action, and address immunomodulation and treatment-induced modification of the microenvironment. Newer in vivo models include genetically engineered and patient-derived xenograft mouse models and spontaneously occurring cancers in domesticated animals. Selection of appropriate endpoints is important for in vivo studies; for example, regrowth delay measures bulk tumor killing, whereas local tumor control assesses effects on CSCs. The reliability of individual assays requires standardization of procedures and cross-laboratory validation. Radiation modifiers must be tested as part of clinical standard of care, which includes radiochemotherapy for most tumors. Radiation models are compatible with but also differ from those used for drug screening. Furthermore, the mechanism of a drug as a chemotherapeutic agent may be different from its interaction with radiation and/or radiochemotherapy. This provides an opportunity to expand the use of molecular-targeted agents. (C) 2016 AACR. C1 [Coleman, C. Norman; Prasanna, Pataje G. S.; Bernhard, Eric J.; Ahmed, Mansoor M.] NCI, Radiat Res Program, Div Canc Treatment & Diag, NIH, 9609 Med Ctr Dr,3W102, Bethesda, MD 20892 USA. [Higgins, Geoff S.] Univ Oxford, Oxford Inst Radiat Oncol, MRC, Canc Res UK, Oxford OX1 2JD, England. [Brown, J. Martin] Stanford Univ, Sch Med, Dept Radiat Oncol, Stanford, CA 94305 USA. [Baumann, Michael] Tech Univ Dresden, Helmholtz Zenrtum Dresden Rossendorf, OncoRay Natl Ctr Radiat Res, Dresden, Germany. [Baumann, Michael] Dresden German Canc Res Ctr DKFZ, German Canc Consortium, Dresden, Germany. [Kirsch, David G.; Dewhirst, Mark W.] Duke Univ, Dept Radiat Oncol, Durham, NC USA. [Kirsch, David G.] Duke Univ, Dept Pharmacol, Durham, NC USA. [Kirsch, David G.] Duke Univ, Dept Canc Biol, Durham, NC USA. [Willers, Henning] Harvard Med Sch, Massachusetts Gen Hosp, Dept Radiat Oncol, Boston, MA USA. [Dewhirst, Mark W.] Duke Univ, Dept Pathol, Durham, NC 27706 USA. [Dewhirst, Mark W.] Duke Univ, Dept Biomed Engn, Durham, NC 27706 USA. RP Coleman, CN (reprint author), NCI, Radiat Res Program, Div Canc Treatment & Diag, NIH, 9609 Med Ctr Dr,3W102, Bethesda, MD 20892 USA. EM ccoleman@mail.nih.gov FU American Cancer Society [123420RSG-12-224-01-DMC] FX H. Willers is supported by the American Cancer Society (123420RSG-12-224-01-DMC). NR 71 TC 4 Z9 4 U1 5 U2 6 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1078-0432 EI 1557-3265 J9 CLIN CANCER RES JI Clin. Cancer Res. PD JUL 1 PY 2016 VL 22 IS 13 BP 3138 EP 3147 DI 10.1158/1078-0432.CCR-16-0069 PG 10 WC Oncology SC Oncology GA DS7AE UT WOS:000380933900005 PM 27154913 ER PT J AU Medvar, B Raghuram, V Pisitkun, T Sarkar, A Knepper, MA AF Medvar, Barbara Raghuram, Viswanathan Pisitkun, Trairak Sarkar, Abhijit Knepper, Mark A. TI Comprehensive database of human E3 ubiquitin ligases: application to aquaporin-2 regulation SO PHYSIOLOGICAL GENOMICS LA English DT Article DE aquaporin-2; E3 ubiquitin ligases; collecting duct; kidney ID MEDULLARY COLLECTING DUCT; LC-MS/MS; VASOPRESSIN; KIDNEY; RAT; CELLS; PERMEABILITY; TRAFFICKING; PROTEINS; CHANNEL AB Aquaporin-2 (AQP2) is regulated in part via vasopressin-mediated changes in protein half-life that are in turn dependent on AQP2 ubiquitination. Here we addressed the question, "What E3 ubiquitin ligase is most likely to be responsible for AQP2 ubiquitination?" using large-scale data integration based on Bayes' rule. The first step was to bioinformatically identify all E3 ligase genes coded by the human genome. The 377 E3 ubiquitin ligases identified in the human genome, consisting predominant of HECT, RING, and U-box proteins, have been used to create a publically accessible and downloadable online database (https://hpcwebapps.cit.nih.gov/ESBL/Database/E3-ligases/). We also curated a second database of E3 ligase accessory proteins that included BTB domain proteins, cullins, SOCS-box proteins, and F-box proteins. Using Bayes' theorem to integrate information from multiple large-scale proteomic and transcriptomic datasets, we ranked these 377 E3 ligases with respect to their probability of interaction with AQP2. Application of Bayes' rule identified the E3 ligases most likely to interact with AQP2 as (in order of probability): NEDD4 and NEDD4L (tied for first), AMFR, STUB1, ITCH, ZFPL1. Significantly, the two E3 ligases tied for top rank have also been studied extensively in the reductionist literature as regulatory proteins in renal tubule epithelia. The concordance of conclusions from reductionist and systems-level data provides strong motivation for further studies of the roles of NEDD4 and NEDD4L in the regulation of AQP2 protein turnover. C1 [Medvar, Barbara; Raghuram, Viswanathan; Pisitkun, Trairak; Knepper, Mark A.] NHLBI, Epithelial Syst Biol Lab, NIH, Bethesda, MD USA. [Medvar, Barbara; Sarkar, Abhijit] Catholic Univ Amer, Vitreous State Lab, Washington, DC USA. [Pisitkun, Trairak] Chulalongkorn Univ, Fac Med, Syst Biol Ctr, Bangkok, Thailand. RP Knepper, MA (reprint author), NIH, Bldg 10,Rm 6N307,10 Ctr Dr,MSC-1603, Bethesda, MD 20892 USA. EM knepperm@nhlbi.nih.gov FU Chulalongkorn Academic Advancement into Its 2nd Century (CUAASC) Project; [HL-001285]; [HL-006129] FX The study was carried out in the Division of Intramural Research of the National Heart, Lung, and Blood Institute (Projects HL-001285 and HL-006129, M. A. Knepper). T. Pisitkun is supported by the Chulalongkorn Academic Advancement into Its 2nd Century (CUAASC) Project. NR 32 TC 3 Z9 3 U1 1 U2 2 PU AMER PHYSIOLOGICAL SOC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 1094-8341 EI 1531-2267 J9 PHYSIOL GENOMICS JI Physiol. Genomics PD JUL 1 PY 2016 VL 48 IS 7 BP 502 EP 512 DI 10.1152/physiolgenomics.00031.2016 PG 11 WC Cell Biology; Genetics & Heredity; Physiology SC Cell Biology; Genetics & Heredity; Physiology GA DS7ZA UT WOS:000381000800007 PM 27199454 ER PT J AU Carlin, DJ Naujokas, MF Bradham, KD Cowden, J Heacock, M Henry, HF Lee, JS Thomas, DJ Thompson, C Tokar, EJ Waalkes, MP Birnbaum, LS Suk, WA AF Carlin, Danielle J. Naujokas, Marisa F. Bradham, Karen D. Cowden, John Heacock, Michelle Henry, Heather F. Lee, Janice S. Thomas, David J. Thompson, Claudia Tokar, Erik J. Waalkes, Michael P. Birnbaum, Linda S. Suk, William A. TI Arsenic and Environmental Health: State of the Science and Future Research Opportunities SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Review ID DIFFERENTIAL DNA METHYLATION; UMBILICAL-CORD BLOOD; FATTY LIVER-DISEASE; DRINKING-WATER; RISK-ASSESSMENT; IN-UTERO; GUT MICROBIOME; RELATIVE BIOAVAILABILITY; REMEDIATION TECHNIQUES; 21ST-CENTURY ROADMAP AB BACKGROUND: Exposure to inorganic and organic arsenic compounds is a major public health problem that affects hundreds of millions of people worldwide. Exposure to arsenic is associated with cancer and noncancer effects in nearly every organ in the body, and evidence is mounting for health effects at lower levels of arsenic exposure than previously thought. Building from a tremendous knowledge base with > 1,000 scientific papers published annually with "arsenic" in the title, the question becomes, what questions would best drive future research directions? OBJECTIVES: The objective is to discuss emerging issues in arsenic research and identify data gaps across disciplines. METHODS: The National Institutes of Health's National Institute of Environmental Health Sciences Superfund Research Program convened a workshop to identify emerging issues and research needs to address the multi-faceted challenges related to arsenic and environmental health. This review summarizes information captured during the workshop. DISCUSSION: More information about aggregate exposure to arsenic is needed, including the amount and forms of arsenic found in foods. New strategies for mitigating arsenic exposures and related health effects range from engineered filtering systems to phytogenetics and nutritional interventions. Furthermore, integration of omics data with mechanistic and epidemiological data is a key step toward the goal of linking biomarkers of exposure and susceptibility to disease mechanisms and outcomes. Conclusions: Promising research strategies and technologies for arsenic exposure and adverse health effect mitigation are being pursued, and future research is moving toward deeper collaborations and integration of information across disciplines to address data gaps. C1 [Carlin, Danielle J.; Heacock, Michelle; Henry, Heather F.; Suk, William A.] NIEHS, Superfund Res Program, NIH, US Dept HHS, Res Triangle Pk, NC 27560 USA. [Naujokas, Marisa F.] MDB Inc, Durham, NC USA. [Bradham, Karen D.] US EPA, Human Exposure & Atmospher Sci Div, Natl Exposure Res Lab, Res Triangle Pk, NC 27711 USA. [Cowden, John] US EPA, Natl Ctr Computat Toxicol, ORD, Res Triangle Pk, NC 27711 USA. [Lee, Janice S.] US EPA, Natl Ctr Environm Assessment, ORD, Res Triangle Pk, NC 27711 USA. [Thomas, David J.] US EPA, Integrated Syst Toxicol Div, Natl Human & Environm Hlth Effects Res Lab, ORD, Res Triangle Pk, NC 27711 USA. [Thompson, Claudia] NIEHS, Populat Hlth Branch, NIH, US Dept HHS, Res Triangle Pk, NC 27560 USA. [Tokar, Erik J.; Waalkes, Michael P.; Birnbaum, Linda S.] NIEHS, Natl Toxicol Program, NIH, US Dept HHS, Res Triangle Pk, NC 27560 USA. [Birnbaum, Linda S.] NIEHS, NIH, US Dept HHS, Res Triangle Pk, NC 27560 USA. RP Carlin, DJ (reprint author), NIEHS, Div Extramural Res & Training, Hazardous Subst Res Branch, Superfund Res Program, Keystone Bldg,530 Davis Dr,POB 12233, Res Triangle Pk, NC 27560 USA. EM danielle.carlin@nih.gov FU NIH, NIEHS [ES-102925] FX This work was supported in part by the NIH, NIEHS, including grant ES-102925. NR 130 TC 6 Z9 6 U1 30 U2 41 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD JUL PY 2016 VL 124 IS 7 BP 890 EP 899 DI 10.1289/ehp.1510209 PG 10 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA DS4KF UT WOS:000380749300009 PM 26587579 ER PT J AU Mansouri, K Abdelaziz, A Rybacka, A Roncaglioni, A Tropsha, A Varnek, A Zakharov, A Worth, A Richard, AM Grulke, CM Trisciuzzi, D Fourches, D Horvath, D Benfenati, E Muratov, E Wedebye, EB Grisoni, F Mangiatordi, GF Incisivo, GM Hong, HX Ng, HW Tetko, IV Balabin, I Kancherla, J Shen, J Burton, J Nicklaus, M Cassotti, M Nikolov, NG Nicolotti, O Andersson, PL Zang, QD Politi, R Beger, RD Todeschini, R Huang, RL Farag, S Rosenberg, SA Slavov, S Hu, X Judson, RS AF Mansouri, Kamel Abdelaziz, Ahmed Rybacka, Aleksandra Roncaglioni, Alessandra Tropsha, Alexander Varnek, Alexandre Zakharov, Alexey Worth, Andrew Richard, Ann M. Grulke, Christopher M. Trisciuzzi, Daniela Fourches, Denis Horvath, Dragos Benfenati, Emilio Muratov, Eugene Wedebye, Eva Bay Grisoni, Francesca Mangiatordi, Giuseppe F. Incisivo, Giuseppina M. Hong, Huixiao Ng, Hui W. Tetko, Igor V. Balabin, Ilya Kancherla, Jayaram Shen, Jie Burton, Julien Nicklaus, Marc Cassotti, Matteo Nikolov, Nikolai G. Nicolotti, Orazio Andersson, Patrik L. Zang, Qingda Politi, Regina Beger, Richard D. Todeschini, Roberto Huang, Ruili Farag, Sherif Rosenberg, Sine A. Slavov, Svetoslav Hu, Xin Judson, Richard S. TI CERAPP: Collaborative Estrogen Receptor Activity Prediction Project SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Article ID ENDOCRINE-DISRUPTING CHEMICALS; COMPUTATIONAL TOXICOLOGY RESOURCE; QUANTITATIVE STRUCTURE-ACTIVITY; THROUGHPUT SCREENING ASSAYS; RELATIONSHIP QSDAR MODELS; ENVIRONMENTAL CHEMICALS; DECISION FOREST; PARTITION-COEFFICIENTS; BINARY CLASSIFICATION; BIOLOGICAL-ACTIVITY AB BACKGROUND: Humans are exposed to thousands of man-made chemicals in the environment. Some chemicals mimic natural endocrine hormones and, thus, have the potential to be endocrine disruptors. Most of these chemicals have never been tested for their ability to interact with the estrogen receptor (ER). Risk assessors need tools to prioritize chemicals for evaluation in costly in vivo tests, for instance, within the U.S. EPA Endocrine Disruptor Screening Program. OBJECTIVES: We describe a large-scale modeling project called CERAPP (Collaborative Estrogen Receptor Activity Prediction Project) and demonstrate the efficacy of using predictive computational models trained on high-throughput screening data to evaluate thousands of chemicals for ER-related activity and prioritize them for further testing. METHODS: CERAPP combined multiple models developed in collaboration with 17 groups in the United States and Europe to predict ER activity of a common set of 32,464 chemical structures. Quantitative structure-activity relationship models and docking approaches were employed, mostly using a common training set of 1,677 chemical structures provided by the U.S. EPA, to build a total of 40 categorical and 8 continuous models for binding, agonist, and antagonist ER activity. All predictions were evaluated on a set of 7,522 chemicals curated from the literature. To overcome the limitations of single models, a consensus was built by weighting models on scores based on their evaluated accuracies. RESULTS: Individual model scores ranged from 0.69 to 0.85, showing high prediction reliabilities. Out of the 32,464 chemicals, the consensus model predicted 4,001 chemicals (12.3%) as high priority actives and 6,742 potential actives (20.8%) to be considered for further testing. CONCLUSION: This project demonstrated the possibility to screen large libraries of chemicals using a consensus of different in silico approaches. This concept will be applied in future projects related to other end points. C1 [Mansouri, Kamel; Richard, Ann M.; Grulke, Christopher M.; Kancherla, Jayaram; Judson, Richard S.] US EPA, Natl Ctr Computat Toxicol, 109 TW Alexander Dr, Res Triangle Pk, NC 27711 USA. [Mansouri, Kamel] Oak Ridge Inst Sci & Educ, Oak Ridge, TN USA. [Abdelaziz, Ahmed; Tetko, Igor V.] German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Muenchen, Inst Struct Biol, Neuherberg, Germany. [Rybacka, Aleksandra; Andersson, Patrik L.] Umea Univ, Dept Chem, Umea, Sweden. [Roncaglioni, Alessandra; Benfenati, Emilio; Incisivo, Giuseppina M.] Ist Ric Farmacol Mario Negri, IRCCS, Environm Chem & Toxicol Lab, Milan, Italy. [Tropsha, Alexander; Fourches, Denis; Muratov, Eugene; Politi, Regina; Farag, Sherif] Univ North Carolina Chapel Hill, Lab Mol Modeling, Chapel Hill, NC USA. [Varnek, Alexandre; Horvath, Dragos] Univ Strasbourg, Lab Chemoinformat, Strasbourg, France. [Zakharov, Alexey; Nicklaus, Marc] NCI, NIH, US Dept HHS, Bethesda, MD 20892 USA. [Worth, Andrew; Burton, Julien] European Commiss Ispra, Joint Res Ctr, IHCP, Ispra, Italy. [Trisciuzzi, Daniela; Mangiatordi, Giuseppe F.; Nicolotti, Orazio] Univ Bari, Dept Pharmacy Drug Sci, Bari, Italy. [Wedebye, Eva Bay; Nikolov, Nikolai G.; Rosenberg, Sine A.] Tech Univ Denmark, Natl Food Inst, Div Toxicol & Risk Assessment, Copenhagen, Denmark. [Grisoni, Francesca; Cassotti, Matteo; Todeschini, Roberto] Univ Milano Bicocca, Milano Chemometr & QSAR Res Grp, Milan, Italy. [Hong, Huixiao; Ng, Hui W.] US FDA, Div Bioinformat & Biostat, Natl Ctr Toxicol Res, USDA, Jefferson, AZ USA. [Tetko, Igor V.] BigChem GmbH, Neuherberg, Germany. [Balabin, Ilya] Lockheed Martin, High Performance Comp, Res Triangle Pk, NC USA. [Shen, Jie] Res Inst Fragrance Mat Inc, Woodcliff Lake, NJ USA. [Zang, Qingda; Slavov, Svetoslav] Integrated Lab Syst Inc, Res Triangle Pk, NC USA. [Beger, Richard D.] USDA, Div Syst Biol, Natl Ctr Toxicol Res, Jefferson, AZ USA. [Huang, Ruili; Hu, Xin] NIH, Natl Ctr Adv Translat Sci, DHHS, Bldg 10, Bethesda, MD 20892 USA. RP Judson, RS (reprint author), US EPA, Natl Ctr Computat Toxicol, 109 TW Alexander Dr, Res Triangle Pk, NC 27711 USA. EM judson.richard@epa.gov RI Tetko, Igor/B-1540-2010; Varnek, Alexandre/E-7076-2017; Kancherla, Jayaram/P-7756-2015; OI Tetko, Igor/0000-0002-6855-0012; Varnek, Alexandre/0000-0003-1886-925X; Kancherla, Jayaram/0000-0001-5855-5031; Mansouri, Kamel/0000-0002-6426-8036 FU NIGMS NIH HHS [T32 GM067553] NR 101 TC 17 Z9 17 U1 13 U2 15 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD JUL PY 2016 VL 124 IS 7 BP 1023 EP 1033 DI 10.1289/ehp.1510267 PG 11 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA DS4KF UT WOS:000380749300025 PM 26908244 ER PT J AU Leung, MCK Phuong, J Baker, NC Sipes, NS Klinefelter, GR Martin, MT McLaurin, KW Setzer, RW Darney, SP Judson, RS Knudsen, TB AF Leung, Maxwell C. K. Phuong, Jimmy Baker, Nancy C. Sipes, Nisha S. Klinefelter, Gary R. Martin, Matthew T. McLaurin, Keith W. Setzer, R. Woodrow Darney, Sally Perreault Judson, Richard S. Knudsen, Thomas B. TI Systems Toxicology of Male Reproductive Development: Profiling 774 Chemicals for Molecular Targets and Adverse Outcomes SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Article ID TESTICULAR DYSGENESIS SYNDROME; INTERLEUKIN-6 SIGNAL BLOCKADE; GERM-CELL DIFFERENTIATION; RECEPTOR TYROSINE KINASE; GENOME-WIDE ASSOCIATION; LARGE GENE LISTS; FETAL TESTIS; DI(N-BUTYL) PHTHALATE; NUCLEAR RECEPTORS; DIETHYLHEXYL PHTHALATE AB BACKGROUND: Trends in male reproductive health have been reported for increased rates of testicular germ cell tumors, low semen quality, cryptorchidism, and hypospadias, which have been associated with prenatal environmental chemical exposure based on human and animal studies. OBJECTIVE: In the present study we aimed to identify significant correlations between environmental chemicals, molecular targets, and adverse outcomes across a broad chemical landscape with emphasis on developmental toxicity of the male reproductive system. METHODS: We used U.S. EPA's animal study database (ToxRefDB) and a comprehensive literature analysis to identify 774 chemicals that have been evaluated for adverse effects on male reproductive parameters, and then used U.S. EPA's in vitro high-throughput screening (HTS) database (ToxCastDB) to profile their bioactivity across approximately 800 molecular and cellular features. RESULTS: A phenotypic hierarchy of testicular atrophy, sperm effects, tumors, and malformations, a composite resembling the human testicular dysgenesis syndrome (TDS) hypothesis, was observed in 281 chemicals. A subset of 54 chemicals with male developmental consequences had in vitro bioactivity on molecular targets that could be condensed into 156 gene annotations in a bipartite network. CONCLUSION: Computational modeling of available in vivo and in vitro data for chemicals that produce adverse effects on male reproductive end points revealed a phenotypic hierarchy across animal studies consistent with the human TDS hypothesis. We confirmed the known role of estrogen and androgen signaling pathways in rodent TDS, and importantly, broadened the list of molecular targets to include retinoic acid signaling, vascular remodeling proteins, G-protein coupled receptors (GPCRs), and cytochrome P450s. C1 [Leung, Maxwell C. K.; Sipes, Nisha S.; McLaurin, Keith W.] Oak Ridge Inst Sci & Educ, Oak Ridge, TN USA. [Leung, Maxwell C. K.; Phuong, Jimmy; Sipes, Nisha S.; Martin, Matthew T.; McLaurin, Keith W.; Setzer, R. Woodrow; Judson, Richard S.; Knudsen, Thomas B.] US EPA, Natl Ctr Computat Toxicol, Res Triangle Pk, NC 27711 USA. [Baker, Nancy C.] Lockheed Martin, Res Triangle Pk, NC USA. [Klinefelter, Gary R.; Darney, Sally Perreault] US EPA, Natl Hlth & Environm Effects Res Lab, Res Triangle Pk, NC 27711 USA. [Darney, Sally Perreault] NIEHS, Environm Hlth Perspect, NIH, US Dept HHS, POB 12233, Res Triangle Pk, NC 27709 USA. RP Leung, MCK; Knudsen, TB (reprint author), US EPA, 109 TW Alexander Dr, Res Triangle Pk, NC 27711 USA. EM leung.max-well@epa.gov; knudsen.thomas@epa.gov OI Leung, Maxwell/0000-0003-1530-3306 NR 98 TC 2 Z9 2 U1 8 U2 12 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD JUL PY 2016 VL 124 IS 7 BP 1050 EP 1061 DI 10.1289/ehp.1510385 PG 12 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA DS4KF UT WOS:000380749300028 PM 26662846 ER PT J AU Larson, CL Martinez, E Beare, PA Jeffrey, B Heinzen, RA Bonazzi, M AF Larson, Charles L. Martinez, Eric Beare, Paul A. Jeffrey, Brendan Heinzen, Robert A. Bonazzi, Matteo TI Right on Q: genetics begin to unravel Coxiella burnetii host cell interactions SO FUTURE MICROBIOLOGY LA English DT Review DE apoptosis; autophagy; Coxiella burnetii; effector protein; host cell invasion; macrophages; mutagenesis; phagolysosome; type 4B secretion; vacuole remodeling ID IV SECRETION SYSTEM; CLATHRIN-MEDIATED ENDOCYTOSIS; PNEUMOPHILA DOT/ICM SYSTEM; RESPONSE REGULATOR PMRA; Q-FEVER; LEGIONELLA-PNEUMOPHILA; PHASE-II; EFFECTOR PROTEIN; INTRACELLULAR REPLICATION; ANTIAPOPTOTIC ACTIVITY AB Invasion of macrophages and replication within an acidic and degradative phagolysosome-like vacuole are essential for disease pathogenesis by Coxiella burnetii, the bacterial agent of human Q fever. Previous experimental constraints imposed by the obligate intracellular nature of Coxiella limited knowledge of pathogen strategies that promote infection. Fortunately, new genetic tools facilitated by axenic culture now allow allelic exchange and transposon mutagenesis approaches for virulence gene discovery. Phenotypic screens have illuminated the critical importance of Coxiella's type 4B secretion system in host cell subversion and discovered genes encoding translocated effector proteins that manipulate critical infection events. Here, we highlight the cellular microbiology and genetics of Coxiella and how recent technical advances now make Coxiella a model organism to study macrophage parasitism. C1 [Larson, Charles L.; Beare, Paul A.; Heinzen, Robert A.] NIAID, Coxiella Pathogenesis Sect, Bacteriol Lab, Rocky Mt Labs,NIH, 903 South 4th St, Hamilton, MT 59840 USA. [Martinez, Eric; Bonazzi, Matteo] CNRS, FRE3698, CPBS, 1919 Route Mende, F-34293 Montpellier, France. [Martinez, Eric; Bonazzi, Matteo] Univ Montpellier, Montpellier, France. [Jeffrey, Brendan] NIAID, Bioinformat & Computat Biosci Branch, Rocky Mt Labs, NIH, 903 South 4th St, Hamilton, MT 59840 USA. RP Heinzen, RA (reprint author), NIAID, Coxiella Pathogenesis Sect, Bacteriol Lab, Rocky Mt Labs,NIH, 903 South 4th St, Hamilton, MT 59840 USA. EM rheinzen@niaid.nih.gov FU Intramural Research Program of the NIH, National Institute of Allergy and Infectious Diseases; Agence Nationale de la Recherche (ANR) [ANR-14-CE14-0012-01]; ERA-NET Infect-ERA [ANR-13-IFEC-0003]; ATIP-AVENIR programme FX This work was supported by the Intramural Research Program of the NIH, National Institute of Allergy and Infectious Diseases (RA Heinzen) and by grants from the Agence Nationale de la Recherche (ANR) (ANR-14-CE14-0012-01; Project AttaQ), ERA-NET Infect-ERA (ANR-13-IFEC-0003; Project EUGENPATH) and the ATIP-AVENIR programme (M Bonazzi). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. NR 155 TC 2 Z9 2 U1 1 U2 3 PU FUTURE MEDICINE LTD PI LONDON PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3 1QB, ENGLAND SN 1746-0913 EI 1746-0921 J9 FUTURE MICROBIOL JI Future Microbiol. PD JUL PY 2016 VL 11 IS 7 BP 919 EP 939 DI 10.2217/fmb-2016-0044 PG 21 WC Microbiology SC Microbiology GA DS8LB UT WOS:000381033700008 PM 27418426 ER PT J AU Alexander-Bloch, A Clasen, L Stockman, M Ronan, L Lalonde, F Giedd, J Raznahan, A AF Alexander-Bloch, Aaron Clasen, Liv Stockman, Michael Ronan, Lisa Lalonde, Francois Giedd, Jay Raznahan, Armin TI Subtle In-Scanner Motion Biases Automated Measurement of Brain Anatomy From In Vivo MRI SO HUMAN BRAIN MAPPING LA English DT Article DE functional neuroimaging; magnetic resonance imaging; motion; bias; cortical thickness; cortical surface area; cortical curvature ID FMRI TIME-SERIES; HUMAN CEREBRAL-CORTEX; FUNCTIONAL CONNECTIVITY MRI; MAGNETIC-RESONANCE IMAGES; SURFACE-BASED ANALYSIS; HEAD MOTION; NAVIGATOR ECHOES; GEOMETRICALLY ACCURATE; ADAPTIVE TECHNIQUE; MOVING STRUCTURES AB While the potential for small amounts of motion in functional magnetic resonance imaging (fMRI) scans to bias the results of functional neuroimaging studies is well appreciated, the impact of in-scanner motion on morphological analysis of structural MRI is relatively under-studied. Even among "good quality" structural scans, there may be systematic effects of motion on measures of brain morphometry. In the present study, the subjects' tendency to move during fMRI scans, acquired in the same scanning sessions as their structural scans, yielded a reliable, continuous estimate of in-scanner motion. Using this approach within a sample of 127 children, adolescents, and young adults, significant relationships were found between this measure and estimates of cortical gray matter volume and mean curvature, as well as trend-level relationships with cortical thickness. Specifically, cortical volume and thickness decreased with greater motion, and mean curvature increased. These effects of subtle motion were anatomically heterogeneous, were present across different automated imaging pipelines, showed convergent validity with effects of frank motion assessed in a separate sample of 274 scans, and could be demonstrated in both pediatric and adult populations. Thus, using different motion assays in two large non-overlapping sets of structural MRI scans, convergent evidence showed that in-scanner motion-even at levels which do not manifest in visible motion artifact-can lead to systematic and regionally specific biases in anatomical estimation. These findings have special relevance to structural neuroimaging in developmental and clinical datasets, and inform ongoing efforts to optimize neuroanatomical analysis of existing and future structural MRI datasets in non-sedated humans. (C) 2016 Wiley Periodicals, Inc. C1 [Alexander-Bloch, Aaron; Clasen, Liv; Stockman, Michael; Lalonde, Francois; Raznahan, Armin] NIMH, Dev Neurogen Unit, Child Psychiat Branch, 10 Ctr Dr,Bldg 10,Room 4D18, Bethesda, MD 20892 USA. [Alexander-Bloch, Aaron] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06508 USA. [Ronan, Lisa] Univ Cambridge, Brain Mapping Unit, Cambridge, England. [Giedd, Jay] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92093 USA. RP Raznahan, A (reprint author), NIMH, Dev Neurogen Unit, Child Psychiat Branch, 10 Ctr Dr,Bldg 10,Room 4D18, Bethesda, MD 20892 USA. EM raznahana@mail.nih.gov FU Intramural NIH HHS [Z99 MH999999] NR 62 TC 5 Z9 5 U1 0 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1065-9471 EI 1097-0193 J9 HUM BRAIN MAPP JI Hum. Brain Mapp. PD JUL PY 2016 VL 37 IS 7 BP 2385 EP 2397 DI 10.1002/hbm.23180 PG 13 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA DU8TV UT WOS:000382488800002 PM 27004471 ER PT J AU Smith, E Thurm, A Greenstein, D Farmer, C Swedo, S Giedd, J Raznahan, A AF Smith, Elizabeth Thurm, Audrey Greenstein, Deanna Farmer, Cristan Swedo, Susan Giedd, Jay Raznahan, Armin TI Cortical Thickness Change in Autism During Early Childhood SO HUMAN BRAIN MAPPING LA English DT Article DE autism spectrum disorder; cortical thickness; surface based morphometry; expressive language; MRI ID LANGUAGE-ASSOCIATION CORTEX; SPECTRUM DISORDERS; WHITE-MATTER; GRAY-MATTER; LONGITUDINAL CHANGES; BRAIN MATURATION; YOUNG ADULTHOOD; CEREBRAL-CORTEX; MOTOR CORTEX; SURFACE-AREA AB Structural magnetic resonance imaging (MRI) scans at high spatial resolution can detect potential foci of early brain dysmaturation in children with autism spectrum disorders (ASD). In addition, comparison between MRI and behavior measures over time can identify patterns of brain change accompanying specific outcomes. We report structural MRI data from two time points for a total of 84 scans in children with ASD and 30 scans in typical controls (mean age time one = 4.1 years, mean age at time two - 6.6 years). Surface-based cortical morphometry and linear mixed effects models were used to link changes in cortical anatomy to both diagnostic status and individual differences in changes in language and autism severity. Compared with controls, children with ASD showed accelerated gray matter volume gain with age, which was driven by a lack of typical age-related cortical thickness (CT) decrease within 10 cortical regions involved in language, social cognition, and behavioral control. Greater expressive communication gains with age in children with ASD were associated with greater CT gains in a set of right hemisphere homologues to dominant language cortices, potentially identifying a compensatory system for closer translational study. (C) 2016 Wiley Periodicals, Inc. C1 [Smith, Elizabeth; Thurm, Audrey; Farmer, Cristan; Swedo, Susan] NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA. [Greenstein, Deanna; Raznahan, Armin] NIMH, Child Psychiat Branch, Bethesda, MD 20892 USA. [Giedd, Jay] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA. RP Smith, E (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA. EM elizabeth.smith3@nih.gov FU Intramural NIH HHS [ZIA MH002914-08]; NIMH NIH HHS [ZIA MH002914] NR 87 TC 2 Z9 2 U1 19 U2 21 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1065-9471 EI 1097-0193 J9 HUM BRAIN MAPP JI Hum. Brain Mapp. PD JUL PY 2016 VL 37 IS 7 BP 2616 EP 2629 DI 10.1002/hbm.23195 PG 14 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA DU8TV UT WOS:000382488800019 PM 27061356 ER PT J AU Merlino, G Herlyn, M Fisher, DE Bastian, BC Flaherty, KT Davies, MA Wargo, JA Curiel-Lewandrowski, C Weber, MJ Leachman, SA Soengas, MS McMahon, M Harbour, JW Swetter, SM Aplin, AE Atkins, MB Bosenberg, MW Dummer, R Gershenwald, JE Halpern, AC Herlyn, D Karakousis, GC Kirkwood, JM Krauthammer, M Lo, RS Long, GV McArthur, G Ribas, A Schuchter, L Sosman, JA Smalley, KS Steeg, P Thomas, NE Tsao, H Tueting, T Weeraratna, A Xu, G Lomax, R Martin, A Silverstein, S Turnham, T Ronai, ZA AF Merlino, Glenn Herlyn, Meenhard Fisher, David E. Bastian, Boris C. Flaherty, Keith T. Davies, Michael A. Wargo, Jennifer A. Curiel-Lewandrowski, Clara Weber, Michael J. Leachman, Sancy A. Soengas, Maria S. McMahon, Martin Harbour, J. William Swetter, Susan M. Aplin, Andrew E. Atkins, Michael B. Bosenberg, Marcus W. Dummer, Reinhard Gershenwald, Jeffrey E. Halpern, Allan C. Herlyn, Dorothee Karakousis, Giorgos C. Kirkwood, John M. Krauthammer, Michael Lo, Roger S. Long, Georgina V. McArthur, Grant Ribas, Antoni Schuchter, Lynn Sosman, Jeffrey A. Smalley, Keiran S. Steeg, Patricia Thomas, Nancy E. Tsao, Hensin Tueting, Thomas Weeraratna, Ashani Xu, George Lomax, Randy Martin, Alison Silverstein, Steve Turnham, Tim Ronai, Ze'ev A. TI The state of melanoma: challenges and opportunities SO PIGMENT CELL & MELANOMA RESEARCH LA English DT Article DE melanoma; prevention; early diagnosis; metastasis; dormancy; therapy AB The Melanoma Research Foundation (MRF) has charted a comprehensive assessment of the current state of melanoma research and care. Intensive discussions among members of the MRF Scientific Advisory Council and Breakthrough Consortium, a group that included clinicians and scientists, focused on four thematic areas diagnosis/early detection, prevention, tumor cell dormancy (including metastasis), and therapy (response and resistance). These discussions extended over the course of 2015 and culminated at the Society of Melanoma Research 2015 International Congress in November. Each of the four groups has outlined their thoughts as per the current status, challenges, and opportunities in the four respective areas. The current state and immediate and longterm needs of the melanoma field, from basic research to clinical management, are presented in the following report. C1 [Merlino, Glenn] NCI, Lab Canc Biol & Genet, Ctr Canc Res, Bethesda, MD 20892 USA. [Herlyn, Meenhard; Herlyn, Dorothee; Weeraratna, Ashani] Wistar Inst Anat & Biol, Melanoma Res Ctr, 3601 Spruce St, Philadelphia, PA 19104 USA. [Fisher, David E.] Massachusetts Gen Hosp, Dept Dermatol, Cutaneous Biol Res Ctr, Charlestown, MA USA. [Bastian, Boris C.] Univ Calif San Francisco, Dept Dermatol, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA 94143 USA. [Bastian, Boris C.] Univ Calif San Francisco, Dept Pathol, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA 94140 USA. [Flaherty, Keith T.] Massachusetts Gen Hosp, Dev Therapeut, Ctr Canc, Charlestown, MA USA. [Davies, Michael A.; Wargo, Jennifer A.; Gershenwald, Jeffrey E.] Univ Texas MD Anderson Canc Ctr, Dept Genom Med & Surg Oncol, Houston, TX 77030 USA. [Curiel-Lewandrowski, Clara] Univ Arizona, Ctr Canc, Dept Med, Tucson, AZ USA. [Curiel-Lewandrowski, Clara] Univ Arizona, Ctr Canc, Dept Dermatol, Tucson, AZ USA. [Weber, Michael J.] Univ Virginia, Sch Med, Dept Microbiol Immunol & Canc Biol, Charlottesville, VA 22908 USA. [Leachman, Sancy A.] Oregon Hlth & Sci Univ, Dept Dermatol, Knight Canc Inst, Melanoma & Skin Canc Program, Portland, OR USA. [Soengas, Maria S.] CNIO, Mol Oncol Program, Melanoma Lab, Madrid, Spain. [McMahon, Martin] Huntsman Canc Inst, Dept Dermatol, Salt Lake City, UT USA. [Harbour, J. William] Univ Miami, Bascom Palmer Eye Inst, Miami, FL USA. [Harbour, J. William] Univ Miami, Sylvester Comprehens Canc Ctr, Miami, FL USA. [Swetter, Susan M.] Stanford Univ, Med Ctr, Dept Dermatol, Palo Alto, CA 94304 USA. [Swetter, Susan M.] VA Palo Alto Hlth Care Syst, Inst Canc, Palo Alto, CA USA. [Aplin, Andrew E.] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Philadelphia, PA 19107 USA. [Atkins, Michael B.] Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA. [Bosenberg, Marcus W.] Yale Univ, Ctr Canc, Dept Dermatol & Dermatopathol, New Haven, CT USA. [Dummer, Reinhard] Univ Zurich, Dept Dermatol, Zurich, Switzerland. [Halpern, Allan C.] Mem Sloan Kettering Canc Ctr, Dermatol, 1275 York Ave, New York, NY 10021 USA. [Karakousis, Giorgos C.; Schuchter, Lynn; Xu, George] Univ Penn, Abramson Canc Ctr, Philadelphia, PA 19104 USA. [Kirkwood, John M.] Univ Pittsburgh, Melanoma & Skin Canc Program, Pittsburgh, PA USA. [Krauthammer, Michael] Yale Univ, Dept Pathol, Ctr Canc, New Haven, CT USA. [Lo, Roger S.; Ribas, Antoni] Univ Calif Los Angeles, Dept Med Oncol & Dermatol, Los Angeles, CA USA. [Long, Georgina V.] Univ Sydney, Melanoma Inst, Sydney, NSW, Australia. [McArthur, Grant] Peter MacCallum Canc Ctr, Dept Canc Med, East Melbourne, Vic, Australia. [Sosman, Jeffrey A.] Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Dept Med, Nashville, TN 37212 USA. [Smalley, Keiran S.] H Lee Moffitt Canc Ctr & Res Inst, Dept Tumor Biol, Tampa, FL USA. [Steeg, Patricia] NCI, Women Malignancies Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [Thomas, Nancy E.] Univ N Carolina, Melanoma Program, Dept Dermatol, Lineberger Canc Ctr, Chapel Hill, NC USA. [Tsao, Hensin] Massachusetts Gen Hosp, Melanoma & Pigmented Lesion Ctr, Charlestown, MA USA. [Tueting, Thomas] Univ Bonn, Dept Dermatol, Bonn, Germany. [Lomax, Randy; Martin, Alison; Silverstein, Steve; Turnham, Tim] Melanoma Res Fdn, Washington, DC USA. [Ronai, Ze'ev A.] Sanford Burnham Prebys Med Discovery Inst, Tumor Initiat & Maintenance Program, La Jolla, CA 92037 USA. RP Ronai, ZA (reprint author), Sanford Burnham Prebys Med Discovery Inst, Tumor Initiat & Maintenance Program, La Jolla, CA 92037 USA. EM ronai@SBPdiscovery.org FU NCI NIH HHS [P30 CA016672, P30 CA010815, P50 CA121973]; NIAMS NIH HHS [R01 AR043369] NR 0 TC 6 Z9 6 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1755-1471 EI 1755-148X J9 PIGM CELL MELANOMA R JI Pigment Cell Melanoma Res. PD JUL PY 2016 VL 29 IS 4 BP 404 EP 416 DI 10.1111/pcmr.12475 PG 13 WC Oncology; Cell Biology; Dermatology SC Oncology; Cell Biology; Dermatology GA DT2IC UT WOS:000381303000005 PM 27087480 ER PT J AU George, AL Boulanger, CA Smith, GH AF George, Andrea L. Boulanger, Corinne A. Smith, Gilbert H. TI Telomerase and estrogen-sensing activities are essential for continued mammary growth in vivo but dispensable for "reprogramming" neural stem cells SO AGING-US LA English DT Article DE telomeres; mammary; senescence; stem cells ID EPITHELIAL-CELLS; LIFE-SPAN; TRANSFORMING GROWTH-FACTOR-BETA-1; SERIAL TRANSPLANTATION; TGF-BETA-1 EXPRESSION; RECEPTOR-ALPHA; IMMORTAL CELLS; DEFICIENT MICE; MOUSE; GLAND AB It has been proposed that the erosion of telomere length is a limiting factor in replicative capacity and important in cell senescence. To determine if this activity was essential in the mouse mammary gland in vivo, we serially transplanted mammary fragments from wild type (TER+/+), heterozygous (TER+/-), and homozygous (TER-/-) mammary tissues into the cleared mammary fat pads of immune-compromised nude mice. Individual implants from both homozygous and heterozygous TER null outgrowths showed growth senescence beginning at transplant generation two, earlier than implants from TER+/+ mammary glands which continued to show growth. This result suggests that either mammary epithelial stem cells maintain their telomere length in order to self renew, or that the absence or reduction of telomerase template results in more frequent death/extinction of stem cells during symmetric divisions. A third possibility is the inability of signaling cells in the niche to replicate resulting in reduction of the maintenance signals necessary for stem cell renewal. Consistent with this, examination of senescent outgrowths revealed the absence of estrogen receptor alpha (ER alpha(+)) epithelium although progesterone receptor (PR+) cells were abundant. Despite their inability to establish mammary growth in vivo, TER+/- cells were able to direct neural stem cells to mammary cell fates. C1 [George, Andrea L.; Boulanger, Corinne A.; Smith, Gilbert H.] NCI, Basic Res Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Smith, GH (reprint author), NCI, Basic Res Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM gs4d@nih.gov FU intramural research program of the Center for Cancer Research NCI, NIH FX The intramural research program of the Center for Cancer Research NCI, NIH, supported this work. NR 45 TC 0 Z9 0 U1 3 U2 3 PU IMPACT JOURNALS LLC PI ALBANY PA 6211 TIPTON HOUSE, STE 6, ALBANY, NY 12203 USA SN 1945-4589 J9 AGING-US JI Aging-US PD JUL PY 2016 VL 8 IS 7 BP 1353 EP 1363 DI 10.18632/aging.100985 PG 11 WC Cell Biology SC Cell Biology GA DU1DV UT WOS:000381949300008 PM 27347776 ER PT J AU Arrigoni, F Peruzzo, D Gagliardi, C Maghini, C Colombo, P Iammarrone, FS Pierpaoli, C Triulzi, F Turconi, AC AF Arrigoni, F. Peruzzo, D. Gagliardi, C. Maghini, C. Colombo, P. Iammarrone, F. Servodio Pierpaoli, C. Triulzi, F. Turconi, A. C. TI Whole-Brain DTI Assessment of White Matter Damage in Children with Bilateral Cerebral Palsy: Evidence of Involvement beyond the Primary Target of the Anoxic Insult SO AMERICAN JOURNAL OF NEURORADIOLOGY LA English DT Article ID GROSS MOTOR FUNCTION; PERIVENTRICULAR LEUKOMALACIA; CLASSIFICATION-SYSTEM; FIBER-TRACKING; BORN PRETERM; TRACTOGRAPHY; INJURY; IMPAIRMENT; TRACTS; ANISOTROPY AB BACKGROUND AND PURPOSE: Cerebral palsy is frequently associated with both motor and nonmotor symptoms. DTI can characterize the damage at the level of motor tracts but provides less consistent results in nonmotor areas. We used a standardized pipeline of analysis to describe and quantify the pattern of DTI white matter abnormalities of the whole brain in a group of children with chronic bilateral cerebral palsy and periventricular leukomalacia. We also explored potential correlations between DTI and clinical scale metrics. MATERIALS AND METHODS: Twenty-five patients (mean age, 11.8 years) and 25 healthy children (mean age, 11.8 years) were studied at 3T with a 2-mm isotropic DTI sequence. Differences between patients and controls were assessed both voxelwise and in ROIs obtained from an existing DTI atlas. Clinical metrics included the Gross Motor Function Classification System, the Manual Ability Classification System, and intelligence quotient. RESULTS: The voxel-level and ROI-level analyses demonstrated highly significant (P < .001) modifications of DTI measurements in patients at several levels: cerebellar peduncles, corticospinal tracts and posterior thalamic radiations, posterior corpus callosum, external capsule, anterior thalamic radiation, superior longitudinal fasciculi and corona radiata, optic nerves, and chiasm. The reduction of fractional anisotropy values in significant tracts was between 8% and 30%. Statistically significant correlations were found between motor impairment and fractional anisotropy in corticospinal tracts and commissural and associative tracts of the supratentorial brain. CONCLUSIONS: We demonstrated the involvement of several motor and nonmotor areas in the chronic damage associated with periventricular leukomalacia and showed new correlations between motor skills and DTI metrics. C1 [Arrigoni, F.; Peruzzo, D.] Sci Inst IRCCS Eugenio Medea, Neuroimaging Lab, Bosisio Parini, Italy. [Gagliardi, C.; Maghini, C.; Iammarrone, F. Servodio; Turconi, A. C.] Sci Inst IRCCS Eugenio Medea, Funct Neurorehabil Unit, Bosisio Parini, Italy. [Colombo, P.] Sci Inst IRCCS Eugenio Medea, Child Psychopathol Unit, Bosisio Parini, Italy. [Pierpaoli, C.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Triulzi, F.] Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Dept Neuroradiol, Milan, Italy. RP Arrigoni, F (reprint author), Sci Inst IRCCS Eugenio Medea, Via Don L Monza 20, I-23842 Bosisio Parini, Lecco, Italy. EM filippo.arrigoni@bp.lnf.it RI ARRIGONI, FILIPPO/G-5828-2011; OI ARRIGONI, FILIPPO/0000-0002-5508-1149; Gagliardi, Chiara/0000-0001-9931-9879 FU Italian Ministry of Health FX This work was supported by the Italian Ministry of Health (Ricerca Corrente 2012 to A.C. Turconi). NR 36 TC 0 Z9 0 U1 0 U2 1 PU AMER SOC NEURORADIOLOGY PI DENVILLE PA PO BOX 3000, DENVILLE, NJ 07834-9349 USA SN 0195-6108 EI 1936-959X J9 AM J NEURORADIOL JI Am. J. Neuroradiol. PD JUL PY 2016 VL 37 IS 7 BP 1347 EP 1353 DI 10.3174/ajnr.A4717 PG 7 WC Clinical Neurology; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA DS1NL UT WOS:000380362600024 PM 26988814 ER PT J AU Sigurdson, AJ Brenner, AV Roach, JA Goudeva, L Muller, JA Nerlich, K Reiners, C Schwab, R Pfeiffer, L Waldenberger, M Braganza, M Xu, L Sturgis, EM Yeager, M Chanock, SJ Pfeiffer, RM Abend, M Port, M AF Sigurdson, Alice J. Brenner, Alina V. Roach, James A. Goudeva, Lilia Mueller, Joerg A. Nerlich, Kai Reiners, Christoph Schwab, Robert Pfeiffer, Liliane Waldenberger, Melanie Braganza, Melissa Xu, Li Sturgis, Erich M. Yeager, Meredith Chanock, Stephen J. Pfeiffer, Ruth M. Abend, Michael Port, Matthias TI Selected single-nucleotide polymorphisms in FOXE1, SERPINA5, FTO, EVPL, TICAM1 and SCARB1 are associated with papillary and follicular thyroid cancer risk: replication study in a German population SO CARCINOGENESIS LA English DT Article ID COMMON GENETIC-VARIANTS; CUMULATIVE RISK; POOLED ANALYSIS; OVARIAN-CANCER; UNITED-STATES; CARCINOMA; OBESITY; SUSCEPTIBILITY; DETERMINANT; RADIATION AB We confirmed associations with papillary thyroid cancer risk and several FOXE1/HEMGN polymorphisms, as well as polymorphisms in SERPINA5, FTO, EVPL, TICAM1 and SCARB1. Polymorphisms in FOXE1, SERPINA5, FTO, TICAM1 and HSPA6 were also associated with risk of follicular thyroid cancer.Several single-nucleotide polymorphisms (SNPs) have been associated with papillary and follicular thyroid cancer (PTC and FTC, respectively) risk, but few have replicated. After analyzing 17525 tag SNPs in 1129 candidate genes, we found associations with PTC risk in SERPINA5, FTO, HEMGN (near FOXE1) and other genes. Here, we report results from a replication effort in a large independent PTC/FTC case-control study conducted in Germany. We evaluated the best tagging SNPs from our previous PTC study and additionally included SNPs in or near FOXE1 and NKX2-1 genes, known susceptibility loci for thyroid cancer. We genotyped 422 PTC and 130 FTC cases and 752 controls recruited from three German clinical centers. We used polytomous logistic regression to simultaneously estimate PTC and FTC associations for 79 SNPs based on log-additive models. We assessed effect modification by body mass index (BMI), gender and age for all SNPs, and selected SNP by SNP interactions. We confirmed associations with PTC and SNPs in FOXE1/HEMGN, SERPINA5 (rs2069974), FTO (rs8047395), EVPL (rs2071194), TICAM1 (rs8120) and SCARB1 (rs11057820) genes. We found associations with SNPs in FOXE1, SERPINA5, FTO, TICAM1 and HSPA6 and FTC. We found two significant interactions between FTO (rs8047395) and BMI (P = 0.0321) and between TICAM1 (rs8120) and FOXE1 (rs10984377) (P = 0.0006). Besides the known associations with FOXE1 SNPs, we confirmed additional PTC SNP associations reported previously. We also found several new associations with FTC risk and noteworthy interactions. We conclude that multiple variants and host factors might interact in complex ways to increase risk of PTC and FTC. C1 [Sigurdson, Alice J.; Brenner, Alina V.; Roach, James A.; Braganza, Melissa] NCI, Radiat Epidemiol Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Goudeva, Lilia] Hannover Med Sch, Dept Transfus Med, Hannover, Germany. [Mueller, Joerg A.] Hannover Med Sch, Dept Nucl Med, Hannover, Germany. [Nerlich, Kai; Reiners, Christoph] Univ Hosp Wurzburg, Dept Nucl Med, Wurzburg, Germany. [Schwab, Robert] Fed Armed Forces Hosp, Dept Surg, Koblenz, Germany. [Pfeiffer, Liliane; Waldenberger, Melanie] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, Neuherberg, Germany. [Pfeiffer, Liliane; Waldenberger, Melanie] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 2, Neuherberg, Germany. [Xu, Li; Sturgis, Erich M.] Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, Houston, TX 77030 USA. [Yeager, Meredith; Chanock, Stephen J.] NCI, Lab Translat Genet, Bethesda, MD 20892 USA. [Pfeiffer, Ruth M.] NCI, Biostat Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Abend, Michael] Univ Ulm, Bundeswehr Inst Radiobiol, Neuherbergstr 11, D-80937 Munich, Germany. [Port, Matthias] Hannover Med Sch, Dept Hematol Hemostasis Oncol & Stem Cell Transpl, Hannover, Germany. RP Abend, M (reprint author), Univ Ulm, Bundeswehr Inst Radiobiol, Neuherbergstr 11, D-80937 Munich, Germany. EM michaelabend@bundeswehr.org RI Waldenberger, Melanie/B-5355-2014 OI Waldenberger, Melanie/0000-0003-0583-5093 FU Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health; German Ministry of Defense FX Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health; German Ministry of Defense. NR 41 TC 2 Z9 2 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0143-3334 EI 1460-2180 J9 CARCINOGENESIS JI Carcinogenesis PD JUL PY 2016 VL 37 IS 7 BP 677 EP 684 DI 10.1093/carcin/bgw047 PG 8 WC Oncology SC Oncology GA DT0XJ UT WOS:000381206000004 PM 27207655 ER PT J AU Bassig, BA Zhang, LP Vermeulen, R Tang, XJ Li, GL Hu, W Guo, WH Purdue, MP Yin, SN Rappaport, SM Shen, M Ji, ZY Qiu, CY Ge, YC Hosgood, HD Reiss, B Wu, BH Xie, YX Li, LY Yue, F Freeman, LEB Blair, A Hayes, RB Huang, HL Smith, MT Rothman, N Lan, Q AF Bassig, Bryan A. Zhang, Luoping Vermeulen, Roel Tang, Xiaojiang Li, Guilan Hu, Wei Guo, Weihong Purdue, Mark P. Yin, Songnian Rappaport, Stephen M. Shen, Min Ji, Zhiying Qiu, Chuangyi Ge, Yichen Hosgood, H. Dean Reiss, Boris Wu, Banghua Xie, Yuxuan Li, Laiyu Yue, Fei Freeman, Laura E. Beane Blair, Aaron Hayes, Richard B. Huang, Hanlin Smith, Martyn T. Rothman, Nathaniel Lan, Qing TI Comparison of hematological alterations and markers of B-cell activation in workers exposed to benzene, formaldehyde and trichloroethylene SO CARCINOGENESIS LA English DT Article ID MYELOID PROGENITOR CELLS; NON-HODGKIN-LYMPHOMA; OCCUPATIONAL-EXPOSURE; CHINESE WORKERS; RISK; CANCER; METAANALYSIS; HEMATOTOXICITY; LEUKEMIA; COHORT AB The current study demonstrates differences in how cells derived from the myeloid versus the lymphoid lineage are affected by exposures to benzene, formaldeyde and TCE, all of which have been associated with specific hematologic cancers in epidemiologic studies.Benzene, formaldehyde (FA) and trichloroethylene (TCE) are ubiquitous chemicals in workplaces and the general environment. Benzene is an established myeloid leukemogen and probable lymphomagen. FA is classified as a myeloid leukemogen but has not been associated with non-Hodgkin lymphoma (NHL), whereas TCE has been associated with NHL but not myeloid leukemia. Epidemiologic associations between FA and myeloid leukemia, and between benzene, TCE and NHL are, however, still debated. Previously, we showed that these chemicals are associated with hematotoxicity in cross-sectional studies of factory workers in China, which included extensive personal monitoring and biological sample collection. Here, we compare and contrast patterns of hematotoxicity, monosomy 7 in myeloid progenitor cells (MPCs), and B-cell activation biomarkers across these studies to further evaluate possible mechanisms of action and consistency of effects with observed hematologic cancer risks. Workers exposed to benzene or FA, but not TCE, showed declines in cell types derived from MPCs, including granulocytes and platelets. Alterations in lymphoid cell types, including B cells and CD4+ T cells, and B-cell activation markers were apparent in workers exposed to benzene or TCE. Given that alterations in myeloid and lymphoid cell types are associated with hematological malignancies, our data provide biologic insight into the epidemiological evidence linking benzene and FA exposure with myeloid leukemia risk, and TCE and benzene exposure with NHL risk. C1 [Bassig, Bryan A.; Hu, Wei; Purdue, Mark P.; Shen, Min; Freeman, Laura E. Beane; Blair, Aaron; Rothman, Nathaniel; Lan, Qing] NCI, Occupat & Environm Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,DHHS, Rockville, MD USA. [Zhang, Luoping; Guo, Weihong; Rappaport, Stephen M.; Ji, Zhiying; Smith, Martyn T.] Univ Calif Berkeley, Sch Publ Hlth, Div Environm Hlth Sci, Berkeley, CA 94720 USA. [Vermeulen, Roel] Univ Utrecht, Inst Risk Assessment Sci, Utrecht, Netherlands. [Tang, Xiaojiang; Qiu, Chuangyi; Ge, Yichen; Wu, Banghua; Xie, Yuxuan; Li, Laiyu; Yue, Fei; Huang, Hanlin] Guangdong Poison Control Ctr, Guangzhou, Guangdong, Peoples R China. [Li, Guilan; Yin, Songnian] Chinese Ctr Dis Control & Prevent, Inst Occupat Hlth & Poison Control, Beijing, Peoples R China. [Hosgood, H. Dean] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA. [Reiss, Boris] Univ Washington, Dept Environm & Occupat Hlth Sci, Seattle, WA 98195 USA. [Hayes, Richard B.] NYU, Dept Environm Med, Sch Med, Div Epidemiol, 550 1St Ave, New York, NY 10016 USA. RP Bassig, BA; Lan, Q (reprint author), NCI, Occupat & Environm Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,DHHS, Rockville, MD USA.; Zhang, LP (reprint author), Univ Calif Berkeley, Sch Publ Hlth, Div Environm Hlth Sci, Berkeley, CA 94720 USA. EM bryan.bassig@nih.gov; luoping@berkeley.edu; qingl@mail.nih.gov RI Vermeulen, Roel/F-8037-2011; OI Vermeulen, Roel/0000-0003-4082-8163; Hayes, Richard/0000-0002-0918-661X FU National Cancer Institute; National Institute of Environmental Health Sciences [P42ES04705, P30ES01896, R01ES017452]; Northern California Center for Occupational and Environmental Health; Department of Science and Technology of Guangdong Province, China [2007A050100004]; National Institutes of Health [P42ES04705, P30ES01896, RO1ES06721, P42ES05948, P30ES10126, N01-CO-12400]; SAIC-Frederick, Inc. FX TCE study: National Institutes of Health and National Cancer Institute; National Institute of Environmental Health Sciences (P42ES04705, P30ES01896); Northern California Center for Occupational and Environmental Health; Department of Science and Technology of Guangdong Province, China (2007A050100004). FA study: National Cancer Institute; National Institute of Environmental Health Sciences (P42ES04705, R01ES017452); the Northern California Center for Occupational and Environmental Health; Department of Science and Technology of Guangdong Province, China (2007A050100004). Benzene study: National Institutes of Health (RO1ES06721, P42ES04705, P30ES01896, P42ES05948, P30ES10126) and National Institutes of Health contract N01-CO-12400 with SAIC-Frederick, Inc. NR 46 TC 1 Z9 1 U1 3 U2 4 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0143-3334 EI 1460-2180 J9 CARCINOGENESIS JI Carcinogenesis PD JUL PY 2016 VL 37 IS 7 BP 692 EP 700 DI 10.1093/carcin/bgw053 PG 9 WC Oncology SC Oncology GA DT0XJ UT WOS:000381206000006 PM 27207665 ER PT J AU Williams, R White, P Nieto, J Vieira, D Francois, F Hamilton, F AF Williams, Renee White, Pascale Nieto, Jose Vieira, Dorice Francois, Fritz Hamilton, Frank TI Colorectal Cancer in African Americans: An Update SO CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY LA English DT Review ID BLACK-WHITE DIFFERENCES; RANDOMIZED-CLINICAL-TRIAL; PRIMARY-CARE; RACIAL-DIFFERENCES; UNITED-STATES; SCREENING COLONOSCOPY; SOCIOECONOMIC-STATUS; ETHNIC DISPARITIES; HEALTH DISPARITIES; RECTAL-CANCER AB This review is an update to the American College of Gastroenterology (ACG) Committee on Minority Affairs and Cultural Diversity's paper on colorectal cancer (CRC) in African Americans published in 2005. Over the past 10 years, the incidence and mortality rates of CRC in the United States has steadily declined. However, reductions have been strikingly much slower among African Americans who continue to have the highest rate of mortality and lowest survival when compared with all other racial groups. The reasons for the health disparities are multifactorial and encompass physician and patient barriers. Patient factors that contribute to disparities include poor knowledge of benefits of CRC screening, limited access to health care, insurance status along with fear and anxiety. Physician factors include lack of knowledge of screening guidelines along with disparate recommendations for screening. Earlier screening has been recommended as an effective strategy to decrease observed disparities; currently the ACG and American Society of Gastrointestinal Endoscopists recommend CRC screening in African Americans to begin at age 45. Despite the decline in CRC deaths in all racial and ethnic groups, there still exists a significant burden of CRC in African Americans, thus other strategies including educational outreach for health care providers and patients and the utilization of patient navigation systems emphasizing the importance of screening are necessary. These strategies have been piloted in both local communities and Statewide resulting in notable significant decreases in observed disparities. C1 [Williams, Renee; Vieira, Dorice; Francois, Fritz] NYU, Sch Med, Bellevue Hosp Ctr, 462 First Ave,Room CD 697, New York, NY 10016 USA. [White, Pascale] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA. [Nieto, Jose] Borland Groover Clin, Jacksonville, FL USA. [Hamilton, Frank] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Williams, R (reprint author), NYU, Sch Med, Bellevue Hosp Ctr, 462 First Ave,Room CD 697, New York, NY 10016 USA. EM Renee.Williams@nyumc.org OI Francois, Fritz/0000-0003-4491-2637; Williams, Renee/0000-0001-5530-2207; Vieira, Dorice/0000-0003-4232-9413 NR 95 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 2155-384X J9 CLIN TRANSL GASTROEN JI Clin. Transl. Gastroenterol. PD JUL PY 2016 VL 7 AR e185 DI 10.1038/ctg.2016.36 PG 9 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA DU3CD UT WOS:000382087500008 PM 27467183 ER PT J AU Catanzaro, D Shackney, SE Schaffer, AA Schwartz, R AF Catanzaro, Daniele Shackney, Stanley E. Schaffer, Alejandro A. Schwartz, Russell TI Classifying the Progression of Ductal Carcinoma from Single-Cell Sampled Data via Integer Linear Programming: A Case Study SO IEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS LA English DT Article DE Tumor profiling; single-cell sequencing; ductal carcinoma of the breast; phylogeny estimation; parsimony criterion; computational biology; distance methods; network design; combinatorial optimization; mixed integer linear programming ID HETEROGENEOUS BREAST-TUMORS; IN-SITU; CANCER; EVOLUTION; GENOME; PATHWAYS; AMPLIFICATION; GLIOBLASTOMA; HALLMARKS; INFERENCE AB Ductal Carcinoma In Situ (DCIS) is a precursor lesion of Invasive Ductal Carcinoma (IDC) of the breast. Investigating its temporal progression could provide fundamental new insights for the development of better diagnostic tools to predict which cases of DCIS will progress to IDC. We investigate the problem of reconstructing a plausible progression from single-cell sampled data of an individual with synchronous DCIS and IDC. Specifically, by using a number of assumptions derived from the observation of cellular atypia occurring in IDC, we design a possible predictive model using integer linear programming (ILP). Computational experiments carried out on a preexisting data set of 13 patients with simultaneous DCIS and IDC show that the corresponding predicted progression models are classifiable into categories having specific evolutionary characteristics. The approach provides new insights into mechanisms of clonal progression in breast cancers and helps illustrate the power of the ILP approach for similar problems in reconstructing tumor evolution scenarios under complex sets of constraints. C1 [Catanzaro, Daniele] Catholic Univ Louvain, Louvain Sch Management, B-1517000 Mons, Belgium. [Catanzaro, Daniele] Catholic Univ Louvain, Ctr Operat Res & Econometr, B-1517000 Mons, Belgium. [Shackney, Stanley E.] Drexel Univ, Sch Med, Dept Human Oncol, Pittsburgh, PA 15243 USA. [Shackney, Stanley E.] Drexel Univ, Sch Med, Dept Human Genet, Pittsburgh, PA 15243 USA. [Schaffer, Alejandro A.] NCBI, Computat Biol Branch, NIH, Bethesda, MD 20894 USA. [Schwartz, Russell] Carnegie Mellon Univ, Dept Biol Sci, Pittsburgh, PA USA. [Schwartz, Russell] Carnegie Mellon Univ, Computat Biol Dept, Pittsburgh, PA USA. RP Catanzaro, D (reprint author), Catholic Univ Louvain, Louvain Sch Management, B-1517000 Mons, Belgium.; Catanzaro, D (reprint author), Catholic Univ Louvain, Ctr Operat Res & Econometr, B-1517000 Mons, Belgium. EM daniele.catanzaro@uclouvain.be; aschaffe@helix.nih.gov; russells@andrew.cmu.edu RI Schwartz, Russell/A-1998-2016; OI Schwartz, Russell/0000-0002-4970-2252; Catanzaro, Daniele/0000-0001-9427-1562 FU Belgian National Fund for Scientific Research (FRS-FNRS); US National Institutes of Health [1R01CA140214, 1R01AI076318]; Intramural Research Program of the NIH, NLM FX This research was supported in part by the Belgian National Fund for Scientific Research (FRS-FNRS) (D.C), US National Institutes of Health grants 1R01CA140214 (R.S.) and 1R01AI076318 (R.S.), and the Intramural Research Program of the NIH, NLM (A.A.S.). The authors thank the anonymous reviewers whose insightful suggestions helped them improve the manuscript. NR 50 TC 1 Z9 1 U1 2 U2 3 PU IEEE COMPUTER SOC PI LOS ALAMITOS PA 10662 LOS VAQUEROS CIRCLE, PO BOX 3014, LOS ALAMITOS, CA 90720-1314 USA SN 1545-5963 EI 1557-9964 J9 IEEE ACM T COMPUT BI JI IEEE-ACM Trans. Comput. Biol. Bioinform. PD JUL-AUG PY 2016 VL 13 IS 4 BP 643 EP 655 DI 10.1109/TCBB.2015.2476808 PG 13 WC Biochemical Research Methods; Computer Science, Interdisciplinary Applications; Mathematics, Interdisciplinary Applications; Statistics & Probability SC Biochemistry & Molecular Biology; Computer Science; Mathematics GA DT5FI UT WOS:000381506500005 PM 26353381 ER PT J AU Miller, A Yeskey, K Garantziotis, S Arnesen, S Bennett, A O'Fallon, L Thompson, C Reinlib, L Masten, S Remington, J Love, C Ramsey, S Rosselli, R Galluzzo, B Lee, J Kwok, R Hughes, J AF Miller, Aubrey Yeskey, Kevin Garantziotis, Stavros Arnesen, Stacey Bennett, April O'Fallon, Liam Thompson, Claudia Reinlib, Les Masten, Scott Remington, James Love, Cindy Ramsey, Steve Rosselli, Richard Galluzzo, Betsy Lee, Joy Kwok, Richard Hughes, Joseph TI Integrating Health Research into Disaster Response: The New NIH Disaster Research Response Program SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH LA English DT Editorial Material DE disasters; disaster research; disaster epidemiology; environmental health; science preparedness; disaster risk reduction; strategic science ID COMMUNITY; EPIDEMIOLOGY; TOOL AB The need for high quality and timely disaster research has been a topic of great discussion over the past several years. Recent high profile incidents have exposed gaps in knowledge about the health impacts of disasters or the benefits of specific interventions-such was the case with the 2010 Gulf Oil Spill and recent events associated with lead-contaminated drinking water in Flint, Michigan, and the evolving health crisis related to Zika virus disease. Our inability to perform timely research to inform the community about health and safety risks or address specific concerns further heightens anxiety and distrust. Since nearly all disasters, whether natural or man-made, have an environmental health component, it is critical that specialized research tools and trained researchers be readily available to evaluate complex exposures and health effects, especially for vulnerable sub-populations such as the elderly, children, pregnant women, and those with socioeconomic and environmental disparities. In response, the National Institute of Environmental Health Science has initiated a Disaster Research Response Program to create new tools, protocols, networks of researchers, training exercises, and outreach involving diverse groups of stakeholders to help overcome the challenges of disaster research and to improve our ability to collect vital information to reduce the adverse health impacts and improve future preparedness. C1 [Miller, Aubrey; Bennett, April] NIEHS, Bethesda, MD 20892 USA. [Yeskey, Kevin; Galluzzo, Betsy; Lee, Joy] MDB Inc, Washington, DC 20036 USA. [Garantziotis, Stavros; O'Fallon, Liam; Thompson, Claudia; Reinlib, Les; Masten, Scott; Remington, James; Kwok, Richard; Hughes, Joseph] NIEHS, Res Triangle Pk, NC 27709 USA. [Arnesen, Stacey; Love, Cindy] Natl Lib Med, Bethesda, MD 20892 USA. [Ramsey, Steve; Rosselli, Richard] Social & Sci Syst Inc, Durham, NC 27703 USA. RP Miller, A (reprint author), NIEHS, Bethesda, MD 20892 USA. EM miller.aubrey@nih.gov; kyeskey@michaeldbaker.com; garantziotis@niehs.nih.gov; arneses@mail.nlm.nih.gov; april.bennett@nih.gov; ofallon@niehs.nih.gov; thompso1@niehs.nih.gov; reinlib@niehs.nih.gov; masten@niehs.nih.gov; remingtonj@niehs.nih.gov; lovec@mail.nlm.nih.gov; SRamsey@s-3.com; RRosselli@s-3.com; beagin@michaeldbaker.com; jlee@michaeldbaker.com; Richard.Kwok@nih.gov; hughes3@niehs.nih.gov RI masten, scott/R-1403-2016; Garantziotis, Stavros/A-6903-2009; Kwok, Richard/B-6907-2017 OI masten, scott/0000-0002-7847-181X; Garantziotis, Stavros/0000-0003-4007-375X; Kwok, Richard/0000-0002-6794-8360 NR 14 TC 0 Z9 0 U1 57 U2 65 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 1660-4601 J9 INT J ENV RES PUB HE JI Int. J. Environ. Res. Public Health PD JUL PY 2016 VL 13 IS 7 AR 676 DI 10.3390/ijerph13070676 PG 12 WC Environmental Sciences; Public, Environmental & Occupational Health SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health GA DS4OG UT WOS:000380759800052 ER PT J AU Zaleski, RT Egeghy, PP Hakkinen, PJ AF Zaleski, Rosemary T. Egeghy, Peter P. Hakkinen, Pertti J. TI Exploring Global Exposure Factors Resources for Use in Consumer Exposure Assessments SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH LA English DT Review DE consumer products; exposure factors; databases; exposure assessments; online; time-activity patterns; consumer behavior; household products ID PERSONAL CARE PRODUCTS; NONDIETARY INGESTION EXPOSURE; MOUTH FREQUENCY DATA; FACTORS HANDBOOK; COSMETIC PRODUCTS; RISK-ASSESSMENT; 21ST-CENTURY ROADMAP; YOUNG-CHILDREN; INDOOR AIR; CHEMICALS AB This publication serves as a global comprehensive resource for readers seeking exposure factor data and information relevant to consumer exposure assessment. It describes the types of information that may be found in various official surveys and online and published resources. The relevant exposure factors cover a broad range, including general exposure factor data found in published compendia and databases and resources about specific exposure factors, such as human activity patterns and housing information. Also included are resources on exposure factors related to specific types of consumer products and the associated patterns of use, such as for a type of personal care product or a type of children's toy. Further, a section on using exposure factors for designing representative exposure scenarios is included, along with a look into the future for databases and other exposure science developments relevant for consumer exposure assessment. C1 [Zaleski, Rosemary T.] ExxonMobil Biomed Sci Inc, 1545 Route 22 East, Annandale, NJ 08801 USA. [Egeghy, Peter P.] US EPA, Off Res & Dev, Natl Exposure Res Lab, Res Triangle Pk, NC 27711 USA. [Hakkinen, Pertti J.] Natl Lib Med, NIH, 6707 Democracy Blvd,Suite 510, Bethesda, MD 20894 USA. RP Zaleski, RT (reprint author), ExxonMobil Biomed Sci Inc, 1545 Route 22 East, Annandale, NJ 08801 USA. EM rosemary.t.zaleski@exxonmobil.com; egeghy.peter@epa.gov; pertti.hakkinen@nih.gov FU ExxonMobil Biomedical Sciences, Inc. FX The International Society of Exposure Science Symposium on Exploring Global Data Resources for Consumer Exposure Assessment served both as the inspiration for developing this publication, as well as the basis for much of the information provided in the document (costs of open access were paid for by ExxonMobil Biomedical Sciences, Inc.). The authors (symposium co-organizers) would like to thank all of the conference presenters for the information shared both at the symposium and for inclusion in this paper, as well as help in manuscript review, by recognizing them as contributors below. NR 139 TC 0 Z9 0 U1 3 U2 3 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 1660-4601 J9 INT J ENV RES PUB HE JI Int. J. Environ. Res. Public Health PD JUL PY 2016 VL 13 IS 7 AR 744 DI 10.3390/ijerph13070744 PG 26 WC Environmental Sciences; Public, Environmental & Occupational Health SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health GA DS4OG UT WOS:000380759800120 ER PT J AU Dong, BX Somani, AK Love, PE Zheng, X Chen, XQ Zhang, JY AF Dong, Baoxia Somani, Ally-Khan Love, Paul E. Zheng, Xuan Chen, Xiequn Zhang, Jinyi TI CD5-mediated inhibition of TCR signaling proceeds normally in the absence of SHP-1 SO INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE LA English DT Article DE T-cell antigen receptor signaling; tyrosine phosphatase; thymic selection; CD5; SHP-1 ID CELL ANTIGEN RECEPTOR; CYTOPLASMIC FREE CALCIUM; PROTEIN-KINASE-C; TYROSINE-PHOSPHATASE; NEGATIVE REGULATION; T-CELLS; B-CELLS; PHOSPHATIDYLINOSITOL 3-KINASE; CD5 EXPRESSION; ACTIVATION AB The CD5 transmembrane glycoprotein functions as a co-receptor in the signaling pathway linking T-cell antigen receptor (TCR) engagement to activation and differentiation. Although CD5 effects on TCR signaling have been shown to be primarily inhibitory, the underlying mechanisms remain unclear. In view of recent data revealing the ability of CD5 to associate with the SHP-1 tyrosine phosphatase, a protein that also downregulates TCR signaling, we examined the role of SHP-1 in modulating CD5 function using thymocytes from SHP-1-deficient viable motheaten (me(v)) mice. The results revealed the association of SHP-1 with CD5 to be markedly increased following TCR stimulation and indicated that this interaction was enhanced by and was dependent on CD5 tyrosine phosphorylation. However, there was no difference of the tyrosine phosphorylation status of CD5 between resting and TCR-stimulated cells in SHP-1-deficient compared to wildtype thymocytes. Lack of SHP-1 activity did not affect the levels of CD5 surface expression, CD5 co-immunoprecipitable tyrosine phosphatase activity and intracellular calcium increase following co-crosslinking of the TCR and CD5. Similarly, an analysis of T-cell thymocyte populations in me(v) mice expressing an H-Y transgene as well as a construct mediating T-cell restricted CD5 overexpression, revealed that the reduction in the positive selection conferred by CD5 overexpression was unaffected by SHP-1 deficiency. CD5 is not a SHP-1 substrate and SHP-1 is not required for and possibly not involved in the CD5-mediated modulation of TCR signaling. C1 [Dong, Baoxia; Zheng, Xuan; Chen, Xiequn] Fourth Mil Med Univ, Xijing Hosp, Dept Haematol, Xian 710032, Shaanxi, Peoples R China. [Somani, Ally-Khan; Zhang, Jinyi] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada. [Love, Paul E.] NICHHD, Lab Mammalian Genes & Dev, NIH, Bethesda, MD 20892 USA. [Somani, Ally-Khan] Indiana Univ Sch Med, Dept Dermatol, Indianapolis, IN 46202 USA. RP Dong, BX (reprint author), Fourth Mil Med Univ, Xijing Hosp, Dept Haematol, Xian 710032, Shaanxi, Peoples R China.; Zhang, JY (reprint author), Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada. EM dongbaoxia18@163.com; jinyi@mshri.on.ca NR 55 TC 0 Z9 0 U1 2 U2 2 PU SPANDIDOS PUBL LTD PI ATHENS PA POB 18179, ATHENS, 116 10, GREECE SN 1107-3756 EI 1791-244X J9 INT J MOL MED JI Int. J. Mol. Med. PD JUL PY 2016 VL 38 IS 1 BP 45 EP 56 DI 10.3892/ijmm.2016.2592 PG 12 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DT2CZ UT WOS:000381289700006 PM 27221212 ER PT J AU Campbell, CMP Viscidi, RP Torres, BN Lin, HY Fulp, W Abrahamsen, M Lazcano-Ponce, E Villa, LL Kreimer, AR Giuliano, AR AF Campbell, Christine M. Pierce Viscidi, Raphael P. Torres, B. Nelson Lin, Hui-Yi Fulp, William Abrahamsen, Martha Lazcano-Ponce, Eduardo Villa, Luisa L. Kreimer, Aimee R. Giuliano, Anna R. TI Human Papillomavirus (HPV) L1 Serum Antibodies and the Risk of Subsequent Oral HPV Acquisition in Men: The HIM Study SO JOURNAL OF INFECTIOUS DISEASES LA English DT Article DE oral HPV; HPV16; antibodies; serology; men ID CANCER INCIDENCE; NATURAL-HISTORY; INFECTION; VACCINATION; RESPONSES; COHORT AB The role of antibody-mediated immunity in preventing newly acquired oral human papillomavirus (HPV) is not well understood. Among 1618 men participating in the HPV Infection in Men (HIM) Study, we evaluated oral rinses for HPV DNA and baseline sera for HPV-6, -11, -16, and -18 L1 antibodies. Thirty percent of men (486) were seropositive for >= 1 HPV type, and 25 men developed incident oral HPV infection (HPV-6 was detected in 7, HPV-11 in 0, HPV-16 in 17, and HPV-18 in 1). Cox models revealed that men with circulating antibodies to HPV-6, -11, -16, or -18 were not less likely to acquire type-specific oral HPV than men without antibodies (hazard ratio for the risk of acquiring HPV-6, -11, -16, or -18, 1.63; 95% confidence interval,.56-4.76). C1 [Campbell, Christine M. Pierce; Torres, B. Nelson; Abrahamsen, Martha; Giuliano, Anna R.] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL USA. [Lin, Hui-Yi; Fulp, William] H Lee Moffitt Canc Ctr & Res Inst, Dept Biostat & Bioinformat, Tampa, FL USA. [Viscidi, Raphael P.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA. [Kreimer, Aimee R.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Lazcano-Ponce, Eduardo] Inst Nacl Salud Publ, Ctr Invest Salud Poblac, Cuernavaca, Morelos, Mexico. [Villa, Luisa L.] Univ Sao Paulo, Sch Med, Dept Radiol & Oncol, BR-05508 Sao Paulo, Brazil. [Villa, Luisa L.] Canc Inst State Sao Paulo, Sao Paulo, Brazil. [Lin, Hui-Yi] Louisiana State Univ, Sch Publ Hlth, Hlth Sci Ctr, Dept Biostat, New Orleans, LA USA. [Fulp, William] Fred Hutchinson Canc Res Ctr, Stat Ctr HIV AIDS Res & Prevent, 1124 Columbia St, Seattle, WA 98104 USA. RP Giuliano, AR (reprint author), MRC CANCONT, Ctr Infect Res Canc, 12902 Magnolia Dr, Tampa, FL 33612 USA. EM anna.giuliano@moffitt.org FU NCI, NIH [R01 CA098803]; National Cancer Institute Intramural Program; Investigator-Initiated Studies Program, Merck Sharp and Dohme; American Cancer Society [PF-13-222-01-MPC] FX This work was supported by the NCI, NIH (grant R01 CA098803 to A. R. G.); the National Cancer Institute Intramural Program (to A. R. K.); the Investigator-Initiated Studies Program, Merck Sharp and Dohme (to A. R. G.); and the American Cancer Society (postdoctoral fellowship PF-13-222-01-MPC to C. M. P. C.). NR 15 TC 0 Z9 0 U1 2 U2 2 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0022-1899 EI 1537-6613 J9 J INFECT DIS JI J. Infect. Dis. PD JUL 1 PY 2016 VL 214 IS 1 BP 45 EP 48 DI 10.1093/infdis/jiw083 PG 4 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA DR3SF UT WOS:000379822200008 ER PT J AU Beigi, RH Noguchi, L Brown, G Piper, J Watts, DH AF Beigi, Richard H. Noguchi, Lisa Brown, Gina Piper, Jeanna Watts, D. Heather TI Performing Drug Safety Research During Pregnancy and Lactation: Biomedical HIV Prevention Research as a Template SO JOURNAL OF WOMENS HEALTH LA English DT Article ID TO-CHILD TRANSMISSION; PREEXPOSURE PROPHYLAXIS; PRETERM DELIVERY; WOMEN; RISK; INFECTION; MEDICATIONS; UGANDA; TERM; PHARMACOKINETICS AB Evidence-based guidance regarding use of nearly all pharmaceuticals by pregnant and lactating women is limited. Models for performing research may assist in filling these knowledge gaps. Internationally, reproductive age women are at high risk of human immunodeficiency virus (HIV) acquisition. Susceptibility to HIV infection may be increased during pregnancy, and risk of maternal-child transmission is increased with incident HIV infection during pregnancy and lactation. A multidisciplinary meeting of experts was convened at the United States National Institutes of Health to consider paradigms for drug research in pregnancy and lactation applicable to HIV prevention. This report summarizes the meeting proceedings and describes a framework for research on candidate HIV prevention agent use during pregnancy and lactation that may also have broader applications to other pharmaceutical products. C1 [Beigi, Richard H.] Univ Pittsburgh, Med Ctr, Div Reprod Infect Dis, Dept Obstet Gynecol & Reprod Sci,Magee Womens, 300 Halket St, Pittsburgh, PA 15213 USA. [Beigi, Richard H.; Noguchi, Lisa] Magee Womens Res Inst, Microbicide Trials Network, Pittsburgh, PA USA. [Noguchi, Lisa] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. [Brown, Gina] NIH, Off AIDS Res, Bldg 10, Bethesda, MD 20892 USA. [Piper, Jeanna] NIAID, Div Aids, NIH, Bethesda, MD 20892 USA. [Watts, D. Heather] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD USA. RP Beigi, RH (reprint author), Univ Pittsburgh, Med Ctr, Div Reprod Infect Dis, Dept Obstet Gynecol & Reprod Sci,Magee Womens, 300 Halket St, Pittsburgh, PA 15213 USA. EM rbeigi@mail.magee.edu FU National Institute of Allergy and Infectious Diseases, Division of AIDS, National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland FX Funding for the meeting was provided by National Institute of Allergy and Infectious Diseases, Division of AIDS, National Institutes of Health, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland. All authors planned and attended the meeting, reviewed all of the relevant literature, and reviewed all drafts of the manuscript. NR 48 TC 1 Z9 1 U1 2 U2 2 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1540-9996 EI 1931-843X J9 J WOMENS HEALTH JI J. Womens Health PD JUL PY 2016 VL 25 IS 7 BP 761 EP 766 DI 10.1089/jwh.2013.4398 PG 6 WC Public, Environmental & Occupational Health; Medicine, General & Internal; Obstetrics & Gynecology; Women's Studies SC Public, Environmental & Occupational Health; General & Internal Medicine; Obstetrics & Gynecology; Women's Studies GA DS5GB UT WOS:000380808300016 PM 23808668 ER PT J AU Awuah, P Bera, TK Folivi, M Chertov, O Pastan, I AF Awuah, Prince Bera, Tapan K. Folivi, Messan Chertov, Oleg Pastan, Ira TI Reduced Shedding of Surface Mesothelin Improves Efficacy of Mesothelin-Targeting Recombinant Immunotoxins SO MOLECULAR CANCER THERAPEUTICS LA English DT Article ID EXPRESSING TUMOR XENOGRAFTS; PANCREATIC-CANCER; MONOCLONAL-ANTIBODY; POTENTIATING FACTOR; ANTITUMOR-ACTIVITY; SOLID TUMORS; IN-VITRO; THERAPY; OVARIAN; SS1P AB Mesothelin (MSLN) is a differentiation antigen that is highly expressed in many epithelial cancers. MSLN is an important therapeutic target due to its high expression in cancers and limited expression in normal human tissues. Although it has been assumed that shed antigen is a barrier to immunotoxin action, a modeling study predicted that shed MSLN may enhance the action of MSLN-targeting recombinant immunotoxins such as SS1P and similar therapeutics by facilitating their redistribution within tumors. We aimed to determine whether shed MSLN enhances or reduces the antitumor effect of MSLN-targeting immunotoxins SS1P and RG7787. We engineered a cell line, A431/G9 (TACE mutant) that expresses a mutant form of MSLN in which the TNF-converting enzyme protease site is replaced with GGGS. We compared the response of the TACE-mutant cells with immunotoxins SS1P and RG7787 with that of the parental A431/H9 cell line. We show that TACE-mutant cells shed 80% less MSLN than A431/H9 cells, that TACE-mutant cells show a 2- to 3-fold increase in MSLN-targeted immunotoxin uptake, and that they are about 5-fold more sensitive to SS1P killing in cell culture. Tumors with reduced shedding respond significantly better to treatment with SS1P and RG7787. Our data show that MSLN shedding is an impediment to the antitumor activity of SS1P and RG7787. Approaches that decrease MSLN shedding could enhance the efficacy of immunotoxins and immunoconjugates targeting MSLN-expressing tumors. (C) 2016 AACR. C1 [Awuah, Prince; Bera, Tapan K.; Folivi, Messan; Pastan, Ira] NCI, Mol Biol Lab, Ctr Canc Res, NIH, Bldg 37, Bethesda, MD 20892 USA. [Chertov, Oleg] Leidos Biomed Inc, Canc Res Technol Program, Frederick, MD USA. RP Pastan, I (reprint author), NCI, NIH, 37 Convent Dr,Room 5106, Bethesda, MD 20892 USA. EM pastani@mail.nih.gov FU Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research; National Cancer Institute, NIH [HHSN261200800001E] FX This work was supported in part by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research and by the National Cancer Institute, NIH, Contract HHSN261200800001E (to O. Chertov). NR 40 TC 0 Z9 0 U1 1 U2 1 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1535-7163 EI 1538-8514 J9 MOL CANCER THER JI Mol. Cancer Ther. PD JUL PY 2016 VL 15 IS 7 BP 1648 EP 1655 DI 10.1158/1535-7163.MCT-15-0863 PG 8 WC Oncology SC Oncology GA DS9FC UT WOS:000381087200021 PM 27196771 ER PT J AU Gurard-Levin, ZA Wilson, LOW Pancaldi, V Postel-Vinay, S Sousa, FG Reyes, C Marangoni, E Gentien, D Valencia, A Pommier, Y Cottu, P Almouzni, G AF Gurard-Levin, Zachary A. Wilson, Laurence O. W. Pancaldi, Vera Postel-Vinay, Sophie Sousa, Fabricio G. Reyes, Cecile Marangoni, Elisabetta Gentien, David Valencia, Alfonso Pommier, Yves Cottu, Paul Almouzni, Genevieve TI Chromatin Regulators as a Guide for Cancer Treatment Choice SO MOLECULAR CANCER THERAPEUTICS LA English DT Article ID NEGATIVE BREAST-CANCER; GENE-EXPRESSION; INDUCTION CHEMOTHERAPY; RANDOM FORESTS; CLASSIFICATION; CENTROMERES; RESISTANCE; CHAPERONES; CELLS; EPIGENETICS AB The limited capacity to predict a patient's response to distinct chemotherapeutic agents is a major hurdle in cancer management. The efficiency of a large fraction of current cancer therapeutics (radio-and chemotherapies) is influenced by chromatin structure. Reciprocally, alterations in chromatin organization may affect resistance mechanisms. Here, we explore how the misexpression of chromatin regulators-factors involved in the establishment and maintenance of functional chromatin domains-can inform about the extent of docetaxel response. We exploit Affymetrix and NanoString gene expression data for a set of chromatin regulators generated from breast cancer patient-derived xenograft models and patient samples treated with doc-etaxel. Random Forest classification reveals specific panels of chromatin regulators, including key components of the SWI/SNF chromatin remodeler, which readily distinguish docetaxel highresponders and poor-responders. Further exploration of SWI/SNF components in the comprehensive NCI-60 dataset reveals that the expression inversely correlates with docetaxel sensitivity. Finally, we show that loss of the SWI/SNF subunit BRG1 (SMARCA4) in a model cell line leads to enhanced docetaxel sensitivity. Altogether, our findings point toward chromatin regulators as biomarkers for drug response as well as therapeutic targets to sensitize patients toward docetaxel and combat drug resistance. (C) 2016 AACR. C1 [Gurard-Levin, Zachary A.; Wilson, Laurence O. W.; Almouzni, Genevieve] PSL Res Univ, CNRS, Inst Curie, UMR3664,Equipe Labellisee Ligue Canc, Paris, France. [Gurard-Levin, Zachary A.; Wilson, Laurence O. W.; Almouzni, Genevieve] Univ Paris 06, Sorbonne Univ, CNRS, UMR3664, Paris, France. [Pancaldi, Vera; Valencia, Alfonso] Care of Fernandez M, Spanish Natl Canc Res Ctr CNIO, Madrid, Spain. [Postel-Vinay, Sophie] Gustave Roussy, DITEP Dept Innovat Therapeut & Essais Precoces, Villejuif, France. [Postel-Vinay, Sophie] Gustave Roussy, Inserm Unit U981, Villejuif, France. [Postel-Vinay, Sophie] Univ Paris 11, Univ Paris Saclay, Fac Med, Le Kremlin Bicetre, France. [Sousa, Fabricio G.; Pommier, Yves] NCI, Dev Therapeut Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Sousa, Fabricio G.; Pommier, Yves] NCI, Mol Pharmacol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Reyes, Cecile; Marangoni, Elisabetta; Gentien, David] PSL Res Univ, Inst Curie, Translat Res Dept, Genom Platform, Paris, France. [Cottu, Paul] Inst Curie, Med Oncol, Paris, France. RP Almouzni, G (reprint author), PSL Res Univ, CNRS, Inst Curie, UMR3664,Equipe Labellisee Ligue Canc, Paris, France.; Almouzni, G (reprint author), Univ Paris 06, Sorbonne Univ, CNRS, UMR3664, Paris, France.; Gurard-Levin, ZA (reprint author), Inst Curie, 26 Rue Ulm, F-75005 Paris, France. EM zachary.gurard-levin@curie.fr; genevieve.almouzni@curie.fr RI Sousa, Fabricio/O-8878-2015; Pancaldi, Vera/I-2555-2015 OI Sousa, Fabricio/0000-0003-0444-754X; valencia, alfonso/0000-0002-8937-6789; Pancaldi, Vera/0000-0002-7433-624X FU la Ligue Nationale contre le Cancer (Equipe labellisee Ligue); European Commission Network of Excellence EpiGeneSys [HEALTH-F4-2010-257082]; ERC [2009AdG_20090506, 678563]; European Commission [FP7_HEALTH-2010-259743, ANR-11-LABX-0044_DEEP, ANR-10-IDEX-0001-02 PSL, ANR-12-BSV5-0022-02, ANR-14-CE16-0009, ANR-14-CE100013]; Aviesan ITMO cancer project "Epigenomics of breast cancer; Grant "INCa-DGOS-4654" [SIRIC11-002]; FEBS fellowship; NIH Intramural Program, Center for Cancer Research [Z01 BC 006150]; [ANR10-IDEX-0001-02 PSL]; [ANR-11-LBX-0044] FX G. Almouzni's team is supported by la Ligue Nationale contre le Cancer (Equipe labellisee Ligue), the European Commission Network of Excellence EpiGeneSys [HEALTH-F4-2010-257082; an EpiGeneSys small call award to Z.A. Gurard-Levin and V. Pancaldi (2014)] ERC Advanced Grant 2009AdG_20090506 "Eccentric," ERC Proof of Concept No 678563 "EPOCH28" to G. Almouzni, the European Commission large-scale integrating project FP7_HEALTH-2010-259743 "MODHEP," ANR-11-LABX-0044_DEEP and ANR-10-IDEX-0001-02 PSL, ANR "CHAPINHIB" ANR-12-BSV5-0022-02, ANR "Epicure" ANR-14-CE16-0009, ANR "CELLECTCHIP" ANR-14-CE100013, and Aviesan ITMO cancer project "Epigenomics of breast cancer." Acquisition of the Nanostring platform was initiated and supported by ANR10-IDEX-0001-02 PSL, ANR-11-LBX-0044, and Grant "INCa-DGOS-4654" SIRIC11-002. V. Pancaldi is supported by a FEBS fellowship. Y. Pommier and F.G. Sousa were supported by the NIH Intramural Program, Center for Cancer Research (Z01 BC 006150). NR 58 TC 1 Z9 1 U1 1 U2 4 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1535-7163 EI 1538-8514 J9 MOL CANCER THER JI Mol. Cancer Ther. PD JUL PY 2016 VL 15 IS 7 BP 1768 EP 1777 DI 10.1158/1535-7163.MCT-15-1008 PG 10 WC Oncology SC Oncology GA DS9FC UT WOS:000381087200032 PM 27196757 ER PT J AU Hammel, M Amlanjyoti, D Reyes, FE Chen, JH Parpana, R Tang, HYH Larabell, CA Tainer, JA Adhya, S AF Hammel, Michal Amlanjyoti, Dhar Reyes, Francis E. Chen, Jian-Hua Parpana, Rochelle Tang, Henry Y. H. Larabell, Carolyn A. Tainer, John A. Adhya, Sankar TI HU multimerization shift controls nucleoid compaction SO SCIENCE ADVANCES LA English DT Article ID X-RAY-SCATTERING; BINDING PROTEIN HU; ESCHERICHIA-COLI; DNA-BINDING; BIOLOGICAL MACROMOLECULES; CRYSTAL-STRUCTURE; GENE-EXPRESSION; BENT DNA; SAXS; TRANSCRIPTION AB Molecular mechanisms controlling functional bacterial chromosome (nucleoid) compaction and organization are surprisingly enigmatic but partly depend on conserved, histone-like proteins HU alpha alpha and HU alpha beta and their interactions that span the nanoscale and mesoscale from protein-DNA complexes to the bacterial chromosome and nucleoid structure. We determined the crystal structures of these chromosome-associated proteins in complex with native duplex DNA. Distinct DNA binding modes of HU alpha alpha and HU alpha beta elucidate fundamental features of bacterial chromosome packing that regulate gene transcription. By combining crystal structures with solution x-ray scattering results, we determined architectures of HU-DNA nucleoproteins in solution under near-physiological conditions. These macromolecular conformations and interactions result in contraction at the cellular level based on in vivo imaging of native unlabeled nucleoid by soft x-ray tomography upon HU beta and ectopic HU alpha 38 expression. Structural characterization of charge-altered HU alpha alpha-DNA complexes reveals an HU molecular switch that is suitable for condensing nucleoid and reprogramming noninvasive Escherichia coli into an invasive form. Collective findings suggest that shifts between networking and cooperative and noncooperative DNA-dependent HU multimerization control DNA compaction and supercoiling independently of cellular topoisomerase activity. By integrating x-ray crystal structures, x-ray scattering, mutational tests, and x-ray imaging that span from protein-DNA complexes to the bacterial chromosome and nucleoid structure, we show that defined dynamic HU interaction networks can promote nucleoid reorganization and transcriptional regulation as efficient general microbial mechanisms to help synchronize genetic responses to cell cycle, changing environments, and pathogenesis. C1 [Hammel, Michal; Reyes, Francis E.; Parpana, Rochelle; Tang, Henry Y. H.; Larabell, Carolyn A.; Tainer, John A.] Lawrence Berkeley Natl Lab, Mol Biophys & Integrated Bioimaging, Berkeley, CA 94720 USA. [Amlanjyoti, Dhar; Adhya, Sankar] NCI, Mol Biol Lab, Ctr Canc Res, NIH, Bldg 37, Bethesda, MD 20892 USA. [Chen, Jian-Hua; Larabell, Carolyn A.] Univ Calif San Francisco, Dept Anat, San Francisco, CA 94143 USA. [Tainer, John A.] Univ Texas MD Anderson Canc Ctr, Dept Mol & Cellular Oncol, 1515 Holcombe Blvd, Houston, TX 77030 USA. RP Hammel, M; Tainer, JA (reprint author), Lawrence Berkeley Natl Lab, Mol Biophys & Integrated Bioimaging, Berkeley, CA 94720 USA.; Tainer, JA (reprint author), Univ Texas MD Anderson Canc Ctr, Dept Mol & Cellular Oncol, 1515 Holcombe Blvd, Houston, TX 77030 USA. EM mhammel@lbl.gov; jatainer@lbl.gov FU NCI NIH HHS [P01 CA092584]; NIGMS NIH HHS [P41 GM103445, R01 GM105404] NR 57 TC 1 Z9 1 U1 6 U2 7 PU AMER ASSOC ADVANCEMENT SCIENCE PI WASHINGTON PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA SN 2375-2548 J9 SCI ADV JI Sci. Adv. PD JUL PY 2016 VL 2 IS 7 AR e1600650 DI 10.1126/sciadv.1600650 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DT9GQ UT WOS:000381805300035 PM 27482541 ER PT J AU Tian, PF Jones, RW Yu, F AF Tian, Pengfei Jones, Richard W. Yu, Fei TI Elliptical modelling of hysteresis operating characteristics in a dielectric elastomer tubular actuator SO SMART MATERIALS AND STRUCTURES LA English DT Article DE high voltage power supply; slew-rate; hysteresis; ellipse; dielectric elastomer; tubular actuator; linearization ID COMPENSATION; FABRICATION; DAMPERS AB A dielectric elastomer (DE) tubular actuator, based on compliant metal electrode technology, exhibits hysteresis-like characteristics when driven with a low power rated high voltage power supply (HVPS). This behavior occurs mainly because the DE actuator acts as a capacitive load compromising the 'slew rate' of the HVPS during the actuator's operation. The motivation of this contribution is to investigate the use of elliptical modelling approaches for capturing the hysteresis characteristics exhibited by the DE tubular actuator when it is driven by a low cost low power rated HVPS. The DE tubular actuator considered in this work demonstrates asymmetric hysteresis behaviour due to the nonlinear voltage-strain behaviour of the actuator. A linearization filter placed in series with the actuator (during its operation) ensures a symmetric hysteresis characteristic that can then be modelled using an ellipse-based approach. Elliptical models come in many forms with the two most popular being the constrained general conic form and the general parametric form. Elliptical-based hysteresis model fits are carried out on experimental data obtained from the application of periodic input voltages, at a number of different low-frequencies, to the tubular actuator. The range of frequencies used is related to the possible use of the tubular actuator for attenuating low frequency vibration during DE actuator-based load positioning applications. Constrained conic and general parametric forms of elliptical model are used for modelling the hysteresis characteristics of the DE actuator and rate dependent models developed based on both approaches. The sensitivity of both of these rate dependent models to small inaccuracies in model parameters was then investigated. The general parametric form was found to be more robust in this respect. C1 [Tian, Pengfei; Yu, Fei] Univ Southern Denmark, Mads Clausen Inst, Alsion 2, DK-6400 Sonderborg, Denmark. [Jones, Richard W.] Univ York, Dept Comp Sci, York YO10 5DD, N Yorkshire, England. [Tian, Pengfei] NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. RP Yu, F (reprint author), Univ Southern Denmark, Mads Clausen Inst, Alsion 2, DK-6400 Sonderborg, Denmark. EM pengfei.tian@nih.gov; richardwjones1014@hotmail.com; fei@mci.sdu.dk NR 37 TC 0 Z9 0 U1 2 U2 5 PU IOP PUBLISHING LTD PI BRISTOL PA TEMPLE CIRCUS, TEMPLE WAY, BRISTOL BS1 6BE, ENGLAND SN 0964-1726 EI 1361-665X J9 SMART MATER STRUCT JI Smart Mater. Struct. PD JUL PY 2016 VL 25 IS 7 AR 075038 DI 10.1088/0964-1726/25/7/075038 PG 11 WC Instruments & Instrumentation; Materials Science, Multidisciplinary SC Instruments & Instrumentation; Materials Science GA DT5IY UT WOS:000381517900041 ER PT J AU Bachran, C Leppla, SH AF Bachran, Christopher Leppla, Stephen H. TI Tumor Targeting and Drug Delivery by Anthrax Toxin SO TOXINS LA English DT Review DE drug delivery; immunotoxin; targeted toxin; cancer; tumor therapies ID CAPILLARY MORPHOGENESIS PROTEIN-2; THERAPY PRODUCES REGRESSIONS; PROTECTIVE ANTIGEN PORE; LETHAL FACTOR CLEAVES; CANCER-CELL-LINES; ATHYMIC NUDE-MICE; BACILLUS-ANTHRACIS; MAMMALIAN-CELLS; EDEMA TOXIN; IN-VIVO AB Anthrax toxin is a potent tripartite protein toxin from Bacillus anthracis. It is one of the two virulence factors and causes the disease anthrax. The receptor-binding component of the toxin, protective antigen, needs to be cleaved by furin-like proteases to be activated and to deliver the enzymatic moieties lethal factor and edema factor to the cytosol of cells. Alteration of the protease cleavage site allows the activation of the toxin selectively in response to the presence of tumor-associated proteases. This initial idea of re-targeting anthrax toxin to tumor cells was further elaborated in recent years and resulted in the design of many modifications of anthrax toxin, which resulted in successful tumor therapy in animal models. These modifications include the combination of different toxin variants that require activation by two different tumor-associated proteases for increased specificity of toxin activation. The anthrax toxin system has proved to be a versatile system for drug delivery of several enzymatic moieties into cells. This highly efficient delivery system has recently been further modified by introducing ubiquitin as a cytosolic cleavage site into lethal factor fusion proteins. This review article describes the latest developments in this field of tumor targeting and drug delivery. C1 [Bachran, Christopher] BioMed X Innovat Ctr, D-69120 Heidelberg, Germany. [Leppla, Stephen H.] NIAID, Parasit Dis Lab, NIH, Bethesda, MD 20892 USA. RP Bachran, C (reprint author), BioMed X Innovat Ctr, D-69120 Heidelberg, Germany. EM bachran@bio.mx; sleppla@niaid.nih.gov FU Intramural Research Program of the National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, USA FX This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, USA. NR 99 TC 1 Z9 1 U1 11 U2 11 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 2072-6651 J9 TOXINS JI Toxins PD JUL PY 2016 VL 8 IS 7 AR 197 DI 10.3390/toxins8070197 PG 16 WC Toxicology SC Toxicology GA DS4PU UT WOS:000380763800007 ER PT J AU Forman-Hoffman, VL Hedden, SL Glasheen, C Davies, C Colpe, LJ AF Forman-Hoffman, Valerie L. Hedden, Sarra L. Glasheen, Cristie Davies, Christine Colpe, Lisa J. TI The role of mental illness on cigarette dependence and successful quitting in a nationally representative, household-based sample of US adults SO ANNALS OF EPIDEMIOLOGY LA English DT Article DE Cigarette smoking; Tobacco use disorder; Smoking cessation; Mental disorders ID NONSPECIFIC PSYCHOLOGICAL DISTRESS; HEALTH INTERVIEW SURVEY; SMOKING-CESSATION; UNITED-STATES; NICOTINE DEPENDENCE; FAGERSTROM TEST; TOBACCO USE; PSYCHIATRIC-DISORDERS; ADDICTIVE DISORDERS; DRUG-USE AB Purpose: To begin to explore whether the association between mental illness (MI), cigarette dependence, and unsuccessful quit attempts differs across particular demographic subgroups. Methods: This study examines data from adults aged 18 years or older participating in the 2008-2012 National Surveys on Drug Use and Health. Analyses explored the moderating effects of age, gender, and race and/or ethnicity on associations between three levels of MI: (serious mental illness [SMI], any mental illness but no SMI, and no MI) and two smoking-related outcomes (cigarette dependence among current smokers and successful quitting among ever daily smokers). Results: After confirming that adults with MI were more likely to be dependent on cigarettes and less likely to successfully quit smoking, particularly among those with SMI, adjusted analyses indicated that age (but not gender or race/ethnicity) moderated the associations between MI and cigarette dependence and between MI. Conclusions: The magnitude of the association between MI and cigarette dependence and between MI and successful quitting appears to be stronger among older adults than among younger adults. Identifying subgroups at particular high risk of cigarette dependence is paramount to targeting smoking prevention, cessation, and treatment services appropriately. Published by Elsevier Inc. C1 [Forman-Hoffman, Valerie L.; Glasheen, Cristie; Davies, Christine] RTI Int, Res Triangle Pk, NC USA. [Hedden, Sarra L.] SAMHSA, Subst Abuse & Mental Hlth Serv Adm, Ctr Behav Hlth Stat & Qual, Rockville, MD USA. [Colpe, Lisa J.] NIMH, Div Serv & Intervent Res, 6001 Execut Blvd, Bethesda, MD 20892 USA. RP Colpe, LJ (reprint author), NIMH, Div Serv & Intervent Res, 6001 Execut Blvd, Bethesda, MD 20892 USA. EM lcolpe@mail.nih.gov OI Glasheen, Cristie/0000-0003-4419-9659 FU NIMH; SAMHSA; [HHSS283201300001 C] FX This work was supported by NIMH and SAMHSA and funded through contract HHSS283201300001 C. NR 43 TC 1 Z9 1 U1 3 U2 3 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1047-2797 EI 1873-2585 J9 ANN EPIDEMIOL JI Ann. Epidemiol. PD JUL PY 2016 VL 26 IS 7 BP 447 EP 454 DI 10.1016/j.annepidem.2016.05.004 PG 8 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA DS6BL UT WOS:000380866600001 PM 27247163 ER PT J AU Dahle, O Kuehn, MR AF Dahle, Oyvind Kuehn, Michael R. TI Inhibiting Smad2/3 Signaling in Pluripotent Mouse Embryonic Stem Cells Enhances Endoderm Formation by Increasing Transcriptional Priming of Lineage-Specifying Target Genes SO DEVELOPMENTAL DYNAMICS LA English DT Article DE Smad2/3; nodal signaling; embryonic stem cells; pluripotency; transcriptional priming; Prdm14; Jarid2; polycomb repressive complex 2 ID HISTONE DEMETHYLASE JMJD3; RNA-POLYMERASE-II; NAIVE PLURIPOTENCY; DIFFERENTIATION; PRDM14; JARID2; STATE AB Background: Pluripotent embryonic stem cells (ESCs) offer great potential for regenerative medicine. However, efficient in vitro generation of specific desired cell types is still a challenge. We previously established that Smad2/3 signaling, essential for endoderm formation, regulates target gene expression by counteracting epigenetic repression mediated by Polycomb Repressive Complex 2 (PRC2). Although this mechanism has been demonstrated during differentiation and reprogramming, little is known of its role in pluripotent cells. Results: Chromatin immunoprecipitation-deep sequencing of undifferentiated mouse ESCs inhibited for Smad2/3 signaling identified Prdm14, important for protecting pluripotency, as a target gene. Although Prdm14 accumulates the normally repressive PRC2 deposited histone modification H3K27me3 under these conditions, surprisingly, expression increases. Analysis indicates that increased H3K27me3 leads to increased binding of PRC2 accessory component Jarid2 and recruitment of RNA polymerase II. Similar increases were found at the Nodal endoderm target gene Eomes but it remained unexpressed in pluripotent cells as normal. Upon differentiation, however, Eomes expression was significantly higher than in cells that had not been inhibited for signaling before differentiation. In addition, endoderm formation was markedly increased. Conclusions: Blocking Smad2/3 signaling in pluripotent stem cells results in epigenetic changes that enhance the capacity for endoderm differentiation. (C) 2016 Wiley Periodicals, Inc. C1 [Dahle, Oyvind; Kuehn, Michael R.] NCI, Basic Res Lab, NIH, Frederick, MD 21701 USA. RP Kuehn, MR (reprint author), NCI, Frederick, MD 21702 USA. EM mkuehn@mail.nih.gov FU National Cancer Institute, National Institutes of Health FX Grant sponsor: the Intramural Research Program of the National Cancer Institute, National Institutes of Health. NR 21 TC 0 Z9 0 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1058-8388 EI 1097-0177 J9 DEV DYNAM JI Dev. Dyn. PD JUL PY 2016 VL 245 IS 7 SI SI BP 807 EP 815 DI 10.1002/DVDY.24407 PG 9 WC Anatomy & Morphology; Developmental Biology SC Anatomy & Morphology; Developmental Biology GA DT8AJ UT WOS:000381709600011 PM 27012147 ER PT J AU Arbore, G Kemper, C AF Arbore, Giuseppina Kemper, Claudia TI A novel "complement-metabolism-inflammasome axis" as a key regulator of immune cell effector function SO EUROPEAN JOURNAL OF IMMUNOLOGY LA English DT Review DE Complement; Metabolism; NLRP3 inflammasome ID CD4(+) T-CELLS; NLRP3 INFLAMMASOME; MEDIATED INFLAMMATION; DIABETIC-NEPHROPATHY; IL-1-BETA SECRETION; PATTERN-RECOGNITION; INNATE IMMUNITY; HUMAN-MONOCYTES; CUTTING EDGE; IFN-GAMMA AB The inflammasomes are intracellular multiprotein complexes that induce and regulate the generation of the key pro-inflammatory cytokines IL-1 beta and IL-18 in response to infectious microbes and cellular stress. The activation of inflammasomes involves several upstream signals including classic pattern or danger recognition systems such as the TLRs. Recently, however, the activation of complement receptors, such as the anaphylatoxin C3a and C5a receptors and the complement regulator CD46, in conjunction with the sensing of cell metabolic changes, for instance increased amino acid influx and glycolysis (via mTORC1), have emerged as additional critical activators of the inflammasome. This review summarizes recent advances in our knowledge about complement-mediated inflammasome activation, with a specific focus on a novel " complement - metabolism - NLRP3 inflammasome axis." C1 [Arbore, Giuseppina; Kemper, Claudia] Kings Coll London, Div Transplant Immunol & Mucosal Biol, MRC Ctr Transplantat, London SE1 9RT, England. [Kemper, Claudia] NHLBI, Lab Mol Immunol, NIH, Bldg 10, Bethesda, MD 20892 USA. [Kemper, Claudia] NHLBI, Ctr Immunol, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Kemper, C (reprint author), Kings Coll London, Div Transplant Immunol & Mucosal Biol, MRC Ctr Transplantat, London SE1 9RT, England. EM Claudia.kemper@kcl.ac.uk FU MRC Centre [MR/J006742/1]; EU; Wellcome Trust Investigator Award; King's Bioscience Institute at King's College London; National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St. Thomas' NHS Foundation Trust and King's College London; Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH; intramural research program of NIAID, NIH FX Work in the Kemper laboratory is supported by the MRC Centre. Grant MR/J006742/1, an EU-funded Innovative Medicines Initiative BTCURE (C.K.), a Wellcome Trust Investigator Award (C.K.), and the King's Bioscience Institute at King's College London (G.A.), the National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St. Thomas' NHS Foundation Trust and King's College London, and by the Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH and the intramural research program of NIAID, NIH. NR 92 TC 5 Z9 5 U1 5 U2 7 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0014-2980 EI 1521-4141 J9 EUR J IMMUNOL JI Eur. J. Immunol. PD JUL PY 2016 VL 46 IS 7 BP 1563 EP 1573 DI 10.1002/eji.201546131 PG 11 WC Immunology SC Immunology GA DS4LM UT WOS:000380752600004 PM 27184294 ER PT J AU Bode, C Fox, M Tewary, P Steinhagen, A Ellerkmann, RK Klinman, D Baumgarten, G Hornung, V Steinhagen, F AF Bode, Christian Fox, Mario Tewary, Poonam Steinhagen, Almut Ellerkmann, Richard K. Klinman, Dennis Baumgarten, Georg Hornung, Veit Steinhagen, Folkert TI Human plasmacytoid dentritic cells elicit a Type I Interferon response by sensing DNA via the cGAS-STING signaling pathway SO EUROPEAN JOURNAL OF IMMUNOLOGY LA English DT Article DE Cytosolic sensor; Dentritic cells; DNA; Innate immunity; Interferon; Toll-like-receptors ID CYCLIC GMP-AMP; DENDRITIC CELLS; CYTOSOLIC DNA; ANTIVIRAL DEFENSE; IMMUNE-SYSTEM; IFN-BETA; RECOGNITION; 2ND-MESSENGER; ACTIVATION; SYNTHASE AB Plasmacytoid dendritic cells (pDCs) are a major source of type I interferon (IFN) and are important for host defense by sensing microbial DNA via TLR9. pDCs also play a critical role in the pathogenesis of IFN-driven autoimmune diseases. Yet, this autoimmune reaction is caused by the recognition of self-DNA and has been linked to TLR9-independent pathways. Increasing evidence suggests that the cytosolic DNA receptor cyclic GMP-AMP (cGAMP) synthase (cGAS) is a critical component in the detection of pathogens and contributes to autoimmune diseases. It has been shown that binding of DNA to cGAS results in the synthesis of cGAMP and the subsequent activation of the stimulator of interferon genes (STING) adaptor to induce IFNs. Our results show that the cGAS-STING pathway is expressed and activated in human pDCs by cytosolic DNA leading to a robust type I IFN response. Direct activation of STING by cyclic dinucleotides including cGAMP also activated pDCs and knockdown of STING abolished this IFN response. These results suggest that pDCs sense cytosolic DNA and cyclic dinucleotides via the cGAS-STING pathway and that targeting this pathway could be of therapeutic interest. C1 [Bode, Christian; Fox, Mario; Ellerkmann, Richard K.; Baumgarten, Georg; Steinhagen, Folkert] Univ Bonn, Dept Anesthesiol & Crit Care Med, D-53127 Bonn, Germany. [Tewary, Poonam] FNLCR, Expt Immunol Lab, Canc Inflammat Program, Leidos Biomed Res Inc, Frederick, MD USA. [Klinman, Dennis] NCI, Canc & Inflammat Program, Ctr Canc Res, Frederick, MD 21701 USA. [Steinhagen, Almut] Univ Bonn, Inst Clin Chem & Clin Pharmacol, Bonn, Germany. [Hornung, Veit] Univ Bonn, Inst Mol Med, Bonn, Germany. RP Bode, C; Steinhagen, F (reprint author), Univ Bonn, Dept Anesthesiol & Crit Care Med, D-53127 Bonn, Germany. EM christian.bode@ukb.uni-bonn.de; folkert.steinhagen@ukb.uni-bonn.de FU University of Bonn (BONFOR); National Cancer Institute, National Institutes of Health [HHSN26120080001E]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research FX This study was supported by grants from the University of Bonn (BONFOR). The authors would like to thank Dr. T. Maeda and Dr. S. Kamihira (Department of Island Medicine, Nagasaki University, Japan) for providing CAL-1 cells. This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under contract HHSN26120080001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. This Research was supported [in part] by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. NR 36 TC 2 Z9 2 U1 4 U2 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0014-2980 EI 1521-4141 J9 EUR J IMMUNOL JI Eur. J. Immunol. PD JUL PY 2016 VL 46 IS 7 BP 1615 EP 1621 DI 10.1002/eji.201546113 PG 7 WC Immunology SC Immunology GA DS4LM UT WOS:000380752600010 PM 27125983 ER PT J AU Kim, HK Waickman, AT Castro, E Flomerfelt, FA Hawk, NV Kapoor, V Telford, WG Gress, RE AF Kim, Hye Kyung Waickman, Adam T. Castro, Ehydel Flomerfelt, Francis A. Hawk, Nga V. Kapoor, Veena Telford, William G. Gress, Ronald E. TI Distinct IL-7 signaling in recent thymic emigrants versus mature naive T cells controls T-cell homeostasis SO EUROPEAN JOURNAL OF IMMUNOLOGY LA English DT Article DE Apoptosis; Bcl-2; Cytokine; Proliferation; STAT5 ID IN-VIVO; CYCLE PROGRESSION; RECEPTOR-ALPHA; PROLIFERATION; EXPRESSION; SURVIVAL; INTERLEUKIN-7; PHENOTYPE; DEATH; MICE AB IL-7 is essential for T-cell survival but its availability is limited in vivo. Consequently, all peripheral T cells, including recent thymic emigrants (RTEs) are constantly competing for IL-7 to survive. RTEs are required to replenish TCR diversity and rejuvenate the peripheral T-cell pool. However, it remains unknown how RTEs successfully compete with resident mature T cells for IL-7. Moreover, RTEs express low levels of IL-7 receptors, presumably rendering them even less competitive. Here, we show that, surprisingly, RTEs are more responsive to IL-7 than mature naive T cells as demonstrated by markedly increased STAT5 phosphorylation upon IL-7 stimulation. Nonetheless, adoptive transfer of RTE cells into lymphopenic host mice resulted in slower IL-7-induced homeostatic proliferation and diminished expansion compared to naive donor T cells. Mechanistically, we found that IL-7 signaling in RTEs preferentially upregulated expression of Bcl-2, which is antiapoptotic but also anti-proliferative. In contrast, naive T cells showed diminished Bcl-2 induction but greater proliferative response to IL-7. Collectively, these data indicate that IL-7 responsiveness in RTE is designed to maximize survival at the expense of reduced proliferation, consistent with RTE serving as a subpopulation of T cells rich in diversity but not in frequency. C1 [Kim, Hye Kyung; Castro, Ehydel; Flomerfelt, Francis A.; Hawk, Nga V.; Kapoor, Veena; Telford, William G.; Gress, Ronald E.] Expt Transplantat & Immunol Branch, Bethesda, MD USA. [Waickman, Adam T.] NCI, Expt Immunol Branch, Ctr Canc Res, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Waickman, AT (reprint author), NCI, Expt Immunol Branch, Ctr Canc Res, NIH, Bldg 10, Bethesda, MD 20892 USA.; Kim, HK (reprint author), NCI, Expt Transplantat & Immunol Branch, Ctr Canc Res, NIH, Bldg 10 CRC,Room 3E-3288,10 Ctr, Bethesda, MD 20892 USA. EM kihye@mail.nih.gov; adam.waickman@nih.gov FU Intramural Research Program of the US National Institutes of Health; National Cancer Institute; Center for Cancer Research FX We thank Dr. Hyun Park for critical review of this manuscript. This study was supported by the Intramural Research Program of the US National Institutes of Health, the National Cancer Institute, and the Center for Cancer Research. NR 54 TC 1 Z9 1 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0014-2980 EI 1521-4141 J9 EUR J IMMUNOL JI Eur. J. Immunol. PD JUL PY 2016 VL 46 IS 7 BP 1669 EP 1680 DI 10.1002/eji.201546214 PG 12 WC Immunology SC Immunology GA DS4LM UT WOS:000380752600015 PM 27129922 ER PT J AU Burotto, M Berkovits, A Dunleavy, K AF Burotto, Mauricio Berkovits, Alejandro Dunleavy, Kieron TI Double hit lymphoma: from biology to therapeutic implications SO EXPERT REVIEW OF HEMATOLOGY LA English DT Review DE Double-hit; MYC; BCL2; BCL6; triple-hit; BCL2 inhibitors; MYC inhibitors; double-expresser; DPE; DHL ID B-CELL LYMPHOMA; RITUXIMAB PLUS CYCLOPHOSPHAMIDE; NON-HODGKINS-LYMPHOMA; BURKITT-LYMPHOMA; C-MYC; MOLECULAR SUBTYPES; GENE-EXPRESSION; GERMINAL CENTER; PROGNOSTIC-SIGNIFICANCE; PROTEIN EXPRESSION AB Introduction: Diffuse large B-cell lymphoma (DLBCL) is a molecularly heterogeneous disease defined by different cellular origins and mechanisms of oncogenic activation. Approximately 10% of DLBCL cases harbor a MYC rearrangement and this has been associated with a more aggressive clinical course following standard therapy.Areas covered: So-called double-hit lymphomas' (DHL) or triple hit lymphomas' (THL) occur when MYC is concurrently rearranged with BCL2 and/or BCL6. These tumors are characterized by high proliferation rate and a very poor outcome following standard R-CHOP (rituximab, cyclophosphamide, doxorubicin vincristine and prednisone) therapy, in most (though not all) studies that have looked at this. Though there is a paucity of published experience with other chemotherapy regimens, there is emerging evidence that more intensive approaches may improve outcome. Recently, there has been a lot of focus in the literature on double-expresser lymphomas' (DEL) with high MYC, BCL2 and/or BCL6 expression but typically without rearrangements of these genes. These DEL cases, have a poor outcome with R-CHOP and there is little consensus on how they should be approached.Expert commentary: This review will focus on the biology and treatment of DHL and DEL, discuss the outcome of these diseases with current standard as well as promising new approaches and conclude with a section on novel agents that are in development for these diseases. C1 [Burotto, Mauricio; Berkovits, Alejandro] Univ Desarrollo, Sch Med, Hemato Oncol Serv, Clin Alemana Santiago, Santiago, Chile. [Dunleavy, Kieron] NCI, Lymphoid Malignancies Branch, Ctr Canc Res, Bethesda, MD 20892 USA. RP Dunleavy, K (reprint author), NCI, Lymphoid Malignancy Branch, Bldg 10,Room 4N 115,9000 Rockville Pike, Bethesda, MD 20892 USA. EM dunleavk@mail.nih.gov FU intramural program of the National Cancer Institute FX This work was partly supported by the intramural program of the National Cancer Institute. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. NR 92 TC 1 Z9 1 U1 2 U2 4 PU TAYLOR & FRANCIS LTD PI ABINGDON PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND SN 1747-4086 EI 1747-4094 J9 EXPERT REV HEMATOL JI Expert Rev. Hematol. PD JUL PY 2016 VL 9 IS 7 BP 669 EP 678 DI 10.1080/17474086.2016.1182858 PG 10 WC Hematology SC Hematology GA DR8LQ UT WOS:000380149800008 PM 27166590 ER PT J AU Chlanda, P Zimmerberg, J AF Chlanda, Petr Zimmerberg, Joshua TI Protein-lipid interactions critical to replication of the influenza A virus SO FEBS LETTERS LA English DT Review DE influenza virus; lipid microdomains; membrane fission; membrane fusion; virus budding; virus entry ID HEMAGGLUTININ FUSION PEPTIDE; MEMBRANE-FUSION; M2 PROTEIN; MATRIX PROTEIN; CHOLESTEROL-BINDING; CYTOPLASMIC TAIL; PLASMA-MEMBRANE; M1 PROTEIN; LOW PH; CRYOELECTRON TOMOGRAPHY AB Influenza A virus (IAV) assembles on the plasma membrane where viral proteins localize to form a bud encompassing the viral genome, which ultimately pinches off to give rise to newly formed infectious virions. Upon entry, the virus faces the opposite task-fusion with the endosomal membrane and disassembly to deliver the viral genome to the cytoplasm. There are at least four influenza proteins-hemagglutinin (HA), neuraminidase (NA), matrix 1 protein (M1), and the M2 ion channel-that are known to directly interact with the cellular membrane and modify membrane curvature in order to both assemble and disassemble membrane-enveloped virions. Here, we summarize and discuss current knowledge of the interactions of lipids and membrane proteins involved in the IAV replication cycle. C1 [Chlanda, Petr; Zimmerberg, Joshua] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Integrat Biophys, NIH, Bethesda, MD 20892 USA. RP Zimmerberg, J (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Integrat Biophys, NIH, Bethesda, MD 20892 USA. EM joshz@helix.nih.gov FU Division of Intramural Research of the NICHD; Intramural Research Program of the NIH FX We thank to Mary L. Kraft for kindly providing the nano-SIMS figure and Samuel T. Hess for useful suggestions. We are grateful to members of the Zimmerberg lab and to Fredric S. Cohen for critical reading of the manuscript. We sincerely apologize to all scientists whose important work could not be cited here due to space restrictions. This work was supported by the Division of Intramural Research of the NICHD, in the Intramural Research Program of the NIH. NR 103 TC 2 Z9 2 U1 10 U2 12 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0014-5793 EI 1873-3468 J9 FEBS LETT JI FEBS Lett. PD JUL PY 2016 VL 590 IS 13 SU 3 SI SI BP 1940 EP 1954 DI 10.1002/1873-3468.12118 PG 15 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA DS4OQ UT WOS:000380760800007 PM 26921878 ER PT J AU Mooney, LJ Hillhouse, MP Thomas, C Ang, A Sharma, G Terry, G Chang, L Walker, R Trivedi, M Croteau, D Sparenborg, S Ling, W AF Mooney, Larissa J. Hillhouse, Maureen P. Thomas, Christie Ang, Alfonso Sharma, Gaurav Terry, Garth Chang, Linda Walker, Robrina Trivedi, Madhukar Croteau, David Sparenborg, Steven Ling, Walter TI Utilizing a Two-stage Design to Investigate the Safety and Potential Efficacy of Monthly Naltrexone Plus Once-daily Bupropion as a Treatment for Methamphetamine Use Disorder SO JOURNAL OF ADDICTION MEDICINE LA English DT Article DE bupropion; extended-release naltrexone; medication treatment; methamphetamine dependence; pharmacotherapy; Vivitrol ID PLACEBO-CONTROLLED TRIAL; DEPENDENCE; INTERVENTIONS; AMPHETAMINE; ANTAGONIST; MANAGEMENT; BEHAVIOR; OUTCOMES AB Objectives: This 2-stage open-label pilot study evaluated the safety and potential efficacy of naltrexone + bupropion as a pharmacotherapy for methamphetamine (MA) use disorder. Methods: The study was conducted in 2 stages of recruitment across 3 sites; 20 participants were enrolled in stage 1 and 29 participants were enrolled in stage 2. Eight weeks of open-label pharmacotherapy with a combination of extended-release injectable naltrexone (XR-NTX; Vivitrol) plus extended-release oral bupropion (BRP; Wellbutrin XL) were provided with a smartphone-assisted medication adherence platform. Participants met Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria for severe MA use disorder, self-reported >= 20 days of MA use in the 30 days prior to consent, and submitted 3 MA-positive urine drug screens (UDS) out of 4 collected during screening. Participants attended clinic twice weekly for observed BRP dosing, UDS testing, assessments, and medical management; XR-NTX was administered at weeks 1 and 5. A BRP taper and follow-up visit occurred in week 9. Results: Analyses evaluated effects of XR-NTX+BRP to determine the number of "responders" according to a statistically pre-defined response criterion (6 of 8 MA-negative UDS during the last 4 weeks of medication). The 2-stage design required that stage 1 yield >= 3 responders to continue to stage 2; 11 of the 49 participants met responder criteria across both stages (5 in stage 1, 6 in stage 2). Conclusions: Under the statistical analysis plan, study "success" required >= 9 responders. With 11 responders, the study demonstrated sufficient potential of naltrexone plus bupropion as a combination pharmacotherapy for MA use disorder to warrant further study. C1 [Mooney, Larissa J.; Hillhouse, Maureen P.; Thomas, Christie; Ang, Alfonso; Terry, Garth; Ling, Walter] Univ Calif Los Angeles, Los Angeles, CA USA. [Sharma, Gaurav; Croteau, David] Emmes, Rockville, MD USA. [Chang, Linda] Univ Hawaii, Honolulu, HI 96822 USA. [Chang, Linda] Queens Med Ctr, Honolulu, HI USA. [Walker, Robrina; Trivedi, Madhukar] Univ Texas Southwestern Med Ctr, Dallas, TX USA. [Sparenborg, Steven] NIDA, Bethesda, MD 20892 USA. RP Mooney, LJ (reprint author), UCLA Integrated Subst Abuse Programs, 11075 Santa Monica Blvd,Suite 200, Los Angeles, CA 90025 USA. EM lmooney@mednet.ucla.edu RI Emchi, Karma/Q-1952-2016 FU National Institute on Drug Abuse [DA13045] FX Alkermes Inc. (Waltham, MA) provided monthly naltrexone (Vivitrol). Support for this research was provided through the National Institute on Drug Abuse (DA13045). NR 37 TC 0 Z9 0 U1 6 U2 6 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1932-0620 EI 1935-3227 J9 J ADDICT MED JI J. Addict. Med. PD JUL-AUG PY 2016 VL 10 IS 4 BP 236 EP 243 DI 10.1097/ADM.0000000000000218 PG 8 WC Substance Abuse SC Substance Abuse GA DS5SL UT WOS:000380842500004 PM 27379819 ER PT J AU Trigo, JM Soliman, A Staios, G Quilty, L Fischer, B George, TP Rehm, J Selby, P Barnes, AJ Huestis, MA Le Foll, B AF Trigo, Jose M. Soliman, Alexandra Staios, Gregory Quilty, Lena Fischer, Benedikt George, Tony P. Rehm, Juergen Selby, Peter Barnes, Allan J. Huestis, Marilyn A. Le Foll, Bernard TI Sativex Associated With Behavioral-Relapse Prevention Strategy as Treatment for Cannabis Dependence: A Case Series SO JOURNAL OF ADDICTION MEDICINE LA English DT Article DE Abstinence; cannabidiol; cannabis; marijuana; THC; withdrawal ID MASS-SPECTROMETRY; DELTA-9-TETRAHYDROCANNABINOL; WITHDRAWAL; QUANTIFICATION; CHROMATOGRAPHY; INDIVIDUALS; PSYCHOSIS; SEEKING; ADULTS; THC AB Objectives: Cannabis is the most commonly used illicit drug; a substantial minority of users develop dependence. The current lack of pharmacological treatments for cannabis dependence warrants the use of novel approaches and further investigation of promising pharmacotherapy. In this case series, we assessed the use of self-titrated dosages of Sativex (1: 1, Delta(9)-tetrahydrocannabinol [THC]/cannabidiol [CBD] combination) and motivational enhancement therapy and cognitive behavioral therapy (MET/CBT) for the treatment of cannabis dependence among 5 treatment-seeking community-recruited cannabis-dependent subjects. Methods: Participants underwent a 3-month open-label self-titration phase with Sativex (up to 113.4 of THC/105 mg of CBD) and weekly MET/CBT, with a 3-month follow-up. Results: Sativex was well-tolerated by all participants (average dosage 77.5 THC/71.7mg CBD). The combination of Sativex and MET/CBT reduced the amount of cannabis use and progressively reduced craving and withdrawal scores. THC/CBD metabolite concentration indicated reduced cannabis use and compliance with medication. Conclusions: In summary, this pilot study found that with Sativex in combination with MET/CBT reduced cannabis use while preventing increases in craving and withdrawal in the 4 participants completing the study. Further systematic exploration of Sativex as a pharmacological treatment option for cannabis dependence should be performed. C1 [Trigo, Jose M.; Soliman, Alexandra; Staios, Gregory; Le Foll, Bernard] Campbell Family Mental Hlth, Res Inst, Translat Addict Res Lab, Toronto, ON, Canada. [Quilty, Lena] CAMH, Clin Res, Toronto, ON, Canada. [Fischer, Benedikt; Rehm, Juergen] CAMH, Social & Epidemiol Res Dept, Toronto, ON, Canada. [George, Tony P.] CAMH, Schizophrenia Div, Toronto, ON, Canada. [George, Tony P.] CAMH, Complex Mental Illness Program, Toronto, ON, Canada. [Rehm, Juergen] Univ Toronto, Addict Policy, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada. [Fischer, Benedikt; Rehm, Juergen] Univ Toronto, Inst Med Sci, Fac Med, Toronto, ON, Canada. [Fischer, Benedikt; George, Tony P.; Rehm, Juergen; Selby, Peter] Univ Toronto, Dept Psychiat, Toronto, ON, Canada. [Rehm, Juergen] Tech Univ Dresden, Inst Clin Psychol & Psychotherapy, Dresden, Germany. [Rehm, Juergen] Tech Univ Dresden, Ctr Clin Epidemiol & Longitudinal Studies CELOS, Dresden, Germany. [Selby, Peter; Le Foll, Bernard] CAMH, Addict Div, Toronto, ON, Canada. [Selby, Peter] Univ Toronto, Dept Family & Community Med, Toronto, ON, Canada. [Fischer, Benedikt] Simon Fraser Univ, Ctr Appl Res Mental Hlth & Addict, Fac Hlth Sci, Vancouver, BC, Canada. [Barnes, Allan J.; Huestis, Marilyn A.] NIDA, Chem & Drug Metab, NIH, Baltimore, MD USA. RP Le Foll, B (reprint author), CAMH, Toronto, ON, Canada. EM bernard.lefoll@camh.ca FU National Institute On Drug Abuse of the National Institutes of Health [R21DA031906]; National Institute on Drug Abuse, NIH, DHHS FX Research reported in this publication was supported by the National Institute On Drug Abuse of the National Institutes of Health under Award Number R21DA031906 (to Dr Le Foll) and in part by Intramural Research Program of National Institute on Drug Abuse, NIH, DHHS. NR 28 TC 0 Z9 0 U1 1 U2 1 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1932-0620 EI 1935-3227 J9 J ADDICT MED JI J. Addict. Med. PD JUL-AUG PY 2016 VL 10 IS 4 BP 274 EP 279 DI 10.1097/ADM.0000000000000229 PG 6 WC Substance Abuse SC Substance Abuse GA DS5SL UT WOS:000380842500010 PM 27261670 ER PT J AU Flannery, M Mohile, SG Dale, W Arora, NK Azar, L Breslau, ES Cohen, HJ Dotan, E Eldadah, BA Leach, CR Mitchell, SA Rowland, JH Hurria, A AF Flannery, Marie Mohile, Supriya Gupta Dale, William Arora, Neeraj K. Azar, Lauren Breslau, Erica S. Cohen, Harvey Jay Dotan, Efrat Eldadah, Basil A. Leach, Corinne R. Mitchell, Sandra A. Rowland, Julia H. Hurria, Arti TI Interventions to improve the quality of life and survivorship of older adults with cancer: The funding landscape at NIH, ACS and PCORI SO JOURNAL OF GERIATRIC ONCOLOGY LA English DT Article DE Aging; Cancer; Older adults; Frail; Funding; NIH; ACS; PCORI; Survivorship; Quality of life ID TRIALS AB Identifying knowledge gaps and research opportunities in cancer and aging research was the focus of a three-part conference series led by the Cancer and Aging Research Group from 2010 to 2015. The third meeting, featured representatives from the NIA, NCI, ACS and PCORI each of whom discussed research priorities and funding opportunities in cancer and aging at their respective agencies. This manuscript reports on the proceedings of that conference with a specific focus on funding priorities for interventions to improve the quality of life and survivorship of older adults with cancer. Helpful tips from each funder regarding writing a scientifically strong research proposal are presented. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Flannery, Marie] Univ Rochester, Med Ctr, Box SON 601,Elmwood Ave, Rochester, NY 14642 USA. [Mohile, Supriya Gupta] Univ Rochester, 601 Elmwood Ave,Box 704, Rochester, NY 14642 USA. [Dale, William] Univ Chicago, Dept Med, Sect Geriatr & Palliat Med, MC 6098,5841 S Maryland Ave, Chicago, IL 60637 USA. [Arora, Neeraj K.] PCORI, 1919 M St,NW,Suite 250, Washington, DC 20036 USA. [Azar, Lauren] PCORI, 1919 M St,NW,4th Floor, Washington, DC 20036 USA. [Breslau, Erica S.] NCI, 9609 Med Ctr Dr,3E520, Rockville, MD 20850 USA. [Cohen, Harvey Jay] Duke Univ, Med Ctr, Room 3502 Blue Zone,Box 3003, Durham, NC 27710 USA. [Dotan, Efrat] Fox Chase Canc Ctr, 333 Cottman Ave, Philadelphia, PA USA. [Eldadah, Basil A.] NIA, 7201 Wisconsin Ave,3C307, Bethesda, MD 20892 USA. [Leach, Corinne R.] ACS, 250 Williams St, Atlanta, GA 30303 USA. [Mitchell, Sandra A.] NCI, 9609 Med Ctr Dr,3E448, Rockville, MD 20850 USA. [Rowland, Julia H.] NCI, 9609 Med Ctr Dr,4E450, Rockville, MD 20850 USA. [Hurria, Arti] City Hope Comprehens Canc Ctr, 1500 E Duarte Rd, Duarte, CA USA. RP Flannery, M (reprint author), Univ Rochester, Med Ctr, Box SON 601,Elmwood Ave, Rochester, NY 14642 USA. EM marie_flannery@urmc.rochester.edu; supriya_mohile@urmc.rochester.edu; wdale@medicine.bsd.uchicago.edu; narora@pcori.org; lholuj@pcori.org; breslaue@mail.nih.gov; efrat.dotan@fccc.edu; eldadahb@nia.nih.gov; corinne.leach@cancer.org; mitchlls@mail.nih.gov; rowlandj@mail.nih.gov; ahurria@coh.org FU NCI NIH HHS [R25 CA102618, UG1 CA189961, R01 CA177592, UG1 CA189823]; NIA NIH HHS [U13 AG038151, R03 AG042342] NR 11 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 1879-4068 EI 1879-4076 J9 J GERIATR ONCOL JI J. Geriatr. Oncol. PD JUL PY 2016 VL 7 IS 4 SI SI BP 225 EP 233 DI 10.1016/j.jgo.2016.02.001 PG 9 WC Oncology; Geriatrics & Gerontology SC Oncology; Geriatrics & Gerontology GA DS7NP UT WOS:000380970500002 PM 27197917 ER PT J AU Berger, A AF Berger, Ann TI "Mother MD Intense": The Need for Intentional Healing SO JOURNAL OF PAIN AND SYMPTOM MANAGEMENT LA English DT Editorial Material C1 [Berger, Ann] NIH, Ctr Clin, 10 Ctr Dr,Bldg 10,Room 21733, Bethesda, MD 20892 USA. RP Berger, A (reprint author), NIH, Ctr Clin, 10 Ctr Dr,Bldg 10,Room 21733, Bethesda, MD 20892 USA. EM aberger@cc.nih.gov NR 2 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0885-3924 EI 1873-6513 J9 J PAIN SYMPTOM MANAG JI J. Pain Symptom Manage. PD JUL PY 2016 VL 52 IS 1 BP 151 EP 153 DI 10.1016/j.jpainsymman.2016.05.006 PG 3 WC Health Care Sciences & Services; Medicine, General & Internal; Clinical Neurology SC Health Care Sciences & Services; General & Internal Medicine; Neurosciences & Neurology GA DT7QS UT WOS:000381681900020 PM 27256617 ER PT J AU Nath, A Griffin, DE AF Nath, Avindra Griffin, Diane E. TI Dedication to Dr. Richard T. Johnson SO NEUROTHERAPEUTICS LA English DT Biographical-Item C1 [Nath, Avindra] NINDS, Sect Infect Nervous Syst, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Griffin, Diane E.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mol Microbiol & Immunol, Baltimore, MD USA. RP Nath, A (reprint author), NINDS, Sect Infect Nervous Syst, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. EM avindra.nath@nih.gov; dgriffi6@jhmi.edu NR 1 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 451 EP 452 DI 10.1007/s13311-016-0456-0 PG 2 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400001 PM 27365084 ER PT J AU Nath, A Jacobson, S AF Nath, Avindra Jacobson, Steven TI Current Status, Future Directions and Challenges in Management of CNS Viral Infections SO NEUROTHERAPEUTICS LA English DT Editorial Material C1 [Jacobson, Steven] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. RP Jacobson, S (reprint author), NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. EM avi1258@gmail.com NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 453 EP 454 DI 10.1007/s13311-016-0459-x PG 2 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400002 PM 27388287 ER PT J AU Billioux, BJ Smith, B Nath, A AF Billioux, Bridgette Jeanne Smith, Bryan Nath, Avindra TI Neurological Complications of Ebola Virus Infection SO NEUROTHERAPEUTICS LA English DT Review DE Ebola; meningitis; encephalitis; microvascular disease; deafness; vertigo; insomnia; cognition; magnetic resonance imaging ID HEMORRHAGIC-FEVER; WEST-AFRICA; NONHUMAN-PRIMATES; SIERRA-LEONE; DISEASE; TRANSMISSION; CONGO; MARBURG; KIKWIT; MANAGEMENT AB Ebola virus disease is one of the deadliest pathogens known to man, with a mortality rate between 25-90% depending on the species and outbreak of Ebola. Typically, it presents with fever, headache, voluminous vomiting and diarrhea, and can progress to a hemorrhagic illness; neurologic symptoms, including meningoencephalitis, seizures, and coma, can also occur. Recently, an outbreak occurred in West Africa, affecting > 28,000 people, and killing > 11,000. Owing to the magnitude of this outbreak, and the large number (> 17,000) of Ebola survivors, the medical and scientific communities are learning much more about the acute manifestations and sequelae of Ebola. A number of neurologic complications can occur after Ebola, such as seizures, memory loss, headaches, cranial nerve abnormalities, and tremor. Ebola may also persist in some immunologically privileged sites, including the central nervous system, and can rarely lead to relapse in disease. Owing to these findings, it is important that survivors are evaluated and monitored for neurologic symptoms. Much is unknown about this disease, and treatment remains largely supportive; however, with ongoing clinical and basic science, the mechanisms of how Ebola affects the central nervous system and how it persists after acute disease will hopefully become more clear, and better treatments and clinical practices for Ebola patients will be developed. C1 [Billioux, Bridgette Jeanne; Smith, Bryan; Nath, Avindra] NINDS, Sect Infect Nervous Syst, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. RP Nath, A (reprint author), NINDS, Sect Infect Nervous Syst, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. EM natha@ninds.nih.gov OI Billioux, Bridgette Jeanne/0000-0003-4208-7100 NR 55 TC 0 Z9 0 U1 7 U2 8 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 461 EP 470 DI 10.1007/s13311-016-0457-z PG 10 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400004 PM 27412684 ER PT J AU Anderson, MR Kashanchi, F Jacobson, S AF Anderson, Monique R. Kashanchi, Fatah Jacobson, Steven TI Exosomes in Viral Disease SO NEUROTHERAPEUTICS LA English DT Review DE Exosomes; microvesicles; multivesicular bodies; "back fusion"; ESCRT ID CELL-DERIVED EXOSOMES; MATURE DENDRITIC CELLS; STRUCTURES L-PARTICLES; HEPATITIS-C VIRUS; EXTRACELLULAR VESICLES; T-CELLS; SECRETE EXOSOMES; EBOLA-VIRUS; DC-SIGN; PHOSPHATIDYLSERINE RECEPTOR AB Viruses have evolved many mechanisms by which to evade and subvert the immune system to ensure survival and persistence. However, for each method undertaken by the immune system for pathogen removal, there is a counteracting mechanism utilized by pathogens. The new and emerging role of microvesicles in immune intercellular communication and function is no different. Viruses across many different families have evolved to insert viral components in exosomes, a subtype of microvesicle, with many varying downstream effects. When assessed cumulatively, viral antigens in exosomes increase persistence through cloaking viral genomes, decoying the immune system, and even by increasing viral infection in uninfected cells. Exosomes therefore represent a source of viral antigen that can be used as a biomarker for disease and targeted for therapy in the control and eradication of these disorders. With the rise in the persistence of new and reemerging viruses like Ebola and Zika, exploring the role of exosomes become more important than ever. C1 [Anderson, Monique R.; Jacobson, Steven] NINDS, NIH, Neuroimmunol Branch, Viral Immunol Sect, Bethesda, MD 20892 USA. [Anderson, Monique R.] Univ Virginia, Sch Med, Dept Pathol, Mol & Cellular Basis Dis Grad Program, Charlottesville, VA 22903 USA. [Kashanchi, Fatah] George Mason Univ, Natl Ctr Biodef & Infect Dis, Mol Virol Lab, Manassas, VA 20110 USA. RP Anderson, MR (reprint author), NINDS, NIH, Neuroimmunol Branch, Viral Immunol Sect, Bethesda, MD 20892 USA.; Anderson, MR (reprint author), Univ Virginia, Sch Med, Dept Pathol, Mol & Cellular Basis Dis Grad Program, Charlottesville, VA 22903 USA. EM andersonmr2@mail.nih.gov NR 149 TC 1 Z9 1 U1 7 U2 7 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 535 EP 546 DI 10.1007/s13311-016-0450-6 PG 12 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400010 PM 27324390 ER PT J AU Azodi, S Jacobson, S AF Azodi, Shila Jacobson, Steven TI Cytokine Therapies in Neurological Disease SO NEUROTHERAPEUTICS LA English DT Review DE Cytokine; anticytokine; neurology; drug development ID AMYOTROPHIC-LATERAL-SCLEROSIS; MYELOPATHY/TROPICAL SPASTIC PARAPARESIS; REMITTING MULTIPLE-SCLEROSIS; COLONY-STIMULATING FACTOR; MESSENGER-RNA EXPRESSION; DOUBLE-BLIND; NEUROMYELITIS-OPTICA; ALZHEIMERS-DISEASE; CEREBROSPINAL-FLUID; INFLAMMATORY MYOPATHIES AB Cytokines are a heterogeneous group of glycoproteins that coordinate physiological functions. Cytokine deregulation is observed in many neurological diseases. This article reviews current research focused on human clinical trials of cytokine and anticytokine therapies in the treatment of several neurological disease including stroke, neuromuscular diseases, neuroinfectious diseases, demyelinating diseases, and neurobehavioral diseases. This research suggests that cytokine therapy applications may play an important role in offering new strategies for disease modulation and treatment. Further, this research provides insights into the causal link between cytokine deregulation and neurological diseases. C1 [Azodi, Shila; Jacobson, Steven] NINDS, Viral Immunol Sect, NIH, Bethesda, MD 20892 USA. RP Jacobson, S (reprint author), NINDS, Viral Immunol Sect, NIH, Bethesda, MD 20892 USA. EM jacobsons@ninds.nih.gov NR 57 TC 1 Z9 1 U1 3 U2 3 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 555 EP 561 DI 10.1007/s13311-016-0455-1 PG 7 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400012 PM 27388288 ER PT J AU Leibovitch, EC Jacobson, S AF Leibovitch, Emily C. Jacobson, Steven TI Vaccinations for Neuroinfectious Disease: A Global Health Priority SO NEUROTHERAPEUTICS LA English DT Review DE Vaccines; Neuroinfectious; Neuroinvasive; Meningitis; Encephalitis; CNS infections ID CENTRAL-NERVOUS-SYSTEM; TICK-BORNE ENCEPHALITIS; VENEZUELAN EQUINE ENCEPHALITIS; JAPANESE ENCEPHALITIS; VIRUS-INFECTION; VACCINE STRAIN; DENGUE VACCINE; ZIKA VIRUS; COMPLICATIONS; MICE AB Vaccines for neuroinfectious diseases are becoming an ever-increasing global health priority, as neurologic manifestations and sequelae from existing and emerging central nervous system infections account for significant worldwide morbidity and mortality. The prevention of neurotropic infections can be achieved through globally coordinated vaccination campaigns, which have successfully eradicated nonzoonotic agents such as the variola viruses and, hopefully soon, poliovirus. This review discusses vaccines that are currently available or under development for zoonotic flaviviruses and alphaviruses, including Japanese and tick-borne encephalitis, yellow fever, West Nile, dengue, Zika, encephalitic equine viruses, and chikungunya. Also discussed are nonzoonotic agents, including measles and human herpesviruses, as well as select bacterial, fungal, and protozoal pathogens. While therapeutic vaccines will be required to treat a multitude of ongoing infections of the nervous system, the ideal vaccination strategy is pre-exposure vaccination, with the ultimate goals of minimizing disease associated with zoonotic viruses and the total eradication of nonzoonotic agents. C1 [Leibovitch, Emily C.; Jacobson, Steven] NINDS, Viral Immunol Sect, NIH, Bethesda, MD 20892 USA. [Leibovitch, Emily C.] George Washington Univ, Sch Med, Inst Biomed Sci, Washington, DC 20037 USA. RP Jacobson, S (reprint author), NINDS, Viral Immunol Sect, NIH, Bethesda, MD 20892 USA. EM jacobsons@ninds.nih.gov NR 74 TC 1 Z9 1 U1 55 U2 55 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 562 EP 570 DI 10.1007/s13311-016-0453-3 PG 9 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400013 PM 27365085 ER PT J AU Haubenberger, D Clifford, DB AF Haubenberger, Dietrich Clifford, David B. TI Clinical Trials in Neurovirology: Successes, Challenges, and Pitfalls SO NEUROTHERAPEUTICS LA English DT Review DE Clinical trials; randomization; methodology; statistics; ethics ID PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY; HERPES-SIMPLEX ENCEPHALITIS; AIDS DEMENTIA COMPLEX; ACQUIRED-IMMUNODEFICIENCY-SYNDROME; HIV-INFECTED INDIVIDUALS; PLACEBO-CONTROLLED TRIAL; CENTRAL-NERVOUS-SYSTEM; COMBINATION ANTIRETROVIRAL THERAPY; POLYMERASE-CHAIN-REACTION; CEREBROSPINAL-FLUID AB Clinical trials in neurovirology illustrate the special challenges confronting investigators planning to study these conditions, as well as the contributions of successful trials in establishing appropriate management for these devastating diseases. This article reviews key examples of progress in neurovirology that have been spurred by clinical trials, emphasizing human herpes virus encephalitis, HIV, and JC virus. Clinical trials in the setting of neurovirological diseases are characterized by specific challenges, which may include small sample sizes, clinical presentations from life-threatening conditions to chronic courses of disease, regional and temporally restricted outbreaks scenarios, and the unavailability of validated diagnostic tests that can be rapidly deployed at the bedside. This review aims to highlight these methodological challenges and pitfalls in designing and executing clinical neurovirology trials, as well as to outline innovative trial designs, which could be useful in addressing common challenges. C1 [Haubenberger, Dietrich] NINDS, Clin Trials Unit, Off Clin Director, Intramural Res Program,NIH, 9000 Rockville Pike,Rm 6-5700, Bethesda, MD 20892 USA. [Clifford, David B.] Washington Univ, Dept Neurol, Box 8111,660 S Euclid Ave, St Louis, MO 63110 USA. [Clifford, David B.] Washington Univ, Dept Med, Box 8111,660 S Euclid Ave, St Louis, MO 63110 USA. RP Haubenberger, D (reprint author), NINDS, Clin Trials Unit, Off Clin Director, Intramural Res Program,NIH, 9000 Rockville Pike,Rm 6-5700, Bethesda, MD 20892 USA. EM dietrich.haubenberger@nih.gov NR 82 TC 0 Z9 0 U1 1 U2 1 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 571 EP 581 DI 10.1007/s13311-016-0440-8 PG 11 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400014 PM 27194073 ER PT J AU Sibley, DR Free, RB Xiao, JB Ferrer, M Southall, N Stanwood, G Mach, R Bertz, J Woods, JH Shi, L Marugan, JJ AF Sibley, David R. Free, R. Benjamin Xiao, Jingbo Ferrer, Marc Southall, Noel Stanwood, Gregg Mach, Robert Bertz, Jeremiah Woods, James H. Shi, Lei Marugan, Juan J. TI Identification and Characterization of a Novel and Highly Selective D-2 Dopamine Receptor Antagonist SO NEUROTHERAPEUTICS LA English DT Meeting Abstract C1 [Sibley, David R.; Free, R. Benjamin] NINDS, Mol Neuropharmacol Sect, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Xiao, Jingbo; Ferrer, Marc; Southall, Noel; Marugan, Juan J.] NIH, Natl Ctr Adv Translat Sci, Rockville, MD USA. [Stanwood, Gregg] Florida State Univ, Coll Med, Tallahassee, FL 32306 USA. [Mach, Robert] Univ Penn, Sch Med, Philadelphia, PA 19104 USA. [Bertz, Jeremiah; Woods, James H.] Univ Michigan, Sch Med, Ann Arbor, MI USA. [Shi, Lei] NIDA, Baltimore, MD USA. NR 0 TC 0 Z9 0 U1 2 U2 2 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1933-7213 EI 1878-7479 J9 NEUROTHERAPEUTICS JI Neurotherapeutics PD JUL PY 2016 VL 13 IS 3 BP 657 EP 657 PG 1 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA DS3JP UT WOS:000380679400044 ER PT J AU Nalbantoglu, S Abu-Asab, M Tan, M Zhang, XM Cai, L Amri, H AF Nalbantoglu, Sinem Abu-Asab, Mones Tan, Ming Zhang, Xuemin Cai, Ling Amri, Hakima TI Study of Clinical Survival and Gene Expression in a Sample of Pancreatic Ductal Adenocarcinoma by Parsimony Phylogenetic Analysis SO OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY LA English DT Article ID GROWTH-FACTOR RECEPTOR; PHASE-III TRIAL; NATIONAL-CANCER-INSTITUTE; POOR-PROGNOSIS; K-RAS; KRAS MUTATIONS; GEMCITABINE; ERLOTINIB; PATHWAY; EVOLUTIONARY AB Pancreatic ductal adenocarcinoma (PDAC) is one of the rapidly growing forms of pancreatic cancer with a poor prognosis and less than 5% 5-year survival rate. In this study, we characterized the genetic signatures and signaling pathways related to survival from PDAC, using a parsimony phylogenetic algorithm. We applied the parsimony phylogenetic algorithm to analyze the publicly available whole-genome in silico array analysis of a gene expression data set in 25 early-stage human PDAC specimens. We explain here that the parsimony phylogenetics is an evolutionary analytical method that offers important promise to uncover clonal (driver) and nonclonal (passenger) aberrations in complex diseases. In our analysis, parsimony and statistical analyses did not identify significant correlations between survival times and gene expression values. Thus, the survival rankings did not appear to be significantly different between patients for any specific gene (p > 0.05). Also, we did not find correlation between gene expression data and tumor stage in the present data set. While the present analysis was unable to identify in this relatively small sample of patients a molecular signature associated with pancreatic cancer prognosis, we suggest that future research and analyses with the parsimony phylogenetic algorithm in larger patient samples are worthwhile, given the devastating nature of pancreatic cancer and its early diagnosis, and the need for novel data analytic approaches. The future research practices might want to place greater emphasis on phylogenetics as one of the analytical paradigms, as our findings presented here are on the cusp of this shift, especially in the current era of Big Data and innovation policies advocating for greater data sharing and reanalysis. C1 [Nalbantoglu, Sinem; Amri, Hakima] Georgetown Univ, Sch Med, Dept Biochem Cellular & Mol Biol, Washington, DC 20007 USA. [Abu-Asab, Mones] NEI, Immunol Lab, Immunopathol Sect, Bldg 10, Bethesda, MD 20892 USA. [Tan, Ming; Zhang, Xuemin; Cai, Ling] Georgetown Univ, Dept Biostat Bioinformat & Biomath, Washington, DC USA. RP Amri, H (reprint author), Georgetown Univ, Sch Med, Dept Biochem Cellular & Mol Biol, Washington, DC 20007 USA. EM amrih@georgetown.edu FU Scientific and Technological Research Council of Turkey FX S.N. was funded by a grant from the Scientific and Technological Research Council of Turkey. NR 52 TC 0 Z9 0 U1 5 U2 5 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1536-2310 EI 1557-8100 J9 OMICS JI OMICS PD JUL PY 2016 VL 20 IS 7 BP 442 EP 447 DI 10.1089/omi.2016.0059 PG 6 WC Biotechnology & Applied Microbiology; Genetics & Heredity SC Biotechnology & Applied Microbiology; Genetics & Heredity GA DS2NF UT WOS:000380615000006 PM 27428255 ER PT J AU O'Hayre, M Inoue, A Kufareva, I Wang, Z Mikelis, CM Drummond, RA Avino, S Finkel, K Kalim, KW DiPasquale, G Guo, F Aoki, J Zheng, Y Lionakis, MS Molinolo, AA Gutkind, JS AF O'Hayre, M. Inoue, A. Kufareva, I. Wang, Z. Mikelis, C. M. Drummond, R. A. Avino, S. Finkel, K. Kalim, K. W. DiPasquale, G. Guo, F. Aoki, J. Zheng, Y. Lionakis, M. S. Molinolo, A. A. Gutkind, J. S. TI Inactivating mutations in GNA13 and RHOA in Burkitt's lymphoma and diffuse large B-cell lymphoma: a tumor suppressor function for the G alpha(13)/RhoA axis in B cells SO ONCOGENE LA English DT Article ID PROTEIN-COUPLED RECEPTORS; HETEROTRIMERIC G-PROTEINS; UVEAL MELANOMA; CANCER-CELLS; SOMATIC MUTATIONS; ALPHA-SUBUNIT; P115 RHOGEF; G12 FAMILY; ACTIVATION; METASTASIS AB G proteins and their cognate G protein-coupled receptors (GPCRs) function as critical signal transduction molecules that regulate cell survival, proliferation, motility and differentiation. The aberrant expression and/or function of these molecules have been linked to the growth, progression and metastasis of various cancers. As such, the analysis of mutations in the genes encoding GPCRs, G proteins and their downstream targets provides important clues regarding how these signaling cascades contribute to malignancy. Recent genome-wide sequencing efforts have unveiled the presence of frequent mutations in GNA13, the gene encoding the G protein G alpha(13), in Burkitt's lymphoma and diffuse large B-cell lymphoma (DLBCL). We found that mutations in the downstream target of G alpha(13), RhoA, are also present in Burkitt's lymphoma and DLBCL. By multiple complementary approaches, we now show that that these cancer-specific GNA13 and RHOA mutations are inhibitory in nature, and that the expression of wild-type G alpha(13) in B-cell lymphoma cells with mutant GNA13 has limited impact in vitro but results in a remarkable growth inhibition in vivo. Thus, although G alpha(13) and RhoA activity has previously been linked to cellular transformation and metastatic potential of epithelial cancers, our findings support a tumor suppressive role for G alpha(13) and RhoA in Burkitt's lymphoma and DLBCL. C1 [O'Hayre, M.; Wang, Z.; Avino, S.; Finkel, K.; Molinolo, A. A.; Gutkind, J. S.] Natl Inst Dent & Craniofacial Res, Oral & Pharyngeal Canc Branch, NIH, Bethesda, MD USA. [Inoue, A.; Aoki, J.] Tohoku Univ, Grad Sch Pharmaceut Sci, Sendai, Miyagi, Japan. [Inoue, A.] Japan Sci & Technol Agcy JST, PRESTO, Kawaguchi, Saitama, Japan. [Kufareva, I.] Univ Calif San Diego, Skaggs Sch Pharm & Pharmaceut Sci, La Jolla, CA 92093 USA. [Mikelis, C. M.] Texas Tech Univ, Hlth Sci Ctr, Sch Pharm, Dept Biomed Sci, Amarillo, TX USA. [Drummond, R. A.; Lionakis, M. S.] NIAID, Fungal Pathogenesis Unit, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA. [Avino, S.] Univ Calabria, Dept Pharm Hlth & Nutr Sci, Arcavacata Di Rende, Cs, Italy. [Kalim, K. W.; Guo, F.; Zheng, Y.] Cincinnati Childrens Hosp Med Ctr, Div Expt Hematol & Canc Biol, Cincinnati, OH 45229 USA. [DiPasquale, G.] Natl Inst Dent & Craniofacial Res, Mol Physiol & Therapeut Branch, NIH, Bethesda, MD USA. [Aoki, J.] Japan Agcy Med Res & Dev, Core Res Evolut Sci & Technol AMED CREST, AMED, Chiyoda Ku, Tokyo, Japan. [Gutkind, J. S.] UC San Diego Moores Canc Ctr, Dept Pharmacol, 3855 Hlth Sci Dr,0803, La Jolla, CA 92093 USA. RP Gutkind, JS (reprint author), UC San Diego Moores Canc Ctr, Dept Pharmacol, 3855 Hlth Sci Dr,0803, La Jolla, CA 92093 USA. EM sgutkind@ucsd.edu FU National Institute of Dental and Craniofacial Research intramural program at NIH; PRESTO from JST; AMED-CREST from AMED; Division of Intramural Research, NIAID, NIH; NIH [R01 GM071872, R01 AI118985] FX This study was supported by the National Institute of Dental and Craniofacial Research intramural program at NIH. We thank Maria S Degese for her help with immunohistochemistry. AI was funded by PRESTO from JST. JA was funded by AMED-CREST from AMED. We thank Miho Morikawa for technical assistance with the TGF alpha shedding assay. RAD and MSL are supported by the Division of Intramural Research, NIAID, NIH. IK is supported by NIH grants R01 GM071872 and R01 AI118985. NR 47 TC 1 Z9 1 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0950-9232 EI 1476-5594 J9 ONCOGENE JI Oncogene PD JUL PY 2016 VL 35 IS 29 BP 3771 EP 3780 DI 10.1038/onc.2015.442 PG 10 WC Biochemistry & Molecular Biology; Oncology; Cell Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Oncology; Cell Biology; Genetics & Heredity GA DS4LS UT WOS:000380753200003 PM 26616858 ER PT J AU Ringeisen, H Miller, S Munoz, B Rohloff, H Hedden, SL Colpe, LJ AF Ringeisen, Heather Miller, Shari Munoz, Breda Rohloff, Harley Hedden, Sarra L. Colpe, Lisa J. TI Mental Health Service Use in Adolescence: Findings From the National Survey on Drug Use and Health SO PSYCHIATRIC SERVICES LA English DT Article ID TRANSITION-AGE YOUTH; COMORBIDITY SURVEY-ADOLESCENT; YOUNG-ADULTS; DISORDERS; PREVALENCE; CHILDREN AB Objective: This study examined mental health service use, by service type, of adolescents ages 12-17. Methods: Data were from approximately 113,000 adolescents who participated in the 2008-2012 National Survey on Drug Use and Health, an annual nationally representative survey of the civilian, noninstitutionalized U.S. population. Polynomial contrasts tested for linear and quadratic changes across age in the use of three types of past-year mental health services: school-based services, outpatient therapist or clinic, and overnight hospital stay. Results: Although mental health service use increased from age 12 to age 14 across all service types, it decreased or stabilized from age 15 to 17. School-based services were the most commonly used service and showed the steepest decline in use from age 12 to 17. Conclusions: Although adolescence can be marked by an increasing prevalence of mental disorders, mental health service use declined or leveled off for many service types by age 14 or 15. C1 [Ringeisen, Heather; Miller, Shari; Munoz, Breda; Rohloff, Harley] RTI Int, Res Triangle Pk, NC 27709 USA. [Hedden, Sarra L.] SAMHSA, Rockville, MD USA. [Colpe, Lisa J.] NIMH, Div Serv & Intervent Res, Bethesda, MD 20892 USA. RP Ringeisen, H (reprint author), RTI Int, Res Triangle Pk, NC 27709 USA. EM hringeisen@rti.org FU SAMHSA's Center for Behavioral Health Statistics and Quality; NIMH; [284-2010-0003C]; [0212800.002] FX The National Survey on Drug Use and Health is funded by SAMHSA's Center for Behavioral Health Statistics and Quality. This study was funded under contract 284-2010-0003C, project 0212800.002, which was supported by funding from NIMH. The authors acknowledge the substantive reviews provided by Joe Gfroerer, B.A., Valerie Hoffman, Ph.D., and Jeremy Aldworth, Ph.D., as well as the editorial assistance of Anne Gering, M.A. NR 15 TC 1 Z9 1 U1 3 U2 4 PU AMER PSYCHIATRIC PUBLISHING, INC PI ARLINGTON PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA SN 1075-2730 EI 1557-9700 J9 PSYCHIAT SERV JI Psychiatr. Serv. PD JUL 1 PY 2016 VL 67 IS 7 BP 787 EP 789 DI 10.1176/appi.ps.201400196 PG 3 WC Health Policy & Services; Public, Environmental & Occupational Health; Psychiatry SC Health Care Sciences & Services; Public, Environmental & Occupational Health; Psychiatry GA DT7NA UT WOS:000381672300015 PM 27032654 ER PT J AU Hume, AJ Ames, J Rennick, LJ Duprex, WP Marzi, A Tonkiss, J Muhlberger, E AF Hume, Adam J. Ames, Joshua Rennick, Linda J. Duprex, W. Paul Marzi, Andrea Tonkiss, John Muhlberger, Elke TI Inactivation of RNA Viruses by Gamma Irradiation: A Study on Mitigating Factors SO VIRUSES-BASEL LA English DT Article DE gamma irradiation; virus inactivation; biosafety; BSL-4; vesicular stomatitis virus; measles virus; La Crosse virus; Ebola virus ID VESICULAR STOMATITIS-VIRUS; IONIZING-RADIATION; DNA; MECHANISMS AB Effective inactivation of biosafety level 4 (BSL-4) pathogens is vital in order to study these agents safely. Gamma irradiation is a commonly used method for the inactivation of BSL-4 viruses, which among other advantages, facilitates the study of inactivated yet morphologically intact virions. The reported values for susceptibility of viruses to inactivation by gamma irradiation are sometimes inconsistent, likely due to differences in experimental protocols. We analyzed the effects of common sample attributes on the inactivation of a recombinant vesicular stomatitis virus expressing the Zaire ebolavirus glycoprotein and green fluorescent protein. Using this surrogate virus, we found that sample volume and protein content of the sample modulated viral inactivation by gamma irradiation but that air volume within the sample container and the addition of external disinfectant surrounding the sample did not. These data identify several factors which alter viral susceptibility to inactivation and highlight the usefulness of lower biosafety level surrogate viruses for such studies. Our results underscore the need to validate inactivation protocols of BSL-4 pathogens using "worst-case scenario" procedures to ensure complete sample inactivation. C1 [Hume, Adam J.; Rennick, Linda J.; Duprex, W. Paul; Muhlberger, Elke] Boston Univ, Sch Med, Dept Microbiol, 620 Albany St, Boston, MA 02118 USA. [Hume, Adam J.; Ames, Joshua; Rennick, Linda J.; Duprex, W. Paul; Tonkiss, John; Muhlberger, Elke] Boston Univ, NEIDL, 620 Albany St, Boston, MA 02118 USA. [Marzi, Andrea] NIAID, Virol Lab, Div Intramural Res, NIH, 903 South 4th St, Hamilton, MT 59840 USA. [Tonkiss, John] Tufts Univ, Off Vice Provost Res, Biosafety Off, North Grafton, MA 01536 USA. RP Muhlberger, E (reprint author), Boston Univ, Sch Med, Dept Microbiol, 620 Albany St, Boston, MA 02118 USA.; Muhlberger, E (reprint author), Boston Univ, NEIDL, 620 Albany St, Boston, MA 02118 USA. EM hume@bu.edu; james218@bu.edu; rennick@bu.edu; pduprex@bu.edu; marzia@niaid.nih.gov; John.Tonkiss@tufts.edu; muehlber@bu.edu OI /0000-0001-5974-6921 FU National Institute of Allergy and Infectious Diseases (NIAID) of the National Institutes of Health (NIH) [UC7 AI095321, UC6AI058618]; Division of Intramural Research, NIAID, NIH FX We are grateful to J. H. Connor, Boston University and R. de Swart, Erasmus University for providing material. This work was supported by the National Institute of Allergy and Infectious Diseases (NIAID) of the National Institutes of Health (NIH) under award numbers UC7 AI095321 and UC6AI058618 and by the Division of Intramural Research, NIAID, NIH. NR 34 TC 0 Z9 0 U1 1 U2 1 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 1999-4915 J9 VIRUSES-BASEL JI Viruses-Basel PD JUL PY 2016 VL 8 IS 7 AR 204 DI 10.3390/v8070204 PG 11 WC Virology SC Virology GA DS4QU UT WOS:000380766700026 ER PT J AU Pachulska-Wieczorek, K Le Grice, SFJ Purzycka, KJ AF Pachulska-Wieczorek, Katarzyna Le Grice, Stuart F. J. Purzycka, Katarzyna J. TI Determinants of Genomic RNA Encapsidation in the Saccharomyces cerevisiae Long Terminal Repeat Retrotransposons Ty1 and Ty3 SO VIRUSES-BASEL LA English DT Review DE Ty1 retrotransposon; Ty3 retrotransposon; RNA packaging; RNA trafficking; Gag protein ID VIRUS-LIKE PARTICLES; RETROVIRUS-LIKE ELEMENT; PRIMER-BINDING-SITE; POSITION-SPECIFIC INTEGRATION; HIV-1 NUCLEOCAPSID PROTEIN; ACID CHAPERONE ACTIVITY; REVERSE TRANSCRIPTION; POLYMERASE-III; IN-VIVO; NUCLEAR-LOCALIZATION AB Long-terminal repeat (LTR) retrotransposons are transposable genetic elements that replicate intracellularly, and can be considered progenitors of retroviruses. Ty1 and Ty3 are the most extensively characterized LTR retrotransposons whose RNA genomes provide the template for both protein translation and genomic RNA that is packaged into virus-like particles (VLPs) and reverse transcribed. Genomic RNAs are not divided into separate pools of translated and packaged RNAs, therefore their trafficking and packaging into VLPs requires an equilibrium between competing events. In this review, we focus on Ty1 and Ty3 genomic RNA trafficking and packaging as essential steps of retrotransposon propagation. We summarize the existing knowledge on genomic RNA sequences and structures essential to these processes, the role of Gag proteins in repression of genomic RNA translation, delivery to VLP assembly sites, and encapsidation. C1 [Pachulska-Wieczorek, Katarzyna; Purzycka, Katarzyna J.] Polish Acad Sci, Inst Bioorgan Chem, Lab Struct Chem & Biol Nucle Acids, PL-61704 Poznan, Poland. [Le Grice, Stuart F. J.] Natl Canc Inst, RT Biochem Sect, Basic Res Lab, Ft Detrick, MD 21702 USA. RP Purzycka, KJ (reprint author), Polish Acad Sci, Inst Bioorgan Chem, Lab Struct Chem & Biol Nucle Acids, PL-61704 Poznan, Poland.; Le Grice, SFJ (reprint author), Natl Canc Inst, RT Biochem Sect, Basic Res Lab, Ft Detrick, MD 21702 USA. EM kasiapw@ibch.poznan.pl; legrices@mail.nih.gov; purzycka@ibch.poznan.pl FU Intramural Research Program of the National Cancer Institute, National Institutes of Health, Department of Health and Human Services; Foundation for Polish Science (FNP) [HOMING PLUS/2012-6/12]; Ministry of Science and Higher Education Poland (MNiSW); National Science Center Poland (NCN) [2011/01/D/NZ1/03478] FX We would like to thank David J. Garfinkel for helpful discussions and anonymous reviewers for their help in improving this manuscript. S.F.J.L.G. is supported by the Intramural Research Program of the National Cancer Institute, National Institutes of Health, Department of Health and Human Services. Katarzyna J. Purzycka is supported by Foundation for Polish Science (FNP, HOMING PLUS/2012-6/12) and the Ministry of Science and Higher Education Poland (MNiSW, fellowship for outstanding young scientists). Katarzyna Pachulska-Wieczorek is supported by National Science Center Poland (NCN, 2011/01/D/NZ1/03478). NR 137 TC 0 Z9 0 U1 3 U2 7 PU MDPI AG PI BASEL PA ST ALBAN-ANLAGE 66, CH-4052 BASEL, SWITZERLAND SN 1999-4915 J9 VIRUSES-BASEL JI Viruses-Basel PD JUL PY 2016 VL 8 IS 7 AR 193 DI 10.3390/v8070193 PG 16 WC Virology SC Virology GA DS4QU UT WOS:000380766700015 ER PT J AU Ehlert, A Manthei, G Hesselmann, V Mathias, K Bein, B Pluta, R AF Ehlert, Angelika Manthei, Gerd Hesselmann, Volker Mathias, Klaus Bein, Berthold Pluta, Ryszard TI A Case of Hyperacute Onset of Vasospasm After Aneurysmal Subarachnoid Hemorrhage and Refractory Vasospasm Treated with Intravenous and Intraventricular Nitric Oxide: A Mini Review SO WORLD NEUROSURGERY LA English DT Review DE DCI; hyperacute CVS; Molsidomine; NO donor; outcome; SAH; SNP ID INTRATHECAL SODIUM-NITROPRUSSIDE; DELAYED CEREBRAL VASOSPASM; ISCHEMIC NEUROLOGICAL DEFICITS; EARLY BRAIN-INJURY; PREVENTION; MOLSIDOMINE; REVERSAL; HUMANS; SAFETY; DONOR AB BACKGROUND: A case of hyperacute vasospasm, indicating a poor prognosis after aneurysmal subarachnoid hemorrhage (SAH), is reported, and a review is presented of the literature addressing use of nitric oxide (NO) donors in cases of refractory vasospasm and recurrent delayed cortical ischemias (DCI). CASE DESCRIPTION: A 65-year-old woman was admitted within 1 hour after aneurysmal SAH (Hunt and Hess grade III, Fisher modified by Frontera grade IV). A hyperacute vasospasm had been confirmed arteriographically, the right middle cerebral artery (MCA) aneurysm was immediately coiled and a standard antivasospastic therapy was started. Within 48 hours, the patient developed cerebral vasospasm with DCI. Because the standard therapy failed to control clinical symptoms and to address severe vasospasm, an individualized rescue treatment with NO donors was initiated. A continuous intravenous molsidomine infusion was started and clinical stabilization was achieved for a week (Hunt and Hess grade I; World Federation of Neurological Surgeons grade I; Glasgow Coma Scale score, 15) after which vasospasm and DCI recurred. During a subsequent DCI, we escalated NO donor therapy by adding intraventricular boluses of sodium nitroprusside (SNP). Over the course of the following 22 days, 7 transient DCIs (Glasgow Coma Scale score, 8) were treated with boluses of SNP during continued molsidomine therapy and each time vasospasm and DCI were completely reversed. Despite initial poor prognosis, the clinical outcome was excellent; at 3, 6, and 12 months follow-up the patient's modified National Institutes of Health-Stroke Scale and modified Rankin Scale scores were 0, with no cognitive deficits. CONCLUSIONS: The review of the literature suggested that combined intravenous molsidomine with intraventricular SNP treatment reversed refractory, recurrent vasospasm and DCIs probably by addressing the hemoglobin NO sink effect, NO depletion, and decreased NO availability after aneurysmal SAH. C1 [Ehlert, Angelika; Manthei, Gerd] Asklepios Klin St Georg, Dept Neurosurg, Hamburg, Germany. [Hesselmann, Volker] Asklepios Clin North, Dept Neuroradiol, Hamburg, Germany. [Mathias, Klaus] Asklepios Clin St Georg, Dept Neuroradiol, Hamburg, Germany. [Bein, Berthold] Asklepios Clin St Georg, Dept Anesthesiol, Hamburg, Germany. [Pluta, Ryszard] NINDS, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. RP Ehlert, A (reprint author), Asklepios Klin St Georg, Dept Neurosurg, Hamburg, Germany. EM a.ehlert@asklepios.com NR 50 TC 0 Z9 0 U1 1 U2 1 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1878-8750 EI 1878-8769 J9 WORLD NEUROSURG JI World Neurosurg. PD JUL PY 2016 VL 91 AR UNSP 673.E11 DI 10.1016/j.wneu.2016.04.047 PG 8 WC Clinical Neurology; Surgery SC Neurosciences & Neurology; Surgery GA DS1OH UT WOS:000380365000127 PM 27109628 ER PT J AU Cai, LS Qu, BX Hurtle, BT Dadiboyena, S Diaz-Arrastia, R Pike, VW AF Cai, Lisheng Qu, Baoxi Hurtle, Bryan T. Dadiboyena, Sureshbabu Diaz-Arrastia, Ramon Pike, Victor W. TI Candidate PET Radioligand Development for Neurofibrillary Tangles: Two Distinct Radioligand Binding Sites Identified in Postmortem Alzheimer's Disease Brain SO ACS CHEMICAL NEUROSCIENCE LA English DT Article DE Radioligand; in vitro assay; tangle; tau; Alzheimer's disease; PET ID BETA-AMYLOID PATHOLOGY; SENILE DEMENTIA; FLORBETAPIR-PET; TAU-PATHOLOGY; PLAQUES; TRACER; TISSUE; DIAGNOSIS; SEVERITY; DEPOSITS AB [F-18]THK-523 and [F-18]807 are promising radioligands for imaging neurofibrillary tangles (NFTs) with positron emission tomography (PET) in neurodegenerative diseases, such as Alzheimer's disease (AD) and traumatic brain injury. Although [F-18]THK-523 and [F-18]T807 are considered high-affinity selective radioligands for NFTs, uncertainty has existed as to whether PET radioligands for imaging NFTs bind to the same molecular site because in vitro assays for ligands binding to NFTs have been lacking. We labeled THK-523 and T807 with tritium to serve as reference radioligands for in vitro binding assays with AD brain homogenates for newly synthesized ligands. With these radioligands, we identified two distinct binding sites for small molecules, one site with high affinity for THK-523 and the other with high affinity for T807. Moreover, binding assays with [H-3]PIB confirmed that the two newly identified binding sites are also distinct from the thioflavin-T binding site where all current clinically useful PET radioligands for imaging beta-amyloid plaque bind with high affinity. The two newly identified binding sites are considered to reside on NFTs rather than on beta-amyloid plaques. Furthermore, we applied all three binding assays to a set of newly prepared compounds, based on chain modifications to THK-523. Some compounds with high affinity and selectivity for the THK-523 binding site emerged from this set, including one with amenability to labeling with. fluorine-18, namely, ligand 10b. C1 [Cai, Lisheng; Hurtle, Bryan T.; Dadiboyena, Sureshbabu; Pike, Victor W.] NIMH, Mol Imaging Branch, NIH, 10 Ctr Dr,Bldg 10,Room B3 C346, Bethesda, MD 20892 USA. [Qu, Baoxi; Diaz-Arrastia, Ramon] Uniformed Serv Univ Hlth Sci, Ctr Neurosci & Regenerat Med, Rockville, MD 20851 USA. RP Cai, LS (reprint author), NIMH, Mol Imaging Branch, NIH, 10 Ctr Dr,Bldg 10,Room B3 C346, Bethesda, MD 20892 USA. EM LishengCai@mail.nih.gov FU Intramural Research Program of the NIH; NIMH [ZIA-MH0023793]; Henry Jackson Foundation [306135-10.01-60855] FX This research was supported by the Intramural Research Program of the NIH, specifically the NIMH (ZIA-MH0023793), and by the Henry Jackson Foundation (Grant Award Number 306135-10.01-60855). NR 39 TC 2 Z9 2 U1 5 U2 6 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1948-7193 J9 ACS CHEM NEUROSCI JI ACS Chem. Neurosci. PD JUL PY 2016 VL 7 IS 7 BP 897 EP 911 DI 10.1021/acschemneuro.6b00051 PG 15 WC Biochemistry & Molecular Biology; Chemistry, Medicinal; Neurosciences SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy; Neurosciences & Neurology GA DS0OV UT WOS:000380297500007 PM 27171905 ER PT J AU Casanova, R Varma, S Simpson, B Kim, M An, Y Saldana, S Riveros, C Moscato, P Griswold, M Sonntag, D Wahrheit, J Klavins, K Jonsson, PV Eiriksdottir, G Aspelund, T Launer, LJ Gudnason, V Quigley, CL Thambisetty, M AF Casanova, Ramon Varma, Sudhir Simpson, Brittany Kim, Min An, Yang Saldana, Santiago Riveros, Carlos Moscato, Pablo Griswold, Michael Sonntag, Denise Wahrheit, Judith Klavins, Kristaps Jonsson, Palmi V. Eiriksdottir, Gudny Aspelund, Thor Launer, Lenore J. Gudnason, Vilmundur Quigley, Cristina Legido Thambisetty, Madhav TI Blood metabolite markers of preclinical Alzheimer's disease in two longitudinally followed cohorts of older individuals SO Alzheimers & Dementia LA English DT Article DE Preclinical Alzheimer's disease; Biomarker; Metabolomics; Phospholipids; Machine learning ID ASSOCIATION WORKGROUPS; DIAGNOSTIC GUIDELINES; NATIONAL INSTITUTE; RECOMMENDATIONS; PLASMA; METABOLOMICS; PROGRESSION; BIOMARKERS; REYKJAVIK; DEMENTIA AB Introduction: Recently, quantitative metabolomics identified a panel of 10 plasma lipids that were highly predictive of conversion to Alzheimer's disease (AD) in cognitively normal older individuals (n = 28, area under the curve [AUC] = 0.92, sensitivity/specificity of 90%/90%). Methods: Quantitative targeted metabolomics in serum using an identical method as in the index study. Results: We failed to replicate these findings in a substantially larger study from two independent cohorts-the Baltimore Longitudinal Study of Aging ([BLSA], n = 93, AUC = 0.642, sensitivity/specificity of 51.6%/65.7%) and the Age, Gene/Environment Susceptibility-Reykjavik Study ([AGES-RS], n = 100, AUC = 0.395, sensitivity/specificity of 47.0%/36.0%). In analyses applying machine learning methods to all 187 metabolite concentrations assayed, we find a modest signal in the BLSA with distinct metabolites associated with the preclinical and symptomatic stages of AD, whereas the same methods gave poor classification accuracies in the AGES-RS samples. Discussion: We believe that ours is the largest blood biomarker study of preclinical AD to date. These findings underscore the importance of large-scale independent validation of index findings from biomarker studies with relatively small sample sizes. Published by Elsevier Inc. on behalf of the Alzheimer's Association. C1 [Casanova, Ramon; Saldana, Santiago] Wake Forest Sch Med, Dept Biostat Sci, Winston Salem, NC USA. [Varma, Sudhir] HiThru Analyt LLC, Laurel, MD USA. [Simpson, Brittany; Quigley, Cristina Legido; Thambisetty, Madhav] NIA, Clin & Translat Neurosci Unit, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA. [Simpson, Brittany] Univ Mississippi, Med Ctr, Sch Med, Jackson, MS 39216 USA. [Kim, Min] Kings Coll London, Inst Pharmaceut Sci, London, England. [An, Yang] NIA, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA. [Riveros, Carlos; Moscato, Pablo] Univ Newcastle, Sch Elect Engn & Comp Sci, Callaghan, NSW, Australia. [Griswold, Michael] Univ Mississippi, Med Ctr, Ctr Biostat & Bioinformat, Jackson, MS 39216 USA. [Sonntag, Denise; Wahrheit, Judith; Klavins, Kristaps] BIOCRATES Life Sci AG, Innsbruck, Austria. [Jonsson, Palmi V.; Aspelund, Thor; Gudnason, Vilmundur] Univ Iceland, Fac Med, Reykjavik, Iceland. [Eiriksdottir, Gudny; Aspelund, Thor; Gudnason, Vilmundur] Iceland Heart Assoc, Kopavogur, Iceland. [Launer, Lenore J.] NIA, Lab Epidemiol Demog & Biometry, Bethesda, MD 20892 USA. RP Thambisetty, M (reprint author), NIA, Clin & Translat Neurosci Unit, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA. EM thambisettym@mail.nih.gov FU Intramural Research Program, National Institute on Aging, National Institutes of Health; National Institutes of Health [N01-AG-12100]; National Institute on Aging Intramural Research Program, Hjartavernd (the Icelandic Heart Association); Althingi (the Icelandic Parliament) FX The authors are grateful to the Baltimore Longitudinal Study of Aging and the Age, Gene/Environment Susceptibility Reykjavik Study participants for their dedication to these studies. This work was supported by the Intramural Research Program, National Institute on Aging, National Institutes of Health. AGES-RS was supported by the National Institutes of Health contract N01-AG-12100, the National Institute on Aging Intramural Research Program, Hjartavernd (the Icelandic Heart Association), and the Althingi (the Icelandic Parliament). NR 27 TC 5 Z9 5 U1 9 U2 12 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1552-5260 EI 1552-5279 J9 ALZHEIMERS DEMENT JI Alzheimers. Dement. PD JUL PY 2016 VL 12 IS 7 BP 815 EP 822 DI 10.1016/j.jalz.2015.12.008 PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA DS2EL UT WOS:000380561100008 PM 26806385 ER PT J AU Ohyama, Y Ambale-Venkatesh, B Noda, C Chugh, AR Teixido-Tura, G Kim, JY Donekal, S Yoneyama, K Gjesdal, O Redheuil, A Liu, CY Nakamura, T Wu, CO Hundley, WG Bluemke, DA Lima, JAC AF Ohyama, Yoshiaki Ambale-Venkatesh, Bharath Noda, Chikara Chugh, Atul R. Teixido-Tura, Gisela Kim, Jang-Young Donekal, Sirisha Yoneyama, Kihei Gjesdal, Ola Redheuil, Alban Liu, Chia-Ying Nakamura, Tetsuya Wu, Colin O. Hundley, W. Gregory Bluemke, David A. Lima, Joao A. C. TI Association of Aortic Stiffness With Left Ventricular Remodeling and Reduced Left Ventricular Function Measured by Magnetic Resonance Imaging The Multi-Ethnic Study of Atherosclerosis SO Circulation-Cardiovascular Imaging LA English DT Article DE epidemiology; heart ventricles; magnetic resonance imaging; pulse wave analysis; vascular stiffness ID PULSE-WAVE VELOCITY; PRESERVED EJECTION FRACTION; ALL-CAUSE MORTALITY; ARTERIAL STIFFNESS; INDEPENDENT PREDICTOR; SEX-DIFFERENCES; HEART-FAILURE; HYPERTENSION; STRAIN; REPRODUCIBILITY AB Background-This study sought to assess cross-sectional associations of aortic stiffness assessed by magnetic resonance imaging with left ventricular (LV) remodeling and myocardial deformation in the Multi-Ethnic Study of Atherosclerosis (MESA). Methods and Results-Aortic arch pulse wave velocity (PWV) was measured with phase contrast cine magnetic resonance imaging. LV circumferential strain (Ecc), torsion, and early diastolic strain rate were determined by tagged magnetic resonance imaging. Multivariable linear regression models were used to adjust for demographics and cardiovascular risk factors. Of 2093 participants, multivariable linear regression models demonstrated that higher arch PWV was associated with higher LV mass index (B=0.53 per 1 SD increase for log-transformed PWV, P<0.05) and LV mass to volume ratio (B=0.015, P<0.01), impaired LV ejection fraction (LVEF; B=-0.84; P<0.001), Ecc (B=0.55; P<0.001), torsion (B=-0.11; P<0.001), and early diastolic strain rate (B=-0.003; P<0.05). In sex stratified analysis, higher arch PWV was associated with higher MVR (B=0.02; P<0.05), impaired Ecc (B=0.60; P<0.001), and LVEF (B=-0.45; P<0.05), but with maintained torsion in women. Higher PWV was associated with impaired Ecc (B=0.49; P<0.001) and LVEF (B=-1.21; P<0.001), with lower torsion (B=-0.17; P<0.001) in men. Conclusions-Higher arch PWV is associated with LV remodeling, and reduced LV systolic and diastolic function in a large multiethnic population. Greater aortic arch stiffness is associated with concentric LV remodeling and relatively preserved LVEF with maintained torsion in women, whereas greater aortic arch stiffness is associated with greater LV dysfunction demonstrated as impaired Ecc, torsion, and LVEF, with less concentric LV remodeling in men. C1 [Ohyama, Yoshiaki; Noda, Chikara; Chugh, Atul R.; Teixido-Tura, Gisela; Kim, Jang-Young; Donekal, Sirisha; Yoneyama, Kihei; Gjesdal, Ola; Lima, Joao A. C.] Johns Hopkins Univ, Dept Cardiol, Baltimore, MD USA. [Ambale-Venkatesh, Bharath] Johns Hopkins Univ, Dept Radiol, Baltimore, MD USA. [Teixido-Tura, Gisela] Hosp Gen Univ Vall dHerbron, Dept Cardiol, Barcelona, Spain. [Gjesdal, Ola] Oslo Univ Hosp, Dept Cardiol, Oslo, Norway. [Redheuil, Alban] Grp Hosp Pitie Salpetriere, Imagerie Cardiovasc Cardiovasc Imaging DICVRI, Inst Cardiol, Paris, France. [Liu, Chia-Ying; Bluemke, David A.] Natl Inst Biomed Imaging & Bioengn, NIH, Ctr Clin, Bethesda, MD USA. [Nakamura, Tetsuya] Gunma Univ, Clin Invest & Res Unit, Maebashi, Gumma, Japan. [Wu, Colin O.] NHLBI, Off Biostat Res, Bldg 10, Bethesda, MD 20892 USA. [Hundley, W. Gregory] Wake Forest Sch Med, Dept Epidemiol & Prevent, Winston Salem, NC USA. RP Lima, JAC (reprint author), 600 N Wolf St Blalock 524, Baltimore, MD 21287 USA. EM jlima@jhmi.edu OI Teixido-Tura, Gisela/0000-0003-4714-2420; Bluemke, David/0000-0002-8323-8086 FU National Heart, Lung, and Blood Institute [N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95168] FX This research was supported by contracts N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, and N01-HC-95168 from the National Heart, Lung, and Blood Institute. NR 28 TC 4 Z9 4 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1941-9651 EI 1942-0080 J9 CIRC-CARDIOVASC IMAG JI Circ.-Cardiovasc. Imaging PD JUL PY 2016 VL 9 IS 7 AR e004426 DI 10.1161/CIRCIMAGING.115.004426 PG 12 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA DS2MX UT WOS:000380608900003 ER PT J AU Schmacht, L Traber, J Grieben, U Utz, W Dieringer, MA Kellman, P Blaszczyk, E von Knobelsdorff-Brenkenhoff, F Spuler, S Schulz-Menger, J AF Schmacht, Luisa Traber, Julius Grieben, Ulrike Utz, Wolfgang Dieringer, Matthias A. Kellman, Peter Blaszczyk, Edyta von Knobelsdorff-Brenkenhoff, Florian Spuler, Simone Schulz-Menger, Jeanette TI Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction Detection by Cardiovascular Magnetic Resonance SO Circulation-Cardiovascular Imaging LA English DT Article DE arrythmias, cardiac; cardiomyopathy; fibrosis; magnetic resonance imaging; myotonic dystrophies; triglycerides ID SYSTEMIC-LUPUS-ERYTHEMATOSUS; LONG-TERM OUTCOMES; MUSCULAR-DYSTROPHY; SUBCLINICAL CARDIOMYOPATHY; MYOCARDIAL INFLAMMATION; CONDUCTION SYSTEM; HEART; FIBROSIS; DEATH; DM2 AB Background-Myotonic dystrophy type 2 (DM2) is a genetic disorder characterized by skeletal muscle symptoms, metabolic changes, and cardiac involvement. Histopathologic alterations of the skeletal muscle include fibrosis and fatty infiltration. The aim of this study was to investigate whether subclinical cardiac involvement in DM2 is already detectable in preserved left ventricular function by cardiovascular magnetic resonance. Methods and Results-Twenty-seven patients (mean age, 54 +/- 10 years; 20 females) with a genetically confirmed diagnosis of DM2 were compared with 17 healthy age-and sex-matched controls using a 1.5 T magnetic resonance imaging. For myocardial tissue differentiation, T1 and T2 mapping, fat/water-separated imaging, focal fibrosis imaging (late gadolinium enhancement [LGE]), and H-1 magnetic resonance spectroscopy were performed. Extracellular volume fraction was calculated. Conduction abnormalities were diagnosed based on Groh criteria. LGE located subepicardial basal inferolateral was detectable in 22% of the patients. Extracellular volume was increased in this region and in the adjacent medial inferolateral segment (P=0.03 compared with healthy controls). In 21% of patients with DM2, fat deposits were detectable (all women). The control group showed no abnormalities. Myocardial triglycerides were not different in LGE-positive and LGE-negative subjects (P=0.47). Six patients had indicators for conduction disease (60% of LGE-positive patients and 12.5% of LGE-negative patients). Conclusions-In DM2, subclinical myocardial injury was already detectable in preserved left ventricular ejection fraction. Extracellular volume was also increased in regions with no focal fibrosis. Myocardial fibrosis was related to conduction abnormalities. C1 [Schmacht, Luisa; Traber, Julius; Utz, Wolfgang; Dieringer, Matthias A.; Blaszczyk, Edyta; von Knobelsdorff-Brenkenhoff, Florian; Schulz-Menger, Jeanette] Expt & Clin Res Ctr, Working Grp Cardiovasc Magnet Resonance, Berlin, Germany. [Schmacht, Luisa; Traber, Julius; Utz, Wolfgang; Dieringer, Matthias A.; Blaszczyk, Edyta; von Knobelsdorff-Brenkenhoff, Florian; Schulz-Menger, Jeanette] HELIOS Klinikum Berlin Buch, Dept Cardiol & Nephrol, Berlin, Germany. [Schmacht, Luisa; von Knobelsdorff-Brenkenhoff, Florian; Schulz-Menger, Jeanette] DZHK German Ctr Cardiovasc Res, Partner Site Berlin, Berlin, Germany. [Grieben, Ulrike; Spuler, Simone] Expt & Clin Res Ctr, Muscle Res Unit, Berlin, Germany. [Kellman, Peter] NHLBI, Cardiac Energet Lab, NIH, Bethesda, MD 20892 USA. RP Schulz-Menger, J (reprint author), Lindenberger Weg 80, D-13125 Berlin, Germany. EM Jeanette.schulz-menger@charite.de FU Charite FX Dr Schulz-Menger, medical faculty of the Humboldt University Berlin, was financially supported by research funds of the Charite. NR 45 TC 1 Z9 1 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1941-9651 EI 1942-0080 J9 CIRC-CARDIOVASC IMAG JI Circ.-Cardiovasc. Imaging PD JUL PY 2016 VL 9 IS 7 AR e004615 DI 10.1161/CIRCIMAGING.115.004615 PG 10 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA DS2MX UT WOS:000380608900006 ER PT J AU Meisler, MH Helman, G Hammer, MF Fureman, BE Gaillard, WD Goldin, AL Hirose, S Ishii, A Kroner, BL Lossin, C Mefford, HC Parent, JM Patel, M Schreiber, J Stewart, R Whittemore, V Wilcox, K Wagnon, JL Pearl, PL Vanderver, A Scheffer, IE AF Meisler, Miriam H. Helman, Guy Hammer, Michael F. Fureman, Brandy E. Gaillard, William D. Goldin, Alan L. Hirose, Shinichi Ishii, Atsushi Kroner, Barbara L. Lossin, Christoph Mefford, Heather C. Parent, Jack M. Patel, Manoj Schreiber, John Stewart, Randall Whittemore, Vicky Wilcox, Karen Wagnon, Jacy L. Pearl, Phillip L. Vanderver, Adeline Scheffer, Ingrid E. TI SCN8A encephalopathy: Research progress and prospects SO EPILEPSIA LA English DT Article DE Encephalopathy; Bioregistry; Na(v)1; 6; Sodium channel; Mutation; Drug screening; SCN8A ID SODIUM-CHANNEL SCN8A; DE-NOVO MUTATIONS; NEONATAL-INFANTILE SEIZURES; CEREBELLAR GRANULE CELLS; PLURIPOTENT STEM-CELLS; AXON INITIAL SEGMENTS; EPILEPTIC ENCEPHALOPATHY; INTELLECTUAL DISABILITY; FUNCTIONAL SPECIALIZATION; PHENOTYPIC SPECTRUM AB On April 21, 2015, the first SCN8A Encephalopathy Research Group convened in Washington, DC, to assess current research into clinical and pathogenic features of the disorder and prepare an agenda for future research collaborations. The group comprised clinical and basic scientists and representatives of patient advocacy groups. SCN8A encephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel gene SCN8A, which encodes the neuronal sodium channel Na(v)1.6. Since the initial description in 2012, approximately 140 affected individuals have been reported in publications or by SCN8A family groups. As a result, an understanding of the severe impact of SCN8A mutations is beginning to emerge. Defining a genetic epilepsy syndrome goes beyond identification of molecular etiology. Topics discussed at this meeting included (1) comparison between mutations of SCN8A and the SCN1A mutations in Dravet syndrome, (2) biophysical properties of the Na(v)1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of SCN8A encephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum of SCN8A encephalopathy, and (7) efforts to develop a bioregistry. A panel discussion of gaps in bioregistry, biobanking, and clinical outcomes data was followed by a planning session for improved integration of clinical and basic science research. Although SCN8A encephalopathy was identified only recently, there has been rapid progress in functional analysis and phenotypic classification. The focus is now shifting from identification of the underlying molecular cause to the development of strategies for drug screening and prioritized patient care. C1 [Meisler, Miriam H.; Wagnon, Jacy L.] Univ Michigan, Dept Human Genet, 4909 Buhl, Ann Arbor, MI 48109 USA. [Helman, Guy; Gaillard, William D.; Schreiber, John; Vanderver, Adeline] Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA. [Helman, Guy; Vanderver, Adeline] Childrens Natl Hlth Syst, Med Genet Res Ctr, Washington, DC USA. [Hammer, Michael F.] Univ Arizona, ARL Div Biotechnol, Tucson, AZ USA. [Fureman, Brandy E.; Stewart, Randall; Whittemore, Vicky] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Gaillard, William D.] Childrens Natl Hlth Syst, Ctr Neurosci Res, Washington, DC USA. [Goldin, Alan L.] Univ Calif Irvine, Microbiol Mol Genet & Anat Neurobiol, Irvine, CA USA. [Hirose, Shinichi; Ishii, Atsushi] Fukuoka Univ, Dept Pediat, Sch Med, Fukuoka, Japan. [Kroner, Barbara L.] RTI Int, Biostat & Epidemiol, Rockville, MD USA. [Lossin, Christoph] Univ Calif Davis, Sch Med, Dept Neurol, Sacramento, CA 95817 USA. [Mefford, Heather C.] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA. [Parent, Jack M.] Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA. [Parent, Jack M.] VA Ann Arbor Healthcare Syst, Ann Arbor, MI USA. [Patel, Manoj] Univ Virginia Hlth Syst, Dept Anesthesiol, Charlottesville, VA USA. [Wilcox, Karen] Univ Utah, Dept Pharmacol & Toxicol, Anticonvulsant Drug Dev Program, 112 Skaggs Hall, Salt Lake City, UT 84112 USA. [Pearl, Phillip L.] Harvard Med Sch, Dept Neurol, Boston Childrens Hosp, Boston, MA USA. [Vanderver, Adeline] George Washington Univ, Dept Integrated Syst Biol & Pediat, Washington, DC USA. [Scheffer, Ingrid E.] Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia. [Scheffer, Ingrid E.] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia. [Scheffer, Ingrid E.] Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia. [Scheffer, Ingrid E.] Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia. RP Meisler, MH (reprint author), Univ Michigan, Dept Human Genet, 4909 Buhl, Ann Arbor, MI 48109 USA.; Vanderver, A (reprint author), Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA.; Vanderver, A (reprint author), Childrens Natl Hlth Syst, Med Genet Res Ctr, Washington, DC USA.; Vanderver, A (reprint author), George Washington Univ, Dept Integrated Syst Biol & Pediat, Washington, DC USA.; Scheffer, IE (reprint author), Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia.; Scheffer, IE (reprint author), Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.; Scheffer, IE (reprint author), Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia.; Scheffer, IE (reprint author), Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia.; Scheffer, IE (reprint author), Univ Melbourne, Dept Med & Paediat, 245 Burgundy St, Heidelberg, Vic 3084, Australia.; Vanderver, A (reprint author), Childrens Natl Med Ctr, Med Genet Res Ctr, 111 Michigan Ave NW, Washington, DC 20010 USA. EM meislerm@umich.edu; avanderv@childrensnational.org; scheffer@unimelb.edu.au RI Helman, Guy/C-7935-2017; OI Helman, Guy/0000-0002-4784-7423; Lossin, Christoph/0000-0001-8101-2924 FU National Institutes of Health [R01 NS34509, R01 NS075157, R01 NS0090319, U01 DP003255-01, PCORI PPRN-1306-04577] FX We thank the patients, families, and caregivers affected by SCN8A encephalopathy. The first SCN8A Encephalopathy Meeting was hosted and sponsored by the Wishes for Elliott: Advancing SCN8A Research family group. Support from the National Institutes of Health is acknowledged by MHM (R01 NS34509), MKP (R01 NS075157), AG (R01 NS0090319), and BLK (U01 DP003255-01, PCORI PPRN-1306-04577). NR 70 TC 10 Z9 10 U1 1 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0013-9580 EI 1528-1167 J9 EPILEPSIA JI Epilepsia PD JUL PY 2016 VL 57 IS 7 BP 1027 EP 1035 DI 10.1111/epi.13422 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA DR8ML UT WOS:000380151900008 PM 27270488 ER PT J AU Lhatoo, SD Nei, M Raghavan, M Sperling, M Zonjy, B Lacuey, N Devinsky, O AF Lhatoo, Samden D. Nei, Maromi Raghavan, Manoj Sperling, Michael Zonjy, Bilal Lacuey, Nuria Devinsky, Orrin TI Nonseizure SUDEP: Sudden unexpected death in epilepsy without preceding epileptic seizures SO EPILEPSIA LA English DT Article DE Sudden unexpected death in epilepsy (SUDEP); Nonseizure SUDEP; Near-SUDEP; EEG suppression ID UNEXPLAINED DEATH; RISK-FACTORS; CIRCUMSTANCES; MORTALITY; PROGRAM; SERIES; EEG AB ObjectiveTo describe the phenomenology of monitored sudden unexpected death in epilepsy (SUDEP) occurring in the interictal period where death occurs without a seizure preceding it. MethodsWe report a case series of monitored definite and probable SUDEP where no electroclinical evidence of underlying seizures was found preceding death. ResultsThree patients (two definite and one probable) had SUDEP. They had a typical high SUDEP risk profile with longstanding intractable epilepsy and frequent generalized tonic-clonic seizures (GTCS). All patients had varying patterns of respiratory and bradyarrhythmic cardiac dysfunction with profound electroencephalography (EEG) suppression. In two patients, patterns of cardiorespiratory failure were similar to those seen in some patients in the Mortality in Epilepsy Monitoring Units Study (MORTEMUS). SignificanceSUDEP almost always occur postictally, after GTCS and less commonly after a partial seizure. Monitored SUDEP or near-SUDEP cases without a seizure have not yet been reported in literature. When nonmonitored SUDEP occurs in an ambulatory setting without an overt seizure, the absence of EEG information prevents the exclusion of a subtle seizure. These cases confirm the existence of nonseizure SUDEP; such deaths may not be prevented by seizure detection-based devices. SUDEP risk in patients with epilepsy may constitute a spectrum of susceptibility wherein some are relatively immune, death occurs in others with frequent GTCS with one episode of seizure ultimately proving fatal, while in others still, death may occur even in the absence of a seizure. We emphasize the heterogeneity of SUDEP phenomena. C1 [Lhatoo, Samden D.; Zonjy, Bilal; Lacuey, Nuria] UH Case Med Ctr, Epilepsy Ctr, 11100 Euclid Ave, Cleveland, OH 44106 USA. [Lhatoo, Samden D.; Nei, Maromi; Zonjy, Bilal; Lacuey, Nuria; Devinsky, Orrin] NINDS, Ctr SUDEP Res, CSR, Ctr Walls, Philadelphia, PA USA. [Nei, Maromi; Sperling, Michael] Thomas Jefferson Univ, Jefferson Comprehens Epilepsy Ctr, Philadelphia, PA 19107 USA. [Raghavan, Manoj] Med Coll Wisconsin, Adult Comprehens Epilepsy Ctr, Milwaukee, WI 53226 USA. [Devinsky, Orrin] NYU, Langone Comprehens Epilepsy Ctr, Langone Med Ctr, New York, NY USA. RP Lhatoo, SD (reprint author), UH Case Med Ctr, Epilepsy Ctr, 11100 Euclid Ave, Cleveland, OH 44106 USA. EM samden.lhatoo@uhhospitals.org OI Devinsky, Orrin/0000-0003-0044-4632; Nei, Maromi/0000-0001-7197-3094 FU National Institutes of Health (NIH) [U01-NS090405, U01 NS090407, U01 NS090415, R01 EB 018308, R01 MH 094480]; Centers for Disease Control and Prevention (CDC) [U48 DP 005008-01S4] FX This work is supported by National Institutes of Health (NIH) grants U01-NS090405, U01-NS090407, U01-NS090405 (SDL, MN, OD, BZ, and NL), U01 NS090407, U01 NS090415, R01 EB 018308, and R01 MH 094480, and Centers for Disease Control and Prevention (CDC) U48 DP 005008-01S4 (OD). NR 26 TC 4 Z9 4 U1 5 U2 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0013-9580 EI 1528-1167 J9 EPILEPSIA JI Epilepsia PD JUL PY 2016 VL 57 IS 7 BP 1161 EP 1168 DI 10.1111/epi.13419 PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA DR8ML UT WOS:000380151900022 PM 27221596 ER PT J AU Barnhill, A Joffe, S Miller, FG AF Barnhill, Anne Joffe, Steven Miller, Franklin G. TI The ETHICS of Infection Challenges in PRIMATES SO HASTINGS CENTER REPORT LA English DT Article ID NONHUMAN-PRIMATES; HUMANS AB In the midst of the recent Ebola outbreak, scientific developments involving infection challenge experiments on nonhuman primates (NHPs) sparked hope that successful treatments and vaccines may soon become available. Yet these studies pose a stark ethical quandary. On the one hand, they represent an important step in developing novel therapies and vaccines for Ebola and the Marburg virus, with the potential to save thousands of human lives and to protect whole communities from devastation; on the other hand, they intentionally expose sophisticated animals to severe suffering and a high risk of death. Other studies that infect NHPs with a lethal disease in order to test interventions that may prove beneficial for humans pose the same ethical difficulty. Some advocates have argued that all research on primates should be phased out, and ethicists have questioned whether a moral justification of primate research is possible. A 2010 European Union directive banned virtually all research on great apes, and 2013 guidelines from the National Institutes of Health (NIH), based upon recommendations in an influential 2011 Institute of Medicine (IOM) report, eliminated most biomedical research with chimpanzees in the United States. But studies involving other NHPs face no comparable restrictions.Should research on NHPs other than great apes be subject to tighter restrictions than it currently is? In this article, we explore this general question in the context of one particular type of biomedical research: infection challenge studies. We advocate a presumptive prohibition on infection challenge experiments in NHPs, but we also argue that exceptions to this prohibition are permissible, subject to strict substantive and procedural safeguards, when necessary to avert substantial loss of human life or severe morbidity for a substantial number of people. C1 [Barnhill, Anne] Univ Penn, Perelman Sch Med, Med Eth & Hlth Policy, Philadelphia, PA 19104 USA. [Joffe, Steven] Univ Penn, Perelman Sch Med, Dept Med Eth & Hlth Policy, Philadelphia, PA 19104 USA. [Miller, Franklin G.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Miller, Franklin G.] Weill Cornell Med Coll, New York, NY USA. [Miller, Franklin G.] NIH, Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. RP Barnhill, A (reprint author), Univ Penn, Perelman Sch Med, Med Eth & Hlth Policy, Philadelphia, PA 19104 USA. NR 26 TC 2 Z9 2 U1 13 U2 17 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0093-0334 EI 1552-146X J9 HASTINGS CENT REP JI Hastings Cent. Rep. PD JUL-AUG PY 2016 VL 46 IS 4 BP 20 EP 26 DI 10.1002/hast.580 PG 7 WC Ethics; Health Care Sciences & Services; Medical Ethics; Social Sciences, Biomedical SC Social Sciences - Other Topics; Health Care Sciences & Services; Medical Ethics; Biomedical Social Sciences GA DS0CM UT WOS:000380262900008 PM 27417865 ER PT J AU DeGrazia, D AF DeGrazia, David TI Nonhuman Primates, Human Need, and Ethical Constraints SO HASTINGS CENTER REPORT LA English DT Article AB The Ethics of Infection Challenges in Primates, by Anne Barnhill, Steven Joffe, and Franklin Miller, is an exceptionally timely contribution to the literature on animal research ethics. Animal research has long been both a source of high hopes and a cause for moral concern. When it comes to infection challenge studies with nonhuman primates, neither the hopeto save thousands of human lives from such diseases as Ebola and Marburgnor the concernthe conviction that primates deserve especially strong protectionscould be much higher. Coming just a few years after the National Institutes of Health adopted the Institute of Medicine's recommendations regarding chimpanzees, Barnhill and colleagues attempt to nudge the clarification and specificationone might say the evolutionof NHP research ethics and regulation. They assert that NHP challenge studies are not justified by marginal gains in human safety or by efficacy gains that are unlikely to translate directly into saving human lives or preventing morbidity. How, in turn, is their standardwhich, although stringent, does permit causing NHPs to suffer and die for human benefitto be justified? C1 [DeGrazia, David] George Washington Univ, Philosophy, Washington, DC 20052 USA. [DeGrazia, David] NIH, Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. RP DeGrazia, D (reprint author), George Washington Univ, Philosophy, Washington, DC 20052 USA.; DeGrazia, D (reprint author), NIH, Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. FU National Institutes of Health Clinical Center FX This work was supported in part by intramural funds from the National Institutes of Health Clinical Center. The views expressed are my own. They do not represent the position or policy of the NIH or any other part of the federal government. NR 8 TC 0 Z9 0 U1 3 U2 9 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0093-0334 EI 1552-146X J9 HASTINGS CENT REP JI Hastings Cent. Rep. PD JUL-AUG PY 2016 VL 46 IS 4 BP 27 EP 28 DI 10.1002/hast.601 PG 2 WC Ethics; Health Care Sciences & Services; Medical Ethics; Social Sciences, Biomedical SC Social Sciences - Other Topics; Health Care Sciences & Services; Medical Ethics; Biomedical Social Sciences GA DS0CM UT WOS:000380262900009 PM 27417866 ER PT J AU Pomerantsev, AP Rappole, C Chang, Z Chahoud, M Leppla, SH AF Pomerantsev, Andrei P. Rappole, Catherine Chang, Zanetta Chahoud, Margaret Leppla, Stephen H. TI The IntXO-PSL Recombination System Is a Key Component of the Second Maintenance System for Bacillus anthracis Plasmid pXO1 SO JOURNAL OF BACTERIOLOGY LA English DT Article ID SITE-SPECIFIC RECOMBINATION; TUBULIN-LIKE PROTEIN; GENOME SEQUENCE; TUBZ; CEREUS; THURINGIENSIS; STABILITY; COMPLEXES; BACTERIA; FLP/FRT AB We previously identified three noncontiguous regions on Bacillus anthracis plasmid pXO1 that comprise a system for accurate plasmid partitioning and maintenance. However, deletion of these regions did not decrease retention of certain shortened pXO1 plasmids during vegetative growth. Using two genetic tools developed for DNA manipulation in B. anthracis (the Cre-loxP and Flp-FRT systems), we found two other noncontiguous pXO1 regions that together are sufficient for plasmid stability. This second pXO1 maintenance system includes the tubZ and tubR genes, characteristic of a type III partitioning system, and the IntXO recombinase gene (GBAA_RS29165), encoding a tyrosine recombinase, along with its adjacent 37-bp perfect stem-loop (PSL) target. Insertion of either the tubZ and tubR genes or the IntXO-PSL system into an unstable mini-pXO1 plasmid did not restore plasmid stability. The need for the two components of the second pXO1 maintenance system follows from the sequential roles of IntXO-PSL in generating monomeric circular daughter pXO1 molecules (thereby presumably preventing dimer catastrophe) and of TubZ/TubR in partitioning the monomers during cell division. We show that the IntXO recombinase deletes DNA regions located between two PSL sites in a manner similar to the actions of the Cre-loxP and Flp-FRT systems. IMPORTANCE Tyrosine recombinases catalyze cutting and joining reactions between short specific DNA sequences. Three types of reactions occur: integration and excision of DNA segments, inversion of DNA segments, and separation of monomeric forms from replicating circular DNA molecules. Here we show that the newly discovered site-specific IntXO-PSL recombinase system that contributes to the maintenance of the B. anthracis plasmid pXO1 can be used for genome engineering in a manner similar to that of the Cre-loxP or Flp-FRT system. C1 [Pomerantsev, Andrei P.; Rappole, Catherine; Chang, Zanetta; Chahoud, Margaret; Leppla, Stephen H.] NIAID, Microbial Pathogenesis Sect, Parasit Dis Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Leppla, SH (reprint author), NIAID, Microbial Pathogenesis Sect, Parasit Dis Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM sleppla@niaid.nih.gov FU National Institutes of Health Intramural Program [1 ZIA AI001030-04] FX This work, including the efforts of Stephen H. Leppla, was funded by National Institutes of Health Intramural Program (1 ZIA AI001030-04). NR 36 TC 0 Z9 0 U1 3 U2 5 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 0021-9193 EI 1098-5530 J9 J BACTERIOL JI J. Bacteriol. PD JUL PY 2016 VL 198 IS 14 BP 1939 EP 1951 DI 10.1128/JB.01004-15 PG 13 WC Microbiology SC Microbiology GA DS1SD UT WOS:000380377600006 PM 27137503 ER PT J AU Simpson, BN Kim, M Chuang, YF Beason-Held, L Kitner-Triolo, M Kraut, M Lirette, ST Windham, BG Griswold, ME Legido-Quigley, C Thambisetty, M AF Simpson, Brittany N. Kim, Min Chuang, Yi-Fang Beason-Held, Lori Kitner-Triolo, Melissa Kraut, Michael Lirette, Seth T. Windham, B. Gwen Griswold, Michael E. Legido-Quigley, Cristina Thambisetty, Madhav TI Blood metabolite markers of cognitive performance and brain function in aging SO JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM LA English DT Article DE Alzheimer's disease's; biomarker; positron emission tomography imaging; phosphatidylcholine; verbal memory ID ALZHEIMERS-DISEASE; ACTIVATION; MEMORY; IMPAIRMENT; TASKS; FMRI AB We recently showed that Alzheimer's disease patients have lower plasma concentrations of the phosphatidylcholines (PC16:0/20:5; PC16:0/22:6; and PC18:0/22:6) relative to healthy controls. We now extend these findings by examining associations between plasma concentrations of these PCs with cognition and brain function (measured by regional resting state cerebral blood flow; rCBF) in non-demented older individuals. Within the Baltimore Longitudinal Study of Aging neuroimaging substudy, participants underwent cognitive assessments and brain O-15-water positron emission tomography. Plasma phosphatidylcholines concentrations (PC16:0/20:5, PC16:0/22:6, and PC18:0/22:6), cognition (California Verbal Learning Test (CVLT), Trail Making Test A&B, the Mini-Mental State Examination, Benton Visual Retention, Card Rotation, and FluenciesCategory and Letter), and rCBF were assessed. Lower plasma phosphatidylcholine concentrations were associated with lower baseline memory performance (CVLT long delay recall taskPC16:0/20:5: (-2.17)-1.39(-0.60)p=0.001 ( with 95% confidence interval subscripts)) and lower rCBF in several brain regions including those associated with memory performance and higher order cognitive processes. Our findings suggest that lower plasma concentrations of PC16:0/20:5, PC16:0/22:6, and PC18:0/22:6 are associated with poorer memory performance as well as widespread decreases in brain function during aging. Dysregulation of peripheral phosphatidylcholine metabolism may therefore be a common feature of both Alzheimer's disease and age-associated differences in cognition. C1 [Simpson, Brittany N.; Chuang, Yi-Fang; Thambisetty, Madhav] NIA, Clin & Translat Neurosci Unit, Lab Behav Neurosci, NIH, 251 Bayview Blvd, Baltimore, MD 21224 USA. [Simpson, Brittany N.] Univ Mississippi, Med Ctr, Sch Med, Jackson, MS 39216 USA. [Kim, Min; Legido-Quigley, Cristina] Kings Coll London, Inst Pharmaceut Sci, London, England. [Beason-Held, Lori] NIA, Brain Aging & Behav Sect, NIH, Baltimore, MD 21224 USA. [Kitner-Triolo, Melissa] NIA, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA. [Kraut, Michael] Johns Hopkins Med Inst, Dept Radiol, Baltimore, MD 21205 USA. [Lirette, Seth T.] Univ Mississippi, Med Ctr, Ctr Biostat & Bioinformat, Jackson, MS 39216 USA. [Windham, B. Gwen; Griswold, Michael E.] Univ Mississippi, Med Ctr, Dept Med, Div Geriatr, Jackson, MS 39216 USA. RP Thambisetty, M (reprint author), NIA, Clin & Translat Neurosci Unit, Lab Behav Neurosci, NIH, 251 Bayview Blvd, Baltimore, MD 21224 USA. EM thambisettym@mail.nih.gov FU Intramural Research Program of the NIH, National Institute on Aging; Research and Development Contract [N01-AG-3-2124] FX lThe author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This research was supported by the Intramural Research Program of the NIH, National Institute on Aging, and by Research and Development Contract N01-AG-3-2124. NR 48 TC 3 Z9 3 U1 0 U2 2 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0271-678X EI 1559-7016 J9 J CEREBR BLOOD F MET JI J. Cereb. Blood Flow Metab. PD JUL PY 2016 VL 36 IS 7 BP 1212 EP 1223 DI 10.1177/0271678X15611678 PG 12 WC Endocrinology & Metabolism; Hematology; Neurosciences SC Endocrinology & Metabolism; Hematology; Neurosciences & Neurology GA DR8IH UT WOS:000380141100006 PM 26661209 ER PT J AU Dolui, S Wang, Z Wang, DJJ Mattay, R Finkel, M Elliott, M Desiderio, L Inglis, B Mueller, B Stafford, RB Launer, LJ Jacobs, DR Bryan, RN Detre, JA AF Dolui, Sudipto Wang, Ze Wang, Danny J. J. Mattay, Raghav Finkel, Mack Elliott, Mark Desiderio, Lisa Inglis, Ben Mueller, Bryon Stafford, Randall B. Launer, Lenore J. Jacobs, David R., Jr. Bryan, R. Nick Detre, John A. TI Comparison of non-invasive MRI measurements of cerebral blood flow in a large multisite cohort SO JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM LA English DT Article DE Cerebral blood flow; labeling efficiency; phase contrast magnetic resonance imaging; pseudo-continuous arterial spin labeling; semi-automated vessel segmentation ID LABELED PERFUSION MRI; ARTERIAL WATER; TRANSIT-TIME; 3.0 T; BRAIN; VOLUME; AUTOREGULATION; RELAXATION; INVERSION; REPRODUCIBILITY AB Arterial spin labeling and phase contrast magnetic resonance imaging provide independent non-invasive methods for measuring cerebral blood flow. We compared global cerebral blood flow measurements obtained using pseudo-continuous arterial spin labeling and phase contrast in 436 middle-aged subjects acquired at two sites in the NHLBI CARDIA multisite study. Cerebral blood flow measured by phase contrast (CBFPC: 55.76 +/- 12.05ml/100g/min) was systematically higher (p<0.001) and more variable than cerebral blood flow measured by pseudo-continuous arterial spin labeling (CBFPCASL: 47.70 +/- 9.75). The correlation between global cerebral blood flow values obtained from the two modalities was 0.59 (p<0.001), explaining less than half of the observed variance in cerebral blood flow estimates. Well-established correlations of global cerebral blood flow with age and sex were similarly observed in both CBFPCASL and CBFPC. CBFPC also demonstrated statistically significant site differences, whereas no such differences were observed in CBFPCASL. No consistent velocity-dependent effects on pseudo-continuous arterial spin labeling were observed, suggesting that pseudo-continuous labeling efficiency does not vary substantially across typical adult carotid and vertebral velocities, as has previously been suggested. Conclusions: Although CBFPCASL and CBFPC values show substantial similarity across the entire cohort, these data do not support calibration of CBFPCASL using CBFPC in individual subjects. The wide-ranging cerebral blood flow values obtained by both methods suggest that cerebral blood flow values are highly variable in the general population. C1 [Dolui, Sudipto; Elliott, Mark; Desiderio, Lisa; Bryan, R. Nick; Detre, John A.] Univ Penn, Dept Radiol, 3W Gates Pavil,3400 Spruce St, Philadelphia, PA 19104 USA. [Dolui, Sudipto; Detre, John A.] Univ Penn, Dept Neurol, 3W Gates Pavil,3400 Spruce St, Philadelphia, PA 19104 USA. [Dolui, Sudipto; Detre, John A.] Univ Penn, Ctr Funct Neuroimaging, Philadelphia, PA 19104 USA. [Wang, Ze] Hangzhou Normal Univ, Ctr Cognit & Brain Disorders, Hangzhou, Zhejiang, Peoples R China. [Wang, Ze] Hangzhou Normal Univ, Affiliated Hosp, Hangzhou, Zhejiang, Peoples R China. [Wang, Ze] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA. [Wang, Ze] Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA. [Wang, Danny J. J.] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA. [Mattay, Raghav] Univ Penn, Raymond & Ruth Perelman Sch Med, Philadelphia, PA 19104 USA. [Finkel, Mack] Univ Penn, Sch Arts & Sci, Philadelphia, PA 19104 USA. [Inglis, Ben] Univ Calif Berkeley, Henry H Wheeler Jr Brain Imaging Ctr, Berkeley, CA 94720 USA. [Mueller, Bryon] Univ Minnesota, Dept Psychiat, Minneapolis, MN 55455 USA. [Stafford, Randall B.] Univ Calgary, Dept Clin Neurosci, Calgary, AB, Canada. [Launer, Lenore J.] NIA, Lab Epidemiol & Populat Sci, Bethesda, MD 20892 USA. [Jacobs, David R., Jr.] Univ Minnesota, Div Epidemiol & Community Hlth, Minneapolis, MN USA. RP Detre, JA (reprint author), Univ Penn, Dept Radiol, 3W Gates Pavil,3400 Spruce St, Philadelphia, PA 19104 USA.; Detre, JA (reprint author), Univ Penn, Dept Neurol, 3W Gates Pavil,3400 Spruce St, Philadelphia, PA 19104 USA. EM detre@mail.med.upenn.edu FU National Heart, Lung, and Blood Institute and the Intramural Research Program of the National Institute on Aging [HHSN268201300025C, HHSN268201300026C, HHSN268 201300027C, HHSN268201300028C, HHSN268201300029C, HHSN268200900041C]; National Institutes of Health [EB015893, MH080729] FX The Coronary Artery Risk Development in Young Adults Study (CARDIA) is supported by contracts HHSN268201300025C, HHSN268201300026C, HHSN268 201300027C, HHSN268201300028C, HHSN268201300029C, and HHSN268200900041C from the National Heart, Lung, and Blood Institute and the Intramural Research Program of the National Institute on Aging. This study was further supported by grants from the National Institutes of Health, namely EB015893, MH080729. NR 43 TC 2 Z9 2 U1 2 U2 3 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0271-678X EI 1559-7016 J9 J CEREBR BLOOD F MET JI J. Cereb. Blood Flow Metab. PD JUL PY 2016 VL 36 IS 7 BP 1244 EP 1256 DI 10.1177/0271678X16646124 PG 13 WC Endocrinology & Metabolism; Hematology; Neurosciences SC Endocrinology & Metabolism; Hematology; Neurosciences & Neurology GA DR8IH UT WOS:000380141100009 PM 27142868 ER PT J AU Franchin, M Rosalen, PL da Cunha, MG Silva, RL Colon, DF Bassi, GS de Alencar, SM Ikegaki, M Alves, JC Cunha, FQ Beutler, JA Cunha, TM AF Franchin, Marcelo Rosalen, Pedro Luiz da Cunha, Marcos Guilherme Silva, Rangel Leal Colon, David F. Bassi, Gabriel Shimizu de Alencar, Severino Matias Ikegaki, Masaharu Alves-Filho, Jose C. Cunha, Fernando Q. Beutler, John A. Cunha, Thiago Mattar TI Cinnamoyloxy-mammeisin Isolated from Geopropolis Attenuates Inflammatory Process by Inhibiting Cytokine Production: Involvement of MAPK, AP-1, and NF-kappa B SO JOURNAL OF NATURAL PRODUCTS LA English DT Article ID ACTIVATED PROTEIN-KINASES; LPS-INDUCED INFLAMMATION; BRAZILIAN PROPOLIS; CHEMICAL-COMPOSITION; BOTANICAL ORIGIN; TNF-ALPHA; MACROPHAGES; EXPRESSION; PATHWAY; PHOSPHORYLATION AB Chemical compounds belonging to the class of coumarins have promising anti-inflammatory potential. Cinnamoyloxy-mammeisin (CNM) is a 4-phenylcoumarin that can be isolated from Brazilian geopropolis. To our knowledge, its anti-inflammatory activity has never been studied. Therefore, the present study investigated the anti-inflammatory activity of CNM and elucidated its mechanism of action on isolated macrophages. Pretreatment with CNM reduced neutrophil migration into the peritoneal and joint cavity of mice. Likewise, CNM reduced the in vitro and in vivo release of TNF-alpha and CXCL2/MIP-2. Regarding the possible molecular mechanism of action, CNM reduced the phosphorylation of proteins ERK. 1/2, JNK, p38 MAPK, and AP-1 (subunit c-jun) in PG-stimulated macrophages. Pretreatment with CNM also reduced NF-kappa beta activation in RAW 264.7 macrophages stably expressing the NF-kappa beta-luciferase reporter gene. On the other hand, it did not alter I kappa B alpha degradation or nuclear translocation of p65. Thus, the results of this study demonstrate promising anti-inflammatory activity of CNM and provide an explanation of its mechanism of action in macrophages via inhibition of MAPK signaling, AP-1, and NF-kappa B. C1 [Franchin, Marcelo; Rosalen, Pedro Luiz; da Cunha, Marcos Guilherme] Univ Estadual Campinas, Piracicaba Dent Sch, BR-13414903 Piracicaba, SP, Brazil. [Silva, Rangel Leal; Colon, David F.; Bassi, Gabriel Shimizu; Alves-Filho, Jose C.; Cunha, Fernando Q.; Cunha, Thiago Mattar] Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049900 Ribeirao Preto, SP, Brazil. [de Alencar, Severino Matias] Univ Sao Paulo, Luiz de Queiroz Coll Agr, BR-13418900 Piracicaba, SP, Brazil. [Ikegaki, Masaharu] Univ Fed Alfenas, Sch Pharmaceut Sci, BR-37715400 Alfenas, MG, Brazil. [Beutler, John A.] NCI, Mol Targets Lab, Ctr Canc Res, Frederick, MD 21702 USA. RP Cunha, TM (reprint author), Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049900 Ribeirao Preto, SP, Brazil. EM thicunha@usp.br RI Alencar, Severino/B-7743-2012; Cunha, Thiago/B-7729-2012; Alves-Filho, Jose Carlos/B-5814-2008; CEPID, CRID/J-2644-2015; Cunha, Fernando/M-3090-2014 OI Alencar, Severino/0000-0002-6637-7973; Cunha, Thiago/0000-0003-1084-0065; Alves-Filho, Jose Carlos/0000-0002-9918-8714; FU Sao Paulo Research Foundation (FAPESP) [2012/01365-0, 2012/22378-2, 2013/08216-2] FX This research was supported by the Sao Paulo Research Foundation (FAPESP) (2012/01365-0, 2012/22378-2, and 2013/08216-2/Center for Research in Inflammatory Disease-CRID). The authors are grateful to Mr. J. E. Borges de Souza for providing the geopropolis samples. NR 37 TC 4 Z9 4 U1 7 U2 10 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0163-3864 EI 1520-6025 J9 J NAT PROD JI J. Nat. Prod. PD JUL PY 2016 VL 79 IS 7 BP 1828 EP 1833 DI 10.1021/acs.jnatprod.6b00263 PG 6 WC Plant Sciences; Chemistry, Medicinal; Pharmacology & Pharmacy SC Plant Sciences; Pharmacology & Pharmacy GA DS1YZ UT WOS:000380422400017 PM 27367493 ER PT J AU Liu, HB Lohith, K Rosario, M Pulliam, TH O'Connor, RD Bell, LJ Bewley, CA AF Liu, Hongbing Lohith, Katheryn Rosario, Margaret Pulliam, Thomas H. O'Connor, Robert D. Bell, Lori J. Bewley, Carole A. TI Polybrominated Diphenyl Ethers: Structure Determination and Trends in Antibacterial Activity SO JOURNAL OF NATURAL PRODUCTS LA English DT Article ID SPONGE DYSIDEA-HERBACEA; AUSTRALIAN SPONGE; NATURAL-PRODUCTS; MARINE SPONGE; DISCOVERY; THROMBIN; STEROLS; CHLOREA; GENUS AB Antibacterial-guided fractionation of the Dictyoceratid sponges Lamellodysidea sp. and two samples of Dysidea granulosa yielded 14 polybrominated, diphenyl ethers including one new methoxy-containing compound (8). Their structures were elucidated by interpretation of spectroscopic data of the natural product and their methoxy derivatives. Most of the compounds showed strong antimicrobial activity with low- to sub-microgram mL(-1) minimum inhibitory concentrations against drug-susceptible and drug-resistant strains of Staphylococcus aureus and Enterococcus faecium, and two compounds inhibited Escherichia coli in a structure-dependent manner. C1 [Liu, Hongbing; Lohith, Katheryn; Rosario, Margaret; Pulliam, Thomas H.; O'Connor, Robert D.; Bewley, Carole A.] NIDDK, Bioorgan Chem Lab, NIH, Bethesda, MD 20892 USA. [Bell, Lori J.] Coral Reef Res Fdn, Koror 96940, PW, Palau. RP Bewley, CA (reprint author), NIDDK, Bioorgan Chem Lab, NIH, Bethesda, MD 20892 USA. EM caroleb@mail.nih.gov FU NIH Intramural Research Program (NIDDK) FX We thank J. Lloyd for HRMS data and the NCI Open Repository for organic extracts. This work was supported by the NIH Intramural Research Program (NIDDK). T.P. acknowledges a Park Scholarship. NR 30 TC 0 Z9 0 U1 2 U2 2 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0163-3864 EI 1520-6025 J9 J NAT PROD JI J. Nat. Prod. PD JUL PY 2016 VL 79 IS 7 BP 1872 EP 1876 DI 10.1021/acs.jnatprod.6b00229 PG 5 WC Plant Sciences; Chemistry, Medicinal; Pharmacology & Pharmacy SC Plant Sciences; Pharmacology & Pharmacy GA DS1YZ UT WOS:000380422400024 PM 27399938 ER PT J AU Lee, YJ Bernstock, JD Nagaraja, N Ko, B Hallenbeck, JM AF Lee, Yang-ja Bernstock, Joshua D. Nagaraja, Nandakumar Ko, Brian Hallenbeck, John M. TI Global SUMOylation facilitates the multimodal neuroprotection afforded by quercetin against the deleterious effects of oxygen/glucose deprivation and the restoration of oxygen/glucose SO JOURNAL OF NEUROCHEMISTRY LA English DT Article DE flavonoids; hypoxia-inducible factor-1 alpha (HIF-1 alpha); oxygen/glucose deprivation (OGD); quercetin; SUMOspecific isopeptidase (SENPs); SUMOylation ID ACTIVATED PROTEIN-KINASE; HEME OXYGENASE-1; FACTOR-I; SUMO CONJUGATION; TRANSCRIPTIONAL ACTIVITY; GLUCOSE DEPRIVATION; ALZHEIMERS-DISEASE; UP-REGULATION; TARGET GENES; MOUSE-BRAIN AB The putative neuroprotective properties of various flavonoids have long been reported. Among this class of chemicals, quercetin, a major flavone/flavonol naturally occurring in plants, deserves focused attention because of the myriad of beneficial effects observed in various in vitro and in vivo models of central nervous system damage/degeneration. However, the mechanisms governing the beneficial outcomes mediated by quercetin remain to be elucidated. In an effort to define the underlying molecular mechanisms, our study employed human/rat neuroblastoma cell lines (SHSY5Y and B35, respectively) and E18-derived rat primary cortical neurons upon which the effects of various flavonoids were examined. Of note, increases in the levels of global SUMOylation, a post-translational modification with the Small Ubiquitinlike MOdifier (SUMO) were pronounced. Quercetin treatment increased SUMOylation levels in both SHSY5Y cells and rat cortical neurons in a dose and time-dependent manner, possibly via the direct inactivation of certain SENPs (SUMO-specific isopeptidases). Of particular interest, cells treated with quercetin displayed increased tolerance to oxygen/glucose deprivation exposure, an in vitro model of ischemia. SHSY5Y cells treated with quercetin also increased the expression of Nrf2 (via a decrease in the levels of Keap1), heme oxygenase1 (HO-1), and nitric oxide synthase 1 (NOS1), which provide further protection from oxidative stress. In addition, the increased SUMOylation of HIF-1 alpha was noted and deemed to be significant. We hypothesize that SUMOylated HIF-1 alpha plays a fundamental role in the protection afforded and may underlie some of quercetin's ability to protect cells from oxygen/glucose deprivation-induced cell death, via an up-regulation of HO-1 and NOS1, which ultimately leads to the induction of pro-life NOS1/protein kinase G signaling. C1 [Lee, Yang-ja; Bernstock, Joshua D.; Nagaraja, Nandakumar; Ko, Brian; Hallenbeck, John M.] NINDS, Stroke Branch, NIH, Bldg 10,Rm5B02,MSC 1401,10 Ctr Dr, Bethesda, MD 20892 USA. [Nagaraja, Nandakumar] Univ Iowa, Comprehens Stroke Ctr, Carver Coll Med, Hawkins Dr, Iowa City, IA USA. RP Hallenbeck, JM (reprint author), NINDS, Stroke Branch, NIH, Bldg 10,Rm5B02,MSC 1401,10 Ctr Dr, Bethesda, MD 20892 USA. EM hallenbj@ninds.nih.gov FU Intramural Research Program of the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NINDS/NIH) FX We the authors thank Professors Wulf Paschen and Wei Yang (Multidisciplinary Neuroprotection Laboratories, Duke University, Durham, NC, USA) for the provision of the B35 rat neuroblastoma cell lines utilized during the course of this study. This work was supported by the Intramural Research Program of the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NINDS/NIH). The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. NR 73 TC 1 Z9 1 U1 3 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3042 EI 1471-4159 J9 J NEUROCHEM JI J. Neurochem. PD JUL PY 2016 VL 138 IS 1 BP 101 EP 116 DI 10.1111/jnc.13643 PG 16 WC Biochemistry & Molecular Biology; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA DS0CO UT WOS:000380263200007 PM 27087120 ER PT J AU Fernandez-Castillejo, S Valls, RM Castaner, O Rubio, L Catalan, U Pedret, A Macia, A Sampson, ML Covas, MI Fito, M Motilva, MJ Remaley, AT Sola, R AF Fernandez-Castillejo, Sara Valls, Rosa-Maria Castaner, Olga Rubio, Laura Catalan, Ursula Pedret, Anna Macia, Alba Sampson, Maureen L. Covas, Maria-Isabel Fito, Montserrat Motilva, Maria-Jose Remaley, Alan T. Sola, Rosa TI Polyphenol rich olive oils improve lipoprotein particle atherogenic ratios and subclasses profile: A randomized, crossover, controlled trial SO MOLECULAR NUTRITION & FOOD RESEARCH LA English DT Article DE HDL-C/HDL-P and LDL-P/HDL-P ratios; Lipoprotein subclasses; Olive oil; Polyphenols; Thyme ID NUCLEAR-MAGNETIC-RESONANCE; LOW-DENSITY-LIPOPROTEIN; CORONARY-HEART-DISEASE; PHYSICAL-ACTIVITY QUESTIONNAIRE; INSULIN-RESISTANCE; HDL CHOLESTEROL; CAROTID ATHEROSCLEROSIS; CARDIOVASCULAR-DISEASE; RISK; POPULATION AB ScopeLipoprotein particle measures performed by nuclear magnetic resonance (NMR), and associated ratios, may be better markers for atherosclerosis risk than conventional lipid measures. The effect of two functional olive oils, one enriched with its polyphenols (FVOO, 500ppm), and the other (FVOOT) with them (250ppm) and those of thyme (250ppm), versus a standard virgin olive oil (VOO), on lipoprotein particle atherogenic ratios and subclasses profiles was assessed. Methods and resultsIn a randomized, double-blind, crossover, controlled trial, 33 hypercholesterolemic individuals received 25 mL/day of VOO, FVOO, and FVOOT. Intervention periods were of 3 weeks separated by 2-week washout periods. Lipoprotein particle counts and subclasses were measured by NMR. Polyphenols from olive oil and thyme modified the lipoprotein subclasses profile and decreased the total LDL particle/total HDL particle (HDL-P), small HDL/large HDL, and HDL-cholesterol/HDL-P ratios, and decreased the lipoprotein insulin resistance index (LP-IR) (p<0.05). ConclusionOlive oil polyphenols, and those from thyme provided benefits on lipoprotein particle atherogenic ratios and subclasses profile distribution. Polyphenol-enriched olive oil is a way of increasing the olive oil healthy properties while consuming the same amount of fat, as well as a useful and complementary tool for the management of cardiovascular risk individuals. C1 [Fernandez-Castillejo, Sara; Valls, Rosa-Maria; Rubio, Laura; Catalan, Ursula; Pedret, Anna; Sola, Rosa] Univ Rovira & Virgili, Inst Invest Sanitaria Pere Virgili NFOC Grp, Fac Med & Ciencies Salut,CIBERDEM, Res Unit Lipids & Atherosclerosis,Hosp Univ St Jo, Reus, Spain. [Castaner, Olga; Covas, Maria-Isabel; Fito, Montserrat] IMIM Inst Hosp Mar Invest Med, CIBEROBN, Cardiovasc Risk & Nutr Res Grp, Barcelona, Spain. [Rubio, Laura; Macia, Alba; Motilva, Maria-Jose] Univ Lleida, Dept Food Technol, Lleida, Spain. [Rubio, Laura; Macia, Alba; Motilva, Maria-Jose] Univ Lleida, Agrotecnio Ctr, Lleida, Spain. [Sampson, Maureen L.; Remaley, Alan T.] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Remaley, Alan T.] NHLBI, Lipoprot Metab Sect, Cardiopulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Sola, R (reprint author), Univ Rovira & Virgili, Inst Invest Sanitaria Pere Virgili NFOC Grp, Fac Med & Ciencies Salut,CIBERDEM, Res Unit Lipids & Atherosclerosis,Hosp Univ St Jo, Reus, Spain. EM rosa.sola@urv.cat RI Fito, Montserrat/C-1822-2012; Rubio, Laura/L-6324-2014; OI Fito, Montserrat/0000-0002-1817-483X; Rubio, Laura/0000-0001-8973-2942; Castaner Nino, Olga/0000-0003-3169-997X; Catalan, Ursula/0000-0001-8884-9823 FU Spanish Ministry of Education and Science; VOHF Project [AGL2009-13517]; National Heart, Lung and Blood Institute of the National Institutes of Health in Bethesda, MD; ISCIII [JR14/00008] FX This study was supported by the Spanish Ministry of Education and Science, The VOHF Project (AGL2009-13517; DOI 10.1186/ISRCTN77500181). Work done by ATR was supported by the intramural National Heart, Lung and Blood Institute of the National Institutes of Health, in Bethesda, MD. O.C. was supported by a research contract of the ISCIII JR14/00008. We thank NUPROAS HB for their substantial contribution interpretingthe data and revising the manuscript critically. NR 47 TC 0 Z9 0 U1 4 U2 6 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1613-4125 EI 1613-4133 J9 MOL NUTR FOOD RES JI Mol. Nutr. Food Res. PD JUL PY 2016 VL 60 IS 7 BP 1544 EP 1554 DI 10.1002/mnfr.201501068 PG 11 WC Food Science & Technology SC Food Science & Technology GA DS1BV UT WOS:000380331700003 PM 26992050 ER PT J AU Kim, DH Kwon, S Byun, S Xiao, Z Park, S Wu, SY Chiang, CM Kemper, B Kemper, JK AF Kim, Dong-Hyun Kwon, Sanghoon Byun, Sangwon Xiao, Zhen Park, Sean Wu, Shwu-Yuan Chiang, Cheng-Ming Kemper, Byron Kemper, Jongsook Kim TI Critical role of RanBP2-mediated SUMOylation of Small Heterodimer Partner in maintaining bile acid homeostasis SO Nature Communications LA English DT Article ID ORPHAN NUCLEAR RECEPTOR; SUMO E3 LIGASE; DNA-BINDING; SHP; METABOLISM; REPRESSION; PATHWAYS; SIGNAL; GENES; FXR AB Bile acids (BAs) are recently recognized signalling molecules that profoundly affect metabolism. Because of detergent-like toxicity, BA levels must be tightly regulated. An orphan nuclear receptor, Small Heterodimer Partner (SHP), plays a key role in this regulation, but how SHP senses the BA signal for feedback transcriptional responses is not clearly understood. We show an unexpected function of a nucleoporin, RanBP2, in maintaining BA homoeostasis through SUMOylation of SHP. Upon BA signalling, RanBP2 co-localizes with SHP at the nuclear envelope region and mediates SUMO2 modification at K68, which facilitates nuclear transport of SHP and its interaction with repressive histone modifiers to inhibit BA synthetic genes. Mice expressing a SUMO-defective K68R SHP mutant have increased liver BA levels, and upon BA-or drug-induced biliary insults, these mice exhibit exacerbated cholestatic pathologies. These results demonstrate a function of RanBP2-mediated SUMOylation of SHP in maintaining BA homoeostasis and protecting from the BA hepatotoxicity. C1 [Kim, Dong-Hyun; Kwon, Sanghoon; Byun, Sangwon; Park, Sean; Kemper, Byron; Kemper, Jongsook Kim] Univ Illinois, Dept Mol & Integrat Physiol, Urbana, IL 61801 USA. [Xiao, Zhen] SAIC Frederick Inc, Frederick Natl Lab Canc Res, Lab Prote & Analyt Technol, Frederick, MD 21702 USA. [Wu, Shwu-Yuan; Chiang, Cheng-Ming] Univ Texas Southwestern Med Ctr, Dept Biochem, Simmons Comprehens Canc Ctr, Dallas, TX 75390 USA. [Wu, Shwu-Yuan; Chiang, Cheng-Ming] Univ Texas Southwestern Med Ctr, Dept Pharmacol, Dallas, TX 75390 USA. RP Kemper, JK (reprint author), Univ Illinois, Dept Mol & Integrat Physiol, Urbana, IL 61801 USA. EM jongsook@illinois.edu FU American Heart Association [14POST20420006]; Welch Foundation [I-1805]; Texas CPRIT [RP110471, RP140367]; National Institutes of Health [CA103867, DK62777, DK95842] FX We are grateful to Drs Andreas Werner and Frauke Melchior at University of Heidelberg for providing pGEX-3X-RanBP2FG and pBSK RanBP2 plasmids; Drs Kristina Schoonjans and Johan Auwerx at Ecole Polytechnique for GST-SHP plasmids; and Dr David Moore for SHP-KO mice. BA metabolites were identified in the Metabolomics Lab of the Roy J. Carver Biotechnology Center, University of Illinois at Urbana-Champaign. This study was supported by grants from an American Heart Association post-doctoral fellowship to D.-H.K. (14POST20420006), by Welch Foundation (I-1805) and Texas CPRIT (RP110471 and RP140367) grants to C.-M.C. and by National Institutes of Health grants to C.-M.C. (CA103867) and to J.K.K. (DK62777 and DK95842). NR 39 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 12179 DI 10.1038/ncomms12179 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DS4JO UT WOS:000380747600001 PM 27412403 ER PT J AU Sherman, E Barr, VA Merrill, RK Regan, CK Sommers, CL Samelson, LE AF Sherman, Eilon Barr, Valarie A. Merrill, Robert K. Regan, Carole K. Sommers, Connie L. Samelson, Lawrence E. TI Hierarchical nanostructure and synergy of multimolecular signalling complexes SO Nature Communications LA English DT Article ID CELL ANTIGEN RECEPTOR; FLUORESCENT PROTEINS; ACTIN POLYMERIZATION; T-CELLS; ACTIVATION; MICROSCOPY; LAT; LOCALIZATION; ALGORITHM; MOLECULES AB Signalling complexes are dynamic, multimolecular structures and sites for intracellular signal transduction. Although they play a crucial role in cellular activation, current research techniques fail to resolve their structure in intact cells. Here we present a multicolour, photoactivated localization microscopy approach for imaging multiple types of single molecules in fixed and live cells and statistical tools to determine the nanoscale organization, topology and synergy of molecular interactions in signalling complexes downstream of the T-cell antigen receptor. We observe that signalling complexes nucleated at the key adapter LAT show a hierarchical topology. The critical enzymes PLC gamma 1 and VAV1 localize to the centre of LAT-based complexes, and the adapter SLP-76 and actin molecules localize to the periphery. Conditional second-order statistics reveal a hierarchical network of synergic interactions between these molecules. Our results extend our understanding of the nanostructure of signalling complexes and are relevant to studying a wide range of multimolecular complexes. C1 [Sherman, Eilon] Hebrew Univ Jerusalem, Racah Inst Phys, IL-91904 Jerusalem, Israel. [Barr, Valarie A.; Merrill, Robert K.; Regan, Carole K.; Sommers, Connie L.; Samelson, Lawrence E.] NCI, Lab Cellular & Mol Biol, CCR, NIH, Bethesda, MD 20892 USA. RP Sherman, E (reprint author), Hebrew Univ Jerusalem, Racah Inst Phys, IL-91904 Jerusalem, Israel. EM sherman@phys.huji.ac.il FU Intramural Research Programs of the National Cancer Institute (The Center for Cancer Research) from the Marie Sklodowska-Curie actions of the European Commission [321993]; Lejwa Fund; Israeli Science Foundation [1417/13, 1937/13] FX We thank Subhadra Banerjee and Barbara J. Taylor at the FACS CORE Facility (NIH, NCI), Zeiss, Harald Hess (HHMI, Janelia Farm) for providing the PALM software, Wolfgang Losert (UMD) for multiple discussions on the data analyses, Thorstan Wiegand (Helmholtz Centre for Environmental Research - UFZ) for providing us his point-pattern analyses software and Hari Shroff (NIH, NIBIB) and Lakshmi Balagopalan (NIH, NCI) for their comments on the manuscript. This research was supported by the Intramural Research Programs of the National Cancer Institute (The Center for Cancer Research), Grant no. 321993 from the Marie Sklodowska-Curie actions of the European Commission, the Lejwa Fund, and Grants no. 1417/13 and no. 1937/13 from the Israeli Science Foundation. NR 42 TC 2 Z9 2 U1 6 U2 6 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 12161 DI 10.1038/ncomms12161 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DS4HB UT WOS:000380740900001 PM 27396911 ER PT J AU Lanteri, MC Kleinman, SH Glynn, SA Musso, D Hoots, WK Custer, BS Sabino, EC Busch, MP AF Lanteri, Marion C. Kleinman, Steven H. Glynn, Simone A. Musso, Didier Hoots, W. Keith Custer, Brian S. Sabino, Ester C. Busch, Michael P. TI Zika virus: a new threat to the safety of the blood supply with worldwide impact and implications SO TRANSFUSION LA English DT Editorial Material ID FRENCH-POLYNESIA; EMERGING PATHOGENS; FEBRUARY 2014; TRANSMISSION; OUTBREAK; DENGUE; BRAZIL; INFECTION; AMERICA; DONORS C1 [Lanteri, Marion C.; Custer, Brian S.; Busch, Michael P.] Univ Calif San Francisco, Blood Syst Res Inst, San Francisco, CA 94143 USA. [Lanteri, Marion C.; Custer, Brian S.; Busch, Michael P.] Univ Calif San Francisco, Dept Lab Med, San Francisco, CA 94143 USA. [Kleinman, Steven H.] Univ British Columbia, Vancouver, BC, Canada. [Glynn, Simone A.; Hoots, W. Keith] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. [Musso, Didier] Inst Louis Malarde, Unit Emerging Infect Dis, Tahiti, Fr Polynesia. [Sabino, Ester C.] Univ Sao Paulo, Inst Med Trop, Dept Molestias Infecciosas & Parasitarias, Sao Paulo, Brazil. RP Busch, MP (reprint author), Blood Syst Res Inst, 270 Masonic Ave, San Francisco, CA 94118 USA. EM mbusch@bloodsystems.org RI Sabino, Ester/F-7750-2010 OI Sabino, Ester/0000-0003-2623-5126 NR 85 TC 6 Z9 7 U1 7 U2 15 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0041-1132 EI 1537-2995 J9 TRANSFUSION JI Transfusion PD JUL PY 2016 VL 56 IS 7 BP 1907 EP 1914 DI 10.1111/trf.13677 PG 8 WC Hematology SC Hematology GA DS1NG UT WOS:000380362100034 PM 27282638 ER PT J AU Backonja, U Robledo, CA Wallace, ME Flores, KF Kiely, M AF Backonja, Uba Robledo, Candace A. Wallace, Maeve E. Flores, Katrina F. Kiely, Michele TI Reproductive Health Knowledge among African American Women Enrolled in a Clinic-Based Randomized Controlled Trial to Reduce Psychosocial and Behavioral Risk: Project DC-HOPE SO WOMENS HEALTH ISSUES LA English DT Article ID INTIMATE PARTNER VIOLENCE; UNITED-STATES; INTERVENTION; PREGNANCY; SMOKING AB Background: Washington, DC, has among the highest rates of sexually transmitted infections and unintended pregnancy in the United States. Increasing women's reproductive health knowledge may help to address these reproductive health issues. This analysis assessed whether high-risk pregnant African American women in Washington, DC, who participated in an intervention to reduce behavioral and psychosocial risks had greater reproductive health knowledge than women receiving usual care. Methods: Project DC-HOPE was a randomized, controlled trial that included pregnant African American women in Washington, DC, recruited during prenatal care (PNC). Women in the intervention group were provided reproductive health education and received tailored counseling sessions to address their psychosocial and behavioral risk(s) (cigarette smoking, environmental tobacco smoke exposure, depression, and intimate partner violence). Women in the control group received usual PNC. Participants completed a 10-item reproductive knowledge assessment at baseline (n = 1,044) and postpartum (n = 830). Differences in total reproductive health knowledge scores at baseline and postpartum between groups were examined via chi(2) tests. Differences in postpartum mean total score by group were assessed via multiple linear regression. Results: Women in both groups and at both time points scored approximately 50% on the knowledge assessments. At postpartum, women in the intervention group had higher total scores compared with women receiving usual care (mean 5.40 [SD 1.60] vs. 5.03 [SD 1.53] out of 10, respectively; p < .001). Conclusions: Although intervention participants increased reproductive health knowledge, overall scores remained low. Development of interventions designed to impart accurate, individually tailored information to women may promote reproductive health knowledge among high-risk pregnant African American women residing in Washington, DC. Published by Elsevier Inc. on behalf of Jacobs Institute of Women's Health. C1 [Backonja, Uba] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Off Director, Div Intramural Populat Hlth Res, Rockville, MD USA. [Robledo, Candace A.; Wallace, Maeve E.; Flores, Katrina F.; Kiely, Michele] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, Rockville, MD USA. [Backonja, Uba] Univ Washington, Sch Med, Dept Biomed Informat & Med Educ, 850 Republican St,Box 358047, Seattle, WA 98109 USA. [Robledo, Candace A.] Univ North Texas, Dept Behav & Community Hlth, Hlth Sci Ctr, 3500 Camp Bowie EAD 709H, Ft Worth, TX 76107 USA. [Wallace, Maeve E.] Tulane Univ, Sch Publ Hlth & Trop Med, Mary Amelia Douglas Whited Community Womens Hlth, Dept Global Community Hlth & Behav Sci, 143 South Liberty St, New Orleans, LA 70112 USA. [Flores, Katrina F.] Univ Calif San Diego, Dept Family Med & Publ Hlth, 9500 Gilman Dr MC 0828, La Jolla, CA 92093 USA. [Flores, Katrina F.] Univ Calif San Diego, Dept Pediat, 9500 Gilman Dr MC 0828, La Jolla, CA 92093 USA. [Kiely, Michele] CUNY, Sch Publ Hlth, 555 West 57th St,Room 1135, New York, NY 10019 USA. RP Backonja, U (reprint author), Univ Washington, Sch Med, Div Biomed & Hlth Informat, Dept Biomed Informat & Med Educ, 850 Republican St,Box 358047, Seattle, WA 98109 USA.; Backonja, U (reprint author), Univ Washington, Sch Med, Dept Biomed Informat & Med Educ, 850 Republican St,Box 358047, Seattle, WA 98109 USA. EM backonja@uw.edu FU National Institute of Child Health and Human Development [3U18HD030445, 3U18HD030447, 5U18HD31206, 3U18HD031919, 5U18HD036104]; National Center on Minority Health and Health Disparities, National Institutes of Health, Department of Health and Human Services; National Institute of Nursing Research/National Institutes of Health Graduate Partnership Program; National Institutes of Health, National Library of Medicine (NLM) Biomedical and Health Informatics Training Program at the University of Washington [T15LM007442]; Intramural Training Program, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development; Intramural Research Program of the NIH, Eunice Kennedy Shriver National Institute of Child Health and Human Development FX The Project DC-HOPE clinicaltrials.gov number is NCT0038182. The Project DC-HOPE was supported by grants no. 3U18HD030445; 3U18HD030447; 5U18HD31206; 3U18HD031919; 5U18HD036104, National Institute of Child Health and Human Development and the National Center on Minority Health and Health Disparities, National Institutes of Health, Department of Health and Human Services. The authors were supported by various grants. Dr. Backonja was supported through the National Institute of Nursing Research/National Institutes of Health Graduate Partnership Program and is currently supported by the National Institutes of Health, National Library of Medicine (NLM) Biomedical and Health Informatics Training Program at the University of Washington (Grant Nr. T15LM007442). Dr. Robledo, Dr. Wallace, and Ms. Flores were supported in part through the Intramural Training Program, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development. This research was also supported [in part] by the Intramural Research Program of the NIH, Eunice Kennedy Shriver National Institute of Child Health and Human Development. Author Dr. Michele Kiely had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Contact Dr. Michele Kiely for the full trial protocol. The authors have no potential conflicts of interest to report. NR 37 TC 0 Z9 0 U1 1 U2 1 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1049-3867 EI 1878-4321 J9 WOMEN HEALTH ISS JI Womens Health Iss. PD JUL-AUG PY 2016 VL 26 IS 4 BP 442 EP 451 DI 10.1016/j.whi.2016.03.005 PG 10 WC Public, Environmental & Occupational Health; Women's Studies SC Public, Environmental & Occupational Health; Women's Studies GA DS4KB UT WOS:000380748900012 PM 27094910 ER PT J AU Sterner, E Flanagan, N Gildersleeve, JC AF Sterner, Eric Flanagan, Natalie Gildersleeve, Jeffrey C. TI Perspectives on Anti-Glycan Antibodies Gleaned from Development of a Community Resource Database SO ACS CHEMICAL BIOLOGY LA English DT Review ID HEPARAN-SULFATE OLIGOSACCHARIDES; PHASE-I TRIAL; ADVANCED PANCREATIC-CANCER; ADVANCED SOLID TUMORS; MONOCLONAL-ANTIBODIES; CHEMOENZYMATIC SYNTHESIS; O-GLYCOSYLATION; CARBOHYDRATE MICROARRAY; MOLECULAR RECOGNITION; PROTEIN INTERACTIONS AB Antibodies are used extensively for a wide range of basic research and clinical applications. While an abundant and diverse collection of antibodies to protein antigens have been developed, good monoclonal antibodies to carbohydrates are much less common. Moreover, it can be difficult to determine if a particular antibody has the appropriate specificity, which antibody is best suited for a given application, and where to obtain that antibody. Herein, we provide an overview of the current state of the field, discuss challenges for selecting and using antiglycan antibodies, and summarize deficiencies in the existing repertoire of antiglycan antibodies. This perspective was enabled by collecting information from publications, databases, and commercial entities and assembling it into a single database, referred to as the Database of Anti-Glycan Reagents (DAGR). DAGR is a publicly available, comprehensive resource for anticarbohydrate antibodies, their applications, availability, and quality. C1 [Sterner, Eric; Flanagan, Natalie; Gildersleeve, Jeffrey C.] NCI, Biol Chem Lab, Ctr Canc Res, Frederick, MD 21702 USA. RP Gildersleeve, JC (reprint author), NCI, Biol Chem Lab, Ctr Canc Res, Frederick, MD 21702 USA. EM gildersj@mail.nih.gov FU Intramural Research Program of the National Cancer Institute, Nationl Institutes of Health FX We would like to thank W. Shea Wright and Matthew Gildersleeve for assisting in collecting data for the database. We also would like to thank Nancy Brandt, Ben Shorb, and Archana Shrestha for developing the Database of Anti-Glycan Reagents website. This work was supported by the Intramural Research Program of the National Cancer Institute, Nationl Institutes of Health. NR 78 TC 2 Z9 2 U1 5 U2 8 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1554-8929 EI 1554-8937 J9 ACS CHEM BIOL JI ACS Chem. Biol. PD JUL PY 2016 VL 11 IS 7 BP 1773 EP 1783 DI 10.1021/acschembio.6b00244 PG 11 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR8XO UT WOS:000380181900001 PM 27220698 ER PT J AU Marchand, C Abdelmalak, M Kankanala, J Huang, SY Kiselev, E Fesen, K Kurahashi, K Sasanuma, H Takeda, S Aihara, H Wang, ZQ Pommier, Y AF Marchand, Christophe Abdelmalak, Monica Kankanala, Jayakanth Huang, Shar-Yin Kiselev, Evgeny Fesen, Katherine Kurahashi, Kayo Sasanuma, Hiroyuki Takeda, Shunichi Aihara, Hideki Wang, Zhengqiang Pommier, Yves TI Deazaflavin Inhibitors of Tyrosyl-DNA Phosphodiesterase 2 (TDP2) Specific for the Human Enzyme and Active against Cellular TDP2 SO ACS CHEMICAL BIOLOGY LA English DT Article ID REPAIR ENZYME; KIAA0319; DYSLEXIA; ACTIVATION; EXPRESSION; COMPLEXES; ADDUCTS; BREAKS; DAMAGE; GENES AB Tyrosyl-DNA phosphodiesterase 2 repairs irreversible topoisomerase II-mediated cleavage complexes generated by anticancer topoisomerase-targeted drugs and processes replication intermediates for picornaviruses (VPg unlinkase) and hepatitis B virus. There is currently no TDP2 inhibitor in clinical development. Here, we report a series of deazaflavin derivatives that selectively inhibit the human TDP2 enzyme in a competitive manner both with recombinant and native TDP2. We show that mouse, fish, and C. elegans TDP2 enzymes are highly resistant to the drugs and that key protein residues are responsible for drug resistance. Among them, human residues L313 and T296 confer high resistance when mutated to their mouse counterparts. Moreover, deazaflavin derivatives show potent synergy in combination with the topoisomerase II inhibitor etoposide in human prostate cancer DU145 cells and TDP2-dependent synergy in TK6 human lymphoblast and avian DT40 cells. Deazaflavin derivatives represent the first suitable platform for the development of potent and selective TDP2 inhibitors. C1 [Marchand, Christophe; Abdelmalak, Monica; Huang, Shar-Yin; Kiselev, Evgeny; Fesen, Katherine; Pommier, Yves] NCI, Dev Therapeut Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Kankanala, Jayakanth; Wang, Zhengqiang] Univ Minnesota, Ctr Drug Design, Minneapolis, MN 55455 USA. [Kurahashi, Kayo; Aihara, Hideki] Univ Minnesota, Dept Biochem Mol Biol & Biophys, Minneapolis, MN 55455 USA. [Sasanuma, Hiroyuki; Takeda, Shunichi] Kyoto Univ, Grad Sch Med, Dept Radiat Genet, Sakyo Ku, Kyoto 6068501, Japan. RP Pommier, Y (reprint author), NCI, Dev Therapeut Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM pommier@nih.gov FU Faculty Research Development Grant of the Academic Health Center, University of Minnesota; JSPS Core-to-Core Program A. Advanced Research Networks; Intramural Research Program of the NIH, Center for Cancer Research, National Cancer Institute [Z01 BC 006161-17LMP] FX This research was partially supported by the Faculty Research Development Grant (to H.A. and Z.W.) of the Academic Health Center, University of Minnesota, by JSPS Core-to-Core Program, A. Advanced Research Networks and by the Intramural Research Program of the NIH, Center for Cancer Research, National Cancer Institute (Z01 BC 006161-17LMP). NR 27 TC 1 Z9 1 U1 4 U2 4 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1554-8929 EI 1554-8937 J9 ACS CHEM BIOL JI ACS Chem. Biol. PD JUL PY 2016 VL 11 IS 7 BP 1925 EP 1933 DI 10.1021/acschembio.5b01047 PG 9 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR8XO UT WOS:000380181900020 PM 27128689 ER PT J AU Jablonka, W Pham, V Nardone, G Gittis, A Silva-Cardoso, L Atella, GC Ribeiro, JMC Andersen, JF AF Jablonka, Willy Van Pham Nardone, Glenn Gittis, Apostolos Silva-Cardoso, Livia Atella, Georgia C. Ribeiro, Jose M. C. Andersen, John F. TI Structure and Ligand-Binding Mechanism of a Cysteinyl Leukotriene-Binding Protein from a Blood-Feeding Disease Vector SO ACS CHEMICAL BIOLOGY LA English DT Article ID BUG RHODNIUS-PROLIXUS; BLOODSUCKING BUG; HIGH-AFFINITY; NITRIC-OXIDE; HEME PROTEIN; SOFT TICKS; INSECT; LIPOCALIN; SIALOME; SALIVA AB Blood-feeding disease vectors mitigate the negative effects of hemostasis and inflammation through the binding of small-molecule agonists of these processes by salivary proteins. In this study, a lipocalin protein family member (LTBP1) from the saliva of Rhodnius prolixus, a vector of the pathogen Trypanosoma cruzi, is shown to sequester cysteinyl leukotrienes during feeding to inhibit immediate inflammatory responses. Calorimetric binding experiments showed that LTBP1 binds leukotrienes C-4 (LTC4), D-4 (LTD4), and E-4 (LTE4) but not biogenic amines, adenosine diphosphate, or other eicosanoid compounds. Crystal structures of ligand-free LTBP1 and its complexes with LTC4 and LTD4 reveal a conformational change during binding that brings Tyr114 into close contact with the ligand. LTC4 is cleaved in the complex, leaving free glutathione and a C-20 fatty acid. Chromatographic analysis of bound ligands showed only intact LTC4, suggesting that cleavage could be radiation-mediated. C1 [Jablonka, Willy; Van Pham; Ribeiro, Jose M. C.; Andersen, John F.] NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD 20852 USA. [Nardone, Glenn; Gittis, Apostolos] NIAID, Res Technol Branch, NIH, Rockville, MD 20852 USA. [Silva-Cardoso, Livia; Atella, Georgia C.] Univ Fed Rio de Janeiro, Inst Bioquim Med Leopoldo de Meis, BR-21941902 Rio De Janeiro, RJ, Brazil. RP Andersen, JF (reprint author), NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD 20852 USA. EM john.andersen@nih.gov RI Jablonka, Willy/D-2333-2017; OI Ribeiro, Jose/0000-0002-9107-0818 FU NIAID, National Institutes of Health; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq, Brazil); Fundacao de Amparo a Pesquisa do Estado do Rio de Janeiro (FAPERJ, Brazil); CNPq FX This work was supported by the intramural research program of the NIAID, National Institutes of Health. W.J. received funding from the Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq, Brazil). LS-C and GCA were funded by Fundacao de Amparo a Pesquisa do Estado do Rio de Janeiro (FAPERJ, Brazil) and CNPq. We also thank the staff of the Southeast Regional Collaborative Access Team, Advanced Photon Source, Argonne National Laboratory, for assistance with X-ray data collection. NR 37 TC 0 Z9 0 U1 0 U2 3 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1554-8929 EI 1554-8937 J9 ACS CHEM BIOL JI ACS Chem. Biol. PD JUL PY 2016 VL 11 IS 7 BP 1934 EP 1944 DI 10.1021/acschembio.6b00032 PG 11 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR8XO UT WOS:000380181900021 PM 27124118 ER PT J AU Sousa, EHS Ridnour, LA Gouveia, FS da Silva, CDS Wink, DA Lopes, LGD Sadler, PJ AF Silva Sousa, Eduardo Henrique Ridnour, Lisa A. Gouveia, Florencio S., Jr. Silva da Silva, Carlos Daniel Wink, David A. de Franca Lopes, Luiz Gonzaga Sadler, Peter J. TI Thiol-Activated HNO Release from a Ruthenium Antiangiogenesis Complex and HIF-1 alpha Inhibition for Cancer Therapy SO ACS CHEMICAL BIOLOGY LA English DT Article ID NITRIC-OXIDE; NITRONYL NITROXIDES; NO DONOR; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; AQUEOUS-SOLUTION; HEME-PROTEINS; BREAST-CANCER; REACTIVITY; HYPOXIA; PATHWAY AB Metallonitrosyl complexes are promising as nitric oxide (NO) donors for the treatment of cardiovascular, endothelial, and pathogenic diseases, as well as cancer. Recently, the reduced form of NO- (protonated as HNO, nitroxyl, azanone, isoelectronic with O-2) has also emerged as a candidate for therapeutic applications including treatment of acute heart failure and alcoholism. Here, we show that HNO is a product of the reaction of the Ru-II complex [Ru(bpy)(2)(SO3)(NO)](+) (1) with glutathione or N-acetyl-L-cysteine, using met-myoglobin and carboxy-PTIO (2-(4-carboxyphenyl)-4,4,5,5-tetramethylimidazoline-1-oxyl-3-oxide) as trapping agents. Characteristic absorption spectroscopic profiles for HNO reactions with met-myoglobin were obtained, as well as EPR evidence from carboxy-PTIO experiments. Importantly, the product HNO counteracted NO-induced as well as hypoxia-induced stabilization, of the tumor-suppressor HIF-1 alpha in cancer cells. The functional disruption of neovascularization by HNO produced by this metallonitrosyl complex was demonstrated in an in vitro angiogenesis model. This behavior is consistent with HNO biochemistry and contrasts with NO-mediated stabilization of HIF-1 alpha. Together, these results demonstrate for the first time thiol-dependent production of HNO by a ruthenium complex and subsequent destabilization of HIF-1 alpha. This work suggests that the complex warrants further investigation as a promising antiangiogenesis agent for the treatment of cancer. C1 [Silva Sousa, Eduardo Henrique; Gouveia, Florencio S., Jr.; Silva da Silva, Carlos Daniel; de Franca Lopes, Luiz Gonzaga] Univ Fed Ceara, Dept Organ & Inorgan Chem, Lab Bioinorgan Chem, Mister Hull Ave,Bldg 935, BR-60455760 Fortaleza, Ceara, Brazil. [Silva da Silva, Carlos Daniel] Fed Inst Bahia, Dept Chem, BR-40301150 Salvador, BA, Brazil. [Silva Sousa, Eduardo Henrique; Sadler, Peter J.] Univ Warwick, Dept Chem, Coventry CV4 7AL, W Midlands, England. [Ridnour, Lisa A.; Wink, David A.] NCI, Canc & Inflammat Program, Frederick, MD 21702 USA. RP Sousa, EHS (reprint author), Univ Fed Ceara, Dept Organ & Inorgan Chem, Lab Bioinorgan Chem, Mister Hull Ave,Bldg 935, BR-60455760 Fortaleza, Ceara, Brazil.; Sousa, EHS; Sadler, PJ (reprint author), Univ Warwick, Dept Chem, Coventry CV4 7AL, W Midlands, England. EM eduardohss@dqoi.ufc.br; p.j.sadler@warwick.ac.uk RI Sousa, Eduardo/J-8167-2014; Lopes, Luiz/J-4385-2015 OI Sousa, Eduardo/0000-0002-0007-8452; FU CAPES; CNPq [303732/2014-8, 312030/2015-0]; FUN CAP (PPSUS) [12535691-9]; European Research Council [247450]; Engineering and Physical Sciences Research Council [EP/F034210/1]; Intramural Research Program of the NIH, Cancer and Inflammation Program FX The authors are thankful to Brazilian agencies CAPES, CNPq (L.G.d.F.L. 303732/2014-8, E.H.S.S. 312030/2015-0), FUN CAP (PPSUS 12535691-9), the European Research Council (grant no 247450 to P.J.S.), and Engineering and Physical Sciences Research Council (grant no. EP/F034210/1 to PJS) and the Intramural Research Program of the NIH, Cancer and Inflammation Program (LAR) for financial support. NR 56 TC 1 Z9 1 U1 13 U2 14 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1554-8929 EI 1554-8937 J9 ACS CHEM BIOL JI ACS Chem. Biol. PD JUL PY 2016 VL 11 IS 7 BP 2057 EP 2065 DI 10.1021/acschembio.6b00222 PG 9 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR8XO UT WOS:000380181900034 ER PT J AU Harris, VM Sharma, R Cavett, J Kurien, BT Liu, K Koelsch, KA Rasmussen, A Radfar, L Lewis, D Stone, DU Kaufman, CE Li, SB Segal, B Wallace, DJ Weisman, MH Venuturupalli, S Kelly, JA Alarcon-Riquelme, ME Pons-Estel, B Jonsson, R Lu, X Gottenberg, JE Anaya, JM Cunninghame-Graham, DS Huang, AJW Brennan, MT Hughes, P Alevizos, I Miceli-Richard, C Keystone, EC Bykerk, VP Hirschfield, G Xie, G Ng, WF Nordmark, G Bucher, SM Eriksson, P Omdal, R Rhodus, NL Rischmueller, M Rohrer, M Wahren-Herlenius, M Witte, T Mariette, X Lessard, CJ Harley, JB Sivils, KL Scofield, RH AF Harris, Valerie M. Sharma, Rohan Cavett, Joshua Kurien, Biji T. Liu, Ke Koelsch, Kristi A. Rasmussen, Astrid Radfar, Lida Lewis, David Stone, Donald U. Kaufman, C. Erick Li, Shibo Segal, Barbara Wallace, Daniel J. Weisman, Michael H. Venuturupalli, Swamy Kelly, Jennifer A. Alarcon-Riquelme, Marta E. Pons-Estel, Bernardo Jonsson, Roland Lu, Xianglan Gottenberg, Jacques-Eric Anaya, Juan-Manuel Cunninghame-Graham, Deborah S. Huang, Andrew J. W. Brennan, Michael T. Hughes, Pamela Alevizos, Ilias Miceli-Richard, Corinne Keystone, Edward C. Bykerk, Vivian P. Hirschfield, Gideon Xie, Gang Ng, Wan-Fai Nordmark, Gunnel Bucher, Sara Magnusson Eriksson, Per Omdal, Roald Rhodus, Nelson L. Rischmueller, Maureen Rohrer, Michael Wahren-Herlenius, Marie Witte, Torsten Mariette, Xavier Lessard, Christopher J. Harley, John B. Sivils, Kathy L. Scofield, R. Hal TI Klinefelter's syndrome (47,XXY) is in excess among men with Sjogren's syndrome SO CLINICAL IMMUNOLOGY LA English DT Article DE Sjogren's syndrome; X chromosome; Klinefelter's syndrome; Sex bias ID SYSTEMIC-LUPUS-ERYTHEMATOSUS; RHEUMATOID-ARTHRITIS; AUTOIMMUNE-DISEASES; CLASSIFICATION CRITERIA; X-CHROMOSOME; AMERICAN-COLLEGE; INACTIVATION; MONOSOMY; WOMEN; LOCI AB Primary Sjogren's syndrome (pSS) has a strong female bias. We evaluated an X chromosome dose effect by analyzing 47,XXY (Klinefelter's syndrome, 1 in 500 live male births) among subjects with pSS. 47,XXY was determined by examination of fluorescence intensity of single nucleotide polymorphisms from the X and Y chromosomes. Among 136 pSS men there were 4 with 47,XXY. This was significantly different from healthy controls (1 of 1254 had 47)0(Y, p = 0.0012 by Fisher's exact test) as well men with rheumatoid arthritis (0 of 363 with 47,XXY), but not different compared to men with systemic lupus erythematosus (SLE) (4 of 136 versus 8 of 306, Fisher's exact test p = NS). These results are consistent with the hypothesis that the number of X chromosomes is critical for the female bias of pSS, a property that may be shared with SLE but not RA. Published by Elsevier Inc. C1 [Harris, Valerie M.; Cavett, Joshua; Kurien, Biji T.; Koelsch, Kristi A.; Rasmussen, Astrid; Kelly, Jennifer A.; Alarcon-Riquelme, Marta E.; Lessard, Christopher J.; Sivils, Kathy L.; Scofield, R. Hal] Oklahoma Med Res Fdn, Arthrit & Clin Immunol Program, 825 NE 13th St, Oklahoma City, OK 73104 USA. [Harris, Valerie M.; Sivils, Kathy L.; Scofield, R. Hal] Univ Oklahoma, Hlth Sci Ctr, Coll Med, Dept Pathol, Oklahoma City, OK 73190 USA. [Sharma, Rohan; Cavett, Joshua; Kurien, Biji T.; Koelsch, Kristi A.; Kaufman, C. Erick; Scofield, R. Hal] Univ Oklahoma, Hlth Sci Ctr, Coll Med, Dept Med, Oklahoma City, OK 73190 USA. [Sharma, Rohan; Kurien, Biji T.; Koelsch, Kristi A.; Scofield, R. Hal] Dept Vet Affairs Med Ctr, Med Serv, Oklahoma City, OK USA. [Liu, Ke; Harley, John B.] Cincinnati Childrens Hosp Med Ctr, CAGE, Cincinnati, OH 45229 USA. [Liu, Ke; Harley, John B.] Univ Cincinnati, Coll Med, Cincinnati, OH USA. [Radfar, Lida; Lewis, David] Univ Oklahoma, Hlth Sci Ctr, Coll Dent, Dept Oral Diag & Radiol, Oklahoma City, OK 73190 USA. [Stone, Donald U.] Univ Oklahoma, Coll Med, Dean McGee Eye Inst, Oklahoma City, OK 73190 USA. [Stone, Donald U.] Univ Oklahoma, Coll Med, Dept Ophthalmol, Oklahoma City, OK 73190 USA. [Li, Shibo; Lu, Xianglan] Univ Oklahoma, Hlth Sci Ctr, Coll Med, Dept Pediat, Oklahoma City, OK 73104 USA. [Segal, Barbara] Univ Minnesota, Sch Med, Dept Med, Minneapolis, MN 55455 USA. [Wallace, Daniel J.; Weisman, Michael H.; Venuturupalli, Swamy] Cedars Sinai Med Ctr, Div Rheumatol, Los Angeles, CA 90048 USA. [Alarcon-Riquelme, Marta E.] Univ Granada, Ctr Pfizer, Andalusian Govt Genom & Oncol Res, Pts Granada 18016, Spain. [Pons-Estel, Bernardo] Sanat Parque, Rosario, Santa Fe, Argentina. [Huang, Andrew J. W.; Hughes, Pamela; Rohrer, Michael] Univ Minnesota, Dept Dev & Surg Sci, Minneapolis, MN USA. [Jonsson, Roland] Univ Bergen, Dept Clin Sci, Broegelmann Res Lab, N-5021 Bergen, Norway. [Jonsson, Roland] Haukeland Hosp, Dept Rheumatol, N-5021 Bergen, Norway. [Gottenberg, Jacques-Eric] Strasbourg Univ, Strasbourg, France. [Anaya, Juan-Manuel] Univ Rosario, Sch Med & Hlth Sci, Ctr Autoimmune Dis Res CREA, Bogota, Colombia. [Cunninghame-Graham, Deborah S.] Kings Coll London, Div Genet & Mol Med, London, England. [Cunninghame-Graham, Deborah S.] Kings Coll London, Div Immunol Infect & Inflammatory Dis, London, England. [Brennan, Michael T.] Carolinas Med Ctr, Dept Oral Med, Charlotte, NC 28232 USA. [Alevizos, Ilias] Natl Inst Dent & Craniofacial Res, Mol Physiol & Therapeut Branch, Bethesda, MD USA. [Miceli-Richard, Corinne; Mariette, Xavier] Univ Paris 11, AP HP, INSERM, Dept Rheumatol,U1012, Le Kremlin Bicetre, France. [Keystone, Edward C.] Mt Sinai Hosp, Dept Med, Toronto, ON M5G 1X5, Canada. [Keystone, Edward C.] Univ Toronto, Toronto, ON, Canada. [Bykerk, Vivian P.] Hosp Special Surg, New York, NY USA. [Hirschfield, Gideon] Univ Birmingham, NIHR Biomed Res Unit, Birmingham, W Midlands, England. [Xie, Gang] Univ Toronto, Samuel Lunenfeld Res Inst, Dept Med, Toronto, ON, Canada. [Xie, Gang] Univ Toronto, Dept Med, Samuel Lunenfeld Res Inst, Dept Immunol, Toronto, ON, Canada. [Xie, Gang] Univ Toronto, Dept Med, Samuel Lunenfeld Res Inst, Dept Mol Genet, Toronto, ON, Canada. [Xie, Gang] Univ Toronto, Dept Med, Toronto Gen Res Inst, Dept Med, Toronto, ON, Canada. [Xie, Gang] Univ Toronto, Dept Med, Toronto Gen Res Inst, Dept Immunol, Toronto, ON, Canada. [Xie, Gang] Univ Toronto, Dept Med, Toronto Gen Res Inst, Dept Mol Genet, Toronto, ON, Canada. [Ng, Wan-Fai] Newcastle Univ, Musculoskeletal Res Grp, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England. [Ng, Wan-Fai] Newcastle Univ, NIHR Newcastle Biomed Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England. [Nordmark, Gunnel] Uppsala Univ, Dept Med Sci, Rheumatol Sect, Uppsala, Sweden. [Nordmark, Gunnel] Uppsala Univ, Sci Life Lab, Uppsala, Sweden. [Bucher, Sara Magnusson] Orebro Univ Hosp, Dept Rheumatol, Orebro, Sweden. [Omdal, Roald] Linkoping Univ, Dept Clin & Expt Med, Rheumatol, Linkoping, Sweden. [Eriksson, Per] Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway. [Rhodus, Nelson L.] Univ Minnesota, Sch Dent, Dept Diagnost & Biol Sci, Minneapolis, MN 55455 USA. [Rischmueller, Maureen] Queen Elizabeth Hosp, Dept Rheumatol, Woodville South, SA 5011, Australia. [Rischmueller, Maureen] Univ Adelaide, Discipline Med, Adelaide, SA 5000, Australia. [Wahren-Herlenius, Marie] Karolinska Inst, Dept Med, Rheumatol Unit, Stockholm, Sweden. [Witte, Torsten] Hannover Med Sch, Clin Immunol & Rheumatol, D-30625 Hannover, Germany. [Harley, John B.] Dept Vet Affairs Med Ctr, Med Serv, Cincinnati, OH USA. RP Scofield, RH (reprint author), 825 NE 13th St, Oklahoma City, OK 73104 USA. EM hal-scofield@omrf.ouhsc.edu OI Anaya, Juan-Manuel/0000-0002-6444-1249; Wahren-Herlenius, Marie/0000-0002-0915-7245; Huang, Andrew JW/0000-0003-1939-9149 FU NIH [AR053483, AI082714, AR053734, GM104938]; US Department of Veterans Affairs FX This work has been supported in part by NIH grants AR053483, AI082714, AR053734 and GM104938 as well as by a Merit Review Award from the US Department of Veterans Affairs. NR 27 TC 1 Z9 1 U1 6 U2 8 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1521-6616 EI 1521-7035 J9 CLIN IMMUNOL JI Clin. Immunol. PD JUL PY 2016 VL 168 BP 25 EP 29 DI 10.1016/j.clim.2016.04.002 PG 5 WC Immunology SC Immunology GA DS0OW UT WOS:000380297600004 PM 27109640 ER PT J AU Cassler, NM Merrill, D Bichakjian, CK Brownell, I AF Cassler, Nicole M. Merrill, Dean Bichakjian, Christopher K. Brownell, Isaac TI Merkel Cell Carcinoma Therapeutic Update SO CURRENT TREATMENT OPTIONS IN ONCOLOGY LA English DT Review DE Merkel cell carcinoma; Neuroendocrine; Polyomavirus; MCV; CM2B4; VP1; PI3K; AKT; FDG-PET; mTOR; MLN0128; PD-L1; Avelumab; Pembrolizumab; Idelalisib; Cabozantinib; Pazopanib; Imatinib; Octreotide; Vaccine ID T-ANTIGEN; NEUROENDOCRINE TUMORS; INDEPENDENT PREDICTOR; RADIONUCLIDE THERAPY; METASTATIC MELANOMA; UNTREATED MELANOMA; RADIATION-THERAPY; LIVER METASTASES; PHASE-I; POLYOMAVIRUS AB Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine tumor of the skin. Early-stage disease can be cured with surgical resection and radiotherapy (RT). Sentinel lymph node biopsy (SLNB) is an important staging tool, as a microscopic MCC is frequently identified. Adjuvant RT to the primary excision site and regional lymph node bed may improve locoregional control. However, newer studies confirm that patients with biopsy-negative sentinel lymph nodes may not benefit from regional RT. Advanced MCC currently lacks a highly effective treatment as responses to chemotherapy are not durable. Recent work suggests that immunotherapy targeting the programmed cell death receptor 1/programmed cell death ligand 1 (PD-1/PD-L1) checkpoint holds great promise in treating advanced MCC and may provide durable responses in a portion of patients. At the same time, high-throughput sequencing studies have demonstrated significant differences in the mutational profiles of tumors with and without the Merkel cell polyomavirus (MCV). An important secondary endpoint in the ongoing immunotherapy trials for MCC will be determining if there is a response difference between the virus-positive MCC tumors that typically lack a large mutational burden and the virus-negative tumors that have a large number of somatic mutations and predicted tumor neoantigens. Interestingly, sequencing studies have failed to identify a highly recurrent activated driver pathway in the majority of MCC tumors. This may explain why targeted therapies can demonstrate exceptional responses in case reports but fail when treating all comers with MCC. Ultimately, a precision medicine approach may be more appropriate for treating MCC, where identified driver mutations are used to direct targeted therapies. At a minimum, stratifying patients in future clinical trials based on tumor viral status should be considered as virus-negative tumors are more likely to harbor activating driver mutations. C1 [Cassler, Nicole M.] Walter Reed Natl Mil Med Ctr, Dept Dermatol, Bethesda, MD USA. [Merrill, Dean] Univ Missouri, Sch Med, Kansas City, MO 64108 USA. [Bichakjian, Christopher K.] Univ Michigan, Sch Med, Dept Dermatol, Ann Arbor, MI USA. [Brownell, Isaac] NCI, Dermatol Branch, NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. RP Brownell, I (reprint author), NCI, Dermatol Branch, NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. EM Isaac.brownell@nih.gov OI Merrill, Eric/0000-0001-7175-5046 NR 84 TC 3 Z9 3 U1 6 U2 9 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1527-2729 EI 1534-6277 J9 CURR TREAT OPTION ON JI Curr. Treat. Options Oncol. PD JUL PY 2016 VL 17 IS 7 AR 36 DI 10.1007/s11864-016-0409-1 PG 18 WC Oncology SC Oncology GA DR8RI UT WOS:000380164600002 PM 27262710 ER PT J AU Legro, RS Dodson, WC Kunselman, AR Stetter, CM Kris-Etherton, PM Williams, NI Gnatuk, CL Estes, SJ Allison, KC Sarwer, DB Diamond, MP Schlaff, WD Casson, PR Christman, GM Barnhart, KT Bates, GW Usadi, R Lucidi, S Baker, V Zhang, HP Eisenberg, E Coutifaris, C Dokras, A AF Legro, Richard S. Dodson, William C. Kunselman, Allen R. Stetter, Christy M. Kris-Etherton, Penny M. Williams, Nancy I. Gnatuk, Carol L. Estes, Stephanie J. Allison, Kelly C. Sarwer, David B. Diamond, Michael P. Schlaff, William D. Casson, Peter R. Christman, Gregory M. Barnhart, Kurt T. Bates, G. Wright Usadi, Rebecca Lucidi, Scott Baker, Valerie Zhang, Heping Eisenberg, Esther Coutifaris, Christos Dokras, Anuja TI Benefit of Delayed Fertility Therapy With Preconception Weight Loss Over Immediate Therapy in Obese Women With PCOS SO JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM LA English DT Article ID POLYCYSTIC-OVARY-SYNDROME; RANDOMIZED CLINICAL-TRIAL; BASE-LINE CHARACTERISTICS; BODY-MASS INDEX; CONSORT STATEMENT; INFERTILE WOMEN; CONCEPTION; CLOMIPHENE; PREGNANCY; OUTCOMES AB Context: In overweight/obese women with polycystic ovary syndrome (PCOS), the relative benefit of delaying infertility treatment to lose weight vs seeking immediate treatment is unknown. Objective: We compared the results of two, multicenter, concurrent clinical trials treating infertility in women with PCOS. Design, Setting, and Participants: This was a secondary analysis of two randomized trials conducted at academic health centers studying women 18-40 years of age who were overweight/obese and infertile with PCOS. Intervention: We compared immediate treatment with clomiphene from the Pregnancy in Polycystic Ovary Syndrome II (PPCOS II) trial (N = 187) to delayed treatment with clomiphene after preconception treatment with continuous oral contraceptives, lifestyle modification (Lifestyle: including caloric restriction, antiobesity medication, behavioral modification, and exercise) or the combination of both (combined) from the Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (OWL PCOS) trial (N = 142). Main Outcome Measures: Live birth, pregnancy loss, and ovulation were measured. Results: In PPCOS II, after four cycles of clomiphene, the cumulative per-cycle ovulation rate was 44.7% (277/619) and the cumulative live birth rate was 10.2% (19/187), nearly identical to that after oral contraceptive pretreatment in the OWL PCOS trial (ovulation 45%[67/149] and live birth: 8.5% [4/47]). In comparison, deferred clomiphene treatment preceded by lifestyle and combined treatment in OWL PCOS offered a significantly better cumulative ovulation rate compared to immediate treatment with clomiphene. (Lifestyle: 62.0% [80/129]; risk ratio compared to PPCOS II = 1.4; 95% confidence interval [CI], 1.1-1.7; P = .003; combined: 64.3% [83/129]; risk ratio compared to PPCOS II = 1.4; 95% CI, 1.2-1.8; P = .001 and a significantly better live birth rate lifestyle: 25.0% [12/48]; risk ratio compared to PPCOS II = 2.5; 95% CI, 1.3-4.7; P = .01 and combined: 25.5% [12/47]; risk ratio compared to PPCOS II = 2.5; 95% CI, 1.3-4.8; P = .01). Conclusions: These data show the benefit of improved ovulation and live birth with delayed infertility treatment with clomiphene citrate when preceded by lifestyle modification with weight loss compared with immediate treatment. Pretreatment with oral contraceptives likely has little effect on the ovulation and live birth rate compared with immediate treatment. C1 [Legro, Richard S.; Dodson, William C.; Gnatuk, Carol L.; Estes, Stephanie J.] Penn State Coll Med, Dept Obstet & Gynecol, Hershey, PA USA. [Legro, Richard S.; Kunselman, Allen R.; Stetter, Christy M.] Penn State Coll Med, Dept Publ Hlth Sci, Hershey, PA USA. [Kris-Etherton, Penny M.] Penn State Coll Hlth & Human Dev, Dept Nutr Sci, University Pk, PA USA. [Williams, Nancy I.] Penn State Coll Hlth & Human Dev, Dept Kinesiol, University Pk, PA USA. [Allison, Kelly C.; Sarwer, David B.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA. [Sarwer, David B.] Univ Penn, Dept Surg, Perelman Sch Med, Philadelphia, PA 19104 USA. [Diamond, Michael P.] Wayne State Univ, Dept Obstet & Gynecol, Detroit, MI USA. [Schlaff, William D.] Univ Colorado, Dept Obstet & Gynecol, Denver, CO 80202 USA. [Casson, Peter R.] Univ Vermont, Dept Obstet & Gynecol, Burlington, VT USA. [Christman, Gregory M.] Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA. [Barnhart, Kurt T.; Coutifaris, Christos; Dokras, Anuja] Univ Penn, Dept Obstet & Gynecol, Perelman Sch Med, Philadelphia, PA 19104 USA. [Bates, G. Wright] Univ Alabama Birmingham, Dept Obstet & Gynecol, Birmingham, AL 35294 USA. [Usadi, Rebecca] Carolinas Med Ctr, Charlotte, NC 28203 USA. [Lucidi, Scott] Virginia Commonwealth Univ, Dept Obstet & Gynecol, Richmond, VA USA. [Baker, Valerie] Stanford Univ, Med Ctr, Dept Obstet & Gynecol, Stanford, CA 94305 USA. Yale Univ, Sch Publ Hlth, Dept Biostat, New Haven, CT USA. [Eisenberg, Esther] Eunice Kennedy Shriver NICHD, Fertility &Infertility Branch, Rockville, MD USA. RP Legro, RS (reprint author), MS Hershey Med Ctr, Penn State Coll Med, Dept Obstet & Gynecol, 500 Univ Dr,H103, Hershey, PA 17033 USA. EM RSL1@PSU.EDU FU Eunice Kennedy Shriver National Institutes of Child Health and Human Development (NICHD); National Center for Research Resources; National Center for Advancing Translational Sciences at the National Institutes of Health [R01 HD056510, U10 HD27049, U10 HD38992, U10HD055925, U10 HD39005, U10 HD38998, U10 HD055936, U10 HD055944]; National Center for Advancing Translational Sciences at the National Institutes of Health (Penn State Clinical and Translational Institute) [UL1 TR000127]; National Center for Advancing Translational Sciences at the National Institutes of Health (UVA Core Ligand Assay Core of the Specialized Cooperative Centers Program in Reproduction of the NICHD) [U54 HD29834]; Euro screen; Astra Zeneca; Clarus Therapeutics; Takeda; Kindex; Ferring; AbbVie; JDS Therapeutics; BAROnova; EnteroMedics; Ethicon FX This project was supported by the Eunice Kennedy Shriver National Institutes of Child Health and Human Development (NICHD), National Center for Research Resources, and the National Center for Advancing Translational Sciences at the National Institutes of Health, through Grants R01 HD056510 (to R.S.L.), U10 HD27049 (to C.C.), U10 HD38992 (to R.S.L.), U10HD055925 (to H.Z.), U10 HD39005 (to M.P.D.), U10 HD38998 (to W.D.S.), U10 HD055936 (to G.M.C.), and U10 HD055944 (to P.R.C.), UL1 TR000127 (Penn State Clinical and Translational Institute), and U54 HD29834 (UVA Core Ligand Assay Core of the Specialized Cooperative Centers Program in Reproduction of the NICHD). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.; Trial Registration: clinicaltrials. gov: Treatment of Hyperandrogenism Versus Insulin Resistance in Infertile Polycystic Ovary Syndrome (PCOS) Women: NCT00704912 and PPCOS II: NCT00719186. Disclosure Summary: R.S.L. reports consulting fees from Euro screen, Astra Zeneca, Clarus Therapeutics, Takeda, and Kindex, and research funding from Ferring and Astra Zeneca. S.J.E. and W.M. reports research funding from AbbVie. A.D. reports consulting fees from JDS Therapeutics. A.R.K. reports ownership of Merck stock. D.B.S. reports consulting fees from BAROnova, EnteroMedics, and Ethicon. The other investigators report no disclosures. NR 28 TC 4 Z9 4 U1 4 U2 4 PU ENDOCRINE SOC PI WASHINGTON PA 2055 L ST NW, SUITE 600, WASHINGTON, DC 20036 USA SN 0021-972X EI 1945-7197 J9 J CLIN ENDOCR METAB JI J. Clin. Endocrinol. Metab. PD JUL PY 2016 VL 101 IS 7 BP 2658 EP 2666 DI 10.1210/jc.2016-1659 PG 9 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DR9OA UT WOS:000380224800007 PM 27172435 ER PT J AU Gjesdal, O Yoneyama, K Mewton, N Wu, C Gomes, AS Hundley, G Prince, M Shea, S Liu, K Bluemke, DA Lima, JAC AF Gjesdal, Ola Yoneyama, Kihei Mewton, Nathan Wu, Colin Gomes, Antoinette S. Hundley, Gregory Prince, Martin Shea, Steven Liu, Kiang Bluemke, David A. Lima, Joao A. C. TI Reduced Long Axis Strain Is Associated With Heart Failure and Cardiovascular Events in the Multi-Ethnic Study of Atherosclerosis SO JOURNAL OF MAGNETIC RESONANCE IMAGING LA English DT Article ID ATRIOVENTRICULAR PLANE DISPLACEMENT; VENTRICULAR SYSTOLIC FUNCTION; MYOCARDIAL-INFARCTION; MAGNETIC-RESONANCE; TISSUE DOPPLER; ECHOCARDIOGRAPHY; HYPERTENSION; DEFORMATION; PROGNOSIS; INDEX AB Purpose: To propose long axis strain (LAS), a novel index of global left ventricle (LV) function, as a sensitive and powerful predictor of hard cardiovascular events and heart failure in the Multi-Ethnic Study of Atherosclerosis (MESA). Materials and Methods: Strain is an index of relative myocardial deformation, and enables normalization for differences in heart size. Measurement of strain conventionally requires dedicated software and protocols for image acquisition. LAS, however, can be analyzed using a caliper tool from conventional LV long axis magnetic resonance imaging (MRI) cine loops, reflecting the average myocardial contraction in the longitudinal direction. In all, 1651 participants (53% men) of the MESA study, without a history of myocardial infarction or heart failure, were assessed using conventional cine MR images. LV lengths were assessed at end-diastole (EDL) and end-systole (ESL), and LAS was calculated as 100(star)(EDL-ESL)/EDL. Participants were followed for 6.8 +/- 1.8 years for a composite endpoint of congestive heart failure or hard cardiovascular events, and the predictive ability of LAS was tested, unadjusted and adjusted for established cardiovascular risk factors. Results: A total of 114 events were observed. Mean LAS was 11.7 +/- 2.5% and 10.0 +/- 2.7% in participants without and with events, respectively (P < 0.001). Increased LAS reduced the hazard ratio to 0.75 for univariate, and 0.88 for multivariate assessments, respectively (both P < 0.001). Conclusion: Assessment of long axis LV deformation by LAS is feasible and reproducible. Moreover, LAS predicts hard cardiovascular events and congestive heart failure in a multi-ethnic population without overt cardiovascular disease at inclusion. C1 [Gjesdal, Ola; Yoneyama, Kihei; Mewton, Nathan; Lima, Joao A. C.] Johns Hopkins Univ, Dept Cardiol, Baltimore, MD USA. [Gjesdal, Ola] Oslo Univ Hosp, Dept Cardiol, Oslo, Norway. [Wu, Colin] NHLBI, Off Biostat Res, Bldg 10, Bethesda, MD 20892 USA. [Gomes, Antoinette S.] Univ Calif Los Angeles, Sch Med, Dept Radiol, Los Angeles, CA 90024 USA. [Hundley, Gregory] Wake Forest Univ Hlth Sci, Dept Cardiol, Winston Salem, NC USA. [Prince, Martin] Columbia Univ, Dept Radiol, New York, NY USA. [Shea, Steven] Columbia Univ, Dept Med, New York, NY USA. [Shea, Steven] Columbia Univ, Dept Epidemiol, New York, NY USA. [Liu, Kiang] Northwestern Univ, Sch Med, Dept Prevent Med, Chicago, IL USA. [Bluemke, David A.] Natl Inst Biomed Imaging & Bioengn, NIH, Ctr Clin, Bethesda, MD USA. RP Lima, JAC (reprint author), Johns Hopkins Univ Hosp, Med & Radiol, 600 North Wolfe St,Blalock 524D1, Baltimore, MD 21287 USA. EM jlima@jhmi.edu OI Bluemke, David/0000-0002-8323-8086 FU National Heart, Lung, and Blood Institute [R01-HL66075-01]; Multi-Ethnic Study of Atherosclerosis [N01-HC-95162, N01-HC-95168, N01-HC-95169]; Roche Diagnostics; Fulbright Foundation; Norwegian Research Council; Norwegian Medical Association; Norwegian Society of Cardiology FX Contract grant sponsor: National Heart, Lung, and Blood Institute; contract grant number: R01-HL66075-01; Contract grant sponsor: Multi-Ethnic Study of Atherosclerosis; contract grant numbers: N01-HC-95162, N01-HC-95168, and N01-HC-95169; Contract grant sponsor: Roche Diagnostics; Contract grant sponsors: Fulbright Foundation, the Norwegian Research Council, the Norwegian Medical Association and the Norwegian Society of Cardiology (all to O.G.). NR 29 TC 0 Z9 0 U1 0 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1053-1807 EI 1522-2586 J9 J MAGN RESON IMAGING JI J. Magn. Reson. Imaging PD JUL PY 2016 VL 44 IS 1 BP 178 EP 185 DI 10.1002/jmri.25135 PG 8 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA DR7GK UT WOS:000380067800020 PM 26731196 ER PT J AU Tempero, M AF Tempero, Margaret TI The Greatest Show on Earth! SO JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK LA English DT Editorial Material C1 [Tempero, Margaret] UCSF Pancreas Ctr, San Francisco, CA 94143 USA. [Tempero, Margaret] ASCO Board Directors, Alexandria, VA 22314 USA. [Tempero, Margaret] ASCO, Alexandria, VA 22314 USA. [Tempero, Margaret] ASCO Conquer Canc Fdn Board, Alexandria, VA 22314 USA. [Tempero, Margaret] NCI, Clin Oncol Study Sect, Bethesda, MD 20892 USA. [Tempero, Margaret] NCI, Board Sci Counselors Subcomm, Bethesda, MD 20892 USA. [Tempero, Margaret] Canc Prevent & Res Inst Texas, Clin & Translat Study Sect, Austin, TX 78701 USA. [Tempero, Margaret] FDA, Oncol Drug Advisory Comm, Silver Spring, MD 20993 USA. [Tempero, Margaret] UNMC, Eppley Canc Ctr, Omaha, NE 68198 USA. [Tempero, Margaret] UCSF, Div Med Oncol, San Francisco, CA 94143 USA. [Tempero, Margaret] UCSF Helen Diller Family Comprehens Canc Ctr, Res Programs, San Francisco, CA 94115 USA. RP Tempero, M (reprint author), UCSF Pancreas Ctr, San Francisco, CA 94143 USA.; Tempero, M (reprint author), ASCO Board Directors, Alexandria, VA 22314 USA.; Tempero, M (reprint author), ASCO, Alexandria, VA 22314 USA.; Tempero, M (reprint author), ASCO Conquer Canc Fdn Board, Alexandria, VA 22314 USA.; Tempero, M (reprint author), NCI, Clin Oncol Study Sect, Bethesda, MD 20892 USA.; Tempero, M (reprint author), NCI, Board Sci Counselors Subcomm, Bethesda, MD 20892 USA.; Tempero, M (reprint author), Canc Prevent & Res Inst Texas, Clin & Translat Study Sect, Austin, TX 78701 USA.; Tempero, M (reprint author), FDA, Oncol Drug Advisory Comm, Silver Spring, MD 20993 USA.; Tempero, M (reprint author), UNMC, Eppley Canc Ctr, Omaha, NE 68198 USA.; Tempero, M (reprint author), UCSF, Div Med Oncol, San Francisco, CA 94143 USA.; Tempero, M (reprint author), UCSF Helen Diller Family Comprehens Canc Ctr, Res Programs, San Francisco, CA 94115 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU HARBORSIDE PRESS PI COLD SPRING HARBOR PA 37 MAIN ST, COLD SPRING HARBOR, NY 11724 USA SN 1540-1405 EI 1540-1413 J9 J NATL COMPR CANC NE JI J. Natl. Compr. Cancer Netw. PD JUL 1 PY 2016 VL 14 IS 7 BP 813 EP 813 PG 1 WC Oncology SC Oncology GA DR8VG UT WOS:000380175200001 PM 27407120 ER PT J AU Meissner, EG Kohli, A Virtaneva, K Sturdevant, D Martens, C Porcella, SF McHutchison, JG Masur, H Kottilil, S AF Meissner, E. G. Kohli, A. Virtaneva, K. Sturdevant, D. Martens, C. Porcella, S. F. McHutchison, J. G. Masur, H. Kottilil, S. TI Achieving sustained virologic response after interferon-free hepatitis C virus treatment correlates with hepatic interferon gene expression changes independent of cirrhosis SO JOURNAL OF VIRAL HEPATITIS LA English DT Article DE cirrhosis; endogenous interferons; hepatitis C virus; interferon-free therapy; treatment relapse ID GENOTYPE 1 INFECTION; THERAPEUTIC TARGET; RIBAVIRIN; SOFOSBUVIR; MICRORNAS; LIVER; BOCEPREVIR; TELAPREVIR; LEDIPASVIR; MECHANISM AB Chronic hepatitis C virus (HCV) infection can now be treated with oral directly acting antiviral agents, either with or without ribavirin (RBV). Virologic relapse after treatment can occur, and in some studies was more common in cirrhotic subjects. We previously observed changes in hepatic immunity during interferon (IFN)-free therapy that correlated with favourable outcome in subjects with early liver disease. Here, we compared changes in endogenous IFN pathways during IFN-free, RBV-free therapy between cirrhotic and noncirrhotic subjects. mRNA and microRNA (miRNA) expression analyses were performed on paired pre-and post-treatment liver biopsies from genotype-1 HCV subjects treated with sofosbuvir/ledipasvir (SOF/LDV) for 12 weeks (n = 4, 3 cirrhotics) or SOF/LDV combined with GS-9669 or GS-9451 for 6 weeks (n = 6, 0 cirrhotics). Nine of ten subjects achieved a sustained virologic response (SVR), while one noncirrhotic subject relapsed. Hepatic IFN-stimulated gene expression decreased with treatment in the liver of all subjects, with no observable impact of cirrhosis. Hepatic gene expression of type III IFNs (IFNL1, IFNL3, IFNL4-DG) similarly decreased with treatment, while IFNA2 expression, undetectable in all subjects pretreatment, was detected post-treatment in three subjects who achieved a SVR. Only the subject who relapsed had detectable IFNL4-Delta G expression in post-treatment liver. Other IFNs had no change in gene expression (IFNG, IFNB1, IFNA5) or could not be detected. Although expression of multiple hepatic miRNAs changed with treatment, many miRNAs previously implicated in HCV replication and IFN signalling had unchanged expression. In conclusion, favourable treatment outcome during IFN-free HCV therapy is associated with changes in the host IFN response regardless of cirrhosis. C1 [Meissner, E. G.] Med Univ South Carolina, Div Infect Dis, Dept Microbiol & Immunol, Charleston, SC USA. [Meissner, E. G.; Kohli, A.; Kottilil, S.] NIAID, Immunoregulat Lab, NIH, Bldg 10, Bethesda, MD 20892 USA. [Meissner, E. G.] NIH, Dept Crit Care Med, Ctr Clin, Bethesda, MD 20892 USA. [Kohli, A.; Masur, H.] Creighton Univ, Sch Med, Dept Hepatol, St Josephs Hosp & Med Ctr, Phoenix, AZ USA. [Virtaneva, K.; Sturdevant, D.; Martens, C.; Porcella, S. F.] NIAID, Genom Unit, Res Technol Sect, Rocky Mt Labs,NIH, Hamilton, MT USA. [McHutchison, J. G.] Gilead Sci Inc, 353 Lakeside Dr, Foster City, CA 94404 USA. [Kottilil, S.] Univ Maryland, Inst Human Virol, Div Clin Care & Res, Baltimore, MD 21201 USA. RP Kottilil, S (reprint author), Inst Human Virol, Room S222,725 W Lombard St, Baltimore, MD 21201 USA. EM SKottilil@ihv.umaryland.edu FU Intramural Research Programs of the National Institute of Allergy and Infectious Diseases, the Critical Care Medicine Department, and the Clinical Research Center of the National Institutes of Health FX This study was funded by the Intramural Research Programs of the National Institute of Allergy and Infectious Diseases, the Critical Care Medicine Department, and the Clinical Research Center of the National Institutes of Health. NR 50 TC 5 Z9 5 U1 1 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1352-0504 EI 1365-2893 J9 J VIRAL HEPATITIS JI J. Viral Hepatitis PD JUL PY 2016 VL 23 IS 7 BP 496 EP 505 DI 10.1111/jvh.12510 PG 10 WC Gastroenterology & Hepatology; Infectious Diseases; Virology SC Gastroenterology & Hepatology; Infectious Diseases; Virology GA DR7IF UT WOS:000380072500001 PM 26840694 ER PT J AU Bigot, P Colli, LM Machiela, MJ Jessop, L Myers, TA Carrouget, J Wagner, S Roberson, D Eymerit, C Henrion, D Chanock, SJ AF Bigot, Pierre Colli, Leandro M. Machiela, Mitchell J. Jessop, Lea Myers, Timothy A. Carrouget, Julie Wagner, Sarah Roberson, David Eymerit, Caroline Henrion, Daniel Chanock, Stephen J. TI Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41 SO NATURE COMMUNICATIONS LA English DT Article ID GENOME-WIDE ASSOCIATION; LARGE GENE LISTS; CELL CARCINOMA; KIDNEY CANCER; EXPRESSION; COMMON; INTERLEUKIN-11; METAANALYSIS; METASTASIS; RECEPTOR AB Genome-wide association studies have identified multiple renal cell carcinoma (RCC) susceptibility loci. Here, we use regional imputation and bioinformatics analysis of the 12p12.1 locus to identify the single-nucleotide polymorphism (SNP) rs7132434 as a potential functional variant. Luciferase assays demonstrate allele-specific regulatory activity and, together with data from electromobility shift assays, suggest allele-specific differences at rs7132434 for AP-1 transcription factor binding. In an analysis of The Cancer Genome Atlas data, SNPs highly correlated with rs7132434 show allele-specific differences in BHLHE41 expression (trend P value = 6.3 x 10(-7)). Cells overexpressing BHLHE41 produce larger mouse xenograft tumours, while RNA-seq analysis reveals that constitutively increased BHLHE41 induces expression of IL-11. We conclude that the RCC risk allele at 12p12.1 maps to rs7132434, a functional variant in an enhancer that upregulates BHLHE41 expression which, in turn, induces IL-11, a member of the IL-6 cytokine family. C1 [Bigot, Pierre; Colli, Leandro M.; Machiela, Mitchell J.; Jessop, Lea; Myers, Timothy A.; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, NIH, 8717 Grovemont Circle, Bethesda, MD 20892 USA. [Bigot, Pierre; Carrouget, Julie] Angers Univ Hosp, Dept Urol, 4 Rue Larrey, F-49100 Angers, France. [Wagner, Sarah; Roberson, David] Leidos Biomed Res Inc, Canc Genom Res Lab, Frederick Natl Lab Canc Res, 8717 Grovemont Circle, Bethesda, MD 20892 USA. [Eymerit, Caroline] Angers Univ Hosp, Dept Pathol, 4 Rue Larrey, F-49100 Angers, France. [Henrion, Daniel] Univ Angers, CNRS, UMR 6214, INSERM,U1083,UFR Med, Rue Haute Reculee, F-49045 Angers, France. RP Chanock, SJ (reprint author), NCI, Div Canc Epidemiol & Genet, NIH, 8717 Grovemont Circle, Bethesda, MD 20892 USA. EM chanocks@mail.nih.gov OI Henrion, Daniel/0000-0003-1094-0285; Machiela, Mitchell/0000-0001-6538-9705 FU NIH intramural research program; Association Francaise d'Urologie FX This work is supported by the NIH intramural research program. P.B. was partially funded by the Association Francaise d'Urologie. We thank S. Piccolo and M. Montagner for their generous gift of BHLHE41 rabbit polyclonal antibody. NR 52 TC 2 Z9 2 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 12098 DI 10.1038/ncomms12098 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DS0QX UT WOS:000380302900001 PM 27384883 ER PT J AU Hanzelmann, D Joo, HS Franz-Wachtel, M Hertlein, T Stevanovic, S Macek, B Wolz, C Gotz, F Otto, M Kretschmer, D Peschel, A AF Hanzelmann, Dennis Joo, Hwang-Soo Franz-Wachtel, Mirita Hertlein, Tobias Stevanovic, Stefan Macek, Boris Wolz, Christiane Goetz, Friedrich Otto, Michael Kretschmer, Dorothee Peschel, Andreas TI Toll-like receptor 2 activation depends on lipopeptide shedding by bacterial surfactants SO NATURE COMMUNICATIONS LA English DT Article ID RESISTANT STAPHYLOCOCCUS-AUREUS; SUPERANTIGEN-LIKE PROTEIN-3; COMMUNITY-ASSOCIATED MRSA; INNATE IMMUNITY; CUTTING EDGE; IN-VIVO; LIPOPROTEINS; VIRULENCE; TLR2; IDENTIFICATION AB Sepsis caused by Gram-positive bacterial pathogens is a major fatal disease but its molecular basis remains elusive. Toll-like receptor 2 (TLR2) has been implicated in the orchestration of inflammation and sepsis but its role appears to vary for different pathogen species and clones. Accordingly, Staphylococcus aureus clinical isolates differ substantially in their capacity to activate TLR2. Here we show that strong TLR2 stimulation depends on high-level production of phenol-soluble modulin (PSM) peptides in response to the global virulence activator Agr. PSMs are required for mobilizing lipoproteins, the TLR2 agonists, from the staphylococcal cytoplasmic membrane. Notably, the course of sepsis caused by PSM-deficient S. aureus is similar in wild-type and TLR2-deficient mice, but TLR2 is required for protection of mice against PSM-producing S. aureus. Thus, a crucial role of TLR2 depends on agonist release by bacterial surfactants. Modulation of this process may lead to new therapeutic strategies against Gram-positive infections. C1 [Hanzelmann, Dennis; Kretschmer, Dorothee; Peschel, Andreas] Univ Tubingen, Interfac Inst Microbiol & Infect Med Tubingen IMI, Dept Infect Biol, Morgenstelle 28, D-72076 Tubingen, Germany. [Joo, Hwang-Soo; Otto, Michael] NIAID, Pathogen Mol Genet Sect, Bacteriol Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Franz-Wachtel, Mirita; Macek, Boris] Univ Tubingen, Proteome Ctr Tubingen, Interfac Inst Cell Biol, Morgenstelle 15, D-72076 Tubingen, Germany. [Hertlein, Tobias] Univ Wurzburg, Inst Mol Infect Biol, Josef Schneider Str 2, D-97080 Wurzburg, Germany. [Stevanovic, Stefan] Univ Tubingen, Interfac Inst Cell Biol, Dept Immunol, Morgenstelle 15, D-72076 Tubingen, Germany. [Wolz, Christiane] Univ Tubingen, Dept Med Microbiol & Hyg, Interfaculty Inst Microbiol & Infect Med Tubingen, Elfriede Aulhorn Str 5, D-72076 Tubingen, Germany. [Goetz, Friedrich] Univ Tubingen, Dept Microbial Genet, Interfaculty Inst Microbiol & Infect Med Tubingen, Morgenstelle 28, D-72076 Tubingen, Germany. [Kretschmer, Dorothee; Peschel, Andreas] Univ Tubingen, German Ctr Infect Res, Morgenstelle 28, D-72076 Tubingen, Germany. RP Kretschmer, D (reprint author), Univ Tubingen, Interfac Inst Microbiol & Infect Med Tubingen IMI, Dept Infect Biol, Morgenstelle 28, D-72076 Tubingen, Germany.; Kretschmer, D (reprint author), Univ Tubingen, German Ctr Infect Res, Morgenstelle 28, D-72076 Tubingen, Germany. EM dorothee.kretschmer@uni-tuebingen.de RI Macek, Boris/N-1442-2015 FU German Research Council [SFB685, SFB766, TRR34, PE805/5-1]; Fortune Program of the Medical Faculty, University of Tubingen; German Center for Infectious Diseases Research (DZIF); Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health FX We thank Nele Nikola, Cordula Gekeler, Irina Droste-Borel, Silke Wahl and Johannes Madlung for technical support, and Ji Ming Wang for providing C57BL/6 FPR2 - / - mice. This study was supported by grants from the German Research Council SFB685 to S.S. and A.P, SFB766 to B.M., C.W., F.G., and A.P, TRR34 to C.W., F.G., D.K., and A.P., and PE805/5-1, to A.P.; by the Fortune Program of the Medical Faculty, University of Tubingen (to D.K.), the German Center for Infectious Diseases Research (DZIF) to D.K. and A.P.; and the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health (to M.O.) NR 51 TC 2 Z9 2 U1 0 U2 4 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 12304 DI 10.1038/ncomms12304 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DS2DK UT WOS:000380537400001 PM 27470911 ER PT J AU Jacoby, E Nguyen, SM Fountaine, TJ Welp, K Gryder, B Qin, HY Yang, YM Chien, CD Seif, AE Lei, HY Song, YK Khan, J Lee, DW Mackall, CL Gardner, RA Jensen, MC Shern, JF Fry, TJ AF Jacoby, Elad Nguyen, Sang M. Fountaine, Thomas J. Welp, Kathryn Gryder, Berkley Qin, Haiying Yang, Yinmeng Chien, Christopher D. Seif, Alix E. Lei, Haiyan Song, Young K. Khan, Javed Lee, Daniel W. Mackall, Crystal L. Gardner, Rebecca A. Jensen, Michael C. Shern, Jack F. Fry, Terry J. TI CD19 CAR immune pressure induces B-precursor acute lymphoblastic leukaemia lineage switch exposing inherent leukaemic plasticity SO NATURE COMMUNICATIONS LA English DT Article ID CHIMERIC ANTIGEN RECEPTOR; ACUTE MYELOCYTIC-LEUKEMIA; ACUTE MYELOID-LEUKEMIA; MU-RET MOUSE; T-CELLS; CHILDHOOD LEUKEMIA; PAX5; TRANSCRIPTION; COMMITMENT; THERAPY AB Adoptive immunotherapy using chimeric antigen receptor (CAR) expressing T cells targeting the CD19 B lineage receptor has demonstrated marked success in relapsed pre-B-cell acute lymphoblastic leukaemia (ALL). Persisting CAR-T cells generate sustained pressure against CD19 that may drive unique mechanisms of resistance. Pre-B ALL originates from a committed pre-B cell or an earlier progenitor, with potential to reprogram into other hematopoietic lineages. Here we report changes in lineage markers including myeloid conversion in patients following CD19 CAR therapy. Using murine ALL models we study the long-term effects of CD19 CAR-T cells and demonstrate partial or complete lineage switch as a consistent mechanism of CAR resistance depending on the underlying genetic oncogenic driver. Deletion of Pax5 or Ebf1 recapitulates lineage reprogramming occurring during CD19 CAR pressure. Our findings establish lineage switch as a mechanism of CAR resistance exposing inherent plasticity in genetic subtypes of pre-B-cell ALL. C1 [Jacoby, Elad; Nguyen, Sang M.; Fountaine, Thomas J.; Welp, Kathryn; Qin, Haiying; Yang, Yinmeng; Chien, Christopher D.; Lei, Haiyan; Lee, Daniel W.; Mackall, Crystal L.; Shern, Jack F.; Fry, Terry J.] NCI, Pediat Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Gryder, Berkley; Song, Young K.; Khan, Javed] NCI, Genet Branch, NIH, Bethesda, MD 20892 USA. [Seif, Alix E.] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA. [Seif, Alix E.] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA. [Gardner, Rebecca A.; Jensen, Michael C.] Univ Washington, Ben Towne Ctr Childhood Canc Res, Seattle Childrens Hosp, Seattle, WA 98105 USA. [Gardner, Rebecca A.; Jensen, Michael C.] Univ Washington, Dept Pediat, Seattle, WA 98105 USA. [Jacoby, Elad] Tel Aviv Univ, Dept Pediat Hematol & Oncol, Edmond & Lily Safras Childrens Hosp, Sheba Med Ctr, IL-69978 Tel Aviv, Israel. [Jacoby, Elad] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel. RP Fry, TJ (reprint author), NCI, Pediat Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM fryt@mail.nih.gov RI Khan, Javed/P-9157-2014 OI Khan, Javed/0000-0002-5858-0488 FU NIH intramural program FX The authors thank Peter Aplan and Liat Goldberg for their fruitful discussions and comments during this work. This study was funded by the NIH intramural program. NR 62 TC 7 Z9 8 U1 4 U2 7 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 12320 DI 10.1038/ncomms12320 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DS2DO UT WOS:000380538200001 PM 27460500 ER PT J AU Lindert, U Cabral, WA Ausavarat, S Tongkobpetch, S Ludin, K Barnes, AM Yeetong, P Weis, M Krabichler, B Srichomthong, C Makareeva, EN Janecke, AR Leikin, S Rothlisberger, B Rohrbach, M Kennerknecht, I Eyre, DR Suphapeetiporn, K Giunta, C Marini, JC Shotelersuk, V AF Lindert, Uschi Cabral, Wayne A. Ausavarat, Surasawadee Tongkobpetch, Siraprapa Ludin, Katja Barnes, Aileen M. Yeetong, Patra Weis, Maryann Krabichler, Birgit Srichomthong, Chalurmpon Makareeva, Elena N. Janecke, Andreas R. Leikin, Sergey Rothlisberger, Benno Rohrbach, Marianne Kennerknecht, Ingo Eyre, David R. Suphapeetiporn, Kanya Giunta, Cecilia Marini, Joan C. Shotelersuk, Vorasuk TI MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta SO NATURE COMMUNICATIONS LA English DT Article ID ENDOPLASMIC-RETICULUM STRESS; TRANSCRIPTION FACTORS; EXTRACELLULAR-MATRIX; MISSENSE MUTATIONS; SITE-1 PROTEASE; BONE-FORMATION; IFAP SYNDROME; COLLAGEN; OASIS; CLEAVAGE AB Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conserved S2P residues. Mutant S2P has normal stability, but impaired functioning in regulated intramembrane proteolysis (RIP) of OASIS, ATF6 and SREBP transcription factors, consistent with decreased proband secretion of type I collagen. Further, hydroxylation of the collagen lysine residue (K87) critical for crosslinking is reduced in proband bone tissue, consistent with decreased lysyl hydroxylase 1 in proband osteoblasts. Reduced collagen crosslinks presumptively undermine bone strength. Also, proband osteoblasts have broadly defective differentiation. These mutations provide evidence that RIP plays a fundamental role in normal bone development. C1 [Lindert, Uschi; Rohrbach, Marianne; Giunta, Cecilia] Univ Childrens Hosp Zurich, Div Metab, Connect Tissue Unit, CH-8032 Zurich, Switzerland. [Lindert, Uschi; Rohrbach, Marianne; Giunta, Cecilia] Univ Childrens Hosp Zurich, Childrens Res Ctr, CH-8032 Zurich, Switzerland. [Cabral, Wayne A.; Barnes, Aileen M.; Marini, Joan C.] NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA. [Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Yeetong, Patra; Srichomthong, Chalurmpon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk] Chulalongkorn Univ, Fac Med, Ctr Excellence Med Genet, Dept Pediat, Bangkok 10330, Thailand. [Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Yeetong, Patra; Srichomthong, Chalurmpon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk] Thai Red Cross Soc, King Chulalongkorn Mem Hosp, Excellence Ctr Med Genet, Bangkok 10330, Thailand. [Ludin, Katja; Rothlisberger, Benno] Kantonsspital Aarau, Dept Med Genet, Ctr Lab Med, CH-5001 Aarau, Switzerland. [Weis, Maryann; Eyre, David R.] Univ Washington, Dept Orthoped & Sports Med, Seattle, WA 98195 USA. [Krabichler, Birgit; Janecke, Andreas R.] Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria. [Makareeva, Elena N.; Leikin, Sergey] NICHHD, Sect Phys Biochem, NIH, Bethesda, MD 20892 USA. [Janecke, Andreas R.] Med Univ Innsbruck, Dept Pediat 1, A-6020 Innsbruck, Austria. [Kennerknecht, Ingo] Univ Munster, Inst Human Genet, D-48149 Munster, Germany. [Ausavarat, Surasawadee] Mahidol Univ, Siriraj Hosp, Fac Med, Dept Radiol,Div Nucl Med, Bangkok 10700, Thailand. [Yeetong, Patra] Chulalongkorn Univ, Fac Sci, Dept Bot, Div Human Genet, Bangkok 10330, Thailand. RP Marini, JC (reprint author), NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA. EM oidoc@helix.nih.gov RI Leikin, Sergey/A-5518-2008; OI Leikin, Sergey/0000-0001-7095-0739; Giunta, Cecilia/0000-0002-9313-8257; Rohrbach, Marianne/0000-0002-4013-6012 FU Thailand Research Fund [RTA56800003, TRG5480013]; Chulalongkorn Academic Advancement; Swiss National Research Foundation (SNF Grant) [310030_138288]; NIH [AR037318, HD070394]; NICHD Intramural Funds FX We thank the patients and their families for participating in this study and supporting our work. Osteoblast cultures were kindly established by Professor Thomas Braulke, University Medical Center Hamburg-Eppendorf, Children's Hospital, Hamburg, Germany. CHO-M19, EYFP-MBTPS2, pSRE-GL4.23 and pRL-SV40 constructs were kindly provided by Professor Karl-Heinz Grzeschik, Department of Human Genetics, Philipps-Universitat, Marburg, Germany. IFAP fibroblast cultures were generously provided by Dr Cynthia J. Tifft, Pediatric Undiagnosed Diseases Program, NHGRI, NIH. KFSD fibroblast cultures were kindly provided by Dr Emmelien Aten, Department of Human and Clinical Genetics, LUMC, Leiden, The Netherlands. The p5xATF6-GL3 was kindly provided by Ron Prywes of Department of Biological Sciences, Columbia University, New York, USA. We thank Angelika Schwarze and Anke Jeschke for expert technical assistance, and Professor Marius Kraenzlin for urinary pyridinoline measurement. This study was supported by the Thailand Research Fund (RTA56800003 and TRG5480013) and the Chulalongkorn Academic Advancement into its 2nd century project to V.S., by the Swiss National Research Foundation (SNF Grant No. 310030_138288) to C.G. and M.R., by NIH grants AR037318 (NIAMS) and HD070394 (NICHD) to D.R.E., and by NICHD Intramural Funds to J.C.M. and S.L. The illustration in Fig. 6c was generated by Yumiko Shepherd, Unit of Computer Support Services, NICHD. NR 37 TC 3 Z9 3 U1 2 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 11920 DI 10.1038/ncomms11920 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DS0MR UT WOS:000380291600001 PM 27380894 ER PT J AU Rhee, EP Yang, Q Yu, B Liu, X Cheng, S Deik, A Pierce, KA Bullock, K Ho, JE Levy, D Florez, JC Kathiresan, S Larson, MG Vasan, RS Clish, CB Wang, TJ Boerwinkle, E O'Donnell, CJ Gerszten, RE AF Rhee, Eugene P. Yang, Qiong Yu, Bing Liu, Xuan Cheng, Susan Deik, Amy Pierce, Kerry A. Bullock, Kevin Ho, Jennifer E. Levy, Daniel Florez, Jose C. Kathiresan, Sek Larson, Martin G. Vasan, Ramachandran S. Clish, Clary B. Wang, Thomas J. Boerwinkle, Eric O'Donnell, Christopher J. Gerszten, Robert E. TI An exome array study of the plasma metabolome SO NATURE COMMUNICATIONS LA English DT Article ID GENOME-WIDE ASSOCIATION; CORONARY-HEART-DISEASE; VARIANTS; CYSTATHIONINURIA; IDENTIFICATION; HERITABILITY; MUTATIONS; PROFILES; FAMILIES; RISK AB The study of rare variants may enhance our understanding of the genetic determinants of the metabolome. Here, we analyze the association between 217 plasma metabolites and exome variants on the Illumina HumanExome Beadchip in 2,076 participants in the Framingham Heart Study, with replication in 1,528 participants of the Atherosclerosis Risk in Communities Study. We identify an association between GMPS and xanthosine using single variant analysis and associations between HAL and histidine, PAH and phenylalanine, and UPB1 and ureidopropionate using gene-based tests (P < 5 x 10(-8) in meta-analysis), highlighting novel coding variants that may underlie inborn errors of metabolism. Further, we show how an examination of variants across the spectrum of allele frequency highlights independent association signals at select loci and generates a more integrated view of metabolite heritability. These studies build on prior metabolomics genome wide association studies to provide a more complete picture of the genetic architecture of the plasma metabolome. C1 [Rhee, Eugene P.] Massachusetts Gen Hosp, Div Nephrol, 55 Fruit St, Boston, MA 02114 USA. [Rhee, Eugene P.] Massachusetts Gen Hosp, Div Endocrinol, 55 Fruit St, Boston, MA 02114 USA. [Rhee, Eugene P.; Deik, Amy; Pierce, Kerry A.; Bullock, Kevin; Clish, Clary B.] Broad Inst MIT & Harvard, Metabolite Profiling, 415 Main St, Cambridge, MA 02142 USA. [Yang, Qiong; Liu, Xuan; Larson, Martin G.] Boston Univ, Sch Publ Hlth, Dept Biostat, 801 Massachusetts Ave, Boston, MA 02118 USA. [Yu, Bing; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, 1200 Pressler St, Houston, TX 77030 USA. [Cheng, Susan; Levy, Daniel; Larson, Martin G.; Vasan, Ramachandran S.; O'Donnell, Christopher J.] NHLBI, Framingham Heart Study, 73 Mt Wayte Ave, Framingham, MA 01702 USA. [Cheng, Susan] Brigham & Womens Hosp, Div Cardiovasc Med, 75 Francis St, Boston, MA 02115 USA. [Ho, Jennifer E.] Massachusetts Gen Hosp, Div Cardiol, 55 Fruit St, Boston, MA 02114 USA. [Levy, Daniel] NHLBI, Populat Sci Branch, Bethesda, MD 20892 USA. [Florez, Jose C.] Massachusetts Gen Hosp, Diabet Res Ctr, 55 Fruit St, Boston, MA 02114 USA. [Florez, Jose C.; Kathiresan, Sek] Massachusetts Gen Hosp, Ctr Human Genet Res, 185 Cambridge St, Boston, MA 02114 USA. [Florez, Jose C.; Kathiresan, Sek] Broad Inst MIT & Harvard, Program Med & Populat Genet, 415 Main St, Boston, MA 02114 USA. [Kathiresan, Sek] Massachusetts Gen Hosp, Cardiovasc Res Ctr, 185 Cambridge St, Boston, MA 02114 USA. [Larson, Martin G.] Boston Univ, Dept Math & Stat, 111 Cummington Mall, Boston, MA 02215 USA. [Vasan, Ramachandran S.] Boston Univ, Sch Med, Prevent Med & Epidemiol, 801 Massachusetts Ave, Boston, MA 02118 USA. [Wang, Thomas J.] Vanderbilt Univ, Med Ctr, Div Cardiovasc Med, 1211 Med Ctr Dr, Nashville, TN 37232 USA. [Wang, Thomas J.] Vanderbilt Heart & Vasc Inst, 1211 Med Ctr Dr, Nashville, TN 37232 USA. [Boerwinkle, Eric] Baylor Coll Med, Human Genome Sequencing Ctr, 1 Baylor Plaza, Houston, TX 77030 USA. [O'Donnell, Christopher J.] Boston Vet Adm Healthcare, Cardiol Sect, 1400 VFW Pkwy, Boston, MA 02132 USA. [Gerszten, Robert E.] Beth Israel Deaconess Med Ctr, Div Cardiovasc Med, 185 Pilgrim Rd, Boston, MA 02215 USA. RP Rhee, EP (reprint author), Massachusetts Gen Hosp, Div Nephrol, 55 Fruit St, Boston, MA 02114 USA.; Rhee, EP (reprint author), Massachusetts Gen Hosp, Div Endocrinol, 55 Fruit St, Boston, MA 02114 USA.; Rhee, EP (reprint author), Broad Inst MIT & Harvard, Metabolite Profiling, 415 Main St, Cambridge, MA 02142 USA.; Gerszten, RE (reprint author), Beth Israel Deaconess Med Ctr, Div Cardiovasc Med, 185 Pilgrim Rd, Boston, MA 02215 USA. EM eprhee@partners.org; rgerszte@bidmc.harvard.edu OI Ramachandran, Vasan/0000-0001-7357-5970 FU NIH [N01-HC-25195, R01-DK-HL-081572, R01-DK-108159, R01-HL-098280, R-01-HL-093328, K08-DK-090142]; Division of Intramural Research of the National Heart, Lung and Blood Institute; National Heart, Lung and Blood Institute (NHLBI) [HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, HHSN268201100012C]; NIH through the American Recovery and Reinvestment Act (ARRA) [5RC2HL102419]; National Genome Research Institute [HG004402] FX This work was supported by NIH contracts N01-HC-25195, R01-DK-HL-081572, R01-DK-108159 (R.E.G. and T.J.W.), R01-HL-098280 (R.E.G.), R-01-HL-093328 (R.S.V.) and K08-DK-090142 (E.P.R.); funding for the exome array genotyping in the Framingham Heart Study was provided by the Division of Intramural Research of the National Heart, Lung and Blood Institute (D.L., C.J.O.). The Atherosclerosis Risk in Communities (ARIC) study is carried out as a collaborative study supported by the National Heart, Lung and Blood Institute (NHLBI) contracts (HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C and HHSN268201100012C). Funding support for 'Building on GWAS for NHLBI-diseases: the US CHARGE consortium' was provided by the NIH through the American Recovery and Reinvestment Act of 2009 (ARRA) (5RC2HL102419). Metabolomic profiling in ARIC was supported by the National Genome Research Institute (HG004402). We thank the staff and participants of the FHS and ARIC study for their important contributions. NR 31 TC 4 Z9 4 U1 3 U2 7 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD JUL PY 2016 VL 7 AR 12360 DI 10.1038/ncomms12360 PG 7 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DR9GD UT WOS:000380204200001 PM 27453504 ER PT J AU Heart, MYHB Lewis-Fernandez, R Beals, J Hasin, DS Sugaya, L Wang, S Grant, BF Blanco, C AF Heart, Maria Yellow Horse Brave Lewis-Fernandez, Roberto Beals, Janette Hasin, Deborah S. Sugaya, Luisa Wang, Shuai Grant, Bridget F. Blanco, Carlos TI Psychiatric disorders and mental health treatment in American Indians and Alaska Natives: results of the National Epidemiologic Survey on Alcohol and Related Conditions SO SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY LA English DT Article DE Psychiatric epidemiology; American Indian or Alaska Native; Non-Hispanic whites; DSM-IV disorders; Treatment-seeking ID POSTTRAUMATIC-STRESS-DISORDER; INTERVIEW SCHEDULE AUDADIS; GENERAL-POPULATION SAMPLE; SUBSTANCE USE DISORDERS; RESERVATION POPULATIONS; UNITED-STATES; DRUG-USE; CULTURAL FORMULATION; DIAGNOSTIC MODULES; HELP-SEEKING AB To examine the prevalence of common psychiatric disorders and associated treatment-seeking, stratified by gender, among American Indians/Alaska Natives and non-Hispanic whites in the United States. Lifetime and 12-month rates are estimated, both unadjusted and adjusted for sociodemographic correlates. Analyses were conducted with the American Indians/Alaska Native (n = 701) and Non-Hispanic white (n = 24,507) samples in the 2001-2002 National Epidemiologic Survey on Alcohol and Related Conditions [(NESARC) n = 43,093]. Overall, 70 % of the American Indian/Alaska Native men and 63 % of the women met criteria for at least one Diagnostic and Statistical Manual-IV lifetime disorder, compared to 62 and 53 % of Non-Hispanic white men and women, respectively. Adjusting for sociodemographic correlates attenuated the differences found. Nearly half of American Indians/Alaska Natives had a psychiatric disorder in the previous year; again, sociodemographic adjustments explained some of the differences found. Overall, the comparisons to non-Hispanic whites showed differences were more common among American Indian/Alaska Native women than men. Among those with a disorder, American Indian/Alaska Native women had greater odds of treatment-seeking for 12-month anxiety disorders. As the first study to provide national estimates, by gender, of the prevalence and treatment of a broad range of psychiatric disorders among American Indians/Alaska Natives, a pattern of higher prevalence of psychiatric disorder was found relative to Non-Hispanic whites. Such differences were more common among women than men. Prevalence may be overestimated due to cultural limitations in measurement. Unmeasured risk factors, some specific to American Indians/Alaska Natives, may also partially explain these results. C1 [Heart, Maria Yellow Horse Brave] Univ New Mexico, Div Community Behav Hlth, Dept Psychiat & Behav Sci, MSC09 5030,1 UNM, Albuquerque, NM 87131 USA. [Heart, Maria Yellow Horse Brave; Lewis-Fernandez, Roberto; Hasin, Deborah S.; Sugaya, Luisa; Wang, Shuai; Blanco, Carlos] New York State Psychiat Inst & Hosp, New York, NY 10032 USA. [Lewis-Fernandez, Roberto; Hasin, Deborah S.] Columbia Univ Coll Phys & Surg, Dept Psychiat, 722 W 168th St, New York, NY 10032 USA. [Beals, Janette] Univ Colorado, Colorado Sch Publ Hlth, Anschutz Med Campus, Aurora, CO USA. [Hasin, Deborah S.] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA. [Sugaya, Luisa] Univ Sao Paulo, Sch Med, Sao Paulo, Brazil. [Grant, Bridget F.] NIAAA, Bethesda, MD USA. [Blanco, Carlos] NIDA, Bethesda, MD 20892 USA. RP Heart, MYHB (reprint author), Univ New Mexico, Div Community Behav Hlth, Dept Psychiat & Behav Sci, MSC09 5030,1 UNM, Albuquerque, NM 87131 USA.; Heart, MYHB (reprint author), New York State Psychiat Inst & Hosp, New York, NY 10032 USA. EM MBraveHeart@salud.unm.edu FU National Institute on Alcohol Abuse and Alcoholism; Intramural Program, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health; National Institutes of Health [MH076051, MH082773, AA08159, AA018111, AA00161, MD000507, P20 MD004811]; New York State Psychiatric Institute; New York State Center of Excellence for Cultural Competence FX The National Epidemiologic Survey on Alcohol and Related Conditions was sponsored by the National Institute on Alcohol Abuse and Alcoholism and funded, in part, by the Intramural Program, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health. This study is supported by National Institutes of Health grants MH076051 and MH082773 (Dr. Blanco), AA08159, AA018111 and AA00161 (Dr. Hasin), MD000507 (Dr. Beals), and P20 MD004811 (Dr. Brave Heart); the New York State Psychiatric Institute (Drs. Hasin and Lewis-Fernandez), and the New York State Center of Excellence for Cultural Competence (Drs. Brave Heart and Lewis-Fernandez). NR 70 TC 1 Z9 1 U1 2 U2 5 PU SPRINGER HEIDELBERG PI HEIDELBERG PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY SN 0933-7954 EI 1433-9285 J9 SOC PSYCH PSYCH EPID JI Soc. Psychiatry Psychiatr. Epidemiol. PD JUL PY 2016 VL 51 IS 7 BP 1033 EP 1046 DI 10.1007/s00127-016-1225-4 PG 14 WC Psychiatry SC Psychiatry GA DR7OF UT WOS:000380088900013 ER PT J AU Biffi, R Bertoglio, S Pittiruti, M AF Biffi, R. Bertoglio, S. Pittiruti, M. CA GAVeCeLT Italian Study Grp Long T TI Insertion of central venous catheters (CVCs): any changes in the past 10 years? SO ANNALS OF ONCOLOGY LA English DT Letter ID TRIAL AB Use of central venous access devices is of paramount importance in oncology. Clinical pratice guidelines may change rapidly, and updates are necessary. C1 [Biffi, R.] European Inst Oncol, Dept Gastrointestinal Surg, Milan, Italy. [Bertoglio, S.] Univ Genoa, Dept Surg Sci, Genoa, Italy. [Bertoglio, S.] Natl Canc Inst, Genoa, Italy. [Pittiruti, M.] Catholic Univ Hosp, Dept Surg, Rome, Italy. RP Biffi, R (reprint author), European Inst Oncol, Dept Gastrointestinal Surg, Milan, Italy. EM roberto.biffi@ieo.it NR 5 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0923-7534 EI 1569-8041 J9 ANN ONCOL JI Ann. Oncol. PD JUL PY 2016 VL 27 IS 7 BP 1351 EP 1351 DI 10.1093/annonc/mdw127 PG 1 WC Oncology SC Oncology GA DR2UZ UT WOS:000379760700025 ER PT J AU Gabriel, EE Follmann, D AF Gabriel, Erin E. Follmann, Dean TI Augmented trial designs for evaluation of principal surrogates SO BIOSTATISTICS LA English DT Article DE Augmented trial design; Causal inference; Counterfactual responses; Principal surrogates ID DRUG-RESISTANT TUBERCULOSIS; END-POINTS; VACCINE TRIALS; CAUSAL INFERENCE; STRATIFICATION; BIOMARKERS; PROTECTION; CORRELATE; EFFICACY AB Observation of counterfactual intermediate responses, and evaluation of them as candidate surrogates, is complicated in a standard randomized trial as half of the responses are systematically missing by design. Although some augmentation procedures exist for obtaining counterfactual responses, they are specific to vaccine trials. We outline extensions to the existing augmentations and suggest augmentations of three trial designs outside the setting of vaccines. We outline the assumptions needed to identify the causal estimands of interest under each augmented design, under which standard likelihood-based methods can be used to evaluate intermediate responses as principal surrogates. Two of these designs, crossover and individual stepped-wedge, allow for the observation of clinical endpoints under both treatment and control for some subset of subjects and can therefore improve efficiency over standard parallel trial designs. The third, the treatment run-in design, allows for the observation of a baseline measure that may be as useful a surrogate as the true counterfactual intermediate response. As the evaluation methods rely on several assumptions, we also outline a remediation analysis, which can be used to help overcome assumption violations. We illustrate our suggested methods in an example from a drug-resistant tuberculosis treatment trial. C1 [Gabriel, Erin E.; Follmann, Dean] NIAID, Biostat Res Branch, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Gabriel, EE (reprint author), NIAID, Biostat Res Branch, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM erin.gabriel@nih.gov OI Gabriel, Erin/0000-0002-0504-8404 NR 21 TC 0 Z9 0 U1 2 U2 3 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1465-4644 EI 1468-4357 J9 BIOSTATISTICS JI Biostatistics PD JUL PY 2016 VL 17 IS 3 BP 453 EP 467 DI 10.1093/biostatistics/kxv055 PG 15 WC Mathematical & Computational Biology; Statistics & Probability SC Mathematical & Computational Biology; Mathematics GA DR2VM UT WOS:000379762000004 PM 26825099 ER PT J AU Ang, R Abramowitz, J Birnbaumer, L Gourine, AV Tinker, A AF Ang, R. Abramowitz, J. Birnbaumer, L. Gourine, A. V. Tinker, A. TI Loss of the inhibitory GalphaO protein in the rostral ventrolateral medulla of the brainstem leads to abnormalities in cardiovascular reflexes and altered ventricular excitablitiy SO CARDIOVASCULAR RESEARCH LA English DT Meeting Abstract CT Frontiers in CardioVascular Biology Meeting (FCVB) CY JUL 08-10, 2016 CL Florence, ITALY C1 [Ang, R.] UCL, Ctr Clin Pharmacol, London, England. [Abramowitz, J.; Birnbaumer, L.] NIEHS, Div Intramural Res, POB 12233, Res Triangle Pk, NC 27709 USA. [Gourine, A. V.] UCL, London, England. [Tinker, A.] Barts & London Queen Marys Sch Med & Dent, London, England. NR 0 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0008-6363 EI 1755-3245 J9 CARDIOVASC RES JI Cardiovasc. Res. PD JUL 1 PY 2016 VL 111 SU 1 MA 546 BP S98 EP S98 PG 1 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DR3OM UT WOS:000379812500351 ER PT J AU Chaloupka, A Rowe, GC Johnson, K Arany, ZP Del Monte, F AF Chaloupka, A. Rowe, G. C. Johnson, K. Arany, Z. P. Del Monte, F. TI Human transcriptome in idiopathic dilated cardiomyopathy - a novel high throughput screening SO CARDIOVASCULAR RESEARCH LA English DT Meeting Abstract CT Frontiers in CardioVascular Biology Meeting (FCVB) CY JUL 08-10, 2016 CL Florence, ITALY C1 [Chaloupka, A.] St Annes Univ Hosp, Dept Internal Med 1, Brno, Czech Republic. [Rowe, G. C.] Univ Alabama Birmingham, Dept Med, Div Cardiovasc Dis, Birmingham, AL 35294 USA. [Johnson, K.] NIH, Bioinformat Sect, Bldg 10, Bethesda, MD 20892 USA. [Arany, Z. P.] Univ Penn, Penn Cardiovasc Inst, Smilow Ctr Translat Res, Philadelphia, PA 19104 USA. [Del Monte, F.] Beth Israel Deaconess Med Ctr, CardioVasc Inst, Boston, MA 02215 USA. NR 0 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0008-6363 EI 1755-3245 J9 CARDIOVASC RES JI Cardiovasc. Res. PD JUL 1 PY 2016 VL 111 SU 1 MA 526 BP S95 EP S95 PG 1 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DR3OM UT WOS:000379812500337 ER PT J AU Lewis, BA Burlingame, AL Myers, SA AF Lewis, Brian A. Burlingame, Alma L. Myers, Samuel A. TI Human RNA Polymerase II Promoter Recruitment in Vitro Is Regulated by O-Linked N-Acetylglucosaminyltransferase (OGT) SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article DE gene regulation; O-GlcNAcylation; O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT); RNA polymerase II; transcription ID TERMINAL DOMAIN; GLCNAC; TRANSCRIPTION; PHOSPHORYLATION; METABOLISM; PROTEIN AB Although the O-linked N-acetylglucosamine (O-GlcNAc) modification of the RNA polymerase II C-terminal domain was described 20 years ago, the function of this RNA polymerase II (pol II) species is not known. We show here that an O-GlcNAcylated pol II species (pol II) exists on promoters in vitro. Inhibition of O-GlcNAc-transferase activity and O-GlcNAcylation prevents pol II entry into the promoter, and O-GlcNAc removal from pol II is an ATP-dependent step during initiation. These data indicate that O-GlcNAc-transferase activity is essential for RNA pol II promoter recruitment and that pol II goes through a cycling of O-GlcNAcylation at the promoter. Mass spectrometry shows that serine residues 2 and 5 of the pol II C-terminal domain are O-GlcNAcylated, suggesting an overlap with the transcription factor IIH (TFIIH)-dependent serine 5 phosphorylation events during initiation and P-TEFb (positive transcriptional elongation factor b) events during elongation. These data provide unexpected and important insights into the role of a previously ill-defined species of RNA polymerase II in regulating transcription. C1 [Lewis, Brian A.] NCI, Transcript Regulat & Biochem Unit, Metab Branch, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. [Burlingame, Alma L.; Myers, Samuel A.] Univ Calif San Francisco, Dept Pharmaceut Chem, San Francisco, CA 94158 USA. RP Lewis, BA (reprint author), NCI, Transcript Regulat & Biochem Unit, Metab Branch, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. EM lewisbri@mail.nih.gov FU NCI Intramural Program; Biomedical Technology Research Centers Program of the National Institutes of Health NIGMS; National Institutes of Health NIGMS [8P41GM103481] FX This work was supported by the NCI Intramural Program (to B. A. L.) and by the Biomedical Technology Research Centers Program of the National Institutes of Health NIGMS, National Institutes of Health NIGMS Grant 8P41GM103481, and Howard Hughes Medical Institute (to S. A. M. and A. L. B.). The authors have no conflicts of interest to declare. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 23 TC 1 Z9 1 U1 1 U2 1 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD JUL 1 PY 2016 VL 291 IS 27 BP 14056 EP 14061 DI 10.1074/jbc.M115.684365 PG 6 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR5XG UT WOS:000379975100014 PM 27129214 ER PT J AU Khan, I Crouch, JD Bharti, SK Sommers, JA Carney, SM Yakubovskaya, E Garcia-Diaz, M Trakselis, MA Brosh, RM AF Khan, Irfan Crouch, Jack D. Bharti, Sanjay Kumar Sommers, Joshua A. Carney, Sean M. Yakubovskaya, Elena Garcia-Diaz, Miguel Trakselis, Michael A. Brosh, Robert M., Jr. TI Biochemical Characterization of the Human Mitochondrial Replicative Twinkle Helicase: SUBSTRATE SPECIFICITY, DNA BRANCH MIGRATION, AND ABILITY TO OVERCOME BLOCKADES TO DNA UNWINDING SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article DE DNA helicase; DNA repair; DNA replication; genetic disease; mitochondria; Twinkle; branch migration; helicase ID SINGLE-MOLECULE FRET; DUPLEX DNA; TRANSCRIPTION INITIATION; DELETION BREAKPOINTS; HUMAN-DISEASE; PROTEIN-A; COMPLEX; BINDING; STRAND; MTDNA AB Mutations in the c10orf2 gene encoding the human mitochondrial DNA replicative helicase Twinkle are linked to several rare genetic diseases characterized by mitochondrial defects. In this study, we have examined the catalytic activity of Twinkle helicase on model replication fork and DNA repair structures. Although Twinkle behaves as a traditional 5 to 3 helicase on conventional forked duplex substrates, the enzyme efficiently dissociates D-loop DNA substrates irrespective of whether it possesses a 5 or 3 single-stranded tailed invading strand. In contrast, we report for the first time that Twinkle branch-migrates an open-ended mobile three-stranded DNA structure with a strong 5 to 3 directionality preference. To determine how well Twinkle handles potential roadblocks to mtDNA replication, we tested the ability of the helicase to unwind substrates with site-specific oxidative DNA lesions or bound by the mitochondrial transcription factor A. Twinkle helicase is inhibited by DNA damage in a unique manner that is dependent on the type of oxidative lesion and the strand in which it resides. Novel single molecule FRET binding and unwinding assays show an interaction of the excluded strand with Twinkle as well as events corresponding to stepwise unwinding and annealing. TFAM inhibits Twinkle unwinding, suggesting other replisome proteins may be required for efficient removal. These studies shed new insight on the catalytic functions of Twinkle on the key DNA structures it would encounter during replication or possibly repair of the mitochondrial genome and how well it tolerates potential roadblocks to DNA unwinding. C1 [Khan, Irfan; Crouch, Jack D.; Bharti, Sanjay Kumar; Sommers, Joshua A.; Brosh, Robert M., Jr.] NIA, Lab Mol Gerontol, NIH, Baltimore, MD 21224 USA. [Carney, Sean M.; Trakselis, Michael A.] Univ Pittsburgh, Mol Biophys & Struct Biol Program, Pittsburgh, PA 15260 USA. [Yakubovskaya, Elena; Garcia-Diaz, Miguel] SUNY Stony Brook, Dept Pharmacol Sci, Stony Brook, NY 11794 USA. [Trakselis, Michael A.] Baylor Univ, Dept Chem & Biochem, Waco, TX 76798 USA. RP Brosh, RM (reprint author), NIA, Lab Mol Gerontol, NIH, Biomed Res Ctr, 251 Bayview Blvd, Baltimore, MD 21224 USA. EM broshr@mail.nih.gov FU National Institutes of Health; NIA; University of Pittsburgh; Baylor University from American Cancer Society [RSG-11-049-01-DMC]; National Institutes of Health [GM100021] FX This work was supported by National Institutes of Health, NIA, University of Pittsburgh, Baylor University, Research Scholar Grant RSG-11-049-01-DMC (to M. A. T.) from the American Cancer Society, and National Institutes of Health Grant GM100021 (to M. G.-D.). The authors declare that they have no conflicts of interest with the contents of this article. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 57 TC 0 Z9 0 U1 5 U2 6 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD JUL 1 PY 2016 VL 291 IS 27 BP 14324 EP 14339 DI 10.1074/jbc.M115.712026 PG 16 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR5XG UT WOS:000379975100035 PM 27226550 ER PT J AU Hallett, M AF Hallett, Mark TI Physiology of Free Will SO ANNALS OF NEUROLOGY LA English DT Article ID NONINVASIVE BRAIN-STIMULATION; PARIETAL CORTEX; CONSCIOUS INTENTION; MOVEMENT INTENTION; VOLUNTARY MOVEMENT; AGENCY; SENSE; EXPERIENCE; POTENTIALS; AWARENESS AB Free will is a perception that people have that they choose to make their movements. This perception includes a sense of willing the movement and self-agency that they are responsible for the movement. If there is a "free will force" that plays a role in movement selection, it should precede movement. There is no evidence for a driving force, and the perception of willing is not fully processed until after the movement. The perceptions of free will likely arise from an interaction between frontal and parietal areas. Free will might be considered to exist if a person's brain is functioning normally without coercion. C1 [Hallett, Mark] NINDS, Human Motor Control Sect, NIH, Bldg 10,Room 7D37,10 Ctr Dr, Bethesda, MD 20892 USA. RP Hallett, M (reprint author), NINDS, Human Motor Control Sect, NIH, Bldg 10,Room 7D37,10 Ctr Dr, Bethesda, MD 20892 USA. EM hallettm@ninds.nih.gov FU NINDS FX This work was supported by the NINDS Intramural Program. NR 42 TC 1 Z9 1 U1 15 U2 18 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0364-5134 EI 1531-8249 J9 ANN NEUROL JI Ann. Neurol. PD JUL PY 2016 VL 80 IS 1 BP 5 EP 12 DI 10.1002/ana.24657 PG 8 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA DR5JM UT WOS:000379939300002 PM 27042814 ER PT J AU Tang, LL Zhang, W Li, QZ Ye, X Chan, L AF Tang, Liansheng Larry Zhang, Wei Li, Qizhai Ye, Xuan Chan, Leighton TI Least squares regression methods for clustered ROC data with discrete covariates SO BIOMETRICAL JOURNAL LA English DT Article DE Biomarker; Clustered data; Empirical function; ROC ID DIAGNOSTIC MARKERS; CURVE; AREA AB The receiver operating characteristic (ROC) curve is a popular tool to evaluate and compare the accuracy of diagnostic tests to distinguish the diseased group from the nondiseased group when test results from tests are continuous or ordinal. A complicated data setting occurs when multiple tests are measured on abnormal and normal locations from the same subject and the measurements are clustered within the subject. Although least squares regression methods can be used for the estimation of ROC curve from correlated data, how to develop the least squares methods to estimate the ROC curve from the clustered data has not been studied. Also, the statistical properties of the least squares methods under the clustering setting are unknown. In this article, we develop the least squares ROC methods to allow the baseline and link functions to differ, and more importantly, to accommodate clustered data with discrete covariates. The methods can generate smooth ROC curves that satisfy the inherent continuous property of the true underlying curve. The least squares methods are shown to be more efficient than the existing nonparametric ROC methods under appropriate model assumptions in simulation studies. We apply the methods to a real example in the detection of glaucomatous deterioration. We also derive the asymptotic properties of the proposed methods. C1 [Tang, Liansheng Larry; Ye, Xuan] George Mason Univ, Dept Stat, Fairfax, VA 22030 USA. [Tang, Liansheng Larry; Chan, Leighton] NIH, Epidemiol & Biostat, Ctr Clin, Rockville, MD 20814 USA. [Zhang, Wei; Li, Qizhai] Chinese Acad Sci, Acad Math & Syst Sci, Beijing, Peoples R China. RP Tang, LL (reprint author), George Mason Univ, Dept Stat, Fairfax, VA 22030 USA.; Tang, LL (reprint author), NIH, Epidemiol & Biostat, Ctr Clin, Rockville, MD 20814 USA. EM ltang1@gmu.edu FU Intramural Research Program of the National Institutes of Health; U.S. Social Security Administration; National Natural Science of China [11371353, 61134013]; Strategic Priority Research Program of the Chinese Academy of Sciences FX The authors thank two referees and the associate editor for their constructive comments. The authors thank Professor Gang Li for providing the Glaucoma dataset. This research was supported by the Intramural Research Program of the National Institutes of Health and the U.S. Social Security Administration. We would like to thank the NIH Library Writing Center for manuscript editing assistance. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Qizhai Li is partially supported by National Natural Science of China, nos. 11371353 and 61134013, and the Strategic Priority Research Program of the Chinese Academy of Sciences. NR 16 TC 0 Z9 0 U1 0 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0323-3847 EI 1521-4036 J9 BIOMETRICAL J JI Biom. J. PD JUL PY 2016 VL 58 IS 4 BP 747 EP 765 DI 10.1002/bimj.201500099 PG 19 WC Mathematical & Computational Biology; Statistics & Probability SC Mathematical & Computational Biology; Mathematics GA DR5FQ UT WOS:000379929300002 PM 26848938 ER PT J AU McMahan, CS McLain, AC Gallagher, CM Schisterman, EF AF McMahan, Christopher S. McLain, Alexander C. Gallagher, Colin M. Schisterman, Enrique F. TI Estimating covariate-adjusted measures of diagnostic accuracy based on pooled biomarker assessments SO BIOMETRICAL JOURNAL LA English DT Article DE AUC; Biological markers; Biomarker pooling; ROC curve; Youden's index ID TESTING REGRESSION-MODELS; CORONARY-HEART-DISEASE; ROC CURVE ANALYSIS; INFLAMMATION; SAMPLES; CANCER; RISK; POPULATIONS; OUTCOMES; THERAPY AB There is a need for epidemiological and medical researchers to identify new biomarkers (biological markers) that are useful in determining exposure levels and/or for the purposes of disease detection. Often this process is stunted by high testing costs associated with evaluating new biomarkers. Traditionally, biomarker assessments are individually tested within a target population. Pooling has been proposed to help alleviate the testing costs, where pools are formed by combining several individual specimens. Methods for using pooled biomarker assessments to estimate discriminatory ability have been developed. However, all these procedures have failed to acknowledge confounding factors. In this paper, we propose a regression methodology based on pooled biomarker measurements that allow the assessment of the discriminatory ability of a biomarker of interest. In particular, we develop covariate-adjusted estimators of the receiver-operating characteristic curve, the area under the curve, and Youden's index. We establish the asymptotic properties of these estimators and develop inferential techniques that allow one to assess whether a biomarker is a good discriminator between cases and controls, while controlling for confounders. The finite sample performance of the proposed methodology is illustrated through simulation. We apply our methods to analyze myocardial infarction (MI) data, with the goal of determining whether the pro-inflammatory cytokine interleukin-6 is a good predictor of MI after controlling for the subjects' cholesterol levels. C1 [McMahan, Christopher S.; Gallagher, Colin M.] Clemson Univ, Dept Math Sci, Clemson, SC 29634 USA. [McLain, Alexander C.] Univ South Carolina, Dept Epidemiol & Biostat, Columbia, SC 29208 USA. [Schisterman, Enrique F.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, Bethesda, MD 20892 USA. RP McMahan, CS (reprint author), Clemson Univ, Dept Math Sci, Clemson, SC 29634 USA. EM mcmaha2@clemson.edu OI Schisterman, Enrique/0000-0003-3757-641X FU Intramural Research Program of the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development FX Enrique F. Schisterman was supported in part by the Intramural Research Program of the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development. NR 35 TC 0 Z9 0 U1 2 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0323-3847 EI 1521-4036 J9 BIOMETRICAL J JI Biom. J. PD JUL PY 2016 VL 58 IS 4 BP 944 EP 961 DI 10.1002/bimj.201500195 PG 18 WC Mathematical & Computational Biology; Statistics & Probability SC Mathematical & Computational Biology; Mathematics GA DR5FQ UT WOS:000379929300013 PM 26927583 ER PT J AU Goldstein, B Merikangas, K Blanco, C Hatch, J Naiberg, M AF Goldstein, B. Merikangas, K. Blanco, C. Hatch, J. Naiberg, M. TI Cardiovascular risk factors are associated with heterogeneity in adolescent bipolar disorder SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Goldstein, B.; Hatch, J.; Naiberg, M.] Sunnybrook Hlth Sci Ctr, Ctr Youth Bipolar Disorder, Toronto, ON, Canada. [Goldstein, B.; Hatch, J.; Naiberg, M.] Univ Toronto, Dept Pharmacol & Psychiat, Toronto, ON, Canada. [Merikangas, K.] NIMH, Bethesda, MD 20892 USA. [Blanco, C.] NIDA, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA S-083 BP 43 EP 44 PG 3 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500091 ER PT J AU Merikangas, K Cui, L Lamers, F Glaus, J AF Merikangas, Kr Cui, L. Lamers, F. Glaus, J. TI Comorbidity of mood disorder subtypes and physical disorders in the NIMH family study of mood spectrum disorders SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Merikangas, Kr; Cui, L.; Glaus, J.] NIMH, Genet Epidemiol Res Branch, Bethesda, MD 20892 USA. [Lamers, F.] Vrije Univ Amsterdam Med Ctr, GGZ Geest, Dept Psychiat, Amsterdam, Netherlands. RI Glaus, Jennifer/C-7887-2017 OI Glaus, Jennifer/0000-0001-8883-9473 NR 0 TC 0 Z9 0 U1 1 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA S-082 BP 43 EP 43 PG 1 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500090 ER PT J AU Merikangas, KR AF Merikangas, K. R. TI New approaches to activation: objective assessment of activity in bipolar disorder in clinical and community samples SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Merikangas, K. R.] NIMH, Genet Epidemiol Res Branch, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA S-090 BP 46 EP 46 PG 1 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500098 ER PT J AU Merikangas, AK Cui, L Flagg, V Calkins, ME Moore, TM Gur, RC Gur, RE Merikangas, KR AF Merikangas, A. K. Cui, L. Flagg, V. Calkins, M. E. Moore, T. M. Gur, R. C. Gur, R. E. Merikangas, K. R. TI Neurocognitive performance as an endophenotype for mood disorder subgroups SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Merikangas, A. K.; Calkins, M. E.; Moore, T. M.; Gur, R. C.; Gur, R. E.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA. [Cui, L.; Flagg, V.; Merikangas, K. R.] NIMH, Genet Epidemiol Res Branch, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA RC-24 BP 68 EP 69 PG 2 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500164 ER PT J AU Lamers, F Swendsen, J Cui, L Zipunnikov, V Husky, M Merikangas, K AF Lamers, F. Swendsen, J. Cui, L. Zipunnikov, V. Husky, M. Merikangas, K. TI Mood variability and reactivity in bipolar spectrum disorders: an ecological momentary assessment study SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Lamers, F.] Vrije Univ Amsterdam, Med Ctr, Psychiat, Amsterdam, Netherlands. [Swendsen, J.] Univ Bordeaux, PSL Res Univ, Bordeaux, France. [Cui, L.; Merikangas, K.] NIMH, Genet Epidemiol Res Branch, Bethesda, MD 20892 USA. [Zipunnikov, V.] Johns Hopkins Bloomberg Sch Publ Hlth, Biostat, Baltimore, MD USA. [Husky, M.] Univ Bordeaux, Lab Psychol, Bordeaux, France. NR 0 TC 0 Z9 0 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA P-064 BP 89 EP 89 PG 1 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500228 ER PT J AU Soeiro-de-Souza, M Moreno, R Nery, F Chaim, K Vallada, H Machado-Vieira, R Lafer, B Otaduy, MC AF Soeiro-de-Souza, M. Moreno, R. Nery, F. Chaim, K. Vallada, H. Machado-Vieira, R. Lafer, B. Otaduy, M. C. TI The impact of CACNA1C risk allele on prefrontal age-related cortical thinning in bipolar I disorder SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Soeiro-de-Souza, M.; Moreno, R.; Nery, F.; Vallada, H.; Lafer, B.] Univ Sao Paulo, Psychiat, Sao Paulo, Brazil. [Chaim, K.; Otaduy, M. C.] Univ Sao Paulo, Radiol, Sao Paulo, Brazil. [Machado-Vieira, R.] NIMH, Expt Therapeut & Pathophysiol Branch, Bethesda, MD 20892 USA. RI MACHADO-VIEIRA, RODRIGO/D-8293-2012; OI MACHADO-VIEIRA, RODRIGO/0000-0002-4830-1190; Lafer, Beny/0000-0002-6132-9999 NR 0 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA P-139 BP 113 EP 113 PG 1 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500303 ER PT J AU Merikangas, K Cui, L Preisig, M Lamers, F AF Merikangas, K. Cui, L. Preisig, M. Lamers, F. TI Comorbidity of mood disorder subtypes and physical disorders in the NIMH family study of mood spectrum disorders SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Merikangas, K.; Cui, L.] NIMH, Intramural Res Program, Bethesda, MD 20892 USA. [Preisig, M.] CHUV, Psychiat, Prilly, Switzerland. [Lamers, F.] Univ Amsterdam, Psychiat, Amsterdam, Netherlands. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA P-181 BP 126 EP 126 PG 1 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500345 ER PT J AU Carvalho, A Kohler, C Fernandes, B Quevedo, J Miskowiak, K Knochel, C Brunoni, A Machado-Vieira, R Maes, M Vieta, E Berk, M AF Carvalho, A. Kohler, C. Fernandes, B. Quevedo, J. Miskowiak, K. Knochel, C. Brunoni, A. Machado-Vieira, R. Maes, M. Vieta, E. Berk, M. TI Bias in emerging peripheral biomarkers for bipolar disorder: an umbrella review of meta-analyses SO BIPOLAR DISORDERS LA English DT Meeting Abstract CT 18th Annual Conference of the International-Society-for-Bipolar-Disorders / 8th Biennial Conference of the International-Society-for-Affective-Disorders CY JUL 13-16, 2016 CL Amsterdam, NETHERLANDS SP Int Soc Bipolar Disorders, Int Soc Affect Disorders C1 [Carvalho, A.; Kohler, C.] Univ Fed Ceara, Dept Med Clin, Fortaleza, Ceara, Brazil. [Fernandes, B.] Deakin Univ, Sch Med, IMPACT Strateg Res Ctr, Geelong, Vic, Australia. [Fernandes, B.] Barwon Hlth, Geelong, Vic, Australia. [Quevedo, J.] Univ Texas Hlth Sci Ctr Houston, Dept Psychiat & Behav Sci, McGovern Med Sch, Ctr Excellence Mood Disorders, Houston, TX 77030 USA. [Miskowiak, K.] Copenhagen Univ Hosp, Rigshosp, Psychiat Ctr Copenhagen, Copenhagen, Denmark. [Knochel, C.] Goethe Univ Frankfurt, Dept Psychiat Psychosomat Med & Psychotherapy, Lab Neuroimaging, Frankfurt, Germany. [Brunoni, A.] Univ Sao Paulo, Dept & Inst Psychiat, SIN, Sao Paulo, Brazil. [Machado-Vieira, R.] NIMH, Expt Therapeut & Pathophysiol Branch, NIH, Bethesda, MD 20892 USA. [Maes, M.; Vieta, E.; Berk, M.] Hosp Clin Barcelona, IDIBAPS, CIBERSAM, Bipolar Disorders Program, Barcelona, Spain. RI MACHADO-VIEIRA, RODRIGO/D-8293-2012 OI MACHADO-VIEIRA, RODRIGO/0000-0002-4830-1190 NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1398-5647 EI 1399-5618 J9 BIPOLAR DISORD JI Bipolar Disord. PD JUL PY 2016 VL 18 SU 1 SI SI MA P-232 BP 142 EP 142 PG 1 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA DR5KI UT WOS:000379941500396 ER PT J AU Miller, KD Siegel, RL Lin, CC Mariotto, AB Kramer, JL Rowland, JH Stein, KD Alteri, R Jemal, A AF Miller, Kimberly D. Siegel, Rebecca L. Lin, Chun Chieh Mariotto, Angela B. Kramer, Joan L. Rowland, Julia H. Stein, Kevin D. Alteri, Rick Jemal, Ahmedin TI Cancer treatment and survivorship statistics, 2016 SO CA-A CANCER JOURNAL FOR CLINICIANS LA English DT Article DE prevalence; statistics; survivorship; treatment patterns ID ANDROGEN-DEPRIVATION THERAPY; QUALITY-OF-LIFE; ACUTE LYMPHOBLASTIC-LEUKEMIA; CHRONIC LYMPHOCYTIC-LEUKEMIA; LOCALIZED PROSTATE-CANCER; SELECTIVE BLADDER PRESERVATION; BREAST-CONSERVING THERAPY; POPULATION-BASED COHORT; ACUTE MYELOID-LEUKEMIA; LYMPH-NODE DISSECTION AB The number of cancer survivors continues to increase because of both advances in early detection and treatment and the aging and growth of the population. For the public health community to better serve these survivors, the American Cancer Society and the National Cancer Institute collaborate to estimate the number of current and future cancer survivors using data from the Surveillance, Epidemiology, and End Results cancer registries. In addition, current treatment patterns for the most prevalent cancer types are presented based on information in the National Cancer Data Base and treatment-related side effects are briefly described. More than 15.5 million Americans with a history of cancer were alive on January 1, 2016, and this number is projected to reach more than 20 million by January 1, 2026. The 3 most prevalent cancers are prostate (3,306,760), colon and rectum (724,690), and melanoma (614,460) among males and breast (3,560,570), uterine corpus (757,190), and colon and rectum (727,350) among females. More than one-half (56%) of survivors were diagnosed within the past 10 years, and almost one-half (47%) are aged 70 years or older. People with a history of cancer have unique medical and psychosocial needs that require proactive assessment and management by primary care providers. Although there are a growing number of tools that can assist patients, caregivers, and clinicians in navigating the various phases of cancer survivorship, further evidence-based resources are needed to optimize care. CA Cancer J Clin 2016;66:271-289. (c) 2016 American Cancer Society C1 [Miller, Kimberly D.; Jemal, Ahmedin] Amer Canc Soc, Surveillance & Hlth Serv Res, 250 Williams St NW, Atlanta, GA 30303 USA. [Siegel, Rebecca L.] Amer Canc Soc, Surveillance Informat Surveillance & Hlth Serv Re, Atlanta, GA 30329 USA. [Lin, Chun Chieh] Amer Canc Soc, Intramural Res Dept, Hlth Serv Res, Atlanta, GA 30329 USA. [Mariotto, Angela B.] NCI, Surveillance Res Program, Bethesda, MD 20892 USA. [Kramer, Joan L.] Emory Univ, Sch Med, Dept Hematol & Med Oncol, Atlanta, GA USA. [Rowland, Julia H.] NCI, Off Canc Survivorship, Bethesda, MD 20892 USA. [Stein, Kevin D.] Amer Canc Soc, Behav Res Ctr, Atlanta, GA 30329 USA. [Alteri, Rick] Amer Canc Soc, Atlanta, GA 30329 USA. RP Miller, KD (reprint author), Amer Canc Soc, Surveillance & Hlth Serv Res, 250 Williams St NW, Atlanta, GA 30303 USA. EM kimberly.miller@cancer.org NR 139 TC 79 Z9 80 U1 108 U2 133 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0007-9235 EI 1542-4863 J9 CA-CANCER J CLIN JI CA-Cancer J. Clin. PD JUL-AUG PY 2016 VL 66 IS 4 BP 271 EP 289 DI 10.3322/caac.21349 PG 19 WC Oncology SC Oncology GA DR4WG UT WOS:000379903200003 PM 27253694 ER PT J AU Turkbey, B Brown, AM Sankineni, S Wood, BJ Pinto, PA Choyke, PL AF Turkbey, Baris Brown, Anna M. Sankineni, Sandeep Wood, Bradford J. Pinto, Peter A. Choyke, Peter L. TI Multiparametric prostate magnetic resonance imaging in the evaluation of prostate cancer SO CA-A CANCER JOURNAL FOR CLINICIANS LA English DT Review DE active surveillance; high risk; multiparametric magnetic resonance imaging (MRI); prostate cancer ID CONTRAST-ENHANCED MRI; RADICAL RETROPUBIC PROSTATECTOMY; EXTERNAL-BEAM RADIOTHERAPY; ULTRASOUND-GUIDED BIOPSY; 3 T; TRANSRECTAL ULTRASOUND; ACTIVE SURVEILLANCE; ENDORECTAL COIL; IRREVERSIBLE ELECTROPORATION; TRANSPERINEAL BIOPSY AB Imaging has traditionally played a minor role in the diagnosis and staging of prostate cancer. However, recent controversies generated by the use of prostate-specific antigen (PSA) screening followed by random biopsy have encouraged the development of new imaging methods for prostate cancer. Multiparametric magnetic resonance imaging (mpMRI) has emerged as the imaging method best able to detect clinically significant prostate cancers and to guide biopsies. Here, the authors explain what mpMRI is and how it is used clinically, especially with regard to high-risk populations, and we discuss the impact of mpMRI on treatment decisions for men with prostate cancer. CA Cancer J Clin 2016;66:326-336. (c) 2015 American Cancer Society C1 [Turkbey, Baris; Sankineni, Sandeep; Choyke, Peter L.] NCI, Mol Imaging Program, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Brown, Anna M.] NCI, Med Res Scholars Program, Mol Imaging Program, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. [Wood, Bradford J.] NIH, Ctr Intervent Oncol, Bldg 10, Bethesda, MD 20892 USA. [Wood, Bradford J.] NIH, Intervent Radiol Sect, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Pinto, Peter A.] NCI, Prostate Canc Sect, Urol Oncol Branch, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. RP Turkbey, B (reprint author), 10 Ctr Dr,Room B3B85, Bethesda, MD 20892 USA. EM turkbeyi@mail.nih.gov FU NIH FX This research was made possible through the National Institutes of Health (NIH) Medical Research Scholars Program, a public-private partnership supported jointly by the NIH, and by generous contributions to the Foundation for the NIH from Pfizer Inc, the Doris Duke Charitable Foundation, the Newport Foundation, the American Association for Dental Research, the Howard Hughes Medical Institute, and the Colgate-Palmolive Company, as well as other private donors (for a complete list, please visit fnih.org/what-we-do/current-education-and-training-programs/mrsp). The NIH has a Cooperative Research and Development Agreement with Philips and InVivo as well as related shared intellectual property. Peter A. Pinto has a patent entitled Method and System for Performing Biopsies issued and a patent entitled System and Method for Planning and Performing a Repeat Interventional Procedure pending. Bradford J. Wood has a patent (US Patent 8,447,384) entitled Method and System for Performing Biopsies issued; a patent (US Patent 8731264) entitled System and Method for Fusing Real-Time Ultrasound Images With Preacquired Medical Images issued; a patent entitled System, Methods, and Instrumentation for Image-Guided Prostate Treatment issued; a patent entitled System and Method for Integrated Biopsy and Therapy pending; a patent entitled Repeat Biopsy System and Method pending; a patent entitled System and Method for Fusing Real-Time Freehand Ultrasound with Preacquired Medical Images pending; a patent entitled System and Method for Prostate Cancer Detection and Distribution Mapping pending; a patent entitled Feedback System for Integrated Interventional Planning and Navigation pending; a patent entitled Device and Method for a Trackable Ultrasound pending; a patent entitled Electromagnetically Trackable Rectal Ultrasound Transducer Needle Guide for Prostate Biopsy, Brachytherapy, or Ablation pending; and a patent entitled Multimodality Imaging System With 3-dimensional Ultrasound pending. Anna M. Brown, Baris Turkbey, Sandeep Sankineni, and Peter L. Choyke have no disclosures to declare. NR 97 TC 11 Z9 11 U1 4 U2 6 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0007-9235 EI 1542-4863 J9 CA-CANCER J CLIN JI CA-Cancer J. Clin. PD JUL-AUG PY 2016 VL 66 IS 4 BP 326 EP 336 DI 10.3322/caac.21333 PG 11 WC Oncology SC Oncology GA DR4WG UT WOS:000379903200006 PM 26594835 ER PT J AU Bluethmann, SM Mariotto, AB Rowland, JH AF Bluethmann, Shirley M. Mariotto, Angela B. Rowland, Julia H. TI Anticipating the "Silver Tsunami": Prevalence Trajectories and Comorbidity Burden among Older Cancer Survivors in the United States SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID GERIATRIC ASSESSMENT; AGING POPULATION; CARE; ONCOLOGY; ADULTS; HEALTH; LIFE; US; PROJECTIONS; SOCIETY AB Background: Cancer survivors are a growing population, due in large part to the aging of the baby boomer generation and the related "silver tsunami" facing the U.S. health care system. Understanding the impact of a graying nation on cancer prevalence and comorbidity burden is critical in informing efforts to design and implement quality cancer care for this population. Methods: Incidence and survival data from 1975 to 2011 were obtained from the Surveillance, Epidemiology, and End Results (SEER) Program to estimate current cancer prevalence. SEER-Medicare claims data were used to estimate comorbidity burden. Prevalence projections were made using U.S. Census Bureau data and the Prevalence Incidence Approach Model, assuming constant future incidence and survival trends but dynamic projections of the U.S. population. Results: In 2016, there were an estimated 15.5 million cancer survivors living in the United States, 62% of whom were 65 years or older. The prevalent population is projected to grow to 26.1 million by 2040, and include 73% of survivors who are 65 years and older. Comorbidity burden was highest in the oldest survivors (those >= 85 years) and worst among lung cancer survivors. Conclusions: Older adults, who often present with complex health needs, now constitute the majority of cancer survivors and will continue to dominate the survivor population over the next 24 years. Impact: The oldest adults (i.e., those >75 years) should be priority populations in a pressing cancer control and prevention research agenda that includes expanding criteria for clinical trials to recruit more elderly participants and developing relevant supportive care interventions. (C)2016 AACR. C1 [Bluethmann, Shirley M.] NCI, Canc Prevent Fellowship Program, Canc Prevent Div, Bethesda, MD 20892 USA. [Bluethmann, Shirley M.] NCI, Behav Res Program, Div Canc Control & Populat Sci, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. [Mariotto, Angela B.] NCI, Surveillance Res Program, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. [Rowland, Julia H.] NCI, Off Canc Survivorship, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. RP Bluethmann, SM (reprint author), NCI, Behav Res Program, Div Canc Control & Populat Sci, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. EM shelley.bluethmann@nih.gov FU Intramural NIH HHS [Z99 CA999999] NR 50 TC 5 Z9 5 U1 2 U2 4 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1029 EP 1036 DI 10.1158/1055-9965.EPI-16-0133 PG 8 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700003 PM 27371756 ER PT J AU McGuire, V Hartge, P Liao, LM Sinha, R Bernstein, L Canchola, AJ Anderson, GL Stefanick, ML Whittemore, AS AF McGuire, Valerie Hartge, Patricia Liao, Linda M. Sinha, Rashmi Bernstein, Leslie Canchola, Alison J. Anderson, Garnet L. Stefanick, Marcia L. Whittemore, Alice S. TI Parity and Oral Contraceptive Use in Relation to Ovarian Cancer Risk in Older Women SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID STATES CASE-CONTROL; UNITED-STATES; COLLABORATIVE ANALYSIS; POSTMENOPAUSAL WOMEN; INCESSANT OVULATION; HEALTH; BREAST; PREMENOPAUSAL; HYPOTHESIS AB Background: Several studies have suggested that the ovarian cancer risk reductions associated with parity and oral contraceptive use are weaker in postmenopausal than premenopausal women, yet little is known about the persistence of these reductions as women age. This question gains importance with the increasing numbers of older women in the population. Methods: We addressed the question using data from three large U.S. cohort studies involving 310,290 white women aged 50+ years at recruitment, of whom 1,815 developed subsequent incident invasive epithelial ovarian cancer. We used Cox regression, stratified by cohort, to examine age-related trends in the HRs per full-term pregnancy and per year of oral contraceptive use. Results: The parity-associated risk reductions waned with age (P-trend < 0.001 in HR with increasing age), particularly among women aged 75 years or more, for whom we observed no association with parity. However, we observed no such attenuation in the oral contraceptive-associated risk reductions (P = 0.79 for trend in HR with increasing age). Conclusion: These findings suggest that prior oral contraceptive use is important for ovarian cancer risk assessment among women of all ages, while the benefits of parity wane as women age. Impact: This information, if duplicated in other studies, will be useful to preventive counseling and risk prediction, particularly for women at increased ovarian cancer risk due to a personal history of breast cancer or a family history of ovarian cancer. (C)2016 AACR. C1 [McGuire, Valerie; Whittemore, Alice S.] Stanford Univ, Sch Med, Dept Hlth Res & Policy, Div Epidemiol, Stanford, CA 94305 USA. [Hartge, Patricia] NCI, Div Canc Epidemiol & Biostat, Bethesda, MD 20892 USA. [Liao, Linda M.; Sinha, Rashmi] NCI, Div Canc Epidemiol & Genet, Nutr Epidemiol Branch, Bethesda, MD 20892 USA. [Bernstein, Leslie] City Hope Natl Med Ctr, Natl Med Ctr, Dept Populat Sci, Div Canc Etiol, Duarte, CA USA. [Bernstein, Leslie] Ctr Comprehens Canc, Duarte, CA USA. [Canchola, Alison J.] Canc Prevent Inst Calif, Fremont, CA USA. [Anderson, Garnet L.] Univ Washington, Sch Publ Hlth & Community Med, Fred Hutchinson Canc Res Ctr, Publ Hlth Sci Div Canc Prevent, Seattle, WA 98195 USA. [Stefanick, Marcia L.] Stanford Univ, Sch Med, Stanford Prevent Res Ctr, Dept Med, Stanford, CA 94305 USA. RP Whittemore, AS (reprint author), Stanford Univ, Sch Med, HRP Redwood Bldg,Rm T204,259 Campus Dr, Stanford, CA 94305 USA. EM alicesw@stanford.edu FU NIH [R01CA094069]; Stanford Cancer Institute Developmental Cancer Research Award; Intramural Research Program of the NIH, NCI; National Heart, Lung, and Blood Institute, NIH, U.S. Department of Health and Human Services [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C]; [RO1 CA77398] FX This research was supported by the NIH grants R01CA094069 (to A.S. Whittemore) and the Stanford Cancer Institute Developmental Cancer Research Award (to A.S. Whittemore). The California Teachers Study was supported by RO1 CA77398 (to L. Bernstein). The AARP program was supported (in part) by the Intramural Research Program of the NIH, NCI (http://dietandhealth.cancer.gov/acknowledgement.html; to P. Hartge, L.M. Liao, and R. Sinha). The Women's Health Initiative program is funded by the National Heart, Lung, and Blood Institute, NIH, U.S. Department of Health and Human Services through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C (to G.L. Anderson and M.L. Stefanick). NR 16 TC 1 Z9 1 U1 8 U2 9 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1059 EP 1063 DI 10.1158/1055-9965.EPI-16-0011 PG 5 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700007 PM 27197274 ER PT J AU Brinton, LA Trabert, B Anderson, GL Falk, RT Felix, AS Fuhrman, BJ Gass, ML Kuller, LH Pfeiffer, RM Rohan, TE Strickler, HD Xu, X Wentzensen, N AF Brinton, Louise A. Trabert, Britton Anderson, Garnet L. Falk, Roni T. Felix, Ashley S. Fuhrman, Barbara J. Gass, Margery L. Kuller, Lewis H. Pfeiffer, Ruth M. Rohan, Thomas E. Strickler, Howard D. Xu, Xia Wentzensen, Nicolas TI Serum Estrogens and Estrogen Metabolites and Endometrial Cancer Risk among Postmenopausal Women SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID SIMILAR-TO-FIT; BREAST-CANCER; ENDOGENOUS ESTROGENS; CATECHOL ESTROGENS; CIRCULATING LEVELS; MASS-SPECTROMETRY; SEX-HORMONES; BODY-MASS; HEALTH; TRIAL AB Background: Although endometrial cancer is clearly influenced by hormonal factors, few epidemiologic studies have investigated the role of endogenous estrogens or especially estrogen metabolites. Methods: We conducted a nested case-control study within the Women's Health Initiative Observational Study (WHI-OS), a cohort of 93,676 postmenopausal women recruited between 1993 and 1998. Using baseline serum samples from women who were non-current hormone users with intact uteri, we measured 15 estrogens/estrogen metabolites via HPLC/MS-MS among 313 incident endometrial cancer cases (271 type I, 42 type II) and 354 matched controls, deriving adjusted ORs and 95% confidence intervals (CI) for overall and subtype-specific endometrial cancer risk. Results: Parent estrogens (estrone and estradiol) were positively related to endometrial cancer risk, with the highest risk observed for unconjugated estradiol (OR 5th vs. 1st quintile = 6.19; 95% CI, 2.95-13.03, P-trend = 0.0001). Nearly all metabolites were significantly associated with elevated risks, with some attenuation after adjustment for unconjugated estradiol (residual risks of 2- to 3-fold). Body mass index (kg/m(2), BMI) relations were somewhat reduced after adjustment for estrogen levels. The association with unconjugated estradiol was stronger for type I than type II tumors (P-het = 0.01). Conclusions: Parent estrogens as well as individual metabolites appeared to exert generalized uterotropic activity, particularly for type I tumors. The effects of obesity on risk were only partially explained by estrogens. Impact: These findings enhance our understanding of estrogen mechanisms involved in endometrial carcinogenesis but also highlight the need for studying additional markers that may underlie the effects on risk of certain risk factors, for example, obesity. (C)2016 AACR. C1 [Brinton, Louise A.; Trabert, Britton; Falk, Roni T.; Felix, Ashley S.; Pfeiffer, Ruth M.; Wentzensen, Nicolas] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Anderson, Garnet L.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA. [Felix, Ashley S.] Ohio State Univ, Div Epidemiol, Coll Publ Hlth, Columbus, OH 43210 USA. [Fuhrman, Barbara J.] Univ Arkansas Med Sci, Dept Epidemiol, Fay W Boozman Coll Publ Hlth, Little Rock, AR 72205 USA. [Kuller, Lewis H.] Univ Pittsburgh, Dept Epidemiol, Pittsburgh, PA 15261 USA. [Rohan, Thomas E.; Strickler, Howard D.] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA. [Xu, Xia] Leidos Biomed Res Inc, Canc Res Technol Program, Frederick Natl Lab Canc Res, Frederick, MD USA. RP Brinton, LA (reprint author), NCI, 9609 Med Ctr Dr,Room 7E-102,MSC 9774, Bethesda, MD 20892 USA. EM brintonl@exchange.nih.gov RI Trabert, Britton/F-8051-2015 FU Intramural Research Program of the NCI; National Heart, Lung, and Blood Institute, NIH, U.S. Department of Health and Human Services [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C] FX This work was supported in part by the Intramural Research Program of the NCI. The WHI program is funded by the National Heart, Lung, and Blood Institute, NIH, U.S. Department of Health and Human Services through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C. NR 40 TC 3 Z9 3 U1 4 U2 10 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1081 EP 1089 DI 10.1158/1055-9965.EPI-16-0225 PG 9 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700010 PM 27197275 ER PT J AU Engels, EA Parsons, R Besson, C Morton, LM Enewold, L Ricker, W Yanik, EL Arem, H Austin, AA Pfeiffer, RM AF Engels, Eric A. Parsons, Ruth Besson, Caroline Morton, Lindsay M. Enewold, Lindsey Ricker, Winnie Yanik, Elizabeth L. Arem, Hannah Austin, April A. Pfeiffer, Ruth M. TI Comprehensive Evaluation of Medical Conditions Associated with Risk of Non-Hodgkin Lymphoma using Medicare Claims ("MedWAS") SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID CHRONIC LYMPHOCYTIC-LEUKEMIA; GENOME-WIDE ASSOCIATION; SOLID-ORGAN TRANSPLANTATION; NONMELANOMA SKIN-CANCER; UNITED-STATES; AUTOIMMUNE CONDITIONS; SUSCEPTIBILITY LOCI; METABOLIC SYNDROME; ELDERLY ADULTS; CELL LYMPHOMA AB Background: Certain medical conditions affect risk of non-Hodgkin lymphoma (NHL), but the full range of associations is unknown. We implemented a novel method ("medical condition- wide association study,"MedWAS) to comprehensively evaluate medical risk factors for NHL documented in administrative health claims. Methods: Using Surveillance, Epidemiology, and End Results (SEER)-Medicare data, we conducted a case-control study comparing NHL cases [N = 52,691, age 66+ years, with five subtypes: chronic lymphocytic leukemia/small lymphocytic lymphoma, diffuse large B-cell lymphoma (DLBCL), follicular lymphoma, marginal zone lymphoma (MZL), T-cell lymphoma (TCL)] to controls (N = 200,000). We systematically screened for associations with 5,926 medical conditions documented in Medicare claims more than 1 year before selection. Results: Fifty-five conditions were variously associated with NHL. Examples include well-established associations of human immunodeficiency virus, solid organ transplantation, and hepatitis C virus with increased DLBCL risk (ORs 3.83, 4.27, and 1.74, respectively), and autoimmune conditions with DLBCL and MZL (e.g., ORs of 2.10 and 4.74, respectively, for Sjogren syndrome). Risks for all NHL subtypes were increased after diagnoses of nonmelanoma skin cancer (ORs 1.19-1.55), actinic keratosis (1.12-1.25), or hemolytic anemia (1.64-4.07). Nine additional skin conditions increased only TCL risk (ORs 2.20-4.12). Diabetes mellitus was associated with increased DLBCL risk (OR 1.09). Associations varied significantly across NHL subtypes for 49 conditions (89%). Conclusion: Using an exploratory method, we found numerous medical conditions associated with NHL risk, and many associations varied across NHL subtypes. Impact: These results point to etiologic heterogeneity among NHL subtypes. MedWAS is a new method for assessing the etiology of cancer and other diseases. (C) 2016 AACR. C1 [Engels, Eric A.; Besson, Caroline; Morton, Lindsay M.; Yanik, Elizabeth L.; Arem, Hannah; Pfeiffer, Ruth M.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Parsons, Ruth; Ricker, Winnie] Informat Management Serv Inc, Rockville, MD USA. [Besson, Caroline] Univ Paris Sud, Fac Med, Le Kremlin Bicetre, France. [Enewold, Lindsey] NCI, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. [Austin, April A.] New York State Dept Hlth, New York State Canc Registry, Albany, NY USA. RP Engels, EA (reprint author), NCI, Div Canc Epidemiol & Genet, Infect & Immunoepidemiol Branch, 9609 Med Ctr Dr,Room 6E226, Bethesda, MD 20892 USA. EM engelse@exchange.nih.gov OI Besson, Caroline/0000-0003-4364-7173 FU Intramural Research Program of the NCI FX This study was supported by the Intramural Research Program of the NCI. The authors acknowledge the efforts of the Applied Research Program, NCI; the Office of Research, Development, and Information, Centers for Medicare and Medicaid Services; Information Management Services, Inc.; and the Surveillance, Epidemiology, and End Results (SEER) program tumor registries in the creation of the SEER-Medicare database. NR 46 TC 1 Z9 1 U1 1 U2 2 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1105 EP 1113 DI 10.1158/1055-9965.EPI-16-0212 PG 9 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700013 PM 27197296 ER PT J AU Cannioto, R LaMonte, MJ Risch, HA Hong, CC Sucheston-Campbell, LE Eng, KH Szender, JB Chang-Claude, J Schmalfeldt, B Klapdor, R Gower, E Minlikeeva, AN Zirpoli, GR Bandera, EV Berchuck, A Cramer, D Doherty, JA Edwards, RP Fridley, BL Goode, EL Goodman, MT Hogdall, E Hosono, S Jensen, A Jordan, S Kjaer, SK Matsuo, K Ness, RB Olsen, CM Olson, SH Pearce, CL Pike, MC Rossing, MA Szamreta, EA Thompson, PJ Tseng, CC Vierkant, RA Webb, PM Wentzensen, N Wicklund, KG Winham, SJ Wu, AH Modugno, F Schildkraut, JM Terry, KL Kelemen, LE Moysich, KB AF Cannioto, Rikki LaMonte, Michael J. Risch, Harvey A. Hong, Chi-Chen Sucheston-Campbell, Lara E. Eng, Kevin H. Szender, J. Brian Chang-Claude, Jenny Schmalfeldt, Barbara Klapdor, Ruediger Gower, Emily Minlikeeva, Albina N. Zirpoli, Gary R. Bandera, Elisa V. Berchuck, Andrew Cramer, Daniel Doherty, Jennifer A. Edwards, Robert P. Fridley, Brooke L. Goode, Ellen L. Goodman, Marc T. Hogdall, Estrid Hosono, Satoyo Jensen, Allan Jordan, Susan Kjaer, Susanne K. Matsuo, Keitaro Ness, Roberta B. Olsen, Catherine M. Olson, Sara H. Pearce, Celeste Leigh Pike, Malcolm C. Rossing, Mary Anne Szamreta, Elizabeth A. Thompson, Pamela J. Tseng, Chiu-Chen Vierkant, Robert A. Webb, Penelope M. Wentzensen, Nicolas Wicklund, Kristine G. Winham, Stacey J. Wu, Anna H. Modugno, Francesmary Schildkraut, Joellen M. Terry, Kathryn L. Kelemen, Linda E. Moysich, Kirsten B. CA Australian Ovarian Canc Study Grp TI Chronic Recreational Physical Inactivity and Epithelial Ovarian Cancer Risk: Evidence from the Ovarian Cancer Association Consortium SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID POOLED ANALYSIS; SEDENTARY BEHAVIOR; SINGLE-ITEM; HORMONE-THERAPY; US COHORT; OBESITY; INFLAMMATION; METAANALYSIS; EXERCISE; MARKERS AB Background: Despite a large body of literature evaluating the association between recreational physical activity and epithelial ovarian cancer (EOC) risk, the extant evidence is inconclusive, and little is known about the independent association between recreational physical inactivity and EOC risk. We conducted a pooled analysis of nine studies from the Ovarian Cancer Association Consortium to investigate the association between chronic recreational physical inactivity and EOC risk. Methods: In accordance with the 2008 Physical Activity Guidelines for Americans, women reporting no regular, weekly recreational physical activity were classified as inactive. Multivariable logistic regression was utilized to estimate the ORs and 95% confidence intervals (CI) for the association between inactivity and EOC risk overall and by subgroups based upon histotype, menopausal status, race, and body mass index. Results: The current analysis included data from 8,309 EOC patients and 12,612 controls. We observed a significant positive association between inactivity and EOC risk (OR = 1.34; 95% CI, 1.14-1.57), and similar associations were observed for each histotype. Conclusions: In this large pooled analysis examining the association between recreational physical inactivity and EOC risk, we observed consistent evidence of an association between chronic inactivity and all EOC histotypes. Impact: These data add to the growing body of evidence suggesting that inactivity is an independent risk factor for cancer. If the apparent association between inactivity and EOC risk is substantiated, additional work via targeted interventions should be pursued to characterize the dose of activity required to mitigate the risk of this highly fatal disease. (C) 2016 AACR. C1 [Cannioto, Rikki; Hong, Chi-Chen; Sucheston-Campbell, Lara E.; Gower, Emily; Minlikeeva, Albina N.; Zirpoli, Gary R.; Moysich, Kirsten B.] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Elm & Carlton St, Buffalo, NY 14263 USA. [LaMonte, Michael J.; Gower, Emily; Minlikeeva, Albina N.] SUNY Buffalo, Dept Epidemiol & Environm Hlth, Buffalo, NY USA. [Risch, Harvey A.] Yale Sch Publ Hlth, Dept Chron Dis Epidemiol, New Haven, CT USA. [Eng, Kevin H.] Roswell Pk Canc Inst, Dept Biostat & Bioinformat, Buffalo, NY 14263 USA. [Szender, J. Brian] Roswell Pk Canc Inst, Dept Gynecol Oncol, Buffalo, NY 14263 USA. [Chang-Claude, Jenny] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany. [Chang-Claude, Jenny] Univ Med Ctr Hamburg Eppendorf, UCCH, Hamburg, Germany. [Schmalfeldt, Barbara] Univ Med Ctr Hamburg Eppendorf UKE, Dept Gynecol, Hamburg, Germany. [Klapdor, Ruediger] Hannover Med Sch, Dept Obstet & Gynecol, Hannover, Niedersachsen, Germany. [Bandera, Elisa V.; Szamreta, Elizabeth A.] Rutgers Canc Inst New Jersey, Canc Prevent & Control, New Brunswick, NJ USA. [Berchuck, Andrew] Duke Univ, Med Ctr, Dept Obstet & Gynecol, Durham, NC 27710 USA. [Cramer, Daniel; Terry, Kathryn L.] Brigham & Womens Hosp, Obstet & Gynecol Epidemiol Ctr, 75 Francis St, Boston, MA 02115 USA. [Cramer, Daniel; Terry, Kathryn L.] Harvard Med Sch, Boston, MA USA. [Doherty, Jennifer A.] Geisel Sch Med Dartmouth Med, Dept Epidemiol, Hanover, NH USA. [Edwards, Robert P.; Modugno, Francesmary] Univ Pittsburgh, Sch Med, Dept Obstet Gynecol & Reprod Sci, Pittsburgh, PA USA. [Edwards, Robert P.; Modugno, Francesmary] Magee Womens Res Inst, Womens Canc Res Program, Ovarian Canc Ctr Excellence, Pittsburgh, PA USA. [Edwards, Robert P.; Modugno, Francesmary] Univ Pittsburgh, Inst Canc, Pittsburgh, PA USA. [Fridley, Brooke L.] Univ Kansas, Med Ctr, Biostat & Informat Shared Resource, Kansas City, KS 66103 USA. [Goode, Ellen L.] Mayo Clin, Div Epidemiol, Dept Hlth Sci Res, Rochester, MN USA. [Goodman, Marc T.; Thompson, Pamela J.] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Canc Prevent & Control, Los Angeles, CA 90048 USA. [Hogdall, Estrid; Jensen, Allan; Kjaer, Susanne K.] Danish Canc Soc, Res Ctr, Dept Virus Lifestyle & Genes, Copenhagen, Denmark. [Hogdall, Estrid] Univ Copenhagen, Herlev Hosp, Dept Pathol, Mol Unit, Copenhagen, Denmark. [Hosono, Satoyo] Aichi Canc Ctr, Div Epidemiol & Prevent, Res Inst, Nagoya, Aichi, Japan. [Jordan, Susan] Peter MacCallum Canc Ctr, East Melbourne, Vic, Australia. [Jordan, Susan; Olsen, Catherine M.; Webb, Penelope M.] QIMR Berghofer Med Res Inst, Populat Hlth Dept, Brisbane, Qld, Australia. [Kjaer, Susanne K.] Univ Copenhagen, Rigshosp, Dept Gynaecol, Copenhagen, Denmark. [Matsuo, Keitaro] Aichi Canc Ctr, Div Mol Med, Res Inst, Nagoya, Aichi, Japan. [Ness, Roberta B.] Univ Texas Houston, Sch Publ Hlth, Houston, TX USA. [Olson, Sara H.; Pike, Malcolm C.] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA. [Pearce, Celeste Leigh] Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA. [Rossing, Mary Anne; Wicklund, Kristine G.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Program Epidemiol, 1124 Columbia St, Seattle, WA 98104 USA. [Tseng, Chiu-Chen; Wu, Anna H.] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA. [Vierkant, Robert A.; Winham, Stacey J.] Mayo Clin, Div Biomed Stat & Informat, Dept Hlth Sci Res, Rochester, MN USA. [Wentzensen, Nicolas] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Modugno, Francesmary] Univ Pittsburgh, Dept Epidemiol, Grad Sch Publ Hlth, Pittsburgh, PA 15261 USA. [Schildkraut, Joellen M.] Univ Virginia, Dept Publ Hlth Sci, Charlottesville, VA USA. [Kelemen, Linda E.] Med Univ South Carolina, Dept Publ Hlth Sci, Charleston, SC 29425 USA. RP Moysich, KB (reprint author), Roswell Pk Canc Inst, Dept Canc Prevent & Control, Elm & Carlton St, Buffalo, NY 14263 USA. EM kirsten.moysich@roswellpark.org RI Olsen, Catherine/C-8785-2009; OI Olsen, Catherine/0000-0003-4483-1888; Winham, Stacey/0000-0002-8492-9102; Matsuo, Keitaro/0000-0003-1761-6314 FU U.S. Army Medical Research and Materiel Command [DA17-01-1-0729]; National Health & Medical Research Council of Australia [199600, 400281]; Cancer Councils of New South Wales; Cancer Councils of Victoria; Cancer Councils of Queensland; Cancer Councils of South Australia; Cancer Councils of Tasmania; Cancer Foundation of Western Australia; AOCS Cancer Council [191, 211, 182]; NIH [R01-CA074850, R01-CA080742, R01-CA112523, R01-CA87538, R01-CA58598, N01-CN- 55424, N01-PC67001, R01-CA54419, P50-CA105009]; DOD [DA17-02-1-0669, W81XWH-10-1-02802]; NCI [K07-CA080668, R01-CA95023, P50-CA159981, R01CA61107, NIH-K07 CA095666, R01-CA83918, NIH-K22CA138563, P30-CA072720, P30-CA008748]; Danish Cancer Society, Copenhagen, Denmark [94 222 52]; Mermaid I project; Cancer Institute of New Jersey; California Cancer Research Program [00-01389V-20170, 2II0200]; [R01-CA122443]; [P01CA17054]; [P30CA14089]; [R01CA61132]; [N01PC67010]; [R03CA113148]; [R03CA115195]; [N01CN025403] FX The following studies were funded by the following grants:; AUS (G. Chenevix-Trench/P.M. Webb): U.S. Army Medical Research and Materiel Command (DA17-01-1-0729), National Health & Medical Research Council of Australia, Cancer Councils of New South Wales, Victoria, Queensland, South Australia, and Tasmania, Cancer Foundation of Western Australia; National Health and Medical Research Council of Australia (199600 and 400281). The grant numbers for AOCS Cancer Council funding are as follows-Multi-state application numbers 191, 211, and 182;; CON (H.A. Risch): NIH (R01-CA074850; R01-CA080742);; DOV (M.A. Rossing): NIH R01-CA112523 and R01-CA87538;; HAW (M.T. Goodman): NIH (R01-CA58598, N01-CN- 55424 and N01-PC67001);; HOP (F.Modugno, R.B. Ness, K.B. Moysich): DOD: DA17-02-1-0669 and NCI: K07-CA080668, R01-CA95023, P50-CA159981;; MAL (S.K. Kjaer): Funding for this study was provided by research grant R01CA61107 from the NCI; research grant 94 222 52 from the Danish Cancer Society, Copenhagen, Denmark; and the Mermaid I project;; MAY/MAC (E.L. Goode): R01-CA122443; NEC (D.W. Cramer, K.L. Terry): NIH R01-CA54419 and P50-CA105009 and Department of Defense W81XWH-10-1-02802;; NJO (E.V. Bandera): NCI (NIH-K07 CA095666, R01-CA83918, NIH-K22CA138563, and P30-CA072720) and the Cancer Institute of New Jersey; (S.H. Olson) NCI CCSG award (P30-CA008748);; USC (C.L. Pearce): P01CA17054, P30CA14089, R01CA61132, N01PC67010, R03CA113148, R03CA115195, N01CN025403, and California Cancer Research Program (00-01389V-20170, 2II0200). NR 73 TC 0 Z9 0 U1 2 U2 4 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1114 EP 1124 DI 10.1158/1055-9965.EPI-15-1330 PG 11 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700014 PM 27197285 ER PT J AU Masson-Lecomte, A de Maturana, EL Goddard, ME Picornell, A Rava, M Gonzalez-Neira, A Marquez, M Carrato, A Tardon, A Lloreta, J Garcia-Closas, M Silverman, D Rothman, N Kogevinas, M Allory, Y Chanock, SJ Real, FX Malats, N AF Masson-Lecomte, Alexandra Lopez de Maturana, Evangelina Goddard, Michael E. Picornell, Antoni Rava, Marta Gonzalez-Neira, Anna Marquez, Mirari Carrato, Alfredo Tardon, Adonina Lloreta, Josep Garcia-Closas, Montserrat Silverman, Debra Rothman, Nathaniel Kogevinas, Manolis Allory, Yves Chanock, Stephen J. Real, Francisco X. Malats, Nuria CA SBC EPICURO Study Investigators TI Inflammatory-Related Genetic Variants in Non-Muscle-Invasive Bladder Cancer Prognosis: A Multimarker Bayesian Assessment SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID GENOME-WIDE ASSOCIATION; CALMETTE-GUERIN IMMUNOTHERAPY; CONFERS SUSCEPTIBILITY; UROTHELIAL CARCINOMA; SEQUENCE VARIANT; TUMOR STAGE; POLYMORPHISMS; SURVIVAL; RISK; PREDICTION AB Background: Increasing evidence points to the role of tumor immunologic environment on urothelial bladder cancer prognosis. This effect might be partly dependent on the host genetic context. We evaluated the association of SNPs in inflammation-related genes with non-muscle-invasive bladder cancer (NMIBC) risk-of-recurrence and risk-of-progression. Methods: We considered 822 NMIBC included in the SBC/EPICURO Study followed-up >10 years. We selected 1,679 SNPs belonging to 251 inflammatory genes. The association of SNPs with risk-of-recurrence and risk-of-progression was assessed using Cox regression single-marker (SMM) and multimarker methods (MMM) Bayes A and Bayesian LASSO. Discriminative abilities of the models were calculated using the c index and validated with bootstrap cross-validation procedures. Results: While no SNP was found to be associated with risk-of-recurrence using SMM, three SNPs in TNIP1, CD5, and JAK3 showed very strong association with posterior probabilities >90% using MMM. Regarding risk-of-progression, one SNP in CD3G was significantly associated using SMM (HR, 2.69; P - 1.55 X 10(-5)) and two SNPs in MASP1 and AIRE, showed a posterior probability >= 80% with MMM. Validated discriminative abilities of the models without and with the SNPs were 58.4% versus 60.5% and 72.1% versus 72.8% for risk-of-recurrence and risk-of-progression, respectively. Conclusions: Using innovative analytic approaches, we demonstrated that SNPs in inflammatory-related genes were associated with NMIBC prognosis and that they improve the discriminative ability of prognostic clinical models for NMIBC. Impact: This study provides proof of concept for the joint effect of genetic variants in improving the discriminative ability of clinical prognostic models. The approach may be extended to other diseases. (C) 2016 AACR. C1 [Masson-Lecomte, Alexandra; Lopez de Maturana, Evangelina; Rava, Marta; Marquez, Mirari; Malats, Nuria] Spanish Natl Canc Res Ctr CNIO, Genet & Mol Epidemiol Grp, C Melchor Fernandez Almagro 3, Madrid 28029, Spain. [Masson-Lecomte, Alexandra] Paris Est Creteil Univ, Dept Urol, Henri Mondor Acad Hosp, Creteil, France. [Goddard, Michael E.] Agribio, Biosci Res Div, Dept Environm & Primary Ind, Bundoora, Vic, Australia. [Goddard, Michael E.] Univ Melbourne, Dept Food & Agr Syst, Melbourne, Vic, Australia. [Gonzalez-Neira, Anna] Spanish Natl Canc Res Ctr CNIO, Human Genotyping CEGEN Unit, Madrid, Spain. [Carrato, Alfredo] Hosp Univ Ramon y Cajal, Serv Oncol, Madrid, Spain. [Carrato, Alfredo] Hosp Univ Elche, Serv Oncol, Elche, Spain. [Tardon, Adonina] Univ Oviedo, Dept Prevent Med, Oviedo, Spain. [Lloreta, Josep] Hosp del Mar, Inst Municipal Invest Med, Barcelona, Spain. [Lloreta, Josep] Hosp del Mar, Dept Patol, IMAS, Barcelona, Spain. [Garcia-Closas, Montserrat] Inst Canc Res, Div Genet & Epidemiol, London, England. [Silverman, Debra; Rothman, Nathaniel; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Kogevinas, Manolis] Ctr Res Environm Epidemiol CREAL, Barcelona, Spain. [Kogevinas, Manolis] Hosp del Mar, Inst Municipal Invest Med, Barcelona, Spain. [Allory, Yves] Paris Est Creteil Univ, Henri Mondor Acad Hosp, Dept Pathol, INSERM, Paris, France. [Real, Francisco X.] Spanish Natl Canc Res Ctr CNIO, Epithelial Carcinogenesis Grp, Madrid, Spain. [Real, Francisco X.] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona, Spain. RP Malats, N (reprint author), Spanish Natl Canc Res Ctr CNIO, Genet & Mol Epidemiol Grp, C Melchor Fernandez Almagro 3, Madrid 28029, Spain. EM nmalats@cnio.es RI Kogevinas, Manolis/C-3918-2017; OI Malats, Nuria/0000-0003-2538-3784 FU Fondo de Investigaciones Sanitarias (FIS) [PI00-0745, PI05-1436, PI06-1614]; Red Tematica de Investigacion Cooperativa en Cancer (RTICC) [RD12/0036/0050, RD12/0036/0034]; Instituto de Salud Carlos III; Asociacion Espanola Contra el Cancer (AECC), Spain; EU-7FPHEALTH-TransBioBC [601933]; Intramural Research Program of the Division of Cancer Epidemiology and Genetics; National Cancer Institute (NCI) [NO2-CP-11015]; European Urological Scholarship Program for Research (EUSP) [S-01-2013]; Instituto de Salud Carlos III, Spain; [EU-FP7-HEALTH-F2-2008-201663-UROMOL] FX The project was funded partially by Fondo de Investigaciones Sanitarias (FIS, #PI00-0745, #PI05-1436, and #PI06-1614) and Red Tematica de Investigacion Cooperativa en Cancer (RTICC, #RD12/0036/0050 and #RD12/0036/0034), Instituto de Salud Carlos III; and Asociacion Espanola Contra el Cancer (AECC), Spain; and EU-FP7-HEALTH-F2-2008-201663-UROMOL and EU-7FPHEALTH-TransBioBC #601933. D. Silverman, N. Rothman, and S.J. Chanock received funding from the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (contract NCI NO2-CP-11015). A. Masson-Lecomte was awarded with a fellowship of the European Urological Scholarship Program for Research (EUSP Scholarship S-01-2013) and E. Lopez de Maturana with a Sara Borrell fellowship, Instituto de Salud Carlos III, Spain. NR 50 TC 0 Z9 0 U1 0 U2 0 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1144 EP 1150 DI 10.1158/1055-9965.EPI-15-0894 PG 7 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700017 PM 27197286 ER PT J AU Childs, EJ Chaffee, KG Gallinger, S Syngal, S Schwartz, AG Cote, ML Bondy, ML Hruban, RH Chanock, SJ Hoover, RN Fuchs, CS Rider, DN Amundadottir, LT Stolzenberg-Solomon, R Wolpin, BM Risch, HA Goggins, MG Petersen, GM Klein, AP AF Childs, Erica J. Chaffee, Kari G. Gallinger, Steven Syngal, Sapna Schwartz, Ann G. Cote, Michele L. Bondy, Melissa L. Hruban, Ralph H. Chanock, Stephen J. Hoover, Robert N. Fuchs, Charles S. Rider, David N. Amundadottir, Laufey T. Stolzenberg-Solomon, Rachael Wolpin, Brian M. Risch, Harvey A. Goggins, Michael G. Petersen, Gloria M. Klein, Alison P. TI Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study SO CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION LA English DT Article ID GENOME-WIDE ASSOCIATION; FAMILY-HISTORY; ONSET; LOCI; EPIDEMIOLOGY; CONSORTIUM; MUTATIONS; KINDREDS; GENE AB Individuals from pancreatic cancer families are at increased risk, not only of pancreatic cancer, but also of melanoma, breast, ovarian, and colon cancers. While some of the increased risk may be due to mutations in high-penetrance genes (i.e., BRCA2, PALB2, ATM, p16/CDKN2A or DNA mismatch repair genes), common genetic variants may also be involved. In a high-risk population of cases with either a family history of pancreatic cancer or early-onset pancreatic cancer (diagnosis before the age of 50 years), we examined the role of genetic variants previously associated with risk of pancreatic, breast, ovarian, or prostate cancer. We genotyped 985 cases (79 early-onset cases, 906 cases with a family history of pancreatic cancer) and 877 controls for 215,389 SNPs using the iSelect Collaborative Oncological Gene-Environment Study (iCOGS) array with custom content. Logistic regression was performed using a log-linear additive model. We replicated several previously reported pancreatic cancer susceptibility loci, including recently identified variants on 2p13.3 and 7p13 (2p13.3, rs1486134: OR = 1.36; 95% CI, 1.13-1.63; P = 9.29 x 10(-4); 7p13, rs17688601: OR = 0.76; 95% CI, 0.63-0.93; P = 6.59 x 10(-3)). For the replicated loci, the magnitude of association observed in these high-risk patients was similar to that observed in studies of unselected patients. In addition to the established pancreatic cancer loci, we also found suggestive evidence of association (P < 5 < 10(-5)) to pancreatic cancer for SNPs atHDAC9(7p21.1) and COL6A2 (21q22.3). Even in high-risk populations, common variants influence pancreatic cancer susceptibility. (C) 2016 AACR. C1 [Childs, Erica J.; Hruban, Ralph H.] Johns Hopkins Sch Med, Dept Oncol, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD USA. [Chaffee, Kari G.; Rider, David N.; Petersen, Gloria M.] Mayo Clin, Dept Hlth Sci Res, Coll Med, Rochester, MN USA. [Gallinger, Steven] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada. [Syngal, Sapna] Brigham & Womens Hosp, Dana Farber Canc Inst, Div Populat Sci, 75 Francis St, Boston, MA 02115 USA. [Syngal, Sapna] Brigham & Womens Hosp, Div Gastroenterol, Boston, MA 02115 USA. [Schwartz, Ann G.; Cote, Michele L.] Karmanos Canc Inst, Dept Oncol, Detroit, MI USA. [Schwartz, Ann G.; Cote, Michele L.] Wayne State Univ, Detroit, MI USA. [Bondy, Melissa L.] Baylor Coll Med, Dan L Duncan Canc Ctr, Houston, TX 77030 USA. [Hruban, Ralph H.; Goggins, Michael G.; Klein, Alison P.] Johns Hopkins Sch Med, Dept Pathol, Sol Goldman Pancreat Canc Res Ctr, Baltimore, MD USA. [Chanock, Stephen J.; Hoover, Robert N.; Amundadottir, Laufey T.; Stolzenberg-Solomon, Rachael] NCI, Div Canc Epidemiol & Genet, NIH, US Dept HHS, Bethesda, MD 20892 USA. [Fuchs, Charles S.; Wolpin, Brian M.] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA. [Fuchs, Charles S.] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA. [Fuchs, Charles S.; Wolpin, Brian M.] Harvard Med Sch, Boston, MA USA. [Wolpin, Brian M.] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA. [Risch, Harvey A.] Yale Sch Publ Hlth, Dept Chron Dis Epidemiol, New Haven, CT USA. RP Klein, AP (reprint author), Johns Hopkins Sch Med, 354 CRB2,1550 Orleans St, Baltimore, MD 21231 USA. EM aklein1@jhmi.edu RI Gallinger, Steven/E-4575-2013 FU NIH [R01 CA97075, R01 CA154823, K07 CA140790]; NIH Specialized Programs of Research Excellence [P50 CA062924, P50 CA102701]; Lustgarten Foundation for Pancreatic Cancer Research; Michael Rolfe Foundation; Sol Goldman Pancreatic Cancer Research Center; European Community [223175 (HEALTHF22009223175)]; Cancer Research UK [C1287/A10710] FX This work was supported by NIH grants R01 CA97075 (to K.G. Chaffee, S. Gallinger, S. Syngal, A.G. Schwartz, M.L. Cote, R.H. Hruban, D.N. Rider, M.G. Goggins, G.M. Petersen, and A.P. Klein) and R01 CA154823 (to E.J. Childs, K.G. Chaffee, S. Gallinger, H.A. Risch, M.G. Goggins, G.M. Petersen, and A.P. Klein) and NIH Specialized Programs of Research Excellence P50 CA062924 (to R.H. Hruban, M.G. Goggins, A.P. Klein) and P50 CA102701 (K.G. Chaffee, D.N. Rider, G.M. Petersen), the Lustgarten Foundation for Pancreatic Cancer Research (to R.H. Hruban, M.G. Goggins, A.P. Klein), the Michael Rolfe Foundation (to R.H. Hruban, M.G. Goggins), Susan Wojcicki and Dennis Troper (to R.H. Hruban, M.G. Goggins, A.P. Klein), and the Sol Goldman Pancreatic Cancer Research Center (to R.H. Hruban, M.G. Goggins, A.P. Klein). B.M. Wolpin was supported by NIH under grant no. K07 CA140790. The development of the iCOGS array was supported by the European Community's Seventh Framework Programme under grant agreement 223175 (HEALTHF22009223175) and Cancer Research UK (C1287/A10710). NR 25 TC 1 Z9 1 U1 1 U2 2 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1055-9965 EI 1538-7755 J9 CANCER EPIDEM BIOMAR JI Cancer Epidemiol. Biomarkers Prev. PD JUL PY 2016 VL 25 IS 7 BP 1185 EP 1191 DI 10.1158/1055-9965.EPI-15-1217 PG 7 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA DR7IH UT WOS:000380072700022 PM 27197284 ER PT J AU Colli, LM Machiela, MJ Myers, TA Jessop, L Yu, K Chanock, SJ AF Colli, Leandro M. Machiela, Mitchell J. Myers, Timothy A. Jessop, Lea Yu, Kai Chanock, Stephen J. TI Burden of Nonsynonymous Mutations among TCGA Cancers and Candidate Immune Checkpoint Inhibitor Responses SO CANCER RESEARCH LA English DT Article ID CELL LUNG-CANCER; IPILIMUMAB PLUS DACARBAZINE; METASTATIC MELANOMA; CTLA-4 BLOCKADE; UNTREATED MELANOMA; PROSTATE-CANCER; PD-1 BLOCKADE; NIVOLUMAB; LANDSCAPE; IMMUNOTHERAPY AB Immune checkpoint inhibitor treatment represents a promising approach toward treating cancer and has been shown to be effective in a subset of melanoma, non-small cell lung cancer (NSCLC), and kidney cancers. Recent studies have suggested that the number of nonsynonymous mutations (NsM) can be used to select melanoma and NSCLC patients most likely to benefit from checkpoint inhibitor treatment. It is hypothesized that a higher burden of NsM generates novel epitopes and gene products, detected by the immune system as foreign. We conducted an assessment of NsM across 7,757 tumor samples drawn from 26 cancers sequenced in the Cancer Genome Atlas (TCGA) Project to estimate the subset of cancers (both types and fractions thereof) that fit the profile suggested for melanoma and NSCLC. An additional independent set of 613 tumors drawn from 5 cancers were analyzed for replication. An analysis of the receiver operating characteristic curves of published data on checkpoint inhibitor response in melanoma and NSCLC data estimates a cutoff of 192 NsM with 74% sensitivity and 59.3% specificity to discriminate potential clinical benefit. Across the 7,757 samples of TCGA, 16.2% displayed an NsM count that exceeded the threshold of 192. It is notable that more than 30% of bladder, colon, gastric, and endometrial cancers have NsM counts above 192, which was also confirmed in melanoma and NSCLC. Our data could inform the prioritization of tumor types (and subtypes) for possible clinical trials to investigate further indications for effective use of immune checkpoint inhibitors, particularly in adult cancers. (C) 2016 AACR. C1 [Colli, Leandro M.; Machiela, Mitchell J.; Myers, Timothy A.; Jessop, Lea; Yu, Kai; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. RP Chanock, SJ (reprint author), NCI, NIH, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. EM chanocks@mail.nih.gov FU Intramural NIH HHS [Z01 CP010169-06] NR 42 TC 2 Z9 2 U1 0 U2 3 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 0008-5472 EI 1538-7445 J9 CANCER RES JI Cancer Res. PD JUL 1 PY 2016 VL 76 IS 13 BP 3767 EP 3772 DI 10.1158/0008-5472.CAN-16-0170 PG 6 WC Oncology SC Oncology GA DR7HU UT WOS:000380071400014 PM 27197178 ER PT J AU Yang, SH He, PJ Wang, J Schetter, A Tang, W Funamizu, N Yanaga, K Uwagawa, T Satoskar, AR Gaedcke, J Bernhardt, M Ghadimi, BM Gaida, MM Bergmann, F Werner, J Ried, T Hanna, N Alexander, HR Hussain, SP AF Yang, Shouhui He, Peijun Wang, Jian Schetter, Aaron Tang, Wei Funamizu, Naotake Yanaga, Katsuhiko Uwagawa, Tadashi Satoskar, Abhay R. Gaedcke, Jochen Bernhardt, Markus Ghadimi, B. Michael Gaida, Matthias M. Bergmann, Frank Werner, Jens Ried, Thomas Hanna, Nader Alexander, H. Richard Hussain, S. Perwez TI A Novel MIF Signaling Pathway Drives the Malignant Character of Pancreatic Cancer by Targeting NR3C2 SO CANCER RESEARCH LA English DT Article ID MIGRATION-INHIBITORY FACTOR; DUCTAL ADENOCARCINOMA; TUMOR; INFLAMMATION; EXPRESSION; TUMORIGENESIS; CD74; LINK; AKT AB Pancreatic cancers with aberrant expression of macrophage migration inhibitory factor (MIF) are particularly aggressive. To identify key signaling pathways that drive disease aggressiveness in tumors with high MIF expression, we analyzed the expression of coding and noncoding genes in high and low MIF-expressing tumors in multiple cohorts of pancreatic ductal adenocarcinoma (PDAC) patients. The key genes and pathways identified were linked to patient survival and were mechanistically, functionally, and clinically characterized using cell lines, a genetically engineered mouse model, and PDAC patient cohorts. Here, we report evidence of a novel MIF-driven signaling pathway that inhibits the orphan nuclear receptor NR3C2, a previously undescribed tumor suppressor that impacts aggressiveness and survival in PDAC. Mechanistically, MIF upregulated miR-301b that targeted NR3C2 and suppressed its expression. PDAC tumors expressing high levels of MIF displayed elevated levels of miR-301b and reduced levels of NR3C2. In addition, reduced levels of NR3C2 expression correlated with poorer survival in multiple independent cohorts of PDAC patients. Functional analysis showed that NR3C2 inhibited epithelial-to-mesenchymal transition and enhanced sensitivity to the gemcitabine, a chemotherapeutic drug used in PDAC standard of care. Furthermore, genetic deletion of MIF disrupted a MIF-mir-301b-NR3C2 signaling axis, reducing metastasis and prolonging survival in a genetically engineered mouse model of PDAC. Taken together, our results offer a preclinical proof of principle for candidate therapies to target a newly described MIF-miR-301b-NR3C2 signaling axis for PDAC management. (C) 2016 AACR. C1 [Yang, Shouhui; He, Peijun; Wang, Jian; Hussain, S. Perwez] NCI, Pancreat Canc Unit, Bethesda, MD 20892 USA. [Yang, Shouhui; He, Peijun; Wang, Jian; Schetter, Aaron; Tang, Wei; Hussain, S. Perwez] NCI, Lab Human Carcinogenesis, Ctr Canc Res, Bethesda, MD 20892 USA. [Funamizu, Naotake; Yanaga, Katsuhiko; Uwagawa, Tadashi] Jikei Univ, Sch Med, Dept Surg, Tokyo, Japan. [Satoskar, Abhay R.] Ohio State Univ, Dept Pathol & Microbiol, Columbus, OH 43210 USA. [Gaedcke, Jochen; Bernhardt, Markus; Ghadimi, B. Michael] Univ Med, Dept Gen Visceral & Pediat Surg, Gottingen, Germany. [Gaida, Matthias M.; Bergmann, Frank] Heidelberg Univ, Inst Pathol, Heidelberg, Germany. [Werner, Jens] Univ Munich, Dept Surg, Munich, Germany. [Ried, Thomas] NCI, Genet Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [Hanna, Nader; Alexander, H. Richard] Univ Maryland, Sch Med, Div Surg Oncol, Baltimore, MD 21201 USA. [Schetter, Aaron] US FDA, 10903 New Hampshire Ave, Silver Spring, MD USA. RP Hussain, SP (reprint author), NCI, Pancreat Canc Unit, Human Carcinogenesis Lab, NIH, Bldg 37,Room 3044B,37 Convent Dr, Bethesda, MD 20892 USA. EM hussainp@mail.nih.gov FU Intramural NIH HHS [ZIA BC011162-01, ZIA BC011162-02, Z99 CA999999] NR 30 TC 4 Z9 4 U1 4 U2 7 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 0008-5472 EI 1538-7445 J9 CANCER RES JI Cancer Res. PD JUL 1 PY 2016 VL 76 IS 13 BP 3838 EP 3850 DI 10.1158/0008-5472.CAN-15-2841 PG 13 WC Oncology SC Oncology GA DR7HU UT WOS:000380071400020 PM 27197190 ER PT J AU Leonard, T Powell-Wiley, TM Ayers, C Murdoch, JC Yin, WY Pruitt, SL AF Leonard, Tammy Powell-Wiley, Tiffany M. Ayers, Colby Murdoch, James C. Yin, Wenyuan Pruitt, Sandi L. TI Property Values as a Measure of Neighborhoods An Application of Hedonic Price Theory SO EPIDEMIOLOGY LA English DT Article ID HOUSE PRICES; QUALITY; HEALTH; SPECIFICATION; REGRESSIONS; ATTRIBUTES; MARKETS; MODELS AB Background: Researchers measuring relationships between neighborhoods and health have begun using property appraisal data as a source of information about neighborhoods. Economists have developed a rich tool kit to understand how neighborhood characteristics are quantified in appraisal values. This tool kit principally relies on hedonic (implicit) price models and has much to offer regarding the interpretation and operationalization of property appraisal data-derived neighborhood measures, which goes beyond the use of appraisal data as a measure of neighborhood socioeconomic status. Methods: We develop a theoretically informed hedonic-based neighborhood measure using residuals of a hedonic price regression applied to appraisal data in a single metropolitan area. We describe its characteristics, reliability in different types of neighborhoods, and correlation with other neighborhood measures (i.e., raw neighborhood appraisal values, census block group poverty, and observed property characteristics). We examine the association between all neighborhood measures and body mass index. Results: The hedonic-based neighborhood measure was correlated in the expected direction with block group poverty rate and observed property characteristics. The neighborhood measure and average raw neighborhood appraisal value, but not census block group poverty, were associated with individual body mass index. Conclusion: We draw theoretically consistent methodology from the economics literature on hedonic price models to demonstrate how to leverage the implicit valuation of neighborhoods contained in publicly available appraisal data. Consistent measurement and application of the hedonic-based neighborhood measures in epidemiology will improve understanding of the relationships between neighborhoods and health. Researchers should proceed with a careful use of appraisal values utilizing theoretically informed methods such as this one. C1 [Leonard, Tammy; Murdoch, James C.; Yin, Wenyuan] Univ Dallas, Dept Econ, 1845 E Northgate Dr, Irving, TX 75062 USA. [Powell-Wiley, Tiffany M.] NHLBI, Cardiovasc & Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Powell-Wiley, Tiffany M.] NCI, Appl Res Program, Div Canc Control & Populat Sci, Rockville, MD USA. [Ayers, Colby] Univ Texas Southwestern Med Ctr, Dept Med, Div Cardiol, Dallas, TX USA. [Pruitt, Sandi L.] Univ Texas Southwestern Med Ctr, Dept Clin Sci, Dallas, TX USA. [Pruitt, Sandi L.] Harold C Simmons Comprehens Canc Ctr, Dallas, TX USA. RP Leonard, T (reprint author), Univ Dallas, Dept Econ, 1845 E Northgate Dr, Irving, TX 75062 USA. EM TLeonard@udallas.edu FU National Science Foundation [NSF/SES-0827350]; Division of Intramural Research of the National Heart, Lung, and Blood Institute at the National Institutes of Health FX This study was supported by the National Science Foundation (NSF/SES-0827350). Funding support for Dr. Powell-Wiley is provided by the Division of Intramural Research of the National Heart, Lung, and Blood Institute at the National Institutes of Health. NR 39 TC 1 Z9 1 U1 5 U2 7 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1044-3983 EI 1531-5487 J9 EPIDEMIOLOGY JI Epidemiology PD JUL PY 2016 VL 27 IS 4 BP 518 EP 524 DI 10.1097/EDE.0000000000000470 PG 7 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA DR4BX UT WOS:000379847600015 PM 26928708 ER PT J AU Greischar, MA Mideo, N Read, AF Bjornstad, ON AF Greischar, Megan A. Mideo, Nicole Read, Andrew F. Bjornstad, Ottar N. TI Predicting optimal transmission investment in malaria parasites SO EVOLUTION LA English DT Article DE Coinfection; malaria; reproductive restraint; transmission investment; virulence ID PLASMODIUM-FALCIPARUM GAMETOCYTES; WITHIN-HOST COMPETITION; REPRODUCTIVE RESTRAINT; MOSQUITO INFECTION; EVOLUTION; DYNAMICS; SEX; SEQUESTRATION; SURVIVAL; CHABAUDI AB In vertebrate hosts, malaria parasites face a tradeoff between replicating and the production of transmission stages that can be passed onto mosquitoes. This tradeoff is analogous to growth-reproduction tradeoffs in multicellular organisms. We use a mathematical model tailored to the life cycle and dynamics of malaria parasites to identify allocation strategies that maximize cumulative transmission potential to mosquitoes. We show that plastic strategies can substantially outperform fixed allocation because parasites can achieve greater fitness by investing in proliferation early and delaying the production of transmission stages. Parasites should further benefit from restraining transmission investment later in infection, because such a strategy can help maintain parasite numbers in the face of resource depletion. Early allocation decisions are predicted to have the greatest impact on parasite fitness. If the immune response saturates as parasite numbers increase, parasites should benefit from even longer delays prior to transmission investment. The presence of a competing strain selects for consistently lower levels of transmission investment and dramatically increased exploitation of the red blood cell resource. While we provide a detailed analysis of tradeoffs pertaining to malaria life history, our approach for identifying optimal plastic allocation strategies may be broadly applicable. C1 [Greischar, Megan A.; Read, Andrew F.; Bjornstad, Ottar N.] Penn State Univ, Dept Entomol, Ctr Infect Dis Dynam, University Pk, PA 16802 USA. [Greischar, Megan A.; Read, Andrew F.; Bjornstad, Ottar N.] Penn State Univ, Dept Biol, Ctr Infect Dis Dynam, University Pk, PA 16802 USA. [Greischar, Megan A.; Mideo, Nicole] Univ Toronto, Dept Ecol & Evolutionary Biol, Toronto, ON M5S 3B2, Canada. [Read, Andrew F.; Bjornstad, Ottar N.] NIH, Fogarty Int Ctr, Bethesda, MD 20892 USA. RP Greischar, MA (reprint author), Penn State Univ, Dept Entomol, Ctr Infect Dis Dynam, University Pk, PA 16802 USA.; Greischar, MA (reprint author), Penn State Univ, Dept Biol, Ctr Infect Dis Dynam, University Pk, PA 16802 USA.; Greischar, MA (reprint author), Univ Toronto, Dept Ecol & Evolutionary Biol, Toronto, ON M5S 3B2, Canada. EM megan.greischar@utoronto.ca FU National Institute of General Medical Sciences, NIH [R01GM089932]; RAPIDD program of the Science & Technology Directorate, Department of Homeland Security; Fogarty International Center, National Institutes of Health; Bill and Melinda Gates Foundation; Human Frontiers Science Program [RGP0046/2013]; Natural Sciences and Engineering Research Council of Canada FX We thank David Kennedy, Sarah Reece, Laura Pollitt, Thomas Platt, and Tsukushi Kamiya for useful discussion. Three anonymous reviewers provided valuable criticism. William Nelson gave helpful advice on streamlining the optimizations. We also thank members of the Research and Policy in Infectious Disease Dynamics Program of the Science and Technology Directorate, Department of Homeland Security, and the Fogarty International Center, National Institutes of Health (NIH), for stimulating discussion. This study was funded by the National Institute of General Medical Sciences, NIH grants R01GM089932 (A.F.R.), the RAPIDD program of the Science & Technology Directorate, Department of Homeland Security and the Fogarty International Center, National Institutes of Health (O.N.B., A.F.R), the Bill and Melinda Gates Foundation (O.N.B.), the Human Frontiers Science Program (RGP0046/2013, N.M.), and the Natural Sciences and Engineering Research Council of Canada (N.M.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the Fogarty International Center, the National Institute of General Medical Sciences, the National Institutes of Health, or the Gates Foundation. We declare no conflicts of interest. NR 68 TC 0 Z9 0 U1 1 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0014-3820 EI 1558-5646 J9 EVOLUTION JI Evolution PD JUL PY 2016 VL 70 IS 7 BP 1542 EP 1558 DI 10.1111/evo.12969 PG 17 WC Ecology; Evolutionary Biology; Genetics & Heredity SC Environmental Sciences & Ecology; Evolutionary Biology; Genetics & Heredity GA DR6PG UT WOS:000380023200010 PM 27271841 ER PT J AU Styer, AK Luke, B Vitek, W Christianson, MS Baker, VL Christy, AY Polotsky, AJ AF Styer, Aaron K. Luke, Barbara Vitek, Wendy Christianson, Mindy S. Baker, Valerie L. Christy, Alicia Y. Polotsky, Alex J. TI Factors associated with the use of elective single-embryo transfer and pregnancy outcomes in the United States, 2004-2012 SO FERTILITY AND STERILITY LA English DT Article; Proceedings Paper CT 71st Annual Meeting of the American-Society-for-Reproductive-Medicine CY OCT 17-21, 2015 CL Baltimore, MD SP Amer Soc Reprod Med DE Assisted reproductive technology; elective single-embryo transfer; in vitro fertilization; multiple pregnancy ID IN-VITRO FERTILIZATION; ASSISTED REPRODUCTIVE TECHNOLOGY; MULTIPLE BIRTHS; PERINATAL OUTCOMES; LIVE-BIRTH; TRANSFER POLICY; TRANSFER ESET; NUMBER; RATES; CRYOPRESERVATION AB Objective: To evaluate factors associated with elective single-embryo transfer (eSET) utilization and its effect on assisted reproductive technology outcomes in the United States. Design: Historical cohort. Setting: Not applicable. Patient(s): Fresh IVF cycles of women aged 18-37 years using autologous oocytes with either one (SET) or two (double-embryo transfer [DET]) embryos transferred and reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System between 2004 and 2012. Cycles were categorized into four groups with ([+]) or without ([-]) supernumerary embryos cryopreserved. The SET group with embryos cryopreserved was designated as eSET. Intervention(s): None. Main Outcomes Measure(s): The likelihood of eSET utilization, live birth, and singleton non-low birth weight term live birth, modeled using logistic regression. Presented as adjusted odds ratios (aORs) and 95% confidence intervals (CIs). Result(s): The study included 263,375 cycles (21,917 SET[-] cryopreservation, 20,996 SET[+] cryopreservation, 103,371 DET[-] cryopreservation, and 117,091 DET[+] cryopreservation). The utilization of eSET (SET[+] cryopreservation) increased from 1.8% in 2004 to 14.9% in 2012 (aOR 7.66, 95% CI 6.87-8.53) and was more likely with assisted reproductive technology insurance coverage (aOR 1.60, 95% CI 1.54-1.66), Asian race (aOR 1.26, 95% CI 1.20-1.33), uterine factor diagnosis (aOR 1.48, 95% CI 1.37-1.59), retrieval of >= 16 oocytes (aOR 2.85, 95% CI 2.55-3.19), and the transfer of day 5-6 embryos (aOR 4.23, 95% CI 4.06-4.40); eSET was less likely in women aged 35-37 years (aOR 0.76, 95% CI 0.73-0.80). Compared with DET cycles, the likelihood of the ideal outcome, term non-low birth weight singleton live birth, was increased 45%-52% with eSET. Conclusion(s): Expanding insurance coverage for IVF would facilitate the broader use of eSET and may reduce the morbidity and healthcare costs associated with multiple pregnancies. (C) 2016 by American Society for Reproductive Medicine. C1 [Styer, Aaron K.] Massachusetts Gen Hosp, Vincent Dept Obstet & Gynecol, Boston, MA 02114 USA. [Styer, Aaron K.] Harvard Med Sch, Dept Obstet Gynecol & Reprod Biol, Boston, MA USA. [Luke, Barbara] Michigan State Univ, Coll Human Med, Dept Obstet Gynecol & Reprod Biol, E Lansing, MI 48824 USA. [Vitek, Wendy] Univ Rochester, Dept Obstet & Gynecol, Sch Med, Rochester, NY USA. [Christianson, Mindy S.] Johns Hopkins Univ, Sch Med, Dept Obstet & Gynecol, Baltimore, MD 21205 USA. [Baker, Valerie L.] Stanford Univ, Sch Med, Dept Obstet & Gynecol, Palo Alto, CA 94304 USA. [Christy, Alicia Y.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD USA. [Polotsky, Alex J.] Univ Colorado, Sch Med, Dept Obstet & Gynecol, Aurora, CO USA. RP Styer, AK (reprint author), Massachusetts Gen Hosp, Vincent Dept Obstet & Gynecol, Vincent Reprod Med, Yaw 10A,55 Fruit St, Boston, MA 02114 USA.; Styer, AK (reprint author), Massachusetts Gen Hosp, IVF, Yaw 10A,55 Fruit St, Boston, MA 02114 USA. EM astyer@mgh.harvard.edu OI Luke, Barbara/0000-0002-0405-8133 FU NICHD NIH HHS [R25 HD075737] NR 48 TC 1 Z9 1 U1 3 U2 7 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0015-0282 EI 1556-5653 J9 FERTIL STERIL JI Fertil. Steril. PD JUL PY 2016 VL 106 IS 1 BP 80 EP 89 DI 10.1016/j.fertnstert.2016.02.034 PG 10 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA DR7HY UT WOS:000380071800016 PM 26997248 ER PT J AU Jukic, AMZ Upson, K Harmon, QE Baird, DD AF Jukic, Anne Marie Z. Upson, Kristen Harmon, Quaker E. Baird, Donna D. TI Increasing serum 25-hydroxyvitamin D is associated with reduced odds of long menstrual cycles in a cross-sectional study of African American women SO FERTILITY AND STERILITY LA English DT Article DE Ovarian function; ovulation; PCOS; vitamin D ID VITAMIN-D; RISK-FACTORS; LENGTH; DYSMENORRHEA; MICE; REPRODUCTION; DEFICIENCY; FERTILITY; SEVERITY; RECEPTOR AB Objective: To examine the association between serum 25-hydroxyvitamin D [ 25(OH) D] and menstrual cycle length and regularity. Design: Community-based, cross-sectional study of serum 25(OH) D (adjusted for seasonal differences in timing of blood draw) and menstrual cycle length. Women aged 23-34 years reported their gynecologic history. Menstrual cycles were described with four independent categories (normal, short, long, irregular). We used polytomous logistic regression to estimate the association between a doubling of seasonally adjusted 25(OH) D and the odds of each cycle category. Setting: Not applicable. Patient(s): A total of 1,102 African American women. Intervention(s): Not applicable. Main Outcome Measure(s): Self-reported menstrual cycle length over the previous 12 months, excluding women who were using cycle-regulating medications over the entire year. Women who reported that their cycles were "too irregular to estimate'' were classified as having irregular cycles. A typical cycle length of <27 days was considered "short,'' >34 days was "long,'' and 27-34 days was "normal.'' Result(s): The median 25(OH) D level was 14.7 ng/mL (interquartile range, 10.9-19.6 ng/mL). A doubling of 25(OH) D was associated with half the odds of having long menstrual cycles: adjusted odds ratio (aOR) 0.54, 95% confidence interval (CI) 0.32-0.89. 25-Hydroxyvitamin D was not associated with the occurrence of short (aOR 1.03, 95% CI 0.82-1.29) or irregular (aOR 1.46, 95% CI 0.88-2.41) menstrual cycles. Results were robust to several sensitivity analyses. Conclusion(s): These findings suggest that vitamin D status may influence the menstrual cycle and play a role in ovarian function. Further investigation of 25(OH) D and ovarian hormones, and prospective studies of 25(OH) D and cycle length, are needed. (C) 2016 by American Society for Reproductive Medicine. C1 [Jukic, Anne Marie Z.] Yale Ctr Perinatal Pediat & Environm Epidemiol, One Church St,6th Floor, New Haven, CT 06450 USA. [Jukic, Anne Marie Z.; Upson, Kristen; Harmon, Quaker E.; Baird, Donna D.] NIEHS, Epidemiol Branch, Durham, NC USA. RP Jukic, AMZ (reprint author), Yale Ctr Perinatal Pediat & Environm Epidemiol, One Church St,6th Floor, New Haven, CT 06450 USA. EM annemarie.jukic@yale.edu RI Upson, Kristen/D-4504-2017; Baird, Donna/D-5214-2017 OI Upson, Kristen/0000-0001-9598-8776; Baird, Donna/0000-0002-5544-2653 FU Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health (NIH) [R00HD079659]; Intramural Research Program of the NIH, National Institute of Environmental Health Sciences; American Recovery and Reinvestment Act; NIH Office of Dietary Supplements FX Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health (NIH) under award number R00HD079659. This research was supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences, by funds allocated for health research by the American Recovery and Reinvestment Act, and by the NIH Office of Dietary Supplements. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 48 TC 0 Z9 0 U1 1 U2 3 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0015-0282 EI 1556-5653 J9 FERTIL STERIL JI Fertil. Steril. PD JUL PY 2016 VL 106 IS 1 BP 172 EP + DI 10.1016/j.fertnstert.2016.03.004 PG 10 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA DR7HY UT WOS:000380071800029 PM 26997249 ER PT J AU Louis, GMB Sapra, KJ Schisterman, EF Lynch, CD Maisog, JM Grantz, KL Sundaram, R AF Louis, Germaine M. Buck Sapra, Katherine J. Schisterman, Enrique F. Lynch, Courtney D. Maisog, Jose M. Grantz, Katherine L. Sundaram, Rajeshwari TI Lifestyle and pregnancy loss in a contemporary cohort of women recruited before conception: The LIFE Study SO FERTILITY AND STERILITY LA English DT Article DE Caffeine; lifestyle; miscarriage; pregnancy loss; multivitamins ID HUMAN CHORIONIC-GONADOTROPIN; SPONTANEOUS-ABORTION; RISK; MISCARRIAGE; FERTILITY; CONSUMPTION; PLANNERS; CAFFEINE; VITAMIN; HORMONE AB Objective: To estimate pregnancy loss incidence in a contemporary cohort of couples whose lifestyles were measured during sensitive windows of reproduction to identify factors associated with pregnancy loss for the continual refinement of preconception guidance. Design: Prospective cohort with preconception enrollment. Setting: Sixteen counties in Michigan and Texas. Patient(s): Three hundred forty-four couples with a singleton pregnancy followed daily through 7 postconception weeks of gestation. Intervention(s): None. Couples daily recorded use of cigarettes, caffeinated and alcoholic beverages, and multivitamins. Women used fertility monitors for ovulation detection and digital pregnancy tests. Pregnancy loss was denoted by conversion to a negative pregnancy test, onset of menses, or clinical confirmation depending upon gestation. Using proportional hazards regression and accounting for right censoring, we estimated adjusted hazard ratios and 95% confidence intervals (aHR, 95% CI) for couples' lifestyles (cigarette smoking, alcoholic and caffeinated drinks, multivitamins) during three sensitive windows: preconception, early pregnancy, and periconception. Main Outcome Measure(s): Incidence and risk factors for pregnancy loss. Result(s): Ninety-eight of 344 (28%) women with a singleton pregnancy experienced an observed pregnancy loss. In the preconception window, loss was associated with female age >= 35 years (1.96, 1.13-3.38) accounting for couples' ages, women's and men's consumption of >2 daily caffeinated beverages (1.74, 1.07-2.81; and 1.73, 1.10-2.72, respectively), and women's vitamin adherence (0.45, 0.25-0.80). The findings were similar for lifestyle during the early pregnancy and periconception windows. Conclusion(s): Couples' preconception lifestyle factors were associated with pregnancy loss, although women's multivitamin adherence dramatically reduced risk. The findings support continual refinement and implementation of preconception guidance. (C) 2016 by American Society for Reproductive Medicine. C1 [Louis, Germaine M. Buck; Sapra, Katherine J.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Off Director, Rockville, MD USA. [Schisterman, Enrique F.; Grantz, Katherine L.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, Rockville, MD USA. [Lynch, Courtney D.] Ohio State Univ, Coll Med, Dept Obstet & Gynecol, Columbus, OH 43210 USA. [Maisog, Jose M.] Glotech Inc, Lawrenceville, GA USA. [Sundaram, Rajeshwari] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Biostat & Bioinformat Branch, Rockville, MD USA. RP Louis, GMB (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Off Director, Div Intramural Populat Hlth Res, 6100 Execut Blvd,Room 7B03, Rockville, MD 20852 USA. EM louisg@mail.nih.gov OI Sundaram, Rajeshwari/0000-0002-6918-5002; Schisterman, Enrique/0000-0003-3757-641X; Buck Louis, Germaine/0000-0002-1774-4490; Grantz, Katherine/0000-0003-0276-8534 FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development [N01-HD-3-3355, N01-HD-3-3356, N01-HD-3-3358] FX This study was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (contract nos. N01-HD-3-3355, N01-HD-3-3356, and N01-HD-3-3358). NR 36 TC 1 Z9 1 U1 7 U2 14 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0015-0282 EI 1556-5653 J9 FERTIL STERIL JI Fertil. Steril. PD JUL PY 2016 VL 106 IS 1 BP 180 EP 188 DI 10.1016/j.fertnstert.2016.03.009 PG 9 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA DR7HY UT WOS:000380071800030 ER PT J AU Henriquez, S Kohen, P Xu, X Veenstra, TD Munoz, A Palomino, WA Strauss, JF Devoto, L AF Henriquez, Soledad Kohen, Paulina Xu, Xia Veenstra, Timothy D. Munoz, Alex Palomino, Wilder A. Strauss, Jerome F., III Devoto, Luigi TI Estrogen metabolites in human corpus luteum physiology: differential effects on angiogenic activity SO FERTILITY AND STERILITY LA English DT Article DE 2-Methoxyestradiol; 2-methoxyestrone; 16-ketoestradiol; 4-hydroxyestrone; human corpora lutea ID HUMAN CHORIONIC-GONADOTROPIN; GRANULOSA-CELLS; RECEPTOR-ALPHA; GROWTH-FACTOR; PROGESTERONE SYNTHESIS; RHESUS-MONKEY; MESSENGER-RNA; EXPRESSION; 2-METHOXYESTRADIOL; PHASE AB Objective: To determine tissue concentrations of E-2, estrone, P, and estrogensmetabolites (EMs) 2-methoxyestradiol, 2-methoxyestrone, 4-hydroxyestrone, and 16-ketoestradiol in corpus luteum(CL) of different ages, and after hCG administration; and to examine the effects of EMs on vascular endothelial growth factor (VEGF) secretion and angiogenic activity released by cultured luteinizing granulosa cells in the presence and absence of hCG. Design: Experimental study. Setting: University. Patient(s): Thirty-two healthy women of reproductive age. Intervention(s): Corpus luteum was collected at the time of minilaparotomy for tubal sterilization, at varying stages of the luteal phase (LP). Late-LP CL was collected 24 hours after IM administration of 10,000 IU hCG. Granulosa cells were isolated from follicular aspirates obtained from healthy women participating in our IVF program for male factor infertility. Main Outcomes Measure(s): Estrogen metabolite concentrations were determined in CL tissue, and VEGF was assessed in conditioned medium. The angiogenic activity was analyzed by bioassay. Result(s): Concentrations of EMs with proangiogenic activity (16-ketoestradiol and 4-hydroxyestrone) were higher in early and mid-LP CL vs. late-LP CL. These EMs and hCG increased VEGF production and angiogenic activity. Conversely, late-LP CL had significantly higher levels of 2-methoxyestrone and 2-methoxyestradiol, which have antiangiogenic activity. Administration of hCG reduced the production of these EMs. Conclusion(s): Our findings suggest that the EMs are important paracrine modulators of CL function. Administration of hCG increases the production of EMs with proangiogenic activity and reduces the secretion of those EMs with antiangiogenic action, suggesting a novel mechanism by which the late-LP CL is rescued in conception cycles. (C) 2016 by American Society for Reproductive Medicine. C1 [Henriquez, Soledad; Kohen, Paulina; Munoz, Alex; Palomino, Wilder A.; Devoto, Luigi] Inst Maternal & Child Res, Santiago, Chile. [Palomino, Wilder A.; Devoto, Luigi] Univ Chile, San Borja Arriaran Clin Hosp, Fac Med, Dept Obstet & Gynecol, Santiago, Chile. [Xu, Xia] Frederick Natl Lab Canc Res, Biomed Res, Res Technol Program, SAIC Frederick, Frederick, MD USA. [Veenstra, Timothy D.] Maranatha Baptist Univ, Watertown, WI USA. [Strauss, Jerome F., III] Virginia Commonwealth Univ, Sch Med, Dept Obstet & Gynecol, Richmond, VA USA. RP Devoto, L (reprint author), Univ Chile, Inst Maternal & Child Res IDIMI, Fac Med, Santa Rosa 1234, Santiago 6519100, Chile. EM ldevoto@med.uchile.cl FU Fondo Nacional de Desarrollo Cientifico y Tecnologico (CONICYT/FONDECYT) [1140693] FX This work was supported by Fondo Nacional de Desarrollo Cientifico y Tecnologico (CONICYT/FONDECYT) 1140693. NR 34 TC 2 Z9 2 U1 0 U2 1 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0015-0282 EI 1556-5653 J9 FERTIL STERIL JI Fertil. Steril. PD JUL PY 2016 VL 106 IS 1 BP 230 EP + DI 10.1016/j.fertnstert.2016.03.003 PG 9 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA DR7HY UT WOS:000380071800037 PM 26994433 ER PT J AU Ng, BG Shiryaev, SA Rymen, D Eklund, EA Raymond, K Kircher, M Abdenur, JE Alehan, F Midro, AT Bamshad, MJ Barone, R Berry, GT Brumbaugh, JE Buckingham, KJ Clarkson, K Cole, FS O'Connor, S Cooper, GM Van Coster, R Demmer, LA Diogo, L Fay, AJ Ficicioglu, C Fiumara, A Gahl, WA Ganetzky, R Goel, H Harshman, LA He, M Jaeken, J James, PM Katz, D Keldermans, L Kibaek, M Kornberg, AJ Lachlan, K Lam, C Yaplito-Lee, J Nickerson, DA Peters, HL Race, V Regal, L Rush, JS Rutledge, SL Shendure, J Souche, E Sparks, SE Trapane, P Sanchez-Valle, A Vilain, E Vollo, A Waechter, CJ Wang, RY Wolfe, LA Wong, DA Wood, T Yang, AC Washington, U Matthijs, G Freeze, HH AF Ng, Bobby G. Shiryaev, Sergey A. Rymen, Daisy Eklund, Erik A. Raymond, Kimiyo Kircher, Martin Abdenur, Jose E. Alehan, Fusun Midro, Alina T. Bamshad, Michael J. Barone, Rita Berry, Gerard T. Brumbaugh, Jane E. Buckingham, Kati J. Clarkson, Katie Cole, F. Sessions O'Connor, Shawn Cooper, Gregory M. Van Coster, Rudy Demmer, Laurie A. Diogo, Luisa Fay, Alexander J. Ficicioglu, Can Fiumara, Agata Gahl, William A. Ganetzky, Rebecca Goel, Himanshu Harshman, Lyndsay A. He, Miao Jaeken, Jaak James, Philip M. Katz, Daniel Keldermans, Liesbeth Kibaek, Maria Kornberg, Andrew J. Lachlan, Katherine Lam, Christina Yaplito-Lee, Joy Nickerson, Deborah A. Peters, Heidi L. Race, Valerie Regal, Luc Rush, Jeffrey S. Rutledge, S. Lane Shendure, Jay Souche, Erika Sparks, Susan E. Trapane, Pamela Sanchez-Valle, Amarilis Vilain, Eric Vollo, Arve Waechter, Charles J. Wang, Raymond Y. Wolfe, Lynne A. Wong, Derek A. Wood, Tim Yang, Amy C. Washington, Univ Matthijs, Gert Freeze, Hudson H. TI ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients SO HUMAN MUTATION LA English DT Article DE CDG; asparagine-linked glycosylation protein 1; carbohydrate-deficient transferrin; xeno-tetrasaccharide ID GLYCOSYLATION TYPE-IK; ASPARAGINE-LINKED GLYCOSYLATION; CAUSES CONGENITAL-DISORDER; N-GLYCOSYLATION; MANNOSYLTRANSFERASE; MUTATIONS; DEFICIENCY; PATHWAY; ALG2 AB Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a beta 1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation. ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. To date 13 mutations in 18 patients from 14 families have been described with varying degrees of clinical severity. We identified and characterized 39 previously unreported cases of ALG1-CDG from 32 families and add 26 new mutations. Pathogenicity of each mutation was confirmed based on its inability to rescue impaired growth or hypoglycosylation of a standard biomarker in an alg1-deficient yeast strain. Using this approach we could not establish a rank order comparison of biomarker glycosylation and patient phenotype, but we identified mutations with a lethal outcome in the first two years of life. The recently identified protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2, was seen in all 27 patients tested. Our study triples the number of known patients and expands the molecular and clinical correlates of this disorder. (C) 2016 Wiley Periodicals, Inc. C1 [Ng, Bobby G.; Shiryaev, Sergey A.; Washington, Univ; Freeze, Hudson H.] Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA USA. [Rymen, Daisy; Keldermans, Liesbeth; Race, Valerie; Souche, Erika; Matthijs, Gert] Univ Leuven, Ctr Human Genet, Leuven, Belgium. [Rymen, Daisy; Jaeken, Jaak] Univ Hosp Leuven, Ctr Metab Dis, Leuven, Belgium. [Eklund, Erik A.] Lund Univ, Sect Expt Pediat, Dept Clin Sci, Lund, Sweden. [Raymond, Kimiyo] Mayo Clin, Coll Med, Biochem Genet Lab, Rochester, MN USA. [Kircher, Martin; Bamshad, Michael J.; Nickerson, Deborah A.; Shendure, Jay] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA. [Abdenur, Jose E.; Wang, Raymond Y.] Childrens Hosp Orange Cty, Div Metab Disorders, Orange, CA 92668 USA. [Abdenur, Jose E.; Wang, Raymond Y.] Univ Calif Irvine, Dept Pediat, Sch Med, Orange, CA 92668 USA. [Alehan, Fusun] Baskent Univ, Sch Med, Div Pediat Neurol, Ankara, Turkey. [Midro, Alina T.] Med Univ, Dept Clin Genet, Bialystok, Poland. [Bamshad, Michael J.; Buckingham, Kati J.] Univ Washington, Dept Pediat, Seattle, WA 98195 USA. [Barone, Rita] Univ Catania, Pediat Neurol Policlin, Catania, Italy. [Berry, Gerard T.] Harvard Med Sch, Dept Pediat, Boston, MA USA. [Brumbaugh, Jane E.; Harshman, Lyndsay A.; Trapane, Pamela] Univ Iowa, Childrens Hosp, Stead Family Dept Pediat, Iowa City, IA USA. [Clarkson, Katie; Wood, Tim] Greenwood Genet Ctr, Greenwood, SC 29646 USA. [Cole, F. Sessions; O'Connor, Shawn] Washington Univ, Sch Med, Dept Pediat, Div Newborn Med, St Louis, MO 63110 USA. [Cooper, Gregory M.] HudsonAlpha Inst Biotechnol, Huntsville, AL USA. [Van Coster, Rudy] Univ Hosp Gent, Dept Pediat, Div Pediat Neurol & Metab, Ghent, Belgium. [Demmer, Laurie A.] Levine Childrens Hosp, Clin Genet Program, Carolinas Hlth Care, Charlotte, NC USA. [Diogo, Luisa] Ctr Desenvolvimento Crianca Pediat Hosp CHUC, Coimbra, Portugal. [Fay, Alexander J.] Washington Univ, Div Pediat Neurol, St Louis, MO USA. [Ficicioglu, Can; Ganetzky, Rebecca] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Sect Metab Dis,Perelman Sch Med, Philadelphia, PA 19104 USA. [Fiumara, Agata] Univ Catania, Ctr Inherited Metab Dis, Dept Clin & Expt Med, Catania, Italy. [Gahl, William A.; Wolfe, Lynne A.] NIH, Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA. [Gahl, William A.; Wolfe, Lynne A.] NHGRI, NIH, Bethesda, MD 20892 USA. [Goel, Himanshu] Hunter Genet, Waratah, NSW, Australia. [Goel, Himanshu] Univ Newcastle, Sch Med & Publ Hlth, Callaghan, NSW, Australia. [He, Miao] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA. [James, Philip M.] Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA. [Katz, Daniel] Stormont Vail Hlth Care, Pediat Neurol, Topeka, KS USA. [Kibaek, Maria] Odense Univ Hosp, Dept Pediat, Odense, Denmark. [Kornberg, Andrew J.] Royal Childrens Hosp, Dept Neurol, Parkville, Vic, Australia. [Lachlan, Katherine] Univ Southampton, Human Genet & Genom Med, Southampton, Hants, England. [Lachlan, Katherine] Wessex Clin Genet Serv, Southampton, Hants, England. [Lam, Christina] NHGRI, NIH, Bethesda, MD 20892 USA. [Yaplito-Lee, Joy; Peters, Heidi L.] Royal Childrens Hosp, Murdoch Childrens Res Inst, Dept Metab Med, Parkville, Vic, Australia. [Regal, Luc] Univ Hosp Brussels, Dept Pediat Neurol & Metab, Brussels, Belgium. [Rush, Jeffrey S.; Waechter, Charles J.] Univ Kentucky, Coll Med, Dept Mol & Cellular Biochem, Lexington, KY USA. [Rutledge, S. Lane] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA. [Shendure, Jay] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA. [Sparks, Susan E.] Carolinas Healthcare Syst, Charlotte, NC USA. [Sanchez-Valle, Amarilis] Univ S Florida, Div Genet & Metab, Tampa, FL USA. [Vilain, Eric] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA. [Vilain, Eric; Wong, Derek A.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA. [Vollo, Arve] Hosp Ostfold, Dept Pediat, N-1603 Fredrikstad, Norway. [Yang, Amy C.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA. RP Freeze, HH (reprint author), Sanford Childrens Hlth Res Ctr, Human Genet Program, Sanford Burnham Prebys Med Discovery Inst, 10901 N Torrey Pines Rd, La Jolla, CA 92037 USA. EM hudson@sbpdiscovery.org OI Freeze, Hudson/0000-0001-6316-0501; Kircher, Martin/0000-0001-9278-5471 FU Rocket Fund; National Institutes of Health (NIH) [R01DK099551, R01DK55615]; National Human Genome Research Institute; National Heart Lung Blood Institute [1U54HG006493]; NIGMS ERA-Net for Research Programs on Rare Diseases Joint Transnational Call (EURO-CDG) [GM102129, ERARE11-135] FX Contract grant sponsors: The Rocket Fund; National Institutes of Health (NIH) (R01DK099551, R01DK55615); National Human Genome Research Institute; National Heart Lung Blood Institute (1U54HG006493); NIGMS (GM102129) ERA-Net for Research Programs on Rare Diseases Joint Transnational Call 2011 (EURO-CDG) (ERARE11-135). NR 21 TC 3 Z9 3 U1 2 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1059-7794 EI 1098-1004 J9 HUM MUTAT JI Hum. Mutat. PD JUL PY 2016 VL 37 IS 7 BP 653 EP 660 DI 10.1002/humu.22983 PG 8 WC Genetics & Heredity SC Genetics & Heredity GA DR5HN UT WOS:000379934200004 PM 26931382 ER PT J AU Lu, MF Munford, R AF Lu, Mingfang Munford, Robert TI LPS stimulates IgM production invivo without help from non-B cells SO INNATE IMMUNITY LA English DT Article DE B cells; Innate Ab; Lipopolysaccharide; Lymph node; Toll-like receptor 4 ID ANTIGEN-PRESENTING CELLS; GRAM-NEGATIVE BACTERIA; TOLL-LIKE RECEPTORS; CD4(+) T-CELLS; GENETIC-CONTROL; LYMPH-NODES; ANTIBODY-RESPONSES; LIPOPOLYSACCHARIDE; ACTIVATION; LYMPHOCYTES AB Gram-negative bacterial LPS induce murine B-cell activation and innate (polyclonal) Ab production. Mouse B cells express the LPS signaling receptor (TLR4), yet how LPS activates B-cell responses invivo is not known. Can LPS directly stimulate B cells to induce innate Ab production? Is activation of non-B cells also required? To address these questions, we transfused LPS-responsive (Tlr4(+/+)) or non-responsive (Tlr4(-/-)) B cells into LPS-responsive or non-responsive mice. Increased expression of the early activation markers CD69 and CD86 could be induced on transfused Tlr4(-/-) B cells by injecting LPS subcutaneously into Tlr4(+/+) mice, demonstrating indirect activation of B cells by TLR4-responsive non-B cells invivo, but the Tlr4(-/-) B cells did not increase serum IgM levels. In contrast, when Tlr4(-/-) recipients were transfused with Tlr4(+/+) B cells, LPS induced large amounts of serum IgM and LPS could also enhance specific Ab production to a protein that was co-injected with it (adjuvant response). Thus, LPS-exposed non-B cells mediated increased surface expression of early B-cell activation markers, but this response did not predict innate Ab responses or LPS adjuvanticity invivo. Direct stimulation of B cells by LPS via TLR4 was necessary and sufficient to induce B cells to produce Ab invivo. C1 [Lu, Mingfang] Fudan Univ, Sch Basic Med Sci, Dept Immunol, 138 Yi Xue Yuan Rd, Shanghai, Peoples R China. [Lu, Mingfang] Fudan Univ, Res Ctr Aging & Med, 138 Yi Xue Yuan Rd, Shanghai, Peoples R China. [Lu, Mingfang; Munford, Robert] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Lu, MF (reprint author), Fudan Univ, Sch Basic Med Sci, Dept Immunol, 138 Yi Xue Yuan Rd, Shanghai, Peoples R China.; Lu, MF (reprint author), Fudan Univ, Res Ctr Aging & Med, 138 Yi Xue Yuan Rd, Shanghai, Peoples R China. EM mingfanglu@fudan.edu.cn FU NIAID [AI18188]; Division of Intramural Research, NIAID, NIH; Shanghai Committee of Science and Technology [14ZR1401700]; National Natural Science Foundation of China [31570910] FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by grant AI18188 from NIAID to the University of Texas Southwestern Medical Center, Dallas, TX(R.M.), by the Division of Intramural Research, NIAID, NIH(R.M.), by grant 14ZR1401700 from Shanghai Committee of Science and Technology (M.L.) and by grant 31570910 from National Natural Science Foundation of China (M.L.). NR 42 TC 0 Z9 0 U1 4 U2 4 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1753-4259 EI 1753-4267 J9 INNATE IMMUN-LONDON JI Innate Immun. PD JUL PY 2016 VL 22 IS 5 BP 307 EP 315 DI 10.1177/1753425916644675 PG 9 WC Biochemistry & Molecular Biology; Immunology; Medicine, Research & Experimental; Microbiology SC Biochemistry & Molecular Biology; Immunology; Research & Experimental Medicine; Microbiology GA DR3WB UT WOS:000379832200002 PM 27189424 ER PT J AU Fogh, I Lin, K Tiloca, C Rooney, J Gellera, C Diekstra, FP Ratti, A Shatunov, A van Es, MA Proitsi, P Jones, A Sproviero, W Chio, A McLaughlin, RL Soraru, G Corrado, L Stahl, D Del Bo, R Cereda, C Castellotti, B Glass, JD Newhouse, S Dobson, R Smith, BN Topp, S van Rheenen, W Meininger, V Melki, J Morrison, KE Shaw, PJ Leigh, PN Andersen, PM Comi, GP Ticozzi, N Mazzini, L D'Alfonso, S Traynor, BJ Van Damme, P Robberecht, W Brown, RH Landers, JE Hardiman, O Lewis, CM van den Berg, LH Shaw, CE Veldink, JH Silani, V Al-Chalabi, A Powell, J AF Fogh, Isabella Lin, Kuang Tiloca, Cinzia Rooney, James Gellera, Cinzia Diekstra, Frank P. Ratti, Antonia Shatunov, Aleksey van Es, Michael A. Proitsi, Petroula Jones, Ashley Sproviero, William Chio, Adriano McLaughlin, Russell Lewis Soraru, Gianni Corrado, Lucia Stahl, Daniel Del Bo, Roberto Cereda, Cristina Castellotti, Barbara Glass, Jonathan D. Newhouse, Steven Dobson, Richard Smith, Bradley N. Topp, Simon van Rheenen, Wouter Meininger, Vincent Melki, Judith Morrison, Karen E. Shaw, Pamela J. Leigh, P. Nigel Andersen, Peter M. Comi, Giacomo P. Ticozzi, Nicola Mazzini, Letizia D'Alfonso, Sandra Traynor, Bryan J. Van Damme, Philip Robberecht, Wim Brown, Robert H. Landers, John E. Hardiman, Orla Lewis, Cathryn M. van den Berg, Leonard H. Shaw, Christopher E. Veldink, Jan H. Silani, Vincenzo Al-Chalabi, Ammar Powell, John TI Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis SO JAMA NEUROLOGY LA English DT Article ID GENOME-WIDE ASSOCIATION; POPULATION-BASED COHORT; MOTOR-NEURON DISEASE; HEXANUCLEOTIDE REPEAT; ALS; C9ORF72; METAANALYSIS; EXPANSION; DIAGNOSIS; CRITERIA AB IMPORTANCE Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disorder with a poor prognosis and a median survival of 3 years. However, a significant proportion of patients survive more than 10 years from symptom onset. OBJECTIVE To identify gene variants influencing survival in ALS. DESIGN, SETTING, AND PARTICIPANTS This genome-wide association study (GWAS) analyzed survival in data sets from several European countries and the United States that were collected by the Italian Consortium for the Genetics of ALS and the International Consortium on Amyotrophic Lateral Sclerosis Genetics. The study population included 4256 patients with ALS (3125 [73.4%] deceased) with genotype data extended to 7 174 392 variants by imputation analysis. Samples of DNA were collected from January 1, 1993, to December 31, 2009, and analyzed from March 1, 2014, to February 28, 2015. MAIN OUTCOMES AND MEASURES Cox proportional hazards regression under an additive model with adjustment for age at onset, sex, and the first 4 principal components of ancestry, followed bymeta-analysis, were used to analyze data. Survival distributions for the most associated genetic variants were assessed by Kaplan-Meier analysis. RESULTS Among the 4256 patients included in the analysis (2589 male [60.8%] and 1667 female [39.2%]; mean [SD] age at onset, 59 [12] years), the following 2 novel loci were significantly associated with ALS survival: at 10q23 (rs139550538; P = 1.87 x 10(-9)) and in the CAMTA1 gene at 1p36 (rs2412208, P = 3.53 x 10(-8)). At locus 10q23, the adjusted hazard ratio for patients with the rs139550538 AA or AT genotype was 1.61 (95% CI, 1.38-1.89; P = 1.87 x 10(-9)), corresponding to an 8-month reduction in survival compared with TT carriers. For rs2412208 CAMTA1, the adjusted hazard ratio for patients with the GG or GT genotype was 1.17 (95% CI, 1.11-1.24; P = 3.53 x 10(-8)), corresponding to a 4-month reduction in survival compared with TT carriers. CONCLUSIONS AND RELEVANCE This GWAS robustly identified 2 loci at genome-wide levels of significance that influence survival in patients with ALS. Because ALS is a rare disease and prevention is not feasible, treatment that modifies survival is the most realistic strategy. Therefore, identification of modifier genes that might influence ALS survival could improve the understanding of the biology of the disease and suggest biological targets for pharmaceutical intervention. In addition, genetic risk scores for survival could be used as an adjunct to clinical trials to account for the genetic contribution to survival. C1 [Fogh, Isabella; Lin, Kuang; Shatunov, Aleksey; Proitsi, Petroula; Jones, Ashley; Sproviero, William; Smith, Bradley N.; Topp, Simon; Shaw, Christopher E.; Al-Chalabi, Ammar; Powell, John] Kings Coll London, Inst Psychiat Psychol & Neurosci IoPPN, Maurice Wohl Clin Neurosci Inst, Dept Basic & Clin Neurosci, London, England. [Tiloca, Cinzia; Ratti, Antonia; Ticozzi, Nicola; Silani, Vincenzo] IRCCS, Ist Auxol Italiano, Dept Neurol, Milan, Italy. [Tiloca, Cinzia; Ratti, Antonia; Ticozzi, Nicola; Silani, Vincenzo] IRCCS, Ist Auxol Italiano, Neurosci Lab, Milan, Italy. [Rooney, James] Trinity Coll Dublin, Trinity Biomed Sci Inst, Acad Unit Neurol, Dublin, Ireland. [Gellera, Cinzia; Castellotti, Barbara] Fdn IRCCS Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy. [Diekstra, Frank P.; van Es, Michael A.; van Rheenen, Wouter; van den Berg, Leonard H.; Veldink, Jan H.] Univ Utrecht, Med Ctr, Brain Ctr Rudolf Magnus, Dept Neurol & Neurosurg, Utrecht, Netherlands. [Ratti, Antonia; Ticozzi, Nicola; Silani, Vincenzo] Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Tranplantat, Milan, Italy. [Chio, Adriano] Univ Torino, ALS Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy. [Chio, Adriano] Azienda Osped Citta Salute & Sci, Turin, Italy. [McLaughlin, Russell Lewis; Hardiman, Orla] Trinity Coll Dublin, Smurfit Inst Genet, Populat Genet Lab, Dublin, Ireland. [Soraru, Gianni] Univ Padua, Dept Neurosci, Padua, Italy. [Corrado, Lucia; Mazzini, Letizia; D'Alfonso, Sandra] A Avogadro Univ, Interdisciplinary Res Ctr Autoimmune Dis, Dept Hlth Sci, Novara, Italy. [Stahl, Daniel; Newhouse, Steven] Kings Coll London, Dept Biostat, IoPPN, London, England. [Del Bo, Roberto; Comi, Giacomo P.] IRCCS, Fdn Ca Granda, Neurol Unit, Osped Maggiore Policlin, Milan, Italy. [Cereda, Cristina] IRCCS, Mondino Natl Inst, Neurol Fdn, Lab Expt Neurobiol, Pavia, Italy. [Glass, Jonathan D.] Emory Univ, Dept Neurol, Atlanta, GA USA. [Newhouse, Steven; Dobson, Richard] Kings Coll London, IoPPN, Biomed Res Ctr Mental Hlth, NIHR, London, England. [Dobson, Richard] Kings Coll London, NIHR, Biomed Res Unit Dementia, London, England. [Meininger, Vincent] Hop La Pitie Salpetriere, Reseau SLA Sclerose Laterale Ile France, Dept Malad Syst Nerveux, AH HP, Paris, France. [Melki, Judith] INSERM, Unite Mixte Rech 788, Paris, France. [Melki, Judith] Univ Paris 11, Bicetre Hosp, Paris, France. [Morrison, Karen E.] Univ Birmingham, Sch Clin & Expt Med, Coll Med & Dent, Birmingham, England. [Morrison, Karen E.] Univ Hosp Birmingham Natl Hlth Serv Fdn Trust, Div Neurosci, Birmingham, England. [Shaw, Pamela J.] Univ Sheffield, Fac Med Dent & Hlth, Acad Neurol Unit, Dept Neurosci, Sheffield, S Yorkshire, England. [Leigh, P. Nigel] Univ Sussex, Neurol Sect, Trafford Ctr Biomed Res, Brighton & Sussex Med Sch,Div Med, E Sussex, England. [Andersen, Peter M.] Univ Kiel, Inst Clin Mol Biol, Kiel, Germany. [Andersen, Peter M.] Umea Univ, Dept Pharmacol & Clin Neurosci, Umea, Sweden. [Mazzini, Letizia] Maggiore Carita Univ Hosp, ALS Ctr, Dept Neurol, Novara, Italy. [Traynor, Bryan J.] NIH, Neuromuscular Dis Res Sect, Neurogenet Lab, NIA, Bethesda, MD USA. [Van Damme, Philip; Robberecht, Wim] KU Leuven Univ Leuven, Neurobiol Lab, Vesalius Res Ctr, Flanders Inst Biotechnol,Dept Neurosci,Expt Neuro, Leuven, Belgium. [Van Damme, Philip] Univ Hosp, Dept Neurol, Leuven, Belgium. [Brown, Robert H.; Landers, John E.] Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA USA. [Lewis, Cathryn M.] Kings Coll London, Med Res Council Social Genet & Dev Psychiat Ctr, IoPPN Genom & Biomarker Core, Translat Genet Grp, London, England. [Lewis, Cathryn M.] Kings Coll London, Dept Med & Mol Genet, London, England. RP Fogh, I (reprint author), Kings Coll London, Inst Psychiat Psychol & Neurosci, Maurice Wohl Clin Neurosci Inst, James Black Ctr,Dept Basic & Clin Neurosci, 125 Coldharbour Ln, London SE5 9NU, England. EM isabella.fogh@kcl.ac.uk RI Powell, John/G-4412-2011; Lewis, Cathryn/A-5225-2010; Stahl, Daniel/B-9713-2011; CEREDA, CRISTINA/G-8208-2011; Van Damme, Philip/A-6464-2009; Ticozzi, Nicola/K-8094-2016; OI Powell, John/0000-0001-6124-439X; Lewis, Cathryn/0000-0002-8249-8476; Stahl, Daniel/0000-0001-7987-6619; CEREDA, CRISTINA/0000-0001-9571-0862; Van Damme, Philip/0000-0001-6384-0611; Ticozzi, Nicola/0000-0001-5963-7426; Comi, Giacomo/0000-0002-1383-5248; CASTELLOTTI, BARBARA/0000-0002-9098-3041; Hardiman, Orla/0000-0003-2610-1291; McLaughlin, Russell/0000-0003-3915-2135 FU Motor Neurone Disease Association of Great Britain [905-793 6058]; Motor Neurone Disease Association of Northern Ireland; National Institutes for Health Research (NIHR) Biomedical Research Centre for Mental Health at the South London and Maudsley National Health Service Foundation Trust and Institute of Psychiatry, King's College London; NOVALS from the Agenzia Italiana per la Ricerca sulla Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica (SLA-AriSLA); Ministry of Health, Ricerca Finalizzata from the Ministero della Salute [RF-2009-1473856]; Associazione Amici Centro Dino Ferrari; Health Research Board Clinical Fellowship Programme; Ricerca Finalizzata from the Ministero della Salute [RF-2010-2309849]; European Community's Health Seventh Framework Programme [259867]; AriSLA for the Repeat ALS Project; Netherlands Organization for Health Research and Development; Thierry Latran Foundation; Dutch ALS Foundation; Rudolf Magnus Brain Center; Princess Beatrix Fonds; Princess Beatrix Fund Muscle; H. Kersten and M. Kersten Foundation; Netherlands ALS Foundation; Dr van Dijk and the Adessium Foundation; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders and Geneeskundige Stichting Koningin Elisabeth (GSKE); European Research Council under the European's Seventh Framework Programme [340429]; Interuniversity Attraction Poles (IUAP) program of the Belgian Federal Science Policy Office [259867, 278611, P7/16]; Euorpean Community's Seventh Framework Programme [HEALTH-F4-2009-242257]; Fonds Wetenschappelijk Onderzoek-Vlaanderen; Motor Neurone Disease Association of Great Britain; ALS Foundation Netherlands; European Community's Health Seventh Framework Programme; ZonMW; ERA Net for Research on Rare Diseases (PYRAMID); European Union Joint Programme-Neurodegenerative Disease (JPND) research project under the auspices of the Medical Research Council; Motor Neurone Disease Association [3/3]; Wellcome Trust [070122/A/02/Z]; NIHR Dementias and Neurodegenerative Diseases Research Network; NIHR Dementia Biomedical Research Unit at South London and Maudsley National Health Service Foundation Trust and King's College London; NIHR; European Community's Seventh Framework Programme under the Euro-MOTOR project [259867]; National Institute of Neurological and Communicative Diseases and Stroke (NINCDS) [5RO1-NS050557-05]; NINDS American Recovery and Reinvestment Act [RC2-NS070-342]; Angel Fund; ALS Association; P2ALS; Project ALS; Pierre L. de Bourgknecht ALS Research Foundation; ALS Therapy Alliance; NINCDS, National Institutes of Health (NIH) [1R01NS073873]; Intramural Research Program of the NIH, National Institute on Aging [Z01-AG000949-02]; Intramural Research Program of the NINCDS [Z01-AG000949-02]; Motor Neurone Disease Association; STRENGTH, a JPND project; FWO-Flanders; Belgian ALS Ligue; Knut and Alice Wallenberg Foundation; Brain Research Foundation (Sweden); Science Council (Sweden) FX This study was supported by grant 905-793 6058 from the Motor Neurone Disease Association of Great Britain and Northern Ireland and by Emergency Medicine Clinical Trials pilot funding awards from the National Institutes for Health Research (NIHR) Biomedical Research Centre for Mental Health at the South London and Maudsley National Health Service Foundation Trust and Institute of Psychiatry, King's College London (Dr Fogh); by grant NOVALS 2012 from the Agenzia Italiana per la Ricerca sulla Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica (SLA-AriSLA), cofinanced with the contribution of 5 x 1000 Healthcare Research support of the Ministry of Health, Ricerca Finalizzata RF-2009-1473856 from the Ministero della Salute and Associazione Amici Centro Dino Ferrari (Drs Tiloca, Gellera, Ratti, Ticozzi, and Silani); by the Health Research Board Clinical Fellowship Programme (Dr Rooney); by Ricerca Finalizzata RF-2010-2309849 from the Ministero della Salute and FP7/2007-2013 under grant 259867 from the European Community's Health Seventh Framework Programme (Dr Chio); by AriSLA for the Repeat ALS Project 2013 (Dr D'Alfonso); by the Netherlands Organization for Health Research and Development (Drs Diekstra, van Es [Veni Scheme], van Rheenen, van den Berg [Vici Scheme], and Veldink); by the Thierry Latran Foundation, the Dutch ALS Foundation, and a talent fellowship from the Rudolf Magnus Brain Center (Dr van Es); by the Princess Beatrix Fonds, the Princess Beatrix Fund Muscle, H. Kersten and M. Kersten Foundation, the Netherlands ALS Foundation, and Dr van Dijk and the Adessium Foundation (Dutch, Belgian and Swedish genome-wide association study data generation); by grant 259867 from the European Community's Health Seventh Framework Programme; through the E.; von Behring Chair for Neuromuscular and Neurodegenerative Disorders and Geneeskundige Stichting Koningin Elisabeth (GSKE) and grant 340429 from the European Research Council under the European's Seventh Framework Programme (Dr Robberecht); by grants 259867 and 278611 from the Interuniversity Attraction Poles (IUAP) program P7/16 of the Belgian Federal Science Policy Office and the Euorpean Community's Seventh Framework Programme (ADAMS project, HEALTH-F4-2009-242257 and FP7/2007-2013); by a clinical investigatorship from Fonds Wetenschappelijk Onderzoek-Vlaanderen (Dr Van Damme); by the Motor Neurone Disease Association of Great Britain and Northern Ireland, the ALS Foundation Netherlands (project MinE), and the European Community's Health Seventh Framework Programme (Drs Al-Chalabi, Shatunov, Jones, and Sproviero); by ZonMW under the framework of E-Rare-2, the ERA Net for Research on Rare Diseases (PYRAMID); by a European Union Joint Programme-Neurodegenerative Disease (JPND) research project (SOPHIA and STRENGTH under the auspices of the Medical Research Council); by grant 3/3 from the Motor Neurone Disease Association, grant 070122/A/02/Z from the Wellcome Trust and the NIHR Dementias and Neurodegenerative Diseases Research Network (UK National DNA Bank for MND [Motor Neuron Disease] Research); by salary support from the NIHR Dementia Biomedical Research Unit at South London and Maudsley National Health Service Foundation Trust and King's College London (Drs Shaw, Al-Chalabi, Powell, and Stahl); by a senior investigator award from the NIHR (Dr Shaw); by grant 259867 from the European Community's Seventh Framework Programme under the Euro-MOTOR project (Dr Shaw); by the Motor Neurone Disease Association and by STRENGTH, a JPND project (Dr Shaw); by a senior clinical investigatorship from FWO-Flanders and the Belgian ALS Ligue (Dr Van Damme); by the Knut and Alice Wallenberg Foundation, the Brain Research Foundation (Sweden), and the Science Council (Sweden) (Dr Anderson); by grant 5RO1-NS050557-05 from the National Institute of Neurological and Communicative Diseases and Stroke (NINCDS), award RC2-NS070-342 from the NINDS American Recovery and Reinvestment Act, the Angel Fund, the ALS Association, P2ALS, Project ALS, the Pierre L. de Bourgknecht ALS Research Foundation, and the ALS Therapy Alliance (Dr Brown); by grant 1R01NS073873 from the NINCDS, National Institutes of Health (NIH) (Dr Landers); and by grant Z01-AG000949-02 from the Intramural Research Programs of the NIH, National Institute on Aging, and NINCDS (Dr Traynor). NR 34 TC 2 Z9 2 U1 5 U2 20 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6149 EI 2168-6157 J9 JAMA NEUROL JI JAMA Neurol. PD JUL PY 2016 VL 73 IS 7 BP 812 EP 820 DI 10.1001/jamaneurol.2016.1114 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA DQ7XC UT WOS:000379420500013 PM 27244217 ER PT J AU Banks, AZ Mentz, RJ Stebbins, A Mikus, CR Schulte, PJ Fleg, JL Cooper, LS Leifer, ES Badenhop, DT Keteyjan, SJ Pina, IL Kitzman, DW Fiuzat, M Whellan, DJ Kraus, WE O'Connor, CM AF Banks, Adam Z. Mentz, Robert J. Stebbins, Amanda Mikus, Catherine R. Schulte, Phillip J. Fleg, Jerome L. Cooper, Lawton S. Leifer, Eric S. Badenhop, Dalynn T. Keteyjan, Steven J. Pina, Ileana L. Kitzman, Dalane W. Fiuzat, Mona Whellan, David J. Kraus, William E. O'Connor, Christopher M. TI Response to Exercise Training and Outcomes in Patients With Heart Failure and Diabetes Mellitus: Insights From the HF-ACTION Trial SO JOURNAL OF CARDIAC FAILURE LA English DT Article DE Diabetes mellitus; chronic heart failure; functional capacity ID MORTALITY; ASSOCIATION; DYSFUNCTION; RATIONALE; MORBIDITY; REGISTRY; DESIGN; TYPE-1; IMPACT; VOLUME AB Background: In HF-ACTION (Heart Failure: A Controlled Trial Investigating Outcomes of Exercise Training), exercise training improved functional capacity in heart failure with reduced ejection fraction (HFrEF). Previous studies have suggested that diabetes mellitus (DM) may be associated with an attenuated response to exercise. We explored whether DM attenuated the improvement in functional capacity with exercise. Methods and Results: HF-ACTION randomized 2331 patients with HFrEF to medical therapy with or without exercise training over a median follow-up of 2.5 years. We examined the interaction between DM and exercise response measured by change in 6-minute walk distance (6MWD) and peak VO2. We also examined outcomes by DM status. In HF-ACTION, 748 (32%) patients had DM. DM patients had lower functional capacity at baseline and had lower exercise volumes at 3 months. There was a significant interaction between DM status and exercise training for change in peak VO2 (interaction P = .02), but not 6MWD. In the exercise arm, DM patients had a smaller mean increase in peak VO2 than non-DM patients (P = .03). There was no interaction between DM and exercise on clinical outcomes. After risk adjustment, DM was associated with increased all-cause mortality/hospitalization (P = .03). Conclusions: In HF-ACTION, DM was associated with lower baseline functional capacity, an attenuated improvement in peak VO2, and increased hospitalizations. C1 [Banks, Adam Z.; Mentz, Robert J.; Mikus, Catherine R.; Fiuzat, Mona; Kraus, William E.; O'Connor, Christopher M.] Duke Univ, Med Center;, 2530 Erwin Rd,Apt 513, Durham, NC 27705 USA. [Mentz, Robert J.; Stebbins, Amanda; Schulte, Phillip J.; Fiuzat, Mona; O'Connor, Christopher M.] Duke Clin Res Inst, Durham, NC USA. [Fleg, Jerome L.; Cooper, Lawton S.; Leifer, Eric S.] NHLBI, Bethesda, MD USA. [Badenhop, Dalynn T.] Univ Toledo, Med Ctr, Toledo, OH USA. [Keteyjan, Steven J.] Henry Ford Hosp, Detroit, MI USA. [Pina, Ileana L.] Montefiore Einstein Med Ctr, New York, NY USA. [Kitzman, Dalane W.] Wake Forest Sch Med, Winston Salem, NC USA. [Whellan, David J.] Thomas Jefferson Univ, Philadelphia, PA USA. RP Banks, AZ (reprint author), Duke Univ, Med Center;, 2530 Erwin Rd,Apt 513, Durham, NC 27705 USA. EM adam.z.banks@duke.edu FU National Heart, Lung, and Blood Institute FX No extramural funding was used for the present analysis. The HF-ACTION trial was funded by the National Heart, Lung, and Blood Institute. The content of this manuscript is solely the responsibility of the authors and does not necessarily reflect the views of the National Institutes of Health or the Department of Health and Human Services. NR 28 TC 2 Z9 2 U1 1 U2 2 PU CHURCHILL LIVINGSTONE INC MEDICAL PUBLISHERS PI PHILADELPHIA PA CURTIS CENTER, INDEPENDENCE SQUARE WEST, PHILADELPHIA, PA 19106-3399 USA SN 1071-9164 EI 1532-8414 J9 J CARD FAIL JI J. Card. Fail. PD JUL PY 2016 VL 22 IS 7 BP 485 EP 491 DI 10.1016/j.cardfail.2015.12.007 PG 7 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DR6DB UT WOS:000379991200002 PM 26687984 ER PT J AU Pastorelli, C Lansford, JE Kanacri, BPL Malone, PS Di Giunta, L Bacchini, D Bombi, AS Zelli, A Miranda, MC Bornstein, MH Tapanya, S Tirado, LMU Alampay, LP Al-Hassan, SM Chang, L Deater-Deckard, K Dodge, KA Oburu, P Skinner, AT Sorbring, E AF Pastorelli, Concetta Lansford, Jennifer E. Kanacri, Bernadette Paula Luengo Malone, Patrick S. Di Giunta, Laura Bacchini, Dario Bombi, Anna Silvia Zelli, Arnaldo Miranda, Maria Concetta Bornstein, Marc H. Tapanya, Sombat Tirado, Liliana Maria Uribe Alampay, Liane Pena Al-Hassan, Suha M. Chang, Lei Deater-Deckard, Kirby Dodge, Kenneth A. Oburu, Paul Skinner, Ann T. Sorbring, Emma TI Positive parenting and children's prosocial behavior in eight countries SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Prosocial behavior; parenting; cross-national; late childhood ID TRANSACTIONAL MODELS; ACCEPTANCE-REJECTION; PHYSICAL DISCIPLINE; EARLY ADOLESCENCE; PEER ATTACHMENT; PERSPECTIVE; ADJUSTMENT; VALUES; CHILDHOOD; MOTHER AB Background: Research supports the beneficial role of prosocial behaviors on children's adjustment and successful youth development. Empirical studies point to reciprocal relations between negative parenting and children's maladjustment, but reciprocal relations between positive parenting and children's prosocial behavior are understudied. In this study reciprocal relations between two different dimensions of positive parenting (quality of the mother-child relationship and the use of balanced positive discipline) and children's prosocial behavior were examined in Colombia, Italy, Jordan, Kenya, the Philippines, Sweden, Thailand, and the United States. Methods: Mother-child dyads (N = 1105) provided data over 2 years in two waves (Mage of child in wave 1 = 9.31 years, SD = 0.73; 50% female). Results: A model of reciprocal relations between parenting dimensions, but not among parenting and children's prosocial behavior, emerged. In particular, children with higher levels of prosocial behavior at age 9 elicited higher levels of mother-child relationship quality in the following year. Conclusions: Findings yielded similar relations across countries, evidencing that being prosocial in late childhood contributes to some degree to the enhancement of a nurturing and involved mother-child relationship in countries that vary widely on sociodemographic profiles and psychological characteristics. Policy and intervention implications of this study are discussed. C1 [Pastorelli, Concetta; Kanacri, Bernadette Paula Luengo] Univ Roma La Sapienza, Dept Psychol, Rome, Italy. [Lansford, Jennifer E.; Dodge, Kenneth A.; Skinner, Ann T.] Duke Univ, Ctr Child & Family Policy, Durham, NC USA. [Malone, Patrick S.] Univ South Carolina, Dept Psychol, Columbia, SC USA. [Di Giunta, Laura] Univ Roma La Sapienza, Interuniv Ctr Res Genesis & Dev Prosocial & Antis, Rome, Italy. [Bacchini, Dario; Miranda, Maria Concetta] Univ Naples 2, Dept Psychol, Caserta, Italy. [Bombi, Anna Silvia] Univ Roma La Sapienza, Dept Dev & Social Psychol, Rome, Italy. [Zelli, Arnaldo] Foro Italico Univ Rome, Dept Educ Sci, Rome, Italy. [Bornstein, Marc H.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA. [Tapanya, Sombat] Chiang Mai Univ, Dept Psychiat, Fac Med, Chiang Mai, Thailand. [Tirado, Liliana Maria Uribe] Univ San Buenaventura, Fac Psicol, Medellin, Colombia. [Alampay, Liane Pena] Ateneo Manila Univ, Dept Psychol, Metropolitan Manila, Philippines. [Al-Hassan, Suha M.] Hashemite Univ, Dept Special Educ, Zarqa, Jordan. [Chang, Lei] Chinese Univ Hong Kong, Dept Educ Psychol, Hong Kong, Hong Kong, Peoples R China. [Deater-Deckard, Kirby] Virginia Tech, Dept Psychol, Blacksburg, VA USA. [Oburu, Paul] Maseno Univ, Dept Educ Psychol, Maseno, Kenya. [Sorbring, Emma] Univ West, Dept Psychol, Trollhattan, Sweden. RP Pastorelli, C (reprint author), Univ Roma La Sapienza, Via Marsi 78, I-00185 Rome, Italy. EM concetta.pastorelli@uniroma1.it OI ZELLI, Arnaldo/0000-0003-4020-8159 FU Eunice Kennedy Shriver National Institute of Child Health and Human Development [RO1-HD054805]; Fogarty International Center [RO3-TW008141]; National Institute on Drug Abuse [K01DA024116]; National Institute on Drug Abused [2K05 DA015226]; Interdisciplinary Center for Social Conflict and Cohesion Studies, CESOC [CONICYT/FONDAP/15130009]; Intramural Research Program of the NIH/NICHD FX This research has been funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development grant RO1-HD054805 and Fogarty International Center grant RO3-TW008141. Author P.S.M. was supported by grant K01DA024116 from the National Institute on Drug Abuse. Author K.A.D is supported by Senior Scientist award 2K05 DA015226 from the National Institute on Drug Abuse. Author B.P.L.K. was partially funded by the Interdisciplinary Center for Social Conflict and Cohesion Studies, CESOC, GRANT: CONICYT/FONDAP/15130009. This research also was supported by the Intramural Research Program of the NIH/NICHD. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH or NICHD. The authors have declared that they have no competing or potential conflicts of interest. NR 60 TC 1 Z9 1 U1 29 U2 58 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 EI 1469-7610 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD JUL PY 2016 VL 57 IS 7 BP 824 EP 834 DI 10.1111/jcpp.12477 PG 11 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA DR5KA UT WOS:000379940700007 PM 26511201 ER PT J AU Waters, AM Pine, DS AF Waters, Allison M. Pine, Daniel S. TI Evaluating differences in Pavlovian fear acquisition and extinction as predictors of outcome from cognitive behavioural therapy for anxious children SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Anxiety; children; conditioning; extinction; treatment ID CHILDHOOD ANXIETY DISORDERS; POSTTRAUMATIC-STRESS-DISORDER; DEPRESSIVE-DISORDERS; ATTENTION BIAS; THREAT; ADOLESCENTS; RESISTANCE; INTERVIEW; SYMPTOMS; MOTHERS AB Background: Extinction is a key theoretical model of exposure-based treatments, such as cognitive behavioural therapy (CBT). This study examined whether individual differences in physiological responses and subjective stimulus evaluations as indices of fear extinction predicted response to CBT. Methods: Thirty-two nonanxious comparisons and 44 anxious, 7-to-13-year-old children completed a Pavlovian conditioning and extinction task. Anxious children then completed group-based CBT. Skin conductance responses (SCRs) as well as subjective arousal and valence evaluations were measured in response to a conditioned stimulus paired with an aversive tone (CS+) and another conditioned stimulus presented alone (CS-). Both stimuli were presented alone during extinction. Diagnostic and symptom measures were completed before and after treatment. Results: Like nonanxious comparisons, treatment responders did not acquire conditioned negative stimulus evaluations and displayed elevated SCRs that declined significantly across extinction trials. Nonresponders, by contrast, showed elevated negative stimulus evaluations of both CSs that were sensitive to extinction trials but showed no change in SCRs during extinction. Change in physiological but not evaluative indices of fear extinction predicted better treatment outcomes. Conclusions: Individual differences in evaluative and physiological indices of fear extinction might moderate response to CBT. C1 [Waters, Allison M.] Griffith Univ, Sch Appl Psychol, Mt Gravatt, Qld, Australia. [Pine, Daniel S.] NIMH, Mood & Anxiety Disorders Program, Bethesda, MD 20892 USA. RP Waters, AM (reprint author), Griffith Univ, Sch Appl Psychol, Brisbane, Qld 4122, Australia. EM a.waters@griffith.edu.au FU Australian Research Council [DP1095536] FX This research was partially supported by funding from the Australian Research Council (DP1095536) awarded to A.M.W. The authors have declared that they have no competing or potential conflicts of interest. NR 35 TC 3 Z9 3 U1 4 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 EI 1469-7610 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD JUL PY 2016 VL 57 IS 7 BP 869 EP 876 DI 10.1111/jcpp.12522 PG 8 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA DR5KA UT WOS:000379940700012 PM 26871483 ER PT J AU Sherrill, JT AF Sherrill, Joel T. TI Adaptive Treatment Strategies in Youth Mental Health: A Commentary on Advantages, Challenges, and Potential Directions SO JOURNAL OF CLINICAL CHILD AND ADOLESCENT PSYCHOLOGY LA English DT Article ID COGNITIVE-BEHAVIORAL THERAPY; RANDOMIZED CONTROLLED-TRIAL; PSYCHOSOCIAL TREATMENTS; ANXIETY DISORDERS; CHILDHOOD ANXIETY; ADOLESCENTS; PSYCHOTHERAPY; COMBINATION; DEPRESSION; CHILDREN AB This commentary underscores the importance and potential of the research approaches and intervention strategies described in the JCCAP special issue on the Science of Adaptive Treatment Strategies in Child and Adolescent Mental Health for addressing the widely observed heterogeneity in response to even our most promising research-informed interventions. First, the commentary briefly summarizes the advantages of these approaches and highlights how these programs of research are responsive to widely agreed-upon calls for more personalized, prescriptive interventions. Next, the commentary briefly discusses key common challenges and gaps in our knowledge that might be addressed to advance the development, testing, and implementation of adaptive intervention strategies. For example, research to identify robust moderators that might serve as potential tailoring variables for initial assignment and sequencing of interventions, efforts to operationalize surrogate endpoints for early identification of individuals who are unlikely to respond to first-line interventions, and research that helps define what constitutes an adequate exposure (i.e., dose) or response threshold (e.g., response that suggests the need to intensify, switch, or augment interventions) would inform decision rules for adaptive algorithms. The commentary concludes with a discussion of potential strategies and current initiatives that might ultimately help facilitate research on more targeted, prescriptive approaches to intervening, including efforts to encourage investigators to use common data elements, to share and integrate data across trials, and to employ a more mechanism-based approach to intervention development and testing. C1 [Sherrill, Joel T.] NIMH, Div Serv & Intervent Res, Bethesda, MD 20892 USA. RP Sherrill, JT (reprint author), NIMH, Div Serv & Intervent Res, NIH, 6001 Execut Blvd,Room 7135,MSC 9633, Bethesda, MD 20892 USA. EM jsherril@mail.nih.gov NR 24 TC 0 Z9 0 U1 0 U2 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXON, ENGLAND SN 1537-4416 EI 1537-4424 J9 J CLIN CHILD ADOLESC JI J. Clin. Child Adolesc. Psychol. PD JUL-AUG PY 2016 VL 45 IS 4 SI SI BP 522 EP 527 DI 10.1080/15374416.2016.1169539 PG 6 WC Psychology, Clinical; Psychology, Developmental SC Psychology GA DR6IJ UT WOS:000380005300011 PM 27347782 ER PT J AU Perry, C Chung, JY Ylaya, K Choi, CH Simpson, A Matsumoto, KT Smith, WA Hewitt, SM AF Perry, Candice Chung, Joon-Yong Ylaya, Kris Choi, Chel Hun Simpson, Amari Matsumoto, Kaipo T. Smith, William A. Hewitt, Stephen M. TI A Buffered Alcohol-Based Fixative for Histomorphologic and Molecular Applications SO JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY LA English DT Article DE alcohol; fixation; formalin; histomorphology; paraffin embedded; real-time RT-PCR; RNA integrity; tissue ID PARAFFIN-EMBEDDED TISSUE; NUCLEIC-ACID INTEGRITY; SUBSTITUTE FIXATIVES; SURGICAL PATHOLOGY; FORMALIN SUBSTITUTE; HOPE FIXATION; RNA; FORMALDEHYDE; MORPHOLOGY; PROTEIN AB Formalin-fixed paraffin-embedded (FFPE) tissue is the predominant preparation for diagnostic histopathological evaluation and increasingly the biospecimen on which molecular diagnostics are performed. However, formalin is carcinogenic and results in cross-linking of proteins and nicking and alterations of nucleic acids. Alternative fixatives, including 70% ethanol, improved biomolecular integrity; however, they have yet to replace neutral-buffered formalin (NBF). Herein, we describe the phosphate-buffered ethanol 70% (BE70) fixative. The histomorphology of BE70-fixed tissue is very similar to that of NBF; however, it is a non-cross-linking fixative and lacks the carcinogenic profile of formaldehyde-based fixatives. RNA isolated from tissue fixed in BE70 was of substantially higher quality and quantity than that was recovered from formalin-fixed tissue. Furthermore, the BE70 fixative showed excellent RNA and DNA integrity compared with that of NBF fixative based on real-time polymerase chain reaction analysis results. Immunohistochemical staining was similar for the antigen tested. In conclusion, BE70 is a non-cross-linking fixative that is superior to NBF and 70% ethanol with reference to biomolecule recovery and quality from paraffin-embedded tissue. Additional studies to compare the histomorphologic and immunohistochemical performance and utility in a clinical setting are required. C1 [Perry, Candice; Chung, Joon-Yong; Ylaya, Kris; Choi, Chel Hun; Simpson, Amari; Matsumoto, Kaipo T.; Smith, William A.; Hewitt, Stephen M.] NCI, Expt Pathol Lab, Lab Pathol,Ctr Canc Res, NIH, MSC1500, Bethesda, MD 20892 USA. [Perry, Candice] Leidos Biomed Res Inc, Antibody Characterizat Lab, Adv Technol Program, Frederick, MD USA. [Choi, Chel Hun] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Obstet & Gynecol, Seoul, South Korea. RP Hewitt, SM (reprint author), NCI, Expt Pathol Lab, Lab Pathol,Ctr Canc Res, NIH, MSC1500, Bethesda, MD 20892 USA. EM genejock@helix.nih.gov OI Chung, Joon-Yong/0000-0001-5041-5982 FU Intramural Research Program of the Center for Cancer Research, National Cancer Institute, National Institutes of Health FX The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This research was supported by the Intramural Research Program of the Center for Cancer Research, National Cancer Institute, National Institutes of Health. NR 48 TC 0 Z9 0 U1 3 U2 4 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 0022-1554 EI 1551-5044 J9 J HISTOCHEM CYTOCHEM JI J. Histochem. Cytochem. PD JUL PY 2016 VL 64 IS 7 BP 425 EP 440 DI 10.1369/0022155416649579 PG 16 WC Cell Biology SC Cell Biology GA DR3TS UT WOS:000379826100003 PM 27221702 ER PT J AU Liu, JJ Crous-Bou, M Giovannucci, E De Vivo, I AF Liu, Jason J. Crous-Bou, Marta Giovannucci, Edward De Vivo, Immaculata TI Coffee Consumption Is Positively Associated with Longer Leukocyte Telomere Length in the Nurses' Health Study SO JOURNAL OF NUTRITION LA English DT Article DE coffee; decaffeinated coffee; caffeine; telomere; telomere length; epidemiology ID RANDOMIZED CONTROLLED-TRIAL; TOTAL ANTIOXIDANT CAPACITY; INDUCED DNA-DAMAGE; OXIDATIVE STRESS; CANCER-RISK; MYOCARDIAL-INFARCTION; MEDITERRANEAN DIET; INSTANT COFFEE; STRAND BREAKS; GENOTOXICITY AB Background: Coffee is an important source of antioxidants, and consumption of this beverage is associated with many health conditions and a lower mortality risk. However, no study, to our knowledge, has examined whether varying coffee or caffeine consumption levels are associated with telomere length, a biomarker of aging whose shortening can be accelerated by oxidative stress. Objective: We performed a large comprehensive study on how coffee consumption is associated with telomere length. Methods: We used data from the Nurses' Health Study (NHS), a prospective cohort study of female nurses that began in 1976. We examined the cross-sectional association between coffee consumption and telomere length in 4780 women from the NHS. Coffee consumption information was obtained from validated food-frequency questionnaires, and relative telomere length was measured in peripheral blood leukocytes by the quantitative real-time polymerase chain reaction. Unconditional logistic regression was used to obtain ORs when the telomere length outcome was dichotomized at the median. Linear regression was used for tests of trend with coffee consumption and telomere length as continuous variables. Results: Higher total coffee consumption was significantly associated with longer telomeres after potential confounding adjustment. Compared with non-coffee drinkers, multivariable ORs for those drinking 2 to <3 and >= 3 cups of coffee/d were, respectively, 1.29 (95% CI: 0.99, 1.68) and 1.36 (95% CI: 1.04, 1.78) (P-trend = 0.02). We found a significant linear association between caffeine consumption from all dietary sources and telomere length (P-trend = 0.02) after adjusting for potential confounders, but not after additionally adjusting for total coffee consumption (P-trend = 0.37). Conclusions: We found that higher coffee consumption is associated with longer telomeres among female nurses. Future studies are needed to better understand the influence of coffee consumption on telomeres, which may uncover new knowledge of how coffee consumption affects health and longevity. C1 [Liu, Jason J.] NCI, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA. [Crous-Bou, Marta; Giovannucci, Edward; De Vivo, Immaculata] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA. [Crous-Bou, Marta; Giovannucci, Edward; De Vivo, Immaculata] Harvard Med Sch, Boston, MA 02115 USA. [Crous-Bou, Marta; Giovannucci, Edward; De Vivo, Immaculata] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. [Giovannucci, Edward] Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA. RP De Vivo, I (reprint author), Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.; De Vivo, I (reprint author), Harvard Med Sch, Boston, MA 02115 USA.; De Vivo, I (reprint author), Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. EM nhidv@channing.harvard.edu FU National Cancer Institute at NIH [UM1 CA186107, 1R01 CA134958, 2R01 CA082838, P01 CA087969, R01 CA49449, CA065725, CA132190, CA139586, CA140790, CA133914, CA132175, CA163451, HL088521, HL60712, U54 CA155626, R01 AR059073, HL34594, P01 CA87969, R01 HL034594] FX Supported by the National Cancer Institute at NIH (UM1 CA186107, 1R01 CA134958, 2R01 CA082838, P01 CA087969, R01 CA49449, CA065725, CA132190, CA139586, CA140790, CA133914, CA132175, CA163451, HL088521, HL60712, U54 CA155626, R01 AR059073, HL34594, P01 CA87969, and R01 HL034594). NR 52 TC 2 Z9 2 U1 7 U2 11 PU AMER SOC NUTRITION-ASN PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 0022-3166 EI 1541-6100 J9 J NUTR JI J. Nutr. PD JUL PY 2016 VL 146 IS 7 BP 1373 EP 1378 DI 10.3945/jn.116.230490 PG 6 WC Nutrition & Dietetics SC Nutrition & Dietetics GA DQ7IL UT WOS:000379380100012 PM 27281805 ER PT J AU Wang, H Zhang, DF Han, Q Zhao, X Zeng, X Xu, Y Sun, Z Chen, QM AF Wang, Hui Zhang, Dunfang Han, Qi Zhao, Xin Zeng, Xin Xu, Yi Sun, Zheng Chen, Qianming TI Role of distinct CD4(+) T helper subset in pathogenesis of oral lichen planus SO JOURNAL OF ORAL PATHOLOGY & MEDICINE LA English DT Review DE CD4(+); T helper cells; cytokines; oral lichen planus ID NECROSIS-FACTOR-ALPHA; RANDOMIZED DOUBLE-BLIND; C VIRUS-INFECTION; INTESTINAL EPITHELIAL-CELLS; ETHNIC CHINESE COHORT; NF-KAPPA-B; TNF-ALPHA; FLUOCINOLONE ACETONIDE; CHRONIC PERIODONTITIS; TH17 CELLS AB Oral lichen planus (OLP) is one of the most common chronic inflammatory oral mucosal diseases with T-cell-mediated immune pathogenesis. In subepithelial and lamina propria of OLP local lesions, the presence of CD4(+) T helper (CD4(+) Th) cells appeared as the major lymphocytes. These CD4(+) T lymphocytes can differentiate into distinct Th cell types such as Th1, Th2, Treg, Th17, Th22, Th9, and Tfh within the context of certain cytokines environment. Growing evidence indicated that Th1/Th2 imbalance may greatly participate into the cytokine network of OLP immunopathology. In addition, Th1/Th2 imbalance can be regulated by the Treg subset and also greatly influenced by the emerging novel CD4(+) Th subset Th17. Furthermore, the presence of novel subsets Th22, Th9 and Tfh in OLP patients is yet to be clarified. All these Th subsets and their specific cytokines may play a critical role in determining the character, extent and duration of immune responses in OLP pathogenesis. Therefore, we review the roles of distinct CD4(+) Th subsets and their signature cytokines in determining disease severity and susceptibility of OLP and also reveal the novel therapeutic strategies based on T lymphocytes subsets in OLP treatment. C1 [Wang, Hui; Sun, Zheng] Capital Med Univ, Sch Stomatol, Dept Oral Med, Tian Tan Xi Li 4, Beijing 100050, Peoples R China. [Wang, Hui; Zhang, Dunfang; Han, Qi; Zhao, Xin; Zeng, Xin; Xu, Yi; Chen, Qianming] Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China. [Zhang, Dunfang] Natl Inst Dent & Craniofacial Res, Mucosal Immunol Sect, NIH, Bethesda, MD USA. RP Sun, Z (reprint author), Capital Med Univ, Sch Stomatol, Dept Oral Med, Tian Tan Xi Li 4, Beijing 100050, Peoples R China.; Chen, QM (reprint author), Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Sect 3, Renmin South Rd, Chengdu 610041, Sichuan, Peoples R China. EM sunzheng12@vip.sohu.com; qmchen@scu.edu.cn FU National Natural Science Foundation of China [81321002, 81472533, 81400517]; Ministry of Education of China [20120181120011] FX This work was supported by grants from the National Natural Science Foundation of China (No. 81321002, 81472533, 81400517), and the Doctoral Program of the Ministry of Education of China (No. 20120181120011). NR 96 TC 0 Z9 0 U1 6 U2 11 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0904-2512 EI 1600-0714 J9 J ORAL PATHOL MED JI J. Oral Pathol. Med. PD JUL PY 2016 VL 45 IS 6 BP 385 EP 393 DI 10.1111/jop.12405 PG 9 WC Dentistry, Oral Surgery & Medicine; Pathology SC Dentistry, Oral Surgery & Medicine; Pathology GA DR5FL UT WOS:000379928800001 PM 26693958 ER PT J AU Wester, JC AF Wester, Jason C. TI Reverse engineering inhibitory circuits in hippocampal CA3 SO JOURNAL OF PHYSIOLOGY-LONDON LA English DT Editorial Material ID DIVERSITY C1 [Wester, Jason C.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Dev Neurobiol, NIH, Bethesda, MD 20892 USA. RP Wester, JC (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Dev Neurobiol, NIH, Bethesda, MD 20892 USA. EM westerjc@mail.nih.gov OI Wester, Jason/0000-0001-8434-9549 NR 6 TC 0 Z9 0 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3751 EI 1469-7793 J9 J PHYSIOL-LONDON JI J. Physiol.-London PD JUL 1 PY 2016 VL 594 IS 13 BP 3485 EP 3486 DI 10.1113/JP272620 PG 2 WC Neurosciences; Physiology SC Neurosciences & Neurology; Physiology GA DR3LM UT WOS:000379804700001 PM 27365156 ER PT J AU Muskett, JA Chattaraj, P Heneghan, JF Reimold, FR Shmukler, BE Brewer, CC King, KA Zalewski, CK Shawker, TH Butman, JA Kenna, MA Chien, WW Alper, SL Griffith, AJ AF Muskett, Julie A. Chattaraj, Parna Heneghan, John F. Reimold, Fabian R. Shmukler, Boris E. Brewer, Carmen C. King, Kelly A. Zalewski, Christopher K. Shawker, Thomas H. Butman, John A. Kenna, Margaret A. Chien, Wade W. Alper, Seth L. Griffith, Andrew J. TI Atypical Patterns of Segregation of Familial Enlargement of the Vestibular Aqueduct SO LARYNGOSCOPE LA English DT Article DE Assortative mating; deafness; genetic; hearing loss; pseudodominant; SLC26A4 ID GENOTYPE-PHENOTYPE CORRELATION; HEARING-LOSS; PENDRED-SYNDROME; COMPUTED-TOMOGRAPHY; SLC26A4; DEAFNESS; MUTATION; PDS; KCNJ10; FOXI1 AB Objectives/Hypothesis: Hearing loss and enlarged vestibular aqueduct ( EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. Study Design: Prospective study of cohort of families ascertained between 1998 and 2014 at the National Institutes of Health Clinical Center. Methods: Study subjects were members of eight families segregating EVA in at least two members who were not related as siblings. Evaluations included pure-tone audiometry, temporal bone imaging, SLC26A4 nucleotide sequence analysis, SLC26A4-linked marker genotype and haplotype analysis, and pedigree analysis. Results: One family had members with EVA caused by different etiologies, and two families had pseudodominant inheritance of recessive mutations of SLC26A4. In five families, the etiology remained unknown and could include inheritance of mutant alleles at another genetic locus, nongenetic influences, or a combination of these factors. Conclusions: Familial EVA can demonstrate a variety of atypical segregation patterns. Pseudodominant inheritance of SLC26A4 mutations or recessive alleles of other hearing loss genes may be more likely to occur in families in which deaf individuals have intermarried. The etiologic basis of atypical segregation of EVA without detectable SLC26A4 mutations remains unknown. Future studies of these families may reveal novel genes for EVA. C1 [Muskett, Julie A.; Chattaraj, Parna; Brewer, Carmen C.; King, Kelly A.; Zalewski, Christopher K.; Griffith, Andrew J.] Natl Inst Deafness & Other Commun Disorders, Otolaryngol Branch, NIH, Bethesda, MD USA. [Heneghan, John F.; Reimold, Fabian R.; Shmukler, Boris E.; Alper, Seth L.] Harvard Med Sch, Beth Israel Deaconess Med Ctr, Div Renal, Boston, MA USA. [Shawker, Thomas H.; Butman, John A.] NIH, Radiol & Imaging Sci, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Kenna, Margaret A.] Harvard Med Sch, Dept Otol & Laryngol, Boston, MA USA. [Kenna, Margaret A.] Boston Childrens Hosp, Dept Otolaryngol & Commun Enhancement, Boston, MA USA. [Chien, Wade W.] Natl Inst Deafness & Other Commun Disorders, Off Clin Director, NIH, Bethesda, MD USA. RP Griffith, AJ (reprint author), Natl Inst Deafness & Other Commun Disorders, NIH, 35A Convent Dr,Room GF 103, Bethesda, MD 20892 USA. EM griffita@nidcd.nih.gov FU NIH [Z01-DC-000060-13, Z01-DC-000064-13, Z01-DC-000082-02] FX This work was supported by NIH intramural research funds Z01-DC-000060-13, Z01-DC-000064-13, and Z01-DC-000082-02. NR 28 TC 0 Z9 0 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0023-852X EI 1531-4995 J9 LARYNGOSCOPE JI Laryngoscope PD JUL PY 2016 VL 126 IS 7 BP E240 EP E247 DI 10.1002/lary.25737 PG 8 WC Medicine, Research & Experimental; Otorhinolaryngology SC Research & Experimental Medicine; Otorhinolaryngology GA DR6AP UT WOS:000379983800002 PM 26485571 ER PT J AU Shrestha, S Lutsey, PL Alonso, A Huang, XM Mosley, TH Chen, HL AF Shrestha, Srishti Lutsey, Pamela L. Alonso, Alvaro Huang, Xuemei Mosley, Thomas H., Jr. Chen, Honglei TI Serum 25-hydroxyvitamin D concentrations in Mid-adulthood and Parkinson's disease risk SO MOVEMENT DISORDERS LA English DT Article DE Parkinson's disease; vitamin D; cohort study ID VITAMIN-D DEFICIENCY; TANDEM MASS-SPECTROMETRY; ATHEROSCLEROSIS RISK; TREATED RATS; D-RECEPTOR; D-3; PREVALENCE; STRIATUM; 6-HYDROXYDOPAMINE; NEUROTOXICITY AB BackgroundLow vitamin D levels are common among patients with Parkinson's disease (PD). Experimental evidence further suggests that vitamin D may be protective against PD. The objective of this study was to prospectively assess the association between serum 25-hydroxyvitamin D and PD among 12,762 participants of the Atherosclerosis Risk in Communities Study cohort. MethodsSerum samples were collected in 1990-1992, and 25-hydroxyvitamin D was measured by liquid chromatography mass spectrometry. A total of 67 incident PD cases were identified through December 31, 2008. The median length of follow-up was 17 years. We used Cox proportional hazards models to obtain hazard ratios and 95% confidence intervals, adjusting for age, sex, and race. We did not find any association between serum 25-hydroxyvitamin D concentrations and PD risk, regardless of how serum 25-hydroxyvitamin D was modeled. Compared with participants with serum 25-hydroxyvitamin D < 20 ng/mL, the hazards ratio for PD was 1.05 (95% confidence interval, 0.58-1.90) for 20-30 ng/mL and 1.14 (95% confidence interval, 0.59- 2.23) for 30 ng/mL. Similar results were obtained in sensitivity analyses that included white participants only and that were stratified by the length of follow-up. ConclusionThis prospective study lends no support to the hypothesis that vitamin D may reduce the risk of PD. (c) 2016 International Parkinson and Movement Disorder Society C1 [Shrestha, Srishti; Chen, Honglei] NIEHS, Epidemiol Branch, Res Triangle Pk, NC 27709 USA. [Lutsey, Pamela L.; Alonso, Alvaro] Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, Minneapolis, MN USA. [Huang, Xuemei] Penn State Milton S Hershey Med Ctr, Dept Neurol, Hershey, PA USA. [Mosley, Thomas H., Jr.] Univ Mississippi, Med Ctr, Dept Geriatr Med, Jackson, MS 39216 USA. RP Chen, HL (reprint author), NIEHS, 111 TW Alexander Dr,MD A3-05, Res Triangle Pk, NC 27709 USA. EM chenh2@niehs.nih.gov RI Alonso, Alvaro/A-4917-2010; OI Alonso, Alvaro/0000-0002-2225-8323; Chen, Honglei/0000-0003-3446-7779 FU National Institute of Health, the National Institute of Environmental Health Sciences [Z01-ES-101986]; NIH National Heart, Lung, and Blood Institute [HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, HHSN268201100012C] FX This work was supported by the Intramural Research Program of the National Institute of Health, the National Institute of Environmental Health Sciences (Z01-ES-101986). The Atherosclerosis Risk in Communities study has been carried out as a collaborative study supported by NIH National Heart, Lung, and Blood Institute contracts HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, and HHSN268201100012C. NR 36 TC 0 Z9 0 U1 1 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0885-3185 EI 1531-8257 J9 MOVEMENT DISORD JI Mov. Disord. PD JUL PY 2016 VL 31 IS 7 BP 972 EP 978 DI 10.1002/mds.26573 PG 7 WC Clinical Neurology SC Neurosciences & Neurology GA DR5KW UT WOS:000379942900010 PM 27090608 ER PT J AU El-Toukhy, S Choi, K AF El-Toukhy, Sherine Choi, Kelvin TI A Risk-Continuum Categorization of Product Use Among US Youth Tobacco Users SO NICOTINE & TOBACCO RESEARCH LA English DT Article ID HIGH-SCHOOL-STUDENTS; NICOTINE DELIVERY-SYSTEMS; CIGARETTE SMOKERS USE; SMOKELESS TOBACCO; HARM REDUCTION; UNITED-STATES; ELECTRONIC CIGARETTES; SMOKING INITIATION; YOUNG ADOLESCENTS; DUAL-USE AB To examine prevalence and correlates of five mutually exclusive tobacco-use patterns among US youth tobacco users. A nationally representative sample of tobacco users (N = 3202, 9-17 years) was classified into five product-use patterns. Weighted multinominal and multivariate logistic regression models were used to examine prevalence of product-use patterns by gender, race and ethnicity, and grade level; and associations between product-use patterns and perceived accessibility of tobacco products, exposure and receptivity to pro-tobacco marketing, social benefits of smoking, and tobacco-associated risks. Dual use (ie, use of two product categories) was the most prevalent pattern (30.5%), followed by non-cigarette combustible only (26.7%), polytobacco (ie, use of three product categories; 17.5%), cigarette only (14.9%), and noncombustible only (10.4%) use. Product-use patterns differed by gender, race, and ethnicity. Compared to cigarette only users, dual and polytobacco users were more likely to be exposed to and be receptive to pro-tobacco marketing, and were less likely to acknowledge tobacco-use related risks (Ps < .05). Curbing tobacco use warrants research on users of more than one tobacco-product categories according to the risk-continuum categorization. We present a risk-continuum categorization of product-use patterns among tobacco users not older than 17 years. We classify tobacco users into five mutually exclusive product-use patterns: cigarette only users, non-cigarette combustible only users, noncombustible only users, dual use, and polytobacco use. This categorization overcomes limitations in current literature on tobacco-use patterns, which include exclusion of certain products (eg, e-cigarettes) and product-use patterns (eg, exclusive users of non-cigarette products), and inconsistent classification of tobacco users. It is parsimonious yet complex enough to retain differential characteristics of sub-tobacco users based on number (single, dual, polytobacco) and categories (cigarettes, non-cigarette combustibles, noncombustibles) of tobacco products consumed. C1 [El-Toukhy, Sherine; Choi, Kelvin] Natl Inst Minor Hlth & Hlth Dispar, Div Intramural Res, NIH, Bldg 3,Room 5W05,9000 Rockville Pike, Bethesda, MD 20892 USA. RP Choi, K (reprint author), Natl Inst Minor Hlth & Hlth Dispar, Div Intramural Res, NIH, Bldg 3,Room 5W05,9000 Rockville Pike, Bethesda, MD 20892 USA. EM Kelvin.choi@nih.gov FU Division of Intramural Research, National Institute on Minority Health and Health Disparities, National Institutes of Health FX Funding for this article was provided by the Division of Intramural Research, National Institute on Minority Health and Health Disparities, National Institutes of Health. NR 77 TC 1 Z9 1 U1 6 U2 8 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1462-2203 EI 1469-994X J9 NICOTINE TOB RES JI Nicotine Tob. Res. PD JUL PY 2016 VL 18 IS 7 BP 1596 EP 1605 DI 10.1093/ntr/ntw008 PG 10 WC Substance Abuse; Public, Environmental & Occupational Health SC Substance Abuse; Public, Environmental & Occupational Health GA DR3TW UT WOS:000379826500008 PM 26764258 ER PT J AU Sahin, M Henske, EP Manning, BD Ess, KC Bissler, JJ Klann, E Kwiatkowski, DJ Roberds, SL Silva, AJ St Hillaire-Clarke, C Young, LR Zervas, M Mamounas, LA AF Sahin, Mustafa Henske, Elizabeth P. Manning, Brendan D. Ess, Kevin C. Bissler, John J. Klann, Eric Kwiatkowski, David J. Roberds, Steven L. Silva, Alcino J. St Hillaire-Clarke, Coryse Young, Lisa R. Zervas, Mark Mamounas, Laura A. CA Tuberous Sclerosis Complex Working TI Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference SO PEDIATRIC NEUROLOGY LA English DT Review ID NEUROPSYCHIATRIC DISORDERS TAND; NOVO PYRIMIDINE SYNTHESIS; AUTISTIC-LIKE BEHAVIOR; RENAL-CELL CARCINOMA; MOUSE MODEL; PRECLINICAL RESEARCH; TSC1-TSC2 COMPLEX; DRUG DEVELOPMENT; NATURAL-HISTORY; ANIMAL RESEARCH AB On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex with the goal of updating the 2003 Research Plan for Tuberous Sclerosis (http://www.ninds.nih.goviabout_ninds/plansitscler_research_plan.htm). In addition to the National Institute of Neurological Disorders and Stroke and Tuberous Sclerosis Alliance, participants in the strategic planning effort and workshop included representatives from six other Institutes of the National Institutes of Health, the Department of Defense Tuberous Sclerosis Complex Research Program, and a broad cross-section of basic scientists and clinicians with expertise in tuberous sclerosis complex along with representatives from the pharmaceutical industry. Here we summarize the outcomes from the extensive premeeting deliberations and final workshop recommendations, including (1) progress in the field since publication of the initial 2003 research plan for tuberous sclerosis complex, (2) the key gaps, needs, and challenges that hinder progress in tuberous sclerosis complex research, and (3) a new set of research priorities along with specific recommendations for addressing the major challenges in each priority area. The new research plan is organized around both short-term and long-term goals with the expectation that progress toward specific objectives can be achieved within a five to ten year time frame. (C) 2016 Elsevier Inc. All rights reserved. C1 [Sahin, Mustafa] Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA USA. [Henske, Elizabeth P.; Kwiatkowski, David J.] Harvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Boston, MA USA. [Manning, Brendan D.] Harvard TH Chan Sch Publ Hlth, Dept Genet & Complex Dis, Boston, MA USA. [Ess, Kevin C.] Vanderbilt Univ, Dept Pediat, Vanderbilt Kennedy Ctr Res Human Dev, 221 Kirkland Hall, Nashville, TN 37235 USA. [Bissler, John J.] Univ Tennessee, Hlth Sci Ctr, Le Bonheur Childrens Hosp, Memphis, TN USA. [Bissler, John J.] St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA. [Klann, Eric] NYU, Ctr Neural Sci, New York, NY 10003 USA. [Roberds, Steven L.] Tuberous Sclerosis Alliance, Silver Spring, MD USA. [Silva, Alcino J.] Univ Calif Los Angeles, Brain Res Inst, Integrat Ctr Learning & Memory, Dept Neurobiol, Los Angeles, CA 90024 USA. [Silva, Alcino J.] Univ Calif Los Angeles, Brain Res Inst, Integrat Ctr Learning & Memory, Dept Psychiat, Los Angeles, CA 90024 USA. [Silva, Alcino J.] Univ Calif Los Angeles, Brain Res Inst, Integrat Ctr Learning & Memory, Dept Psychol, Los Angeles, CA 90024 USA. [St Hillaire-Clarke, Coryse; Mamounas, Laura A.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Young, Lisa R.] Vanderbilt Univ, Sch Med, Dept Pediat, Div Pulm Med, Nashville, TN 37212 USA. [Young, Lisa R.] Vanderbilt Univ, Sch Med, Dept Med, Div Allergy Pulm & Crit Care, Nashville, TN 37212 USA. [Zervas, Mark] Amgen Inc, Dept Neurosci, Cambridge, MA USA. [Mamounas, Laura A.] NINDS, Ctr Neurosci, Room 2114A,6001 Execut Blvd, Bethesda, MD 20892 USA. RP Sahin, M (reprint author), Boston Childrens Hosp, 300 Longwood Av CLS 14073, Boston, MA 02115 USA. EM mustafa.sahin@childrens.harvard.edu; mamounas@ninds.nih.gov OI SAHIN, MUSTAFA/0000-0001-7044-2953 FU NIH [U01 NS082320, 1R01 NS078289, R35-CA197459, P01-CA120964]; Developmental Synaptopathies Consortium, NCATS Rare Diseases Clinical Research Network (RDCRN) [U54NS092090]; TSC; LAM Research; Amgen; LAM Foundation; Rare Lung Diseases Consortium, Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS [U54HL127672]; Novartis; National Institute of Neurological Disorders and Stroke (NINDS); Tuberous Sclerosis Alliance; initiative of the Office of Rare Diseases Research (ORDR), NCATS FX This article represents the views of the authors and not the NIH. We thank all workshop organizers, speakers and participants (see Supplemental Appendices 2 and 3) for productive discussions, many of which are represented in this paper. Funding support for the March 2015 workshop on which this article reports ("Unlocking Treatments for TSC: 2015 Strategic Plan") was provided by the National Institute of Neurological Disorders and Stroke (NINDS) and the Tuberous Sclerosis Alliance. M.S. is supported by the NIH U01 NS082320 and the Developmental Synaptopathies Consortium (U54NS092090), which is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through collaboration between NCATS, NIMH, NINDS and NICHD. E.P.H. is supported by the Lucy J. Engles Program in TSC and LAM Research. K.C.E. was supported by NIH 1R01 NS078289. Research in the laboratory of B.D.M. related to the subject of this report was supported by NIH grant R35-CA197459 and to B.D.M. and D.J.K by P01-CA120964. M.Z. was an Amgen employee at the time, the work was performed and fully supported by Amgen in the form of salary. L.R.Y. was supported by an Established Investigator Award from the LAM Foundation and by the Rare Lung Diseases Consortium (U54HL127672), which is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded by collaboration between NCATS and NHLBI. M.S. has received research grants from Novartis. B.D.M. is on the scientific advisory boards for LAM Therapeutics and Navitor Pharmaceuticals, but these roles did not influence the content of this article. M.S. is an Associate Editor for this journal but did not take part in the review and publication decisions. NR 79 TC 3 Z9 3 U1 1 U2 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0887-8994 EI 1873-5150 J9 PEDIATR NEUROL JI Pediatr. Neurol. PD JUL PY 2016 VL 60 BP 1 EP 12 DI 10.1016/j.pediatrneurol.2016.03.015 PG 12 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA DR4RM UT WOS:000379889900001 PM 27267556 ER PT J AU Yang, PY Patrick, E Humphrey, SJ Ghazanfar, S James, DE Jothi, R Yang, JYH AF Yang, Pengyi Patrick, Ellis Humphrey, Sean J. Ghazanfar, Shila James, David E. Jothi, Raja Yang, Jean Yee Hwa TI KinasePA: Phosphoproteomics data annotation using hypothesis driven kinase perturbation analysis SO PROTEOMICS LA English DT Article DE Bioinformatics; Hypothesis testing; Kinase; Perturbation; Phosphoproteomics; Signalling ID ENRICHMENT ANALYSIS; REVEALS; INHIBITION; PROTEOMICS; PATHWAY; CELLS AB Mass spectrometry (MS)-based quantitative phosphoproteomics has become a key approach for proteome-wide profiling of phosphorylation in tissues and cells. Traditional experimental design often compares a single treatment with a control, whereas increasingly more experiments are designed to compare multiple treatments with respect to a control. To this end, the development of bioinformatic tools that can integrate multiple treatments and visualise kinases and substrates under combinatorial perturbations is vital for dissecting concordant and/or independent effects of each treatment. Here, we propose a hypothesis driven kinase perturbation analysis (KinasePA) to annotate and visualise kinases and their substrates that are perturbed by various combinatorial effects of treatments in phosphoproteomics experiments. We demonstrate the utility of KinasePA through its application to two large-scale phosphoproteomics datasets and show its effectiveness in dissecting kinases and substrates within signalling pathways driven by unique combinations of cellular stimuli and inhibitors. We implemented and incorporated KinasePA as part of the "directPA" R package available from the comprehensive R archive network (CRAN). Furthermore, KinasePA also has an interactive web interface that can be readily applied to annotate user provided phosphoproteomics data (http://kinasepa.pengyiyang.org). C1 [Yang, Pengyi; Ghazanfar, Shila; Yang, Jean Yee Hwa] Univ Sydney, Sch Math & Stat, Sydney, NSW, Australia. [Yang, Pengyi; Humphrey, Sean J.; James, David E.] Univ Sydney, Sch Mol Biosci, Charles Perkins Ctr, Sydney, NSW, Australia. [Yang, Pengyi; Jothi, Raja] NIEHS, Syst Biol Sect, Epigenet & Stem Cell Biol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. [Patrick, Ellis] Harvard Med Sch, Broad Inst, Brigham & Womens Hosp, Boston, MA USA. [Humphrey, Sean J.] Max Planck Inst Biochem, Dept Prote & Signal Transduct, Martinsried, Germany. RP Yang, JYH (reprint author), Univ Sydney, Sch Math & Stat F07, Sydney, NSW 2006, Australia. EM jean.yang@sydney.edu.au OI Ghazanfar, Shila/0000-0001-7861-6997; Patrick, Ellis/0000-0002-5253-4747; Yang, Pengyi/0000-0003-1098-3138 FU Intramural NIH HHS [ZIA ES102625-07] NR 11 TC 1 Z9 1 U1 2 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1615-9853 EI 1615-9861 J9 PROTEOMICS JI Proteomics PD JUL PY 2016 VL 16 IS 13 BP 1868 EP 1871 DI 10.1002/pmic.201600068 PG 4 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR5EM UT WOS:000379925900007 PM 27145998 ER PT J AU Dorn, LD Gayles, JG Engeland, CG Houts, R Cizza, G Denson, LA AF Dorn, Lorah D. Gayles, Jochebed G. Engeland, Christopher G. Houts, Renate Cizza, Giovanni Denson, Lee A. TI Cytokine Patterns in Healthy Adolescent Girls: Heterogeneity Captured by Variable and Person-Centered Statistical Strategies SO PSYCHOSOMATIC MEDICINE LA English DT Article DE adolescence; cytokine; immune system; inflammation; latent profile analysis; principal factor analysis ID CORONARY-HEART-DISEASE; ANXIETY; AGE; BIOMARKERS; SYMPTOMS; SMOKING; MARKERS AB Background: Little is known about variation in individual cytokines/ cytokine profiles for a large healthy, pediatric population. When cytokines in a healthy group are not abnormally high as in a disease state, it is challenging to determine appropriate statistical strategies. The aims of the study were (1) to describe variation among cytokine concentrations and profiles in healthy adolescent girls, (2) to illustrate utility of data reduction approaches novel to cytokine research, (variable-centered [principal factor analysis, PFA], person-centered [latent profile analysis, LPA]), and (3) to demonstrate utility of such methods in linking cytokine profiles to health outcomes (e.g., depressive, anxiety symptoms). Method: Serum was analyzed for 13 cytokines representing adaptive and innate immune responses in 262 girls (age = 11, 13, 15, and 17 years). Results: There was great variation in cytokine concentrations. PFA revealed a four-factor solution explaining 73.13% of the shared variance among 13 cytokines (e.g.,factor 1 included interleukin [IL]-4, IL-13, IL-5, interferon gamma; 26.65% of the shared variance). The LPA supported classifying girls into subgroups characterized by "high overall" (7.3% of sample), "high adaptive" (26.7%), "high innate" (21%), or "low overall" (45%) cytokine levels. Factors and profiles were useful in describing individual differences in depressive/anxiety symptoms (e.g., factor 1 positively associated with depressive symptoms but negatively with trait anxiety; increased depressive symptoms or trait anxiety was associated with greater likelihood of being in the "high adaptive" group). Conclusions: Healthy girls showed differences in cytokine levels and patterns of variation and important associations with psychological variables. PFA and LPA offer novel approaches useful for examining cytokine panels in healthy populations. C1 [Dorn, Lorah D.; Engeland, Christopher G.] Penn State Univ, Coll Nursing, 313 Nursing Sci Bldg, University Pk, PA 16802 USA. [Gayles, Jochebed G.] Penn State Univ, Prevent Res Ctr, 313 Nursing Sci Bldg, University Pk, PA 16802 USA. [Engeland, Christopher G.] Penn State Univ, Dept Biobehav Hlth, 313 Nursing Sci Bldg, University Pk, PA 16802 USA. [Houts, Renate] Duke Univ, Dept Psychol & Neurosci, Durham, NC USA. [Cizza, Giovanni] NICHHD, NIH, Bethesda, MD 20892 USA. [Denson, Lee A.] Cincinnati Childrens Hosp Med Ctr, Pediat Gastroenterol, Cincinnati, OH 45229 USA. [Denson, Lee A.] Univ Cincinnati, Sch Med, Cincinnati, OH USA. RP Dorn, LD (reprint author), Penn State Univ, 313 Nursing Sci Bldg, University Pk, PA 16802 USA. EM dun@psu.edu FU National Institutes of Health [R01 DA 16402, R21 DA025312]; National Center for Research Resources, NIH [8 UL1 TR000077-04]; National Center for Advancing Translational Sciences, NIH [8 UL1 TR000077-04] FX This work was supported in part by funding from the National Institutes of Health (R01 DA 16402, R21 DA025312; PI: Dorn) and by the National Center for Research Resources and the National Center for Advancing Translational Sciences, NIH, through Grant 8 UL1 TR000077-04 given to the Institution. The authors report no conflicts of interest. NR 38 TC 1 Z9 1 U1 1 U2 1 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0033-3174 EI 1534-7796 J9 PSYCHOSOM MED JI Psychosom. Med. PD JUL-AUG PY 2016 VL 78 IS 6 BP 646 EP 656 DI 10.1097/PSY.0000000000000321 PG 11 WC Psychiatry; Psychology; Psychology, Multidisciplinary SC Psychiatry; Psychology GA DR2SU UT WOS:000379755000002 PM 27187849 ER PT J AU Qu, P Wang, LZ Min, YF McKennett, L Keller, JR Lin, PC AF Qu, Peng Wang, Lizhen Min, Yongfen McKennett, Lois Keller, Jonathan R. Lin, P. Charles TI Vav1 Regulates Mesenchymal Stem Cell Differentiation Decision Between Adipocyte and Chondrocyte via Sirt1 SO STEM CELLS LA English DT Article DE Vav1; MSC; Sirt1; Adipogenesis; Chondrogenesis ID AUTOSOMAL SEX REVERSAL; SRY-RELATED GENE; PPAR-GAMMA; CAMPOMELIC DYSPLASIA; ADIPOSE-TISSUE; SOX9; EXPRESSION; FAMILY; DEACETYLATION; ADIPOGENESIS AB Mesenchymal stem cells (MSCs) are multipotent stromal cells residing in the bone marrow. MSCs have the potential to differentiate to adipocytes, chondrocytes, and other types of cells. In this study, we investigated the molecular mechanism that controls MSC cell fate decisions for differentiation. We found that Vav1, a guanine nucleotide exchange factor for Rho GTPase, was highly expressed in MSCs. Interestingly, loss of Vav1 in MSCs led to spontaneous adipogenic but impaired chondrogenic differentiation, and accordingly Vav1 null mice displayed an increase in fat content and a decrease in cartilage. Conversely, ectopic expression of Vav1 in MSCs reversed this phenotype, and led to enhanced MSC differentiation into chondrocyte but retarded adipogenesis. Mechanistically, loss of Vav1 reduced the level of Sirt1, which was responsible for an increase of acetylated PPAR. As acetylation activates PPAR, it increased C/EBP expression and promoted adipogenesis. On the other hand, loss of Vav1 resulted in an increase of acetylated Sox9, a target of Sirt1. As acetylation represses Sox9 activity, it led to a dramatic reduction of collagen 21, a key regulator in chondrocyte differentiation. Finally, we found that Vav1 regulates Sirt1 in MSCs through Creb. Together this study reveals a novel function of Vav1 in regulating MSC cell fate decisions for differentiation through Sirt1. Sirt1 deacetylates PPAR and Sox9, two key mediators that control adipocyte and chondrocyte differentiation. The acetylation status of PPAR and Sox9 has opposite effects on its activity, thereby controlling cell fate decision. Stem Cells2016;34:1934-1946 C1 [Qu, Peng; Wang, Lizhen; Min, Yongfen; Lin, P. Charles] NCI, Canc & Inflammat Program, Ctr Canc Res, Frederick, MD 21701 USA. [McKennett, Lois; Keller, Jonathan R.] NCI, Mouse Canc Genet Program, Ctr Canc Res, Frederick, MD 21701 USA. [Keller, Jonathan R.] Frederick Natl Lab Canc Res, Basic Sci Program, Leidos Biomed Res Inc, Frederick, MD USA. RP Lin, PC (reprint author), NCI, 1050 Boyles St,Bldg 560,Rm 12-32, Frederick, MD 21702 USA. EM p.lin@nih.gov FU Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research; National Cancer Institute, National Institutes of Health [HHSN261200800001E] FX This project was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research, and with Federal funds from the National Cancer Institute, National Institutes of Health, under contract number HHSN261200800001E. We thank the Vanderbilt Mouse Metabolic Phenotyping Center for mouse body fat measurements by NMR. NR 24 TC 1 Z9 1 U1 5 U2 6 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1066-5099 EI 1549-4918 J9 STEM CELLS JI Stem Cells PD JUL PY 2016 VL 34 IS 7 BP 1934 EP 1946 DI 10.1002/stem.2365 PG 13 WC Cell & Tissue Engineering; Biotechnology & Applied Microbiology; Oncology; Cell Biology; Hematology SC Cell Biology; Biotechnology & Applied Microbiology; Oncology; Hematology GA DR4WD UT WOS:000379902900019 PM 26990002 ER PT J AU Birkeland, P Gardner, K Kesse-Adu, R Davies, J Lauritsen, J Poulsen, FR Tolias, CM Thein, SL AF Birkeland, Peter Gardner, Kate Kesse-Adu, Rachel Davies, John Lauritsen, Jens Poulsen, Frantz Rom Tolias, Christos M. Thein, Swee Lay TI Intracranial Aneurysms in Sickle-Cell Disease Are Associated With the Hemoglobin SS Genotype But Not With Moyamoya Syndrome SO STROKE LA English DT Article DE anemia, sickle cell; intracranial aneurysm; moyamoya disease; stroke; subarachnoid hemorrhage ID SUBARACHNOID HEMORRHAGE; ANEMIA; MANAGEMENT; CHILDREN; RISK AB Background and Purpose-Intracranial aneurysms and aneurysmal subarachnoid hemorrhage may occur more frequently in sickle-cell disease (SCD), and this could be related to the sickle genotype and moyamoya syndrome seen in SCD. Methods-Records from a total of 1002 patients with SCD attending 2 specialized adult hematologic services were retrospectively reviewed. We analyzed data of a cohort of 767 patients attending 1 SCD clinic between 2002 and 2013 and of 235 patients from the other clinic who have had neurovascular imaging between 2007 and 2014. Results-We identified 4 patients in the cohort who had an aneurysmal subarachnoid hemorrhage during 9063 patient-years. The highest incidence rate was seen among women in the age group 30 to 39 years with the hemoglobin SS (HbSS) genotype (440 per 100000 patient-years). Unruptured intracranial aneurysms were found in 20 of the 324 patients, who had imaging data; the prevalence was significantly higher in patients with HbSS genotype compared with other sickle genotypes with the highest prevalence (15%) observed in women in the age group 30 to 39 years. Fifty-one HbSS patients had a moyamoya vasculopathy, but only 3 of these had concomitant intracranial aneurysms. Conclusions-Intracranial aneurysms are common in HbSS SCD. There was also a trend toward more common occurrence of aneurysmal subarachnoid hemorrhage in HbSS; women in the age group 30 to 39 years were most at risk. There was no correlation between the occurrence of intracranial aneurysms and moyamoya syndrome. C1 [Birkeland, Peter; Tolias, Christos M.] Kings Coll Hosp London, Dept Neurosurg, London, England. [Birkeland, Peter; Poulsen, Frantz Rom] Odense Univ Hosp, Dept Neurosurg, Sdr Blvd 29, DK-5000 Odense, Denmark. [Lauritsen, Jens] Odense Univ Hosp, Dept Orthopaed Surg, Odense, Denmark. [Gardner, Kate; Thein, Swee Lay] Kings Coll London, Mol Haematol, London, England. [Kesse-Adu, Rachel] Guys & St Thomas Hosp, Dept Haematol, London, England. [Davies, John] Derriford Hosp, Dept Anaesthet, Plymouth, Devon, England. [Lauritsen, Jens; Poulsen, Frantz Rom] Univ Southern Denmark, Inst Clin Res, Odense, Denmark. [Thein, Swee Lay] NHLBI, Sickle Cell Branch, NIH, Bethesda, MD USA. RP Birkeland, P (reprint author), Odense Univ Hosp, Dept Neurosurg, Sdr Blvd 29, DK-5000 Odense, Denmark. EM Peter@Birkeland.dk OI Lauritsen, Jens/0000-0001-9281-8990 NR 14 TC 0 Z9 0 U1 2 U2 3 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0039-2499 EI 1524-4628 J9 STROKE JI Stroke PD JUL PY 2016 VL 47 IS 7 BP 1710 EP 1713 DI 10.1161/STROKEAHA.116.012664 PG 4 WC Clinical Neurology; Peripheral Vascular Disease SC Neurosciences & Neurology; Cardiovascular System & Cardiology GA DR4AX UT WOS:000379844900018 PM 27301940 ER PT J AU Howard, G Moy, CS Howard, VJ McClure, LA Kleindorfer, DO Kissela, BM Judd, SE Unverzagt, FW Soliman, EZ Safford, MM Cushman, M Flaherty, ML Wadley, VG AF Howard, George Moy, Claudia S. Howard, Virginia J. McClure, Leslie A. Kleindorfer, Dawn O. Kissela, Brett M. Judd, Suzanne E. Unverzagt, Fredrick W. Soliman, Elsayed Z. Safford, Monika M. Cushman, Mary Flaherty, Matthew L. Wadley, Virginia G. CA REGARDS Investigators TI Where to Focus Efforts to Reduce the Black-White Disparity in Stroke Mortality: Incidence Versus Case Fatality? SO STROKE LA English DT Article DE blacks; continental population groups; incidence; mortality; stroke ID HEALTH-CARE PROFESSIONALS; AMERICAN-HEART-ASSOCIATION; TRANSIENT ISCHEMIC ATTACK; RACIAL-DIFFERENCES; UNITED-STATES; GEOGRAPHIC DIFFERENCES; RISK-FACTORS; AWARENESS; PREVALENCE; REASONS AB Background and Purpose-At age 45 years, blacks have a stroke mortality approximate to 3x greater than their white counterparts, with a declining disparity at older ages. We assess whether this black-white disparity in stroke mortality is attributable to a black-white disparity in stroke incidence versus a disparity in case fatality. Methods-We first assess if black-white differences in stroke mortality within 29681 participants in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) cohort reflect national black-white differences in stroke mortality and then assess the degree to which black-white differences in stroke incidence or 30-day case fatality after stroke contribute to the disparities in stroke mortality. Results-The pattern of stroke mortality within the study mirrors the national pattern, with the black-to-white hazard ratio of approximate to 4.0 at age 45 years decreasing to approximate to 1.0 at age 85 years. The pattern of black-to-white disparities in stroke incidence shows a similar pattern but no evidence of a corresponding disparity in stroke case fatality. Conclusions-These findings show that the black-white differences in stroke mortality are largely driven by differences in stroke incidence, with case fatality playing at most a minor role. Therefore, to reduce the black-white disparity in stroke mortality, interventions need to focus on prevention of stroke in blacks. C1 [Howard, George; Judd, Suzanne E.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Biostat, Birmingham, AL 35294 USA. [Howard, Virginia J.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35294 USA. [Moy, Claudia S.] NINDS, Off Clin Res, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [McClure, Leslie A.] Drexel Univ, Dornsife Sch Publ Hlth, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA. [Kleindorfer, Dawn O.; Kissela, Brett M.; Flaherty, Matthew L.] Univ Cincinnati, Dept Neurol, Cincinnati, OH 45221 USA. [Unverzagt, Fredrick W.] Indiana Univ, Dept Psychol, Indianapolis, IN 46204 USA. [Soliman, Elsayed Z.] Wake Forest Univ, Bowman Gray Sch Med, Dept Epidemiol, Winston Salem, NC USA. [Safford, Monika M.; Wadley, Virginia G.] Weill Cornell Sch Med, Dept Gen Internal Med, New York, NY USA. [Cushman, Mary] Univ Vermont, Sch Med, Dept Med, Burlington, VT 05405 USA. RP Howard, G (reprint author), Univ Alabama Birmingham, Dept Biostat, Birmingham, AL 35294 USA. EM ghoward@uab.edu OI Kissela, Brett/0000-0002-9773-4013 FU National Institute of Neurological Disorders and Stroke, National Institutes of Health [U01-NS041588] FX This research project was supported by cooperative agreement U01-NS041588 from the National Institute of Neurological Disorders and Stroke, National Institutes of Health. NR 34 TC 1 Z9 1 U1 2 U2 2 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0039-2499 EI 1524-4628 J9 STROKE JI Stroke PD JUL PY 2016 VL 47 IS 7 BP 1893 EP 1898 DI 10.1161/STROKEAHA.115.012631 PG 6 WC Clinical Neurology; Peripheral Vascular Disease SC Neurosciences & Neurology; Cardiovascular System & Cardiology GA DR4AX UT WOS:000379844900046 PM 27256672 ER PT J AU Thanos, PK Malave, L Delis, F Mangine, P Kane, K Grunseich, A Vitale, M Greengard, P Volkow, ND AF Thanos, Panayotis K. Malave, Lauren Delis, Foteini Mangine, Paul Kane, Katie Grunseich, Adam Vitale, Melissa Greengard, Paul Volkow, Nora D. TI Knockout of p11 Attenuates the Acquisition and Reinstatement of Cocaine Conditioned Place Preference in Male but not in Female Mice SO SYNAPSE LA English DT Article DE cocaine; CPP; abstinence; p11 ID NUCLEUS-ACCUMBENS SHELL; VENTRAL TEGMENTAL AREA; 5-HT1B RECEPTOR FUNCTION; HUMAN BRAIN; SEEKING BEHAVIOR; SEX-DIFFERENCES; SEROTONIN(1B) RECEPTORS; SEROTONERGIC MECHANISMS; NEURONAL-ACTIVITY; BINDING AB Cocaine's enhancement of dopamine signaling is crucial for its rewarding effects but its serotonergic effects are also relevant. Here we examined the role of the protein p11, which recruits serotonin 5HT(1B) and 5HT(4) receptors to the cell surface, in cocaine reward. For this purpose we tested wild-type (WT) and p11 knockout (KO) male and female mice for cocaine conditioned place preference (CPP) and its cocaine-induced reinstatement at different abstinence times, after 8 days of extinction and 28 days of being home-caged. All mice showed significant cocaine CPP. Among males, p11KO showed lower CPP than WT; this difference was also evident after 28 days of home-cage abstinence. In contrast, in females there were no CPP differences between p11KO and WT mice at any time point tested. Cocaine priming after the 28-day home-cage abstinence period also resulted in lower cocaine conditioned motor activity in both male and female p11KO mice. These results suggest that cocaine CPP and its persistence during extinction and reinstatement are modulated in a sex-differentiated manner by p11. The lack of protein p11 confers protection from CPP on male, but not female mice, immediately after cocaine conditioning as well as after prolonged abstinence, but not after short-term withdrawal. (C) 2016 Wiley Periodicals, Inc. C1 [Thanos, Panayotis K.; Mangine, Paul; Kane, Katie; Grunseich, Adam; Vitale, Melissa] Univ Buffalo, Res Inst Addict, Behav Neuropharmacol & Neuroimaging Lab Addict, Buffalo, NY USA. [Malave, Lauren] CUNY City Coll, Dept Biol, 138Th St & Convent Ave, New York, NY 10031 USA. [Delis, Foteini] Univ Ioannina, Sch Med, Dept Pharmacol, Ioannina, Greece. [Greengard, Paul] Rockefeller Univ, Lab Mol & Cellular Neurosci, 1230 York Ave, New York, NY 10021 USA. [Volkow, Nora D.] NIAAA, Lab Neuroimaging, NIH, Bethesda, MD USA. RP Thanos, PK (reprint author), Univ Buffalo, Res Inst Addict, Behav Neuropharmacol & Neuroimaging Lab Addict, Buffalo, NY USA. EM pthanos@ria.buffalo.edu FU NIAAA [AA11034] FX Contract grant sponsor: NIAAA; Contract grant number: AA11034. NR 61 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0887-4476 EI 1098-2396 J9 SYNAPSE JI Synapse PD JUL PY 2016 VL 70 IS 7 BP 293 EP 301 DI 10.1002/syn.21904 PG 9 WC Neurosciences SC Neurosciences & Neurology GA DR5TF UT WOS:000379964600004 PM 26990537 ER PT J AU Guerra, V Leister, EC Williams, PL Starc, TJ Lipshultz, SE Wilkinson, JD Van Dyke, RB Hazra, R Colan, SD AF Guerra, Vitor Leister, Erin C. Williams, Paige L. Starc, Thomas J. Lipshultz, Steven E. Wilkinson, James D. Van Dyke, Russell B. Hazra, Rohan Colan, Steven D. CA Pediat HIV AIDS Cohort Study PHACS TI Long-Term Effects of In Utero Antiretroviral Exposure: Systolic and Diastolic Function in HIV-Exposed Uninfected Youth SO AIDS RESEARCH AND HUMAN RETROVIRUSES LA English DT Article ID LEFT-VENTRICULAR MASS; CARDIAC DYSFUNCTION; INFECTED CHILDREN; HEART-FAILURE; THERAPY; INFANTS; ABNORMALITIES; MULTICENTER; CHILDHOOD; TOXICITY AB The aim of this study was to evaluate the association of in utero exposure to highly active antiretroviral therapy (HAART) with left ventricular (LV) function and structure in HIV-exposed uninfected (HEU) children. A prospective, multisite cohort study in HEU children was conducted by the Pediatric HIV/AIDS Cohort Study (PHACS). Echocardiographic measures of LV systolic and diastolic function and cardiac structure were obtained from HEU subjects aged >= 6 years enrolled in the PHACS Surveillance Monitoring of ART Toxicities study. Echocardiographic Z-scores were calculated using normative data from an established reference cohort. We used adjusted linear regression models to compare Z-scores for echocardiographic measures from HEU children exposed in utero to HAART with those exposed to non-HAART, adjusting for demographic and maternal health characteristics. One hundred seventy-four HEU subjects with echocardiograms and maternal ARV information were included (mean age 10.9 years; 48% male, 56% black non-Hispanic). Among 156 HEU youth with any ARV exposure, we observed no differences in Z-scores for LV systolic function measures between youth exposed in utero to HAART (39%) and HAART-unexposed youth in either unadjusted or adjusted models. In adjusted models, those exposed to HAART had significantly lower mitral late diastolic inflow velocities (adjusted mean Z-score = 0.00 vs. 0.52, p = .04) and significantly higher adjusted mean LV mass-to-volume ratio Z-scores (adjusted mean Z-score = 0.47 vs. 0.11, p = .03) than HAART-unexposed youth. Uninfected children with perinatal exposure to HAART had no difference in LV systolic function. However, small but significant differences in LV diastolic function and cardiac structure were observed, suggesting that continued monitoring for cardiac outcomes is warranted in this population. C1 [Guerra, Vitor; Van Dyke, Russell B.] Tulane Univ, Sch Med, Dept Pediat, Mailcode 8408 1440 Canal St,Suite 1600, New Orleans, LA 70112 USA. [Leister, Erin C.; Williams, Paige L.] Harvard TH Chan Sch Publ Hlth, Ctr Biostat AIDS Res, Boston, MA USA. [Starc, Thomas J.] Columbia Univ, Med Ctr, New York, NY USA. [Lipshultz, Steven E.; Wilkinson, James D.] Wayne State Univ, Sch Med, Detroit, MI USA. [Lipshultz, Steven E.; Wilkinson, James D.] Childrens Hosp Michigan, Detroit, MI 48201 USA. [Hazra, Rohan] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA. [Colan, Steven D.] Harvard Med Sch, Boston, MA USA. [Colan, Steven D.] Boston Childrens Hosp, Boston, MA USA. RP Van Dyke, RB (reprint author), Tulane Univ, Sch Med, Dept Pediat, Mailcode 8408 1440 Canal St,Suite 1600, New Orleans, LA 70112 USA. EM vandyke@tulane.edu FU Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institute of Allergy and Infectious Diseases; Office of AIDS Research; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; National Heart, Lung, and Blood Institute; National Institute of Dental and Craniofacial Research; National Institute on Alcohol Abuse and Alcoholism, through Harvard T. H. Chan School of Public Health [HD052102, 3 U01 HD052102-05S1, 3 U01 HD052102-06S3]; Tulane University School of Medicine [HD052104, 3U01HD052104-06S1] FX The authors thank the children and families for their participation in PHACS and the individuals and institutions involved in the conduct of PHACS. The study was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development with cofunding from the National Institute on Drug Abuse, the National Institute of Allergy and Infectious Diseases, the Office of AIDS Research, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Deafness and Other Communication Disorders, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, and the National Institute on Alcohol Abuse and Alcoholism, through cooperative agreements with the Harvard T. H. Chan School of Public Health (HD052102, 3 U01 HD052102-05S1, 3 U01 HD052102-06S3) and the Tulane University School of Medicine (HD052104, 3U01HD052104-06S1). Data management services were provided by Frontier Science and Technology Research Foundation, and regulatory services and logistical support were provided by Westat, Inc. The Pediatric HIV/AIDS Cohort Study (PHACS) was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development with cofunding from the National Institute on Drug Abuse, the National Institute of Allergy and Infectious Diseases, the Office of AIDS Research, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Deafness and Other Communication Disorders, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, and the National Institute on Alcohol Abuse and Alcoholism, through cooperative agreements with the Harvard T. H. Chan School of Public Health (HD052102, 3 U01 HD052102-05S1, 3 U01 HD052102-06S3) and the Tulane University School of Medicine (HD052104, 3U01HD052104-06S1). NIH representatives were part of the study team and therefore the sponsor was involved in study design, coordination, data collection, data analysis, data interpretation, and writing of the report. The corresponding author had full access to all the data in the study and had final responsibility for the decision to submit for publication. NR 19 TC 0 Z9 0 U1 2 U2 2 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 0889-2229 EI 1931-8405 J9 AIDS RES HUM RETROV JI Aids Res. Hum. Retrovir. PD JUL PY 2016 VL 32 IS 7 BP 621 EP + DI 10.1089/aid.2015.0281 PG 8 WC Immunology; Infectious Diseases; Virology SC Immunology; Infectious Diseases; Virology GA DR0PJ UT WOS:000379609100001 PM 26794032 ER PT J AU Jacobson, JM Bosinger, SE Kang, M Belaunzaran-Zamudio, P Matining, RM Wilson, CC Flexner, C Clagett, B Plants, J Read, S Purdue, L Myers, L Boone, L Tebas, P Kumar, P Clifford, D Douek, D Silvestri, G Landay, AL Lederman, MM AF Jacobson, Jeffrey M. Bosinger, Steven E. Kang, Minhee Belaunzaran-Zamudio, Pablo Matining, Roy M. Wilson, Cara C. Flexner, Charles Clagett, Brian Plants, Jill Read, Sarah Purdue, Lynette Myers, Laurie Boone, Linda Tebas, Pablo Kumar, Princy Clifford, David Douek, Daniel Silvestri, Guido Landay, Alan L. Lederman, Michael M. CA AIDS Clinical Trial Grp A5258 Prot TI The Effect of Chloroquine on Immune Activation and Interferon Signatures Associated with HIV-1 SO AIDS RESEARCH AND HUMAN RETROVIRUSES LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; T-CELL-ACTIVATION; RECEIVING ANTIRETROVIRAL THERAPY; PLACEBO-CONTROLLED TRIAL; INFECTED PATIENTS; MICROBIAL TRANSLOCATION; RHESUS MACAQUES; VIRAL LOAD; HYDROXYCHLOROQUINE; DISEASE AB Immune activation associated with HIV-1 infection contributes to morbidity and mortality. We studied whether chloroquine, through Toll-like receptor (TLR) antagonist properties, could reduce immune activation thought to be driven by TLR ligands, such as gut-derived bacterial elements and HIV-1 RNAs. AIDS Clinical Trials Group A5258 was a randomized, double-blind, placebo-controlled study in 33 HIV-1-infected participants off anti-retroviral therapy (ART) and 37 participants on ART. Study participants in each cohort were randomized 1:1 to receive chloroquine 250 mg orally for the first 12 weeks then cross over to placebo for 12 weeks or placebo first and then chloroquine. Combining the periods of chloroquine use in both arms of the on-ART cohort yielded a modest reduction in the proportions of CD8 T cells co-expressing CD38 and DR (median decrease = 3.0%, p = .003). The effect on immune activation in the off-ART cohort was likely confounded by increased plasma HIV-1 RNA during chloroquine administration (median 0.29 log10 increase, p < .001). Transcriptional analyses in the off-ART cohort showed decreased expression of interferon-stimulated genes in 5 of 10 chloroquine-treated participants and modest decreases in CD38 and CCR5 RNAs in all chloroquine-treated participants. Chloroquine modestly reduced immune activation in ART-treated HIV-infected participants. Clinical Trials Registry Number: NCT00819390. C1 [Jacobson, Jeffrey M.] Drexel Univ, Coll Med, 245 North 15th St MS 461, Philadelphia, PA 19102 USA. [Bosinger, Steven E.; Silvestri, Guido] Emory Univ, Atlanta, GA 30322 USA. [Kang, Minhee; Matining, Roy M.] Harvard Univ, Sch Publ Hlth, 665 Huntington Ave, Boston, MA 02115 USA. [Belaunzaran-Zamudio, Pablo] Johns Hopkins Univ, Sch Publ Hlth, Baltimore, MD USA. [Wilson, Cara C.] Univ Colorado, Denver, CO 80202 USA. [Flexner, Charles] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. [Clagett, Brian; Lederman, Michael M.] Case Western Reserve Univ, Cleveland, OH 44106 USA. [Plants, Jill; Landay, Alan L.] Rush Univ, Sch Med, Chicago, IL 60612 USA. [Read, Sarah; Purdue, Lynette] NIAID, Div Aids, Bethesda, MD 20892 USA. [Myers, Laurie] Frontier Sci, Amherst, NY USA. [Boone, Linda] Social & Sci Syst Inc, Silver Spring, MD USA. [Tebas, Pablo] Univ Penn, Sch Med, Philadelphia, PA 19104 USA. [Kumar, Princy] Georgetown Univ, Sch Med, Washington, DC USA. [Clifford, David] Washington Univ, Sch Med, St Louis, MO USA. [Douek, Daniel] NIAID, Vaccine Res Ctr, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Jacobson, JM (reprint author), Drexel Univ, Coll Med, 245 North 15th St MS 461, Philadelphia, PA 19102 USA. EM jeffrey.jacobson@drexelmed.edu FU National Institute of Allergy and Infectious Diseases of the National Institutes of Health [UM1 AI068634, AI068636, AI76174, AI36219, UM1 AI106701] FX We are indebted to Pamela Fried for editorial assistance, the clinicians who referred patients to the study, and patients who participated. This work was supported by the National Institute of Allergy and Infectious Diseases of the National Institutes of Health (Award Numbers UM1 AI068634, AI068636, AI76174, AI36219, and UM1 AI106701). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. AIDS Clinical Trial Group Site Grant Numbers: Case CRS (Site 2501) Grant UM1 AI069501; MetroHealth CRS (Site 2503) Grant UM1 AI 6950742; Penn Therapeutics CRS (Site 6201) Grant UM1 AI069534-09; Georgetown University CRS (Site 1008) Grant UM1 AI069494, CFAR P30-AI045008-17; Washington University in St. Louis CRS (Site 2101) Grant U01 AI69439; Johns Hopkins University CRS (Site 0201) Grant 2UM1 AI069465, UL1TR001079, Institute for Clinical and Translational Research; University of Pittsburgh CRS (Site 1001) Grant UM1AI069494; Vanderbilt University CRS (Site 3652) Grant AI069439, TR000445; University of Colorado CRS (Site 6101) Grant AI069432, UL1 TR001082; Chapel Hill CRS (Site 3201) Grants UM1 AI069423, CTSA: UL1TR001111, CFAR: P30 AI050410; Alabama CRS (Site 31788) Grant 5UM1AI069452-10; UC San Diego CRS (Site 701) Grant AI069432; Weill Cornell-Chelsea CRS (Site 7804) GrantUM1AI069419, UL1TR000457; Massachusetts General Hospital CRS (Site 101) Grant 2UM1AI069412-08; University of Cincinnati CRS (Site 2401) Grant UM1AI068636. We would also like to acknowledge the following additional investigators at participating sites: Case CRS: Kristen Allen, RN and Jane Baum RN; MetroHealth: Kim Whitely, RN and Traci Davis, RN; CRS-Penn Therapeutics: Wayne Wagner, RN; GeorgetownUniversity CRS: JosephG Timpone, Jr, MD; Washington University in St Louis CRS: Michael Klebert, PhD and Michael Royal, RPh; Johns Hopkins University CRS: Ilene Wiggins, RN and Andrea Weiss, BPharm; University of Pittsburgh CRS: Deborah McMahon, MD and Renee Weinman, BS CCRP; Vanderbilt University CRS: Marcia Free, RN and Michael Morgan, RN, FNP; University of Colorado CRS: M Graham Ray, RN and Thomas B Campbell, MD; Chapel Hill CRS: Jonathan Oakes, BA and Susan Blevins, MS ANP; Alabama CRS: Elizabeth Lindsey, RN and Kamellia Safavy, MSc; UC San Diego CRS: Kathleen Nuffer, NP and Dee Dee Pacheco; Weill Cornell-Chelsea CRS: Valery Hughes, NP and Todd Stroberg, RN; Massachusetts General Hospital CRS: Teri Flynn, ANP-BC and Amy Sbrolla, RN BSN; University of Cincinnati CRS: Eva Whitehead, RN, BSN and Carl J. Fichtenbaum, MD. NR 45 TC 0 Z9 0 U1 1 U2 1 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 0889-2229 EI 1931-8405 J9 AIDS RES HUM RETROV JI Aids Res. Hum. Retrovir. PD JUL PY 2016 VL 32 IS 7 BP 636 EP 647 DI 10.1089/aid.2015.0336 PG 12 WC Immunology; Infectious Diseases; Virology SC Immunology; Infectious Diseases; Virology GA DR0PJ UT WOS:000379609100003 PM 26935044 ER PT J AU Petersen, T Lee, YJ Osinusi, A Amorosa, VK Wang, C Kang, M Matining, R Zhang, X Dou, DN Umbleja, T Kottilil, S Peters, MG AF Petersen, Tess Lee, Yu-Jin Osinusi, Anu Amorosa, Valerianna K. Wang, Crystal Kang, Minhee Matining, Roy Zhang, Xiao Dou, Diana Umbleja, Triin Kottilil, Shyam Peters, Marion G. TI Interferon Stimulated Gene Expression in HIV/HCV Coinfected Patients Treated with Nitazoxanide/Peginterferon-Alfa-2a and Ribavirin SO AIDS RESEARCH AND HUMAN RETROVIRUSES LA English DT Article ID HEPATITIS-C VIRUS; HUMAN-IMMUNODEFICIENCY-VIRUS; NITAZOXANIDE; TIZOXANIDE; PHARMACOKINETICS; INFECTION; HCV AB A combination of nitazoxanide (NTZ), peginterferon (PegIFN), and ribavirin (RBV) may result in higher sustained virologic response (SVR) rates in hepatitis C virus (HCV) monoinfected patients. This study evaluated the effect of NTZ on interferon-stimulated gene (ISG) expression in vitro and in vivo among HIV/HCV genotype-1 (GT-1) treatment-naive patients. The ability of NTZ to enhance host response to interferon (IFN) signaling using the HCV cell culture system was initially evaluated. Second, ISG expression in 53 patients with treatment outcomes [21 SVR and 32 nonresponders (NR)] in the ACTG A5269 trial, a phase-II study (4-week lead in of NTZ 500mg daily followed by 48 weeks of NTZ, PegIFN, and weight-based RBV), was assessed. The relative expression of 48 ISGs in peripheral blood mononuclear cells (PBMCs) was measured at baseline, week 4, and week 8 of treatment in a blinded manner. In vitro NTZ produced a direct and additive antiviral effect with IFN-alfa, with pretreatment of NTZ resulting in maximal HCV suppression. NTZ augmented IFN-mediated ISG induction in PBMCs from relapsers and SVRs (p < 0.05), but not NR. In ACTG A5269, baseline expression of most ISGs was similar between NR and SVR. NTZ minimally induced 17 genes in NR and 13 genes in SVR after 4 weeks of therapy. However, after initiation of PegIFN and RBV, ISG induction was predominantly observed in the SVR group and not NR group. NTZ treatment facilitates IFN-induced suppression of HCV replication. Inability to achieve SVR with IFN-based therapy in this clinical trial is associated with diminished ISG response to therapy that is refractory to NTZ. C1 [Petersen, Tess; Lee, Yu-Jin; Osinusi, Anu; Wang, Crystal; Zhang, Xiao; Dou, Diana; Kottilil, Shyam] NIAID, Immunoregulat Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Osinusi, Anu; Kottilil, Shyam] Univ Maryland, Sch Med, Inst Human Virol, Div Clin Care & Res, 725 West Lombard St,Room S222, Baltimore, MD 21201 USA. [Osinusi, Anu] Gilead Sci Inc, 353 Lakeside Dr, Foster City, CA 94404 USA. [Amorosa, Valerianna K.] Philadelphia Vet Affairs Med Ctr, Philadelphia, PA USA. [Amorosa, Valerianna K.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA. [Kang, Minhee; Matining, Roy; Umbleja, Triin] Harvard Sch Publ Hlth, Boston, MA USA. [Peters, Marion G.] Univ Calif San Francisco, San Francisco, CA 94143 USA. RP Kottilil, S (reprint author), Univ Maryland, Sch Med, Inst Human Virol, Div Clin Care & Res, 725 West Lombard St,Room S222, Baltimore, MD 21201 USA. EM Skottilil@ihv.umaryland.edu FU ACTG Network Leadership Grant [1U01AI068636]; ACTG Statistical and Data Management Center Grant [1U01AI068634]; UAB VSL grant [NIH/NIAID 7UM1AI068636]; Intramural Research Program of the NIAID, National Institutes of Health [AI000390] FX ACTG A5269 members and funding: ACTG Network Leadership Grant 1U01AI068636. ACTG Statistical and Data Management Center Grant 1U01AI068634. For HCV RNA and HCV genotyping efforts performed at Dr. Victoria A. Johnson's UAB Virology Laboratory 54: James Darren Hazelwood. UAB VSL grant (NIH/NIAID 7UM1AI068636).; This research was supported in part with federal funds from the Intramural Research Program of the NIAID, National Institutes of Health (AI000390). NR 21 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 0889-2229 EI 1931-8405 J9 AIDS RES HUM RETROV JI Aids Res. Hum. Retrovir. PD JUL PY 2016 VL 32 IS 7 BP 660 EP 667 DI 10.1089/aid.2015.0236 PG 8 WC Immunology; Infectious Diseases; Virology SC Immunology; Infectious Diseases; Virology GA DR0PJ UT WOS:000379609100007 PM 26974581 ER PT J AU Litten, RZ Falk, DE Ryan, ML Fertig, JB AF Litten, Raye Z. Falk, Daniel E. Ryan, Megan L. Fertig, Joanne B. TI Discovery, Development, and Adoption of Medications to Treat Alcohol Use Disorder: Goals for the Phases of Medications Development SO ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH LA English DT Review DE Medications Development; Alcohol Use Disorder; Phases of Drug Development; Personalized Medicine; Drug Development Pipeline ID PLACEBO-CONTROLLED TRIAL; CLINICAL-TRIALS; DEPENDENT PATIENTS; DOUBLE-BLIND; RESEARCH OPPORTUNITIES; PERSONALIZED TREATMENT; EXPLORATORY ANALYSIS; NALTREXONE RESPONSE; PRECISION MEDICINE; ANIMAL-MODELS AB For more than 25years, advances have been made in developing medications to treat alcohol use disorder (AUD), highlighted by the U.S. Food and Drug Administration's approval of naltrexone (oral and long-acting) and acamprosate. Despite this progress, more work remains to be done in this area because these medications, although effective for some people, do not work for everyone. A high priority for the National Institute on Alcohol Abuse and Alcohol is to put into place a solid infrastructure to aid in the development of medications that are more effective than those currently available and with few side effects. Medication development, especially for a disorder as complex as AUD, is challenging and involves multiple phases, including discovery of druggable targets, preclinical studies, human clinical trials, and the adoption and implementation of the new medication into mainstream medicine. A successful medications development program requires clearly established goals for each phase to ensure that a candidate compound is not trapped in one particular phase, a condition known as the valley of death. In this article, the phases of medication development are described as they apply to AUD, and specific goals of each phase are identified for the next decade. In addition, several important crosscutting themes are outlined for each phase, all of which are essential for advancing medications development. These include identifying and validating screening models and druggable targets, making use of precision medicine, and establishing partnerships among key stakeholders. Our goal in writing this article is to provide a guide on medications development that will aid the alcohol research community in planning, testing, and developing medications for AUD. C1 [Litten, Raye Z.; Falk, Daniel E.; Ryan, Megan L.; Fertig, Joanne B.] NIAAAs Clin Invest Grp NCIG, Bethesda, MD USA. [Litten, Raye Z.] NIAAA, Div Medicat Dev, 5635 Fishers Lane, Bethesda, MD 20892 USA. RP Litten, RZ (reprint author), NIAAA, Div Medicat Dev, 5635 Fishers Lane, Bethesda, MD 20892 USA. EM rlitten@mail.nih.gov FU Intramural NIH HHS [Z99 AA999999] NR 69 TC 1 Z9 1 U1 3 U2 6 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0145-6008 EI 1530-0277 J9 ALCOHOL CLIN EXP RES JI Alcoholism (NY) PD JUL PY 2016 VL 40 IS 7 BP 1368 EP 1379 DI 10.1111/acer.13093 PG 12 WC Substance Abuse SC Substance Abuse GA DR3OG UT WOS:000379811900001 PM 27184259 ER PT J AU Hallgren, KA Witkiewitz, K Kranzler, HR Falk, DE Litten, RZ O'Malley, SS Anton, RF AF Hallgren, Kevin A. Witkiewitz, Katie Kranzler, Henry R. Falk, Daniel E. Litten, Raye Z. O'Malley, Stephanie S. Anton, Raymond F. CA Conjunction Alcohol Clinical Trial TI Missing Data in Alcohol Clinical Trials with Binary Outcomes SO ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH LA English DT Article DE Alcohol Clinical Trials; Missing Data; Multiple Imputation; Simulation Study; Naltrexone ID RANDOMIZED CONTROLLED-TRIAL; MULTIPLE-IMPUTATION; DEPENDENCE; INTERVENTIONS; STRATEGIES; DROPOUT AB BackgroundMissing data are common in alcohol clinical trials for both continuous and binary end points. Approaches to handle missing data have been explored for continuous outcomes, yet no studies have compared missing data approaches for binary outcomes (e.g., abstinence, no heavy drinking days). This study compares approaches to modeling binary outcomes with missing data in the COMBINE study. MethodsWe included participants in the COMBINE study who had complete drinking data during treatment and who were assigned to active medication or placebo conditions (N=1,146). Using simulation methods, missing data were introduced under common scenarios with varying sample sizes and amounts of missing data. Logistic regression was used to estimate the effect of naltrexone (vs. placebo) in predicting any drinking and any heavy drinking outcomes at the end of treatment using 4 analytic approaches: complete case analysis (CCA), last observation carried forward (LOCF), the worst case scenario (WCS) of missing equals any drinking or heavy drinking, and multiple imputation (MI). In separate analyses, these approaches were compared when drinking data were manually deleted for those participants who discontinued treatment but continued to provide drinking data. ResultsWCS produced the greatest amount of bias in treatment effect estimates. MI usually yielded less biased estimates than WCS and CCA in the simulated data and performed considerably better than LOCF when estimating treatment effects among individuals who discontinued treatment. ConclusionsMissing data can introduce bias in treatment effect estimates in alcohol clinical trials. Researchers should utilize modern missing data methods, including MI, and avoid WCS and CCA when analyzing binary alcohol clinical trial outcomes. C1 [Hallgren, Kevin A.] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Witkiewitz, Katie] Univ New Mexico, Dept Psychol, Ctr Alcoholism Subst Abuse & Addict, Albuquerque, NM 87131 USA. [Kranzler, Henry R.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA. [Kranzler, Henry R.] Univ Penn, Ctr Studies Addict, Perelman Sch Med, Philadelphia, PA 19104 USA. [Kranzler, Henry R.] Crescenz Philadelphia VAMC, VISN MIRECC 4, Philadelphia, PA USA. [Falk, Daniel E.; Litten, Raye Z.] NIAAA, Rockville, MD 20852 USA. [O'Malley, Stephanie S.] Yale Sch Med, Dept Psychiat, New Haven, CT USA. [Anton, Raymond F.] Med Univ S Carolina, Dept Psychiat, Addict Sci Div, Charleston, SC 29425 USA. RP Hallgren, KA (reprint author), 1959 NE Pacific St,Box 356560, Seattle, WA 98195 USA. EM khallgre@uw.edu FU NIAAA [T32AA007455, R01AA022328]; Abbvie; Alkermes; Ethypharm; Lilly; Lundbeck; Pfizer FX Support for this research was provided by NIAAA grants T32AA007455 and R01AA022328. Dr. Kranzler has been a consultant, advisory group member, or CME lecturer for Alkermes, Lundbeck, Otsuka, and Indivior. Dr. Witkiewitz has been a consultant for Alkermes. Drs. Witkiewitz, Kranzler, Falk, Litten, O'Malley, and Anton are members of the American Society of Clinical Psychopharmacology's Alcohol Clinical Trials (ACTIVE) Group, which is supported by Abbvie, Alkermes, Ethypharm, Lilly, Lundbeck, and Pfizer. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. We the authors also declare no conflicts of interest in this work. NR 37 TC 2 Z9 2 U1 2 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0145-6008 EI 1530-0277 J9 ALCOHOL CLIN EXP RES JI Alcoholism (NY) PD JUL PY 2016 VL 40 IS 7 BP 1548 EP 1557 DI 10.1111/acer.13106 PG 10 WC Substance Abuse SC Substance Abuse GA DR3OG UT WOS:000379811900021 PM 27254113 ER PT J AU Vargas, AJ Neuhouser, ML George, SM Thomson, CA Ho, GYF Rohan, TE Kato, I Nassir, R Hou, LF Manson, JE AF Vargas, Ashley J. Neuhouser, Marian L. George, Stephanie M. Thomson, Cynthia A. Ho, Gloria Y. F. Rohan, Thomas E. Kato, Ikuko Nassir, Rami Hou, Lifang Manson, JoAnn E. TI Diet Quality and Colorectal Cancer Risk in the Women's Health Initiative Observational Study SO AMERICAN JOURNAL OF EPIDEMIOLOGY LA English DT Article DE Alternative Healthy Eating Index; Alternative Mediterranean Diet; colorectal cancer; diet; diet quality; Dietary Approaches to Stop Hypertension; dietary patterns; Healthy Eating Index ID CORONARY-HEART-DISEASE; POSTMENOPAUSAL WOMEN; INFLAMMATORY INDEX; CLINICAL-TRIAL; DASH DIET; EPIDEMIOLOGIC EVIDENCE; BLOOD-PRESSURE; MORTALITY; PATTERNS; QUESTIONNAIRE AB Diet quality index scores on Healthy Eating Index 2010 (HEI-2010), Alternative HEI-2010, alternative Mediterranean Diet Index, and the Dietary Approaches to Stop Hypertension (DASH) index have been inversely associated with all-cause and cancer-specific death. This study assessed the association between these scores and colorectal cancer (CRC) incidence as well as CRC-specific mortality in the Women's Health Initiative Observational Study (1993-2012), a US study of postmenopausal women. During an average of 12.4 years of follow-up, there were 938 cases of CRC and 238 CRC-specific deaths. We estimated multivariate hazard ratios and 95% confidence intervals for relationships between quintiles of diet scores (from baseline food frequency questionnaires) and outcomes. HEI-2010 score (hazard ratios were 0.81, 0.77, and 0.73 with italic toggle="yes"P values of 0.04, 0.01, and < 0.01 for quintiles 3-5 vs. quintile 1, respectively) and DASH score (hazard ratios were 0.72, 0.74, and 0.78 with italic toggle="yes"P values of < 0.01, < 0.01, and 0.03 for quintiles 3-5 vs. quintile 1, respectively), but not other diet scores, were associated with a lower risk of CRC in adjusted models. No diet scores were significantly associated with CRC-specific mortality. Closer adherence to HEI-2010 and DASH dietary recommendations was inversely associated with risk of CRC in this large cohort of postmenopausal women. C1 [Vargas, Ashley J.; Neuhouser, Marian L.; George, Stephanie M.; Thomson, Cynthia A.; Ho, Gloria Y. F.; Rohan, Thomas E.; Kato, Ikuko; Nassir, Rami; Hou, Lifang; Manson, JoAnn E.] Harvard Med Sch, Brigham & Womens Hosp, Div Prevent Med, Dept Med, 900 Commonwealth Ave East,Third Floor, Boston, MA 02215 USA. [Vargas, Ashley J.] NCI, Canc Prevent Fellowship Program, Rockville, MD USA. [Vargas, Ashley J.] Harvard Univ, Dept Biostat, Harvard TH Chan Sch Publ Hlth, Boston, MA 02115 USA. [Neuhouser, Marian L.] Fred Hutchinson Canc Res Ctr, Canc Prevent Program, Seattle, WA USA. [George, Stephanie M.] NIH, Off Dis Prevent, Off Director, Rockville, MD USA. [Thomson, Cynthia A.] Univ Arizona, Canyon Ranch Ctr Prevent & Hlth Promot, Mel & Enid Zuckerman Coll Publ Hlth, Tucson, AZ USA. [Ho, Gloria Y. F.] Hofstra Northwell Sch Med, Dept Occupat Med Epidemiol & Prevent, Hempstead, NY USA. [Rohan, Thomas E.] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, New York, NY USA. [Kato, Ikuko] Wayne State Univ, Sch Med, Dept Oncol, Detroit, MI USA. [Kato, Ikuko] Wayne State Univ, Sch Med, Dept Pathol, Detroit, MI 48201 USA. [Nassir, Rami] Univ Calif Davis, Dept Biochem & Mol Med, Sch Med, Davis, CA 95616 USA. [Hou, Lifang] Northwestern Univ, Dept Prevent Med, Feinberg Sch Med, Chicago, IL 60611 USA. RP Manson, JE (reprint author), Harvard Med Sch, Brigham & Womens Hosp, Div Prevent Med, Dept Med, 900 Commonwealth Ave East,Third Floor, Boston, MA 02215 USA. EM jmanson@rics.bwh.harvard.edu FU National Heart, Lung, and Blood Institute [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C]; National Cancer Institute Cancer Prevention Fellowship Program FX The Women's Health Initiative (WHI) is funded by the National Heart, Lung, and Blood Institute through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C. Additional support was provided by the National Cancer Institute Cancer Prevention Fellowship Program. NR 44 TC 3 Z9 3 U1 8 U2 8 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9262 EI 1476-6256 J9 AM J EPIDEMIOL JI Am. J. Epidemiol. PD JUL 1 PY 2016 VL 184 IS 1 BP 23 EP 32 DI 10.1093/aje/kwv304 PG 10 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA DR2UV UT WOS:000379760300004 PM 27267948 ER PT J AU Hatfield, DL AF Hatfield, Dolph L. TI Redox Pioneer: Professor Vadim N. Gladyshev SO ANTIOXIDANTS & REDOX SIGNALING LA English DT Biographical-Item AB Professor Vadim N. Gladyshev is recognized here as a Redox Pioneer, because he has published an article on antioxidant/redox biology that has been cited more than 1000 times and 29 articles that have been cited more than 100 times. Gladyshev is world renowned for his characterization of the human selenoproteome encoded by 25 genes, identification of the majority of known selenoprotein genes in the three domains of life, and discoveries related to thiol oxidoreductases and mechanisms of redox control. Gladyshev's first faculty position was in the Department of Biochemistry, the University of Nebraska. There, he was a Charles Bessey Professor and Director of the Redox Biology Center. He then moved to the Department of Medicine at Brigham and Women's Hospital, Harvard Medical School, where he is Professor of Medicine and Director of the Center for Redox Medicine. His discoveries in redox biology relate to selenoenzymes, such as methionine sulfoxide reductases and thioredoxin reductases, and various thiol oxidoreductases. He is responsible for the genome-wide identification of catalytic redox-active cysteines and for advancing our understanding of the general use of cysteines by proteins. In addition, Gladyshev has characterized hydrogen peroxide metabolism and signaling and regulation of protein function by methionine-R-sulfoxidation. He has also made important contributions in the areas of aging and lifespan control and pioneered applications of comparative genomics in redox biology, selenium biology, and aging. Gladyshev's discoveries have had a profound impact on redox biology and the role of redox control in health and disease. He is a true Redox Pioneer. C1 [Hatfield, Dolph L.] NCI, Mol Biol Selenium Sect, Mouse Canc Genet Program, NIH, Bethesda, MD 20892 USA. RP Hatfield, DL (reprint author), NCI, Mol Biol Selenium Sect, Mouse Canc Genet Program, NIH, Bethesda, MD 20892 USA. EM hatfield@mail.nih.gov NR 1 TC 0 Z9 0 U1 2 U2 2 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1523-0864 EI 1557-7716 J9 ANTIOXID REDOX SIGN JI Antioxid. Redox Signal. PD JUL 1 PY 2016 VL 25 IS 1 BP 1 EP 9 DI 10.1089/ars.2015.6625 PG 9 WC Biochemistry & Molecular Biology; Endocrinology & Metabolism SC Biochemistry & Molecular Biology; Endocrinology & Metabolism GA DQ8ZI UT WOS:000379499800001 PM 26984707 ER PT J AU Nakamura, Y Nagaya, T Sato, K Harada, T Okuyama, S Choyke, PL Yamauchi, T Kobayashi, H AF Nakamura, Yuko Nagaya, Tadanobu Sato, Kazuhide Harada, Toshiko Okuyama, Shuhei Choyke, Peter L. Yamauchi, Toyohiko Kobayashi, Hisataka TI Alterations of filopodia by near infrared photoimmunotherapy: evaluation with 3D low-coherent quantitative phase microscopy SO BIOMEDICAL OPTICS EXPRESS LA English DT Article ID CANCER-CELL; IN-VIVO; LABEL-FREE; FLUORESCENT-PROTEIN; STEM-CELLS; LIVE MICE; MIGRATION; INVASION; MOUSE; DEATH AB Filopodia are highly organized cellular membrane structures that facilitate intercellular communication. Near infrared photoimmunotherapy (NIR-PIT) is a newly developed cancer treatment that causes necrotic cell death. Three-dimensional low-coherent quantitative phase microscopy (3D LC-QPM) is based on a newly established low-coherent interference microscope designed to obtain serial topographic images of the cellular membrane. Herein, we report rapid involution of filopodia after NIR-PIT using 3D LC-QPM. For 3T3/HER2 cells, the number of filopodia decreased immediately after treatment with significant differences. Volume and relative height of 3T3/HER2 cells increased immediately after NIR light exposure, but significant differences were not observed. Thus, disappearance of filopodia, evaluated by 3D LC-QPM, is an early indicator of cell membrane damage after NIR-PIT. (C) 2016 Optical Society of America C1 [Nakamura, Yuko; Nagaya, Tadanobu; Sato, Kazuhide; Harada, Toshiko; Okuyama, Shuhei; Choyke, Peter L.; Kobayashi, Hisataka] NCI, Mol Imaging Program, Ctr Canc Res, NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. [Yamauchi, Toyohiko] Hamamatsu Photon KK, Cent Res Lab, Hamakita Ku, 5000 Hirakuchi, Hamamatsu, Shizuoka 4348601, Japan. RP Kobayashi, H (reprint author), NCI, Mol Imaging Program, Ctr Canc Res, NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. EM kobayash@mail.nih.gov FU Intramural Research Program of the National Institute of Health, National Cancer Institute, Center for Cancer Research FX This research was supported by the Intramural Research Program of the National Institute of Health, National Cancer Institute, Center for Cancer Research. NR 33 TC 0 Z9 0 U1 2 U2 2 PU OPTICAL SOC AMER PI WASHINGTON PA 2010 MASSACHUSETTS AVE NW, WASHINGTON, DC 20036 USA SN 2156-7085 J9 BIOMED OPT EXPRESS JI Biomed. Opt. Express PD JUL 1 PY 2016 VL 7 IS 7 BP 2738 EP 2748 DI 10.1364/BOE.7.002738 PG 11 WC Biochemical Research Methods; Optics; Radiology, Nuclear Medicine & Medical Imaging SC Biochemistry & Molecular Biology; Optics; Radiology, Nuclear Medicine & Medical Imaging GA DR2UC UT WOS:000379758400024 PM 27446702 ER PT J AU Lei, H Johnson, LA Liu, SC Moons, DS Ma, T Zhou, QF Rice, MD Ni, J Wang, XD Higgins, PDR Xu, G AF Lei, Hao Johnson, Laura A. Liu, Shengchun Moons, David S. Ma, Teng Zhou, Qifa Rice, Michael D. Ni, Jun Wang, Xueding Higgins, Peter D. R. Xu, Guan TI Characterizing intestinal inflammation and fibrosis in Crohn's disease by photoacoustic imaging: feasibility study SO BIOMEDICAL OPTICS EXPRESS LA English DT Article ID OPTICAL COHERENCE TOMOGRAPHY; SMALL-BOWEL; BIOLOGICAL TISSUES; ANIMAL-MODEL; ULTRASOUND; STRICTURES; POPULATION; MEDIA AB The pathology of Crohn's disease (CD) is characterized by obstructing intestinal strictures because of inflammation (with high levels of hemoglobin), fibrosis (high levels of collagen), or a combination of both. The accurate characterization of the strictures is critical for the management of CD. This study examines the feasibility of characterizing intestinal strictures by Photoacoustic imaging (PAI) without extrapolation from superficial biopsies. Ex vivo normal rat colon tissue, inflammatory and fibrotic intestinal strictures in rat trinitrobenzene sulfonic acid (TNBS) model were first differentiated by a PA-US parallel imaging system. Surgically removed human intestinal stricture specimens were afterwards imaged by a multiwavelength acoustic resolution PA microscope (ARPAM). The experiment results suggest that PAI is a potential tool for the diagnosis of the diseased conditions in intestinal strictures. (C) 2016 Optical Society of America C1 [Lei, Hao; Ni, Jun] Univ Michigan, Dept Mech Engn, Ann Arbor, MI 48109 USA. [Johnson, Laura A.; Rice, Michael D.; Higgins, Peter D. R.] Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA. [Liu, Shengchun] Heilongjiang Univ, Coll Phys Sci & Technol, Harbin 150080, Peoples R China. [Liu, Shengchun; Wang, Xueding] Univ Michigan, Sch Med, Dept Biomed Engn, Ann Arbor, MI 48109 USA. [Moons, David S.] Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA. [Ma, Teng; Zhou, Qifa] Univ Southern Calif, Dept Biomed Engn, NIH, Ultrason Transducer Resource Ctr, Los Angeles, CA 90089 USA. [Wang, Xueding; Xu, Guan] Univ Michigan, Sch Med, Dept Radiol, Ann Arbor, MI 48109 USA. RP Xu, G (reprint author), Univ Michigan, Sch Med, Dept Radiol, Ann Arbor, MI 48109 USA. EM guanx@med.umich.edu FU American Gastroenterological Association Boston Scientific Career Development Technology and Innovation Award; National Institute of Health [R01AR060350, R01CA186769] FX We thank Jackline Barikdar and Deborah Postiff in Department of Pathology in University of Michigan for their help on collecting human tissue samples. This research was supported by the American Gastroenterological Association Boston Scientific Career Development Technology and Innovation Award. This research was also supported in part by National Institute of Health under grant numbers R01AR060350 and R01CA186769. NR 36 TC 0 Z9 0 U1 7 U2 7 PU OPTICAL SOC AMER PI WASHINGTON PA 2010 MASSACHUSETTS AVE NW, WASHINGTON, DC 20036 USA SN 2156-7085 J9 BIOMED OPT EXPRESS JI Biomed. Opt. Express PD JUL 1 PY 2016 VL 7 IS 7 BP 2837 EP 2848 DI 10.1364/BOE.7.002837 PG 12 WC Biochemical Research Methods; Optics; Radiology, Nuclear Medicine & Medical Imaging SC Biochemistry & Molecular Biology; Optics; Radiology, Nuclear Medicine & Medical Imaging GA DR2UC UT WOS:000379758400032 PM 27446710 ER PT J AU Kara, E Tucci, A Manzoni, C Lynch, DS Elpidorou, M Bettencourt, C Chelban, V Manole, A Hamed, SA Haridy, NA Federoff, M Preza, E Hughes, D Pittman, A Jaunmuktane, Z Brandner, S Xiromerisiou, G Wiethoff, S Schottlaender, L Proukakis, C Morris, H Warner, T Bhatia, KP Korlipara, LVP Singleton, AB Hardy, J Wood, NW Lewis, PA Houlden, H AF Kara, Eleanna Tucci, Arianna Manzoni, Claudia Lynch, David S. Elpidorou, Marilena Bettencourt, Conceicao Chelban, Viorica Manole, Andreea Hamed, Sherifa A. Haridy, Nourelhoda A. Federoff, Monica Preza, Elisavet Hughes, Deborah Pittman, Alan Jaunmuktane, Zane Brandner, Sebastian Xiromerisiou, Georgia Wiethoff, Sarah Schottlaender, Lucia Proukakis, Christos Morris, Huw Warner, Tom Bhatia, Kailash P. Korlipara, L. V. Prasad Singleton, Andrew B. Hardy, John Wood, Nicholas W. Lewis, Patrick A. Houlden, Henry TI Genetic and phenotypic characterization of complex hereditary spastic paraplegia SO BRAIN LA English DT Article DE hereditary spastic paraplegia; SPG11; gene; mutation; Parkinson's disease ID THIN CORPUS-CALLOSUM; LEVODOPA-RESPONSIVE PARKINSONISM; NEURONAL CEROID-LIPOFUSCINOSIS; SPATACSIN MUTATIONS; SPG11 MUTATIONS; AUTOSOMAL-DOMINANT; CLINICAL-FEATURES; LYSOSOMAL PROTEIN; MASA SYNDROME; DISEASE AB High-throughput next-generation sequencing can identify disease-causing mutations in extremely heterogeneous disorders. Kara et al. investigate a series of 97 index cases with complex hereditary spastic paraplegia (HSP). They identify SPG11 defects in 30 families, as well as mutations in other HSP genes and genes associated with disorders including Parkinson's disease.High-throughput next-generation sequencing can identify disease-causing mutations in extremely heterogeneous disorders. Kara et al. investigate a series of 97 index cases with complex hereditary spastic paraplegia (HSP). They identify SPG11 defects in 30 families, as well as mutations in other HSP genes and genes associated with disorders including Parkinson's disease.The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15, SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined. The overlap with other neurodegenerative disorders has been implied in a small number of reports, but not in larger disease series. This deficiency has been largely due to the lack of suitable high throughput techniques to investigate the genetic basis of disease, but the recent availability of next generation sequencing can facilitate the identification of disease-causing mutations even in extremely heterogeneous disorders. We investigated a series of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology centre in London for diagnosis or management. The mean age of onset was 16 years (range 3 to 39). The SPG11 gene was first analysed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of probands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinical features and other neurological manifestations, linked with magnetic resonance imaging defects. Given the high frequency of SPG11 mutations, we studied the autophagic response to starvation in eight affected SPG11 cases and control fibroblast cell lines, but in our restricted study we did not observe correlations between disease status and autophagic or lysosomal markers. In the remaining cases, next generation sequencing was carried out revealing variants in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97), four in FA2H (also known as SPG35) (4/97) and two in ZFYVE26/SPG15. Variants were identified in genes usually associated with pure spastic paraplegia and also in the Parkinson's disease-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the hereditary motor and sensory neuropathy DNMT1 gene, highlighting the genetic heterogeneity of spastic paraplegia. No plausible genetic cause was identified in 51% of probands, likely indicating the existence of as yet unidentified genes. C1 [Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S.; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Haridy, Nourelhoda A.; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Xiromerisiou, Georgia; Wiethoff, Sarah; Schottlaender, Lucia; Morris, Huw; Warner, Tom; Hardy, John; Wood, Nicholas W.; Lewis, Patrick A.; Houlden, Henry] UCL, Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England. [Kara, Eleanna; Houlden, Henry] Harvard Med Sch, Dept Neurol, Alzheimers Dis Res Ctr, 114 16th St, Charlestown, MA 02129 USA. [Kara, Eleanna; Houlden, Henry] Massachusetts Gen Hosp, 114 16th St, Charlestown, MA 02129 USA. [Tucci, Arianna] Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy. [Manzoni, Claudia; Lewis, Patrick A.] Univ Reading, Sch Pharm, Reading RG6 6AP, Berks, England. [Hamed, Sherifa A.; Haridy, Nourelhoda A.] Assiut Univ Hosp, Fac Med, Dept Neurol & Psychiat, Assiut, Egypt. [Federoff, Monica; Singleton, Andrew B.] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA. [Jaunmuktane, Zane; Brandner, Sebastian] UCL, Inst Neurol, Natl Hosp Neurol & Neurosurg, Div Neuropathol, Queen Sq, London WC1N 3BG, England. [Jaunmuktane, Zane; Brandner, Sebastian] UCL, Inst Neurol, Natl Hosp Neurol & Neurosurg, Dept Neurodegenerat Dis, Queen Sq, London WC1N 3BG, England. [Xiromerisiou, Georgia] Papageorgiou Hosp, Dept Neurol, Thessaloniki, Greece. [Proukakis, Christos; Morris, Huw] UCL, Inst Neurol, Dept Clin Neurosci, Royal Free Campus, London, England. [Warner, Tom] UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, Queen Sq, London WC1N 3BG, England. [Warner, Tom] UCL, Inst Neurol, Brain Bank Neurol Disorders, Queen Sq, London WC1N 3BG, England. [Bhatia, Kailash P.; Korlipara, L. V. Prasad] UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, Queen Sq, London WC1N 3BG, England. [Wood, Nicholas W.] Natl Hosp Neurol & Neurosurg, Neurogenet Lab, Queen Sq, London WC1N 3BG, England. RP Houlden, H (reprint author), UCL, Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England. EM h.houlden@ucl.ac.uk RI Singleton, Andrew/C-3010-2009; Hardy, John/C-2451-2009; Pittman, Alan/D-6231-2012; Morris, Huw/B-8527-2008; Warner, Thomas/A-1454-2013; Wood, Nicholas/C-2505-2009; Houlden, Henry/C-1532-2008; OI Morris, Huw/0000-0002-5473-3774; Warner, Thomas/0000-0001-6195-6995; Wood, Nicholas/0000-0002-9500-3348; Houlden, Henry/0000-0002-2866-7777; Chelban, Viorica/0000-0002-5817-6290; Lewis, Patrick/0000-0003-4537-0489 FU Medical Research Council (MRC UK); Rosetrees Trust; Wellcome Trust [104033]; Brain Research Trust (BRT); Muscular Dystrophy Association (MDA); Muscular Dystrophy UK; UK HSP Society; EU [2012-305121]; HSP society UK; MRC Centre for Neuromuscular Diseases [G0601943]; EMBO [ATLF-815-2014]; National Brain Appeal Small Acorns Fund; Parkinson's UK fellowship [F1002]; MRC [MR/L010933/1]; National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC) FX This study was supported by the Medical Research Council (MRC UK), The Rosetrees Trust, The Wellcome Trust [equipment and the Synaptopathies strategic award (104033)] and The Brain Research Trust (BRT) The Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The UK HSP Society and the EU FP7/2007-2013 under grant agreement number 2012-305121 (NEUROMICS). We are also supported by the HSP society UK, The MRC Centre for Neuromuscular Diseases (G0601943), EMBO Long term fellowship ATLF-815-2014 (EK), The National Brain Appeal Small Acorns Fund, Parkinson's UK fellowship F1002 (PAL), MRC grant MR/L010933/1 (PAL) and we are also supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). NR 77 TC 4 Z9 5 U1 5 U2 10 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0006-8950 EI 1460-2156 J9 BRAIN JI Brain PD JUL PY 2016 VL 139 BP 1904 EP 1918 DI 10.1093/brain/aww111 PN 7 PG 15 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA DR2VW UT WOS:000379763000014 PM 27217339 ER PT J AU Kaplan, CM Saha, D Molina, JL Hockeimer, WD Postell, EM Apud, JA Weinberger, DR Tan, HY AF Kaplan, Claire M. Saha, Debjani Molina, Juan L. Hockeimer, William D. Postell, Elizabeth M. Apud, Jose A. Weinberger, Daniel R. Tan, Hao Yang TI Estimating changing contexts in schizophrenia SO BRAIN LA English DT Article DE schizophrenia; context; delusions; effective connectivity; anterior prefrontal cortex ID CATECHOL-O-METHYLTRANSFERASE; WORKING-MEMORY; PREFRONTAL CORTEX; MIDBRAIN DOPAMINE; BRAIN; PSYCHOSIS; MODEL; MODULATION; PREDICTION; DELUSIONS AB Real world information is often abstract, dynamic and imprecise. Deciding if changes represent random fluctuations, or alterations in underlying contexts involve challenging probability estimations. Dysfunction may contribute to erroneous beliefs, such as delusions. Here we examined brain function during inferences about context change from noisy information. We examined cortical-subcortical circuitry engaging anterior and dorsolateral prefrontal cortex, and midbrain. We hypothesized that schizophrenia-related deficits in prefrontal function might overestimate context change probabilities, and that this more chaotic worldview may subsequently gain familiarity and be over-reinforced, with implications for delusions. We then examined these opposing information processing biases against less expected versus familiar information patterns in relation to genetic risk for schizophrenia in unaffected siblings. In one experiment, 17 patients with schizophrenia and 24 normal control subjects were presented in 3 T magnetic resonance imaging with numerical information varying noisily about a context integer, which occasionally shifted up or down. Subjects were to indicate when the inferred numerical context had changed. We fitted Bayesian models to estimate probabilities associated with change inferences. Dynamic causal models examined cortical-subcortical circuitry interactions at context change inference, and at subsequent reduced uncertainty. In a second experiment, genetic risk for schizophrenia associated with similar cortical-subcortical findings were explored in an independent sample of 36 normal control subjects and 35 unaffected siblings during processing of intuitive number sequences along the number line, or during the inverse, less familiar, sequence. In the first experiment, reduced Bayesian models fitting subject behaviour suggest that patients with schizophrenia overestimated context change probabilities. Here, patients engaged anterior prefrontal cortex relatively less than healthy controls, in part driven by reduced effective connectivity from dorsolateral prefrontal cortex to anterior prefrontal cortex. In processing subsequent information indicating reduced uncertainty of their predictions, patients engaged relatively increased mid-brain activation, driven in part by increased dorsolateral prefrontal cortex to midbrain connectivity. These dissociable reduced and exaggerated prefrontal and subcortical circuit functions were accentuated in patients with delusions. In the second experiment, analogous dissociable reduced anterior prefrontal cortex and exaggerated midbrain engagement occurred in unaffected siblings when processing less expected versus more familiar number sequences. In conclusion, patients overestimated ambiguous context change probabilities with relatively reduced anterior frontal engagement. Subsequent reduced uncertainty about contextual state appeared over-reinforced, potentially contributing to confirmation bias and a cascade of aberrant belief processing about a more chaotic world relevant to delusions. These opposing cortical-subcortical effects relate in part to genetic risk for schizophrenia, with analogous imbalances in neural processing of less expected versus familiar information patterns. C1 [Kaplan, Claire M.; Saha, Debjani; Hockeimer, William D.; Postell, Elizabeth M.; Weinberger, Daniel R.; Tan, Hao Yang] Lieber Inst Brain Dev, 855 North Wolfe St, Baltimore, MD 21205 USA. [Kaplan, Claire M.; Molina, Juan L.; Apud, Jose A.; Weinberger, Daniel R.; Tan, Hao Yang] NIMH, Clin Brain Disorders Branch, Bethesda, MD 20892 USA. [Weinberger, Daniel R.; Tan, Hao Yang] Johns Hopkins Univ, Sch Med, Psychiat & Behav Sci, Baltimore, MD USA. [Weinberger, Daniel R.] Johns Hopkins Univ, Sch Med, Inst Med Genet, Neurol,Neurosci, Baltimore, MD USA. RP Tan, HY (reprint author), Lieber Inst Brain Dev, 855 North Wolfe St, Baltimore, MD 21205 USA. EM Haoyang.tan@libd.org FU National Institute of Mental Health Intramural Research Program; Seymour Kety Memorial Fellowship Award; Lieber Institute for Brain Development; National Institute of Mental Health [R01MH101053] FX This work was funded by the National Institute of Mental Health Intramural Research Program (D.R.W.), Seymour Kety Memorial Fellowship Award (H.Y.T.), Lieber Institute for Brain Development, and National Institute of Mental Health grant R01MH101053 (H.Y.T.). NR 49 TC 1 Z9 1 U1 3 U2 5 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0006-8950 EI 1460-2156 J9 BRAIN JI Brain PD JUL PY 2016 VL 139 BP 2082 EP 2095 DI 10.1093/brain/aww095 PN 7 PG 14 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA DR2VW UT WOS:000379763000027 PM 27217338 ER PT J AU Arun, BK Gong, Y Liu, D Litton, JK Gutierrez-Barrera, AM Lee, JJ Vornik, L Ibrahim, NK Cornelison, T Hortobagyi, GN Heckman-Stoddard, BM Koenig, KB Alvarez, RR Murray, JL Valero, V Lippman, SM Brown, P Sneige, N AF Arun, Banu K. Gong, Yun Liu, Diane Litton, Jennifer K. Gutierrez-Barrera, Angelica M. Lee, J. Jack Vornik, Lana Ibrahim, Nuhad K. Cornelison, Terri Hortobagyi, Gabriel N. Heckman-Stoddard, Brandy M. Koenig, Kimberly B. Alvarez, Ricardo R. Murray, James L. Valero, Vicente Lippman, Scott M. Brown, Powel Sneige, Nour TI Phase I biomarker modulation study of atorvastatin in women at increased risk for breast cancer SO BREAST CANCER RESEARCH AND TREATMENT LA English DT Article DE Breast cancer risk; Statins; Atorvastatin; Breast cancer biomarkers ID HMG-COA REDUCTASE; POSTMENOPAUSAL WOMEN; PREVENTION TRIALS; CHOLESTEROL; STATINS; CELLS; PROLIFERATION; SIMVASTATIN; ESTROGEN; PATHWAY AB Selective estrogen receptor modulators (SERMs), tamoxifen, and raloxifene that reduce the risk of breast cancer are limited to only estrogen receptor-positive (ER+) breast cancer. In addition, patient acceptance of SERMs is low due to toxicity and intolerability. New agents with improved toxicity profile that reduce risk of ER-negative breast cancer are urgently needed. Observational studies show that statins can reduce breast cancer incidence and recurrence. The objective of this prospective short-term prevention study was to evaluate the effect of a lipophilic statin, atorvastatin, on biomarkers in breast tissue and serum of women at increased risk. Eligible participants included women with previous history of carcinoma in situ, or atypical hyperplasia, or 5 year breast cancer projected Gail risk >1.67 %, or lifetime breast cancer risk >20 % calculated by models including Claus, Tyrer-Cuzick, Boadicea, or BRCAPRO. Patients underwent baseline fine needle aspiration (FNA) of the breast, blood collection for biomarker analysis, and were randomized to either no treatment or atorvastatin at 10, 20, or 40 mg/day dose for 3 months. At 3 months, blood collection and breast FNA were repeated. Biomarkers included C-reactive protein (CRP), lipid profile, atorvastatin, and its metabolites, Ki-67, bcl-2, EGFR, and pEGFR. Baseline genotype for 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoAR) was also measured. Among 60 patients evaluated, a significant reduction in serum CRP, cholesterol and low-density lipoprotein (LDL), and increase in atorvastatin metabolites in serum and breast FNAs was demonstrated. No changes were observed in other tissue biomarkers. This study shows that atorvastatin and its metabolites are detectable in breast samples and may lower serum CRP among women without hyperlipidemia. C1 [Arun, Banu K.; Gong, Yun; Litton, Jennifer K.; Gutierrez-Barrera, Angelica M.; Ibrahim, Nuhad K.; Hortobagyi, Gabriel N.; Koenig, Kimberly B.; Alvarez, Ricardo R.; Murray, James L.; Valero, Vicente] Univ Texas MD Anderson Canc Ctr, Breast Med Oncol & Clin Canc Genet, 1155 Pressler St,CPB 5,Box 1354, Houston, TX 77030 USA. [Liu, Diane; Lee, J. Jack] Univ Texas MD Anderson Canc Ctr, Dept Biostat, Houston, TX 77030 USA. [Vornik, Lana; Lippman, Scott M.; Brown, Powel] Univ Texas MD Anderson Canc Ctr, Clin Canc Prevent, Houston, TX 77030 USA. [Cornelison, Terri; Heckman-Stoddard, Brandy M.] NCI, Canc Prevent Div, Rockville, MD USA. [Sneige, Nour] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA. RP Arun, BK (reprint author), Univ Texas MD Anderson Canc Ctr, Breast Med Oncol & Clin Canc Genet, 1155 Pressler St,CPB 5,Box 1354, Houston, TX 77030 USA. EM barun@mdanderson.org FU NCI-DCP [MDA05-6-01] FX The study was funded by NCI-DCP# MDA05-6-01 contract grant. We thank Dr. Madhumita Ghosh for the critical reading and editing of the manuscript. NR 34 TC 0 Z9 0 U1 5 U2 5 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0167-6806 EI 1573-7217 J9 BREAST CANCER RES TR JI Breast Cancer Res. Treat. PD JUL PY 2016 VL 158 IS 1 BP 67 EP 77 DI 10.1007/s10549-016-3849-1 PG 11 WC Oncology SC Oncology GA DQ8XE UT WOS:000379494200008 PM 27287781 ER PT J AU Oh, H Bodelon, C Palakal, M Chatterjee, N Sherman, ME Linville, L Geller, BM Vacek, PM Weaver, DL Chicoine, RE Papathomas, D Patel, DA Xiang, J Clare, SE Visscher, DW Mies, C Hewitt, SM Brinton, LA Storniolo, AMV He, CY Garcia-Closas, M Chanock, SJ Gierach, GL Figueroa, JD AF Oh, Hannah Bodelon, Clara Palakal, Maya Chatterjee, Nilanjan Sherman, Mark E. Linville, Laura Geller, Berta M. Vacek, Pamela M. Weaver, Donald L. Chicoine, Rachael E. Papathomas, Daphne Patel, Deesha A. Xiang, Jackie Clare, Susan E. Visscher, Daniel W. Mies, Carolyn Hewitt, Stephen M. Brinton, Louise A. Storniolo, Anna Maria V. He, Chunyan Garcia-Closas, Montserrat Chanock, Stephen J. Gierach, Gretchen L. Figueroa, Jonine D. TI Ages at menarche- and menopause-related genetic variants in relation to terminal duct lobular unit involution in normal breast tissue SO BREAST CANCER RESEARCH AND TREATMENT LA English DT Article DE Menarche; Menopause; Lobular involution; TDLU; SNP; Breast histology ID CANCER RISK; MAMMOGRAPHIC DENSITY; FAMILY-HISTORY; DISEASE; WOMEN; LOCI; METAANALYSIS; PROSTATE; LUNG; DNA AB Reduced levels of terminal duct lobular unit (TDLU) involution, as reflected by higher numbers of TDLUs and acini per TDLU, have been associated with higher breast cancer risk. Younger age at menarche and older age at menopause have been previously related to lower levels of TDLU involution. To determine a possible genetic link, we examined whether single-nucleotide polymorphisms (SNPs) previously established in genome-wide association studies (GWAS) for ages at menarche and menopause are associated with TDLU involution. We conducted a pooled analysis of 862 women from two studies. H&E tissue sections were assessed for numbers of TDLUs and acini/TDLU. Poisson regression models were used to estimate associations of 36 menarche- and 21 menopause-SNPs with TDLU counts, acini counts/TDLU, and the product of these two measures, adjusting for age and study site. Fourteen percent of evaluated SNPs (eight SNPs) were associated with TDLU counts at p < 0.05, suggesting an enrichment of associations with TDLU counts. However, only menopause-SNPs had > 50 % that were either significantly or nonsignificantly associated with TDLU measures in the directions consistent with their relationships shown in GWAS. Among ten SNPs that were statistically significantly associated with at least one TDLU involution measure (p < 0.05), seven SNPs (rs466639: RXRG; rs2243803: SLC14A2; rs2292573: GAB2; rs6438424: 3q13.32; rs7606918: METAP1D; rs11668344: TMEM150B; rs1635501: EXO1) were associated in the consistent directions. Our data suggest that the loci associated with ages at menarche and menopause may influence TDLU involution, suggesting some shared genetic mechanisms. However, larger studies are needed to confirm the results. C1 [Oh, Hannah; Bodelon, Clara; Palakal, Maya; Chatterjee, Nilanjan; Sherman, Mark E.; Linville, Laura; Papathomas, Daphne; Patel, Deesha A.; Xiang, Jackie; Brinton, Louise A.; Garcia-Closas, Montserrat; Chanock, Stephen J.; Gierach, Gretchen L.; Figueroa, Jonine D.] NCI, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. [Sherman, Mark E.] NCI, Canc Prevent Div, Bethesda, MD 20892 USA. [Geller, Berta M.; Vacek, Pamela M.; Weaver, Donald L.; Chicoine, Rachael E.] Univ Vermont, Burlington, VT USA. [Clare, Susan E.] Northwestern Univ, Feinberg Sch Med, Dept Surg, Chicago, IL 60611 USA. [Visscher, Daniel W.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA. [Mies, Carolyn] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA. [Mies, Carolyn] Genom Hlth Inc, Redwood City, CA USA. [Hewitt, Stephen M.] NCI, Pathol Lab, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. [Storniolo, Anna Maria V.] Indiana Univ, Simon Canc Ctr, Susan G Komen Tissue Bank, Indianapolis, IN 46204 USA. [He, Chunyan] Indiana Univ, Richard M Fairbanks Sch Publ Hlth, Dept Epidemiol, Indianapolis, IN 46204 USA. [He, Chunyan] Indiana Univ, Simon Canc Ctr, Indianapolis, IN 46204 USA. [Figueroa, Jonine D.] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Inst Genom & Mol Med, Edinburgh Canc Res Ctr, Edinburgh, Midlothian, Scotland. RP Oh, H (reprint author), NCI, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. EM hannah.oh@nih.gov RI Gierach, Gretchen/E-1817-2016; OI Gierach, Gretchen/0000-0002-0165-5522; Oh, Hannah/0000-0002-8368-3032 FU Division of Cancer Epidemiology and Genetics of the National Cancer Institute; Breast Cancer Research Stamp Funds from the National Cancer Institute; National Cancer Institute [U01CA70013] FX This study was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute. Breast Cancer Research Stamp Funds (M.E. Sherman, L.A. Brinton) and cooperative agreement U01CA70013 (B.M. Geller, P.M. Vacek, D.L. Weaver, R.E. Chicoine) from the National Cancer Institute funded some of the data collection for this study. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. NR 30 TC 1 Z9 1 U1 1 U2 1 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0167-6806 EI 1573-7217 J9 BREAST CANCER RES TR JI Breast Cancer Res. Treat. PD JUL PY 2016 VL 158 IS 2 BP 341 EP 350 DI 10.1007/s10549-016-3859-z PG 10 WC Oncology SC Oncology GA DQ8XA UT WOS:000379493800013 PM 27342457 ER PT J AU Banerjee, B Shaheen, NJ Martinez, JA Hsu, CH Trowers, E Gibson, BA Della'Zanna, G Richmond, E Chow, HHS AF Banerjee, Bhaskar Shaheen, Nicholas J. Martinez, Jessica A. Hsu, Chiu-Hsieh Trowers, Eugene Gibson, Blake A. Della'Zanna, Gary Richmond, Ellen Chow, H-H. Sherry TI Clinical Study of Ursodeoxycholic Acid in Barrett's Esophagus Patients SO CANCER PREVENTION RESEARCH LA English DT Article ID GASTROESOPHAGEAL-REFLUX DISEASE; PROTON PUMP INHIBITORS; BILE-ACIDS; DNA-DAMAGE; NEOPLASTIC PROGRESSION; OXIDATIVE STRESS; ADENOCARCINOMA; P53; OVEREXPRESSION; RESISTANCE AB Prior research strongly implicates gastric acid and bile acids, two major components of the gastroesophageal refluxate, in the development of Barrett's esophagus and its pathogenesis. Ursodeoxycholic acid (UDCA), a hydrophilic bile acid, has been shown to protect esophageal cells against oxidative stress induced by cytotoxic bile acids. We conducted a pilot clinical study to evaluate the clinical activity of UDCA in patients with Barrett's esophagus. Twenty-nine patients with Barrett's esophagus received UDCA treatment at a daily dose of 13 to 15mg/kg/day for 6 months. The clinical activity of UDCA was assessed by evaluating changes in gastric bile acid composition and markers of oxidative DNA damage (8-hydroxy-deoxyguanosine), cell proliferation (Ki67), and apoptosis (cleaved caspase-3) in Barrett's esophagus epithelium. The bile acid concentrations in gastric fluid were measured by liquid chromatography/mass spectrometry. At baseline, UDCA (sum of unchanged and glycine/taurine conjugates) accounted for 18.2% of total gastric bile acids. After UDCA intervention, UDCA increased significantly to account for 93.4% of total gastric bile acids (P < 0.0001). The expression of markers of oxidative DNA damage, cell proliferation, and apoptosis was assessed in the Barrett's esophagus biopsies by IHC. The selected tissue biomarkers were unchanged after 6 months of UDCA intervention. We conclude that high-dose UDCA supplementation for 6 months resulted in favorable changes in gastric bile acid composition but did not modulate selected markers of oxidative DNA damage, cell proliferation, and apoptosis in the Barrett's esophagus epithelium. Cancer Prev Res; 9(7); 528-33. (C) 2016 AACR. C1 [Banerjee, Bhaskar; Trowers, Eugene; Gibson, Blake A.] Univ Arizona, Coll Med, Tucson, AZ USA. [Shaheen, Nicholas J.] Univ N Carolina, Sch Med, Div Gastroenterol & Hepatol, Chapel Hill, NC USA. [Martinez, Jessica A.; Hsu, Chiu-Hsieh; Chow, H-H. Sherry] Univ Arizona, Ctr Canc, 1515 N Campbell Ave, Tucson, AZ 85724 USA. [Martinez, Jessica A.] Univ Arizona, Dept Nutr Sci, Tucson, AZ USA. [Della'Zanna, Gary; Richmond, Ellen] NCI, Canc Prevent Div, Rockville, MD USA. RP Chow, HHS (reprint author), Univ Arizona, Ctr Canc, 1515 N Campbell Ave, Tucson, AZ 85724 USA. EM schow@azcc.arizona.edu FU National Cancer Institute [N01CN35158]; Arizona Cancer Center [CA023074]; Susan G. Komen Career Catalyst Award [CCR14299136] FX This work was supported by a contract (N01CN35158 to H-H.S. Chow) from the National Cancer Institute, the Arizona Cancer Center Support Grant (CA023074), and a Susan G. Komen Career Catalyst Award (CCR14299136). Clinical Trial Registration: clinicaltrials.gov identifier: NCT01097304. NR 32 TC 0 Z9 0 U1 2 U2 2 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1940-6207 EI 1940-6215 J9 CANCER PREV RES JI Cancer Prev. Res. PD JUL PY 2016 VL 9 IS 7 BP 528 EP 533 DI 10.1158/1940-6207.CAPR-15-0276 PG 6 WC Oncology SC Oncology GA DQ8ZM UT WOS:000379500200005 PM 26908564 ER PT J AU Couch, G Redman, JE Wernisch, L Newton, R Malhotra, S Dawsey, SM Lao-Sirieix, P Fitzgerald, RC AF Couch, George Redman, James E. Wernisch, Lorenz Newton, Richard Malhotra, Shalini Dawsey, Sanford M. Lao-Sirieix, Pierre Fitzgerald, Rebecca C. TI The Discovery and Validation of Biomarkers for the Diagnosis of Esophageal Squamous Dysplasia and Squamous Cell Carcinoma SO CANCER PREVENTION RESEARCH LA English DT Article ID RADIOFREQUENCY ABLATION; ASYMPTOMATIC ADULTS; CYTOLOGIC DETECTION; GENE POLYMORPHISMS; BARRETTS-ESOPHAGUS; CANCER STATISTICS; TNFAIP3 REGION; CHINA; METAANALYSIS; NEOPLASIA AB The 5-year survival rate of esophageal cancer is less than 10% in developing countries, where more than 90% of these cancers are esophageal squamous cell carcinomas (ESCC). Endoscopic screening is undertaken in high incidence areas. Biomarker analysis could reduce the subjectivity associated with histologic assessment of dysplasia and thus improve diagnostic accuracy. The aims of this study were therefore to identify biomarkers for esophageal squamous dysplasia and carcinoma. A publicly available dataset was used to identify genes with differential expression in ESCC compared with normal esophagus. Each gene was ranked by a support vector machine separation score. Expression profiles were examined, before validation by qPCR and IHC. We found that 800 genes were overexpressed in ESCC compared with normal esophagus (P < 10(-5)). Of the top 50 genes, 33 were expressed in ESCC epithelium and not in normal esophagus epithelium or stroma using the Protein Atlas website. These were taken to qPCR validation, and 20 genes were significantly overexpressed in ESCC compared with normal esophagus (P < 0.05). TNFAIP3 and CHN1 showed differential expression with IHC. TNFAIP3 expression increased gradually through normal esophagus, mild, moderate and severe dysplasia, and SCC (P < 0.0001). CHN1 staining was rarely present in the top third of normal esophagus epithelium and extended progressively towards the surface in mild, moderate, and severe dysplasia, and SCC (P < 0.0001). Two novel promising biomarkers for ESCC were identified, TNFAIP3 and CHN1. CHN1 and TNFAIP3 may improve diagnostic accuracy of screening methods for ESCC. Cancer Prev Res; 9(7); 558-66. (C) 2016 AACR. C1 [Couch, George; Redman, James E.; Lao-Sirieix, Pierre; Fitzgerald, Rebecca C.] Univ Cambridge, Hutchison MRC Res Ctr, MRC Canc Unit, Cambridge CB2 0XZ, England. [Wernisch, Lorenz; Newton, Richard] MRC Biostat Unit, Robinson Way, Cambridge, England. [Malhotra, Shalini] Cambridge Univ Hosp NHS Fdn Trust, Dept Histopathol, Cambridge, England. [Dawsey, Sanford M.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. RP Fitzgerald, RC (reprint author), Univ Cambridge, Hutchison MRC Res Ctr, MRC Canc Unit, Cambridge CB2 0XZ, England. EM RCF29@MRC-CU.cam.ac.uk FU NIHR Cambridge Biomedical Research Centre [5-4690]; NIHR [NIHR-RP-R2-12-011]; Evelyn Trust [11/23]; NCI [HHSNZ 61201100483P]; Medical Research Council [4050375780]; National Institute of Health Research (NIHR) Professorship FX The Addenbrooke's Hospital Human Research Tissue Bank, supported by the NIHR Cambridge Biomedical Research Centre (5-4690), supported this study. R.C. Fitzgerald received funding from the NIHR (NIHR-RP-R2-12-011) and the Evelyn Trust (11/23). This study was also supported in part by the intramural research program of the NCI (HHSNZ 61201100483P). R.C. Fitzgerald has programmatic funding from the Medical Research Council (4050375780) and a National Institute of Health Research (NIHR) Professorship. The Fitzgerald Group also has infrastructure support from the Biomedical Research Centre (812039) and the Experimental Medicine Centre (C507/A15580). NR 48 TC 1 Z9 1 U1 0 U2 0 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1940-6207 EI 1940-6215 J9 CANCER PREV RES JI Cancer Prev. Res. PD JUL PY 2016 VL 9 IS 7 BP 558 EP 566 DI 10.1158/1940-6207.CAPR-15-0379 PG 9 WC Oncology SC Oncology GA DQ8ZM UT WOS:000379500200008 PM 27072986 ER PT J AU Saud, SM Li, WD Gray, Z Matter, MS Colburn, NH Young, MR Kim, YS AF Saud, Shakir M. Li, Weidong Gray, Zane Matter, Matthias S. Colburn, Nancy H. Young, Matthew R. Kim, Young S. TI Diallyl Disulfide (DADS), a Constituent of Garlic, Inactivates NF-kappa B and Prevents Colitis-Induced Colorectal Cancer by Inhibiting GSK-3 beta SO CANCER PREVENTION RESEARCH LA English DT Article ID GLYCOGEN-SYNTHASE KINASE-3-BETA; INFLAMMATORY-BOWEL-DISEASE; INDUCED COLON-CANCER; CELL-LINES; ULCERATIVE-COLITIS; NUDE-MICE; IKK-ALPHA; GROWTH; ACTIVATION; MODEL AB There is a strong belief that garlic has medicinal properties and may even reduce the risk of developing certain cancers including those of the gastrointestinal tract. The chemopreventive effects of garlic may be attributed to the anti-inflammatory properties of the sulfur-containing constituents of garlic, which includes diallyl disulfide (DADS). Here, we demonstrate that DADS prevented colorectal tumorigenesis in a mouse model of colitis-induced colorectal cancer. Supplementation with 85 ppm of DADS (60 mg daily human equivalent dose) in the diet of FVB/N mice treated with chemical carcinogen azoxymethane (AOM) and colonic irritant dextran sodium sulfate (DSS) resulted in the reduction in tumor incidence, tumor number, and tumor burden by 21.54%, 47.3%, and 66.4%, respectively. Further analysis revealed that mice fed the DADS-supplemented diet resolved the initial DSS-induced inflammation faster than those on the control diet, preventing prolonged inflammation and cellular transformation. Subsequent mechanistic studies in vitro suggest that DADS chemopreventive effects are mediated through NF-kappa B signaling. When SW480 colorectal cancer cells were treated with DADS, NF-kappa B nuclear localization and activity were diminished. Interestingly, NF-kappa B suppression was found to be dependent on DADS inhibition of GSK3 beta, a positive regulator of NF-kappa B. Inhibition of GSK-3 beta and loss of nuclear NF-kappa B activity were also observed in vivo in AOM/DSS-treated mice fed a diet supplemented with 85 ppm DADS. Our results indicate that DADS can prevent tumorigenesis by suppressing inflammation, a process largely involving GSK-3 beta inhibition and consequential reduction in NF-kappa B nuclear localization. Cancer Prev Res; 9(7); 607-15. (C) 2016 AACR. C1 [Saud, Shakir M.; Kim, Young S.] NCI, Nutr Sci Res Grp, Canc Prevent Div, Rockville, MD USA. [Saud, Shakir M.; Li, Weidong; Colburn, Nancy H.; Young, Matthew R.] NCI, Lab Canc Prevent, Ctr Canc Res, Frederick, MD 21701 USA. [Li, Weidong] Guanganmen Hosp, Dept Infect Dis, Beijing, Peoples R China. [Gray, Zane] NCI, Lab Expt Immunol, Ctr Canc Res, Frederick, MD 21701 USA. [Matter, Matthias S.] Univ Basel Hosp, Inst Pathol, Basel, Switzerland. [Young, Matthew R.] Natl Canc Inst, Canc Biomarkers Res Grp, Canc Prevent Div, Rockville, MD USA. RP Kim, YS (reprint author), NCI, 9609 Med Ctr Dr,Room 5E576, Rockville, MD 20850 USA. EM yk47s@nih.gov FU National Cancer Institute; NIH [ZIA BC 011159]; China Postdoctoral Science Foundation [20110490559, 2012T50199] FX All coauthors were supported by the National Cancer Institute, and by the NIH intramural program, ZIA BC 011159. In addition, the China Postdoctoral Science Foundation also supported W. Li (grant number: 20110490559; 2012T50199). NR 50 TC 3 Z9 3 U1 2 U2 14 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1940-6207 EI 1940-6215 J9 CANCER PREV RES JI Cancer Prev. Res. PD JUL PY 2016 VL 9 IS 7 BP 607 EP 615 DI 10.1158/1940-6207.CAPR-16-0044 PG 9 WC Oncology SC Oncology GA DQ8ZM UT WOS:000379500200013 PM 27138790 ER PT J AU Lubet, RA Townsend, R Clapper, ML Juliana, MM Steele, VE McCormick, DL Grubbs, CJ AF Lubet, Ronald A. Townsend, Reid Clapper, Margie L. Juliana, M. Margaret Steele, Vernon E. McCormick, David L. Grubbs, Clinton J. TI 5MeCDDO Blocks Metabolic Activation but not Progression of Breast, Intestine, and Tongue Cancers. Is Antioxidant Response Element a Prevention Target? SO CANCER PREVENTION RESEARCH LA English DT Article ID CDDO-METHYL ESTER; OLEANANE TRITERPENOIDS; CARCINOGENESIS; NRF2; MODEL; CHEMOPREVENTION; TUMORIGENESIS; EXPRESSION; PROTECTION; INDUCTION AB The preventive efficacy of the triterpenoid 5MeCDDO was tested in two models of mammary cancer, the Min model of intestinal cancer, and a chemically induced model of head and neck cancer. In one model of mammary cancer, female Sprague-Dawley rats were administered MNU at 50 days of age, and 5MeCDDO (27 ppm) was administered in the diet beginning 5 days later for the duration of the study; 5MeCDDO was ineffective. In contrast, in a model examining initiation of mammary cancers by the procarcinogen dimethyl-benzanthracene, 5, 6-benzoflavone (500 ppm, an Ah receptor agonist) or 5MeCDDO (27 or 2.7 ppm) decreased tumor multiplicity by 90%, 80%, and 50%, respectively. This anti-initiating effect which is presumably mediated by altered metabolic activation parallels our observation that 5MeCDDO induced proteins of various antioxidant response element (ARE)-related phase II drug-metabolizing enzymes [e.g., GST Pi, AKR 7A3 (aflatoxicol), epoxide hydrolase, and quinone reductase] in the liver. 5MeCDDO tested in the 4-nitroquinoline-l-oxide (4-NQO) head and neck cancer model failed to decrease tumor incidence or invasiveness. In the Min mouse model of intestinal cancer, a high dose of 5MeCDDO (80 ppm) was weakly effective in reducing adenoma multiplicity [similar to 30% (P < 0.05)]; however, a lower dose was totally ineffective. These findings question whether measuring increased levels of certain ARE-related genes (e.g., quinone reductase, GST Pi), indicating decreased carcinogen activation are sufficient to imply general chemopreventive efficacy of a given agent or mixture. Cancer Prev Res; 9(7); 616-23. (C) 2016 AACR. C1 [Lubet, Ronald A.; Steele, Vernon E.] NCI, Div Canc Prevent, Chemoprevent Agent Dev Res Grp, Bethesda, MD 20892 USA. [Townsend, Reid] Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO USA. [Townsend, Reid] Washington Univ, Sch Med, Dept Med, St Louis, MO USA. [Clapper, Margie L.] Fox Chase Canc Ctr, Canc Prevent & Control Program, 7701 Burholme Ave, Philadelphia, PA 19111 USA. [Juliana, M. Margaret; Grubbs, Clinton J.] Univ Alabama Birmingham, Chemoprevent Ctr, Birmingham, AL USA. [McCormick, David L.] IIT Res Inst, Life Sci Grp, Chicago, IL USA. RP Grubbs, CJ (reprint author), Univ Alabama Birmingham, 1720 2nd Ave S,VH-G78D, Birmingham, AL 35294 USA. EM clintongrubbs@uabmc.edu FU NCI [HHSN26120043300 C] FX This work was supported by NCI# HHSN26120043300 C (to C.J. Grubbs). NR 30 TC 0 Z9 0 U1 2 U2 2 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 1940-6207 EI 1940-6215 J9 CANCER PREV RES JI Cancer Prev. Res. PD JUL PY 2016 VL 9 IS 7 BP 616 EP 623 DI 10.1158/1940-6207.CAPR-15-0294 PG 8 WC Oncology SC Oncology GA DQ8ZM UT WOS:000379500200014 PM 27150634 ER PT J AU Arenas-Hernandez, M Romero, R St Louis, D Hassan, SS Kaye, EB Gomez-Lopez, N AF Arenas-Hernandez, Marcia Romero, Roberto St Louis, Derek Hassan, Sonia S. Kaye, Emily B. Gomez-Lopez, Nardhy TI An imbalance between innate and adaptive immune cells at the maternal-fetal interface occurs prior to endotoxin-induced preterm birth SO CELLULAR & MOLECULAR IMMUNOLOGY LA English DT Article DE antigen-presenting cells; effector T cells; inflammation; labor; lipopolysaccharide; macrophages; microbial product; neutrophils; pregnancy; preterm labor; regulatory T cells ID REGULATORY T-CELLS; IN-VIVO; PERIPHERAL-BLOOD; RHESUS-MONKEYS; CHRONIC CHORIOAMNIONITIS; VIRUS-INFECTION; HUMAN-PREGNANCY; LABOR; TERM; PARTURITION AB Preterm birth (PTB) is the leading cause of neonatal morbidity and mortality worldwide. A transition from an anti-inflammatory state to a pro-inflammatory state in the mother and at the maternal-fetal interface has been implicated in the pathophysiology of microbial-induced preterm labor. However, it is unclear which immune cells mediate this transition. We hypothesized that an imbalance between innate and adaptive immune cells at the maternal-fetal interface will occur prior to microbial-induced preterm labor. Using an established murine model of endotoxin-induced PTB, our results demonstrate that prior to delivery there is a reduction of CD41regulatory T cells (Tregs) in the uterine tissues. This reduction is neither linked to a diminished number of Tregs in the spleen, nor to an impaired production of IL10, CCL17, or CCL22 by the uterine tissues. Endotoxin administration to pregnant mice does not alter effector CD41 T cells at the maternal-fetal interface. However, it causes an imbalance between Tregs (CD41and CD81), effector CD81T cells, and Th17 cells in the spleen. In addition, endotoxin administration to pregnant mice leads to an excessive production of CCL2, CCL3, CCL17, and CCL22 by the uterine tissues as well as abundant neutrophils. This imbalance in the uterine microenvironment is accompanied by scarce APC-like cells such as macrophages and MHC II1neutrophils. Collectively, these results demonstrate that endotoxin administration to pregnant mice causes an imbalance between innate and adaptive immune cells at the maternal-fetal interface. C1 [Arenas-Hernandez, Marcia; St Louis, Derek; Hassan, Sonia S.; Kaye, Emily B.; Gomez-Lopez, Nardhy] Wayne State Univ, Sch Med, Dept Obstet & Gynecol, Detroit, MI 48201 USA. [Arenas-Hernandez, Marcia; Romero, Roberto; St Louis, Derek; Hassan, Sonia S.; Gomez-Lopez, Nardhy] NICHD, Perinatol Res Branch, Program Perinatal Res & Obstet,NIH,DHHS, Div Intramural Res,Eunice Kennedy Shriver Natl In, Bethesda, MD USA. [Romero, Roberto] Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA. [Romero, Roberto] Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI 48824 USA. [Romero, Roberto] Wayne State Univ, Dept Mol Obstet & Genet, Detroit, MI USA. [Gomez-Lopez, Nardhy] Wayne State Univ, Sch Med, Dept Immunol & Microbiol, Detroit, MI 48201 USA. RP Gomez-Lopez, N (reprint author), Wayne State Univ, Sch Med, Dept Obstet & Gynecol, Detroit, MI 48201 USA.; Gomez-Lopez, N (reprint author), NICHD, NIH, DHHS, Detroit, MI 48201 USA. EM nardhy.gomez-lopez@wayne.edu RI Gomez-Lopez, Nardhy/R-7664-2016 OI Gomez-Lopez, Nardhy/0000-0002-3406-5262 FU Wayne State University Perinatal Research Initiative in Maternal, Perinatal and Child Health; Perinatology Research Branch, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, U.S. Department of Health and Human Services (NICHD/NIH/DHHS) FX This research was supported by the Wayne State University Perinatal Research Initiative in Maternal, Perinatal and Child Health, and by the Perinatology Research Branch, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, U.S. Department of Health and Human Services (NICHD/NIH/DHHS). We gratefully acknowledge Marcus Lehr, Dr Zhong Dong, Lorri McLuckie, and Rona Wang for their contributions to the execution of this study, and to Maureen McGerty and Amy E. Furcron (Wayne State University) for their critical readings of the manuscript. NR 76 TC 4 Z9 4 U1 2 U2 4 PU CHIN SOCIETY IMMUNOLOGY PI BEING PA 5 DONGDAN SANTIAO, DONGCHEN DISTRICT, BEING, 100005, PEOPLES R CHINA SN 1672-7681 EI 2042-0226 J9 CELL MOL IMMUNOL JI Cell. Mol. Immunol. PD JUL PY 2016 VL 13 IS 4 BP 462 EP 473 DI 10.1038/cmi.2015.22 PG 12 WC Immunology SC Immunology GA DQ7GJ UT WOS:000379374600007 PM 25849119 ER PT J AU Crompton, JG Narayanan, M Cuddapah, S Roychoudhuri, R Ji, Y Yang, WJ Patel, SJ Sukumar, M Palmer, DC Peng, WQ Wang, E Marincola, FM Klebanoff, CA Zhao, KJ Tsang, JS Gattinoni, L Restifo, NP AF Crompton, Joseph G. Narayanan, Manikandan Cuddapah, Suresh Roychoudhuri, Rahul Ji, Yun Yang, Wenjing Patel, Shashank J. Sukumar, Madhusudhanan Palmer, Douglas C. Peng, Weiqun Wang, Ena Marincola, Francesco M. Klebanoff, Christopher A. Zhao, Keji Tsang, John S. Gattinoni, Luca Restifo, Nicholas P. TI Lineage relationship of CD8(+) T cell subsets is revealed by progressive changes in the epigenetic landscape SO CELLULAR & MOLECULAR IMMUNOLOGY LA English DT Article ID MEMORY STEM-CELLS; TRANSCRIPTION FACTOR; ENVIRONMENTAL CUES; HUMAN GENOME; EFFECTOR; DIFFERENTIATION; BET; INFECTION; LYMPHOCYTES; FOXO1 AB To better elucidate epigenetic mechanisms that correlate with the dynamic gene expression program observed upon T-cell differentiation, we investigated the genomic landscape of histone modifications in naive and memory CD8(+) T cells. Using a ChIP-Seq approach coupled with global gene expression profiling, we generated genome-wide histone H3 lysine 4 (H3K4me3) and H3 lysine 27 (H3K27me3) trimethylation maps in naive, T memory stem cells, central memory cells, and effector memory cells in order to gain insight into how histone architecture is remodeled during T cell differentiation. We show that H3K4me3 histone modifications are associated with activation of genes, while H3K27me3 is negatively correlated with gene expression at canonical loci and enhancers associated with T-cell metabolism, effector function, and memory. Our results also reveal histone modifications and gene expression signatures that distinguish the recently identified T memory stem cells from other CD8(+) T-cell subsets. Taken together, our results suggest that CD8(+) lymphocytes undergo chromatin remodeling in a progressive fashion. These findings have major implications for our understanding of peripheral T-cell ontogeny and the formation of immunological memory. C1 [Crompton, Joseph G.; Roychoudhuri, Rahul; Sukumar, Madhusudhanan; Palmer, Douglas C.; Klebanoff, Christopher A.; Restifo, Nicholas P.] NCI, Surg Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Crompton, Joseph G.] Univ Cambridge, Cambridge Inst Med Res, Cambridge CB2 0XY, England. [Narayanan, Manikandan; Tsang, John S.] NIAID, Syst Genom & Bioinformat Unit, Lab Syst Biol, NIH, Bethesda, MD 20892 USA. [Cuddapah, Suresh] NYU, Sch Med, Dept Environm Med, Tuxedo Pk, NY 10987 USA. [Ji, Yun; Gattinoni, Luca] NCI, Expt Transplantat & Immunol Branch, NIH, Bethesda, MD 20892 USA. [Yang, Wenjing; Peng, Weiqun] George Washington Univ, Dept Phys, Washington, DC 20052 USA. [Wang, Ena; Marincola, Francesco M.] Sidra Med & Res Ctr, Res Branch, Doha, Qatar. [Wang, Ena; Marincola, Francesco M.] NIH, Infect Dis & Immunogenet Sect, Dept Transfus Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Klebanoff, Christopher A.] NCI, Clin Investigator Dev Program, NIH, Bethesda, MD 20892 USA. [Zhao, Keji] NHLBI, Syst Biol Ctr, Bethesda, MD 20892 USA. [Patel, Shashank J.] Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC 20007 USA. [Patel, Shashank J.] Georgetown Univ, Lombardi Comprehens Canc Ctr, Bethesda, MD 20892 USA. RP Restifo, NP (reprint author), NCI, Surg Branch, NIH, Bldg 10, Bethesda, MD 20892 USA.; Gattinoni, L (reprint author), NCI, Expt Transplantat & Immunol Branch, NIH, Bethesda, MD 20892 USA. EM gattinol@mail.nih.gov; restifo@nih.gov RI Gattinoni, Luca/A-2281-2008; Roychoudhuri, Rahul/A-7442-2010; Ji, Yun/B-7245-2009 OI Gattinoni, Luca/0000-0003-2239-3282; Roychoudhuri, Rahul/0000-0002-5392-1853; Ji, Yun/0000-0001-6340-7009 FU Intramural Research Program of the US National Institutes of Health, National Institute of Allergy and Infectious Diseases; Intramural Research Program of the National Cancer Institute; Wellcome Trust Translational Medicine and Therapeutics Programme; Tiens Group FX This research was supported by the Intramural Research Programs of the US National Institutes of Health, National Institute of Allergy and Infectious Diseases, and National Cancer Institute. This study was also funded by a generous gift from Mr. Li Jinyuan, Chairman of the Tiens Group. We thank Brian J. Abraham for useful inputs on histone modification data analysis. Finally, Joseph G. Crompton acknowledges funding support from the Wellcome Trust Translational Medicine and Therapeutics Programme. NR 54 TC 8 Z9 8 U1 5 U2 7 PU CHIN SOCIETY IMMUNOLOGY PI BEING PA 5 DONGDAN SANTIAO, DONGCHEN DISTRICT, BEING, 100005, PEOPLES R CHINA SN 1672-7681 EI 2042-0226 J9 CELL MOL IMMUNOL JI Cell. Mol. Immunol. PD JUL PY 2016 VL 13 IS 4 BP 502 EP 513 DI 10.1038/cmi.2015.32 PG 12 WC Immunology SC Immunology GA DQ7GJ UT WOS:000379374600011 PM 25914936 ER PT J AU Derrick, SC Yabe, I Morris, S Cowley, S AF Derrick, Steven C. Yabe, Idalia Morris, Sheldon Cowley, Siobhan TI Induction of Unconventional T Cells by a Mutant Mycobacterium bovis BCG Strain Formulated in Cationic Liposomes Correlates with Protection against Mycobacterium tuberculosis Infections of Immunocompromised Mice SO CLINICAL AND VACCINE IMMUNOLOGY LA English DT Article ID BACILLUS-CALMETTE-GUERIN; IMMUNE-RESPONSES; ORAL VACCINATION; IN-VIVO; LYMPHOCYTES; CHALLENGE; VACCINES AB Earlier studies aimed at defining protective immunity induced by Mycobacterium bovis BCG immunization have largely focused on the induction of antituberculosis CD4(+) and CD8(+) T cell responses. Here we describe a vaccine consisting of a BCG Delta mmaA4 deletion mutant formulated in dimethyl dioctadecyl-ammonium bromide (DDA) with D-(+)-trehalose 6,6'-dibehenate (TDB) (DDA/TDB) adjuvant (A4/Adj) that protected TCR delta(-/-) mice depleted of CD4(+), CD8(+), and NK1.1(+) T cells against an aerosol challenge with M. tuberculosis. These mice were significantly protected relative to mice immunized with a nonadjuvanted BCG Delta mmaA4 (BCG-A4) mutant and nonvaccinated controls at 2 months and 9 months postvaccination. In the absence of all T cells following treatment with anti-Thy1.2 antibody, the immunized mice lost the ability to control the infection. These results indicate that an unconventional T cell population was mediating protection in the absence of CD4(+), CD8(+), NK1.1(+), and TCR gamma delta T cells and could exhibit memory. Focusing on CD4(-) CD8(-) double-negative (DN) T cells, we found that these cells accumulated in the lungs postchallenge significantly more in A4/Adj-immunized mice and induced significantly greater frequencies of pulmonary gamma interferon (IFN-gamma)-producing cells than were seen in the nonvaccinated or nonadjuvanted BCG control groups. Moreover, pulmonary DN T cells from the A4/Adj group exhibited significantly higher IFN-gamma integrated median fluorescence intensity (iMFI) values than were seen in the control groups. We also showed that enriched DN T cells from mice immunized with A4/Adj could control mycobacterial growth in vitro significantly better than naive whole-spleen cells. These results suggest that formulating BCG in DDA/TDB adjuvant confers superior protection in immunocompromised mice and likely involves the induction of long-lived memory DN T cells. C1 [Derrick, Steven C.; Morris, Sheldon; Cowley, Siobhan] US FDA, Ctr Biol Evaluat & Res, Silver Spring, MD 20993 USA. [Yabe, Idalia] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Derrick, SC (reprint author), US FDA, Ctr Biol Evaluat & Res, Silver Spring, MD 20993 USA. EM steven.derrick@fda.hhs.gov NR 38 TC 0 Z9 0 U1 5 U2 7 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 1556-6811 EI 1556-679X J9 CLIN VACCINE IMMUNOL JI Clin. Vaccine Immunol. PD JUL PY 2016 VL 23 IS 7 BP 638 EP 647 DI 10.1128/CVI.00232-16 PG 10 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA DQ9GB UT WOS:000379517300013 PM 27226281 ER PT J AU Bair, WN Prettyman, MG Beamer, BA Rogers, MW AF Bair, Woei-Nan Prettyman, Michelle G. Beamer, Brock A. Rogers, Mark W. TI Kinematic and behavioral analyses of protective stepping strategies and risk for falls among community living older adults SO CLINICAL BIOMECHANICS LA English DT Article DE Falls; Balance; Postural perturbation; Protective stepping ID LATERAL BALANCE RECOVERY; PERIPHERAL NEUROPATHY; PERTURBATIONS; RESPONSES; PEOPLE; LENGTH; YOUNG AB Background: Protective stepping evoked by externally applied lateral perturbations reveals balance deficits underlying falls. However, a lack of comprehensive information about the control of different stepping strategies in relation to the magnitude of perturbation limits understanding of balance control in relation to age and fall status. The aim of this study was to investigate different protective stepping strategies and their kinematic and behavioral control characteristics in response to different magnitudes of lateral waist-pulls between older fallers and non-fallers. Methods: Fifty-two community-dwelling older adults (16 falters) reacted naturally to maintain balance in response to five magnitudes of lateral waist-pulls. The balance tolerance limit (BTL, waist-pull magnitude where protective steps transitioned from single to multiple steps), first step control characteristics (stepping frequency and counts, spatial-temporal kinematic, and trunk position at landing) of four naturally selected protective step types were compared between fallers and non-fallers at- and above-BTL. Findings: Fallers took medial-steps most frequently while non-fallers most often took crossover-back-steps. Only non-fallers varied their step count and first step control parameters by step type at the instants of step initiation (onset time) and termination (trunk position), while both groups modulated step execution parameters (single stance duration and step length) by step type. Group differences were generally better demonstrated above-BTL. Interpretation: Fallers primarily used a biomechanically less effective medial-stepping strategy that may be partially explained by reduced somato-sensation. Fallers did not modulate their step parameters by step type at first step initiation and termination, instances particularly vulnerable to instability, reflecting their limitations in balance control during protective stepping. (C) 2016 Published by Elsevier Ltd. C1 [Bair, Woei-Nan; Prettyman, Michelle G.; Rogers, Mark W.] Univ Maryland, Sch Med, Dept Phys Therapy & Rehabil Sci, Baltimore, MD 21201 USA. [Beamer, Brock A.] VAMC GRECC, Div Gerontol & Geriatr Med, Baltimore, MD 21201 USA. [Bair, Woei-Nan] NIA, Baltimore Longitudinal Study Aging, Intramural Res Program, Baltimore, MD 21225 USA. RP Rogers, MW (reprint author), Univ Maryland, Sch Med, Dept Phys Therapy & Rehabil Sci, Baltimore, MD 21201 USA. EM MRogers@som.umaryland.edu OI Bair, Woei-Nan/0000-0003-3517-3123 FU NIH [R01AG029510]; University of Maryland Claude D. Pepper - Older Americans Independence Center Grant (OAIC) NIH/NIA [P30 AG028747]; University of Maryland Advanced Neuromotor Rehabilitation Research Training (UMANRRT) Program - National Institute of Disability and Rehabilitation Research (NIDRR) grant [H133P100014] FX This work was supported by the NIH grant R01AG029510, the University of Maryland Claude D. Pepper - Older Americans Independence Center Grant (OAIC) NIH/NIA grant P30 AG028747, and the University of Maryland Advanced Neuromotor Rehabilitation Research Training (UMANRRT) Program supported by the National Institute of Disability and Rehabilitation Research (NIDRR) grant H133P100014. NR 27 TC 0 Z9 0 U1 4 U2 5 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 0268-0033 EI 1879-1271 J9 CLIN BIOMECH JI Clin. Biomech. PD JUL PY 2016 VL 36 BP 74 EP 82 DI 10.1016/j.clinbiomech.2016.04.015 PG 9 WC Engineering, Biomedical; Orthopedics; Sport Sciences SC Engineering; Orthopedics; Sport Sciences GA DQ1MU UT WOS:000378965900012 PM 27228075 ER PT J AU Westbroek, W Nguyen, M Siebert, M Lindstrom, T Burnett, RA Aflaki, E Jung, O Tamargo, R Rodriguez-Gil, JL Acosta, W Hendrix, A Behre, B Tayebi, N Fujiwara, H Sidhu, R Renvoise, B Ginns, EI Dutra, A Pak, E Cramer, C Ory, DS Pavan, WJ Sidransky, E AF Westbroek, Wendy Nguyen, Matthew Siebert, Marina Lindstrom, Taylor Burnett, Robert A. Aflaki, Elma Jung, Olive Tamargo, Rafael Rodriguez-Gil, Jorge L. Acosta, Walter Hendrix, An Behre, Bahafta Tayebi, Nahid Fujiwara, Hideji Sidhu, Rohini Renvoise, Benoit Ginns, Edward I. Dutra, Amalia Pak, Evgenia Cramer, Carole Ory, Daniel S. Pavan, William J. Sidransky, Ellen TI A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease SO DISEASE MODELS & MECHANISMS LA English DT Article DE Gaucher disease; Glucocerebrosidase; Neuron; Glucosylceramide; Glucosylsphingosine ID SPORADIC PARKINSONS-DISEASE; ALPHA-SYNUCLEIN; T-ANTIGEN; SV40-MEDIATED IMMORTALIZATION; SUBSTANTIA-NIGRA; BRAIN MICROSOMES; EPITHELIAL-CELLS; LEWY BODIES; STEM-CELLS; CALCIUM AB Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various cell types and organs. Mutations in GBA1 are also a common genetic risk factor for Parkinson disease and related synucleinopathies. In recent years, research on the pathophysiology of Gaucher disease, the molecular link between Gaucher and Parkinson disease, and novel therapeutics, have accelerated the need for relevant cell models with GBA1 mutations. Although induced pluripotent stem cells, primary rodent neurons, and transfected neuroblastoma cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1. To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease. We successfully immortalized cortical neurons from embryonic null allele gba(-/-) mice and the control littermate (gba(+/+)) by infecting differentiated primary cortical neurons in culture with an EF1 alpha-SV40T lentivirus. Immortalized gba(-/-) neurons lack glucocerebrosidase protein and enzyme activity, and exhibit a dramatic increase in glucosylceramide and glucosylsphingosine accumulation, enlarged lysosomes, and an impaired ATP-dependent calcium-influx response; these phenotypical characteristics were absent in gba(+/+) neurons. This null allele gba(-/-) mouse neuronal model provides a much-needed tool to study the pathophysiology of Gaucher disease and to evaluate new therapies. C1 [Westbroek, Wendy; Nguyen, Matthew; Siebert, Marina; Lindstrom, Taylor; Burnett, Robert A.; Aflaki, Elma; Jung, Olive; Tamargo, Rafael; Behre, Bahafta; Tayebi, Nahid; Sidransky, Ellen] NHGRI, Sect Mol Neurogenet, Med Genet Branch, NIH, Bethesda, MD 20892 USA. [Siebert, Marina] Univ Fed Rio Grande do Sul, Postgrad Program Cellular & Mol Biol, BR-91501970 Porto Alegre, RS, Brazil. [Rodriguez-Gil, Jorge L.; Pavan, William J.] NHGRI, Genom Dev & Dis Sect, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA. [Acosta, Walter; Cramer, Carole] Biostrategies LC, State Univ, AR 72467 USA. [Hendrix, An] Ghent Univ Hosp, Dept Radiat Oncol & Expt Canc Res, Lab Expt Canc Res, B-9000 Ghent, Belgium. [Fujiwara, Hideji; Sidhu, Rohini; Ory, Daniel S.] Washington Univ, Sch Med, St Louis, MO 63110 USA. [Renvoise, Benoit] NINDS, Cell Biol Sect, Neurogenet Branch, NIH, Bethesda, MD 20892 USA. [Ginns, Edward I.] Univ Massachusetts, Lysosomal Disorders Treatment & Res Program, Clin Labs, Sch Med, Worcester, MA 01655 USA. [Dutra, Amalia; Pak, Evgenia] NHGRI, Cytogenet Core, NIH, Bethesda, MD 20892 USA. RP Sidransky, E (reprint author), NHGRI, Sect Mol Neurogenet, Med Genet Branch, NIH, Bethesda, MD 20892 USA. EM sidranse@mail.nih.gov RI Sidhu, Rohini/G-3547-2012 FU Intramural Research Programs of the National Human Genome Research Institute; Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (the Brazilian Federal Agency for Support and Evaluation of Graduate Education); Fulbright Brazil; University of Wisconsin-Madison Medical Scientist Program [3T32GM008692-18S1]; National Institutes of Health [R43 NS086326]; National Science Foundation [MRI grant] [DBI-0960089] FX This work was supported by the Intramural Research Programs of the National Human Genome Research Institute. M.S. received support from Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (the Brazilian Federal Agency for Support and Evaluation of Graduate Education) and Fulbright Brazil. J.L.R.-G. received support from University of Wisconsin-Madison Medical Scientist Program [3T32GM008692-18S1] as well as National Institutes of Health - Ox/Cam MD, PhD program. Mass spectrometry was performed in the Metabolomics Facility at Washington University [National Institutes of Health P30 DK020579]. Development of the high-content imaging assay was supported by National Institutes of Health [R43 NS086326] and National Science Foundation [MRI grant DBI-0960089] to W.A. and C.C. NR 62 TC 0 Z9 0 U1 5 U2 8 PU COMPANY OF BIOLOGISTS LTD PI CAMBRIDGE PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL, CAMBS, ENGLAND SN 1754-8403 EI 1754-8411 J9 DIS MODEL MECH JI Dis. Model. Mech. PD JUL 1 PY 2016 VL 9 IS 7 BP 769 EP 778 DI 10.1242/dmm.024588 PG 10 WC Cell Biology; Pathology SC Cell Biology; Pathology GA DQ9UW UT WOS:000379555800005 PM 27482815 ER PT J AU Ordonez, AA Tasneen, R Pokkali, S Xu, ZY Converse, PJ Klunk, MH Mollura, DJ Nuermberger, EL Jain, SK AF Ordonez, Alvaro A. Tasneen, Rokeya Pokkali, Supriya Xu, Ziyue Converse, Paul J. Klunk, Mariah H. Mollura, Daniel J. Nuermberger, Eric L. Jain, Sanjay K. TI Mouse model of pulmonary cavitary tuberculosis and expression of matrix metalloproteinase-9 SO DISEASE MODELS & MECHANISMS LA English DT Article DE Tuberculosis; Cavity; Computed tomography; Matrix metalloproteinases; Mice ID POSITRON-EMISSION-TOMOGRAPHY; MYCOBACTERIUM-TUBERCULOSIS; MATRIX METALLOPROTEINASES; C3HEB/FEJ MICE; RABBIT MODEL; STERILIZING ACTIVITY; DISEASE PROGRESSION; HUMAN MACROPHAGES; GENE-EXPRESSION; INNATE IMMUNITY AB Cavitation is a key pathological feature of human tuberculosis (TB), and is a well-recognized risk factor for transmission of infection, relapse after treatment and the emergence of drug resistance. Despite intense interest in the mechanisms underlying cavitation and its negative impact on treatment outcomes, there has been limited study of this phenomenon, owing in large part to the limitations of existing animal models. Although cavitation does not occur in conventional mouse strains after infection with Mycobacterium tuberculosis, cavitary lung lesions have occasionally been observed in C3HeB/FeJ mice. However, to date, there has been no demonstration that cavitation can be produced consistently enough to support C3HeB/FeJ mice as a new and useful model of cavitary TB. We utilized serial computed tomography (CT) imaging to detect pulmonary cavitation in C3HeB/FeJ mice after aerosol infection with M. tuberculosis. Post-mortem analyses were performed to characterize lung lesions and to localize matrix metalloproteinases (MMPs) previously implicated in cavitary TB in situ. A total of 47-61% of infected mice developed cavities during primary disease or relapse after non-curative treatments. Key pathological features of human TB, including simultaneous presence of multiple pathologies, were noted in lung tissues. Optical imaging demonstrated increased MMP activity in TB lesions and MMP-9 was significantly expressed in cavitary lesions. Tissue MMP-9 activity could be abrogated by specific inhibitors. In situ, three-dimensional analyses of cavitary lesions demonstrated that 22.06% of CD11b+ signal colocalized with MMP-9. C3HeB/FeJ mice represent a reliable, economical and tractable model of cavitary TB, with key similarities to human TB. This model should provide an excellent tool to better understand the pathogenesis of cavitation and its effects on TB treatments. C1 [Ordonez, Alvaro A.; Pokkali, Supriya; Klunk, Mariah H.; Jain, Sanjay K.] Johns Hopkins Univ, Ctr Infect & Inflammat Imaging Res, Sch Med, Baltimore, MD 21287 USA. [Ordonez, Alvaro A.; Tasneen, Rokeya; Pokkali, Supriya; Converse, Paul J.; Klunk, Mariah H.; Nuermberger, Eric L.; Jain, Sanjay K.] Johns Hopkins Univ, Ctr TB Res, Sch Med, Baltimore, MD 21287 USA. [Ordonez, Alvaro A.; Pokkali, Supriya; Klunk, Mariah H.; Jain, Sanjay K.] Johns Hopkins Univ, Dept Pediat, Sch Med, Baltimore, MD 21287 USA. [Tasneen, Rokeya; Converse, Paul J.; Nuermberger, Eric L.] Johns Hopkins Univ, Dept Med, Sch Med, Baltimore, MD 21287 USA. [Xu, Ziyue; Mollura, Daniel J.] NIH, Ctr Infect Dis Imaging, Bethesda, MD 20892 USA. RP Jain, SK (reprint author), Johns Hopkins Univ, Ctr Infect & Inflammat Imaging Res, Sch Med, Baltimore, MD 21287 USA.; Nuermberger, EL; Jain, SK (reprint author), Johns Hopkins Univ, Ctr TB Res, Sch Med, Baltimore, MD 21287 USA.; Jain, SK (reprint author), Johns Hopkins Univ, Dept Pediat, Sch Med, Baltimore, MD 21287 USA.; Nuermberger, EL (reprint author), Johns Hopkins Univ, Dept Med, Sch Med, Baltimore, MD 21287 USA. EM enuermb@jhmi.edu; sjain5@jhmi.edu FU National Institutes of Health [R01-EB-020539, DP2-OD-006492, R01-HL-116316, R01-AI-111992]; Bill and Melinda Gates Foundation [OPP1037174]; U.S. Food and Drug Administration [U18-FD-004004] FX This work was supported by the National Institutes of Health [Director's Transformative Research Award R01-EB-020539 to S.K.J., Director's New Innovator Award DP2-OD-006492 to S.K.J., R01-HL-116316 to S.K.J. and R01-AI-111992 to E.L.N.], the Bill and Melinda Gates Foundation [OPP1037174 to E.L.N.] and the U.S. Food and Drug Administration [U18-FD-004004 to E.L.N.]. NR 66 TC 3 Z9 3 U1 4 U2 5 PU COMPANY OF BIOLOGISTS LTD PI CAMBRIDGE PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL, CAMBS, ENGLAND SN 1754-8403 EI 1754-8411 J9 DIS MODEL MECH JI Dis. Model. Mech. PD JUL 1 PY 2016 VL 9 IS 7 BP 779 EP 788 DI 10.1242/dmm.025643 PG 10 WC Cell Biology; Pathology SC Cell Biology; Pathology GA DQ9UW UT WOS:000379555800006 PM 27482816 ER PT J AU Montagner, R Mogg, K Bradley, BP Pine, DS Czykiel, MS Miguel, EC Rohde, LA Manfro, GG Salum, GA AF Montagner, Rachel Mogg, Karin Bradley, Brendan P. Pine, Daniel S. Czykiel, Marcelo S. Miguel, Euripedes Constantino Rohde, Luis A. Manfro, Gisele G. Salum, Giovanni A. TI Attentional bias to threat in children at-risk for emotional disorders: role of gender and type of maternal emotional disorder SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Attention; Threat; Mother-child; Anxiety; Depression ID GENERALIZED ANXIETY DISORDER; COGNITIVE VULNERABILITY; PSYCHIATRIC-DISORDERS; PANIC DISORDER; DEPRESSION; MOTHERS; INFORMATION; FACES; ASSOCIATIONS; METAANALYSIS AB Previous studies suggested that threat biases underlie familial risk for emotional disorders in children. However, major questions remain concerning the moderating role of the offspring gender and the type of parental emotional disorder on this association. This study addresses these questions in a large sample of boys and girls. Participants were 6-12 years old (at screening) typically developing children participating in the High Risk Cohort Study for Psychiatric Disorders (n = 1280; 606 girls, 674 boys). Children were stratified according to maternal emotional disorder (none; mood disorder; anxiety disorder; comorbid anxiety/mood disorder) and gender. Attention biases were assessed using a dot-probe paradigm with threat, happy and neutral faces. A significant gender-by-parental emotional disorder interaction predicted threat bias, independent of anxiety and depression symptoms in children. Daughters of mothers with an emotional disorder showed increased attention to threat compared with daughters of disorder-free mothers, irrespective of the type of maternal emotion disorder. In contrast, attention bias to threat in boys only occurred in mothers with a non-comorbid mood disorder. No group differences were found for biases for happy-face cues. Gender and type of maternal emotional disorder predict attention bias in disorder-free children. This highlights the need for longitudinal research to clarify whether this pattern of threat-attention bias in children relates to the risk of developing anxiety and mood disorders later in life. C1 [Montagner, Rachel; Czykiel, Marcelo S.; Rohde, Luis A.; Manfro, Gisele G.; Salum, Giovanni A.] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Ramiro Barcelos 2350,Room 2202, BR-90035003 Porto Alegre, RS, Brazil. [Mogg, Karin; Bradley, Brendan P.] Univ Southampton, Southampton, Hants, England. [Pine, Daniel S.] NIMH, Intramural Res Program, Bethesda, MD 20892 USA. [Miguel, Euripedes Constantino; Rohde, Luis A.] Univ Sao Paulo, Sao Paulo, Brazil. [Miguel, Euripedes Constantino; Rohde, Luis A.; Manfro, Gisele G.; Salum, Giovanni A.] CNPq, INPD, Natl Inst Dev Psychiat Children & Adolescents, Sao Paulo, Brazil. RP Montagner, R (reprint author), Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Ramiro Barcelos 2350,Room 2202, BR-90035003 Porto Alegre, RS, Brazil. EM rachelmontagner@hotmail.com RI Mogg, Karin/C-1181-2008; OI Mogg, Karin/0000-0002-2738-7378; Salum, Giovanni/0000-0002-7537-7289 FU National Council for Scientific and Technological Development (CNPq); Brazilian Federal Agency for Support and Evaluation of Postgraduate Education (CAPES); Foundation for Research Support of the State of Sao Paulo (FAPESP) FX We thank the children and families for their participation, which made this research possible; the other members of the high-risk cohort research team; Dr Robert Goodman for his research support regarding the Development and Well-Being Assessment (DAWBA) instrument procedures and Dr Bacy Fleitlich-Bilyk for her clinical supervision. We also thank the National Institute of Mental Health (NIMH) Intramural Research Program. This work received funding from the following Brazilian government agencies: the National Council for Scientific and Technological Development (CNPq), the Brazilian Federal Agency for Support and Evaluation of Postgraduate Education (CAPES) and the Foundation for Research Support of the State of Sao Paulo (FAPESP). NR 39 TC 2 Z9 2 U1 9 U2 10 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1018-8827 EI 1435-165X J9 EUR CHILD ADOLES PSY JI Eur. Child Adolesc. Psych. PD JUL PY 2016 VL 25 IS 7 BP 735 EP 742 DI 10.1007/s00787-015-0792-3 PG 8 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA DR1CM UT WOS:000379643600006 PM 26547923 ER PT J AU Hvid, LG Strotmeyer, ES Skjodt, M Magnussen, LV Andersen, M Caserotti, P AF Hvid, Lars G. Strotmeyer, Elsa S. Skjodt, Mathias Magnussen, Line V. Andersen, Marianne Caserotti, Paolo TI Voluntary muscle activation improves with power training and is associated with changes in gait speed in mobility-limited older adults - A randomized controlled trial SO EXPERIMENTAL GERONTOLOGY LA English DT Article DE Aging; Voluntary muscle activation; Power training; Muscle function; Mobility; Gait speed ID PHYSICAL PERFORMANCE-MEASURES; SKELETAL-MUSCLE; BODY-COMPOSITION; WALKING SPEED; FUNCTIONAL PERFORMANCE; INTERPOLATED TWITCH; VALID MEASURE; STRENGTH; EXERCISE; PEOPLE AB Incomplete voluntary muscle activation may contribute to impaired muscle mechanical function and physical function in older adults. Exercise interventions have been shown to increase voluntary muscle activation, although the evidence is sparse for mobility-limited older adults, particularly in association with physical function. This study examined the effects of 12 weeks of power training on outcomes of voluntary muscle activation and gait speed in mobility-limited older adults from the Healthy Ageing Network of Competence (HANC) study. We included 37 older men and women with a usual gait speed of <0.9 m/s in the per-protocol analysis: n = 16 in the training group (TG: 12 weeks of progressive high-load power training, 2 sessions per week; age: 82.3 +/- 1.3 years, 56% women) and n = 21 in the control group (CG: no interventions; age: 81.6 +/- 1.1 years, 67% women). Knee extensor muscle thickness (ultrasonography), strength (isokinetic dynamometry), voluntary activation (interpolated twitch technique), and gait speed (2-min maximal walking test) were assessed at baseline and post-intervention. At baseline, TG and CG were comparable for all measures. Post-intervention, significant between-group changes (TG vs. CG; p < 0.05) were observed for voluntary muscle activation (+ 6.2%), muscle strength (+ 13.4 Nm), and gait speed (+ 0.12 m/s), whereas the between-group change in muscle thickness was non-significant (+ 0.08 cm). Improvements in voluntary muscle activation were associated with improvements in gait speed in TG (r = 0.67, p < 0.05). Importantly, voluntary muscle activation is improved in mobility-limited older adults following 12-weeks of progressive power training, and is associated with improved maximal gait speed. Incomplete voluntary muscle activation should be considered one of the key mechanisms influencing muscle mechanical function and gait speed in older adults. (C) 2016 Elsevier Inc. All rights reserved. C1 [Hvid, Lars G.; Skjodt, Mathias; Caserotti, Paolo] Univ Southern Denmark, SDU Muscle Res Cluster SMRC, Dept Sports Sci & Clin Biomech, Odense, Denmark. [Strotmeyer, Elsa S.] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Epidemiol, Ctr Aging & Populat Hlth, Pittsburgh, PA 15260 USA. [Magnussen, Line V.; Andersen, Marianne] Odense Univ Hosp, Dept Endocrinol, Odense, Denmark. [Caserotti, Paolo] NIA, NIH, Lab Epidemiol & Populat Sci LPES, Bethesda, MD 20892 USA. RP Hvid, LG (reprint author), Univ Southern Denmark, Dept Sports Sci & Clin Biomech, Campusvej 55, DK-5230 Odense M, Denmark. EM lhvid@health.sdu.dk OI Strotmeyer, Elsa/0000-0002-4093-6036 FU INTERREG 4a, European Regional Development Fund, European Union [104-1.5-11]; Municipality of Odense, Denmark FX We thank the subjects for their participation. The study was funded by the INTERREG 4a, European Regional Development Fund, European Union (PI: Paolo Caserotti, grant number 104-1.5-11), and the Municipality of Odense, Denmark. NR 52 TC 0 Z9 0 U1 5 U2 9 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0531-5565 EI 1873-6815 J9 EXP GERONTOL JI Exp. Gerontol. PD JUL PY 2016 VL 80 BP 51 EP 56 DI 10.1016/j.exger.2016.03.018 PG 6 WC Geriatrics & Gerontology SC Geriatrics & Gerontology GA DR0JR UT WOS:000379594300006 PM 27090485 ER PT J AU Burk, R Bollinger, L Johnson, JC Wada, J Radoshitzky, SR Palacios, G Bavari, S Jahrling, PB Kuhn, JH AF Burk, Robin Bollinger, Laura Johnson, Joshua C. Wada, Jiro Radoshitzky, Sheli R. Palacios, Gustavo Bavari, Sina Jahrling, Peter B. Kuhn, Jens H. TI Neglected filoviruses SO FEMS MICROBIOLOGY REVIEWS LA English DT Review DE cuevavirus; Ebola; ebolavirus; Filoviridae; filovirus; marburgvirus ID EBOLA-VIRUS-INFECTION; MARBURG HEMORRHAGIC-FEVER; LINKED-IMMUNOSORBENT-ASSAY; ENDOSOMAL CYSTEINE PROTEASES; PROTECTS NONHUMAN-PRIMATES; BATS ROUSETTUS-AEGYPTIACUS; RECEPTOR-DEFICIENT MICE; I INTERFERON RESPONSE; VERVET MONKEY DISEASE; SUBTYPE RESTON VIRUS AB Eight viruses are currently assigned to the family Filoviridae. Marburg virus, Sudan virus and, in particular, Ebola virus have received the most attention both by researchers and the public from 1967 to 2013. During this period, natural human filovirus disease outbreaks occurred sporadically in Equatorial Africa and, despite high case-fatality rates, never included more than several dozen to a few hundred infections per outbreak. Research emphasis shifted almost exclusively to Ebola virus in 2014, when this virus was identified as the cause of an outbreak that has thus far involved more than 28 646 people and caused more than 11 323 deaths in Western Africa. Consequently, major efforts are currently underway to develop licensed medical countermeasures against Ebola virus infection. However, the ecology of and mechanisms behind Ebola virus emergence are as little understood as they are for all other filoviruses. Consequently, the possibility of the future occurrence of a large disease outbreak caused by other less characterized filoviruses (i.e. Bundibugyo virus, Lloviu virus, Ravn virus, Reston virus and Tai Forest virus) is impossible to rule out. Yet, for many of these viruses, not even rudimentary research tools are available, let alone medical countermeasures. This review summarizes the current knowledge on these less well-characterized filoviruses.While Ebola virus dominates the headlines, other filoviruses remain largely uncharacterized but may pose equal risks to humans.While Ebola virus dominates the headlines, other filoviruses remain largely uncharacterized but may pose equal risks to humans. C1 [Burk, Robin; Bollinger, Laura; Johnson, Joshua C.; Wada, Jiro; Jahrling, Peter B.; Kuhn, Jens H.] NIAID, Integrated Res Facil Ft Detrick IRF Frederick, DCR, NIH, B-8200 Res Plaza, Frederick, MD 21702 USA. [Burk, Robin] Heidelberg Univ, Virol, Dept Infect Dis, D-69120 Heidelberg, Baden Wurttembe, Germany. [Radoshitzky, Sheli R.; Palacios, Gustavo; Bavari, Sina] US Army, Med Res Inst Infect Dis USAMRIID, 1425 Porter St, Frederick, MD 21702 USA. RP Kuhn, JH (reprint author), NIAID, Integrated Res Facil Ft Detrick IRF Frederick, DCR, NIH, B-8200 Res Plaza, Frederick, MD 21702 USA. EM kuhnjens@mail.nih.gov RI Palacios, Gustavo/I-7773-2015 OI Palacios, Gustavo/0000-0001-5062-1938 FU Battelle Memorial Institute; US National Institute of Allergy and Infectious Diseases (NIAID) [HHSN272200700016I]; Hartmut Hoffmann-Berling International Graduate School of Molecular and Cellular Biology (HBIGS) FX This work was supported in part through Battelle Memorial Institute's prime contract with the US National Institute of Allergy and Infectious Diseases (NIAID) under Contract No. HHSN272200700016I. LB, JCJ and JW performed this work as employees of Battelle Memorial Institute. A subcontractor to Battelle Memorial Institute who performed this work is: JHK, an employee of Tunnell Government Services, Inc. RB is supported by the Hartmut Hoffmann-Berling International Graduate School of Molecular and Cellular Biology (HBIGS). The content of this publication does not necessarily reflect the views or policies of the US Department of Health and Human Services, or the institutions and companies affiliated with the authors. NR 219 TC 1 Z9 1 U1 9 U2 16 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0168-6445 EI 1574-6976 J9 FEMS MICROBIOL REV JI Fems Microbiol. Rev. PD JUL PY 2016 VL 40 IS 4 BP 494 EP 519 AR fuw010 DI 10.1093/femsre/fuw010 PG 26 WC Microbiology SC Microbiology GA DR1VY UT WOS:000379694200004 PM 27268907 ER PT J AU Teos, LY Zheng, CY Liu, X Swaim, WD Goldsmith, CM Cotrim, AP Baum, BJ Ambudkar, IS AF Teos, L. Y. Zheng, C-Y Liu, X. Swaim, W. D. Goldsmith, C. M. Cotrim, A. P. Baum, B. J. Ambudkar, I. S. TI Adenovirus-mediated hAQP1 expression in irradiated mouse salivary glands causes recovery of saliva secretion by enhancing acinar cell volume decrease SO GENE THERAPY LA English DT Article ID INCREASED FLUID SECRETION; AQUAPORIN-1 CDNA; ORAL-CAVITY; RADIATION; HYPOFUNCTION; XEROSTOMIA; PROTECTION; DYSFUNCTION; HEAD; TRANSPLANTATION AB Head and neck irradiation (IR) during cancer treatment causes by-stander effects on the salivary glands leading to irreversible loss of saliva secretion. The mechanism underlying loss of fluid secretion is not understood and no adequate therapy is currently available. Delivery of an adenoviral vector encoding human aquaporin-1 (hAQP1) into the salivary glands of human subjects and animal models with radiation-induced salivary hypofunction leads to significant recovery of saliva secretion and symptomatic relief in subjects. To elucidate the mechanism underlying loss of salivary secretion and the basis for AdhAQP1-dependent recovery of salivary gland function we assessed submandibular gland function in control mice and mice 2 and 8 months after treatment with a single 15-Gy dose of IR (delivered to the salivary gland region). Salivary secretion and neurotransmitter-stimulated changes in acinar cell volume, an in vitro read-out for fluid secretion, were monitored. Consistent with the sustained 60% loss of fluid secretion following IR, a carbachol (CCh)-induced decrease in acinar cell volume from the glands of mice post IR was transient and attenuated as compared with that in cells from non-IR age-matched mice. The hAQP1 expression in non-IR mice induced no significant effect on salivary fluid secretion or CCh-stimulated cell volume changes, except in acinar cells from 8-month group where the initial rate of cell shrinkage was increased. Importantly, the expression of hAQP1 in the glands of mice post IR induced recovery of salivary fluid secretion and a volume decrease in acinar cells to levels similar to those in cells from non-IR mice. The initial rates of CCh-stimulated cell volume reduction in acinar cells from hAQP1-expressing glands post IR were similar to those from control cells. Altogether, the data suggest that expression of hAQP1 increases the water permeability of acinar cells, which underlies the recovery of fluid secretion in the salivary glands functionally compromised post IR. C1 [Teos, L. Y.; Liu, X.; Ambudkar, I. S.] NIDCR, Secretory & Physiol Sect, Mol Physiol & Therapeut Branch, NIH, 9000 Rockville Pike,Bldg10,Room 1N113, Bethesda, MD 20892 USA. [Zheng, C-Y; Goldsmith, C. M.; Cotrim, A. P.] NIDCR, Translat Res Core, Mol Physiol & Therapeut Branch, NIH, Bethesda, MD USA. [Swaim, W. D.; Baum, B. J.] NIDCR, Mol Physiol & Therapeut Branch, NIH, Bethesda, MD USA. RP Ambudkar, IS (reprint author), NIDCR, Secretory & Physiol Sect, Mol Physiol & Therapeut Branch, NIH, 9000 Rockville Pike,Bldg10,Room 1N113, Bethesda, MD 20892 USA. EM indu.ambudkar@nih.gov NR 37 TC 1 Z9 1 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0969-7128 EI 1476-5462 J9 GENE THER JI Gene Ther. PD JUL PY 2016 VL 23 IS 7 BP 572 EP 579 DI 10.1038/gt.2016.29 PG 8 WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity; Research & Experimental Medicine GA DR0GY UT WOS:000379587200004 PM 26966862 ER PT J AU Szomolay, B Liu, J Brown, PE Miles, JJ Clement, M Llewellyn-Lacey, S Dolton, G Ekeruche-Makinde, J Lissina, A Schauenburg, AJ Sewell, AK Burrows, SR Roederer, M Price, DA Wooldridge, L van den Berg, HA AF Szomolay, Barbara Liu, Jie Brown, Paul E. Miles, John J. Clement, Mathew Llewellyn-Lacey, Sian Dolton, Garry Ekeruche-Makinde, Julia Lissina, Anya Schauenburg, Andrea J. Sewell, Andrew K. Burrows, Scott R. Roederer, Mario Price, David A. Wooldridge, Linda van den Berg, Hugo A. TI Identification of human viral protein-derived ligands recognized by individual MHCI-restricted T-cell receptors SO IMMUNOLOGY AND CELL BIOLOGY LA English DT Article ID GRANULAR LYMPHOCYTE LEUKEMIA; KILL BETA-CELLS; CLASS-I; MULTIPLE-SCLEROSIS; PEPTIDE LIGANDS; MOLECULAR MIMICRY; CROSS-REACTIVITY; TCR; SPECIFICITY; ENGAGEMENT AB Evidence indicates that autoimmunity can be triggered by virus-specific CD8(+) T cells that crossreact with self-derived peptide epitopes presented on the cell surface by major histocompatibility complex class I (MHCI) molecules. Identification of the associated viral pathogens is challenging because individual T-cell receptors can potentially recognize up to a million different peptides. Here, we generate peptide length-matched combinatorial peptide library (CPL) scan data for a panel of virus-specific CD8(+) T-cell clones spanning different restriction elements and a range of epitope lengths. CPL scan data drove a protein database search limited to viruses that infect humans. Peptide sequences were ranked in order of likelihood of recognition. For all anti-viral CD8(+) T-cell clones examined in this study, the index peptide was either the top-ranked sequence or ranked as one of the most likely sequences to be recognized. Thus, we demonstrate that anti-viral CD8(+) T-cell clones are highly focused on their index peptide sequence and that 'CPL-driven database searching' can be used to identify the inciting virus-derived epitope for a given CD8(+) T-cell clone. Moreover, to augment access to CPL-driven database searching, we have created a publicly accessible webtool. Application of these methodologies in the clinical setting may clarify the role of viral pathogens in the etiology of autoimmune diseases. C1 [Szomolay, Barbara; Brown, Paul E.; van den Berg, Hugo A.] Univ Warwick, Warwick Syst Biol Ctr, Coventry, W Midlands, England. [Szomolay, Barbara; Clement, Mathew; Llewellyn-Lacey, Sian; Dolton, Garry; Schauenburg, Andrea J.; Sewell, Andrew K.; Price, David A.] Cardiff Univ, Inst Infect & Immun, Sch Med, Heath Pk, Cardiff, S Glam, Wales. [Liu, Jie; Roederer, Mario; Price, David A.] NIAID, Vaccine Res Ctr, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Miles, John J.; Burrows, Scott R.] QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia. [Ekeruche-Makinde, Julia] Imperial Coll, Wright Fleming Wing, St Marys Campus, London, England. [Lissina, Anya; Wooldridge, Linda] Univ Bristol, Fac Hlth Sci, Biomed Sci Bldg, Bristol BS8 1TD, Avon, England. RP Wooldridge, L (reprint author), Univ Bristol, Fac Hlth Sci, Biomed Sci Bldg, Bristol BS8 1TD, Avon, England. EM linda.wooldridge@bristol.ac.uk RI Price, David/C-7876-2013 OI Price, David/0000-0001-9416-2737 FU Biotechnology and Biological Sciences Research Council [BB/H001085/1]; Wellcome Trust [WT079848MA] FX We thank Professor Rodney Phillips for provision of clone 003. This work was supported by the Biotechnology and Biological Sciences Research Council (Grant BB/H001085/1) and the Wellcome Trust (WT079848MA). DAP and AKS are Wellcome Trust Investigators. NR 50 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0818-9641 EI 1440-1711 J9 IMMUNOL CELL BIOL JI Immunol. Cell Biol. PD JUL PY 2016 VL 94 IS 6 BP 573 EP 582 DI 10.1038/icb.2016.12 PG 10 WC Cell Biology; Immunology SC Cell Biology; Immunology GA DQ8VB UT WOS:000379488400008 PM 26846725 ER PT J AU Lissina, A Ambrozak, DR Boswell, KL Yang, WJ Boritz, E Wakabayashi, Y Iglesias, MC Hashimoto, M Takiguchi, M Haddad, E Douek, DC Zhu, J Koup, RA Yamamoto, T Appay, V AF Lissina, Anna Ambrozak, David R. Boswell, Kristin L. Yang, Wenjing Boritz, Eli Wakabayashi, Yoshiyuki Iglesias, Maria C. Hashimoto, Masao Takiguchi, Masafumi Haddad, Elias Douek, Daniel C. Zhu, Jun Koup, Richard A. Yamamoto, Takuya Appay, Victor TI Fine-tuning of CD8(+) T-cell effector functions by targeting the 2B4-CD48 interaction SO IMMUNOLOGY AND CELL BIOLOGY LA English DT Article ID CHRONIC VIRAL-INFECTION; SLAM FAMILY RECEPTORS; CUTTING EDGE; CLONAL EXPANSION; HUMAN GENOME; 3RD SIGNAL; 2B4 CD244; CHIP-SEQ; IN-VIVO; HIV AB Polyfunctionality and cytotoxic activity dictate CD8(+) T-cell efficacy in the eradication of infected and malignant cells. The induction of these effector functions depends on the specific interaction between the T-cell receptor (TCR) and its cognate peptide-MHC class I complex, in addition to signals provided by co-stimulatory or co-inhibitory receptors, which can further regulate these functions. Among these receptors, the role of 2B4 is contested, as it has been described as either co-stimulatory or co-inhibitory in modulating T-cell functions. We therefore combined functional, transcriptional and epigenetic approaches to further characterize the impact of disrupting the interaction of 2B4 with its ligand CD48, on the activity of human effector CD8(+) T-cell clones. In this setting, we show that the 2B4-CD48 axis is involved in the fine-tuning of CD8+ T-cell effector function upon antigenic stimulation. Blocking this interaction resulted in reduced CD8(+) T-cell clone-mediated cytolytic activity, together with a subtle drop in the expression of genes involved in effector function regulation. Our results also imply a variable contribution of the 2B4-CD48 interaction to the modulation of CD8(+) T-cell functional properties, potentially linked to intrinsic levels of T-bet expression and TCR avidity. The present study thus provides further insights into the role of the 2B4-CD48 interaction in the fine regulation of CD8(+) T-cell effector function upon antigenic stimulation. C1 [Lissina, Anna; Iglesias, Maria C.; Appay, Victor] Sorbonne Univ, Univ Paris 06, DHU FAST, Ctr Immunol & Malad Infect CIMI Paris,CR7, Paris, France. [Lissina, Anna; Iglesias, Maria C.; Appay, Victor] CIMI Paris, INSERM U1135, Paris, France. [Ambrozak, David R.; Boswell, Kristin L.; Koup, Richard A.; Yamamoto, Takuya] NIAID, Immunol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA. [Yang, Wenjing; Wakabayashi, Yoshiyuki; Zhu, Jun] NHLBI, Syst Biol Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. [Boritz, Eli; Douek, Daniel C.] NIAID, Human Immunol Sect, Vaccine Res Ctr, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hashimoto, Masao; Takiguchi, Masafumi] Kumamoto Univ, Ctr AIDS Res, Kumamoto, Japan. [Haddad, Elias] Vaccine & Gene Therapy Inst Florida, Lucie, FL USA. [Lissina, Anna] Univ Bristol, Fac Med & Vet Sci, C57 Med Sci Bldg, Bristol BS8 1TD, Avon, England. [Iglesias, Maria C.] Inst Nacl Enfermedades Resp, Ctr Invest Enfermedades Infecciosas, Mexico City 14080, DF, Mexico. [Yamamoto, Takuya] Natl Inst Biomed Innovat Hlth & Nutr, Lab Adjuvant Innovat, 7-6-8 Asagi Saito, Ibaraki, Osaka 5670085, Japan. RP Lissina, A (reprint author), Univ Bristol, Fac Med & Vet Sci, C57 Med Sci Bldg, Bristol BS8 1TD, Avon, England.; Yamamoto, T (reprint author), Natl Inst Biomed Innovat Hlth & Nutr, Lab Adjuvant Innovat, 7-6-8 Asagi Saito, Ibaraki, Osaka 5670085, Japan.; Yamamoto, T (reprint author), Natl Inst Biomed Innovat, Lab Adjuvant Innovat, 7-6-8 Asagi Saito, Ibaraki, Osaka 5670085, Japan. EM a.lissina@bristol.ac.uk; yamamotot2@nibiohn.go.jp RI Takiguchi, Masafumi/E-7468-2013; OI Yamamoto, Takuya/0000-0003-3753-1211 FU FRM [DEQ20120323690]; ANR [ANR-09-JCJC-0114-01]; French ANRS; Intramural Research Program of the Vaccine Research Center, NIAID, NIH FX This work was supported by the FRM (project DEQ20120323690), the ANR (project ANR-09-JCJC-0114-01), the French ANRS and by the Intramural Research Program of the Vaccine Research Center, NIAID, NIH. We are very grateful to Dr Yuka Kanno and Dr John O'Shea in NIAMS at NIH for kindly providing the protocol for ChIP-Seq. We thank Catherine Blanc for sorting viable T-cell clones at the Pitie-Salpetriere Flow Cytometry Platform. NR 57 TC 0 Z9 0 U1 0 U2 2 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0818-9641 EI 1440-1711 J9 IMMUNOL CELL BIOL JI Immunol. Cell Biol. PD JUL PY 2016 VL 94 IS 6 BP 583 EP 592 DI 10.1038/icb.2016.17 PG 10 WC Cell Biology; Immunology SC Cell Biology; Immunology GA DQ8VB UT WOS:000379488400009 PM 26860368 ER PT J AU Cotton, CC Baird, D Sandler, RS Long, MD AF Cotton, Cary C. Baird, Donna Sandler, Robert S. Long, Millie D. TI Hormonal Contraception Use is Common Among Patients with Inflammatory Bowel Diseases and an Elevated Risk of Deep Vein Thrombosis SO INFLAMMATORY BOWEL DISEASES LA English DT Article ID VENOUS THROMBOEMBOLISM; CROHNS-DISEASE; ORAL-CONTRACEPTIVES; PULMONARY-EMBOLISM; INCEPTION COHORT; ACTIVITY INDEX; UNITED-STATES; METAANALYSIS; WOMEN; RELAPSE AB Background:Persons with inflammatory bowel disease (IBD) have an increased risk of venous thromboembolism. We sought to examine whether the self-report of hormonal contraception (HC), as a proxy for exposure to estrogen-based contraception, was less common for women with multiple risk factors for venous thromboembolism.Methods:We examined the prevalence of personal use of hormonal birth control in a large internet-based cohort of patients with IBD. To determine whether HC was less common among patients with IBD with increased risk of thrombosis, we estimated unadjusted and adjusted prevalence ratios (PRs) for the use of HC.Results:Thousand four hundred ninety-nine female survey respondents answered optional fertility questions and were included in the analysis. The prevalence of HC was 33.7% (95% CI, 30.6%-36.9%) among women with Crohn's disease and was 32.6% (95% CI, 28.6%-36.8%) for women with ulcerative colitis. Women with one risk factor for thrombosis were not significantly less likely to receive HC (PR = 0.91, 95% CI: 0.76-1.08; adjusted PR = 0.94, 95% CI: 0.80-1.11) compared with women without risk factors nor were women with 2 or more risk factors (PR = 1.10, 95% CI 0.56-1.28; adjusted PR = 1.10, 95% CI: 0.83-1.45). The use of an intrauterine device was also similar between women with and without risk factors for venous thromboembolism.Conclusions:The prevalence of HC use in women with multiple risk factors was similar to that in women without risk factors, which represents an opportunity for prevention. Gastroenterologists should ask patients with IBD using HC about risk factors for thromboembolic disease to identify patients who may benefit from alternative contraception. C1 [Cotton, Cary C.; Sandler, Robert S.; Long, Millie D.] Univ N Carolina, Div Gastroenterol & Hepatol, Dept Med, Chapel Hill, NC USA. [Cotton, Cary C.; Sandler, Robert S.; Long, Millie D.] Ctr Gastrointestinal Biol & Dis, Chapel Hill, NC USA. [Baird, Donna] NIEHS, NIH, Epidemiol Branch, Res Triangle Pk, NC USA. RP Long, MD (reprint author), Univ N Carolina, Ctr Gastrointestinal Biol & Dis, Campus Box 7080, Chapel Hill, NC 27599 USA. EM millie_long@med.unc.edu RI Baird, Donna/D-5214-2017 OI Baird, Donna/0000-0002-5544-2653 FU National Institutes of Health [T32 DK07634, P30 DK034987]; Crohn's and Colitis Foundation of America FX Supported by grants from the National Institutes of Health (T32 DK07634, P30 DK034987) and by the Crohn's and Colitis Foundation of America. NR 59 TC 0 Z9 0 U1 2 U2 3 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1078-0998 EI 1536-4844 J9 INFLAMM BOWEL DIS JI Inflamm. Bowel Dis. PD JUL PY 2016 VL 22 IS 7 BP 1631 EP 1638 DI 10.1097/MIB.0000000000000800 PG 8 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA DR0RO UT WOS:000379614800017 PM 27306071 ER PT J AU Lu, YC Robbins, PF AF Lu, Yong-Chen Robbins, Paul F. TI Targeting neoantigens for cancer immunotherapy SO INTERNATIONAL IMMUNOLOGY LA English DT Review DE cancer immunotherapy; mutation; neoantigen; tumor immunology ID EXOME ANALYSIS REVEALS; T-CELLS; CTLA-4 BLOCKADE; METASTATIC MELANOMA; SOMATIC MUTATIONS; CLINICAL-RESPONSE; PD-1 BLOCKADE; GENETIC-BASIS; REGRESSION; THERAPY AB Neoantigens in cancer immunotherapy.Studies first carried out in the 1980s have demonstrated murine T cells can recognize mutated gene products, known as neoantigens, and that these T cells are capable of mediating tumor rejection. The first human tumor antigens isolated in the early 1990s were the products of non-mutated genes expressed in a tissue-specific manner; subsequent studies have indicated that tumor-infiltrating lymphocytes that are cultured in vitro frequently recognize mutated gene products. In addition, correlative studies indicate that clinical responses to therapies involving the use of antibodies directed against checkpoint inhibitors such as CTLA-4 and PD-1 may be associated with mutational burden, providing indirect evidence that these responses may primarily be mediated by neoantigen-reactive T cells. The importance of neoantigen-reactive T cells may be elucidated by the results of ongoing and future studies aimed at leveraging information gained from mutational profiling to enhance the potency of immunotherapies. C1 [Lu, Yong-Chen; Robbins, Paul F.] NCI, Surg Branch, NIH, Bldg 10 CRC,Rm 3W-5744,10 Ctr Dr, Bethesda, MD 20892 USA. RP Robbins, PF (reprint author), NCI, Surg Branch, NIH, Bldg 10 CRC,Rm 3W-5744,10 Ctr Dr, Bethesda, MD 20892 USA. EM paul_robbins@nih.gov NR 43 TC 6 Z9 6 U1 13 U2 29 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0953-8178 EI 1460-2377 J9 INT IMMUNOL JI Int. Immunol. PD JUL PY 2016 VL 28 IS 7 BP 365 EP 370 DI 10.1093/intimm/dxw026 PG 6 WC Immunology SC Immunology GA DR3AO UT WOS:000379775200007 PM 27208041 ER PT J AU Banerjee, S Coussens, NP Gallat, FX Sathyanarayanan, N Srikanth, J Yagi, KJ Gray, JSS Tobe, SS Stay, B Chavas, LMG Ramaswamy, S AF Banerjee, Sanchari Coussens, Nathan P. Gallat, Francois-Xavier Sathyanarayanan, Nitish Srikanth, Jandhyam Yagi, Koichiro J. Gray, James S. S. Tobe, Stephen S. Stay, Barbara Chavas, Leonard M. G. Ramaswamy, Subramanian TI Structure of a heterogeneous, glycosylated, lipid-bound, in vivo-grown protein crystal at atomic resolution from the viviparous cockroach Diploptera punctata SO IUCRJ LA English DT Article DE sulfur-SAD; glycosylation; viviparity in cockroach; protein heterogeneity ID MILK; CRYSTALLIZATION; EVOLUTION; LASER; CRYSTALLOGRAPHY; SIMULATION; LIPOCALINS; POLYHEDRA; BLATTARIA; SOFTWARE AB Macromolecular crystals for X-ray diffraction studies are typically grown in vitro from pure and homogeneous samples; however, there are examples of protein crystals that have been identified in vivo. Recent developments in micro-crystallography techniques and the advent of X-ray free-electron lasers have allowed the determination of several protein structures from crystals grown in cellulo. Here, an atomic resolution (1.2 angstrom) crystal structure is reported of heterogeneous milk proteins grown inside a living organism in their functional niche. These in vivo-grown crystals were isolated from the midgut of an embryo within the only known viviparous cockroach, Diploptera punctata. The milk proteins crystallized in space group P1, and a structure was determined by anomalous dispersion from the native S atoms. The data revealed glycosylated proteins that adopt a lipocalin fold, bind lipids and organize to form a tightly packed crystalline lattice. A single crystal is estimated to contain more than three times the energy of an equivalent mass of dairy milk. This unique storage form of nourishment for developing embryos allows access to a constant supply of complete nutrients. Notably, the crystalline cockroach-milk proteins are highly heterogeneous with respect to amino-acid sequence, glycosylation and bound fatty-acid composition. These data present a unique example of protein heterogeneity within a single in vivo-grown crystal of a natural protein in its native environment at atomic resolution. C1 [Banerjee, Sanchari; Sathyanarayanan, Nitish; Ramaswamy, Subramanian] Inst Stem Cell Biol & Regenerat Med, Bellary Rd,GKVK Campus, Bangalore 560065, Karnataka, India. [Coussens, Nathan P.; Gray, James S. S.; Ramaswamy, Subramanian] Univ Iowa, Carver Coll Med, Dept Biochim, Iowa City, IA 52242 USA. [Coussens, Nathan P.] NIH, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr, Rockville, MD 20850 USA. [Gallat, Francois-Xavier; Chavas, Leonard M. G.] High Energy Accelerator Res Org, Struct Biol Res Ctr, Tsukuba, Ibaraki 3050801, Japan. [Srikanth, Jandhyam; Ramaswamy, Subramanian] Ctr Cellular & Mol Platforms, Bellary Rd,GKVK Campus, Bangalore 560065, Karnataka, India. [Yagi, Koichiro J.; Tobe, Stephen S.] Univ Toronto, Dept Cell & Syst Biol, Toronto, ON M5S 3G5, Canada. [Gray, James S. S.] Biores Prod Inc, Cherry St, North Liberty, IA 52317 USA. [Stay, Barbara] Univ Iowa, Dept Biol, Iowa City, IA 52242 USA. [Chavas, Leonard M. G.] Synchrotron SOLEIL, Expt Div, BP 48, F-91192 Gif Sur Yvette, France. RP Ramaswamy, S (reprint author), Inst Stem Cell Biol & Regenerat Med, Bellary Rd,GKVK Campus, Bangalore 560065, Karnataka, India.; Ramaswamy, S (reprint author), Univ Iowa, Carver Coll Med, Dept Biochim, Iowa City, IA 52242 USA.; Chavas, LMG (reprint author), High Energy Accelerator Res Org, Struct Biol Res Ctr, Tsukuba, Ibaraki 3050801, Japan.; Ramaswamy, S (reprint author), Ctr Cellular & Mol Platforms, Bellary Rd,GKVK Campus, Bangalore 560065, Karnataka, India. EM leonard.chavas@synchrotron-soleil.fr; ramas@instem.res.in OI Subramanian, Ramaswamy/0000-0002-6709-190X FU Department of Biotechnology, Government of India [BT/PR5801/INF/22/156/2012] FX We thank the beamline crews at APS IMCA and GMCA and Kevin P. Battaile, BNL X12, ALS 4.2.2 and Jay Nix, SLS PXII and Ehmke Pohl, Photon Factory BL-1A and SOLEIL PROXIMA-1. We thank Jim Pflugrath for contributing to the fulfilment of this project. We thank infrastructure support from R. Sowdhamini, NCBS towards carrying out molecular dynamics simulations. SB would like to thank the Department of Biotechnology, Government of India for a fellowship. SR would like to acknowledge grant BT/PR5801/INF/22/156/2012 from the Department of Biotechnology, Government of India. NR 56 TC 0 Z9 0 U1 9 U2 17 PU INT UNION CRYSTALLOGRAPHY PI CHESTER PA 2 ABBEY SQ, CHESTER, CH1 2HU, ENGLAND SN 2052-2525 J9 IUCRJ JI IUCrJ PD JUL PY 2016 VL 3 BP 282 EP 293 DI 10.1107/S2052252516008903 PN 4 PG 12 WC Chemistry, Multidisciplinary; Crystallography; Materials Science, Multidisciplinary SC Chemistry; Crystallography; Materials Science GA DR0LQ UT WOS:000379599400009 PM 27437115 ER PT J AU Faldetta, KF Norton, SA AF Faldetta, Kimberly F. Norton, Scott A. TI The Toxic Touch-Cutaneous Poisoning in Classics and Shakespeare SO JAMA DERMATOLOGY LA English DT Editorial Material C1 [Faldetta, Kimberly F.] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Norton, Scott A.] Childrens Natl Med Ctr, Washington, DC 20010 USA. RP Faldetta, KF (reprint author), NIAID, NIH, 12735 Twinbrook Pkwy,Twinbrook 3,Room 3E20, Rockville, MD 20852 USA. EM kimberly.faldetta@nih.gov NR 3 TC 0 Z9 0 U1 2 U2 2 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6068 EI 2168-6084 J9 JAMA DERMATOL JI JAMA Dermatol. PD JUL PY 2016 VL 152 IS 7 BP 797 EP 797 DI 10.1001/jamadermatol.2015.5477 PG 1 WC Dermatology SC Dermatology GA DR0IB UT WOS:000379590100011 PM 27409048 ER PT J AU Hox, V O'Connell, MP Lyons, JJ Sackstein, P Dimaggio, T Jones, N Nelson, C Boehm, M Holland, SM Freeman, AF Tweardy, DJ Olivera, A Metcalfe, DD Milner, JD AF Hox, Valerie O'Connell, Michael P. Lyons, Jonathan J. Sackstein, Paul Dimaggio, Thomas Jones, Nina Nelson, Celeste Boehm, Manfred Holland, Steven M. Freeman, Alexandra F. Tweardy, David J. Olivera, Ana Metcalfe, Dean D. Milner, Joshua D. TI Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis SO JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY LA English DT Article DE Allergy; immunology; innate immunity; signal transducer and activator of transcription 3; autosomal dominant hyper-IgE syndrome ID ENDOTHELIAL GROWTH-FACTOR; CELL-CELL CONTACT; STEM-CELLS; CALCIUM-RELEASE; BETA-CATENIN; NITRIC-OXIDE; VE-CADHERIN; STAT3; EXPRESSION; DISEASE AB Background: During IgE-mediated immediate hypersensitivity reactions, vascular endothelial cells permeabilize in response to mast cell mediators. We have demonstrated previously that patients and mice with signal transducer and activator of transcription 3 (STAT3) mutations (autosomal dominant hyper-IgE syndrome [AD-HIES]) are partially protected from anaphylaxis. Objectives: We sought to study the mechanism by which STAT3 contributes to anaphylaxis and determine whether small-molecule inhibition of STAT3 can prevent anaphylaxis. Methods: Using unaffected and STAT3-inhibited or genetic loss-of-function samples, we performed histamine skin prick tests, investigated the contribution of STAT3 to animal models of anaphylaxis, and measured endothelial cell permeability, gene and protein expression, and histamine receptor-mediated signaling. Results: Although mouse mast cell degranulation was minimally affected by STAT3 blockade, mast cell mediator-induced anaphylaxis was blunted in Stat3 mutant mice with AD-HIES and in wild-type mice subjected to small-molecule STAT3 inhibition. Histamine skin prick test responses were diminished in patients with AD-HIES. Human umbilical vein endothelial cells derived from patients with AD-HIES or treated with a STAT3 inhibitor did not signal properly through Src or cause appropriate dissolution of the adherens junctions made up of the proteins vascular endothelial-cadherin and beta-catenin. Furthermore, we found that diminished STAT3 target microRNA17-92 expression in human umbilical vein endothelial cells from patients with AD-HIES is associated with increased phosphatase and tensin homolog (PTEN) expression, which inhibits Src, and increased E2F transcription factor 1 expression, which regulates beta-catenin cellular dynamics. Conclusions: These data demonstrate that STAT3-dependent transcriptional activity regulates critical components for the architecture and functional dynamics of endothelial junctions, thus permitting vascular permeability. C1 [Hox, Valerie; O'Connell, Michael P.; Lyons, Jonathan J.; Sackstein, Paul; Dimaggio, Thomas; Nelson, Celeste; Olivera, Ana; Metcalfe, Dean D.; Milner, Joshua D.] NIAID, Lab Allerg Dis, NIH, Bethesda, MD USA. [Holland, Steven M.; Freeman, Alexandra F.] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD USA. [Boehm, Manfred] NHLBI, Ctr Mol Med, NIH, Bethesda, MD USA. [Jones, Nina] Frederick Natl Lab Canc Res, Leidos Biomed Res, Clin Res Directorate CMRP, Frederick, MD USA. [Tweardy, David J.] Baylor Coll Med, Dept Med, Infect Dis Sect, Houston, TX USA. RP Milner, JD (reprint author), NIAID, Genet & Pathogenesis Allergy Sect, Lab Allerg Dis, NIH, NIH Bldg 10-CRC,Rm 5-3950,10 Ctr Dr, Bethesda, MD 20892 USA. EM jdmilner@niaid.nih.gov OI Lyons, Jonathan/0000-0002-2346-8189 FU Intramural Research Program of the National Institute of Allergy and Infectious Diseases; federal funds from the National Cancer Institute, National Institutes of Health [HHSN261200800001E] FX This research was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases. This project has been funded in part by federal funds from the National Cancer Institute, National Institutes of Health, under contract no. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. NR 52 TC 1 Z9 1 U1 5 U2 9 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0091-6749 EI 1097-6825 J9 J ALLERGY CLIN IMMUN JI J. Allergy Clin. Immunol. PD JUL PY 2016 VL 138 IS 1 BP 187 EP 199 DI 10.1016/j.jaci.2015.11.024 PG 13 WC Allergy; Immunology SC Allergy; Immunology GA DR1IL UT WOS:000379659100021 PM 26948077 ER PT J AU Elkaim, E Neven, B Bruneau, J Mitsui-Sekinaka, K Stanislas, A Heurtier, L Lucas, CL Matthews, H Deau, MC Sharapova, S Curtis, J Reichenbach, J Glastre, C Parry, DA Arumugakani, G McDermott, E Kilic, SS Yamashita, M Moshous, D Lamrini, H Otremba, B Gennery, A Coulter, T Quinti, I Stephan, JL Lougaris, V Brodszki, N Barlogis, V Asano, T Galicier, L Boutboul, D Nonoyama, S Cant, A Imai, K Picard, C Nejentsev, S Molina, TJ Lenardo, M Savic, S Cavazzana, M Fischer, A Durandy, A Kracker, S AF Elkaim, Elodie Neven, Benedicte Bruneau, Julie Mitsui-Sekinaka, Kanako Stanislas, Aurelie Heurtier, Lucie Lucas, Carrie L. Matthews, Helen Deau, Marie-Celine Sharapova, Svetlana Curtis, James Reichenbach, Janine Glastre, Catherine Parry, David A. Arumugakani, Gururaj McDermott, Elizabeth Kilic, Sara Sebnem Yamashita, Motoi Moshous, Despina Lamrini, Hicham Otremba, Burkhard Gennery, Andrew Coulter, Tanya Quinti, Isabella Stephan, Jean-Louis Lougaris, Vassilios Brodszki, Nicholas Barlogis, Vincent Asano, Takaki Galicier, Lionel Boutboul, David Nonoyama, Shigeaki Cant, Andrew Imai, Kohsuke Picard, Capucine Nejentsev, Sergey Molina, Thierry Jo Lenardo, Michael Savic, Sinisa Cavazzana, Marina Fischer, Alain Durandy, Anne Kracker, Sven TI Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study SO JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY LA English DT Article DE Primary immunodeficiency; phosphoinositide 3-kinase; p85 alpha; p110 delta; activated phosphoinositide 3-kinase delta syndrome; p110 delta-activating mutations causing senescent T cells; lymphadenopathy; and immunodeficiency; hyper-IgM; adenopathy; immunodeficiency; antibody deficiency ID HUMAN IMMUNODEFICIENCY; MUTATIONS; CELLS; KINASE; CANCER; GENE AB Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) 2 (p110 delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85 alpha, p55 alpha, and p50 alpha) of class IA phosphoinositide 3-kinases. Objectives: We sought to review the clinical, immunologic, and histopathologic phenotypes of APDS2 in a genetically defined international patient cohort. Methods: The medical and biological records of 36 patients with genetically diagnosed APDS2 were collected and reviewed. Results: Mutations within splice acceptor and donor sites of exon 11 of the PIK3R1 gene lead to APDS2. Recurrent upper respiratory tract infections (100%), pneumonitis (71%), and chronic lymphoproliferation (89%, including adenopathy [75%], splenomegaly [43%], and upper respiratory tract lymphoid hyperplasia [48%]) were the most common features. Growth retardation was frequently noticed (45%). Other complications were mild neurodevelopmental delay (31%); malignant diseases (28%), most of them being B-cell lymphomas; autoimmunity (17%); bronchiectasis (18%); and chronic diarrhea (24%). Decreased serum IgA and IgG levels (87%), increased IgM levels (58%), B-cell lymphopenia (88%) associated with an increased frequency of transitional B cells (93%), and decreased numbers of naive CD4 and naive CD8 cells but increased numbers of CD8 effector/memory T cells were predominant immunologic features. The majority of patients (89%) received immunoglobulin replacement; 3 patients were treated with rituximab, and 6 were treated with rapamycin initiated after diagnosis of APDS2. Five patients died from APDS2-related complications. Conclusion: APDS2 is a combined immunodeficiency with a variable clinical phenotype. Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, likely in the near future, selective phosphoinositide 3-kinase delta inhibitors are possible treatment options. C1 [Elkaim, Elodie; Neven, Benedicte; Moshous, Despina] Necker Childrens Hosp, AP HP, Dept Pediat Immunol Hematol & Rheumatol, Paris, France. [Elkaim, Elodie; Neven, Benedicte; Heurtier, Lucie; Deau, Marie-Celine; Moshous, Despina; Lamrini, Hicham; Picard, Capucine; Cavazzana, Marina; Fischer, Alain; Durandy, Anne; Kracker, Sven] INSERM UMR1163, Paris, France. [Bruneau, Julie; Mitsui-Sekinaka, Kanako; Heurtier, Lucie; Deau, Marie-Celine; Moshous, Despina; Lamrini, Hicham; Picard, Capucine; Molina, Thierry Jo] Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, Paris, France. [Bruneau, Julie; Molina, Thierry Jo] Hop Necker Enfants Malad, AP HP, Dept Pathol, Paris, France. [Mitsui-Sekinaka, Kanako; Imai, Kohsuke] Natl Def Med Coll, Dept Pediat, Saitama, Japan. [Stanislas, Aurelie; Cavazzana, Marina] Necker Childrens Hosp, AP HP, Ctr Invest Clin Integre Biotherapies, Dept Biotherapie, Paris, France. [Lucas, Carrie L.; Matthews, Helen; Lenardo, Michael] NIAID, Lab Immunol Mol Dev, Immune Syst Sect, NIAID Clin Genom Program,NIH, Bethesda, MD USA. [Sharapova, Svetlana] Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Minsk, Byelarus. [Curtis, James; Nejentsev, Sergey] Univ Cambridge, Dept Med, Cambridge, England. [Reichenbach, Janine] Univ Zurich, Univ Childrens Hosp Zurich, Competence Ctr Appl Biotechnol & Mol Med, Div Immunol,Childrens Res Ctr, Zurich, Switzerland. [Reichenbach, Janine] Univ Zurich, Swiss Ctr Regenerat Med, Zurich, Switzerland. [Glastre, Catherine] Ctr Hosp Annecy Genevois, Serv Pediat, Metz Tessy, France. [Parry, David A.] Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh, Midlothian, Scotland. [Arumugakani, Gururaj] St James Univ Hosp, Dept Clin Immunol & Allergy, Leeds, W Yorkshire, England. [McDermott, Elizabeth] Nottingham Univ Hosp, Nottingham, England. [Kilic, Sara Sebnem] Uludag Univ, Fac Med, Pediat Immunol Div, Bursa, Turkey. [Yamashita, Motoi; Imai, Kohsuke] Tokyo Med & Dent Univ, Sch Med, Dept Pediat, Tokyo, Japan. [Yamashita, Motoi] Tokyo Med & Dent Univ, Sch Med, Dept Dev Biol, Tokyo, Japan. [Otremba, Burkhard] Oncol Practice Oldenburg Delmenhorst, Oldenburg, Germany. [Gennery, Andrew] Great North Childrens Hosp, Inst Cellular Med, Paediat Immunol Dept, Newcastle Upon Tyne, Tyne & Wear, England. [Coulter, Tanya] St James Hosp, Trinity Coll Dublin, Sch Med, Dept Immunol, Dublin, Ireland. [Coulter, Tanya] Our Ladys Childrens Hosp Crumlin, Dept Pediat Immunol & Infect Dis, Dublin, Ireland. [Quinti, Isabella] Sapienza Univ Rome, Dept Mol Med, Rome, Italy. [Stephan, Jean-Louis] Hop Nord St Etienne, Dept Pediat, St Etienne, France. [Lougaris, Vassilios] Univ Brescia, Spedali Civili Brescia, Pediat Clin & Inst Mol Med A Nocivelli, Dept Clin & Expt Sci, Brescia, Italy. [Brodszki, Nicholas] Skane Univ Hosp, Childrens Hosp, Lund, Sweden. [Barlogis, Vincent] Serv Hematol Pediat, Marseille, France. [Asano, Takaki] Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan. [Galicier, Lionel; Boutboul, David] Univ Paris Diderot, Hop St Louis, AP HP, Dept Clin Immunol, Paris, France. [Picard, Capucine] Hop Necker Enfants Malad, Hop Paris, AP HP, Ctr Primary Immunodeficiencies, Paris, France. [Savic, Sinisa] St James Univ Hosp, NIHR LMBRU, Leeds, W Yorkshire, England. [Savic, Sinisa] St James Univ Hosp, LIRMM, Leeds, W Yorkshire, England. [Fischer, Alain] Coll France, Paris, France. RP Kracker, S (reprint author), Imagine Inst, INSERM U1163, 24 Blvd Montparnasse, F-75015 Paris, France. EM sven.kracker@inserm.fr RI Moshous, Despina/B-7507-2017 FU European Union's 7th RTD Framework Programme (ERC advanced grant PID-IMMUNE) [249816]; French Agence Nationale de la Recherche, "Investments for the Future'' program [ANR-10-IAHU-01]; Institut National de la Sante et de la Recherche Medicale; Fondation pour la Recherche Medicale [ING20130526624]; la Ligue Contre le Cancer (Comite de Paris); Centre de Reference Deficits Immunitaires Hereditaires (CEREDIH); Agence Nationale de la Recherche [ANR-15-CE15-0020]; Gebert Ruf Stiftung program "Rare Diseases-New Approaches'' [GRS-046/10]; EU-FP7 [CELL-PID HEALTH-261387]; Zurich Centre for Integrative Human Physiology (ZIHP); Gottfried und Julia Bangerter-Rhyner-Stiftung; Rossi Stiftung; European Research Council [260477]; EU FP7 [261441]; National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre; MEXT/JSPS; Ministry of Health Labor and Welfare; Ministry of Defense; Japan Agency for Medical Research and Development, AMED; National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (and Leeds Teaching Hospitals Charitable Foundation); National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Intramural Research Program of the National Institutes of Health/National Institute of Allergy and Infectious Diseases; Postdoctoral Research Associate (PRAT) Fellowship, National Institute of General Medical Sciences(NIGMS)/NIH; EU-FP7 NET4CGD FX A.F., A.D., and S.K. are supported by the European Union's 7th RTD Framework Programme (ERC advanced grant PID-IMMUNE contract 249816). A.F., A.D., M.C., and S.K. are supported by a government grant managed by the French Agence Nationale de la Recherche as part of the "Investments for the Future'' program (ANR-10-IAHU-01). S.K. is a researcher at the Centre National de la Recherche Scientifique-CNRS (France). A.F., A.D., M.C., and S.K. are supported by the Institut National de la Sante et de la Recherche Medicale. S.K. is also supported by the Fondation pour la Recherche Medicale (grant no. ING20130526624), la Ligue Contre le Cancer (Comite de Paris), the Centre de Reference Deficits Immunitaires Hereditaires (CEREDIH), and the Agence Nationale de la Recherche (ANR-15-CE15-0020 [ANR-PIKimun]). J.R. is supported by the Gebert Ruf Stiftung program "Rare Diseases-New Approaches'' (grant no. GRS-046/10), EU-FP7 CELL-PID HEALTH-2010-261387 and EU-FP7 NET4CGD, as well as the Zurich Centre for Integrative Human Physiology (ZIHP), the Gottfried und Julia Bangerter-Rhyner-Stiftung, and the Rossi Stiftung. S. Nejentsev is a Wellcome Trust Senior Research Fellow in Basic Biomedical Science (095198/Z/10/Z) and is also supported by the European Research Council Starting grant 260477, the EU FP7 collaborative grant 261441 (PEVNET project), and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre. S. Nonoyama is partially supported by grants from MEXT/JSPS, Ministry of Health Labor and Welfare, Ministry of Defense, and the Practical Research for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development, AMED. S.S. is supported by grants from National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (and Leeds Teaching Hospitals Charitable Foundation). T.C. is supported by National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland. M.L., C.L.L., and H.M. are supported by the Intramural Research Program of the National Institutes of Health/National Institute of Allergy and Infectious Diseases. C.L.L. was also supported by the Postdoctoral Research Associate (PRAT) Fellowship, National Institute of General Medical Sciences(NIGMS)/NIH. NR 18 TC 7 Z9 7 U1 4 U2 5 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0091-6749 EI 1097-6825 J9 J ALLERGY CLIN IMMUN JI J. Allergy Clin. Immunol. PD JUL PY 2016 VL 138 IS 1 BP 210 EP + DI 10.1016/j.jaci.2016.03.022 PG 18 WC Allergy; Immunology SC Allergy; Immunology GA DR1IL UT WOS:000379659100023 PM 27221134 ER PT J AU An, SS Mitzner, W Tang, WY Ahn, K Yoon, AR Huang, J Kilic, O Yong, HM Fahey, JW Kumar, S Biswal, S Holgate, ST Panettieri, RA Solway, J Liggett, SB AF An, Steven S. Mitzner, Wayne Tang, Wan-Yee Ahn, Kwangmi Yoon, A-Rum Huang, Jessie Kilic, Onur Yong, Hwan Mee Fahey, Jed W. Kumar, Sarvesh Biswal, Shyam Holgate, Stephen T. Panettieri, Reynold A., Jr. Solway, Julian Liggett, Stephen B. TI An inflammation-independent contraction mechanophenotype of airway smooth muscle in asthma SO JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY LA English DT Letter ID BRONCHI C1 [An, Steven S.; Mitzner, Wayne; Tang, Wan-Yee; Yoon, A-Rum; Huang, Jessie; Kilic, Onur; Yong, Hwan Mee; Kumar, Sarvesh; Biswal, Shyam] Johns Hopkins Univ, Dept Environm Hlth Sci, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA. [An, Steven S.] Johns Hopkins Univ, Dept Chem & Biomol Engn, Baltimore, MD 21218 USA. [Ahn, Kwangmi] NIH, Bldg 10, Bethesda, MD 20892 USA. [Fahey, Jed W.] Johns Hopkins Univ, Sch Med, Dept Pharmacol & Mol Sci, Cullman Chemoprotect Ctr, Baltimore, MD 21205 USA. [Holgate, Stephen T.] Univ Southampton, Sch Med, Southampton, Hants, England. [Panettieri, Reynold A., Jr.] Univ Penn, Med Ctr, Airways Biol Initiat, Div Pulm Allergy & Crit Care, Philadelphia, PA 19104 USA. [Solway, Julian] Univ Chicago, Dept Med, 5841 S Maryland Ave, Chicago, IL 60637 USA. [Liggett, Stephen B.] Univ S Florida, Morsani Coll Med, Dept Internal Med, Tampa, FL USA. [Liggett, Stephen B.] Univ S Florida, Morsani Coll Med, Mol Pharmacol & Physiol, Tampa, FL USA. [Liggett, Stephen B.] Univ S Florida, Morsani Coll Med, Ctr Personalized Med & Genom, Tampa, FL USA. RP An, SS (reprint author), Johns Hopkins Univ, Dept Environm Hlth Sci, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA.; An, SS (reprint author), Johns Hopkins Univ, Dept Chem & Biomol Engn, Baltimore, MD 21218 USA. EM san3@jhu.edu; sliggett@health.usf.edu FU Medical Research Council [G0400473, G19/34]; NHLBI NIH HHS [P01 HL114471, R01 HL045967, R01 HL097805, R01 HL107361, R37 HL045967, R56 HL045967] NR 9 TC 2 Z9 2 U1 0 U2 0 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0091-6749 EI 1097-6825 J9 J ALLERGY CLIN IMMUN JI J. Allergy Clin. Immunol. PD JUL PY 2016 VL 138 IS 1 BP 294 EP 297 DI 10.1016/j.jaci.2015.12.1315 PG 5 WC Allergy; Immunology SC Allergy; Immunology GA DR1IL UT WOS:000379659100036 PM 26936804 ER PT J AU Hsu, CW Shou, D Huang, RL Khuc, T Dai, S Zheng, W Klumpp-Thomas, C Xia, MH AF Hsu, Chia-Wen Shou, David Huang, Ruili Thai Khuc Dai, Sheng Zheng, Wei Klumpp-Thomas, Carleen Xia, Menghang TI Identification of HDAC Inhibitors Using a Cell-Based HDAC I/II Assay SO JOURNAL OF BIOMOLECULAR SCREENING LA English DT Article DE histone deacetylase; epigenetics; cancer; neurodegenerative disease; qHTS ID HISTONE DEACETYLASES; P53; ACETYLATION; CANCER; AGENTS AB Histone deacetylases (HDACs) are a class of epigenetic enzymes that regulate gene expression by histone deacetylation. Altered HDAC function has been linked to cancer and neurodegenerative diseases, making HDACs popular therapeutic targets. In this study, we describe a screening approach for identification of compounds that inhibit endogenous class I and II HDACs. A homogeneous, luminogenic HDAC I/II assay was optimized in a 1536-well plate format in several human cancer cell lines, including HCT116 and human neural stem cells. The assay confirmed 37 known HDAC inhibitors from two libraries of known epigenetics-active compounds. Using the assay, we identified a group of potential HDAC inhibitors by screening the National Center for Advancing Translational Sciences (NCATS) Pharmaceutical Collection of 2527 small-molecule drugs. The selected compounds showed similar HDAC I/II inhibitory potency and efficacy values in both HCT116 and neural stem cells. Several previously unidentified HDAC inhibitors were further evaluated and profiled for their selectivity against a panel of 10 HDAC I/II isoforms using fluorogenic HDAC biochemical assays. In summary, our results show that several novel HDAC inhibitors, including nafamostat and piceatannol, have been identified using the HDAC I/II cell-based assay, and multiple cell types have been validated for high-throughput screening of large chemical libraries. C1 [Hsu, Chia-Wen; Shou, David; Huang, Ruili; Thai Khuc; Dai, Sheng; Zheng, Wei; Klumpp-Thomas, Carleen; Xia, Menghang] Natl Ctr Adv Translat Sci, Bethesda, MD USA. RP Xia, MH (reprint author), NIH, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr, Bethesda, MD 20892 USA. EM mxia@mail.nih.gov RI Zheng, Wei/J-8889-2014 OI Zheng, Wei/0000-0003-1034-0757 FU National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH); National Institute of Environmental Health Sciences/Division of the National Toxicology Program [NTR 12003] FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by Intramural Research Program of the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), and the interagency agreement IAG #NTR 12003 from the National Institute of Environmental Health Sciences/Division of the National Toxicology Program to the NCATS/NIH. NR 16 TC 0 Z9 0 U1 1 U2 3 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1087-0571 EI 1552-454X J9 J BIOMOL SCREEN JI J. Biomol. Screen PD JUL PY 2016 VL 21 IS 6 BP 643 EP 652 DI 10.1177/1087057116629381 PG 10 WC Biochemical Research Methods; Biotechnology & Applied Microbiology; Chemistry, Analytical SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Chemistry GA DR1WF UT WOS:000379694900013 PM 26858181 ER PT J AU Zweifler, LE Ao, M Yadav, M Kuss, P Narisawa, S Kolli, TN Wimer, HF Farquharson, C Somerman, MJ Millan, JL Foster, BL AF Zweifler, L. E. Ao, M. Yadav, M. Kuss, P. Narisawa, S. Kolli, T. N. Wimer, H. F. Farquharson, C. Somerman, M. J. Millan, J. L. Foster, B. L. TI Role of PHOSPHO1 in Periodontal Development and Function SO JOURNAL OF DENTAL RESEARCH LA English DT Article DE cementum; dentin; bone; periodontal ligament; extracellular matrix; physiologic calcification ID EXTRINSIC FIBER CEMENTUM; BSP-NULL MICE; SKELETAL MINERALIZATION; ALKALINE-PHOSPHATASE; MATRIX VESICLES; BONE; DEFECTS; DENTIN; MODEL; CALCIFICATION AB The tooth root and periodontal apparatus, including the acellular and cellular cementum, periodontal ligament (PDL), and alveolar bone, are critical for tooth function. Cementum and bone mineralization is regulated by factors including enzymes and extracellular matrix proteins that promote or inhibit hydroxyapatite crystal growth. Orphan Phosphatase 1 (Phospho1, PHOSPHO1) is a phosphatase expressed by chondrocytes, osteoblasts, and odontoblasts that functions in skeletal and dentin mineralization by initiating deposition of hydroxyapatite inside membrane-limited matrix vesicles. The role of PHOSPHO1 in periodontal formation remains unknown and we aimed to determine its functional importance in these tissues. We hypothesized that the enzyme would regulate proper mineralization of the periodontal apparatus. Spatiotemporal expression of PHOSPHO1 was mapped during periodontal development, and Phospho1(-/-) mice were analyzed using histology, immunohistochemistry, in situ hybridization, radiography, and micro-computed tomography. The Phospho1 gene and PHOSPHO1 protein were expressed by active alveolar bone osteoblasts and cementoblasts during cellular cementum formation. In Phospho1(-/-) mice, acellular cementum formation and mineralization were unaffected, whereas cellular cementum deposition increased although it displayed delayed mineralization and cementoid. Phospho1(-/-) mice featured disturbances in alveolar bone mineralization, shown by accumulation of unmineralized osteoid matrix and interglobular patterns of protein deposition. Parallel to other skeletal sites, deposition of mineral-regulating protein osteopontin (OPN) was increased in alveolar bone in Phospho1(-/-) mice. In contrast to the skeleton, genetic ablation of Spp1, the gene encoding OPN, did not ameliorate dentoalveolar defects in Phospho1(-/-) mice. Despite alveolar bone mineralization defects, periodontal attachment and function appeared undisturbed in Phospho1(-/-) mice, with normal PDL architecture and no evidence of bone loss over time. This study highlights the role of PHOSPHO1 in mineralization of alveolar bone and cellular cementum, further revealing that acellular cementum formation is not substantially regulated by PHOSPHO1 and likely does not rely on matrix vesicle-mediated initiation of mineralization. C1 [Zweifler, L. E.; Kolli, T. N.; Foster, B. L.] Ohio State Univ, Coll Dent, Div Biosci, 305 W 12th Ave,4163 Postle Hall, Columbus, OH 43210 USA. [Ao, M.; Somerman, M. J.] NIAMSD, NIH, Bethesda, MD 20892 USA. [Yadav, M.; Kuss, P.; Narisawa, S.; Millan, J. L.] Sanford Burnham Prebys Med Discovery Inst, Sanford Childrens Hlth Res Ctr, La Jolla, CA USA. [Wimer, H. F.] Smithsonian Inst, Natl Museum Nat Hist, Dept Vertebrate Zool, Washington, DC 20560 USA. [Wimer, H. F.] NIDCR, NIH, Bethesda, MD USA. [Farquharson, C.] Univ Edinburgh, Roslin Inst, Easter Bush, Midlothian, Scotland. [Farquharson, C.] Univ Edinburgh, Royal Dick Sch Vet Studies, Easter Bush, Midlothian, Scotland. RP Foster, BL (reprint author), Ohio State Univ, Coll Dent, Div Biosci, 305 W 12th Ave,4163 Postle Hall, Columbus, OH 43210 USA. EM foster.1004@osu.edu FU National Institutes of Health (NIH) National Institute for Dental and Craniofacial Research (NIDCR) [DE12889]; Biotechnology and Biological Sciences Research Council [BB/J004316/1]; NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) [AR53102, AR066110]; NIAMS; Ohio State University College of Dentistry FX This research was supported by grants from the National Institutes of Health (NIH) National Institute for Dental and Craniofacial Research (NIDCR) (DE12889 to J.L.M.), the Biotechnology and Biological Sciences Research Council (BB/J004316/1 to C.F.), the NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) (AR53102 to J.L.M. and AR066110 to B.L.F.), and the Intramural Research Program of NIAMS (to M.J.S.), as well as by a Dr. Rudy Melfi Fellowship from the Ohio State University College of Dentistry (to L.E.Z.). The authors thank Nasrin Kalantari Pour (NIAMS/NIH) for histology, Anne Tran and Alyssa Coulter (NIAMS/NIH) for assistance with immunostaining, Kristina Zaal (NIAMS Light Imaging Section) for assistance with slide scanning, Kenn Holmbeck (NIDCR/NIH) for assistance with micro-CT scanning, and Lyudmila Lukashova (Hospital for Special Surgery) for assistance with micro-CT analysis. The authors declare no potential conflicts of interest with respect to the authorship and/or publication of this article. NR 33 TC 0 Z9 0 U1 3 U2 5 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0022-0345 EI 1544-0591 J9 J DENT RES JI J. Dent. Res. PD JUL PY 2016 VL 95 IS 7 BP 742 EP 751 DI 10.1177/0022034516640246 PG 10 WC Dentistry, Oral Surgery & Medicine SC Dentistry, Oral Surgery & Medicine GA DQ9UQ UT WOS:000379555200003 PM 27016531 ER PT J AU Shetty, V Harrell, L Clague, J Murphy, DA Dye, BA Belin, TR AF Shetty, V. Harrell, L. Clague, J. Murphy, D. A. Dye, B. A. Belin, T. R. TI Methamphetamine Users Have Increased Dental Disease: A Propensity Score Analysis SO JOURNAL OF DENTAL RESEARCH LA English DT Article DE methamphetamine use; high rates; distinctive patterns; propensity score matching; NHANES controls; epidemiology ID EXAMINATION SURVEY NHANES; ORAL-HEALTH COMPONENT; QUALITY-ASSURANCE; METH-MOUTH; NATIONAL-HEALTH; CARIES AB Methamphetamine (MA) users are assumed to have a high burden of tooth decay. Less clear is how the distribution and severity of dental caries in MA users differ from the general population. Using a covariate-balancing propensity score strategy, we investigated the differential effects of MA use on dental caries by comparing the patterns of decayed, missing, and filled teeth in a community sample of 571 MA users with a subset of 2,755 demographically similar control individuals selected from a National Health and Nutrition Examination Survey (NHANES) cohort. Recruited over a 2-y period with a stratified sampling protocol, the MA users underwent comprehensive dental examinations by 3 trained and calibrated dentists using NHANES protocols. Propensity scores were estimated with logistic regression based on background characteristics, and a subset of closely matched subjects was stratified into quintiles for comparisons. MA users were twice as likely to have untreated caries (odds ratio [OR] = 2.08; 95% confidence interval [95% CI]: 1.55 to 2.78) and 4 times more likely to have caries experience (OR = 4.06; 95% CI: 2.24 to 7.34) than the control group of NHANES participants. Additionally, MA users were twice as likely to have 2 more decayed, missing, or filled teeth (OR = 2.08; 95% CI: 1.29 to 2.79) than the NHANES participants. The differential involvement of the teeth surfaces in MA users was quite distinctive, with carious surface involvement being highest for the maxillary central incisors, followed by maxillary posterior premolars and molars. Users injecting MA had significantly higher rates of tooth decay compared with noninjectors (P = 0.04). Although MA users experienced decayed and missing dental surfaces more frequently than NHANES participants, NHANES participants had more restored surfaces, especially on molars. The high rates and distinctive patterns of dental caries observed could be used 1) to alert dentists to covert MA use in their patients and 2) as the basis for comprehensive management strategies. C1 [Shetty, V.; Harrell, L.; Clague, J.] Univ Calif Los Angeles, Sch Dent, Los Angeles, CA 90024 USA. [Harrell, L.; Clague, J.] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Biostat, Los Angeles, CA 90024 USA. [Murphy, D. A.; Belin, T. R.] Univ Calif Los Angeles, Integrated Subst Abuse Programs, Los Angeles, CA 90024 USA. [Dye, B. A.] NIDCR, NIH, Bethesda, MD USA. RP Shetty, V (reprint author), 23 009 UCLA Sch Dent, 10833 Le Conte Ave, Los Angeles, CA 90095 USA. EM vhetty@ucla.edu FU National Institutes of Health / National Institute on Drug Abuse [5R01DA25680] FX This study was funded by the National Institutes of Health / National Institute on Drug Abuse (5R01DA25680: V. Shetty), which had no role in the design of the study; in the collection, analysis, and interpretation of data; or in the writing of the report. The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the National Institute on Drug Abuse, the National Institutes of Health, or the Centers for Disease Control and Prevention. We wish to acknowledge the efforts of Peter Cebezas (interviewer) and Rachel Fintzy (project director), who were responsible for recruitment, study coordination, and data collection. We gratefully acknowledge the participation and support of the subjects as well as the administrative and clinical staff of the clinics that participated in the study. The authors declare no potential conflicts of interest with respect to the authorship and/or publication of this article. NR 30 TC 1 Z9 1 U1 1 U2 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0022-0345 EI 1544-0591 J9 J DENT RES JI J. Dent. Res. PD JUL PY 2016 VL 95 IS 7 BP 814 EP 821 DI 10.1177/0022034516640478 PG 8 WC Dentistry, Oral Surgery & Medicine SC Dentistry, Oral Surgery & Medicine GA DQ9UQ UT WOS:000379555200012 PM 26994107 ER PT J AU Lu, YY Chen, LH Zhao, BH Xiao, Z Meng, T Zhou, QL Zhang, WZ AF Lu, Yiyang Chen, Lihe Zhao, Binhong Xiao, Zhou Meng, Ting Zhou, Qiaoling Zhang, Wenzheng TI Urine AQP5 is a potential novel biomarker of diabetic nephropathy SO JOURNAL OF DIABETES AND ITS COMPLICATIONS LA English DT Article DE Water channels; Diabetes; Gene expression; Kidney biopsy; Urinary biomarker ID RETINOL-BINDING-PROTEIN; EXCRETION; AQUAPORIN-5; PROGRESSION; EXPRESSION; MICROALBUMINURIA; DECLINE; ALBUMIN; CANCER; CELLS AB Aims: To investigate if urinary AQP5 serves as a new potential biomarker of diabetic nephropathy. Methods: Using an AQP5-specific enzyme-linked immunosorbent assay, we measured serum and urine AQP5 first in a cohort consisting of normal controls (n = 26) and patients with diabetes mellitus (n = 25) or diabetic nephropathy (n = 33) and then in a validation cohort possessing normal controls (n = 10), patients with diabetes mellitus (n = 10) or diabetic nephropathy (n = 14), and patients with chronic kidney disease of unknown etiology (n = 10). We used various statistical methods including Pearson's correlation coefficient, ANOVA with Holm-Sidak test, Receiver Operator Curve, and multiple logistic regression to analyze the data. Results: Urine AQP5/creatinine 1) is significantly higher in diabetic nephropathy than in other two groups, and in diabetic nephropathy stage V than in stage III; 2) correlates with serum creatinine, urine albumin, and multiple other known risk factors of the disease; and 3) improves the clinical models in distinguishing diabetic nephropathy from normal controls and diabetic mellitus. Conclusion: Our data suggest that urine AQP5/creatinine may possess diagnostic and prognostic values as a biomarker of diabetic nephropathy. (C) 2016 Elsevier Inc. All rights reserved. C1 [Lu, Yiyang; Xiao, Zhou; Meng, Ting; Zhou, Qiaoling] Cent S Univ, Dept Internal Med, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China. [Chen, Lihe] NHLBI, Epithelial Syst Biol Lab, Syst Biol Ctr, Bethesda, MD 20892 USA. [Zhao, Binhong] Univ Texas Houston, Med Sch Houston, Dept Pathol & Lab Med, 6431 Fannin St, Houston, TX 77030 USA. [Zhang, Wenzheng] Albany Med Coll, MC-165,47 New Scotland Ave, Albany, NY 12208 USA. [Lu, Yiyang] Univ Cincinnati, Pathol & Lab Med Coll Med, Med Sci Bldg,Mail Locat 0529, Cincinnati, OH 45267 USA. RP Zhang, WZ (reprint author), Albany Med Coll, MC-165,47 New Scotland Ave, Albany, NY 12208 USA. EM luy6@mail.uc.edu; zhangw1@mail.amc.edu OI Zhao, Bihong/0000-0002-1444-0686 FU National Institutes of Health [R01 DK080236, R21 R21DK104073]; National Natural Science Foundation of China (NSFC) [81173401, 81470933] FX We thank Paul J. Higgins for reviewing and editing the manuscript. This work was supported by the following grants: National Institutes of Health Grants R01 DK080236 (to W.Z.Z.) and R21 R21DK104073 (to W.Z.Z), and The National Natural Science Foundation of China (NSFC) grants 81173401 and 81470933 (both to Q.L.Z.). The work was initiated when LC pursued his Ph.D. program in W.Z.Z's lab at the University of Texas Medical School at Houston. NR 34 TC 1 Z9 1 U1 3 U2 6 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1056-8727 EI 1873-460X J9 J DIABETES COMPLICAT JI J. Diabetes Complications PD JUL PY 2016 VL 30 IS 5 BP 819 EP 825 DI 10.1016/j.jdiacomp.2016.03.026 PG 7 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DP8PI UT WOS:000378759700011 PM 27103565 ER PT J AU Wheelock, KM Jaiswal, M Martin, CL Fufaa, GD Weil, EJ Lemley, KV Yee, B Feldman, E Brosius, FC Knowler, WC Nelson, RG Pop-Busui, R AF Wheelock, Kevin M. Jaiswal, Mamta Martin, Catherine L. Fufaa, Gudeta D. Weil, E. Jennifer Lemley, Kevin V. Yee, Berne Feldman, Eva Brosius, Frank C., III Knowler, William C. Nelson, Robert G. Pop-Busui, Rodica TI Cardiovascular autonomic neuropathy associates with nephropathy lesions in American Indians with type 2 diabetes SO JOURNAL OF DIABETES AND ITS COMPLICATIONS LA English DT Article DE Type 2 diabetes; Cardiovascular autonomic neuropathy; Diabetic nephropathy; American Indians; Kidney biopsy ID HEART-RATE-VARIABILITY; KIDNEY-DISEASE; IDDM PATIENTS; NATURAL-HISTORY; PROGRESSION; PRESSURE; MICROALBUMINURIA; COMPLICATIONS; DYSFUNCTION; PREDICTS AB Aims: Cardiovascular autonomic neuropathy (CAN) predicts clinical diabetic nephropathy (DN). We investigated the relationship between DN structural lesions and CAN. Methods: Sixty three Pima Indians with type 2 diabetes underwent kidney biopsies following a 6-year clinical trial testing the renoprotective efficacy of losartan vs. placebo. CAN was assessed a median 9.2 years later. CAN variables included expiration/inspiration ratio (E/I), standard deviation of the normal R-R interval (sdNN), and low and high frequency signal power and their ratio (LF, HF, LF/HF); lower values reflect more severe neuropathy. Associations of CAN with renal structural variables were assessed by linear regression adjusted for age, sex, diabetes duration, blood pressure, HbA1c, glomerular filtration rate, and treatment assignment during the trial. Results: Global glomerular sclerosis was negatively associated with sdNN (partial r = -0.35, p = 0.01) and LF (r = -032, p = 0.02); glomerular basement membrane width was negatively associated with all measures of CAN except for LF/HF (r = -0.28 to -0.42, p < 0.05); filtration surface density was positively associated with sdNN, LF, and HF (r = 0.31 to 0.38, p < 0.05); and cortical interstitial fractional volume was negatively associated with HF (r = -0.27, p = 0.04). Conclusions: CAN associates with DN lesions. Published by Elsevier Inc. C1 [Wheelock, Kevin M.; Fufaa, Gudeta D.; Weil, E. Jennifer; Knowler, William C.; Nelson, Robert G.] Phoenix Epidemiol & Clin Res Branch, Phoenix, AZ USA. [Jaiswal, Mamta; Martin, Catherine L.; Brosius, Frank C., III; Pop-Busui, Rodica] Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI USA. [Lemley, Kevin V.] Univ So Calif, Dept Pediat, Keck Sch Med, Los Angeles, CA 90089 USA. [Yee, Berne] Southwest Kidney Inst, Phoenix, AZ USA. [Feldman, Eva] Univ Michigan, Sch Med, Dept Neurol, Ann Arbor, MI USA. RP Nelson, RG (reprint author), NIDDK, Phoenix Epidemiol & Clin Res Branch, NIH, 1550 E Indian Sch Rd, Phoenix, AZ 85014 USA. EM rnelson@phx.niddk.nih.gov FU Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases; American Diabetes Association [1-08-CR-42, 1-14-MN-02]; [R01-HL-102334] FX This research was supported by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases and by the American Diabetes Association (Clinical Science Award 1-08-CR-42), and in part by R01-HL-102334 and the American Diabetes Association 1-14-MN-02 to R.P.-B. The funding sources played no role in data collection, study design, or drafting of the manuscript. NR 41 TC 2 Z9 2 U1 3 U2 5 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1056-8727 EI 1873-460X J9 J DIABETES COMPLICAT JI J. Diabetes Complications PD JUL PY 2016 VL 30 IS 5 BP 873 EP 879 DI 10.1016/j.jdiacomp.2016.03.008 PG 7 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DP8PI UT WOS:000378759700021 PM 27041674 ER PT J AU Miranda, RA Torrezan, R de Oliveira, JC Barella, LF Franco, CCD Lisboa, PC Moura, EG Mathias, PCF AF Miranda, Rosiane A. Torrezan, Rosana de Oliveira, Julio C. Barella, Luiz F. da Silva Franco, Claudineia C. Lisboa, Patricia C. Moura, Egberto G. Mathias, Paulo C. F. TI HPA axis and vagus nervous function are involved in impaired insulin secretion of MSG-obese rats SO JOURNAL OF ENDOCRINOLOGY LA English DT Article DE HPA axis; PNS; insulin secretion; M-3 muscarinic receptor; MSG rats ID HIGH-FAT DIET; MONOSODIUM GLUTAMATE; ADIPOSE-TISSUE; GLUCOSE-HOMEOSTASIS; METABOLIC SYNDROME; DIABETES-MELLITUS; PANCREATIC-ISLETS; GENE-EXPRESSION; TREATED-RATS; IN-VIVO AB Neuroendocrine dysfunctions such as the hyperactivity of the vagus nerve and hypothalamus-pituitary-adrenal (HPA) axis greatly contribute to obesity and hyperinsulinemia; however, little is known about these dysfunctions in the pancreatic beta-cells of obese individuals. We used a hypothalamic-obesity model obtained by neonatal treatment with monosodium l-glutamate (MSG) to induce obesity. To assess the role of the HPA axis and vagal tonus in the genesis of hypercorticosteronemia and hyperinsulinemia in an adult MSG-obese rat model, bilateral adrenalectomy (ADX) and subdiaphragmatic vagotomy (VAG) alone or combined surgeries (ADX-VAG) were performed. To study glucose-induced insulin secretion (GIIS) and the cholinergic insulinotropic process, pancreatic islets were incubated with different glucose concentrations with or without oxotremorine-M, a selective agonist of the M-3 muscarinic acetylcholine receptor (M(3)AChR) subtype. Protein expression of M(3)AChR in pancreatic islets, corticosteronemia, and vagus nerve activity was also evaluated. Surgeries reduced 80% of the body weight gain. Fasting glucose and insulin were reduced both by ADX and ADX-VAG, whereas VAG was only associated with hyperglycemia. The serum insulin post-glucose stimulation was lower in all animals that underwent an operation. Vagal activity was decreased by 50% in ADX rats. In the highest glucose concentration, both surgeries reduced GIIS by 50%, whereas ADX-VAG decreased by 70%. Additionally, M(3)AChR activity was recovered by the individual surgeries. M(3)AChR protein expression was reduced by ADX. Both the adrenal gland and vagus nerve contribute to the hyperinsulinemia in the MSG model, although adrenal is more crucial as it appears to modulate parasympathetic activity and M(3)AChR expression in obesity. C1 [Miranda, Rosiane A.; da Silva Franco, Claudineia C.; Mathias, Paulo C. F.] Univ Estadual Maringa, Dept Biotechnol Genet & Cell Biol, Maringa, Parana, Brazil. [Miranda, Rosiane A.] Univ Fed Rio de Janeiro, Carlos Chagas Filho Biophys Inst, Rio De Janeiro, Brazil. [Torrezan, Rosana] Univ Estadual Maringa, Dept Physiol Sci, Maringa, Parana, Brazil. [de Oliveira, Julio C.] Univ Fed Mato Grosso, Inst Hlth Sci, Sinop, Brazil. [Barella, Luiz F.] NIDDK, Mol Signalling Sect, Bioorgan Chem Lab, NIH, Bethesda, MD 20892 USA. [Lisboa, Patricia C.; Moura, Egberto G.] Univ Estado Rio De Janeiro, Roberto Alcantara Gomes Biol Inst, Dept Physiol Sci, Rio De Janeiro, Brazil. RP Mathias, PCF (reprint author), Univ Estadual Maringa, Dept Biotechnol Genet & Cell Biol, Maringa, Parana, Brazil. EM pmathias@uem.br FU Brazilian Federal Foundation; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq); Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES) FX This work was supported by the Brazilian Federal Foundation, Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) and Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES). NR 60 TC 1 Z9 1 U1 4 U2 4 PU BIOSCIENTIFICA LTD PI BRISTOL PA EURO HOUSE, 22 APEX COURT WOODLANDS, BRADLEY STOKE, BRISTOL BS32 4JT, ENGLAND SN 0022-0795 EI 1479-6805 J9 J ENDOCRINOL JI J. Endocrinol. PD JUL PY 2016 VL 230 IS 1 BP 27 EP 38 DI 10.1530/JOE-15-0467 PG 12 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DR4OE UT WOS:000379880200008 PM 27113853 ER PT J AU Gill, J Merchant-Borna, K Lee, H Livingston, WS Olivera, A Cashion, A Wang, D Bazarian, JJ AF Gill, Jessica Merchant-Borna, Kian Lee, Hyunhwa Livingston, Whitney S. Olivera, Anlys Cashion, Ann Wang, Dan Bazarian, Jeffrey J. TI Sports-Related Concussion Results in Differential Expression of Nuclear Factor-kappa B Pathway Genes in Peripheral Blood During the Acute and Subacute Periods SO JOURNAL OF HEAD TRAUMA REHABILITATION LA English DT Article DE acute-phase reaction; brain concussion; gene expression; inflammation; sports-related concussion; traumatic brain injury ID TRAUMATIC BRAIN-INJURY; CEREBROSPINAL-FLUID; MICROGLIA ACTIVATION; MICE; CCL2; INTERLEUKIN-6; BIOMARKERS; CHEMOKINES; APOPTOSIS; RELEASE AB Objective: To determine changes in global gene expression in peripheral leukocytes in the acute and subacute periods following a sports-related concussion in athletes. Setting: Samples were collected at 2 universities in Rochester, New York. Participants: Fifteen contact sport athletes who experienced a sports-related concussion, and 16 nonconcussed teammates served as controls. Design: Blood samples were collected at the start of the season (baseline), within 6 hours of injury (acute), and at 7 days (subacute) postinjury. Differential gene expression was measured using the GeneChip 3' in vitro transcription Expression kit and Affymetrix microarrays, and genes with fold difference of 2 or more were identified using Partek. Main Measures: Whole genome differential gene expression, and cognitive and balance measures to asses for clinical symptoms pre- and postinjury. Results: In the concussed athletes, we observed 67 downregulated and 4 upregulated genes in the acute period and 63 downregulated and 2 upregulated genes in the subacute period compared with baseline. Of these, there were 28 genes from both time points involved in the inflammatory response. No significant differences in gene expression were detected in the control group. Conclusions: Our findings suggest that recovery from sports-related concussion relates to modulation of inflammation through cytokine and chemokine gene pathways, which can contribute to future development of personalized therapeutic agents. C1 [Gill, Jessica; Livingston, Whitney S.; Olivera, Anlys; Cashion, Ann; Wang, Dan] NINR, NIH, 1 Cloister Ct,Rm 259, Bethesda, MD 20814 USA. [Lee, Hyunhwa] Univ Nevada, Sch Nursing, Las Vegas, NV 89154 USA. [Merchant-Borna, Kian; Bazarian, Jeffrey J.] Univ Rochester, Rochester, NY USA. RP Livingston, WS (reprint author), NINR, NIH, 1 Cloister Ct,Rm 259, Bethesda, MD 20814 USA. EM whitney.livingston@nih.gov FU NIH/NICHD [K24HD064754]; NIH Intramural Research Program FX This work was supported by funds from the NIH/NICHD (award no. K24HD064754) and the NIH Intramural Research Program. Dr Sijung Yun provided additional review of data analyses methods and results from this study. NR 34 TC 0 Z9 0 U1 5 U2 5 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0885-9701 EI 1550-509X J9 J HEAD TRAUMA REHAB JI J. Head Trauma Rehabil. PD JUL-AUG PY 2016 VL 31 IS 4 BP 269 EP 276 DI 10.1097/HTR.0000000000000191 PG 8 WC Clinical Neurology; Rehabilitation SC Neurosciences & Neurology; Rehabilitation GA DR3FW UT WOS:000379789000012 PM 26479397 ER PT J AU Ozato, K AF Ozato, Keiko TI Introduction to a Special Issue on IFN Regulatory Factors in Innate Immune Responses SO JOURNAL OF INTERFERON AND CYTOKINE RESEARCH LA English DT Editorial Material C1 [Ozato, Keiko] NICHHD, Div Dev Biol, NIH, 6 Ctr Dr, Bethesda, MD 20892 USA. RP Ozato, K (reprint author), NICHHD, Div Dev Biol, NIH, 6 Ctr Dr, Bethesda, MD 20892 USA. EM ozatok@nih.gov NR 0 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1079-9907 EI 1557-7465 J9 J INTERF CYTOK RES JI J. Interferon Cytokine Res. PD JUL PY 2016 VL 36 IS 7 BP 413 EP 413 DI 10.1089/jir.2016.29002.koz PG 1 WC Biochemistry & Molecular Biology; Cell Biology; Immunology SC Biochemistry & Molecular Biology; Cell Biology; Immunology GA DQ8XN UT WOS:000379495100001 PM 27379863 ER PT J AU Bachu, M Dey, A Ozato, K AF Bachu, Mahesh Dey, Anup Ozato, Keiko TI Chromatin Landscape of the IRF Genes and Role of the Epigenetic Reader BRD4 SO JOURNAL OF INTERFERON AND CYTOKINE RESEARCH LA English DT Review ID BROMODOMAIN PROTEIN BRD4; ACUTE MYELOID-LEUKEMIA; SELECTIVE-INHIBITION; DNA METHYLATION; TRANSCRIPTION ELONGATION; REGULATORY FACTOR-8; SUPER-ENHANCERS; BET PROTEIN; P-TEFB; CANCER AB Histone post-translational modification patterns represent epigenetic states of genomic genes and denote the state of their transcription, past history, and future potential in gene expression. Genome-wide chromatin modification patterns reported from various laboratories are assembled in the ENCODE database, providing a fertile ground for understanding epigenetic regulation of any genes of interest across many cell types. The IRF family genes critically control innate immunity as they direct expression and activities of interferons. While these genes have similar structural and functional traits, their chromatin landscapes and epigenetic features have not been systematically evaluated. Here, by mining ENCODE database using an imputational approach, we summarize chromatin modification patterns for 6 of 9 IRF genes and show characteristic features that connote their epigenetic states. BRD4 is a BET bromodomain protein that 'reads and translates" epigenetic marks into transcription. We review recent findings that BRD4 controls constitutive and signal-dependent transcription of many genes, including IRF genes. BRD4 dynamically binds to various genomic genes with a spatial and temporal specificity. Of particular importance, BRD4 is shown to critically regulate IRF-dependent anti-pathogen protection, inflammatory responses triggered by NF-kappa B, and the growth and spread of many cancers. The advent of small molecule inhibitors that disrupt binding of BET bromdomain to acetylated histone marks has opened new therapeutic possibilities for cancer and inflammatory diseases. C1 [Bachu, Mahesh; Dey, Anup; Ozato, Keiko] NICHHD, Div Dev Biol, NIH, 6 Ctr Dr, Bethesda, MD 20892 USA. RP Ozato, K (reprint author), NICHHD, Div Dev Biol, NIH, 6 Ctr Dr, Bethesda, MD 20892 USA. EM ozatok@nih.gov FU NICHD, National Institutes of Health [ZIA HD001310-28] FX The authors thank colleagues in the Ozato Lab and DDB for discussion and critical reading of the article. This work was supported by the intramural program of the NICHD, National Institutes of Health (ZIA HD001310-28). NR 45 TC 0 Z9 0 U1 4 U2 4 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1079-9907 EI 1557-7465 J9 J INTERF CYTOK RES JI J. Interferon Cytokine Res. PD JUL PY 2016 VL 36 IS 7 BP 470 EP 475 DI 10.1089/jir.2015.0179 PG 6 WC Biochemistry & Molecular Biology; Cell Biology; Immunology SC Biochemistry & Molecular Biology; Cell Biology; Immunology GA DQ8XN UT WOS:000379495100007 PM 27379869 ER PT J AU Rider, LG Nistala, K AF Rider, L. G. Nistala, K. TI The juvenile idiopathic inflammatory myopathies: pathogenesis, clinical and autoantibody phenotypes, and outcomes SO JOURNAL OF INTERNAL MEDICINE LA English DT Review DE chemokine; interferon alpha; juvenile dermatomyositis; juvenile polymyositis; myositis autoantibodies; outcomes ID MYOSITIS-SPECIFIC AUTOANTIBODIES; SYSTEMIC-LUPUS-ERYTHEMATOSUS; SIGNAL RECOGNITION PARTICLE; ANTI-HMGCR AUTOANTIBODIES; GENOME-WIDE ASSOCIATION; SKELETAL-MUSCLE LEADS; TUMOR-NECROSIS-FACTOR; MHC CLASS-I; AMYOPATHIC DERMATOMYOSITIS; LABORATORY FEATURES AB The aim of this review was to summarize recent advances in the understanding of the clinical and autoantibody phenotypes, their associated outcomes and the pathogenesis of the juvenile idiopathic inflammatory myopathies (JIIMs). The major clinical and autoantibody phenotypes in children have many features similar to those in adults, and each has distinct demographic and clinical features and associated outcomes. The most common myositis autoantibodies in JIIM patients are anti-p155/140, anti-MJ and anti-MDA5. Higher mortality has been associated with overlap myositis as well as with the presence of anti-synthetase and anti-MDA5 autoantibodies; a chronic illness course and lipodystrophy have been associated with anti-p155/140 autoantibodies; and calcinosis has been associated with anti-MJ autoantibodies. Histologic abnormalities of JIIMs detectable on muscle biopsy have also been correlated with myositis-specific autoantibodies; for example, patients with anti-MDA5 show low levels of inflammatory infiltrate and muscle damage on biopsy. The first genome-wide association study of adult and juvenile dermatomyositis revealed three novel genetic associations, BLK, PLCL1 and CCL21 and confirmed that the human leucocyte antigen region is the primary risk region for juvenile dermatomyositis. Here, we review the well-established pathogenic processes in JIIMs, including the type 1 interferon and endoplasmic reticulum stress pathways. Several novel JIIM-associated inflammatory mediators, such as the innate immune system proteins, myeloid-related peptide 8/14, galectin 9 and eotaxin, have emerged as promising biomarkers of disease. Advances in our understanding of the phenotypes and pathophysiology of the JIIMs are leading to better tools to help clinicians stratify and treat these heterogeneous disorders. styled-content style="text-decoration:underline"styled-content - Read more articles from the symposium: The First International Conference on Myositis. C1 [Rider, L. G.] NIEHS, Environm Autoimmun Grp, Clin Res Branch, NIH, Bethesda, MD USA. [Nistala, K.] UCL, Ctr Rheumatol, London, England. RP Rider, LG (reprint author), NIEHS, Environm Autoimmun Grp, NIH, CRC 4-2352,MSC 1301,10 Ctr Dr, Bethesda, MD 20892 USA. EM riderl@mail.nih.gov OI Rider, Lisa/0000-0002-6912-2458 FU National Institutes of Health, National Institute of Environmental Health Sciences; Cure JM Foundation FX We thank Drs. Hanna Kim and Rodolfo Curiel for critical reading of the manuscript, Shireena Yaseen for assistance with photomicrograph preparation and Drs. Frederick Miller and Lucy Wedderburn for their support of research on the natural history and pathogenesis of juvenile myositis. We thank the UK Juvenile Dermatomyositis Research Group and the Childhood Myositis Heterogeneity Study Group, and the patients who have contributed to the studies conducted by these groups, and the staff of Great Ormond Street Hospital UK and the Environmental Autoimmunity Group. KN is a Wellcome Trust Intermediate Clinical Fellow (reference 097259). This work was supported in part by the intramural research program of the National Institutes of Health, National Institute of Environmental Health Sciences and in part by the Cure JM Foundation. NR 97 TC 3 Z9 3 U1 3 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0954-6820 EI 1365-2796 J9 J INTERN MED JI J. Intern. Med. PD JUL PY 2016 VL 280 IS 1 BP 24 EP 38 DI 10.1111/joim.12444 PG 15 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9GM UT WOS:000379518400003 PM 27028907 ER PT J AU Lundberg, IE Miller, FW Tjarnlund, A Bottai, M AF Lundberg, I. E. Miller, F. W. Tjarnlund, A. Bottai, M. TI Diagnosis and classification of idiopathic inflammatory myopathies SO JOURNAL OF INTERNAL MEDICINE LA English DT Review DE criteria; dermatomyositis; idiopathic inflammatory myopathy; inclusion body myositis; polymyositis ID INCLUSION-BODY MYOSITIS; CYTOSOLIC 5'-NUCLEOTIDASE 1A; POLYMYOSITIS; DERMATOMYOSITIS; AUTOANTIBODIES; PERFORMANCE; SYNTHETASE; MANAGEMENT; CRITERIA; DISEASE AB The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of diseases, collectively termed myositis, sharing symptoms of muscle weakness, fatigue and inflammation. Other organs are frequently involved, supporting the notion that these are systemic inflammatory diseases. The IIMs can be subgrouped into dermatomyositis, polymyositis and inclusion body myositis. The myositis-specific autoantibodies (MSAs) identify other and often more distinct clinical phenotypes, such as the antisynthetase syndrome with antisynthetase autoantibodies and frequent interstitial lung disease and anti-SRP and anti-HMGCR autoantibodies that identify necrotizing myopathy. The MSAs are important both to support myositis diagnosis and to identify subgroups with different patterns of extramuscular organ involvement such as interstitial lung disease. Another cornerstone in the diagnostic procedure is muscle biopsy to identify inflammation and to exclude noninflammatory myopathies. Treatment effect and prognosis vary by subgroup. To develop new and better therapies, validated classification criteria that identify distinct subgroups of myositis are critical. The lack of such criteria was the main rationale for the development of new classification criteria for IIMs, which are summarized in this review; the historical background regarding previous diagnostic and classification criteria is also reviewed. As the IIMs are rare diseases with a prevalence of 10 in 100000 individuals, an international collaboration was essential, as was the interdisciplinary effort including experts in adult and paediatric rheumatology, neurology, dermatology and epidemiology. The new criteria have been developed based on data from more than 1500 patients from 47 centres worldwide and are based on clinically easily available variables. styled-content style="text-decoration:underline"styled-content - Read more articles from the symposium: The First International Conference on Myositis. C1 [Lundberg, I. E.; Tjarnlund, A.] Karolinska Inst, Rheumatol Unit, Dept Med, Karolinska Univ Hosp, Stockholm, Sweden. [Miller, F. W.] NIEHS, NIH, Clin Res Ctr, Bethesda, MD USA. [Bottai, M.] Karolinska Inst, Inst Environm Med, Stockholm, Sweden. RP Lundberg, IE (reprint author), Karolinska Univ Hosp, Rheumatol Unit, SE-17176 Stockholm, Sweden. EM ingrid.lundberg@ki.se OI Miller, Frederick/0000-0003-2831-9593 FU Intramural Research Program of the NIH, National Institute of Environmental Health Sciences FX This research was supported in part by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences. We would like to thank Lisa Maroski for editorial assistance, and Drs. Michael Ward and Andrew Mammen for critical comments on the manuscript. We also want to thank all our collaborators who have contributed to the IMCCP. NR 31 TC 3 Z9 4 U1 6 U2 9 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0954-6820 EI 1365-2796 J9 J INTERN MED JI J. Intern. Med. PD JUL PY 2016 VL 280 IS 1 BP 39 EP 51 DI 10.1111/joim.12524 PG 13 WC Medicine, General & Internal SC General & Internal Medicine GA DQ9GM UT WOS:000379518400004 PM 27320359 ER PT J AU Hotta-Iwamura, C Tarbell, KV AF Hotta-Iwamura, Chie Tarbell, Kristin V. TI Type 1 diabetes genetic susceptibility and dendritic cell function: potential targets for treatment SO JOURNAL OF LEUKOCYTE BIOLOGY LA English DT Review DE tolerance; insulin-dependent diabetes mellitus susceptibility; genetic polymorphism; antigen presentation; innate immunity ID REGULATORY T-CELLS; PERIPHERAL-BLOOD MONOCYTES; ANTIGEN-PRESENTING CELLS; GENOME-WIDE ASSOCIATION; LOW-DOSE INTERLEUKIN-2; NOD MICE; IN-VIVO; VITAMIN-D; AUTOIMMUNE-DISEASE; STEADY-STATE AB Type 1 diabetes is an autoimmune disease that results from the defective induction or maintenance of T cell tolerance against islet beta cell self-antigens. Under steady-state conditions, dendritic cells with tolerogenic properties are critical for peripheral immune tolerance. Tolerogenic dendritic cells can induce T cell anergy and deletion and, in some contexts, induce or expand regulatory T cells. Dendritic cells contribute to both immunomodulatory effects and triggering of pathogenesis in type 1 diabetes. This immune equilibrium is affected by both genetic and environmental factors that contribute to the development of type 1 diabetes. Genome-wide association studies and disease association studies have identified >50 polymorphic loci that lend susceptibility or resistance to insulin-dependent diabetes mellitus. In parallel, diabetes susceptibility regions known as insulin-dependent diabetes loci have been identified in the nonobese diabetic mouse, a model for human type 1 diabetes, providing a better understanding of potential immunomodulatory factors in type 1 diabetes risk. Most genetic candidates have annotated immune cell functions, but the focus has been on changes to T and B cells. However, it is likely that some of the genomic susceptibility in type 1 diabetes directly interrupts the tolerogenic potential of dendritic cells in the pathogenic context of ongoing autoimmunity. Here, we will review how gene polymorphisms associated with autoimmune diabetes may influence dendritic cell development and maturation processes that could lead to alterations in the tolerogenic function of dendritic cells. These insights into potential tolerogenic and pathogenic roles for dendritic cells have practical implications for the clinical manipulation of dendritic cells toward tolerance to prevent and treat type 1 diabetes. C1 [Hotta-Iwamura, Chie; Tarbell, Kristin V.] NIDDK, Immune Tolerance Sect, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA. RP Tarbell, KV (reprint author), NIDDK, Diabet Endocrinol & Obes Branch, NIH, Bldg 10,CRC 5-5940,10 Ctr Dr, Bethesda, MD 20892 USA. EM tarbellk@niddk.nih.gov FU U.S. National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases Division of Intramural Research FX This work was supported by the U.S. National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases Division of Intramural Research. We would like to thank Drs. Jeffrey Price, Jubayer Rahman, and William Coley for critical reading of this manuscript, and the ImmGen consortium for providing gene expression data. NR 193 TC 1 Z9 1 U1 5 U2 9 PU FEDERATION AMER SOC EXP BIOL PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA SN 0741-5400 EI 1938-3673 J9 J LEUKOCYTE BIOL JI J. Leukoc. Biol. PD JUL PY 2016 VL 100 IS 1 BP 65 EP 80 DI 10.1189/jlb.3MR1115-500R PG 16 WC Cell Biology; Hematology; Immunology SC Cell Biology; Hematology; Immunology GA DR2MI UT WOS:000379738200008 PM 26792821 ER PT J AU Hayakawa, K Formica, AM Colombo, MJ Shinton, SA Brill-Dashoff, J Morse, HC Li, YS Hardy, RR AF Hayakawa, K. Formica, A. M. Colombo, M. J. Shinton, S. A. Brill-Dashoff, J. Morse, H. C., III Li, Y-S Hardy, R. R. TI Loss of a chromosomal region with synteny to human 13q14 occurs in mouse chronic lymphocytic leukemia that originates from early-generated B-1 B cells SO LEUKEMIA LA English DT Article ID NONMUSCLE MYOSIN-II; HEAVY-CHAIN IIA; BONE-MARROW; REGULATED EXPRESSION; POSITIVE SELECTION; GENES; REPERTOIRE; ANTIBODIES; LYMPHOPOIESIS; PROGENITORS AB A common feature of B-cell chronic lymphocytic leukemia (CLL) is chromosomal loss of 13q14, containing the miR15a/16-1 locus controlling B-cell proliferation. However, CLL etiology remains unclear. CLL is an adult leukemia with an incidence that increases with advancing age. A unique feature of CLL is biased B-cell antigen receptor (BCR) usage, autoreactivity with polyreactivity and CD5 expression, all suggest a role for the BCR in driving CLL pathogenesis. Among human CLLs, BCRs autoreactive with non-muscle myosin IIA (AMyIIA) are recurrent. Here we identify an unmutated AMyIIA BCR in mouse, with distinctive CDR3 segments capable of promoting leukemogenesis. B cells with this AMyIIA BCR are generated by BCR-dependent signaling during B-1 fetal/neonatal development with CD5 induction, but not in adults. These early-generated AMyIIA B-1 B cells self-renew, increase during aging and can progress to become monoclonal B-cell lymphocytosis, followed by aggressive CLL in aged mice, often with the loss of a chromosomal region containing the miR15a/16-1 locus of varying length, as in human CLL. Thus, the ability to generate this defined autoreactive BCR by B-1 B cells is a key predisposing step in mice, promoting progression to chronic leukemia. C1 [Hayakawa, K.; Formica, A. M.; Colombo, M. J.; Shinton, S. A.; Brill-Dashoff, J.; Li, Y-S; Hardy, R. R.] Fox Chase Canc Ctr, Inst Canc Res, 333 Cottman Ave, Philadelphia, PA 19111 USA. [Morse, H. C., III] NIAID, Immunogenet Lab, NIH, Rockville, MD 20852 USA. RP Hayakawa, K (reprint author), Fox Chase Canc Ctr, Inst Canc Res, 333 Cottman Ave, Philadelphia, PA 19111 USA. EM Kyoko.Hayakawa@fccc.edu FU National Institutes of Health (NIH) [RO1 CA129330, R01 AI049335, RO1 AI026782, RC1 CA145445]; Fox Chase Cancer Center Blood Cell Development and Cancer Keystone program; Intramural Research Program of the NIH, NIAID; NIH T32 training grant FX We thank Carlo M. Croce for providing hTCL1 transgenic mice and Y. Nakao for analysis of tumor-bearing mice. Also, we acknowledge several Fox Chase Cancer Center shared facilities for technical support, flow cytometry, DNA sequencing, cell culture, transgenic mouse, laboratory animals and genomics, including J. Pei for CGH. We thank T. Manser and K. Campbell for discussion and comments. This work was supported by the National Institutes of Health (NIH) RO1 CA129330 (KH), R01 AI049335 (KH), RO1 AI026782 (RRH), RC1 CA145445 (RRH and KH), NIH T32 training grant (MJC), and the Fox Chase Cancer Center Blood Cell Development and Cancer Keystone program, and in part by the Intramural Research Program of the NIH, NIAID. NR 60 TC 1 Z9 1 U1 1 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0887-6924 EI 1476-5551 J9 LEUKEMIA JI Leukemia PD JUL PY 2016 VL 30 IS 7 BP 1510 EP 1519 DI 10.1038/leu.2016.61 PG 10 WC Oncology; Hematology SC Oncology; Hematology GA DQ9BC UT WOS:000379504400008 PM 27055869 ER PT J AU Yu, C Yang, YY Wang, XR Guan, SH Fang, L Liu, F Walters, KJ Kaiser, P Huang, L AF Yu, Clinton Yang, Yingying Wang, Xiaorong Guan, Shenheng Fang, Lei Liu, Fen Walters, Kylie J. Kaiser, Peter Huang, Lan TI Characterization of Dynamic UbR-Proteasome Subcomplexes by In vivo Cross-linking (X) Assisted Bimolecular Tandem Affinity Purification (XBAP) and Label-free Quantitation SO MOLECULAR & CELLULAR PROTEOMICS LA English DT Article ID PROTEIN-INTERACTION NETWORK; 26 S PROTEASOME; UBIQUITIN RECEPTOR RPN13; SACCHAROMYCES-CEREVISIAE; DEUBIQUITINATING ENZYME; MASS-SPECTROMETRY; 20S PROTEASOME; MOLECULAR ARCHITECTURE; SUBSTRATE DEGRADATION; REGULATORY PARTICLE AB Proteasomes are protein degradation machines that exist in cells as heterogeneous and dynamic populations. A group of proteins function as ubiquitin receptors (UbRs) that can recognize and deliver ubiquitinated substrates to proteasome complexes for degradation. Defining composition of proteasome complexes engaged with UbRs is critical to understand proteasome function. However, because of the dynamic nature of UbR interactions with the proteasome, it remains technically challenging to capture and isolate UbR-proteasome subcomplexes using conventional purification strategies. As a result, distinguishing the molecular differences among these subcomplexes remains elusive. We have developed a novel affinity purification strategy, in vivo cross-linking (X) assisted bimolecular tandem affinity purification strategy (XBAP), to effectively isolate dynamic UbR-proteasome subcomplexes and define their subunit compositions using label-free quantitative mass spectrometry. In this work, we have analyzed seven distinctive UbR-proteasome complexes and found that all of them contain the same type of the 26S holocomplex. However, selected UbRs interact with a group of proteasome interacting proteins that may link each UbR to specific cellular pathways. The compositional similarities and differences among the seven UbRproteasome subcomplexes have provided new insights on functional entities of proteasomal degradation machineries. The strategy described here represents a general and useful proteomic tool for isolating and studying dynamic and heterogeneous protein subcomplexes in cells that have not been fully characterized. C1 [Yu, Clinton; Yang, Yingying; Wang, Xiaorong; Fang, Lei; Huang, Lan] Univ Calif Irvine, Dept Physiol & Biophys, Irvine, CA 92697 USA. [Guan, Shenheng] Univ Calif San Francisco, Dept Pharmaceut Chem, San Francisco, CA 94143 USA. [Liu, Fen; Walters, Kylie J.] NCI, Prot Proc Sect, Struct Biophys Lab, Ctr Canc Res, Frederick, MD 21702 USA. [Kaiser, Peter] Univ Calif Irvine, Dept Biol Chem, Irvine, CA 92697 USA. RP Huang, L (reprint author), Univ Calif Irvine, Med Sci 1, Dept Physiol & Biophys, D233, Irvine, CA 92697 USA. EM lanhuang@uci.edu FU National Institutes of Health [RO1GM074830, R01GM106003, R01GM066164, R01GM066164-S1]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research FX This work was supported by National Institutes of Health grants RO1GM074830 to L.H, R01GM106003 to L.H. and S.R., R01GM066164 and R01GM066164-S1 to P.K., and by Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research to K.J.W. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 91 TC 3 Z9 3 U1 11 U2 19 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 1535-9476 EI 1535-9484 J9 MOL CELL PROTEOMICS JI Mol. Cell. Proteomics PD JUL PY 2016 VL 15 IS 7 BP 2279 EP 2292 DI 10.1074/mcp.M116.058271 PG 14 WC Biochemical Research Methods SC Biochemistry & Molecular Biology GA DQ9SS UT WOS:000379550200007 PM 27114451 ER PT J AU Floyd, JS Brody, JA Tiniakou, E Psaty, BM Mammen, A AF Floyd, James S. Brody, Jennifer A. Tiniakou, Eleni Psaty, Bruce M. Mammen, Andrew TI Absence of anti-HMG-CoA reductase autoantibodies in severe self-limited statin-related myopathy SO MUSCLE & NERVE LA English DT Article DE adverse drug reaction; autoimmune; myopathy; rhabdomyolysis; statins ID AUTOIMMUNE MYOPATHY; ANTI-3-HYDROXY-3-METHYLGLUTARYL-COENZYME; RHABDOMYOLYSIS; USERS AB Introduction: Patients with self-limited statin-related myopathy improve spontaneously when statins are stopped. In contrast, patients with statin-associated autoimmune myopathy have autoantibodies recognizing 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) and usually require immunosuppressive therapy to control their disease. On initial presentation, it can sometimes be difficult to distinguish between these 2 diseases, as both present with muscle pain, weakness, and elevated serum creatine kinase (CK) levels. The goal of this study was to determine whether patients with severe self-limited statin-related myopathy also make anti-HMGCR autoantibodies. Methods: We screened 101 subjects with severe self-limited cerivastatin-related myopathy for anti-HMGCR autoantibodies. Results: No patient with severe self-limited cerivastatin-related myopathy had anti-HMGCR autoantibodies. Conclusion: Anti-HMGCR autoantibody testing can be used to help differentiate whether a patient has self-limited myopathy due to cerivastatin or autoimmune statin-associated myopathy; these findings may apply to other statins as well. Muscle Nerve54: 142-144, 2016 C1 [Floyd, James S.; Brody, Jennifer A.; Psaty, Bruce M.] Univ Washington, Dept Med, Seattle, WA USA. [Tiniakou, Eleni; Mammen, Andrew] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA. [Psaty, Bruce M.] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA. [Psaty, Bruce M.] Univ Washington, Hlth Serv, Seattle, WA 98195 USA. [Mammen, Andrew] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Mammen, A (reprint author), NIAMSD, Muscle Dis Unit, Lab Muscle Stem Cells & Gene Express, NIH, 50 South Dr,Room 1146,Bldg 50,MSC 8024, Bethesda, MD 20892 USA. EM andrew.mammen@nih.gov RI Floyd, James/G-7563-2015 FU National Heart, Lung, and Blood Institute [HL078888, HL085251]; Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health; National Institutes of Health [T32-AR-048522]; National Heart, Lung and Blood Institute [K08HL116640] FX This research was supported by grants from the National Heart, Lung, and Blood Institute (HL078888 and HL085251). A.L.M. is supported by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health. E.T. is supported by a grant from the National Institutes of Health (T32-AR-048522). J.S.F. is supported by a grant from the National Heart, Lung and Blood Institute (K08HL116640). NR 9 TC 1 Z9 1 U1 0 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0148-639X EI 1097-4598 J9 MUSCLE NERVE JI Muscle Nerve PD JUL PY 2016 VL 54 IS 1 BP 142 EP 144 DI 10.1002/mus.25127 PG 3 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA DQ2HP UT WOS:000379023700021 PM 27038110 ER PT J AU Reddy, UM AF Reddy, Uma M. TI Screening, Prevention, and Treatment of Opioid Use Disorder During Pregnancy Expectant Mothers Are Depending on You! SO OBSTETRICS AND GYNECOLOGY LA English DT Editorial Material ID NEONATAL ABSTINENCE SYNDROME; INCREASING INCIDENCE; UNITED-STATES C1 [Reddy, Uma M.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD 20892 USA. RP Reddy, UM (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD 20892 USA. EM reddyu@mail.nih.gov NR 6 TC 0 Z9 0 U1 3 U2 3 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0029-7844 J9 OBSTET GYNECOL JI Obstet. Gynecol. PD JUL PY 2016 VL 128 IS 1 BP 1 EP 3 PG 3 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA DQ9DE UT WOS:000379509800001 PM 27275810 ER PT J AU Kim, SS Zhu, YY Grantz, KL Hinkle, SN Chen, Z Wallace, ME Smarr, MM Epps, NM Mendola, P AF Kim, Sung Soo Zhu, Yeyi Grantz, Katherine L. Hinkle, Stefanie N. Chen, Zhen Wallace, Maeve E. Smarr, Melissa M. Epps, Nikira M. Mendola, Pauline TI Obstetric and Neonatal Risks Among Obese Women Without Chronic Disease SO OBSTETRICS AND GYNECOLOGY LA English DT Article ID BODY-MASS INDEX; MATERNAL OBESITY; METABOLICALLY HEALTHY; OVERWEIGHT; PREGNANCY; MORTALITY; DELIVERY; OUTCOMES; WEIGHT; METAANALYSIS AB OBJECTIVE: To investigate whether prepregnancy obesity is associated with adverse pregnancy outcomes among women without chronic disease. METHODS: Singleton deliveries (N=112,309) among mothers without chronic diseases in the Consortium on Safe Labor, a retrospective U.S. cohort, were analyzed using Poisson regression with robust variance estimation. Relative risks and 95% confidence intervals (CIs) estimated perinatal risks in relation to prepregnancy obesity status adjusted for age, race-ethnicity, parity, insurance, smoking and alcohol use during pregnancy, and study site. RESULTS: Obstetric risks were variably (and mostly marginally) increased as body mass index (BMI) category and obesity class increased. In particular, the risk of gestational hypertensive disorders, gestational diabetes, cesarean delivery, and induction increased in a dose-response fashion. For example, the percentage of gestational diabetes among obese class III women was 14.6% in contrast to 2.8% among women with normal BMIs (corresponding relative risks [95% CI] 1.99 [1.86-2.13], 2.94 [2.73-3.18], 3.97 [3.61-4.36], and 5.47 [4.96-6.04] for overweight, obese class I, obese class II, and obese class III women, respectively) compared with women with normal BMIs. Similarly, neonatal risks increased in a dose-response fashion with maternal BMI status including preterm birth at less than 32 weeks of gestation, large for gestational age (LGA), transient tachypnea, sepsis, and intensive care unit admission. The percentage of LGA neonates increased from 7.9% among women with normal BMIs to 17.3% among obese class III women and relative risks increased to 1.52 (1.45-1.58), 1.74 (1.65-1.83), 1.93 (1.79-2.07), and 2.32 (2.14-2.52) as BMI category increased. CONCLUSION: Prepregnancy obesity is associated with increased risks of a wide range of adverse pregnancy and neonatal outcomes among women without chronic diseases. C1 [Mendola, Pauline] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Epidemiol Branch, 6100 Execut Blvd,Room 7B03F, Rockville, MD 20852 USA. Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Biostat & Bioinformat Branch, 6100 Execut Blvd,Room 7B03F, Rockville, MD 20852 USA. RP Mendola, P (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Epidemiol Branch, 6100 Execut Blvd,Room 7B03F, Rockville, MD 20852 USA. EM pauline.mendola@nih.gov OI Hinkle, Stefanie/0000-0003-4312-708X; Mendola, Pauline/0000-0001-5330-2844; Grantz, Katherine/0000-0003-0276-8534 FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health; Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development [HHSN267200603425C] FX Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health. The Consortium on Safe Labor was funded by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development through Contract No. HHSN267200603425C. NR 29 TC 3 Z9 3 U1 2 U2 4 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0029-7844 J9 OBSTET GYNECOL JI Obstet. Gynecol. PD JUL PY 2016 VL 128 IS 1 BP 104 EP 112 DI 10.1097/AOG.0000000000001465 PG 9 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA DQ9DE UT WOS:000379509800015 PM 27275800 ER PT J AU Agwu, AL Yao, TJ Eshleman, SH Patel, K Huang, W Burchett, SK Siberry, GK Van Dyke, RB AF Agwu, Allison L. Yao, Tzy-Jyun Eshleman, Susan H. Patel, Kunjal Huang, Wei Burchett, Sandra K. Siberry, George K. Van Dyke, Russell B. CA Pediatric HIV AIDS Cohort Study TI Phenotypic Coreceptor Tropism in Perinatally HIV-infected Youth Failing Antiretroviral Therapy SO PEDIATRIC INFECTIOUS DISEASE JOURNAL LA English DT Article DE CCR5; coreceptor tropism; perinatally HIV-infected; adolescents; youth ID DRUG-RESISTANCE; CLINICAL MANAGEMENT; DISEASE PROGRESSION; VIROLOGICAL FAILURE; CHILDREN; ADOLESCENTS; COHORT; PREVALENCE; OUTCOMES; AIDS AB Background: Perinatally HIV-infected (PHIV) children and youth are often heavily treatment-experienced, with resultant antiretroviral resistance and limited treatment options. For those with virologic failure (VF), new agents such as CCR5 (R5) antagonists may be useful; however, reports of R5 antagonist susceptibility in children have mostly relied on genotypic testing, which may not accurately reflect the phenotypic tropism of the viral populations. We characterized phenotypic coreceptor usage among PHIV children and youth with VF on antiretroviral treatment to identify predictors of CXCR4 (X4) tropism which preclude R5 antagonist use. Methods: Plasma samples with >1000 HIV RNA copies/mL were obtained from 73 PHIV antiretroviral treatment-treated children and youth (age 9-21 years) enrolled in the multicenter Pediatric HIV/AIDS Cohort Study. Samples were analyzed using the Trofile phenotypic assay. Multiple logistic regression was performed to identify factors associated with detectable X4 tropism. Results: Tropism results were obtained for 59 (81%) of the 73 children and youth; 32 (54%) had X4-tropism. Persistent viremia (>= 80% of HIV RNA measurements >400 copies/mL) was associated with detectable X4 tropism (adjusted odds ratio: 6.6, 95% confidence interval: 1.4, 31.4), while longer cumulative nucleoside reverse transcriptase inhibitor use was associated with lower risk of X4 tropism (adjusted odds ratio: 0.6, 95% confidence interval: 0.5, 0.9). Conclusions: Using a phenotypic assay, >50% of PHIV children and youth with VF had X4 tropism, similar to that in experienced adults, and higher than the 30% reported for children using genotypic assays. Persistent viremia and shorter nucleoside reverse transcriptase inhibitor exposure are associated with X4-tropism in children and youth and may help target phenotypic testing to those most likely to benefit from R5 antagonist. C1 [Agwu, Allison L.] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Pediat Infect Dis, Baltimore, MD 21205 USA. [Agwu, Allison L.] Johns Hopkins Univ, Sch Med, Dept Med, Div Infect Dis, Baltimore, MD 21205 USA. [Yao, Tzy-Jyun; Patel, Kunjal] Harvard Sch Publ Hlth, Ctr Biostat AIDS Res CBAR, Boston, MA USA. [Eshleman, Susan H.] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA. [Huang, Wei] Monogram Biosci, San Francisco, CA USA. [Burchett, Sandra K.] Boston Childrens Hosp, Boston, MA USA. [Burchett, Sandra K.] Harvard Med Sch, Boston, MA USA. [Siberry, George K.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Maternal & Pediat Infect Dis Branch, Bethesda, MD USA. [Van Dyke, Russell B.] Tulane Univ, Sch Med, Dept Pediat, Infect Dis Sect, New Orleans, LA 70112 USA. RP Agwu, AL (reprint author), 200 N Wolfe St,Room 3145, Baltimore, MD 21287 USA. EM ageorg10@jhmi.edu FU National Institutes of Allergy and Infectious Diseases [1K23 AI084549]; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institute of Allergy and Infectious Diseases; Office of AIDS Research; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; National Heart, Lung and Blood Institute; National Institute of Dental and Craniofacial Research; National Institute on Alcohol Abuse and Alcoholism [HD052102, 3 U01HD052102-05S1, 3 U01 HD052102-06S3, HD052104, 3U01 HD052104-06S1] FX Dr. Agwu was supported by the National Institutes of Allergy and Infectious Diseases (1K23 AI084549). PHACS was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development with co-funding from the National Institute on Drug Abuse; the National Institute of Allergy and Infectious Diseases; the Office of AIDS Research; the National Institute of Mental Health; the National Institute of Neurological Disorders and Stroke; the National Institute on Deafness and Other Communication Disorders; the National Heart, Lung and Blood Institute; the National Institute of Dental and Craniofacial Research and the National Institute on Alcohol Abuse and Alcoholism, through cooperative agreements with the Harvard University School of Public Health (HD052102, 3 U01HD052102-05S1, 3 U01 HD052102-06S3; principal investigator, George Seage; project director: Julie Alperen) and the Tulane University School of Medicine (HD052104, 3U01 HD052104-06S1; principal investigator, Russell Van Dyke; co-principal investigator, Kenneth Rich; project director, Patrick Davis). The conclusions and opinions expressed in this article are those of the authors and do not necessarily reflect those of the sponsoring agencies. Data management services were provided by Frontier Science and Technology Research Foundation (PI: Suzanne Siminski), and regulatory services and logistical support were provided by Westat, Inc (PI: Julie Davidson). The authors have no conflicts of interest to disclose. NR 24 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0891-3668 EI 1532-0987 J9 PEDIATR INFECT DIS J JI Pediatr. Infect. Dis. J. PD JUL PY 2016 VL 35 IS 7 BP 777 EP 781 DI 10.1097/INF.0000000000001158 PG 5 WC Immunology; Infectious Diseases; Pediatrics SC Immunology; Infectious Diseases; Pediatrics GA DQ6VY UT WOS:000379344800017 PM 27078121 ER PT J AU Fletcher, PL Fletcher, MD Weninger, KR Martin, BM AF Fletcher, Paul L., Jr. Fletcher, Maryann D. Weninger, Keith R. Martin, Brian M. TI VENOMS FROM CENTRUROIDES SP. SCORPIONS CLEAVE SNARE PROTEINS SO TOXICON LA English DT Meeting Abstract CT 5th Venom Week / International Scientific Symposium of the International-Society-on-Toxinology CY MAR 09-12, 2016 CL E Carolina Univ, Greenville, NC SP Int Soc Toxinol HO E Carolina Univ DE Azantarease; Antarease; SNARE-cleaving metalloprotease; scorpion venom C1 [Fletcher, Paul L., Jr.; Fletcher, Maryann D.] East Carolina Univ, Greenville, NC 27858 USA. [Weninger, Keith R.] Npoth Carolina State Univ, Raleigh, NC 27695 USA. [Martin, Brian M.] NIH, Bldg 10, Bethesda, MD 20892 USA. EM fletcherpa@ecu.edu NR 0 TC 0 Z9 0 U1 0 U2 0 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0041-0101 J9 TOXICON JI Toxicon PD JUL PY 2016 VL 117 BP 111 EP 111 PG 1 WC Pharmacology & Pharmacy; Toxicology SC Pharmacology & Pharmacy; Toxicology GA DQ7FX UT WOS:000379373400038 ER PT J AU Zuehlke, AD Neckers, L AF Zuehlke, Abbey D. Neckers, Len TI Clients Place Unique Functional Constraints on Hsp90 SO TRENDS IN BIOCHEMICAL SCIENCES LA English DT Editorial Material ID MOLECULAR CHAPERONE; BINDING AB Heat shock protein 90 kDa (Hsp90) is required for the activation and stabilization of numerous client proteins, but the functional requirements of individual clients remain poorly understood. Utilizing yeast growth assays and mutational analysis, Mishra and colleagues explore the constraints placed on Hsp90 by distinct clients and the relationship between these constraints and overall yeast fitness. C1 [Zuehlke, Abbey D.; Neckers, Len] NCI, Urol Oncol Branch, Ctr Canc Res, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Neckers, L (reprint author), NCI, Urol Oncol Branch, Ctr Canc Res, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM neckers@nlh.gov FU Intramural NIH HHS [Z01 SC010074-12]; NCI NIH HHS [Z01 BC011032-01] NR 6 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE LONDON PI LONDON PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND SN 0968-0004 J9 TRENDS BIOCHEM SCI JI Trends Biochem.Sci. PD JUL PY 2016 VL 41 IS 7 BP 562 EP 564 DI 10.1016/j.tibs.2016.05.011 PG 3 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DR1AK UT WOS:000379638100002 PM 27297784 ER PT J AU Feng, ZW Pearce, LV Zhang, Y Xing, CR Herold, BKA Ma, SF Hu, ZH Turcios, NA Yang, P Tong, Q McCall, AK Blumberg, PM Xie, XQ AF Feng, Zhiwei Pearce, Larry V. Zhang, Yu Xing, Changrui Herold, Brienna K. A. Ma, Shifan Hu, Ziheng Turcios, Noe A. Yang, Peng Tong, Qin McCall, Anna K. Blumberg, Peter M. Xie, Xiang-Qun TI Multi-Functional Diarylurea Small Molecule Inhibitors of TRPV1 with Therapeutic Potential for Neuroinflammation SO AAPS JOURNAL LA English DT Article DE multi-targets; neuroinflammation; pain; synergistic effect; TRPV1 ID CB2 RECEPTOR; ALZHEIMERS-DISEASE; BIOLOGICAL EVALUATION; NEURODEGENERATIVE DISEASES; OSTEOCLAST INHIBITORS; DYNAMICS SIMULATION; LIGAND RECOGNITION; PARKINSONS-DISEASE; GABA(C) RECEPTORS; INVERSE AGONISTS AB Transient receptor potential vanilloid type 1 (TRPV1), a heat-sensitive calcium channel protein, contributes to inflammation as well as to acute and persistent pain. Since TRPV1 occupies a central position in pathways of neuronal inflammatory signaling, it represents a highly attractive potential therapeutic target for neuroinflammation. In the present work, we have in silico identified a series of diarylurea analogues for hTRPV1, of which 11 compounds showed activity in the nanomolar to micromolar range as validated by in vitro biological assays. Then, we utilized molecular docking to explore the detailed interactions between TRPV1 and the compounds to understand the contributions of the different substituent groups. Tyr511, Leu518, Leu547, Thr550, Asn551, Arg557, and Leu670 were important for the recognition of the small molecules by TRPV1. A hydrophobic group in R2 or a polar/hydrophilic group in R1 contributed significantly to the activities of the antagonists at TRPV1. In addition, the subtle different binding pose of meta-chloro in place of para-fluoro in the R2 group converted antagonism into partial agonism, as was predicted by our short-term molecular dynamics (MD) simulation and validated by bioassay. Importantly, compound 15, one of our best TRPV1 inhibitors, also showed potential binding affinity (1.39 mu M) at cannabinoid receptor 2 (CB2), which is another attractive target for immuno-inflammation diseases. Furthermore, compound 1 and its diarylurea analogues were predicted to target the C-X-C chemokine receptor 2 (CXCR2), although bioassay validation of CXCR2 with these compounds still needs to be performed. This prediction from the modeling is of interest, since CXCR2 is also a potential therapeutic target for chronic inflammatory diseases. Our findings provide novel strategies to develop a small molecule inhibitor to simultaneously target two or more inflammation-related proteins for the treatment of a wide range of inflammatory disorders including neuroinflammation and neurodegenerative diseases with potential synergistic effect. C1 [Feng, Zhiwei; Zhang, Yu; Xing, Changrui; Ma, Shifan; Hu, Ziheng; Yang, Peng; Tong, Qin; Xie, Xiang-Qun] Univ Pittsburgh, Dept Pharmaceut Sci, Pittsburgh, PA 15261 USA. [Feng, Zhiwei; Zhang, Yu; Xing, Changrui; Ma, Shifan; Hu, Ziheng; Yang, Peng; Tong, Qin; Xie, Xiang-Qun] Univ Pittsburgh, Computat Chem Genom Screening Ctr, Sch Pharm, Pittsburgh, PA 15261 USA. [Feng, Zhiwei; Zhang, Yu; Xing, Changrui; Ma, Shifan; Hu, Ziheng; Yang, Peng; Tong, Qin; Xie, Xiang-Qun] Univ Pittsburgh, NIDA Natl Ctr Excellence Computat Drug Abuse Res, Pittsburgh, PA 15261 USA. [Feng, Zhiwei; Zhang, Yu; Xing, Changrui; Ma, Shifan; Hu, Ziheng; Yang, Peng; Tong, Qin; Xie, Xiang-Qun] Univ Pittsburgh, Drug Discovery Inst, Pittsburgh, PA 15261 USA. [Xie, Xiang-Qun] Univ Pittsburgh, Dept Computat Biol, Pittsburgh, PA 15261 USA. [Xie, Xiang-Qun] Univ Pittsburgh, Dept Biol Struct, Pittsburgh, PA 15261 USA. [Pearce, Larry V.; Herold, Brienna K. A.; Turcios, Noe A.; McCall, Anna K.; Blumberg, Peter M.] NCI, Lab Canc Biol & Genet, Bethesda, MD 20892 USA. [Blumberg, Peter M.] NIH, Lab Canc Biol & Genet, Bldg 37,Room 4048B,37 Convent Dr MSC 4255, Bethesda, MD 20892 USA. RP Xie, XQ (reprint author), Univ Pittsburgh, Dept Pharmaceut Sci, Pittsburgh, PA 15261 USA.; Xie, XQ (reprint author), Univ Pittsburgh, Computat Chem Genom Screening Ctr, Sch Pharm, Pittsburgh, PA 15261 USA.; Xie, XQ (reprint author), Univ Pittsburgh, NIDA Natl Ctr Excellence Computat Drug Abuse Res, Pittsburgh, PA 15261 USA.; Xie, XQ (reprint author), Univ Pittsburgh, Drug Discovery Inst, Pittsburgh, PA 15261 USA.; Xie, XQ (reprint author), Univ Pittsburgh, Dept Computat Biol, Pittsburgh, PA 15261 USA.; Xie, XQ (reprint author), Univ Pittsburgh, Dept Biol Struct, Pittsburgh, PA 15261 USA.; Blumberg, PM (reprint author), NCI, Lab Canc Biol & Genet, Bethesda, MD 20892 USA.; Blumberg, PM (reprint author), NIH, Lab Canc Biol & Genet, Bldg 37,Room 4048B,37 Convent Dr MSC 4255, Bethesda, MD 20892 USA. EM blumberp@dc37a.nci.nih.gov; xix15@pitt.edu FU NIH [R01 DA025612]; NIDA [P30 DA035778A1]; Intramural Program of the Center for Cancer Research, National Cancer Institute, NIH [Z1A BC 005270] FX The project is supported by funding to the Xie Laboratory from the NIH, NIDA (P30 DA035778A1) and NIH (R01 DA025612), and in part by the Intramural Program of the Center for Cancer Research, National Cancer Institute, NIH (Project Z1A BC 005270). NR 65 TC 0 Z9 0 U1 2 U2 4 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1550-7416 J9 AAPS J JI AAPS J. PD JUL PY 2016 VL 18 IS 4 BP 898 EP 913 DI 10.1208/s12248-016-9888-z PG 16 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA DQ2NU UT WOS:000379040000012 PM 27000851 ER PT J AU Kenna, GA Haass-Koffler, CL Zywiak, WH Edwards, SM Brickley, MB Swift, RM Leggio, L AF Kenna, George A. Haass-Koffler, Carolina L. Zywiak, William H. Edwards, Steven M. Brickley, Michael B. Swift, Robert M. Leggio, Lorenzo TI Role of the (1) blocker doxazosin in alcoholism: a proof-of-concept randomized controlled trial SO ADDICTION BIOLOGY LA English DT Article DE Alcoholism; clinical trial; craving; doxazosin; family history density of alcoholism; alpha(1)-blockade ID PREFERRING P RATS; FAMILY-HISTORY; ALPHA-1-ADRENERGIC ANTAGONIST; DEPENDENT INDIVIDUALS; ETHANOL-CONSUMPTION; RECEPTOR ANTAGONIST; CLINICAL-TRIALS; HEAVY DRINKING; STRESS; PRAZOSIN AB Evidence suggests that the norepinephrine system represents an important treatment target for alcohol dependence (AD) and the (1)-blocker prazosin may reduce alcohol drinking in rodents and alcoholic patients. The (1)-blocker doxazosin demonstrates a more favorable pharmacokinetic profile than prazosin, but has never been studied for AD. A double-blind placebo-controlled randomized clinical trial was conducted in AD individuals seeking outpatient treatment. Doxazosin or matched placebo was titrated to 16mg/day (or maximum tolerable dose). Drinks per week (DPW) and heavy drinking days (HDD) per week were the primary outcomes. Family history density of alcoholism (FHDA), severity of AD and gender were a priori moderators. Forty-one AD individuals were randomized, 30 (doxazosin=15) completed the treatment phase and 28 (doxazosin=14) also completed the follow-up. There were no significant differences between groups on DPW and HDD per week. With FHDA as a moderator, there were significant FHDAxmedication interactions for both DPW (p(corrected)=0.001, d=1.18) and HDD (p(corrected)=0.00009, d=1.30). Post hoc analyses revealed that doxazosin significantly reduced alcohol drinking in AD patients with highFHDA and by contrast increased drinking in those with lowFHDA. Doxazosin may be effective selectively in AD patients with highFHDA. This study provides preliminary evidence for personalized medicine using (1)-blockade to treat AD. However, confirmatory studies are required. C1 [Kenna, George A.; Zywiak, William H.; Swift, Robert M.] Brown Univ, Dept Psychiat & Human Behav, Ctr Alcohol & Addict Studies, Providence, RI 02912 USA. [Haass-Koffler, Carolina L.; Brickley, Michael B.; Leggio, Lorenzo] Brown Univ, Ctr Alcohol & Addict Studies, Dept Behav & Social Sci, Providence, RI 02912 USA. [Haass-Koffler, Carolina L.; Leggio, Lorenzo] NIAAA, Sect Clin Psychoneuroendocrinol & Neuropsychophar, NIDA, NIH, 10 Ctr Dr 10CRC-15330 MSC 1108,Room 1-5429, Bethesda, MD 20892 USA. [Zywiak, William H.] PIRE, Decis Sci Inst, Pawtucket, RI USA. [Edwards, Steven M.] Univ Nebraska Lincoln, Dept Psychol, Lincoln, NE USA. [Swift, Robert M.] Vet Affairs Med Ctr, Providence, RI USA. RP Leggio, L (reprint author), NIAAA, Sect Clin Psychoneuroendocrinol & Neuropsychophar, NIDA, NIH, 10 Ctr Dr 10CRC-15330 MSC 1108,Room 1-5429, Bethesda, MD 20892 USA. EM lorenzo.leggio@nih.gov RI Leggio, Lorenzo/M-2972-2016 FU National Institute on Alcohol Abuse and Alcoholism (NIAAA) [R21AA019994]; NIAAA Division of Intramural Clinical and Biological Research; National Institute on Drug Abuse (NIDA) Intramural Research Program; NIAAA [5T32AA007459-28] FX This study was funded by the National Institute on Alcohol Abuse and Alcoholism (NIAAA), Grant R21AA019994 (principal investigators: Dr. Leggio and Dr. Kenna). Dr. Leggio's current work is supported by the NIAAA Division of Intramural Clinical and Biological Research and the National Institute on Drug Abuse (NIDA) Intramural Research Program. Dr. Haass-Koffler's work is supported by the 5T32AA007459-28 training grant from NIAAA. NR 43 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1355-6215 EI 1369-1600 J9 ADDICT BIOL JI Addict. Biol. PD JUL PY 2016 VL 21 IS 4 BP 904 EP 914 DI 10.1111/adb.12275 PG 11 WC Biochemistry & Molecular Biology; Substance Abuse SC Biochemistry & Molecular Biology; Substance Abuse GA DQ4CP UT WOS:000379151100014 PM 26037245 ER PT J AU Defechereux, PA Mehrotra, M Liu, AY McMahan, VM Glidden, DV Mayer, KH Vargas, L Amico, KR Chodacki, P Fernandez, T Avelino-Silva, VI Burns, D Grant, RM AF Defechereux, Patricia A. Mehrotra, Megha Liu, Albert Y. McMahan, Vanessa M. Glidden, David V. Mayer, Kenneth H. Vargas, Lorena Amico, K. Rivet Chodacki, Piotr Fernandez, Telmo Avelino-Silva, Vivian I. Burns, David Grant, Robert M. CA IPrEx Study Team TI Depression and Oral FTC/TDF Pre-exposure Prophylaxis (PrEP) Among Men and Transgender Women Who Have Sex With Men (MSM/TGW) SO AIDS AND BEHAVIOR LA English DT Article DE Depression; Men who have sex with men; HIV prevention; PrEP; FTC/TDF; iPrEx ID TENOFOVIR DISOPROXIL FUMARATE; NUTRITION EXAMINATION SURVEY; SUICIDAL IDEATION; BISEXUAL ADULTS; UNITED-STATES; HIV-INFECTION; RISK-TAKING; ANTIRETROVIRAL PROPHYLAXIS; ANGLO ADOLESCENTS; HISPANIC HEALTH AB We conducted a longitudinal and cross-sectional analysis of depressive symptomology in iPrEx, a randomized, placebo-controlled trial of daily, oral FTC/TDF HIV pre-exposure prophylaxis (PrEP) in men and transgender women who have sex with men. Depression-related adverse events (AEs) were the most frequently reported severe or life-threatening AEs and were not associated with being randomized to the FTC/TDF arm (152 vs. 144 respectively OR 0.66 95 % CI 0.35-1.25). Center for Epidemiologic Studies Depression scale (CES-D) and a four questions suicidal ideation scale scores did not differ by arm. Participants reporting forced sex at anal sexual debut had higher CES-D scores (coeff: 3.23; 95 % CI 1.24-5.23) and were more likely to have suicidal ideation (OR 2.2; 95 % CI 1.09-4.26). CESD scores were higher among people reporting non-condom receptive anal intercourse (ncRAI) (OR 1.46; 95 % CI 1.09-1.94). We recommend continuing PrEP during periods of depression in conjunction with provision of mental health services. C1 [Defechereux, Patricia A.; Mehrotra, Megha; McMahan, Vanessa M.; Grant, Robert M.] GIVI, J David Gladstone Inst, Grant Lab, 5th Floor,1650 Owens St, San Francisco, CA 94158 USA. [Liu, Albert Y.] San Francisco Dept Publ Hlth, Bridge HIV, San Francisco, CA USA. [Liu, Albert Y.; Glidden, David V.; Grant, Robert M.] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Mayer, Kenneth H.] Fenway Community Hlth, Boston, MA USA. [Vargas, Lorena] Invest Med Salud, Lima, Peru. [Amico, K. Rivet] Univ Michigan, Sch Publ Hlth, Ann Arbor, MI 48109 USA. [Amico, K. Rivet] Univ Michigan, Sch Publ Hlth, Ann Arbor, MI 48109 USA. [Chodacki, Piotr] Univ Cape Town, Desmond Tutu HIV Fdn, ZA-7925 Cape Town, South Africa. [Fernandez, Telmo] Fdn Ecuatoriana Equidad, Guayaquil, Ecuador. [Avelino-Silva, Vivian I.] Univ Sao Paulo, Sch Med, Sao Paulo, Brazil. [Burns, David] NIH, Bethesda, MD 20892 USA. [Grant, Robert M.] San Francisco AIDS Fdn, San Francisco, CA USA. RP Grant, RM (reprint author), GIVI, J David Gladstone Inst, Grant Lab, 5th Floor,1650 Owens St, San Francisco, CA 94158 USA.; Grant, RM (reprint author), Univ Calif San Francisco, San Francisco, CA 94143 USA.; Grant, RM (reprint author), San Francisco AIDS Fdn, San Francisco, CA USA. EM robert.grant@ucsf.edu FU Division of Acquired Immunodeficiency Syndrome (DAIDS), National Institute of Allergy and Infectious Diseases, National Institutes of Health [UO1 AI64002]; Bill and Melinda Gates Foundation; NIH [U01 AI64002] FX This paper is dedicated to the memory of James Jeff McConnell. The authors thank the iPrEx participants without whom none of these studies would have been possible. This work was supported by the Division of Acquired Immunodeficiency Syndrome (DAIDS), National Institute of Allergy and Infectious Diseases, National Institutes of Health, as a cooperative agreement (UO1 AI64002) and by the Bill and Melinda Gates Foundation. Study drugs were donated by Gilead Sciences. These agencies were not involved in the analysis of data or the preparation of this manuscript. Some of the data was presented as a poster, at the 6th International AIDS Society Conference on HIV Pathogenesis, Treatment, and Prevention, 2011, Rome. The authors also thank all study sites teams for their outstanding work in conducting the iPrEx trial. RG, DG, and VMM designed and coordinated the iPrEx and iPrEx OLE trials. AYL, PD and RG conceived the present depression study. RA provided consultancy. DB was the study sponsor Medical Officer and provided study oversight. AYL, LV, KM, PC, TF, VAS contributed to site leadership, procedural implementation and data collection. MM and DG performed the statistical analysis. PD and MM wrote the manuscript. All authors critically reviewed, revised, and approved the final manuscript. This work was supported by NIH U01 AI64002 and the Bill and Melinda Gates Foundation. Study drug was donated by Gilead Sciences. These agencies were not involved in the analysis of data or the preparation of this manuscript. NR 51 TC 1 Z9 2 U1 5 U2 11 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1090-7165 EI 1573-3254 J9 AIDS BEHAV JI AIDS Behav. PD JUL PY 2016 VL 20 IS 7 BP 1478 EP 1488 DI 10.1007/s10461-015-1082-2 PG 11 WC Public, Environmental & Occupational Health; Social Sciences, Biomedical SC Public, Environmental & Occupational Health; Biomedical Social Sciences GA DQ1ZS UT WOS:000379000500012 PM 26078115 ER PT J AU Nansel, TR Lipsky, LM Liu, AY AF Nansel, Tonja R. Lipsky, Leah M. Liu, Aiyi TI Greater diet quality is associated with more optimal glycemic control in a longitudinal study of youth with type 1 diabetest SO AMERICAN JOURNAL OF CLINICAL NUTRITION LA English DT Article DE continuous glucose monitoring; diet quality; glycemic control; type 1 diabetes; youth ID BLOOD-GLUCOSE CONTROL; CARBOHYDRATE INTAKE; NUTRIENT INTAKE; INDEX; CHILDREN; ADOLESCENTS; MANAGEMENT; MELLITUS; DISEASE; MEALS AB Background: Despite the centrality of nutrition in the management of type 1 diabetes, the association of diet quality and macronutrient distribution with glycemic control is ambiguous. Objective: This study examined longitudinally the association of dietary intake with multiple indicators of glycemic control in youth with type 1 diabetes participating in a behavioral nutrition intervention study. Design: Participants in a randomized clinical trial of a behavioral nutrition intervention [n = 136; mean +/- SD age: 12.8 +/- 2.6 y; glycated hemoglobin (HbA1c): 8.1% +/- 1.0%; 69.1% using an insulin pump] completed 3-d diet records at baseline and months 3, 6, 9, 12, and 18; masked continuous glucose monitoring (CGM) data were obtained concurrently with the use of the Medtronic iPro CGM system. HbA1c was obtained every 3 mo; 1,5-anhydroglucitol was obtained every 6 mo. Linear mixed-effects regression models estimated associations of time-varying dietary intake variables with time varying glycemic control indicators, controlling for age, height, weight, sex, Tanner stage, diabetes duration, regimen, frequency of blood glucose monitoring, physical activity, and treatment assignment. Results: HbA1c was associated inversely with carbohydrate and natural sugar, and positively with protein and unsaturated fat. 1,5-Anhydroglucitol was associated positively with fiber intake and natural sugar. Greater glycemic control as indicated by >= 1 CGM variable was associated with higher Healthy Eating Index-2005, whole plant food density, fiber, carbohydrate, and natural sugar and lower glycemic index and unsaturated fat. Conclusions: Both overall diet quality and macronutrient distribution were associated with more optimal glycemic control. Associations were more consistent for CGM variables obtained concurrently with dietary intake than for biomarkers of longer-term glycemic control. These findings suggest that glycemic control may be improved by increasing intake of high-fiber, low glycemic-index, carbohydrate containing foods. C1 [Nansel, Tonja R.; Lipsky, Leah M.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Hlth Behav Branch, Bethesda, MD USA. [Liu, Aiyi] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Biostat & Bioinformat Branch, Bethesda, MD USA. RP Nansel, TR (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Hlth Behav Branch, Bethesda, MD USA. EM nanselt@mail.nih.gov OI Nansel, Tonja/0000-0002-8298-7595 FU intramural research program of the NIH, Eunice Kennedy Shriver National Institute of Child Health and Human Development [HHSN267200703434C, HHSN2752008000031/HHSN275002] FX This research was supported by the intramural research program of the NIH, Eunice Kennedy Shriver National Institute of Child Health and Human Development, contract nos. HHSN267200703434C and HHSN2752008000031/HHSN275002. NR 38 TC 1 Z9 1 U1 6 U2 10 PU AMER SOC NUTRITION-ASN PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 0002-9165 EI 1938-3207 J9 AM J CLIN NUTR JI Am. J. Clin. Nutr. PD JUL PY 2016 VL 104 IS 1 BP 81 EP 87 DI 10.3945/ajcn.115.126136 PG 7 WC Nutrition & Dietetics SC Nutrition & Dietetics GA DQ1RD UT WOS:000378977200012 PM 27194309 ER PT J AU Schliep, KC Schisterman, EF Wactawski-Wende, J Perkins, NJ Radin, RG Zarek, SM Mitchell, EM Sjaarda, LA Mumford, SL AF Schliep, Karen C. Schisterman, Enrique F. Wactawski-Wende, Jean Perkins, Neil J. Radin, Rose G. Zarek, Shvetha M. Mitchell, Emily M. Sjaarda, Lindsey A. Mumford, Sunni L. TI Serum caffeine and paraxanthine concentrations and menstrual cycle function: correlations with beverage intakes and associations with race, reproductive hormones, and anovulation in the BioCycle Study SO AMERICAN JOURNAL OF CLINICAL NUTRITION LA English DT Article DE anovulation; biological markers; caffeine; menstrual cycle; 1,7-dimethylxanthine ID PREMENOPAUSAL WOMEN; SPORADIC ANOVULATION; EUMENORRHEIC WOMEN; COFFEE; METABOLISM; HEALTHY; RISK; TESTOSTERONE; CONSUMPTION; CYP1A2 AB Background: Clinicians often recommend limiting caffeine intake while attempting to conceive; however, few studies have evaluated the associations between caffeine exposure and menstrual cycle function, and we are aware of no previous studies assessing biological dose via well-timed serum measurements. Objectives: We assessed the relation between caffeine and its metabolites and reproductive hormones in a healthy premenopausal cohort and evaluated potential effect modification by race. Design: Participants (n = 259) were followed for <= 2 menstrual cycles and provided fasting blood specimens <= 8 times/cycle. Linear mixed models were used to estimate associations between serum caffeine bio-markers and geometric mean reproductive hormones, Whereas Poisson regression was used to assess risk of sporadic anovulation. Results: The highest compared with the lowest serum caffeine tertile was associated with lower total testosterone [27.9 ng/dL (95% CI: 26.7, 29.0 ng/dL) compared with 29.1 ng/dL (95% CI: 27.9, 30.3 ng/dL), respectively] and free testosterone [0.178 ng/mL (95% CI: 0.171, 0.185 ng/dL) compared with 0.186 ng/mL (95% CI: 0.179, 0.194 ng/dL), respectively] after adjustment for age, race, percentage of body fat, daily vigorous exercise, perceived stress, depression, dietary factors, and alcohol intake. The highest tertiles compared with the lowest tertiles of caffeine and paraxanthine were also associated with reduced risk of anovulation [adjusted RRs (aRRs): 0.39 (95% CI: 0.18, 0.87) and 0.40 (95% CI: 0.18, 0.87), respectively]. Additional adjustment for self-reported coffee intake did not alter the reproductive hormone findings and only slightly attenuated the results for serum caffeine and paraxanthine and anovulation. Although reductions in the concentrations of total testosterone and free testosterone and decreased risk of anovulation were greatest in Asian women, there was no indication of effect modification by race. Conclusion: Caffeine intake, irrespective of the beverage source, may be associated with reduced testosterone and improved menstrual cycle function in healthy premenopausal women. C1 [Schliep, Karen C.; Schisterman, Enrique F.; Perkins, Neil J.; Radin, Rose G.; Zarek, Shvetha M.; Mitchell, Emily M.; Sjaarda, Lindsey A.; Mumford, Sunni L.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Epidemiol Branch, Rockville, MD 20829 USA. [Schliep, Karen C.] Univ Utah, Hlth Sci Ctr, Dept Family & Prevent Med, Salt Lake City, UT USA. [Wactawski-Wende, Jean] SUNY Buffalo, Dept Epidemiol & Environm Hlth, Buffalo, NY USA. [Zarek, Shvetha M.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Reprod & Adult Endocrinol, Bethesda, MD USA. RP Mumford, SL (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Intramural Populat Hlth Res, Epidemiol Branch, Rockville, MD 20829 USA. EM mumfords@mail.nih.gov OI Perkins, Neil/0000-0002-6802-4733; Sjaarda, Lindsey/0000-0003-0539-8110; Schisterman, Enrique/0000-0003-3757-641X FU Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH [HHSN275200403394C, HHSN275201100002I, Task 1 HHSN27500001]; State University of New York at Buffalo; NIH Office of Dietary Supplements [OD-00-113] FX Supported by the Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH (contracts HHSN275200403394C and HHSN275201100002I and Task 1 HHSN27500001) and the State University of New York at Buffalo. The NIH Office of Dietary Supplements (OD-00-113) provided support for the caffeine-biomarker assessment. NR 36 TC 0 Z9 0 U1 5 U2 7 PU AMER SOC NUTRITION-ASN PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 0002-9165 EI 1938-3207 J9 AM J CLIN NUTR JI Am. J. Clin. Nutr. PD JUL PY 2016 VL 104 IS 1 BP 155 EP 163 DI 10.3945/ajcn.115.118430 PG 9 WC Nutrition & Dietetics SC Nutrition & Dietetics GA DQ1RD UT WOS:000378977200020 PM 27225433 ER PT J AU Semba, RD Zhang, PB Gonzalez-Freire, M Moaddel, R Trehan, I Maleta, KM Isabel'Ordiz, M Ferrucci, L Manary, MJ AF Semba, Richard D. Zhang, Pingbo Gonzalez-Freire, Marta Moaddel, Ruin Trehan, Indi Maleta, Kenneth M. Isabel'Ordiz, M. Ferrucci, Luigi Manary, Mark J. TI The association of serum choline with linear growth failure in young children from rural Malawi SO AMERICAN JOURNAL OF CLINICAL NUTRITION LA English DT Article DE betaine; children; choline; linear growth; malnutrition; trimethylene-N-oxide; stunting; undernutrition ID NERVOUS-SYSTEM MYELINATION; TANDEM MASS-SPECTROMETRY; MIDDLE-INCOME COUNTRIES; ESSENTIAL NUTRIENT; DIETARY-INTAKE; HUMAN INFANCY; HUMAN PLASMA; KINASE BETA; PHOSPHATIDYLCHOLINE; METABOLISM AB Background: Choline is an essential nutrient for cell structure, cell signaling, neurotransmission, lipid transport, and bone formation. Choline can be irreversibly converted to betaine, a major source of methyl groups. Trimethylene N-oxide (TMAO), a proatherogenic molecule, is produced from the metabolism of dietary choline by the gut microbiome. The relation between serum choline and its closely related metabolites with linear growth in children is unknown. Objective: The aim was to characterize the relation between serum choline and its closely related metabolites, betaine and TMAO, with linear growth and stunting in young children. Design: We measured serum choline, betaine, and TMAO concentrations by using liquid chromatography isotopic dilution tandem mass spectrometry in a cross-sectional study in 325 Malawian children, aged 12-59 mo, of whom 62% were stunted. Results: Median (25th, 75th percentile) serum choline, betaine, and TMAO concentrations were 6.4 (4.8, 8.3), 12.4 (9.1, 16.3), and 1.2 (0.7, 1.8) mu mol/L, respectively. Spearman correlation coefficients of age with serum choline, betaine, and TMAO were -0.57 (P < 0.0001), -0.26 (P < 0.0001), and -0.10 (P = 0.07), respectively. Correlation coefficients of height-for-age z score with serum choline, betaine-to-choline ratio, and TMAO-to-choline ratio were 0.31 (P < 0.0001), -0.24 (P < 0.0001), and -0.29 (P < 0.0001), respectively. Serum choline concentrations were strongly and significantly associated with stunting. Children with and without stunting had median (25th, 75th percentile) serum choline concentrations of 5.6 (4.4, 7.4) and 7.3 (5.9, 9.1) mu mol/L (P < 0.0001). Conclusions: Linear growth failure in young children is associated with low serum choline and elevated betaine-to-choline and TMAO-to-choline ratios. Further work is needed to understand whether low dietary choline intake explains low circulating choline among stunted children living in low-income countries and whether increasing choline intake may correct choline deficiency and improve growth and development. C1 [Semba, Richard D.; Zhang, Pingbo] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA. [Gonzalez-Freire, Marta; Moaddel, Ruin; Ferrucci, Luigi] NIA, NIH, Baltimore, MD 21224 USA. [Trehan, Indi; Isabel'Ordiz, M.; Manary, Mark J.] Washington Univ, Dept Pediat, St Louis, MO 63130 USA. [Trehan, Indi; Maleta, Kenneth M.; Manary, Mark J.] Univ Malawi, Coll Med, Dept Community Hlth, Blantyre, Malawi. [Trehan, Indi; Maleta, Kenneth M.; Manary, Mark J.] Univ Malawi, Coll Med, Dept Pediat & Child Hlth, Blantyre, Malawi. RP Semba, RD (reprint author), Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA. EM rdsemba@jhmi.edu FU NIH [R01 AG027012]; Intramural Branch of the National Institute on Aging, Children's Discovery Institute; Hickey Family Foundation FX Supported by the NIH (R01 AG027012), Intramural Branch of the National Institute on Aging, Children's Discovery Institute, and Hickey Family Foundation. NR 48 TC 2 Z9 2 U1 3 U2 4 PU AMER SOC NUTRITION-ASN PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 0002-9165 EI 1938-3207 J9 AM J CLIN NUTR JI Am. J. Clin. Nutr. PD JUL PY 2016 VL 104 IS 1 BP 191 EP 197 DI 10.3945/ajcn.115.129684 PG 7 WC Nutrition & Dietetics SC Nutrition & Dietetics GA DQ1RD UT WOS:000378977200024 PM 27281303 ER PT J AU Foster, MC Coresh, J Hsu, CY Xie, D Levey, AS Nelson, RG Eckfeldt, JH Vasan, RS Kimmel, PL Schelling, J Simonson, M Sondheimer, JH Anderson, AH Akkina, S Feldman, HI Kusek, JW Ojo, AO Inker, LA AF Foster, Meredith C. Coresh, Josef Hsu, Chi-yuan Xie, Dawei Levey, Andrew S. Nelson, Robert G. Eckfeldt, John H. Vasan, Ramachandran S. Kimmel, Paul L. Schelling, Jeffrey Simonson, Michael Sondheimer, James H. Anderson, Amanda Hyre Akkina, Sanjeev Feldman, Harold I. Kusek, John W. Ojo, Akinlolu O. Inker, Lesley A. CA Ckd Biomarker Consortium CRIC Study Investigators TI Serum beta-Trace Protein and beta(2)-Microglobulin as Predictors of ESRD, Mortality, and Cardiovascular Disease in Adults With CKD in the Chronic Renal Insufficiency Cohort (CRIC) Study SO AMERICAN JOURNAL OF KIDNEY DISEASES LA English DT Article DE Beta-trace protein (BTP); beta(2)-microglobulin (B2M); CKD Biomarkers Consortium; filtration markers; renal function; estimated glomerular filtration rate (eGFR); chronic kidney disease (CKD); end-stage renal disease (ESRD); mortality; cardiovascular events; Chronic Renal Insufficiency Cohort (CRIC) ID GLOMERULAR-FILTRATION-RATE; COLLABORATIVE METAANALYSIS; POPULATION COHORTS; CYSTATIN C; GENERAL-POPULATION; HIGHER ALBUMINURIA; KIDNEY-FUNCTION; ALL-CAUSE; MARKERS; CREATININE AB Background: Serum beta-trace protein (BTP) and beta(2)-microglobulin (B2M) are independently associated with end-stage renal disease (ESRD) and mortality in the general population and high-risk groups with diabetes or advanced chronic kidney disease (CKD). Less is known about their associations with outcomes and predictive ability in adults with moderate CKD. Study Design: Prospective cohort study. Setting & Participants: 3,613 adults from the CRIC (Chronic Renal Insufficiency Cohort) Study (45% women; mean age, 57.9 years; 41.0% non-Hispanic black; 51.9% with diabetes). Predictors: BTP and B2M levels with a reciprocal transformation to reflect their associations with filtration, creatinine-based estimated glomerular filtration rate (eGFR(cr)), measured GFR, and a 4-marker composite score combining BTP, B2M, creatinine, and cystatin C levels. Predictors were standardized as z scores for comparisons across filtration markers. Outcomes: ESRD, all-cause mortality, and new-onset cardiovascular disease. Results: During a 6-year median follow-up, 755 (21%) participants developed ESRD, 653 died, and 292 developed new-onset cardiovascular disease. BTP, B2M, and the 4-marker composite score were independent predictors of ESRD and all-cause mortality, and B2M and the 4-marker composite score of cardiovascular events, after multivariable adjustment. These associations were stronger than those observed for eGFR(cr) (P vs eGFR(cr) <= 0.02). The 4-marker composite score led to improvements in C statistic and 2.5year risk reclassification beyond eGFR(cr) for all outcomes. Limitations: Filtration markers measured at one time point; measured GFR available in subset of cohort. Conclusions: BTP and B2M levels may contribute additional risk information beyond eGFR(cr), and the use of multiple markers may improve risk prediction beyond this well-established marker of kidney function among persons with moderate CKD. Am J Kidney Dis. 68(1): 68-76. (C) 2016 by the National Kidney Foundation Inc. Published by Elsevier Inc. All rights reserved. C1 [Foster, Meredith C.; Levey, Andrew S.; Inker, Lesley A.] Tufts Med Ctr, Boston, MA USA. [Coresh, Josef] Johns Hopkins Univ, Baltimore, MD USA. [Hsu, Chi-yuan] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Xie, Dawei; Anderson, Amanda Hyre; Feldman, Harold I.] Univ Penn, Philadelphia, PA 19104 USA. [Nelson, Robert G.] NIDDK, NIH, Phoenix, AZ USA. [Eckfeldt, John H.] Univ Minnesota, Minneapolis, MN USA. [Vasan, Ramachandran S.] Boston Univ, Boston, MA 02215 USA. [Kimmel, Paul L.] NIDDK, NIH, Bethesda, MD 20892 USA. [Schelling, Jeffrey] MetroHlth Med Ctr, Cleveland, OH USA. [Simonson, Michael] Case Western Reserve Univ, Cleveland, OH 44106 USA. [Sondheimer, James H.] Wayne State Univ, Sch Med, Detroit, MI USA. [Akkina, Sanjeev] Univ Illinois, Chicago, IL USA. [Ojo, Akinlolu O.] Univ Michigan, Sch Med, Ann Arbor, MI 48109 USA. RP Inker, LA (reprint author), Tufts Med Ctr, Div Nephrol, 800 Washington St,Box 391, Boston, MA 02111 USA. EM linker@tuftsmedicalcenter.org FU National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [U01DK85649, U01DK085673, U01DK085660, U01DK085688, U01DK085651, U01DK085689]; Intramural Research Program of the NIDDK; National Heart, Lung and Blood Institute [T32 HL007024]; NIDDK [U01DK060990, U01DK060984, U01DK061022, U01DK061021, U01DK061028, U01DK060980, U01DK060963, U01DK060902]; Perelman School of Medicine at the University of Pennsylvania Clinical and Translational Science Award (CTSA) National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS) [UL1TR000003]; Johns Hopkins University [UL1 TR-000424]; University of Maryland [GCRC M01 RR-16500]; Clinical and Translational Science Collaborative of Cleveland; NCATS component of the NIH [UL1TR000439]; Michigan Institute for Clinical and Health Research [UL1TR000433]; University of Illinois at Chicago CTSA [UL1RR029879]; Tulane University Translational Research in Hypertension and Renal Biology [P30GM103337]; Kaiser Permanente NIH/National Center for Research Resources University of California San Francisco-Clinical and Translational Science Institute [UL1 RR-024131]; NIH Roadmap for Medical Research FX The CKD Biomarkers Consortium is funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK; U01DK85649, U01DK085673, U01DK085660, U01DK085688, U01DK085651, and U01DK085689) and the Intramural Research Program of the NIDDK. Dr Foster was supported in part by National Heart, Lung and Blood Institute grant T32 HL007024. Funding for the CRIC Study was obtained under a cooperative agreement from the NIDDK (U01DK060990, U01DK060984, U01DK061022, U01DK061021, U01DK061028, U01DK060980, U01DK060963, and U01DK060902). In addition, this work was supported in part by the following: the Perelman School of Medicine at the University of Pennsylvania Clinical and Translational Science Award (CTSA) National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS) UL1TR000003, Johns Hopkins University UL1 TR-000424, University of Maryland GCRC M01 RR-16500, Clinical and Translational Science Collaborative of Cleveland, UL1TR000439 from the NCATS component of the NIH and NIH Roadmap for Medical Research, Michigan Institute for Clinical and Health Research UL1TR000433, University of Illinois at Chicago CTSA UL1RR029879, Tulane University Translational Research in Hypertension and Renal Biology P30GM103337, and Kaiser Permanente NIH/National Center for Research Resources University of California San Francisco-Clinical and Translational Science Institute UL1 RR-024131. Institutional review board approval numbers for the CRIC Study include University of Pennsylvania (707819 and 807882), Johns Hopkins University (NA 00044034), University of Maryland (HCR-HP-00041233-6), University Hospitals of Cleveland (02-03-04), MetroHealth Medical Center (IRB03-00052), Cleveland Clinic Foundation (5969), University of Michigan (HUM00073515), St. John Health System (SJ 0403-04), Wayne State University (071803MP2F), University of Illinois (2003-0149), Tulane University (H0340), and Kaiser Permanente/UCSF (CN-01AGo-02-H). The funders of this study did not have a role in study design; collection, analysis, and interpretation of data; writing the report; or the decision to submit the report for publication. NR 18 TC 4 Z9 4 U1 2 U2 5 PU W B SAUNDERS CO-ELSEVIER INC PI PHILADELPHIA PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA SN 0272-6386 EI 1523-6838 J9 AM J KIDNEY DIS JI Am. J. Kidney Dis. PD JUL PY 2016 VL 68 IS 1 BP 68 EP 76 DI 10.1053/j.ajkd.2016.01.015 PG 9 WC Urology & Nephrology SC Urology & Nephrology GA DP6VB UT WOS:000378636100015 PM 26948990 ER PT J AU Swortwood, MJ Ellefsen, KN Wohlfarth, A Diao, XX Concheiro-Guisan, M Kronstrand, R Huestis, MA AF Swortwood, Madeleine J. Ellefsen, Kayla N. Wohlfarth, Ariane Diao, Xingxing Concheiro-Guisan, Marta Kronstrand, Robert Huestis, Marilyn A. TI First metabolic profile of PV8, a novel synthetic cathinone, in human hepatocytes and urine by high-resolution mass spectrometry SO ANALYTICAL AND BIOANALYTICAL CHEMISTRY LA English DT Article DE PV8; Novel psychoactive substances; Metabolic profiling; HRMS; Hepatocytes; Synthetic cathinones ID DRUG ALPHA-PYRROLIDINOVALEROPHENONE; HUMAN LIVER-MICROSOMES; IN-VITRO METABOLISM; DESIGNER DRUG; TOXICOLOGICAL DETECTION; BATH SALTS; 3,4-METHYLENEDIOXYPYROVALERONE MDPV; PSYCHOACTIVE SUBSTANCES; IDENTIFICATION; PHARMACOLOGY AB Novel psychoactive substances (NPS) are ever changing on the drug market, making it difficult for toxicology laboratory methods to stay current with so many new drugs. Recently, PV8, a synthetic pyrrolidinophenone, was detected in seized products in Japan (2013), The Netherlands (2014), and Germany (2014). There are no controlled PV8 administration studies, and no pharmacodynamic and pharmacokinetic data. The objective was to determine PV8's metabolic stability in human liver microsome (HLM) incubation and its metabolism following human hepatocyte incubation and high-resolution mass spectrometry (HRMS) with a Thermo Scientific Q-Exactive. Data were acquired with a full-scan data-dependent mass spectrometry method. Scans were thoroughly data mined with different data processing algorithms and analyzed in WebMetaBase. PV8 exhibited a relatively short 28.8 min half-life, with an intrinsic 24.2 mu L/min/mg microsomal clearance. This compound is predicted to be an intermediate clearance drug with an estimated human 22.7 mL/min/kg hepatic clearance. Metabolic pathways identified in vitro included: hydroxylation, ketone reduction, carboxylation, N-dealkylation, iminium formation, dehydrogenation, N-oxidation, and carbonylation. The top three in vitro metabolic pathways were di-hydroxylation > ketone reduction > gamma-lactam formation. Authentic urine specimen analyses revealed the top three metabolic pathways were aliphatic hydroxylation > ketone reduction + aliphatic hydroxylation > aliphatic carboxylation, although the most prominent peak was parent PV8. These data provide useful urinary metabolite targets (aliphatic hydroxylation, aliphatic hydroxylation + ketone reduction, aliphatic carboxylation, and di-hydroxylation) for forensic and clinical testing, and focus reference standard companies' synthetic efforts to provide commercially available standards needed for PV8 biological specimen testing. C1 [Swortwood, Madeleine J.; Ellefsen, Kayla N.; Wohlfarth, Ariane; Diao, Xingxing; Concheiro-Guisan, Marta; Huestis, Marilyn A.] NIDA, Chem & Drug Metab, Intramural Res Program, NIH, 251 Bayview Blvd Suite 05A721, Baltimore, MD 21224 USA. [Ellefsen, Kayla N.] Univ Maryland, Toxicol Program, Baltimore, MD 21201 USA. [Wohlfarth, Ariane; Kronstrand, Robert] Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, Artillerigatan 12, S-58758 Linkoping, Sweden. [Wohlfarth, Ariane; Kronstrand, Robert] Linkoping Univ, Dept Med & Hlth Sci, Fac Hlth Sci, S-58185 Linkoping, Sweden. [Concheiro-Guisan, Marta] CUNY John Jay Coll Criminal Justice, Dept Sci, New York, NY 10019 USA. [Huestis, Marilyn A.] Univ Maryland Baltimore, Sch Med, 683 Shore Rd, Severna Pk, MD 21146 USA. RP Huestis, MA (reprint author), NIDA, Chem & Drug Metab, Intramural Res Program, NIH, 251 Bayview Blvd Suite 05A721, Baltimore, MD 21224 USA.; Huestis, MA (reprint author), Univ Maryland Baltimore, Sch Med, 683 Shore Rd, Severna Pk, MD 21146 USA. EM marilyn.huestis@gmail.com FU National Institute on Drug Abuse, National Institutes of Health FX The authors thank Tim Moeller of Bioreclamation IVT for his assistance with the hepatocyte incubation, as well as Ismael Zamora and his team at Molecular Discovery for the MetaSite and WebMetabase software. This research was funded by the Intramural Research Program of the National Institute on Drug Abuse, National Institutes of Health. NR 42 TC 2 Z9 2 U1 13 U2 20 PU SPRINGER HEIDELBERG PI HEIDELBERG PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY SN 1618-2642 EI 1618-2650 J9 ANAL BIOANAL CHEM JI Anal. Bioanal. Chem. PD JUL PY 2016 VL 408 IS 18 BP 4845 EP 4856 DI 10.1007/s00216-016-9599-4 PG 12 WC Biochemical Research Methods; Chemistry, Analytical SC Biochemistry & Molecular Biology; Chemistry GA DQ1ZI UT WOS:000378999500004 PM 27185540 ER PT J AU Parrado, EA Flippen, CA AF Parrado, Emilio A. Flippen, Chenoa A. TI The Departed: Deportations and Out-Migration among Latino Immigrants in North Carolina after the Great Recession SO ANNALS OF THE AMERICAN ACADEMY OF POLITICAL AND SOCIAL SCIENCE LA English DT Article DE immigration; recession; deportation; Hispanic ID RETURN MIGRATION; UNITED-STATES; OPPORTUNITY; MIGRANTS; MEXICO AB This article explores the impact of the 2007 recession and immigration enforcement policies on Latin American immigrants' out-migration from the Durham, North Carolina, areaa new immigrant destination. Drawing on an original ethnosurvey collected in 2011, the analysis assesses the extent of out-migration over time, what precipitated the move, and whether individuals returned to their country of origin or migrated within the United States. We find that out-migration more than doubled after the 2007 recession and that migrants overwhelmingly returned to their home countries. While family considerations and accidents accounted for most of the departures before the recession, economic considerations became the dominant drivers of out-migration after 2007. Deportations also grew in number but accounted for a negligible share of all out-migration. Departures were more prevalent among immigrants from Mexico and those with lower educational attainment. Latin American migration, especially from Mexico, continues to be circular, and deportation is a relatively ineffective strategy for immigrant population control when compared to voluntary returns. C1 [Parrado, Emilio A.] Univ Penn, Dept Sociol, Philadelphia, PA 19104 USA. [Flippen, Chenoa A.] Univ Penn, Sociol, Philadelphia, PA 19104 USA. RP Parrado, EA (reprint author), NIH, Bldg 10, Bethesda, MD 20892 USA. EM eparrado@upenn.edu FU NIH/Fogarty [TW008704-03] FX This research was supported by NIH/Fogarty grant #TW008704-03. NR 35 TC 0 Z9 0 U1 3 U2 3 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0002-7162 EI 1552-3349 J9 ANN AM ACAD POLIT SS JI Ann. Am. Acad. Polit. Soc. Sci. PD JUL PY 2016 VL 666 IS 1 BP 131 EP 147 DI 10.1177/0002716216646563 PG 17 WC Political Science; Social Sciences, Interdisciplinary SC Government & Law; Social Sciences - Other Topics GA DQ2KT UT WOS:000379031900008 ER PT J AU Block, TM Alter, HJ London, WT Bray, M AF Block, Timothy M. Alter, Harvey J. London, W. Thomas Bray, Mike TI A historical perspective on the discovery and elucidation of the hepatitis B virus SO ANTIVIRAL RESEARCH LA English DT Article ID HOMOLOGOUS SERUM JAUNDICE; TRANSFUSION-ASSOCIATED HEPATITIS; ANTIGEN-ASSOCIATED HEPATITIS; IMMUNE ELECTRON-MICROSCOPY; ACUTE VIRAL-HEPATITIS; UNITED-STATES-ARMY; AUSTRALIA-ANTIGEN; HEPATOCELLULAR-CARCINOMA; NON-A; INFECTIOUS-HEPATITIS AB The discovery in 1965 of the "Australia antigen," subsequently identified as the hepatitis B virus surface antigen (HBsAg), was such a watershed event in virology that it is often thought to mark the beginning of hepatitis research, but it is more accurately seen as a critical breakthrough in a long effort to understand the pathogenesis of infectious hepatitis. A century earlier, Virchow provided an authoritative explanation of "catarrhal jaundice," which did not consider an infectious etiology, but the transmission of jaundice by human serum was clearly identified in two outbreaks in 1885, and the distinction between "infectious" and "serum" hepatitis was recognized by the early 1920s. The inability to culture a virus or reproduce either syndrome in laboratory animals led to numerous studies in human volunteers; by the end of World War II, it was known that the diseases were caused by different filterable agents, and the terms "hepatitis A" and "B" were introduced in 1947 (though some long-incubation cases then designated B must in retrospect have been hepatitis C). The development of a number of liver function tests during the 1950s led to the recognition of anicteric infections and the existence of chronic carriers, but little more could be done until an infectious agent had been identified. Once Blumberg and colleagues had found a specific viral marker, the vast amount of accumulated epidemiologic and clinical data, together with huge numbers of stored serum samples, enabled rapid progress in understanding hepatitis B, and revealed the existence of a vast population of chronically infected people in Asia, Oceania and Africa. In this article, we place the identification of the Australia antigen within the historical context of research on viral hepatitis. Following a chronological review from 1865 to 1965, we summarize how the discovery led to improved safety of blood transfusion, the development of a highly effective vaccine and the eventual identification of the hepatitis C, D and E viruses. This article forms part of a symposium in Antiviral Research on "An unfinished story: from the discovery of the Australia antigen to the development of new curative therapies for chronic hepatitis B." (C) 2016 Elsevier B.V. All rights reserved. C1 [Block, Timothy M.] Baruch S Blumberg Inst, 3805 Old Easton Rd, Doylestown, PA 18902 USA. [Alter, Harvey J.] NIH, Dept Transfus Med, Bethesda, MD 20892 USA. [London, W. Thomas] Fox Chase Canc Ctr, Philadelphia, PA 19046 USA. [Bray, Mike] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Block, TM (reprint author), Baruch S Blumberg Inst, 3805 Old Easton Rd, Doylestown, PA 18902 USA. EM tim.block@bblumberg.org NR 157 TC 0 Z9 0 U1 7 U2 7 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0166-3542 EI 1872-9096 J9 ANTIVIR RES JI Antiviral Res. PD JUL PY 2016 VL 131 BP 109 EP 123 DI 10.1016/j.antiviral.2016.04.012 PG 15 WC Pharmacology & Pharmacy; Virology SC Pharmacology & Pharmacy; Virology GA DQ1KV UT WOS:000378960800014 PM 27107897 ER PT J AU Islam, N Nagy, A Garrett, WM Shelton, D Cooper, B Nou, XW AF Islam, Nazrul Nagy, Attila Garrett, Wesley M. Shelton, Dan Cooper, Bret Nou, Xiangwu TI Different Cellular Origins and Functions of Extracellular Proteins from Escherichia coli O157:H7 and O104:H4 as Determined by Comparative Proteomic Analysis SO APPLIED AND ENVIRONMENTAL MICROBIOLOGY LA English DT Article ID ENTERICA SEROVAR TYPHIMURIUM; PERIPLASMIC-LEAKY MUTANTS; MASS-SPECTROMETRY DATA; IDENTIFICATION TECHNOLOGY; VIRULENCE FACTORS; OUTBREAK STRAIN; GROUND-BEEF; SEQUENCE; O157-H7; O104/H4 AB Extracellular proteins play important roles in bacterial interactions with the environmental matrices. In this study, we examined the extracellular proteins from Escherichia coli O157:H7 and O104:H4 by tandem mass spectrometry. We identified 500 and 859 proteins from the growth media of E. coli O157:H7 and O104:H4, respectively, including 371 proteins common to both strains. Among proteins that were considered specific to E. coli O157:H7 or present at higher relative abundances in O157:H7 medium, most (57 of 65) had secretion signal sequences in their encoding genes. Noticeably, the proteins included locus of enterocyte effacement (LEE) virulence factors, proteins required for peptidyl-lipoprotein accumulation, and proteins involved in iron scavenging. In contrast, a much smaller proportion of proteins (37 of 150) that were considered specific to O104:H4 or presented at higher relative abundances in O104:H4 medium had signals targeting them for secretion. These proteins included Shiga toxin 2 subunit B and O104:H4 signature proteins, including AAF/1 major fimbrial subunit and serine protease autotransporters. Most of the abundant proteins from the growth medium of E. coli O104:H4 were annotated as having functions in the cytoplasm. We provide evidence that the extensive presence of cytoplasmic proteins in E. coli O104:H4 growth medium was due to biological processes independent of cell lysis, indicating alternative mechanisms for this potent pathogen releasing cytoplasmic contents into the growth milieu, which could play a role in interaction with the environmental matrices, such as pathogenesis and biofilm formation. IMPORTANCE In this study, we compared the extracellular proteins from two of the most prominent foodborne pathogenic E. coli organisms that have caused severe outbreaks in the United States and in Europe. E. coli O157:H7 is a well-studied Shiga toxigenic foodborne pathogen of the enterohemorrhagic pathotype that has caused numerous outbreaks associated with various contaminated foods worldwide. E. coli O104:H4 is a newly emerged Shiga toxigenic foodborne pathogen of the enteroaggregative pathotype that gained notoriety for causing one of the most deadly foodborne outbreaks in Europe in 2011. Comparison of proteins in the growth medium revealed significant differences in the compositions of the extracellular proteins for these two pathogens. These differences may provide valuable information regarding the cellular responses of these pathogens to their environment, including cell survival and pathogenesis. C1 [Islam, Nazrul; Nagy, Attila; Shelton, Dan; Nou, Xiangwu] ARS, Environm Microbial & Food Safety Lab, USDA, Beltsville, MD 20705 USA. [Garrett, Wesley M.] ARS, Anim Biosci & Biotechnol Lab, USDA, Beltsville, MD 20705 USA. [Cooper, Bret] ARS, Soybean Genom & Improvement Lab, USDA, Beltsville, MD 20705 USA. [Islam, Nazrul] Univ Maryland, Dept Nutr & Food Sci, College Pk, MD 20742 USA. [Nagy, Attila] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Nou, XW (reprint author), ARS, Environm Microbial & Food Safety Lab, USDA, Beltsville, MD 20705 USA.; Cooper, B (reprint author), ARS, Soybean Genom & Improvement Lab, USDA, Beltsville, MD 20705 USA. EM bret.cooper@ars.usda.gov; xiangwu.nou@ars.usda.gov FU USDA-ARS; University of Maryland, College Park, MD FX This research was funded by USDA-ARS and a specific cooperative agreement between USDA-ARS and the University of Maryland, College Park, MD. NR 54 TC 1 Z9 1 U1 8 U2 8 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 0099-2240 EI 1098-5336 J9 APPL ENVIRON MICROB JI Appl. Environ. Microbiol. PD JUL PY 2016 VL 82 IS 14 BP 4371 EP 4378 DI 10.1128/AEM.00977-16 PG 8 WC Biotechnology & Applied Microbiology; Microbiology SC Biotechnology & Applied Microbiology; Microbiology GA DQ6WB UT WOS:000379345100031 PM 27208096 ER PT J AU Kent, EE Rowland, JH Northouse, L Litzelman, K Chou, WYS Shelburne, N Timura, C O'Mara, A Huss, K AF Kent, Erin E. Rowland, Julia H. Northouse, Laurel Litzelman, Kristin Chou, Wen-Ying Sylvia Shelburne, Nonniekaye Timura, Catherine O'Mara, Ann Huss, Karen TI Caring for caregivers and patients: Research and clinical priorities for informal cancer caregiving SO CANCER LA English DT Review DE behavioral science; cancer; family caregivers; neoplasms; supportive care; technology ID QUALITY-OF-LIFE; FAMILY CAREGIVERS; PSYCHOSOCIAL INTERVENTIONS; ACTIVE INTERVENTION; SYMPTOM MANAGEMENT; CHRONIC ILLNESS; BREAST-CANCER; METAANALYSIS; SURVIVORS; TRIAL AB Informal/family caregivers are a fundamental source of care for cancer patients in the United States, yet the population of caregivers and their tasks, psychosocial needs, and health outcomes are not well understood. Changes in the nature of cancer care and its delivery, along with the growing population of survivors and their caregivers, warrant increased attention to the roles and demands of caregiving. This article reviews current evidence presented at a 2-day meeting examining the state of the science of informal cancer caregiving that was convened by the National Cancer Institute and the National Institute of Nursing Research. The meeting sought to define who is an informal cancer caregiver, summarize the state of the science in informal cancer caregiving, and describe both the kinds of interventions developed to address caregiving challenges and the various outcomes used to evaluate their impact. This article offers recommendations for moving science forward in 4 areas: 1) improving the estimation of the prevalence and burden of informal cancer caregiving; 2) advancing the development of interventions designed to improve outcomes for cancer patients, caregivers, and patient-caregiver dyads; 3) generating and testing strategies for integrating caregivers into formal health care settings; and 4) promoting the use of technology to support informal cancer caregivers. Cancer 2016;122:1987-95. (c) 2016 American Cancer Society. This article reviews current evidence on the state of the science of informal cancer caregiving. Recommendations include improving the prevalence and burden estimation of informal cancer caregiving; advancing the development of interventions designed to improve outcomes for cancer patients, caregivers, and patient-caregiver dyads; generating strategies to integrate caregivers into formal health care settings; and promoting the use of technology to support informal cancer caregivers. C1 [Kent, Erin E.; Rowland, Julia H.; Litzelman, Kristin; Chou, Wen-Ying Sylvia; Shelburne, Nonniekaye] NCI, Div Canc Control & Populat Sci, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. [Northouse, Laurel] Univ Michigan, Sch Nursing, Ann Arbor, MI 48109 USA. [Timura, Catherine] NINR, Div Sci Policy & Publ Liaison, Bethesda, MD 20892 USA. [O'Mara, Ann] NCI, Canc Prevent Div, Bethesda, MD 20892 USA. [Huss, Karen] NINR, Div Extramural Sci Programs, Off Extramural Programs, Bethesda, MD 20892 USA. RP Kent, EE (reprint author), NCI, Div Canc Control & Populat Sci, 9609 Med Ctr Dr, Bethesda, MD 20892 USA. EM erin.kent@nih.gov NR 61 TC 3 Z9 3 U1 9 U2 14 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0008-543X EI 1097-0142 J9 CANCER-AM CANCER SOC JI Cancer PD JUL 1 PY 2016 VL 122 IS 13 BP 1987 EP 1995 DI 10.1002/cncr.29939 PG 9 WC Oncology SC Oncology GA DQ3XS UT WOS:000379137900007 PM 26991807 ER PT J AU Bradley, MC Black, A Freedman, AN Barron, TI AF Bradley, Marie C. Black, Amanda Freedman, Andrew N. Barron, Thomas I. TI Prediagnostic aspirin use and mortality in women with stage I to III breast cancer: A cohort study in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial SO CANCER LA English DT Article DE aspirin; breast cancer mortality; lymph node metastasis; Prostate; Lung; Colorectal and Ovarian (PLCO) Cancer Screening Trial; postmenopausal ID NONSTEROIDAL ANTIINFLAMMATORY DRUGS; RANDOMIZED CONTROLLED-TRIALS; POPULATION-BASED COHORT; SURVIVAL; DIAGNOSIS; RISK; NATIONWIDE AB BACKGROUNDThere is a body of evidence indicating that aspirin may reduce the risk of cancer mortality. However, to the authors' knowledge, the optimal exposure timing and mechanism of action remain unclear. In the current study, the authors investigated associations between prediagnostic aspirin use and breast cancer-specific mortality in a US population. METHODSPostmenopausal women diagnosed with stage I to III breast cancer (1993-2009) were identified (2925 women with a total of 18,073 person-years) from the National Cancer Institute's Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. Prediagnostic aspirin use (1274 women) was identified from study questionnaires. Multivariate Cox proportional hazards models were used to estimate hazard ratios (HRs) with 95% confidence intervals (95% CIs) for associations between aspirin use and breast cancer-specific mortality. Effect modification by lymph node status was evaluated. RESULTSPrediagnostic aspirin use was not found to be associated with lower breast cancer-specific mortality (HR, 0.95; 95% CI, 0.68-1.31 [P = .74]). In analyses stratified by lymph node status, aspirin use was found to be associated with lower breast cancer-specific mortality among women with lymph node-negative tumors (HR, 0.54; 95% CI, 0.32-0.93 [P = 0.02]), but not those with lymph node-positive tumors (HR, 1.41; 95% CI, 0.92-2.16 [P = 0.11]). Tests for interaction were found to be statistically significant (P for interaction =.006). No association was noted between aspirin use and lymph node status. CONCLUSIONSPrediagnostic aspirin use was not found to be associated with a reduction in breast cancer-specific mortality overall. However, effect modification by lymph node status was observed and mortality was found to be reduced by approximately one-half among aspirin users with lymph node-negative disease. This represents a clinically significant reduction in breast cancer mortality. These findings contribute to the understanding of aspirin's mechanism of action in breast cancer. However, further etiologic research to understand this association is warranted. Cancer 2016;122:2067-75. (c) 2016 American Cancer Society. There is a growing body of evidence that aspirin may reduce the risk of cancer mortality; however, the precise mechanism of action remains unclear. The results of the current study demonstrate, for what to the authors' knowledge is the first time, a statistically significant interaction between lymph node status at the time of diagnosis and prediagnostic aspirin use. The absence of metastasis at the time of diagnosis may indicate patients whose breast tumors have responded to prediagnostic aspirin use, and consequently is predictive of a survival benefit from aspirin use in these patients. C1 [Bradley, Marie C.; Freedman, Andrew N.] NCI, Clin & Translat Epidemiol Branch, Epidemiol & Genom Res Program, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. [Black, Amanda] NCI, Epidemiol & Biostat Program, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Barron, Thomas I.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. RP Bradley, MC (reprint author), NCI, Clin & Translat Epidemiol Branch, Epidemiol & Genom Res Program, Div Canc Control & Populat Sci, 9609 Med Ctr Dr, Rockville, MD 20850 USA. EM marie.bradley@nih.gov FU Intramural Research Program of the Division of Cancer Epidemiology and Genetics; Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Department of Health and Human Services; Irish Cancer Society Collaborative Cancer Research Centre BREAST-PREDICT [CCRC13GAL]; Health Research Board of Ireland [CPFP2012-1490, ICE20119, HSR201230]; Irish Cancer Society Collaborative Can- cer Research Centre BREAST-PREDICT [CCRC13GAL] FX Supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics and by contracts from the Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Department of Health and Human Services. This study is based on works supported by the Irish Cancer Society Collaborative Cancer Research Centre BREAST-PREDICT (CCRC13GAL). Marie C. Bradley's position was supported by the Health Research Board of Ireland (CPFP2012-1490). Thomas I. Barrono s position was supported by the Health Research Board of Ireland (ICE20119 and HSR201230) and the Irish Cancer Society Collaborative Can- cer Research Centre BREAST-PREDICT (CCRC13GAL). The interpretation and reporting of these data are the responsibility of the authors and should in no way be seen as the official policy or interpretation of the National Cancer Institute, the Health Research Board of Ireland, or the Irish Cancer Society. NR 28 TC 1 Z9 1 U1 1 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0008-543X EI 1097-0142 J9 CANCER-AM CANCER SOC JI Cancer PD JUL 1 PY 2016 VL 122 IS 13 BP 2067 EP 2075 DI 10.1002/cncr.30004 PG 9 WC Oncology SC Oncology GA DQ3XS UT WOS:000379137900016 PM 27149646 ER PT J AU Kummar, S Chen, A Gutierrez, M Pfister, TD Wang, LH Redon, C Bonner, WM Yutzy, W Zhang, YP Kinders, RJ Ji, JP Allen, D Covey, JM Eiseman, JL Holleran, JL Beumer, JH Rubinstein, L Collins, J Tomaszewski, J Parchment, R Pommier, Y Doroshow, JH AF Kummar, Shivaani Chen, Alice Gutierrez, Martin Pfister, Thomas D. Wang, Lihua Redon, Christophe Bonner, William M. Yutzy, William Zhang, Yiping Kinders, Robert J. Ji, Jiuping Allen, Deborah Covey, Joseph M. Eiseman, Julie L. Holleran, Julianne L. Beumer, Jan H. Rubinstein, Larry Collins, Jerry Tomaszewski, Joseph Parchment, Ralph Pommier, Yves Doroshow, James H. TI Clinical and pharmacologic evaluation of two dosing schedules of indotecan (LMP400), a novel indenoisoquinoline, in patients with advanced solid tumors SO CANCER CHEMOTHERAPY AND PHARMACOLOGY LA English DT Article DE DNA damage; DNA topoisomerase I; NSC 743400; Indenoisoquinolines; H2AX protein; Hair follicle ID TOPOISOMERASE-I INHIBITORS; BIOLOGICAL EVALUATION; INDIMITECAN LMP776; COLORECTAL-CANCER; GAMMA-H2AX; TRIAL AB Indenoisoquinolines are non-camptothecin topoisomerase I (TopI) inhibitors that overcome the limitations of camptothecins: chemical instability and camptothecin resistance. Two dosing schedules of the novel indenoisoquinoline, indotecan (LMP400), were evaluated in patients with advanced solid tumors. The maximum tolerated dose (MTD), toxicities, and pharmacokinetics of two indotecan drug administration schedules (daily for 5 days or weekly) were investigated. Modulation of TopI and the phosphorylation of histone H2AX (gamma H2AX) were assayed in tumor biopsies; gamma H2AX levels were also evaluated in circulating tumor cells (CTCs) and hair follicles to assess DNA damage response. An MTD of 60 mg/m(2)/day was established for the daily regimen, compared to 90 mg/m(2) for the weekly regimen. The TopI response to drug showed target engagement in a subset of tumor biopsies. Pharmacokinetics profiles demonstrated a prolonged terminal half-life and tissue accumulation compared to topotecan. Dose-dependent decreases in total CTCs were measured in seven patients. Formation of gamma H2AX-positive foci in CTCs (day 3) and hair follicles (4-6 h) was observed following treatment. We established the MTD of two dosing schedules for a novel TopI inhibitor, indotecan. Target engagement was demonstrated as Top1 downregulation and gamma H2AX response. No objective responses were observed on either schedule in this small patient cohort. The principal toxicity of both schedules was myelosuppression; no significant gastrointestinal problems were observed. Increased DNA damage response was observed in CTCs, hair follicles, and a subset of tumor biopsies. C1 [Kummar, Shivaani; Chen, Alice; Gutierrez, Martin; Allen, Deborah; Covey, Joseph M.; Rubinstein, Larry; Collins, Jerry; Tomaszewski, Joseph; Doroshow, James H.] NCI, Div Canc Treatment & Diag, NIH, 31 Ctr Dr,Room 3A44, Bethesda, MD 20814 USA. [Pfister, Thomas D.; Wang, Lihua; Yutzy, William; Zhang, Yiping; Kinders, Robert J.; Ji, Jiuping; Parchment, Ralph] Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Frederick, MD USA. [Redon, Christophe; Bonner, William M.; Pommier, Yves; Doroshow, James H.] NCI, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Eiseman, Julie L.; Holleran, Julianne L.; Beumer, Jan H.] Univ Pittsburgh, Inst Canc, Canc Therapeut Program, Pittsburgh, PA USA. RP Doroshow, JH (reprint author), NCI, Div Canc Treatment & Diag, NIH, 31 Ctr Dr,Room 3A44, Bethesda, MD 20814 USA.; Doroshow, JH (reprint author), NCI, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM doroshoj@mail.nih.gov OI Beumer, Jan/0000-0002-8978-9401 FU National Cancer Institute, National Institutes of Health [HHSN261200800001E]; NIH/NCI [N01CM-2011-0015, UM1CA186690]; Intramural Research Program of the National Cancer Institute, Center for Cancer Research [BC 006161]; [P30CA047904] FX This project was funded with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. Support was received from Contract N01CM-2011-0015, Grant UM1CA186690 (NIH/NCI). This work was supported by the Intramural Research Program of the National Cancer Institute, Center for Cancer Research (BC 006161). This project used the UPCI Cancer Pharmacokinetics and Pharmacodynamics Facility (CPPF) and was supported in part by Award P30CA047904. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services. NR 18 TC 0 Z9 0 U1 1 U2 2 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0344-5704 EI 1432-0843 J9 CANCER CHEMOTH PHARM JI Cancer Chemother. Pharmacol. PD JUL PY 2016 VL 78 IS 1 BP 73 EP 81 DI 10.1007/s00280-016-2998-6 PG 9 WC Oncology; Pharmacology & Pharmacy SC Oncology; Pharmacology & Pharmacy GA DQ2IY UT WOS:000379027200007 PM 27169793 ER PT J AU Moore, EC Cash, HA Caruso, AM Uppaluri, R Hodge, JW Van Waes, C Allen, CT AF Moore, Ellen C. Cash, Harrison A. Caruso, Andria M. Uppaluri, Ravindra Hodge, James W. Van Waes, Carter Allen, Clint T. TI Enhanced Tumor Control with Combination mTOR and PD-L1 Inhibition in Syngeneic Oral Cavity Cancers SO CANCER IMMUNOLOGY RESEARCH LA English DT Article ID SQUAMOUS-CELL CARCINOMA; NECK-CANCER; HEAD; IMMUNOTHERAPY; RAPAMYCIN; GROWTH; MICROENVIRONMENT; DIFFERENTIATION; RECOGNITION; LYMPHOCYTES AB Significant subsets of patients with oral cancer fail to respond to single-agent programmed death (PD) blockade. Syngeneic models of oral cancer were used to determine if blocking oncogenic signaling improved in vivo responses to PD-L1 monoclonal antibody (mAb). Anti-PD-L1 enhanced durable primary tumor control and survival when combined with mTOR (rapamycin), but not in combination with MEK inhibition (PD901) in immunogenic MOC1 tumors. Conversely, PD-L1 mAb did not enhance tumor control in poorly immunogenic MOC2 tumors. Rapamycin enhanced expansion of peripheral antigen-specific CD8 T cells and IFN gamma production following ex vivo antigen stimulation. More CD8 T cells infiltrated and were activated after PD-L1 mAb treatment in mice with immunogenic MOC1 tumors, which were stable or increased by the addition of rapamycin, but suppressed when PD901 was added. Rapamycin increased IFN gamma production capacity in peripheral and tumor-infiltrating CD8 T cells. In vivo antibody depletion revealed a CD8 T-cell-dependent, and not NK cell-dependent mechanism of tumor growth inhibition after treatment with rapamycin and PD-L1 mAb, ruling out significant effects from NK cell-mediated antibody-dependent cellular cytotoxicity. Rapamycin also enhanced IFN gamma or PD-L1 mAb treatment-associated induction of MHC class I expression on MOC1 tumor cells, an effect abrogated by depleting infiltrating CD8 T cells from the tumor microenvironment. These data conflict with traditional views of rapamycin as a universal immunosuppressant, and when combined with evidence of enhanced antitumor activity with the combination of rapamycin and PD-L1 mAb, suggest that this treatment combination deserves careful evaluation in the clinical setting. C1 [Moore, Ellen C.; Cash, Harrison A.; Caruso, Andria M.; Van Waes, Carter; Allen, Clint T.] Natl Inst Deafness & Other Commun Disorders, Tumor Biol Sect, Head & Neck Surg Branch, NIH, Bethesda, MD USA. [Uppaluri, Ravindra] Washington Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, St Louis, MO 63110 USA. [Hodge, James W.] NCI, Lab Tumor Immunol & Biol, Ctr Canc Res, Bethesda, MD 20892 USA. [Allen, Clint T.] Johns Hopkins Sch Med, Dept Otolaryngol Head & Neck Surg, Baltimore, MD USA. RP Allen, CT (reprint author), Natl Inst Deafness & Other Commun Disorders, Tumor Biol Sect, Head & Neck Surg Branch, NIH, Bethesda, MD USA.; Allen, CT (reprint author), NIH, CRC 4-2732, Bethesda, MD 20892 USA. EM clint.allen@nih.gov RI Hodge, James/D-5518-2015 OI Hodge, James/0000-0001-5282-3154 FU Intramural NIH HHS [ZIA DC000087-01]; NIDCD NIH HHS [ZIA DC000087] NR 39 TC 1 Z9 1 U1 3 U2 6 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 2326-6066 EI 2326-6074 J9 CANCER IMMUNOL RES JI Cancer Immunol. Res. PD JUL PY 2016 VL 4 IS 7 BP 611 EP 620 DI 10.1158/2326-6066.CIR-15-0252 PG 10 WC Oncology; Immunology SC Oncology; Immunology GA DQ8ZF UT WOS:000379499500007 PM 27076449 ER PT J AU Taveira-DaSilva, AM Julien-Williams, P Jones, AM Moss, J AF Taveira-DaSilva, Angelo M. Julien-Williams, Patricia Jones, Amanda M. Moss, Joel TI Incidence of Pneumothorax in Patients With Lymphangioleiomyomatosis Undergoing Pulmonary Function and Exercise Testing SO CHEST LA English DT Editorial Material DE exercise testing; lymphangioleiomyomatosis; pulmonary function test ID SUBCUTANEOUS EMPHYSEMA; PNEUMOMEDIASTINUM AB Because pneumothorax is frequent in lymphangioleiomyomatosis, patients have expressed concerns regarding the risk of pneumothorax associated with pulmonary function or exercise testing. Indeed, pneumothorax has been reported in patients with lung disease after both of these tests. The aim of this study was to determine the incidence of pneumothorax in patients with lymphangioleiomyomatosis during admissions to the National Institutes of Health Clinical Research Center between 1995 and 2015. Medical records were reviewed to identify patients who had a pneumothorax during their stay at the National Institutes of Health. A total of 691 patients underwent 4,523 pulmonary function tests and 1,900 exercise tests. Three patients developed pneumothorax after pulmonary function tests and/or exercise tests. The incidence of pneumothorax associated with lung function testing was 0.14 to 0.29 of 100 patients or 0.02 to 0.04 of 100 tests. The incidence of pneumothorax in patients undergoing exercise testing was 0.14 to 0.28 of 100 patients or 0.05 to 0.10 of 100 tests. The risk of pneumothorax associated with pulmonary function or exercise testing in patients with lymphangioleiomyomatosis is low. C1 [Taveira-DaSilva, Angelo M.; Julien-Williams, Patricia; Jones, Amanda M.; Moss, Joel] NHLBI, Cardiovasc & Pulm Branch, NIH, Bldg 10,Rm 6D03,MSC 1590, Bethesda, MD 20892 USA. RP Taveira-DaSilva, AM (reprint author), NHLBI, Cardiovasc & Pulm Branch, NIH, Bldg 10,Rm 6D03,MSC 1590, Bethesda, MD 20892 USA. EM dasilvaa@nhlbi.nih.gov FU Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute [95-H-0186] FX This study was supported by the Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute [Grant 95-H-0186]. NR 11 TC 0 Z9 0 U1 1 U2 2 PU AMER COLL CHEST PHYSICIANS PI GLENVIEW PA 2595 PATRIOT BLVD, GLENVIEW, IL 60026 USA SN 0012-3692 J9 CHEST JI Chest PD JUL PY 2016 VL 150 IS 1 BP E5 EP E8 DI 10.1016/j.chest.2015.10.071 PG 4 WC Critical Care Medicine; Respiratory System SC General & Internal Medicine; Respiratory System GA DQ5BS UT WOS:000379220000002 PM 27396798 ER PT J AU Scales, CD Tasian, GE Schwaderer, AL Goldfarb, DS Star, RA Kirkali, Z AF Scales, Charles D., Jr. Tasian, Gregory E. Schwaderer, Andrew L. Goldfarb, David S. Star, Robert A. Kirkali, Ziya TI Urinary Stone Disease: Advancing Knowledge, Patient Care, and Population Health SO CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY LA English DT Article ID PREVENT RECURRENT NEPHROLITHIASIS; SYMPTOMATIC KIDNEY-STONES; SHOCK-WAVE LITHOTRIPSY; UNITED-STATES; MEDICAL-MANAGEMENT; CLINICAL-PRACTICE; AMERICAN-COLLEGE; CONTROLLED-TRIAL; TRACT CALCULI; WATER-INTAKE AB Expanding epidemiologic and physiologic data suggest that urinary stone disease is best conceptualized as a chronic metabolic condition punctuated by symptomatic, preventable stone events. These acute events herald substantial future chronic morbidity, including decreased bone mineral density, cardiovascular disease, and CKD. Urinary stone disease imposes a large and growing public health burden. In the United States, 1 in 11 individuals will experience a urinary stone in their lifetime. Given this high incidence and prevalence, urinary stone disease is one of the most expensive urologic conditions, with health care charges exceeding $10 billion annually. Patient care focuses on management of symptomatic stones rather than prevention; after three decades of innovation, procedural interventions are almost exclusively minimally invasive or noninvasive, and mortality is rare. Despite these advances, the prevalence of stone disease has nearly doubled over the past 15 years, likely secondary to dietary and health trends. The NIDDK recently convened a symposium to assess knowledge and treatment gaps to inform future urinary stone disease research. Reducing the public health burden of urinary stone disease will require key advances in understanding environmental, genetic, and other individual disease determinants; improving secondary prevention; and optimal population health strategies in an increasingly cost conscious care environment. C1 [Scales, Charles D., Jr.] Duke Univ, Duke Clin Res Inst, Sch Med, Durham, NC USA. [Scales, Charles D., Jr.] Duke Univ, Sch Med, Div Urol Surg, Durham, NC USA. [Tasian, Gregory E.] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA. [Tasian, Gregory E.] Univ Penn, Dept Urol, Philadelphia, PA 19104 USA. [Schwaderer, Andrew L.] Nationwide Childrens Hosp, Nephrol Sect, Dept Pediat, Columbus, OH USA. [Goldfarb, David S.] NYU, Sch Med, Div Nephrol, New York, NY USA. [Star, Robert A.; Kirkali, Ziya] Natl Inst Diabet & Digest & Kidney Dis, Div Kidney Urol & Hematol Dis, 6707 Democracy Blvd,Room 627, Bethesda, MD 20892 USA. RP Kirkali, Z (reprint author), Natl Inst Diabet & Digest & Kidney Dis, Div Kidney Urol & Hematol Dis, 6707 Democracy Blvd,Room 627, Bethesda, MD 20892 USA. EM kirkaliz@mail.nih.gov OI Goldfarb, David/0000-0002-9215-1273 FU National Institute on Aging Grants for Early Medical/Surgical Specialists' Transition to Aging Research [1R03AG048130-01]; Dennis W. Jahnigen Career Development Award from the American Geriatric Society; National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [K23DK106428]; NIDDK [1R01DK106286-01]; Rare Kidney Stone Consortium, a part of the National Institutes of Health Rare Diseases Clinical Research Network [U54KD083908]; National Center for Advancing Translational Sciences FX C.D.S. was supported by grant 1R03AG048130-01 from National Institute on Aging Grants for Early Medical/Surgical Specialists' Transition to Aging Research and the Dennis W. Jahnigen Career Development Award from the American Geriatric Society. G.E.T. was supported by grant K23DK106428 from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). A.L.S. was supported by grant 1R01DK106286-01 from the NIDDK. D.S.G. was supported by grant U54KD083908 from the Rare Kidney Stone Consortium, a part of the National Institutes of Health Rare Diseases Clinical Research Network, which was funded by the NIDDK and the National Center for Advancing Translational Sciences. NR 99 TC 6 Z9 6 U1 4 U2 7 PU AMER SOC NEPHROLOGY PI WASHINGTON PA 1725 I ST, NW STE 510, WASHINGTON, DC 20006 USA SN 1555-9041 EI 1555-905X J9 CLIN J AM SOC NEPHRO JI Clin. J. Am. Soc. Nephrol. PD JUL PY 2016 VL 11 IS 7 BP 1305 EP 1312 DI 10.2215/CJN.13251215 PG 8 WC Urology & Nephrology SC Urology & Nephrology GA DQ4TF UT WOS:000379195500023 PM 26964844 ER PT J AU Pham, P Afif, SA Shimoda, M Maeda, K Sakaguchi, N Pedersen, LC Goodman, MF AF Phuong Pham Afif, Samir A. Shimoda, Mayuko Maeda, Kazuhiko Sakaguchi, Nobuo Pedersen, Lars C. Goodman, Myron F. TI Structural analysis of the activation-induced deoxycytidine deaminase required in immunoglobulin diversification SO DNA REPAIR LA English DT Article DE AID X-ray crystal structure; Antibody diversity; IgV somatic hypermutation; Scanning processivity; Human HIGM-2 syndrome ID SINGLE-STRANDED-DNA; INDUCED CYTIDINE DEAMINASE; CLASS-SWITCH RECOMBINATION; APOBEC3G CATALYTIC DOMAIN; HIV-1 VIF-BINDING; CRYSTAL-STRUCTURE; SOMATIC HYPERMUTATION; BIOCHEMICAL-ANALYSIS; FUNCTIONAL IMPLICATIONS; WILD-TYPE AB Activation-induced deoxycytidine deaminase (AID) initiates somatic hypermutation (SHM) and class switch recombination (CSR) by deaminating C -> U during transcription of Ig-variable (V) and Ig-switch (S) region DNA, which is essential to produce high-affinity antibodies. Here we report the crystal structure of a soluble human AID variant at 2.8 angstrom resolution that favors targeting WRC motifs (W = A/T, R = A/G) in vitro, and executes Ig V SHM in Ramos B-cells. A specificity loop extending away from the active site to accommodate two purine bases next to C, differs significantly in sequence, length, and conformation from APOBEC proteins Apo3A and Apo3G, which strongly favor pyrimidines at -1 and -2 positions. Individual amino acid contributions to specificity and processivity were measured in relation to a proposed ssDNA binding cleft. This study provides a structural basis for residue contributions to DNA scanning properties unique to AID, and for disease mutations in human HIGM-2 syndrome. (C) 2016 Elsevier B.V. All rights reserved. C1 [Phuong Pham; Goodman, Myron F.] Univ So Calif, Dept Biol Sci, Los Angeles, CA 90089 USA. [Shimoda, Mayuko] Kumamoto Univ, Grad Sch Med Sci, Dept Immunol, Chuo Ku, 1-1-1 Honjo, Kumamoto 8608556, Japan. [Shimoda, Mayuko; Maeda, Kazuhiko] Osaka Univ, Host Def Lab, Microbial Dis Res Inst, 3-1 Yamada Oka, Suita, Osaka 5650871, Japan. [Shimoda, Mayuko; Maeda, Kazuhiko; Sakaguchi, Nobuo] Osaka Univ, Immunol Frontier Res Ctr, World Premier Int Res Ctr Initiat, 3-1 Yamada Oka, Suita, Osaka 5650871, Japan. [Sakaguchi, Nobuo] Tokyo Metropolitan Inst Med Sci, Setagaya Ku, 2-1-6 Kamikitazawa, Tokyo 1568506, Japan. [Pedersen, Lars C.] NIEHS, Genome Integr & Struct Biol Lab, POB 12233, Res Triangle Pk, NC 27709 USA. [Goodman, Myron F.] Univ So Calif, Dept Chem, Los Angeles, CA 90089 USA. RP Goodman, MF (reprint author), Univ So Calif, Dept Biol Sci, Los Angeles, CA 90089 USA. EM mgoodman@usc.edu FU National Institutes of Health [ES13192, GM21422]; Division of Intramural Research of the National Institute of Environmental Health Sciences [ZIA ES102645]; JSPS [26460580]; US Department of Energy, Office of Science, Office of Basic Energy Sciences [W-31-109-Eng-38] FX We thank Alice Landolph for purification of AIDv and AIDv(Delta 15) proteins and Andrea Moon and Robert Williams for critical reading of the manuscript. This research was supported, in whole or in part, by the National Institutes of Health [ES13192 and GM21422 to M.F.G], the Division of Intramural Research of the National Institute of Environmental Health Sciences [Project number: ZIA ES102645 to L.C.P.] and the JSPS Grant-in-Aid for Scientific Research (C) [26460580 to K.M.]. Use of the Advanced Photon Source was supported by the US Department of Energy, Office of Science, Office of Basic Energy Sciences Contract W-31-109-Eng-38. NR 57 TC 2 Z9 2 U1 1 U2 1 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 1568-7864 EI 1568-7856 J9 DNA REPAIR JI DNA Repair PD JUL PY 2016 VL 43 BP 48 EP 56 DI 10.1016/j.dnarep.2016.05.029 PG 9 WC Genetics & Heredity; Toxicology SC Genetics & Heredity; Toxicology GA DQ3HX UT WOS:000379094500007 PM 27258794 ER PT J AU Sarkar, J Liu, Y AF Sarkar, Jaya Liu, Yie TI Fanconi anemia proteins in telomere maintenance SO DNA REPAIR LA English DT Review DE Telomere maintenance; Fanconi anemia; DNA repair; DNA joint Molecule intermediates ID BONE-MARROW FAILURE; HOLLIDAY JUNCTION RESOLUTION; DNA-REPAIR; MAMMALIAN TELOMERES; GENOME MAINTENANCE; APLASTIC-ANEMIA; SLX4 COMPLEX; HUMAN-CELLS; LENGTH; REPLICATION AB Mammalian chromosome ends are protected by nucleoprotein structures called telomeres. Telomeres ensure genome stability by preventing chromosome termini from being recognized as DNA damage. Telomere length homeostasis is inevitable for telomere maintenance because critical shortening or over lengthening of telomeres may lead to DNA damage response or delay in DNA replication, and hence genome instability. Due to their repetitive DNA sequence, unique architecture, bound shelterin proteins, and high propensity to form alternate/secondary DNA structures, telomeres are like common fragile sites and pose an inherent challenge to the progression of DNA replication, repair, and recombination apparatus. It is conceivable that longer the telomeres are, greater is the severity of such challenges. Recent studies have linked excessively long telomeres with increased tumorigenesis. Here we discuss telomere abnormalities in a rare recessive chromosomal instability disorder called Fanconi Anemia and the role of the Fanconi Anemia pathway in telomere biology. Reports suggest that Fanconi Anemia proteins play a role in maintaining long telomeres, including processing telomeric joint molecule intermediates. We speculate that ablation of the Fanconi Anemia pathway would lead to inadequate aberrant structural barrier resolution at excessively long telomeres, thereby causing replicative burden on the cell. Published by Elsevier B.V. C1 [Sarkar, Jaya; Liu, Yie] NIA, Lab Mol Gerontol, NIH, 251 Bayview Blvd, Baltimore, MD 21044 USA. RP Liu, Y (reprint author), NIA, Lab Mol Gerontol, NIH, 251 Bayview Blvd, Baltimore, MD 21044 USA. EM liuyie@mail.nih.gov FU Intramural Research Program of the National Institutes of Health, National Institute on Aging, United States of America FX This work was supported by the Intramural Research Program of the National Institutes of Health, National Institute on Aging, United States of America. NR 60 TC 2 Z9 2 U1 2 U2 7 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 1568-7864 EI 1568-7856 J9 DNA REPAIR JI DNA Repair PD JUL PY 2016 VL 43 BP 107 EP 112 DI 10.1016/j.dnarep.2016.02.007 PG 6 WC Genetics & Heredity; Toxicology SC Genetics & Heredity; Toxicology GA DQ3HX UT WOS:000379094500013 PM 27118469 ER PT J AU Sun, W Sanderson, PE Zheng, W AF Sun, Wei Sanderson, Philip E. Zheng, Wei TI Drug combination therapy increases successful drug repositioning SO DRUG DISCOVERY TODAY LA English DT Review ID LARGE-SCALE PREDICTION; DE-NOVO DESIGN; RETROSPECTIVE COHORT; MULTITARGET DRUGS; APPROVED DRUGS; HEPATITIS-C; CANCER; POLYPHARMACOLOGY; RESISTANCE; DISEASE AB Repositioning of approved drugs has recently gained new momentum for rapid identification and development of new therapeutics for diseases that lack effective drug treatment. Reported repurposing screens have increased dramatically in number in the past five years. However, many newly identified compounds have low potency; this limits their immediate clinical applications because the known, tolerated plasma drug concentrations are lower than the required therapeutic drug concentrations. Drug combinations of two or more compounds with different mechanisms of action are an alternative approach to increase the success rate of drug repositioning. C1 [Sun, Wei; Sanderson, Philip E.; Zheng, Wei] NIH, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr,MSC 3375, Bethesda, MD 20892 USA. RP Zheng, W (reprint author), NIH, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr,MSC 3375, Bethesda, MD 20892 USA. EM wzheng@mail.nih.gov RI Zheng, Wei/J-8889-2014 OI Zheng, Wei/0000-0003-1034-0757 FU Intramural Research Program of the National Center for Advancing Translational Sciences, National Institutes of Health FX This work was supported by the Intramural Research Program of the National Center for Advancing Translational Sciences, National Institutes of Health. The authors would like to thank DeeAnn Visk for reading and critiquing the manuscript. NR 67 TC 3 Z9 3 U1 12 U2 20 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1359-6446 EI 1878-5832 J9 DRUG DISCOV TODAY JI Drug Discov. Today PD JUL PY 2016 VL 21 IS 7 BP 1189 EP 1195 DI 10.1016/j.drudis.2016.05.015 PG 7 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA DQ3LY UT WOS:000379105000015 PM 27240777 ER PT J AU Cruz-Topete, D Myers, PH Foley, JF Willis, MS Cidlowski, JA AF Cruz-Topete, Diana Myers, Page H. Foley, Julie F. Willis, Monte S. Cidlowski, John A. TI Corticosteroids Are Essential for Maintaining Cardiovascular Function in Male Mice SO ENDOCRINOLOGY LA English DT Article ID PRIMARY ADRENAL INSUFFICIENCY; MINERALOCORTICOID RECEPTOR; GLUCOCORTICOID-RECEPTOR; ADDISONS-DISEASE; HEART-FAILURE; MYOCARDIAL-INFARCTION; IN-VIVO; ALDOSTERONE; RAT; CARDIOMYOCYTES AB Activation of the hypothalamic-pituitary-adrenal axis results in the release of hormones from the adrenal glands, including glucocorticoids and mineralocorticoids. The physiological association between corticosteroids and cardiac disease is becoming increasingly recognized; however, the mechanisms underlying this association are not well understood. To determine the biological effects of corticosteroids on the heart, we investigated the impact of adrenalectomy in C57BL/6 male mice. Animals were adrenalectomized (ADX) at 1 month of age and maintained for 3-6 months after surgery to evaluate the effects of long-term adrenalectomy on cardiac function. Morphological evaluation suggested that ADX mice showed significantly enlarged hearts compared with age-matched intact controls. These changes in morphology correlated with deficits in left ventricular (LV) function and electrocardiogram (ECG) abnormalities in ADX mice. Correlating with these functional defects, gene expression analysis of ADX hearts revealed aberrant expression of a large cohort of genes associated with cardiac hypertrophy and arrhythmia. Combined corticosterone and aldosterone replacement treatment prevented the emergence of cardiac abnormalities in ADX mice, whereas corticosterone replacement prevented the effects of adrenalectomy on LV function but did not block the emergence of ECG alterations. Aldosterone replacement did not preserve the LV function but prevented ECG abnormalities. Together, the data indicate that adrenal glucocorticoids and mineralocorticoids either directly or indirectly have selective effects in the heart and their signaling pathways are essential in maintaining normal cardiac function. C1 [Cruz-Topete, Diana; Cidlowski, John A.] NIEHS, Signal Transduct Lab, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Myers, Page H.] NIEHS, Comparat Med Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Foley, Julie F.] NIEHS, Cellular & Mol Pathol Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Willis, Monte S.] Univ N Carolina, McAllister Heart Inst, Chapel Hill, NC 27514 USA. RP Cidlowski, JA (reprint author), NIEHS, Signal Transduct Lab, NIH, MD F3-07,111 TW Alexander Dr, Res Triangle Pk, NC 27709 USA. EM cidlows1@niehs.nih.gov FU Intramural Research Program of the National Institutes of Health FX This work was supported by the Intramural Research Program of the National Institutes of Health (J.A.C.). NR 38 TC 4 Z9 4 U1 0 U2 0 PU ENDOCRINE SOC PI WASHINGTON PA 2055 L ST NW, SUITE 600, WASHINGTON, DC 20036 USA SN 0013-7227 EI 1945-7170 J9 ENDOCRINOLOGY JI Endocrinology PD JUL PY 2016 VL 157 IS 7 BP 2759 EP 2771 DI 10.1210/en.2015-1604 PG 13 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DQ0GO UT WOS:000378877200018 PM 27219275 ER PT J AU Emond, C DeVito, M Warner, M Eskenazi, B Mocarelli, P Birnbaum, LS AF Emond, C. DeVito, M. Warner, M. Eskenazi, B. Mocarelli, P. Birnbaum, L. S. TI An assessment of dioxin exposure across gestation and lactation using a PBPK model and new data from Seveso SO ENVIRONMENT INTERNATIONAL LA English DT Article DE PBPK; Pharmacokinetics; Dioxin; TCDD; Developmental ID SPRAGUE-DAWLEY RATS; BREAST-MILK; PHARMACOKINETIC MODEL; WOMENS HEALTH; 2,3,7,8-TETRACHLORODIBENZO-P-DIOXIN TCDD; CHLORINATED CONTAMINANTS; BODY BURDEN; AGE; CHEMICALS; CYP1A2 AB On July 10, 1976, an explosion at a chemical plant in Seveso, Italy, released up to 30 kg of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-the most potent dioxin congener. Twenty years later, the Seveso Women's Health Study (SWHS) initiated a follow-up assessment of a cohort of female Seveso residents. Researchers collected serial blood, measured for TCDD levels, and recorded information about the women's medical history after the explosion. The study's aims were to: 1) modify the human PBPK model for TCDD (Emond et al. 2004; Emond et al. 2005; NCEA-USEPA, 2010) to include repetitive gestation and lactation; 2) simulate TCDD blood concentrations during different life stages including pregnancy and lactation, under different exposure scenarios; and 3) use this PBPK model to compare the influence of gestation and lactation on elimination of TCDD. After optimization of the model, it was assessed using data from the SWHS cohort. The 23 women in Subcohort A, were 4-39 years old and in Subcohort B, the 18 women were 3-17 years old when the explosion occurred. The model accurately predicted the blood concentrations during the 20 years post-exposure, including periods of pregnancy and lactation. The model was also used to analyze the contribution of gestation and lactation to the mother's elimination of TCDD. The results suggest that gestation and lactation do not significantly impact TCDD blood elimination. Future efforts will focus on using additional data to evaluate the PBPK model and improving the mathematical descriptions of lactation and multiple gestations. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Emond, C.] BioSimulat Consulting Inc, Newark, DE USA. [Emond, C.] Univ Montreal, Dept Environm & Occupat Hlth, Quebec City, PQ, Canada. [DeVito, M.] NIEHS, Natl Toxicol Program, Res Triangle Pk, NC 27709 USA. [Warner, M.; Eskenazi, B.] Univ Calif Berkeley, Sch Publ Hlth, Berkeley, CA 94720 USA. [Mocarelli, P.] Univ Milano Bicocca, Sch Med, Hosp Desio, Dept Lab Med, Milan, Italy. [Birnbaum, L. S.] NCI, Res Triangle Pk, NC USA. RP Emond, C (reprint author), Univ Montreal, Dept Environm & Occupat Hlth, Sch Publ Hlth, Bur 4105, 2375 Chemin Cote Ste Catherine, Montreal, PQ H3T 1A8, Canada. EM claude.Emond@umontreal.ca FU NIEHS; NCI [HHSN261201500081P]; National Institutes of Health [R01 ES07171, F06 TW02075-01]; U.S. Environmental Protection Agency [R82471]; National Institute of Environmental Health Sciences [2P30-ESO01896-17]; Regione Lombardia and Fondazione Lombardia Ambiente, Milan, Italy [2896] FX This work was funded in part by the intramural research programs of the NIEHS and the NCI (contract # HHSN261201500081P). This study was also supported by grant numbers R01 ES07171 and F06 TW02075-01 from the National Institutes of Health, R82471 from the U.S. Environmental Protection Agency, 2P30-ESO01896-17 from the National Institute of Environmental Health Sciences, and #2896 from Regione Lombardia and Fondazione Lombardia Ambiente, Milan, Italy. No disclaimer required. NR 51 TC 0 Z9 0 U1 7 U2 11 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-4120 EI 1873-6750 J9 ENVIRON INT JI Environ. Int. PD JUL-AUG PY 2016 VL 92-93 BP 23 EP 32 DI 10.1016/j.envint.2016.03.015 PG 10 WC Environmental Sciences SC Environmental Sciences & Ecology GA DQ1HI UT WOS:000378951700003 PM 27045706 ER PT J AU Whaley, P Halsall, C Agerstrand, M Aiassa, E Benford, D Bilotta, G Coggon, D Collins, C Dempsey, C Duarte-Davidson, R FitzGerald, R Galay-Burgos, M Gee, D Hoffmann, S Lam, J Lasserson, T Levy, L Lipworth, S Ross, SM Martin, O Meads, C Meyer-Baron, M Miller, J Pease, C Rooney, A Sapiets, A Stewart, G Taylor, D AF Whaley, Paul Halsall, Crispin Agerstrand, Marlene Aiassa, Elisa Benford, Diane Bilotta, Gary Coggon, David Collins, Chris Dempsey, Ciara Duarte-Davidson, Raquel FitzGerald, Rex Galay-Burgos, Malyka Gee, David Hoffmann, Sebastian Lam, Juleen Lasserson, Toby Levy, Len Lipworth, Steven Ross, Sarah Mackenzie Martin, Olwenn Meads, Catherine Meyer-Baron, Monika Miller, James Pease, Camilla Rooney, Andrew Sapiets, Alison Stewart, Gavin Taylor, David TI Implementing systematic review techniques in chemical risk assessment: Challenges, opportunities and recommendations SO ENVIRONMENT INTERNATIONAL LA English DT Review DE Risk assessment; Research synthesis; Environment; Chemicals; Systematic review; Toxicology ID ENVIRONMENTAL-HEALTH SCIENCE; EVIDENCE-BASED TOXICOLOGY; METAANALYSIS; ECOLOGY; WASTE AB Systematic review (SR) is a rigorous, protocol-driven approach designed to minimise error and bias when summarising the body of research evidence relevant to a specific scientific question. Taking as a comparator the use of SR in synthesising research in healthcare, we argue that SR methods could also pave the way for a "step change" in the transparency, objectivity and communication of chemical risk assessments (CRA) in Europe and elsewhere. We suggest that current controversies around the safety of certain chemicals are partly due to limitations in current CRA procedures which have contributed to ambiguity about the health risks posed by these substances. We present an overview of how SR methods can be applied to the assessment of risks from chemicals, and indicate how challenges in adapting SR methods from healthcare research to the CRA context might be overcome. Regarding the latter, we report the outcomes from a workshop exploring how to increase uptake of SR methods, attended by experts representing a wide range of fields related to chemical toxicology, risk analysis and SR Priorities which were identified include: the conduct of CRA-focused prototype SRs; the development of a recognised standard of reporting and conduct for SRs in toxicology and CRA; and establishing a network to facilitate research, communication and training in SR methods. We see this paper as a milestone in the creation of a research climate that fosters communication between experts in CRA and SR and facilitates wider uptake of SR methods into CRA. (C) 2015 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). C1 [Whaley, Paul; Halsall, Crispin] Univ Lancaster, Lancaster Environm Ctr, Lancaster LA1 4YQ, England. [Agerstrand, Marlene] Stockholm Univ, Dept Environm Sci & Analyt Chem, SE-10691 Stockholm, Sweden. [Benford, Diane] Food Stand Agcy, Aviat House,125 Kingsway, London WC2B 6NH, England. [Aiassa, Elisa] European Food Safety Author, Assessment & Methodol Support Unit, Via Carlo Magno 1-A, I-43126 Parma, Italy. [Bilotta, Gary] Univ Brighton, Aquat Res Ctr, Lewes Rd, Brighton BN2 4GJ, E Sussex, England. [Coggon, David] Univ Southampton, Southampton Gen Hosp, MRC Lifecourse Epidemiol Unit, Southampton SO16 6YD, Hants, England. [Duarte-Davidson, Raquel] Publ Hlth England, Ctr Radiat Chem & Environm Hazards, Harwell Sci & Innovat Campus, Didcot OX11 0RQ, Oxon, England. [FitzGerald, Rex] Univ Basel, Swiss Ctr Appl Human Toxicol, Missionsstr 64, CH-4055 Basel, Switzerland. [Gee, David; Martin, Olwenn] Brunel Univ London, Inst Environm Hlth & Soc, Kingston Lane, Uxbridge UB8 3PH, Middx, England. [Hoffmann, Sebastian] EBTC, Stembergring 15, D-33106 Paderborn, Germany. [Lam, Juleen] Univ Calif San Francisco, Program Reprod Hlth & Environm, San Francisco, CA 94143 USA. [Lasserson, Toby] Cochrahe Cent Execut, Cochrane Editorial Unit, St Albans House,57-9 Haymarket, London SW1Y 4QX, England. [Levy, Len] Cranfield Univ, Inst Environm Hlth Risks and Futures, Sch Energy Environm & Agrifood, Cranfield MK43 0AL, Beds, England. [Dempsey, Ciara; Lipworth, Steven; Taylor, David] Royal Soc Chem, Burlington House, London W1J 0BA, England. [Ross, Sarah Mackenzie] UCL, Res Dept Clin Educ & Hlth Psychol, Gower St, London WC1E 6BT, England. [Meads, Catherine] Brunel Univ London, Hlth Econ Res Grp, Kingston Lane, Uxbridge UB8 3PH, Middx, England. [Meyer-Baron, Monika] Leibniz Res Ctr Working Environm & Human Factors, Neurobehav Toxicol, Ardeystr 67, D-44139 Dortmund, Germany. [Miller, James] Ctr Ecol & Hydrol, Wallingford 0X10 8BB, Oxon, England. [Pease, Camilla] Ramboll Environ, 1 Broad Gate, Leeds LS1 8EQ, W Yorkshire, England. [Rooney, Andrew] Natl Inst Environm Sci NIEHS, DHHS, NIH, Res Triangle Pk, NC USA. [Sapiets, Alison] Syngenta Ltd, Jealotts Hill Int Res Ctr, Bracknell RG42 6EY, Berks, England. [Stewart, Gavin] Univ Newcastle Tyne, Ctr Rural Econ, Sch Agr Food & Rural Dev, Newcastle Upon Tyne, Tyne & Wear, England. [Collins, Chris] Univ Reading, Dept Geog & Environm Sci, Sch Archaeol Geog & Environm Sci, Reading RG6 6DW, Berks, England. [Galay-Burgos, Malyka] ECETOC, Ave Edmond Van Nieuwenhuyse 2 Bte 8, B-1160 Brussels, Belgium. RP Halsall, C (reprint author), Univ Lancaster, Lancaster Environm Ctr, Lancaster LA1 4YQ, England. EM c.halsall@lancaster.ac.uk OI Halsall, Crispin/0000-0001-8007-9756; miller, james/0000-0002-7705-8898; Whaley, Paul/0000-0003-4021-0785; Hoffmann, Sebastian/0000-0002-3214-7678 FU Economic & Social Science Research Council grant "Radical Futures in Social Sciences" (Lancaster University); Lancaster Environment Centre; Lancaster University's Faculty of Science Technology FX Funding for the workshop was provided through the Economic & Social Science Research Council grant "Radical Futures in Social Sciences" (Lancaster University) and Lancaster Environment Centre. CH, PW, AR are grateful to Lancaster University's Faculty of Science & Technology "Distinguished Visitors" funding programme. The Royal Society of Chemistry is acknowledged for generously providing a meeting room, refreshments and facilitating the workshop proceedings. The PhD studentship of PW is, partly funded through Lancaster Environment Centre. The contribution of non-author workshop participants to the development of the manuscript is also greatly appreciated. NR 58 TC 6 Z9 6 U1 8 U2 14 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-4120 EI 1873-6750 J9 ENVIRON INT JI Environ. Int. PD JUL-AUG PY 2016 VL 92-93 BP 556 EP 564 DI 10.1016/j.envint.2015.11.002 PG 9 WC Environmental Sciences SC Environmental Sciences & Ecology GA DQ1HI UT WOS:000378951700059 PM 26687863 ER PT J AU Thayer, KA Schunemann, HJ AF Thayer, Kristina A. Schunemann, Holger J. TI Using GRADE to respond to health questions with different levels of urgency Preface SO ENVIRONMENT INTERNATIONAL LA English DT Editorial Material ID EVIDENCE-BASED MEDICINE; FETAL-GROWTH; GUIDELINES; QUALITY AB Increasing interest exists in applying the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach to environmental health evidence. While ideally applied to evidence synthesized in systematic reviews and corresponding summary tables, such as evidence profiles, GRADE's correct application requires that "the evidence that was assessed and the methods that were used to identify and appraise that evidence should be clearly described. In this article, we suggest that GRADE could be applied to evidence assembled from narrative reviews, modelled (indirect) evidence, or evidence assembled as part of a rapid response, if the underlying judgments about the certainty in this evidence are based on the relevant GRADE domains and provided transparently. Health questions that require assessing the certainty in a body of evidence to provide trustworthy answers may range from hours, to days or weeks, to a few months to scenarios that allow assessing evidence without short-term time pressures. Time frames of emergent, urgent or rapid evidence assessments will often require relying on existing summaries or rapidly compiling the available evidence and making assessments. Even without available full systematic reviews, expressing the certainty in the evidence can provide useful guidance for users of the evidence and those who evaluate certainty in effects. The ratings also help clarifying disagreement between organizations tackling similar questions about the evidence. Using the structured GRADE domains, narrative or other summaries of the evidence can be presented transparently. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Thayer, Kristina A.] Natl Inst Environm Hlth Sci, Div Natl Toxicol Program, NIH, Dept Hlth & Human Serv, POB 12233,Mail Drop K2-02, Res Triangle Pk, NC 27709 USA. [Schunemann, Holger J.] McMaster Univ, Dept Clin Epidemiol & Biostat, Dept Med, Hlth Sci Ctr, Room 2C14,1280 Main St West, Hamilton, ON L8S 4K1, Canada. RP Schunemann, HJ (reprint author), McMaster Univ, Dept Clin Epidemiol & Biostat, Dept Med, Hlth Sci Ctr, Room 2C14,1280 Main St West, Hamilton, ON L8S 4K1, Canada. EM thayer@niehs.nih.gov; schuneh@mcmaster.ca NR 28 TC 1 Z9 1 U1 0 U2 2 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-4120 EI 1873-6750 J9 ENVIRON INT JI Environ. Int. PD JUL-AUG PY 2016 VL 92-93 BP 585 EP 589 DI 10.1016/j.envint.2016.03.027 PG 5 WC Environmental Sciences SC Environmental Sciences & Ecology GA DQ1HI UT WOS:000378951700064 PM 27126781 ER PT J AU Cooper, GS Lunn, RM Agerstrand, M Glenn, BS Kraft, AD Luke, AM Ratcliffe, JM AF Cooper, Glinda S. Lunn, Ruth M. Agerstrand, Marlene Glenn, Barbara S. Kraft, Andrew D. Luke, April M. Ratcliffe, Jennifer M. TI Study sensitivity: Evaluating the ability to detect effects in systematic reviews of chemical exposures SO ENVIRONMENT INTERNATIONAL LA English DT Review DE Systematic review; Validity; Bias; Environmental health; Chemical hazard assessment; Study sensitivity ID ENVIRONMENTAL-HEALTH SCIENCE; SPONTANEOUS-ABORTIONS; COHORT; RISK; BIAS AB A critical step in systematic reviews of potential health hazards is the structured evaluation of the strengths and weaknesses of the included studies; risk of bias is a term often used to represent this process, specifically with respect to the evaluation of systematic errors that can lead to inaccurate (biased) results (i.e. focusing on internal validity). Systematic review methods developed in the clinical medicine arena have been adapted for use in evaluating environmental health hazards; this expansion raises questions about the scope of risk of bias tools and the extent to which they capture the elements that can affect the interpretation of results from environmental and occupational epidemiology studies and in vivo animal toxicology studies, (the studies typically available for assessment of risk of chemicals). One such element, described here as "sensitivity", is a measure of the ability of a study to detect a true effect or hazard. This concept is similar to the concept of the sensitivity of an assay; an insensitive study may fail to show a difference that truly exists, leading to a false conclusion of no effect Factors relating to study sensitivity should be evaluated in a systematic manner with the same rigor as the evaluation of other elements within a risk of bias framework. We discuss the importance of this component for the interpretation of individual studies, examine approaches proposed or in use to address it, and describe how it relates to other evaluation components. The evaluation domains contained within a risk of bias tool can include, or can be modified to include, some features relating to study sensitivity; the explicit inclusion of these sensitivity criteria with the same rigor and at the same stage of study evaluation as other bias-related criteria can improve the evaluation process. In some cases, these and other features may be better addressed through a separate sensitivity domain. The combined evaluation of risk of bias and sensitivity can be used to identify the most informative studies, to evaluate the confidence of the findings from individual studies and to identify those study elements that may help to explain heterogeneity across the body of literature. (C) 2016 Published by Elsevier Ltd. C1 [Cooper, Glinda S.; Glenn, Barbara S.; Kraft, Andrew D.; Luke, April M.] US EPA, Natl Ctr Environm Assessment, Off Res & Dev, Washington, DC 20460 USA. [Lunn, Ruth M.] NIEHS, Off Report Carcinogens, Div Natl Toxicol Program, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. [Agerstrand, Marlene] Stockholm Univ, Dept Environm Sci & Analyt Chem ACES, S-10691 Stockholm, Sweden. [Ratcliffe, Jennifer M.] ILS, Res Triangle Pk, NC USA. [Cooper, Glinda S.] One Potomac Yard South Bldg S-11342, Arlington, VA 22202 USA. RP Cooper, GS (reprint author), US EPA, 1200 Penn Ave NW,8601P, Washington, DC 20460 USA.; Cooper, GS (reprint author), One Potomac Yard South Bldg S-11342, Arlington, VA 22202 USA. EM cooper.glinda@epa.gov FU Intramural NIH HHS [Z99 ES999999] NR 24 TC 1 Z9 1 U1 4 U2 9 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-4120 EI 1873-6750 J9 ENVIRON INT JI Environ. Int. PD JUL-AUG PY 2016 VL 92-93 BP 605 EP 610 DI 10.1016/j.envint.2016.03.017 PG 6 WC Environmental Sciences SC Environmental Sciences & Ecology GA DQ1HI UT WOS:000378951700067 PM 27156196 ER PT J AU Morgan, RL Thayer, KA Bero, L Bruce, N Falck-Ytter, Y Ghersi, D Guyatt, G Hooijmans, C Langendam, M Mandrioli, D Mustafa, RA Rehfuess, EA Rooney, AA Shea, B Silbergeld, EK Sutton, P Wolfe, MS Woodruff, TJ Verbeek, JH Holloway, AC Santesso, N Schunemann, HJ AF Morgan, Rebecca L. Thayer, Kristina A. Bero, Lisa Bruce, Nigel Falck-Ytter, Yngve Ghersi, Davina Guyatt, Gordon Hooijmans, Carlijn Langendam, Miranda Mandrioli, Daniele Mustafa, Reem A. Rehfuess, Eva A. Rooney, Andrew A. Shea, Beverley Silbergeld, Ellen K. Sutton, Patrice Wolfe, Mary S. Woodruff, Tracey J. Verbeek, Jos H. Holloway, Alison C. Santesso, Nancy Schunemann, Holger J. TI GRADE: Assessing the quality of evidence in environmental and occupational health SO ENVIRONMENT INTERNATIONAL LA English DT Article DE GRADE; Evidence-based; Risk of bias; Environmental health; Risk assessment; Recommendations ID EVIDENCE-BASED MEDICINE; FETAL-GROWTH; SHIFT WORK; RECOMMENDATIONS; RISK; STRENGTH; METAANALYSIS; CONFIDENCE; STRATEGIES; PROGRAM AB There is high demand in environmental health for adoption of a structured process that evaluates and integrates evidence while making decisions and recommendations transparent. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework holds promise to address this demand. For over a decade, GRADE has been applied successfully to areas of clinical medicine, public health, and health policy, but experience with GRADE in environmental" and occupationathealth is just beginning. Environmental and occupational health questions focus on understanding whether an exposure is a potential health hazard or risk, assessing the exposure to understand the extent and magnitude of risk, and exploring interventions to mitigate exposure or risk. Although GRADE offers many advantages, including its flexibility and methodological rigor, there are features of the different sources of evidence used in environmental and occupational health that will require further consideration to assess the need for method refinement. An issue that requires particular attention is the evaluation and integration of evidence from human, animal, in vitro, and in silico (computer modeling) studies when determining whether an environmental factor represents a potential health hazard or risk. Assessment of the hazard of exposures can produce analyses for use in the GRADE evidence-to-decision (EtD) framework to inform risk-management decisions about removing harmful exposures or mitigating risks. The EtD framework allows for grading the strength of the recommendations based on judgments of the certainty in the evidence (also known as quality of the evidence), as well as other factors that inform recommendations such as social values and preferences, resource implications, and benefits. GRADE represents an untapped opportunity for environmental and occupational health to make evidence-based recommendations in a systematic and transparent manner. The objectives of this article are to provide an overview of GRADE, discuss GRADE's applicability to environmental health, and identify priority areas for method assessment and development. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Morgan, Rebecca L.; Guyatt, Gordon; Mustafa, Reem A.; Santesso, Nancy; Schunemann, Holger J.] McMaster Univ, Hlth Sci Ctr, Dept Clin Epidemiol & Biostat, Room 2C14,1280 Main St West, Hamilton, ON L8S 4K1, Canada. [Thayer, Kristina A.; Rooney, Andrew A.; Wolfe, Mary S.] NIEHS, Div Natl Toxicol Program, NIH, Dept Hlth & Human Serv, POB 12233,Mail Drop K2-02, Res Triangle Pk, NC 27709 USA. [Bero, Lisa] Univ Sydney, Charles Perkins Ctr, The Hub, D17,6th Floor, Sydney, NSW 2006, Australia. [Bruce, Nigel] Univ Liverpool, Dept Publ Hlth & Policy, Liverpool L69 3GB, Merseyside, England. [Falck-Ytter, Yngve] Case Western Reserve Univ, Div Gastroenterol, 10701 East Blvd, Cleveland, OH 44106 USA. [Falck-Ytter, Yngve] Louis Stokes VA Med Ctr, 10701 East Blvd, Cleveland, OH 44106 USA. [Ghersi, Davina] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia. [Ghersi, Davina] Natl Hlth & Med Res Council, 16 Marcus Clarke St, Canberra, ACT 2601, Australia. [Hooijmans, Carlijn] Radboud Univ Nijmegen, Med Ctr, Dept SYRCLE, Geert Grootepl Noord 29,Route 231, NL-6525 GA Nijmegen, Netherlands. [Hooijmans, Carlijn] Radboud Univ Nijmegen, Med Ctr, Dept Anesthesiol, Geert Grootepl Noord 29,Route 231, NL-6525 GA Nijmegen, Netherlands. [Langendam, Miranda] Univ Amsterdam, Acad Med Ctr, Dept Clin Epidemiol Biostat & Bioinformat, Room J1B-211,POB 22660, NL-1100 DD Amsterdam, Netherlands. [Mandrioli, Daniele] Ramazzini Inst, Cesare Maltohi Canc Res Ctr, Via Saliceto 3,POB 40133, Bologna, Italy. [Mustafa, Reem A.] Univ Missouri Kansas City, Sch Med, Dept Med Nephrol & Biomed, M4-303,2411 Holmes St, Kansas City, MO 64108 USA. [Mustafa, Reem A.] Univ Missouri Kansas City, Sch Med, Dept Hlth Informat, M4-303,2411 Holmes St, Kansas City, MO 64108 USA. [Rehfuess, Eva A.] Univ Munich, Inst Med Informat Biometry & Epidemiol, Marchioninistr 15, D-81377 Munich, Germany. [Shea, Beverley] Univ Ottawa, Bruyere Res Inst, Ottawa, ON, Canada. [Silbergeld, Ellen K.] Univ Ottawa, Ottawa Hosp, Res Inst, Ottawa, ON, Canada. [Sutton, Patrice; Woodruff, Tracey J.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Environm Hlth Sci, 615 N Wolfe St,E6644, Baltimore, MD 21205 USA. [Verbeek, Jos H.] Univ Calif San Francisco, Program Reprod Hlth & Environm, 550 16th St, San Francisco, CA 94143 USA. [Holloway, Alison C.] Finnish Inst Occupat Hlth, POB 310, Kuopio 70101, Finland. [Schunemann, Holger J.] McMaster Univ, Dept Med, Hlth Sci Ctr, Room 2C14,1280 Main St West, Hamilton, ON L8S 4K1, Canada. RP Schunemann, HJ (reprint author), McMaster Univ, Hlth Sci Ctr, Dept Clin Epidemiol & Biostat, Room 2C14,1280 Main St West, Hamilton, ON L8S 4K1, Canada. EM morganrl@mcmaster.ca; thayer@niehs.nih.gov; lisa.bero@sydney.edu.au; ngb@liv.ac.uk; Yngve.Falck-Ytter@case.edu; davina.ghersi@nhmrc.gov.au; guyatt@mcmaster.ca; Carlijn.Hooijmans@radboudumc.nl; m.w.langendam@amc.uva.nl; mandriolid@ramazzini.it; ramustafa@gmail.com; rehfuess@ibe.med.uni-muenchen.de; andrew.rooney@nih.gov; bevshea@uottawa.ca; esilber2@jhu.edu; patrice.sutton@ucsf.edu; wolfe@niehs.nih.gov; tracey.woodrfuff@ucsf.edu; jos.Verbeek@ttl.fi; hollow@mcmaster.ca; santesna@mcmaster.ca; schuneha@mcmaster.ca OI Hooijmans, Carlijn R/0000-0001-6435-5714 FU Intramural Research Program of the National Institute of Environmental Health Sciences; MacGRADE center at the McMaster University; Natural Sciences and Engineering Research Council of Canada; Australia's National Health and Medical Research Council; Clarence Heller Foundation [A123547]; Passport Foundation; Forsythia Foundation; National Institute of Environmental Health Sciences [ES018135, ESO22841]; U.S. EPA STAR [RD83467801, RD83543301] FX This research was supported by the Intramural Research Program of the National Institute of Environmental Health Sciences and the MacGRADE center at the McMaster University. The contribution of AH was supported by the Natural Sciences and Engineering Research Council of Canada. The contribution of DG was supported by Australia's National Health and Medical Research Council. The contribution of UCSF Program on Reproductive Health and the Environment co-authors (TW and PS.) to this research was supported by the Clarence Heller Foundation (A123547), the Passport Foundation, the Forsythia Foundation, the National Institute of Environmental Health Sciences (grants ES018135 and ESO22841), and U.S. EPA STAR grants (RD83467801 and RD83543301). The authors would like to acknowledge the contributions of Elisa Aiassa and Annette Martine Pruss-Ustun as members of the GRADE Environmental Health Project Group. NR 72 TC 7 Z9 7 U1 3 U2 5 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-4120 EI 1873-6750 J9 ENVIRON INT JI Environ. Int. PD JUL-AUG PY 2016 VL 92-93 BP 611 EP 616 DI 10.1016/j.envint.2016.01.004 PG 6 WC Environmental Sciences SC Environmental Sciences & Ecology GA DQ1HI UT WOS:000378951700068 PM 26827182 ER PT J AU Rooney, AA Cooper, GS Jahnke, GD Lam, J Morgan, RL Boyles, AL Ratcliffe, JM Kraft, AD Schunemann, HJ Schwingl, P Walker, TD Thayer, KA Lunn, RM AF Rooney, Andrew A. Cooper, Glinda S. Jahnke, Gloria D. Lam, Juleen Morgan, Rebecca L. Boyles, Abee L. Ratcliffe, Jennifer M. Kraft, Andrew D. Schunemann, Holger J. Schwingl, Pamela Walker, Teneille D. Thayer, Kristina A. Lunn, Ruth M. TI How credible are the study results? Evaluating and applying internal validity tools to literature-based assessments of environmental health hazards SO ENVIRONMENT INTERNATIONAL LA English DT Article DE Risk of bias; Internal validity; Systematic review; Environmental health; Hazard assessment ID INDUSTRY SPONSORSHIP; EVALUATION CRITERIA; RISK-ASSESSMENT; OF-INTEREST; QUALITY; METHODOLOGY; CONCLUSIONS; CAUSATION; EXPOSURE; SCIENCE AB Environmental health hazard assessments are routinely relied upon for public health decision-making. The evidence base used in these assessments is typically developed from a collection of diverse sources of information of varying quality. It is critical that literature-based evaluations consider the credibility of individual studies used to reach conclusions through consistent, transparent and accepted methods. Systematic review procedures address study credibility by assessing internal validity or "risk of bias" the assessment of whether the design and conduct of a study compromised the credibility of the link between exposure/intervention and outcome. This paper describes the commonalities and differences in risk-of-bias methods developed or used by five groups that conduct or provide methodological input for performing environmental health hazard assessments: the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group, the Navigation Guide, the National Toxicology Program's (NTP) Office of Health Assessment and Translation (OHAT) and Office of the Report on Carcinogens (ORoC), and the Integrated Risk Information System of the U.S. Environmental Protection Agency (EPA-IRIS). Each of these groups have been developing and applying rigorous assessment methods for integrating across a heterogeneous collection of human and animal studies to inform conclusions on potential-environmental health hazards. There is substantial consistency across the groups in the consideration of risk-of-bias issues or "domains' for assessing observational human studies. There is a similar overlap in terms of domains addressed for animal studies; however, the groups differ in the relative emphasis placed on-different aspects of risk of bias. Future directions for the continued harmonization and improvement of these methods are also discussed. Published by Elsevier Ltd. C1 [Rooney, Andrew A.; Boyles, Abee L.; Thayer, Kristina A.] NIEHS, Off Hlth Assessment & Translat, Div Natl Toxicol Program, NIH, Res Triangle Pk, NC 27560 USA. [Cooper, Glinda S.; Kraft, Andrew D.; Walker, Teneille D.] US EPA, Natl Ctr Environm Assessment, Off Res & Dev, Washington, DC 20460 USA. [Jahnke, Gloria D.; Lunn, Ruth M.] NIEHS, Off Report Carcinogens, Div Natl Toxicol Program, NIH, Res Triangle Pk, NC 27560 USA. [Lam, Juleen] Univ Calif San Francisco, Program Reprod Hlth & Environm, San Francisco, CA 94143 USA. [Morgan, Rebecca L.; Schunemann, Holger J.] McMaster Univ, Dept Clin Epidemiol & Biostat, Hamilton, ON, Canada. [Ratcliffe, Jennifer M.; Schwingl, Pamela] ILS, Morrisville, NC USA. RP Lunn, RM (reprint author), NIEHS, RTP, POB 12233,Mail Drop K2-04,NC 2770,530 Davis Dr, Morrisville, NC 27560 USA. EM lunn@niehs.nih.gov OI Boyles, Abee/0000-0002-8711-2077 FU Intramural NIH HHS [Z99 ES999999] NR 53 TC 3 Z9 3 U1 6 U2 9 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0160-4120 EI 1873-6750 J9 ENVIRON INT JI Environ. Int. PD JUL-AUG PY 2016 VL 92-93 BP 617 EP 629 DI 10.1016/j.envint.2016.01.005 PG 13 WC Environmental Sciences SC Environmental Sciences & Ecology GA DQ1HI UT WOS:000378951700069 PM 26857180 ER PT J AU Nordestgaard, BG Langsted, A Mora, S Kolovou, G Baum, H Bruckert, E Watts, GF Sypniewska, G Wiklund, O Boren, J Chapman, MJ Cobbaert, C Descamps, OS von Eckardstein, A Kamstrup, PR Pulkki, K Kronenberg, F Remaley, AT Rifai, N Ros, E Langlois, M AF Nordestgaard, Borge G. Langsted, Anne Mora, Samia Kolovou, Genovefa Baum, Hannsjoerg Bruckert, Eric Watts, Gerald F. Sypniewska, Grazyna Wiklund, Olov Boren, Jan Chapman, M. John Cobbaert, Christa Descamps, Olivier S. von Eckardstein, Arnold Kamstrup, Pia R. Pulkki, Kari Kronenberg, Florian Remaley, Alan T. Rifai, Nader Ros, Emilio Langlois, Michel CA European Atherosclerosis Soc EAS European Federation Clinical Chem TI Fasting is not routinely required for determination of a lipid profile: clinical and laboratory implications including flagging at desirable concentration cut-points-a joint consensus statement from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Medicine SO EUROPEAN HEART JOURNAL LA English DT Article DE Lipids; Lipoproteins; Cardiovascular disease; Stroke; Reference values; Normal values ID DENSITY-LIPOPROTEIN CHOLESTEROL; ISCHEMIC-HEART-DISEASE; GENERAL-POPULATION; FAMILIAL HYPERCHOLESTEROLEMIA; NONFASTING TRIGLYCERIDES; CARDIOVASCULAR-DISEASE; ELEVATED LIPOPROTEIN(A); MYOCARDIAL-INFARCTION; REMNANT CHOLESTEROL; RISK-FACTOR AB Aims To critically evaluate the clinical implications of the use of non-fasting rather than fasting lipid profiles and to provide guidance for the laboratory reporting of abnormal non-fasting or fasting lipid profiles. Methods and results Extensive observational data, in which random non-fasting lipid profiles have been compared with those determined under fasting conditions, indicate that the maximal mean changes at 1-6 h after habitual meals are not clinically significant [+0.3 mmol/L (26 mg/dL) for triglycerides; -0.2 mmol/L (8 mg/dL) for total cholesterol; -0.2 mmol/L (8 mg/dL) for LDL cholesterol; +0.2 mmol/L (8 mg/dL) for calculated remnant cholesterol; -0.2 mmol/L (8 mg/dL) for calculated non-HDL cholesterol]; concentrations of HDL cholesterol, apolipoprotein A1, apolipoprotein B, and lipoprotein( a) are not affected by fasting/non-fasting status. In addition, non-fasting and fasting concentrations vary similarly over time and are comparable in the prediction of cardiovascular disease. To improve patient compliance with lipid testing, we therefore recommend the routine use of non-fasting lipid profiles, while fasting sampling may be considered when non-fasting triglycerides >5 mmol/L (440 mg/dL). For non-fasting samples, laboratory reports should flag abnormal concentrations as triglycerides >= 2 mmol/L (175 mg/dL), total cholesterol >= 5 mmol/L (190 mg/dL), LDL cholesterol >= 3 mmol/L (115 mg/dL), calculated remnant cholesterol >= 0.9 mmol/L (35 mg/dL), calculated non-HDL cholesterol >= 3.9 mmol/L (150 mg/dL), HDL cholesterol <= 1 mmol/L (40 mg/dL), apolipoprotein A1 <= 1.25 g/L (125 mg/dL), apolipoprotein B >= 1.0 g/L (100 mg/dL), and lipoprotein(a) >= 50 mg/dL (80th percentile); for fasting samples, abnormal concentrations correspond to triglycerides >= 1.7 mmol/L (150 mg/dL). Life-threatening concentrations require separate referral when triglycerides >10 mmol/L (880 mg/dL) for the risk of pancreatitis, LDL cholesterol >13 mmol/L (500 mg/dL) for homozygous familial hypercholesterolaemia, LDL cholesterol >5 mmol/L (190 mg/dL) for heterozygous familial hypercholesterolaemia, and lipoprotein(a) >150 mg/dL (99th percentile) for very high cardiovascular risk. Conclusion We recommend that non-fasting blood samples be routinely used for the assessment of plasma lipid profiles. Laboratory reports should flag abnormal values on the basis of desirable concentration cut-points. Non-fasting and fasting measurements should be complementary but not mutually exclusive. C1 [Nordestgaard, Borge G.; Langsted, Anne; Kamstrup, Pia R.] Univ Copenhagen, Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, DK-2730 Herlev, Denmark. [Mora, Samia] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Prevent & Cardiovasc Med, Boston, MA 02115 USA. [Kolovou, Genovefa] Onassis Cardiac Surg Ctr, Dept Cardiol, Athens, Greece. [Baum, Hannsjoerg] Reg Kliniken Holding RKH GmbH, Inst Lab Med Blutdepot & Krankenhaushygiene, Ludwigsburg, Germany. [Bruckert, Eric] Pitie Salpetriere Univ Hosp, Paris, France. [Watts, Gerald F.] Univ Western Australia, Perth, WA 6009, Australia. [Sypniewska, Grazyna] NC Univ, Coll Med, Dept Lab Med, Bydgoszcz, Poland. [Wiklund, Olov; Boren, Jan] Sahlgrens Univ Hosp, Gothenburg, Sweden. [Chapman, M. John] Pitie Salpetriere Univ Hosp, INSERM, U939, Paris, France. [Cobbaert, Christa] Leiden Univ, Med Ctr, Dept Clin Chem & Lab Med, Leiden, Netherlands. [Descamps, Olivier S.] Hop Jolimont, Haine St Paul, Belgium. [von Eckardstein, Arnold] Univ Zurich Hosp, Inst Clin Chem, CH-8091 Zurich, Switzerland. [Pulkki, Kari] Univ Eastern Finland, Dept Clin Chem, Kuopio, Finland. [Kronenberg, Florian] Med Univ Innsbruck, Div Genet Epidemiol, Dept Med Genet Mol & Clin Pharmacol, A-6020 Innsbruck, Austria. [Remaley, Alan T.] NHLBI, Lipoprotein Metab Sect, Cardiovasc Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Rifai, Nader] Harvard Univ, Childrens Hosp, Lab Med, Boston, MA 02115 USA. [Ros, Emilio] Hosp Clin Barcelona, Inst Invest Biomed August Pi Sunyer, Dept Endocrinol & Nutr, Lipid Clin, Barcelona, Spain. [Ros, Emilio] Inst Salud Carlos III, Ciber Fisiopatol Obesidad & Nutr, Madrid, Spain. [Langlois, Michel] Acad Hosp St Jan, Dept Lab Med, Brugge, Belgium. [Langlois, Michel] Univ Ghent, B-9000 Ghent, Belgium. RP Nordestgaard, BG (reprint author), Univ Copenhagen, Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, DK-2730 Herlev, Denmark. EM boerge.nordestgaard@regionh.dk RI Kronenberg, Florian/B-1736-2008 OI Kronenberg, Florian/0000-0003-2229-1120 FU Merck; Roche Diagnostics; Denka Seiken; European Atherosclerosis Society; European Federation of Clinical Chemistry and Laboratory Medicine FX Supported by unrestricted educational grants to EAS and EFLM from Merck, Roche Diagnostics, and Denka Seiken. These companies were not present at the Joint Consensus Panel meetings, had no role in the design or content of the joint consensus statement, and had no right to approve or disapprove of the final document. Funding to pay the Open Access publication charges for this article was provided by the European Atherosclerosis Society and the European Federation of Clinical Chemistry and Laboratory Medicine. NR 47 TC 15 Z9 16 U1 4 U2 4 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0195-668X EI 1522-9645 J9 EUR HEART J JI Eur. Heart J. PD JUL 1 PY 2016 VL 37 IS 25 BP 1944 EP 1958 DI 10.1093/eurheartj/ehw152 PG 15 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA DQ3TN UT WOS:000379126000008 PM 27122601 ER PT J AU Diao, XX Scheidweiler, KB Wohlfarth, A Zhu, MS Pang, SK Huestis, MA AF Diao, Xingxing Scheidweiler, Karl B. Wohlfarth, Ariane Zhu, Mingshe Pang, Shaokun Huestis, Marilyn A. TI Strategies to distinguish new synthetic cannabinoid FUBIMINA (BIM-2201) intake from its isomer THJ-2201: metabolism of FUBIMINA in human hepatocytes SO FORENSIC TOXICOLOGY LA English DT Article DE FUBIMINA; BIM-2201; THJ-2201; Synthetic cannabinoid; Hepatocyte metabolism; Isomer ID RESOLUTION MASS-SPECTROMETRY; IN-VITRO; 3-N-BUTYLPHTHALIDE NBP; INTRINSIC CLEARANCE; DRUG CANDIDATES; HALF-LIFE; AB-PINACA; STABILITY; IDENTIFICATION; URINE AB Since 2013, a new drugs-of-abuse trend attempts to bypass drug legislation by marketing isomers of scheduled synthetic cannabinoids (SCs), e.g., FUBIMINA (BIM-2201) and THJ-2201. It is much more challenging to confirm a specific isomer's intake and distinguish it from its structural analog because the isomers and their major metabolites usually have identical molecular weights and display the same product ions. Here, we investigated isomers FUBIMINA and THJ-2201 and propose strategies to distinguish their consumption. THJ-2201 was scheduled in the US, Japan, and Europe; however, FUBIMINA is easily available on the Internet. We previously investigated THJ-2201 metabolism in human hepatocytes, but human FUBIMINA metabolism is unknown. We aim to characterize FUBIMINA metabolism in human hepatocytes, recommend optimal metabolites to confirm its consumption, and propose strategies to distinguish between intakes of FUBIMINA and THJ-2201. FUBIMINA (10 mu M) was incubated in human hepatocytes for 3 h, and metabolites were characterized with high-resolution mass spectrometry (HR-MS). We identified 35 metabolites generated by oxidative defluorination, further carboxylation, hydroxylation, dihydrodiol formation, glucuronidation, and their combinations. We recommend 5'-OH-BIM-018 (M34), BIM-018 pentanoic acid (M33), and BIM-018 pentanoic acid dihydrodiol (M7) as FUBIMINA specific metabolites. THJ-2201 produced specific metabolite markers 5'-OH-THJ-018 (F26), THJ-018 pentanoic acid (F25), and hydroxylated THJ-2201 (F13). Optimized chromatographic conditions to achieve different retention times and careful selection of specific product ion spectra enabled differentiation of isomeric metabolites, in this case FUBIMINA from THJ-2201. Our HR-MS approach should be applicable for differentiating future isomeric SCs, which is especially important when different isomers have different legal status. C1 [Diao, Xingxing; Scheidweiler, Karl B.; Huestis, Marilyn A.] NIDA, Chem & Drug Metab, IRP, NIH, 251 Bayview Blvd,Suite 200,Room 05A721, Baltimore, MD 21224 USA. [Wohlfarth, Ariane] Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, S-58758 Linkoping, Sweden. [Wohlfarth, Ariane] Linkoping Univ, Dept Drug Res, S-58185 Linkoping, Sweden. [Zhu, Mingshe] Bristol Myers Squibb, Dept Biotransformat, Res & Dev, Princeton, NJ 08543 USA. [Pang, Shaokun] SCIEX Ltd, Redwood City, CA 94065 USA. RP Huestis, MA (reprint author), NIDA, Chem & Drug Metab, IRP, NIH, 251 Bayview Blvd,Suite 200,Room 05A721, Baltimore, MD 21224 USA. EM marilyn.huestis@gmail.com FU Intramural Research Program of the National Institute on Drug Abuse, National Institutes of Health FX This research is supported by the Intramural Research Program of the National Institute on Drug Abuse, National Institutes of Health. FUBIMINA was generously donated by the Drug Enforcement Administration, Department of Justice, USA. NR 40 TC 2 Z9 2 U1 5 U2 7 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1860-8965 EI 1860-8973 J9 FORENSIC TOXICOL JI Forensic Toxicol. PD JUL PY 2016 VL 34 IS 2 BP 256 EP 267 DI 10.1007/s11419-016-0312-2 PG 12 WC Toxicology SC Toxicology GA DQ4HM UT WOS:000379164800006 ER PT J AU Simonds, NI Ghazarian, AA Pimentel, CB Schully, SD Ellison, GL Gillanders, EM Mechanic, LE AF Simonds, Naoko I. Ghazarian, Armen A. Pimentel, Camilla B. Schully, Sheri D. Ellison, Gary L. Gillanders, Elizabeth M. Mechanic, Leah E. TI Review of the Gene-Environment Interaction Literature in Cancer: What Do We Know? SO GENETIC EPIDEMIOLOGY LA English DT Review DE gene-environment interaction; literature review; genome-wide association study (GWAS); candidate gene ID GENOME-WIDE ASSOCIATION; MULTIPLE SUSCEPTIBILITY LOCI; SQUAMOUS-CELL CARCINOMA; URINARY-BLADDER CANCER; NAT2 SLOW ACETYLATION; DIETARY-FOLATE INTAKE; DNA-REPAIR GENES; BREAST-CANCER; LUNG-CANCER; CIGARETTE-SMOKING AB BackgroundRisk of cancer is determined by a complex interplay of genetic and environmental factors. Although the study of gene-environment interactions (GxE) has been an active area of research, little is reported about the known findings in the literature. MethodsTo examine the state of the science in GxE research in cancer, we performed a systematic review of published literature using gene-environment or pharmacogenomic flags from two curated databases of genetic association studies, the Human Genome Epidemiology (HuGE) literature finder and Cancer Genome-Wide Association and Meta Analyses Database (CancerGAMAdb), from January 1, 2001, to January 31, 2011. A supplemental search using HuGE was conducted for articles published from February 1, 2011, to April 11, 2013. A 25% sample of the supplemental publications was reviewed. ResultsA total of 3,019 articles were identified in the original search. From these articles, 243 articles were determined to be relevant based on inclusion criteria (more than 3,500 interactions). From the supplemental search (1,400 articles identified), 29 additional relevant articles (1,370 interactions) were included. The majority of publications in both searches examined GxE in colon, rectal, or colorectal; breast; or lung cancer. Specific interactions examined most frequently included environmental factors categorized as energy balance (e.g., body mass index, diet), exogenous (e.g., oral contraceptives) and endogenous hormones (e.g., menopausal status), chemical environment (e.g., grilled meats), and lifestyle (e.g., smoking, alcohol intake). In both searches, the majority of interactions examined were using loci from candidate genes studies and none of the studies were genome-wide interaction studies (GEWIS). The most commonly reported measure was the interaction P-value, of which a sizable number of P-values were considered statistically significant (i.e., <0.05). In addition, the magnitude of interactions reported was modest. ConclusionObservations of published literature suggest that opportunity exists for increased sample size in GxE research, including GWAS-identified loci in GxE studies, exploring more GWAS approaches in GxE such as GEWIS, and improving the reporting of GxE findings. C1 [Simonds, Naoko I.; Ellison, Gary L.; Gillanders, Elizabeth M.; Mechanic, Leah E.] NCI, Epidemiol & Genom Res Program, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. [Ghazarian, Armen A.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Pimentel, Camilla B.] Univ Massachusetts, Sch Med, Dept Quantitat Hlth Sci, Worcester, MA USA. [Schully, Sheri D.] NIH, Off Dis Prevent, Bldg 10, Bethesda, MD 20892 USA. RP Mechanic, LE (reprint author), Natl Canc Inst, Div Canc Control & Populat Sci, Genom Epidemiol Branch, Epidemiol & Genom Res Program, 9609 Med Ctr Dr,Room 4-E104, Rockville, MD 20850 USA. EM mechanil@mail.nih.gov FU Intramural NIH HHS [Z99 CA999999] NR 88 TC 3 Z9 3 U1 6 U2 15 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0741-0395 EI 1098-2272 J9 GENET EPIDEMIOL JI Genet. Epidemiol. PD JUL PY 2016 VL 40 IS 5 BP 356 EP 365 DI 10.1002/gepi.21967 PG 10 WC Genetics & Heredity; Mathematical & Computational Biology SC Genetics & Heredity; Mathematical & Computational Biology GA DQ2ZU UT WOS:000379073200001 PM 27061572 ER PT J AU Sung, YJ Winkler, TW Manning, AK Aschard, H Gudnason, V Harris, TB Smith, AV Boerwinkle, E Brown, MR Morrison, AC Fornage, M Lin, LA Richard, M Bartz, TM Psaty, BM Hayward, C Polasek, O Marten, J Rudan, I Feitosa, MF Kraja, AT Province, MA Deng, X Fisher, VA Zhou, Y Bielak, LF Smith, J Huffman, JE Padmanabhan, S Smith, BH Ding, J Liu, Y Lohman, K Bouchard, C Rankinen, T Rice, TK Arnett, D Schwander, K Guo, X Palmas, W Rotter, JI Alfred, T Bottinger, EP Loos, RJF Amin, N Franco, OH van Duijn, CM Vojinovic, D Chasman, DI Ridker, PM Rose, LM Kardia, S Zhu, X Rice, K Borecki, IB Rao, DC Gauderman, WJ Cupples, LA AF Sung, Yun Ju Winkler, Thomas W. Manning, Alisa K. Aschard, Hugues Gudnason, Vilmundur Harris, Tamara B. Smith, Albert V. Boerwinkle, Eric Brown, Michael R. Morrison, Alanna C. Fornage, Myriam Lin, Li-An Richard, Melissa Bartz, Traci M. Psaty, Bruce M. Hayward, Caroline Polasek, Ozren Marten, Jonathan Rudan, Igor Feitosa, Mary F. Kraja, Aldi T. Province, Michael A. Deng, Xuan Fisher, Virginia A. Zhou, Yanhua Bielak, Lawrence F. Smith, Jennifer Huffman, Jennifer E. Padmanabhan, Sandosh Smith, Blair H. Ding, Jingzhong Liu, Yongmei Lohman, Kurt Bouchard, Claude Rankinen, Tuomo Rice, Treva K. Arnett, Donna Schwander, Karen Guo, Xiuqing Palmas, Walter Rotter, Jerome I. Alfred, Tamuno Bottinger, Erwin P. Loos, Ruth J. F. Amin, Najaf Franco, Oscar H. van Duijn, Cornelia M. Vojinovic, Dina Chasman, Daniel I. Ridker, Paul M. Rose, Lynda M. Kardia, Sharon Zhu, Xiaofeng Rice, Kenneth Borecki, Ingrid B. Rao, Dabeeru C. Gauderman, W. James Cupples, L. Adrienne TI An Empirical Comparison of Joint and Stratified Frameworks for Studying G x E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group SO GENETIC EPIDEMIOLOGY LA English DT Article DE gene-environment interaction; meta-analysis; low-frequency variants ID GENOME-WIDE ASSOCIATION; GENERALIZED ESTIMATING EQUATIONS; ENVIRONMENT INTERACTION; GENOTYPE IMPUTATION; QUANTITATIVE TRAITS; METAANALYSIS; VARIANTS; DISEASES; PACKAGE AB Studying gene-environment (G x E) interactions is important, as they extend our knowledge of the genetic architecture of complex traits and may help to identify novel variants not detected via analysis of main effects alone. The main statistical framework for studying G x E interactions uses a single regression model that includes both the genetic main and G x E interaction effects (the joint framework). The alternative stratified framework combines results from genetic main-effect analyses carried out separately within the exposed and unexposed groups. Although there have been several investigations using theory and simulation, an empirical comparison of the two frameworks is lacking. Here, we compare the two frameworks using results from genome-wide association studies of systolic blood pressure for 3.2 million low frequency and 6.5 million common variants across 20 cohorts of European ancestry, comprising 79,731 individuals. Our cohorts have sample sizes ranging from 456 to 22,983 and include both family-based and population-based samples. In cohort-specific analyses, the two frameworks provided similar inference for population-based cohorts. The agreement was reduced for family-based cohorts. In meta-analyses, agreement between the two frameworks was less than that observed in cohort-specific analyses, despite the increased sample size. In meta-analyses, agreement depended on (1) the minor allele frequency, (2) inclusion of family-based cohorts in meta-analysis, and (3) filtering scheme. The stratified framework appears to approximate the joint framework well only for common variants in population-based cohorts. We conclude that the joint framework is the preferred approach and should be used to control false positives when dealing with low-frequency variants and/or family-based cohorts. C1 [Sung, Yun Ju; Rice, Treva K.; Schwander, Karen; Rao, Dabeeru C.] Washington Univ, Div Biostat, St Louis, MO USA. [Winkler, Thomas W.] Univ Regensburg, Dept Genet Epidemiol, Inst Epidemiol & Prevent Med, Regensburg, Germany. [Manning, Alisa K.] Broad Inst, Program Med & Populat Genet, Cambridge, MA USA. [Manning, Alisa K.] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA. [Aschard, Hugues; Chasman, Daniel I.; Ridker, Paul M.] Harvard Sch Publ Hlth, Dept Epidemiol, Boston, MA USA. [Gudnason, Vilmundur; Smith, Albert V.] Iceland Heart Assoc, Kopavogur, Iceland. [Gudnason, Vilmundur; Smith, Albert V.] Univ Iceland, Fac Med, Reykjavik, Iceland. [Harris, Tamara B.] NIA, Lab Epidemiol & Populat Sci, NIH, Bethesda, MD 20892 USA. [Boerwinkle, Eric; Brown, Michael R.; Morrison, Alanna C.; Fornage, Myriam] Univ Texas Hlth Sci Ctr Houston, Dept Epidemiol Human Genet & Environm Sci, Human Genet Ctr, Houston, TX 77030 USA. [Boerwinkle, Eric] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA. [Fornage, Myriam; Lin, Li-An; Richard, Melissa] Univ Texas Hlth Sci Ctr Houston, Brown Fdn, Inst Mol Med, Houston, TX 77030 USA. [Bartz, Traci M.; Psaty, Bruce M.; Rice, Kenneth] Univ Washington, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA. [Bartz, Traci M.; Rice, Kenneth] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Psaty, Bruce M.] Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA USA. [Hayward, Caroline; Marten, Jonathan; Huffman, Jennifer E.] Univ Edinburgh, MRC Human Genet Unit, IGMM, Edinburgh, Midlothian, Scotland. [Polasek, Ozren] Univ Split, Fac Med, Dept Publ Hlth, Split, Croatia. [Polasek, Ozren; Rudan, Igor] Univ Edinburgh, Ctr Populat Hlth Sci, Edinburgh, Midlothian, Scotland. [Feitosa, Mary F.; Kraja, Aldi T.; Province, Michael A.; Borecki, Ingrid B.] Washington Univ, Sch Med, Dept Genet, Div Stat Genom, St Louis, MO 63110 USA. [Deng, Xuan; Fisher, Virginia A.; Zhou, Yanhua; Cupples, L. Adrienne] Boston Univ, Sch Med, Dept Biostat, Boston, MA 02118 USA. [Bielak, Lawrence F.; Smith, Jennifer; Kardia, Sharon] Univ Michigan, Sch Publ Hlth, Dept Epidemiol, Ann Arbor, MI 48109 USA. [Padmanabhan, Sandosh] Univ Glasgow, BHF Glasgow Cardiovasc Res Ctr, Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland. [Padmanabhan, Sandosh; Smith, Blair H.] Univ Edinburgh, Generat Scotland, Ctr Genom & Expt Med, Edinburgh, Midlothian, Scotland. [Smith, Blair H.] Univ Dundee, Div Populat Hlth Sci, Dundee, Scotland. [Ding, Jingzhong] Wake Forest Sch Med, Dept Internal Med, Winston Salem, NC USA. [Liu, Yongmei] Wake Forest Sch Med, Dept Epidemiol & Prevent, Winston Salem, NC USA. [Lohman, Kurt] Wake Forest Sch Med, Dept Biostat Sci, Winston Salem, NC USA. [Bouchard, Claude; Rankinen, Tuomo] Pennington Biomed Res Ctr, Human Genom Lab, 6400 Perkins Rd, Baton Rouge, LA 70808 USA. [Arnett, Donna] Univ Alabama Birmingham, Dept Epidemiol, Birmingham, AL USA. [Guo, Xiuqing; Rotter, Jerome I.] Harbor UCLA Med Ctr, Dept Pediat, Inst Translat Genom & Populat Sci, LABioMed, Torrance, CA 90509 USA. [Palmas, Walter] Columbia Univ, Dept Med, Med Ctr, New York, NY USA. [Alfred, Tamuno; Bottinger, Erwin P.; Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA. [Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA. [Amin, Najaf; van Duijn, Cornelia M.; Vojinovic, Dina] Erasmus MC, Genet Epidemiol Unit, Dept Epidemiol, Rotterdam, Netherlands. [Franco, Oscar H.] Erasmus MC, Cardiovasc Epidemiol Unit, Dept Epidemiol, Rotterdam, Netherlands. [Chasman, Daniel I.; Ridker, Paul M.; Rose, Lynda M.] Brigham & Womens Hosp, Dept Med, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA. [Zhu, Xiaofeng] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA. [Gauderman, W. James] Univ Southern Calif, Dept Prevent Med, Los Angeles, CA USA. [Cupples, L. Adrienne] Framingham Heart Dis Epidemiol Study, Framingham, MA USA. RP Sung, YJ (reprint author), Washington Univ, Sch Med, Div Biostat, 660 South Euclid Ave,Campus Box 8067, St Louis, MO 63110 USA. EM yunju@wubios.wustl.edu RI Padmanabhan, Sandosh/S-3963-2016; Lin, LiAn/C-5819-2017; Bouchard, Claude/A-7637-2009; Polasek, Ozren/B-6002-2011; Feitosa, Mary/K-8044-2012 OI Lin, LiAn/0000-0003-2731-1346; Polasek, Ozren/0000-0002-5765-1862; Feitosa, Mary/0000-0002-0933-2410 FU Chief Scientist Office [CZD/16/6/4]; Medical Research Council [MC_PC_U127561128]; NCATS NIH HHS [UL1 TR000124]; NHLBI NIH HHS [K25 HL121091, R01 HL118305]; NIDDK NIH HHS [P30 DK063491] NR 38 TC 0 Z9 0 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0741-0395 EI 1098-2272 J9 GENET EPIDEMIOL JI Genet. Epidemiol. PD JUL PY 2016 VL 40 IS 5 BP 404 EP 415 DI 10.1002/gepi.21978 PG 12 WC Genetics & Heredity; Mathematical & Computational Biology SC Genetics & Heredity; Mathematical & Computational Biology GA DQ2ZU UT WOS:000379073200005 PM 27230302 ER PT J AU Pathak, A Seipel, K Pemov, A Dewan, R Brown, C Ravichandran, S Luke, BT Malasky, M Suman, S Yeager, M Gatti, RA Caporaso, NE Mulvihill, JJ Goldin, LR Pabst, T McMaster, ML Stewart, DR AF Pathak, Anand Seipel, Katja Pemov, Alexander Dewan, Ramita Brown, Christina Ravichandran, Sarangan Luke, Brian T. Malasky, Michael Suman, Shalabh Yeager, Meredith Gatti, Richard A. Caporaso, Neil E. Mulvihill, John J. Goldin, Lynn R. Pabst, Thomas McMaster, Mary L. Stewart, Douglas R. CA NCI DCEG Canc Genomics Res Lab NCI DCEG Canc Sequencing Working TI Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family SO HAEMATOLOGICA LA English DT Article ID BINDING-PROTEIN-ALPHA; ACUTE MYELOGENOUS LEUKEMIA; DNA RECOGNITION; MUTATIONS; CANCER; AML; INDUCTION AB Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-alpha (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the identified CEBPA Q311P mutation. Unlike most previously identified germline mutations in CEBPA, which were N-terminal frameshift mutations, we identified a novel Q311P variant that was located in the C-terminal bZip domain of C/EBP alpha. Protein structural modeling suggested that the Q311P mutation alters the ability of the CEBPA dimer to bind DNA. Electrophoretic mobility shift assays showed that the Q311P mu-tant had attenuated binding to DNA, as predicted by the protein modeling. Consistent with these findings, we found that the Q311P mutation has reduced transactivation, consistent with a loss-of-function mutation. From 45 years of follow up, we observed incomplete penetrance (46%) of CEBPA Q311P. This study of a large multi-generational pedigree reveals that a germline mutation in the C-terminal bZip domain can alter the ability of C/EBP-alpha to bind DNA and reduces transactivation, leading to acute myeloid leukemia. C1 [Pathak, Anand; Pemov, Alexander; Dewan, Ramita; Stewart, Douglas R.] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Seipel, Katja; Pabst, Thomas] Univ Hosp, Dept Med Oncol, Zurich, Switzerland. [Seipel, Katja; Pabst, Thomas] Univ Hosp, Dept Clin Res, Zurich, Switzerland. [Seipel, Katja; Pabst, Thomas] Univ Bern, CH-3012 Bern, Switzerland. [Brown, Christina; Gatti, Richard A.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA. [Ravichandran, Sarangan; Luke, Brian T.] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Adv Biomed Comp Ctr, Frederick, MD USA. [Malasky, Michael; Suman, Shalabh; Yeager, Meredith] NCI, Canc Genom Res Lab, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA. [Gatti, Richard A.] David Geffen UCLA Sch Med, Dept Human Genet, Los Angeles, CA USA. [Caporaso, Neil E.; Goldin, Lynn R.; McMaster, Mary L.] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Mulvihill, John J.] Univ Oklahoma, Coll Med, Genet Sect, Dept Pediat, Norman, OK 73019 USA. RP Stewart, DR (reprint author), NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. EM drstewart@mail.hih.gov RI Tobias, Geoffrey/M-4135-2016; OI Tobias, Geoffrey/0000-0002-2878-8253; Dagnall, Casey/0000-0001-7334-4718 FU National Cancer Institute, National Institutes of Health [HHSN261200800001E]; Division of Cancer Epidemiology and Genetics of Intramural Research Program of the National Cancer Institute FX This project has been funded in part with funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. This work was supported by the Division of Cancer Epidemiology and Genetics of the Intramural Research Program of the National Cancer Institute. NR 32 TC 0 Z9 0 U1 0 U2 1 PU FERRATA STORTI FOUNDATION PI PAVIA PA VIA GIUSEPPE BELLI 4, 27100 PAVIA, ITALY SN 0390-6078 J9 HAEMATOLOGICA JI Haematologica PD JUL PY 2016 VL 101 IS 7 BP 846 EP 852 DI 10.3324/haematol.2015.130799 PG 7 WC Hematology SC Hematology GA DQ8SN UT WOS:000379481500021 PM 26721895 ER PT J AU Rotunno, M McMaster, ML Boland, J Bass, S Zhang, XJ Burdett, L Hicks, B Ravichandran, S Luke, BT Yeager, M Fontaine, L Hyland, PL Goldstein, AM Chanock, SJ Caporaso, NE Tucker, MA Goldin, LR AF Rotunno, Melissa McMaster, Mary L. Boland, Joseph Bass, Sara Zhang, Xijun Burdett, Laurie Hicks, Belynda Ravichandran, Sarangan Luke, Brian T. Yeager, Meredith Fontaine, Laura Hyland, Paula L. Goldstein, Alisa M. Chanock, Stephen J. Caporaso, Neil E. Tucker, Margaret A. Goldin, Lynn R. CA NCI DCEG Canc Sequencing Working NCI DCEG Canc Genomics Res Lab TI Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene SO HAEMATOLOGICA LA English DT Article ID REED-STERNBERG CELLS; GROWTH-FACTOR VEGF; KINASE INHIBITOR; CANCER DATABASE; CLASS-I; DISEASE; SUSCEPTIBILITY; ANGIOGENESIS; MECHANISMS; RECEPTORS AB Hodgkin lymphoma shows strong familial aggregation but no major susceptibility genes have been identified to date. The goal of this study was to identify high-penetrance variants using whole exome sequencing in 17 Hodgkin lymphoma prone families with three or more affected cases or obligate carriers (69 individuals), followed by targeted sequencing in an additional 48 smaller HL families (80 individuals). Alignment and variant calling were performed using standard methods. Dominantly segregating, rare, coding or potentially functional variants were further prioritized based on predicted deleteriousness, conservation, and potential importance in lymphoid malignancy pathways. We selected 23 genes for targeted sequencing. Only the p.A1065T variant in KDR (kinase insert domain receptor) also known as VEGFR2 (vascular endothelial growth factor receptor 2) was replicated in two independent Hodgkin lymphoma families. KDR is a type III receptor tyrosine kinase, the main mediator of vascular endothelial growth factor induced proliferation, survival, and migration. Its activity is associated with several diseases including lymphoma. Functional experiments have shown that p.A1065T, located in the activation loop, can promote constitutive autophosphorylation on tyrosine in the absence of vascular endothelial growth factor and that the kinase activity was abrogated after exposure to kinase inhibitors. A few other promising mutations were identified but appear to be "private". In conclusion, in the largest sequenced cohort of Hodgkin lymphoma families to date, we identified a causal mutation in the KDR gene. While independent validation is needed, this mutation may increase downstream tumor cell proliferation activity and might be a candidate for targeted therapy. C1 [Rotunno, Melissa; McMaster, Mary L.; Hyland, Paula L.; Goldstein, Alisa M.; Caporaso, Neil E.; Goldin, Lynn R.] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Boland, Joseph; Bass, Sara; Zhang, Xijun; Burdett, Laurie; Hicks, Belynda; Yeager, Meredith] NCI, Canc Genom Res Lab, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Ravichandran, Sarangan; Luke, Brian T.] Leidos Biomed Res Inc, Adv Biomed Comp Ctr, Frederick, MD USA. [Ravichandran, Sarangan; Luke, Brian T.] Frederick Natl Lab Canc Res, Frederick, MD USA. [Fontaine, Laura] Westat Corp, Rockville, MD USA. [Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Tucker, Margaret A.] NCI, Human Genet Program, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. RP Goldin, LR (reprint author), NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. EM goldin@mail.hih.gov RI Tobias, Geoffrey/M-4135-2016 OI Tobias, Geoffrey/0000-0002-2878-8253 FU Intramural Research Program of U.S National Institutes of Health (NIH), National Cancer Institute (NCI), Division of Cancer Epidemiology and Genetics; National Cancer Institute (NCI) /National Institutes of Health (NIH) [HHSN261200800001E] FX This work was supported by the Intramural Research Program of the U.S National Institutes of Health (NIH), National Cancer Institute (NCI), Division of Cancer Epidemiology and Genetics. This work was supported in part by funds from the National Cancer Institute (NCI) /National Institutes of Health (NIH) contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views of policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. government. NR 39 TC 3 Z9 3 U1 1 U2 1 PU FERRATA STORTI FOUNDATION PI PAVIA PA VIA GIUSEPPE BELLI 4, 27100 PAVIA, ITALY SN 0390-6078 J9 HAEMATOLOGICA JI Haematologica PD JUL PY 2016 VL 101 IS 7 BP 853 EP 860 DI 10.3324/haematol.2015.135475 PG 8 WC Hematology SC Hematology GA DQ8SN UT WOS:000379481500022 PM 27365461 ER PT J AU Klair, JS Yang, JD Abdelmalek, MF Guy, CD Gill, RM Yates, K Unalp-Arida, A Lavine, JE Clark, JM Diehl, AM Suzuki, A AF Klair, Jagpal Singh Yang, Ju Dong Abdelmalek, Manal F. Guy, Cynthia D. Gill, Ryan M. Yates, Katherine Unalp-Arida, Aynur Lavine, Joel E. Clark, Jeanne M. Diehl, Anna Mae Suzuki, Ayako CA Nonalcoholic Steatohepatitis Clini TI A Longer Duration of Estrogen Deficiency Increases Fibrosis Risk Among Postmenopausal Women With Nonalcoholic Fatty Liver Disease SO HEPATOLOGY LA English DT Article ID MENOPAUSE; STEATOHEPATITIS; DESIGN AB Postmenopausal women with nonalcoholic steatohepatitis are at an increased risk of hepatic fibrosis compared with premenopausal women. Whether duration of estrogen deficiency in postmenopausal state dictates an individual's fibrosis risk remains uninvestigated. We assessed the associations of age at menopause and time from menopause with fibrosis severity in postmenopausal women with nonalcoholic fatty liver disease. Data from 488 postmenopausal women with (1) histologic diagnosis of nonalcoholic fatty liver disease and (2) self-reported information on age at menopause were analyzed. The associations of premature menopause (age at menopause of <40 years) and time from menopause (age at study enrollment - age at menopause, years) with fibrosis severity (stage 0-4) were assessed using multiple ordinal logistic regression models with and without adjusting for clinical confounders. Among the participants (age at menopause 43.7 +/- 8.6 years), women with premature menopause (29.3%) were younger at enrollment (P < 0.001) and used hormone replacement therapy more often (P < 0.003). After adjusting for age at enrollment, race, waist circumference standardized by body mass index, current smoking, current alcohol use, hypertension, diabetes/impaired fasting glucose, homeostatic model assessment of insulin resistance, and hormone replacement therapy, premature menopause was associated with an increased likelihood of having more severe fibrosis (adjusted cumulative odds ratio = 1.9, 95% confidence interval 1.3-2.7, P = 0.001), while time from menopause was directly associated with an increased likelihood of having more severe fibrosis (adjusted cumulative odds ratio for 5-year unit = 1.2, 95% confidence interval 1.1-1.3, P = 0.002). Conclusion: Duration of estrogen deficiency in postmenopausal state confers fibrosis risk among postmenopausal women with nonalcoholic fatty liver disease. C1 [Klair, Jagpal Singh] Univ Arkansas Med Sci, Dept Med, Little Rock, AR USA. [Yang, Ju Dong] Mayo Clin, Coll Med, Div Gastroenterol & Hepatol, Rochester, MN USA. [Abdelmalek, Manal F.; Diehl, Anna Mae; Suzuki, Ayako] Duke Univ, Gastroenterol & Hepatol, Durham, NC USA. [Guy, Cynthia D.] Duke Univ, Dept Pathol, Durham, NC USA. [Gill, Ryan M.] Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA. [Yates, Katherine] Johns Hopkins Bloomberg Sch Publ Hlth, Nonalcohol Steatohepatitis Clin Res Network Data, Baltimore, MD USA. [Unalp-Arida, Aynur] NIDDK, Div Digest Dis & Nutr, NIH, Bethesda, MD USA. [Lavine, Joel E.] Columbia Univ, Dept Pediat, New York, NY USA. [Clark, Jeanne M.] Johns Hopkins Sch Med, Dept Med, Div Gen Internal Med, Baltimore, MD USA. [Clark, Jeanne M.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. [Suzuki, Ayako] Cent Arkansas Vet Healthcare Syst, Gastroenterol, Little Rock, AR USA. [Suzuki, Ayako] Univ Arkansas Med Sci, Gastroenterol & Hepatol, Little Rock, AR USA. RP Suzuki, A (reprint author), Cent Arkansas Vet Healthcare Syst, Div Gastroenterol, 111-HLR, Little Rock, AR 72205 USA. EM ayako.suzuki@va.gov FU National Center for Advancing Translational Sciences [UL1TR000439, UL1TR000077, UL1TR000436, UL1TR000150, UL1TR000424, UL1TR000006, UL1TR000448, UL1TR000040, UL1TR000100, UL1TR000004, UL1TR000423, UL1TR000058, UL1TR000067, UL1TR000454]; National Institute of Diabetes and Digestive and Kidney Diseases [U01DK061718, U01DK061728, U01DK061731, U01DK061732, U01DK061734, U01DK061737, U01DK061738, U01DK061730, U01DK061713] FX Supported by the National Center for Advancing Translational Sciences in the conduct of Nonalcoholic Steatohepatitis Clinical Research Network studies (grants UL1TR000439, UL1TR000077, UL1TR000436, UL1TR000150, UL1TR000424, UL1TR000006, UL1TR000448, UL1TR000040, UL1TR000100, UL1TR000004, UL1TR000423, UL1TR000058, UL1TR000067, UL1TR000454). The Nonalcoholic Steatohepatitis Clinical Research Network is supported by the National Institute of Diabetes and Digestive and Kidney Diseases (grants U01DK061718, U01DK061728, U01DK061731, U01DK061732, U01DK061734, U01DK061737, U01DK061738, U01DK061730, U01DK061713). NR 14 TC 6 Z9 6 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0270-9139 EI 1527-3350 J9 HEPATOLOGY JI Hepatology PD JUL PY 2016 VL 64 IS 1 BP 85 EP 91 DI 10.1002/hep.28514 PG 7 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA DQ5GP UT WOS:000379233400014 PM 26919573 ER PT J AU Oh, YM Park, O Swierczewska, M Hamilton, JP Park, JS Kim, TH Lim, SM Eom, H Jo, DG Lee, CE Kechrid, R Mastorakos, P Zhang, C Hahn, SK Jeon, OC Byun, Y Kim, K Hanes, J Lee, KC Pomper, MG Gao, B Lee, S AF Oh, Yumin Park, Ogyi Swierczewska, Magdalena Hamilton, James P. Park, Jong-Sung Kim, Tae Hyung Lim, Sung-Mook Eom, Hana Jo, Dong Gyu Lee, Choong-Eun Kechrid, Raouf Mastorakos, Panagiotis Zhang, Clark Hahn, Sei Kwang Jeon, Ok-Cheol Byun, Youngro Kim, Kwangmeyung Hanes, Justin Lee, Kang Choon Pomper, Martin G. Gao, Bin Lee, Seulki TI Systemic PEGylated TRAIL Treatment Ameliorates Liver Cirrhosis in Rats by Eliminating Activated Hepatic Stellate Cells SO HEPATOLOGY LA English DT Article ID APOPTOSIS-INDUCING LIGAND; IN-VIVO; FIBROSIS; CANCER; COMBINATION; MECHANISMS; THERAPY; PHARMACOKINETICS; TOXICITY; PATHWAYS AB Liver fibrosis is a common outcome of chronic liver disease that leads to liver cirrhosis and hepatocellular carcinoma. No US Food and Drug Administration-approved targeted antifibrotic therapy exists. Activated hepatic stellate cells (aHSCs) are the major cell types responsible for liver fibrosis; therefore, eradication of aHSCs, while preserving quiescent HSCs and other normal cells, is a logical strategy to stop and/or reverse liver fibrogenesis/fibrosis. However, there are no effective approaches to specifically deplete aHSCs during fibrosis without systemic toxicity. aHSCs are associated with elevated expression of death receptors and become sensitive to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced cell death. Treatment with recombinant TRAIL could be a potential strategy to ameliorate liver fibrosis; however, the therapeutic application of recombinant TRAIL is halted due to its very short half-life. To overcome this problem, we previously generated PEGylated TRAIL (TRAIL(PEG)) that has a much longer half-life in rodents than native-type TRAIL. In this study, we demonstrate that intravenous TRAILPEG has a markedly extended half-life over native-type TRAIL in nonhuman primates and has no toxicity in primary human hepatocytes. Intravenous injection of TRAILPEG directly induces apoptosis of aHSCs in vivo and ameliorates carbon tetrachloride-induced fibrosis/cirrhosis in rats by simultaneously down-regulating multiple key fibrotic markers that are associated with aHSCs. Conclusion: TRAIL-based therapies could serve as new therapeutics for liver fibrosis/cirrhosis and possibly other fibrotic diseases. C1 [Oh, Yumin; Park, Ogyi; Swierczewska, Magdalena; Park, Jong-Sung; Kim, Tae Hyung; Pomper, Martin G.; Lee, Seulki] Johns Hopkins Univ, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD 21231 USA. [Oh, Yumin; Park, Ogyi; Swierczewska, Magdalena; Park, Jong-Sung; Kim, Tae Hyung; Mastorakos, Panagiotis; Zhang, Clark; Hanes, Justin; Lee, Seulki] Johns Hopkins Univ, Sch Med, Ctr Nanomed, Wilmer Eye Inst, Baltimore, MD 21231 USA. [Park, Ogyi; Kechrid, Raouf; Gao, Bin] NIAAA, Lab Liver Dis, NIH, 5625 Fishers Lane, Bethesda, MD 20892 USA. [Hamilton, James P.] Johns Hopkins Univ, Sch Med, Dept Med, Div Gastroenterol & Hepatol, Baltimore, MD 21231 USA. [Lim, Sung-Mook; Eom, Hana; Jo, Dong Gyu; Lee, Kang Choon] Sungkyunkwan Univ, Coll Pharm, Suwon, South Korea. [Lee, Choong-Eun] Sungkyunkwan Univ, Dept Biol Sci, Suwon, South Korea. [Hahn, Sei Kwang] Pohang Univ Sci & Technol, Dept Mat Sci & Engn, Pohang, South Korea. [Jeon, Ok-Cheol; Byun, Youngro] Seoul Natl Univ, Coll Pharm, Seoul, South Korea. [Kim, Kwangmeyung] Korea Inst Sci & Technol, Ctr Theragnosis, Seoul, South Korea. [Lee, Seulki] Therapy Pharmaceut Inc, Baltimore, MD USA. RP Gao, B (reprint author), NIAAA, Lab Liver Dis, NIH, 5625 Fishers Lane, Bethesda, MD 20892 USA.; Lee, S (reprint author), Johns Hopkins Univ, Sch Med, Ctr Nanomed, Wilmer Eye Inst,Russell H Morgan Dept Radiol & Ra, Baltimore, MD 21231 USA. EM bgao@mail.nih.gov; seulki@jhmi.edu FU National Institute of Biomedical Imaging and Bioengineering [EB013450]; National Institute on Alcohol Abuse and Alcoholism [AA000369]; US Department of Defense [CA130460]; National Research Foundation of Korea [NRF-2013R1A1A2062043, NRF-2013R1A1A2064165, NRF-2013K1A1A2A02050115]; National Institutes of Health [N01-DK-9-2310] FX This study was supported by grants from the National Institute of Biomedical Imaging and Bioengineering (EB013450 to S.L.), the National Institute on Alcohol Abuse and Alcoholism (AA000369 to B.G.), the US Department of Defense (CA130460 to Y.O. and S.L.), and the National Research Foundation of Korea (NRF-2013R1A1A2062043 to K.C.L.; NRF-2013R1A1A2064165 to S.-M. L; and NRF-2013K1A1A2A02050115 to J.-S.P. and K.K.). The Liver Tissue Procurement Distribution System was funded by National Institutes of Health contract N01-DK-9-2310. NR 37 TC 1 Z9 1 U1 9 U2 14 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0270-9139 EI 1527-3350 J9 HEPATOLOGY JI Hepatology PD JUL PY 2016 VL 64 IS 1 BP 209 EP 223 DI 10.1002/hep.28432 PG 15 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA DQ5GP UT WOS:000379233400025 PM 26710118 ER PT J AU Engel, CC Jaycox, LH Freed, MC Bray, R Brambilla, D Zatzick, D Litz, B Tanielian, T Novak, LA Lane, ME Belsher, BE Olmsted, KLR Evatt, DP Vandermaas-Peeler, R Unutzer, J Katon, WJ AF Engel, Charles C. Jaycox, Lisa H. Freed, Michael C. Bray, RobertM. Brambilla, Donald Zatzick, Douglas Litz, Brett Tanielian, Terri Novak, Laura A. Lane, Marian E. Belsher, Bradley E. Olmsted, Kristine L. Rae Evatt, Daniel P. Vandermaas-Peeler, Russ Unutzer, Jurgen Katon, Wayne J. TI Centrally Assisted Collaborative Telecare for Posttraumatic Stress Disorder and Depression Among Military Personnel Attending Primary Care A Randomized Clinical Trial SO JAMA INTERNAL MEDICINE LA English DT Article ID HEALTH-CARE; ANXIETY DISORDERS; MENTAL-DISORDERS; SOMATIC SYMPTOMS; CHRONIC PAIN; MANAGEMENT; VALIDITY; SYSTEM; PTSD; ASSOCIATION AB IMPORTANCE It is often difficult for members of the US military to access high-quality care for posttraumatic stress disorder (PTSD) and depression. OBJECTIVE To determine effectiveness of a centrally assisted collaborative telecare (CACT) intervention for PTSD and depression in military primary care. DESIGN, SETTING, AND PARTICIPANTS The STEPS-UP study (Stepped Enhancement of PTSD Services Using Primary Care) is a randomized trial comparing CACT with usual integrated mental health care for PTSD or depression. Patients, mostly men in their 20s, were enrolled from 18 primary care clinics at 6 military installations from February 2012 to August 2013 with 12-month follow-up completed in October 2014. INTERVENTIONS Randomization was to CACT (n = 332) or usual care (n = 334). The CACT patients received 12 months of stepped psychosocial and pharmacologic treatment with nurse telecare management of caseloads, symptoms, and treatment. MAIN OUTCOMES AND MEASURES Primary outcomes were severity scores on the PTSD Diagnostic Scale (PDS; scored 0-51) and Symptom Checklist depression items (SCL-20; scored 0-4). Secondary outcomes were somatic symptoms, pain severity, health-related function, and mental health service use. RESULTS Of 666 patients, 81% were male and the mean (SD) age was 31.1 (7.7) years. The CACT and usual care patients had similar baseline mean (SD) PDS PTSD (29.4 [9.4] vs 28.9 [8.9]) and SCL-20 depression (2.1 [0.6] vs 2.0 [0.7]) scores. Compared with usual care, CACT patients reported significantly greater mean (SE) 12-month decrease in PDS PTSD scores (-6.07 [0.68] vs -3.54 [0.72]) and SCL-20 depression scores -0.56 [0.05] vs -0.31 [0.05]). In the CACT group, significantly more participants had 50% improvement at 12 months compared with usual care for both PTSD (73 [25%] vs 49 [17%]; relative risk, 1.6 [95% CI, 1.1-2.4]) and depression (86 [30%] vs 59 [21%]; relative risk, 1.7 [95% CI, 1.1-2.4]), with a number needed to treat for a 50% improvement of 12.5 (95% CI, 6.9-71.9) and 11.1 (95% CI, 6.2-50.5), respectively. The CACT patients had significant improvements in somatic symptoms (difference between mean 12-month Patient Health Questionnaire 15 changes, -1.37 [95% CI, -2.26 to -0.47]) and mental health-related functioning (difference between mean 12-month Short Form-12 Mental Component Summary changes, 3.17 [95% CI, 0.91 to 5.42]), as well as increases in telephone health contacts and appropriate medication use. CONCLUSIONS AND RELEVANCE Central assistance for collaborative telecare with stepped psychosocial management modestly improved outcomes of PTSD and depression among military personnel attending primary care. C1 [Engel, Charles C.; Jaycox, Lisa H.; Tanielian, Terri] RAND Corp, 20 Pk Plaza,Ste 920, Boston, MA 02116 USA. [Engel, Charles C.; Freed, Michael C.] Uniformed Serv Univ Hlth Sci, Dept Psychiat, Bethesda, MD 20814 USA. [Freed, Michael C.; Novak, Laura A.; Belsher, Bradley E.; Evatt, Daniel P.] Deployment Hlth Clin Ctr, Silver Spring, MD USA. [Freed, Michael C.] NIMH, NIH, Bethesda, MD 20892 USA. [Bray, RobertM.; Brambilla, Donald; Lane, Marian E.; Olmsted, Kristine L. Rae; Vandermaas-Peeler, Russ] RTI Int, Res Triangle Pk, NC USA. [Zatzick, Douglas; Unutzer, Jurgen; Katon, Wayne J.] Univ Washington, Sch Med, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Litz, Brett] Vet Affairs Boston Healthcare Syst, Boston, MA USA. RP Engel, CC (reprint author), RAND Corp, 20 Pk Plaza,Ste 920, Boston, MA 02116 USA. EM cengel@rand.org FU US Department of Defense Deployment Related Medical Research Program award [DR080409]; Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc [W81XWH-09-2-0077]; Research Triangle Institute [W81XWH-09-2-0078]; RAND Corporation [W81XWH-09-2-0079] FX This study was supported by a US Department of Defense Deployment Related Medical Research Program award (grant DR080409). The award was a joint award to the Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc (award W81XWH-09-2-0077), Research Triangle Institute (award W81XWH-09-2-0078), and RAND Corporation (award W81XWH-09-2-0079). NR 45 TC 3 Z9 3 U1 2 U2 4 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6106 EI 2168-6114 J9 JAMA INTERN MED JI JAMA Intern. Med. PD JUL PY 2016 VL 176 IS 7 BP 948 EP 956 DI 10.1001/jamainternmed.2016.2402 PG 9 WC Medicine, General & Internal SC General & Internal Medicine GA DQ2NR UT WOS:000379039700018 PM 27294447 ER PT J AU Stein, MB Chen, CY Ursano, RJ Cai, TX Gelernter, J Heeringa, SG Jain, S Jensen, KP Maihofer, AX Mitchell, C Nievergelt, CM Nock, MK Neale, BM Polimanti, R Ripke, S Sun, XY Thomas, ML Wang, Q Ware, EB Borja, S Kessler, RC Smoller, J AF Stein, Murray B. Chen, Chia-Yen Ursano, Robert J. Cai, Tianxi Gelernter, Joel Heeringa, Steven G. Jain, Sonia Jensen, Kevin P. Maihofer, Adam X. Mitchell, Colter Nievergelt, Caroline M. Nock, Matthew K. Neale, Benjamin M. Polimanti, Renato Ripke, Stephan Sun, Xiaoying Thomas, Michael L. Wang, Qian Ware, Erin B. Borja, Susan Kessler, Ronald C. Smoller, JordanW. CA Army Study Assess Risk Resilience TI Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers SO JAMA PSYCHIATRY LA English DT Article ID COMBAT-RELATED PTSD; C-REACTIVE PROTEIN; OF-THE-LITERATURE; ASSESS RISK; RHEUMATOID-ARTHRITIS; MAJOR DEPRESSION; PSYCHIATRIC-DISORDERS; SUSCEPTIBILITY LOCI; MENTAL-DISORDERS; TRAUMA EXPOSURE AB IMPORTANCE Posttraumatic stress disorder (PTSD) is a prevalent, serious public health concern, particularly in the military. The identification of genetic risk factors for PTSD may provide important insights into the biological foundation of vulnerability and comorbidity. OBJECTIVE To discover genetic loci associated with the lifetime risk for PTSD in 2 cohorts from the Army Study to Assess Risk and Resilience in Servicemembers (Army STARRS). DESIGN, SETTING, AND PARTICIPANTS Two coordinated genome-wide association studies of mental health in the US military contributed participants. The New Soldier Study (NSS) included 3167 unique participants with PTSD and 4607 trauma-exposed control individuals; the Pre/Post Deployment Study (PPDS) included 947 unique participants with PTSD and 4969 trauma-exposed controls. The NSS data were collected from February 1, 2011, to November 30, 2012; the PDDS data, from January 9 to April 30, 2012. The primary analysis compared lifetime DSM-IV PTSD cases with trauma-exposed controls without lifetime PTSD. Data were analyzed from March 18 to December 27, 2015. MAIN OUTCOMES AND MEASURES Association analyses for PTSD used logistic regression models within each of 3 ancestral groups (European, African, and Latino American) by study, followed by meta-analysis. Heritability and genetic correlation and pleiotropy with other psychiatric and immune-related disorders were estimated. RESULTS The NSS population was 80.7% male (6277 of 7774 participants; mean [SD] age, 20.9 [3.3] years); the PPDS population, 94.4% male (5583 of 5916 participants; mean [SD] age, 26.5 [6.0] years). A genome-wide significant locus was found in ANKRD55 on chromosome 5 (rs159572; odds ratio [OR], 1.62; 95% CI, 1.37-1.92; P = 2.34 x 10(-8)) and persisted after adjustment for cumulative trauma exposure (adjusted OR, 1.64; 95% CI, 1.39-1.95; P = 1.18 x 10(-8)) in the African American samples from the NSS. A genome-wide significant locus was also found in or near ZNF626 on chromosome 19 (rs11085374; OR, 0.77; 95% CI, 0.70-0.85; P = 4.59 x 10(-8)) in the European American samples from the NSS. Similar results were not found for either single-nucleotide polymorphism in the corresponding ancestry group from the PPDS sample, in other ancestral groups, or in transancestral meta-analyses. Single-nucleotide polymorphism-based heritability was nonsignificant, and no significant genetic correlations were observed between PTSD and 6 mental disorders or 9 immune-related disorders. Significant evidence of pleiotropy was observed between PTSD and rheumatoid arthritis and, to a lesser extent, psoriasis. CONCLUSIONS AND RELEVANCE In the largest genome-wide association study of PTSD to date, involving a US military sample, limited evidence of association for specific loci was found. Further efforts are needed to replicate the genome-wide significant association with ANKRD55-associated in prior research with several autoimmune and inflammatory disorders-and to clarify the nature of the genetic overlap observed between PTSD and rheumatoid arthritis and psoriasis. C1 [Stein, Murray B.; Maihofer, Adam X.; Nievergelt, Caroline M.; Thomas, Michael L.] Univ Calif San Diego, Dept Psychiat, Mail Code 0855,9500 Gilman Dr, La Jolla, CA 92093 USA. [Stein, Murray B.; Jain, Sonia; Sun, Xiaoying] UCSD, Dept Family Med & Publ Hlth, La Jolla, CA USA. [Stein, Murray B.] Vet Affairs San Diego Healthcare Syst, Psychiat Serv, San Diego, CA USA. [Chen, Chia-Yen; Smoller, JordanW.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA. [Chen, Chia-Yen; Smoller, JordanW.] Harvard Med Sch, Boston, MA USA. [Chen, Chia-Yen; Neale, Benjamin M.; Ripke, Stephan; Smoller, JordanW.] Broad Inst Massachusetts Inst Technol & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA. [Ursano, Robert J.] Uniformed Serv Univ Hlth Sci, Dept Psychiat, Bethesda, MD 20814 USA. [Cai, Tianxi] Harvard TH Chan Sch Publ Hlth, Boston, MA USA. [Gelernter, Joel; Jensen, Kevin P.; Polimanti, Renato; Wang, Qian] Yale Univ, Dept Psychiat, New Haven, CT 06520 USA. [Gelernter, Joel; Polimanti, Renato; Wang, Qian] Yale Univ, Dept Genet, New Haven, CT USA. [Gelernter, Joel; Polimanti, Renato; Wang, Qian] Yale Univ, Dept Neurobiol, New Haven, CT USA. [Heeringa, Steven G.; Mitchell, Colter; Ware, Erin B.] Univ Michigan, Inst Social Res, Ann Arbor, MI USA. [Nock, Matthew K.] Harvard Univ, Dept Psychol, 33 Kirkland St, Cambridge, MA 02138 USA. [Wang, Qian] Yale Univ, Grad Sch Arts & Sci, Dept Computat Biol & Bioinformat, New Haven, CT USA. [Borja, Susan] NIMH, NIH, Bethesda, MD 20892 USA. [Kessler, Ronald C.] Harvard Med Sch, Dept Hlth Care Policy, Boston, MA USA. RP Stein, MB (reprint author), Univ Calif San Diego, Dept Psychiat, Mail Code 0855,9500 Gilman Dr, La Jolla, CA 92093 USA. EM mstein@ucsd.edu RI Wang, Qian/Q-4664-2016; OI Wang, Qian/0000-0002-5615-4506; Ware, Erin/0000-0003-4731-8158 FU Department of the Army; US Department of Health and Human Services [U01MH087981]; National Institute of Drug Abuse [R01 DA12690]; National Institutes of Health, National Institute of Mental Health (NIMH) FX This study was sponsored by the Department of the Army and supported by cooperative agreement U01MH087981 from the US Department of Health and Human Services, National Institutes of Health, National Institute of Mental Health (NIMH) (Drs Stein and Ursano). The GPA analyses were supported by grant R01 DA12690 from the National Institute of Drug Abuse (Dr Gelemter). NR 89 TC 6 Z9 6 U1 5 U2 12 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-622X EI 2168-6238 J9 JAMA PSYCHIAT JI JAMA Psychiatry PD JUL PY 2016 VL 73 IS 7 BP 695 EP 704 DI 10.1001/jamapsychiatry.2016.0350 PG 10 WC Psychiatry SC Psychiatry GA DQ2OT UT WOS:000379042700010 PM 27167565 ER PT J AU Ursano, RJ Kessler, RC Stein, MB Naifeh, JA Aliaga, PA Fullerton, CS Wynn, GH Vegella, PL Ng, THH Zhang, BG Wryter, CL Sampson, NA Kao, TC Colpe, LJ Schoenbaum, M McCarroll, JE Cox, KL Heeringa, SG AF Ursano, Robert J. Kessler, Ronald C. Stein, Murray B. Naifeh, James A. Aliaga, Pablo A. Fullerton, Carol S. Wynn, Gary H. Vegella, Patti L. Ng, Tsz Hin Hinz Zhang, Bailey G. Wryter, Christina L. Sampson, Nancy A. Kao, Tzu-Cheg Colpe, Lisa J. Schoenbaum, Michael McCarroll, James E. Cox, Kenneth L. Heeringa, Steven G. CA Army STARRS Collaborators TI Risk Factors, Methods, and Timing of Suicide Attempts Among US Army Soldiers SO JAMA PSYCHIATRY LA English DT Article ID MENTAL-HEALTH PROBLEMS; SERVICE MEMBERS; MILITARY; IRAQ; AFGHANISTAN; RESILIENCE; DEPLOYMENT; STARRS; DUTY; POSTDEPLOYMENT AB IMPORTANCE Suicide attempts in the US Army have risen in the past decade. Understanding the association between suicide attempts and deployment, as well as method and timing of suicide attempts, can assist in developing interventions. OBJECTIVE To examine suicide attempt risk factors, methods, and timing among soldiers currently deployed, previously deployed, and never deployed at the time this study was conducted. DESIGN, SETTING, AND PARTICIPANTS This longitudinal, retrospective cohort study of Regular Army-enlisted soldiers on active duty from 2004 through 2009 used individual-level person-month records to examine risk factors (sociodemographic, service related, and mental health), method, and time of suicide attempt by deployment status (never, currently, and previously deployed). Administrative data for the month before each of 9650 incident suicide attempts and an equal-probability sample of 153 528 control person-months for other soldiers were analyzed using a discrete-time survival framework. MAIN OUTCOMES AND MEASURES Suicide attempts and career, mental health, and demographic predictors were obtained from administrative and medical records. RESULTS Of the 9650 enlisted soldiers who attempted suicide, 86.3% were male, 68.4% were younger than 30 years, 59.8% were non-Hispanic white, 76.5% were high school educated, and 54.7% were currently married. The 40.4% of enlisted soldiers who had never been deployed (n = 12 421 294 person-months) accounted for 61.1% of enlisted soldiers who attempted suicide (n = 5894 cases). Risk among those never deployed was highest in the second month of service (103 per 100 000 person-months). Risk among soldiers on their first deployment was highest in the sixth month of deployment (25 per 100 000 person-months). For those previously deployed, risk was highest at 5 months after return (40 per 100 000 person-months). Currently and previously deployed soldiers were more likely to attempt suicide with a firearm than those never deployed (currently deployed: OR, 4.0; 95% CI, 2.9-5.6; previously deployed: OR, 2.7; 95% CI, 1.8-3.9). Across deployment status, suicide attempts were more likely among soldiers who were women (currently deployed: OR, 3.4; 95% CI, 3.0-4.0; previously deployed: OR, 1.5; 95% CI, 1.4-1.7; and never deployed: OR, 2.4; 95% CI, 2.3-2.6), in their first 2 years of service (currently deployed: OR, 1.9; 95% CI, 1.5-2.3; previously deployed: OR, 2.2; 95% CI, 1.9-2.7; and never deployed: OR, 3.1; 95% CI, 2.7-3.6), and had a recently received a mental health diagnosis in the previous month (currently deployed: OR, 29.8; 95% CI, 25.0-35.5; previously deployed: OR, 22.2; 95% CI, 20.1-24.4; and never deployed: OR, 15.0; 95% CI, 14.2-16.0). Among soldiers with 1 previous deployment, odds of a suicide attempt were higher for those who screened positive for depression or posttraumatic stress disorder after return from deployment and particularly at follow-up screening, about 4 to 6 months after deployment (depression: OR, 1.4; 95% CI, 1.1-1.9; posttraumatic stress disorder: OR, 2.4; 95% CI, 2.1-2.8). CONCLUSIONS AND RELEVANCE Identifying the timing and risk factors for suicide attempt in soldiers requires consideration of environmental context, individual characteristics, and mental health. These factors can inform prevention efforts. C1 [Ursano, Robert J.; Naifeh, James A.; Aliaga, Pablo A.; Fullerton, Carol S.; Wynn, Gary H.; Vegella, Patti L.; Ng, Tsz Hin Hinz; Zhang, Bailey G.; Wryter, Christina L.; McCarroll, James E.] Uniformed Serv Univ Hlth Sci, Dept Psychiat, Ctr Study Traumat Stress, Bethesda, MD 20814 USA. [Kessler, Ronald C.; Sampson, Nancy A.] Harvard Med Sch, Dept Hlth Care Policy, Boston, MA USA. [Stein, Murray B.] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. [Stein, Murray B.] Univ Calif San Diego, Dept Family Med & Publ Hlth, La Jolla, CA 92093 USA. [Kao, Tzu-Cheg] Uniformed Serv Univ Hlth Sci, Dept Prevent Med & Biometr, Bethesda, MD 20814 USA. [Colpe, Lisa J.; Schoenbaum, Michael] Univ Calif San Diego, La Jolla, CA 92093 USA. [Colpe, Lisa J.; Schoenbaum, Michael] Vet Affairs San Diego Healthcare Syst, La Jolla, CA USA. [Colpe, Lisa J.; Schoenbaum, Michael] NIMH, Bethesda, MD 20892 USA. [Cox, Kenneth L.] US Army Publ Hlth Command, Aberdeen Proving Ground, MD USA. [Heeringa, Steven G.] Univ Michigan, Inst Social Res, Ann Arbor, MI USA. RP Ursano, RJ (reprint author), Uniformed Serv Univ Hlth Sci, Dept Psychiat, 4301 Jones Bridge Rd, Bethesda, MD 20814 USA. EM robert.ursano@usuhs.edu FU Department of the Army [U01MH087981]; US Department of Health and Human Services, National Institutes of Health; National Institute of Mental Health FX Army STARRS was sponsored by the Department of the Army and funded under cooperative agreement U01MH087981 with the US Department of Health and Human Services, National Institutes of Health, and the National Institute of Mental Health. NR 39 TC 2 Z9 2 U1 9 U2 12 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-622X EI 2168-6238 J9 JAMA PSYCHIAT JI JAMA Psychiatry PD JUL PY 2016 VL 73 IS 7 BP 741 EP 749 DI 10.1001/jamapsychiatry.2016.0600 PG 9 WC Psychiatry SC Psychiatry GA DQ2OT UT WOS:000379042700015 PM 27224848 ER PT J AU Kaler, SG AF Kaler, Stephen G. TI Microbial peptide de-coppers mitochondria: implications for Wilson disease SO JOURNAL OF CLINICAL INVESTIGATION LA English DT Editorial Material ID LYSOSOMAL EXOCYTOSIS; MENKES-DISEASE; GENE; PENICILLAMINE; THERAPY; ATPASE AB The severe liver pathology of untreated Wilson disease (WD) is associated with massive copper overload caused by mutations in a liver-specific copper-transporting ATPase, ATP7B. While early, presymptomatic detection and chelation with conventional copper-binding molecules enables effective and life-saving treatment, liver transplantation is the sole option currently available for those with advanced disease. In this issue of the JCI, Lichtmannegger, Leitzinger, and colleagues delineate the therapeutic effect of methanobactin (MB), a potent bacterial copper-binding protein, at three late stages of disease in a WD rat model. Their results suggest that a formal clinical trial of MB in human subjects with severe hepatic pathology caused by WD would be rational. C1 [Kaler, Stephen G.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Translat Neurosci, Mol Med Branch, NIH, Bethesda, MD USA. RP Kaler, SG (reprint author), NIH, Porter Neurosci Res Ctr 2, Bldg 35,Room 2D-971,35A Convent Dr,MSC 3754, Bethesda, MD 20892 USA. EM kalers@mail.nih.gov FU NHLBI NIH HHS [U01 HL121842]; NICHD NIH HHS [Z01 HD008768, U01 HD079066] NR 21 TC 3 Z9 3 U1 2 U2 8 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 35 RESEARCH DR, STE 300, ANN ARBOR, MI 48103 USA SN 0021-9738 EI 1558-8238 J9 J CLIN INVEST JI J. Clin. Invest. PD JUL PY 2016 VL 126 IS 7 BP 2412 EP 2414 DI 10.1172/JCI88617 PG 3 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DQ3IA UT WOS:000379094800006 PM 27322063 ER PT J AU Fatima, A Wang, Y Uchida, Y Norden, P Liu, T Culver, A Dietz, WH Culver, F Millay, M Mukouyama, YS Kume, T AF Fatima, Anees Wang, Ying Uchida, Yutaka Norden, Pieter Liu, Ting Culver, Austin Dietz, William H. Culver, Ford Millay, Meredith Mukouyama, Yoh-suke Kume, Tsutomu TI Foxc1 and Foxc2 deletion causes abnormal lymphangiogenesis and correlates with ERK hyperactivation SO JOURNAL OF CLINICAL INVESTIGATION LA English DT Article ID LYMPHATIC-VALVE FORMATION; LYMPHEDEMA-DISTICHIASIS SYNDROME; FORKHEAD TRANSCRIPTION FACTORS; ENDOTHELIAL-CELLS; CARDIOVASCULAR DEVELOPMENT; VASCULAR MORPHOGENESIS; VESSEL MATURATION; HELIX GENE; EXPRESSION; MICE AB The lymphatic vasculature is essential for maintaining interstitial fluid homeostasis, and dysfunctional lymphangiogenesis contributes to various pathological processes, including inflammatory disease and tumor metastasis. Mutations in FOXC2 are dominantly associated with late-onset lymphedema; however, the precise role of FOXC2 and a closely related factor, FOXC1, in the lymphatic system remains largely unknown. Here we identified a molecular cascade by which FOXC1 and FOXC2 regulate ERK signaling in lymphatic vessel growth. In mice, lymphatic endothelial cell-specific (LEC-specific) deletion of Foxc1, Foxc2, or both resulted in increased LEC proliferation, enlarged lymphatic vessels, and abnormal lymphatic vessel morphogenesis. Compared with LECs from control animals, LECs from mice lacking both Foxc1 and Foxc2 exhibited aberrant expression of Ras regulators, and embryos with LEC-specific deletion of Foxc1 and Foxc2, alone or in combination, exhibited ERK hyperactivation. Pharmacological ERK inhibition in utero abolished the abnormally enlarged lymphatic vessels in FOXC-deficient embryos. Together, these results identify FOXC1 and FOXC2 as essential regulators of lymphangiogenesis and indicate a new potential mechanistic basis for lymphatic-associated diseases. C1 [Fatima, Anees; Norden, Pieter; Liu, Ting; Culver, Austin; Dietz, William H.; Culver, Ford; Millay, Meredith; Kume, Tsutomu] Northwestern Univ, Feinberg Sch Med, Feinberg Cardiovasc Res Inst, Dept Med, 300 E Super St, Chicago, IL 60611 USA. [Wang, Ying] Mayo Clin, Coll Med, Dept Biochem & Mol Biol, Rochester, MN USA. [Uchida, Yutaka; Mukouyama, Yoh-suke] NHLBI, Lab Stem Cell & Neurovasc Biol, Genet & Dev Biol Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Kume, T (reprint author), Northwestern Univ, Sch Med, Feinberg Cardiovasc Res Inst, Dept Med, 300 E Super St, Chicago, IL 60611 USA. EM t-kume@northwestern.edu FU National Cancer Institute (NCI) [P30-CA060553]; NIH [HL 126920, EY019484]; American Heart Association [AHA-14POST20390029] FX We thank Tatiana Petrova, Susan Quaggin, Olga Volpert, and Ordan Lehmann for critical reading of the manuscript. We thank Guillermo Oliver and Rong Wang for providing the Prox1-CreERT2 and Tie2-Cre mouse lines, respectively. We thank Yong K. Hong for providing human LECs. Immunofluorescence staining for p-ERK/PROX1 was performed at the Northwestern University Research Histology and Phenotyping Laboratory, which is supported by National Cancer Institute (NCI) P30-CA060553 awarded to the Robert H. Lurie Comprehensive Cancer Center. This work was supported by the NIH (HL 126920 and EY019484 to T. Kume) and the American Heart Association (AHA-14POST20390029 to Y. Wang). NR 71 TC 4 Z9 4 U1 3 U2 6 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 35 RESEARCH DR, STE 300, ANN ARBOR, MI 48103 USA SN 0021-9738 EI 1558-8238 J9 J CLIN INVEST JI J. Clin. Invest. PD JUL PY 2016 VL 126 IS 7 BP 2437 EP 2451 DI 10.1172/JCI80465 PG 15 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DQ3IA UT WOS:000379094800011 PM 27214551 ER PT J AU Absinta, M Sati, P Schindler, M Leibovitch, EC Ohayon, J Wu, TX Meani, A Filippi, M Jacobson, S Cortese, ICM Reich, DS AF Absinta, Martina Sati, Pascal Schindler, Matthew Leibovitch, Emily C. Ohayon, Joan Wu, Tianxia Meani, Alessandro Filippi, Massimo Jacobson, Steven Cortese, Irene C. M. Reich, Daniel S. TI Persistent 7-tesla phase rim predicts poor outcome in new multiple sclerosis patient lesions SO JOURNAL OF CLINICAL INVESTIGATION LA English DT Article ID CENTRAL-NERVOUS-SYSTEM; IN-VIVO; BIOPHYSICAL MECHANISMS; ACTIVATION STATUS; M2 MICROGLIA; ECHO MRI; 7 TESLA; REMYELINATION; IRON; DEMYELINATION AB BACKGROUND. In some active multiple sclerosis (MS) lesions, a strong immune reaction at the lesion edge may contain growth and thereby isolate the lesion from the surrounding parenchyma. Our previous studies suggest that this process involves opening of the blood-brain barrier in capillaries at the lesion edge, seen on MRI as centripetal contrast enhancement and a colocalized phase rim. We hypothesized that using these features to characterize early lesion evolution will allow in vivo tracking of tissue degeneration and/or repair, thus improving the evaluation of potential therapies for chronic active lesions. METHODS. Centripetally and centrifugally enhancing lesions were studied in 17 patients with MS using 7-tesla MRI. High resolution, susceptibility-weighted, T1-weighted (before/after gadolinium), and dynamic contrast-enhanced scans were acquired at baseline and months 1, 3, 6, and 12. For each lesion, time evolution of the phase rim, lesion volume, and T1 hypointensity were assessed. In autopsies of 3 progressive MS cases, the histopathology of the phase rim was determined. RESULTS. In centripetal lesions, a phase rim colocalized with initial contrast enhancement. In 12 of 22, this phase rim persisted after enhancement resolved. Compared with centripetal lesions with transient rim, those with persistent rim had less volume shrinkage and became more T1 hypointense between months 3 and 12. No centrifugal lesions developed phase rims at any time point. Pathologically, persistent rims corresponded to an iron-laden inflammatory myeloid cell population at the edge of chronic demyelinated lesions. CONCLUSION. In early lesion evolution, a persistent phase rim in lesions that shrink least and become more T1 hypointense over time suggests that the rim might mark failure of early lesion repair and/or irreversible tissue damage. In later stages of MS, phase rim lesions continue to smolder, exerting detrimental effects on affected brain tissue. C1 [Absinta, Martina; Sati, Pascal; Schindler, Matthew; Leibovitch, Emily C.; Ohayon, Joan; Wu, Tianxia; Jacobson, Steven; Cortese, Irene C. M.; Reich, Daniel S.] NINDS, Div Neuroimmunol & Neurovirol, NIH, Bethesda, MD 20852 USA. [Absinta, Martina; Meani, Alessandro; Filippi, Massimo] Univ Vita Salute San Raffaele, San Raffaele Sci Inst, Inst Expt Neurol, Div Neurosci,Neuroimaging Res Unit, Milan, Italy. RP Reich, DS (reprint author), NINDS, Translat Neuroradiol Unit, NIH, 10 Ctr Dr MSC 1400,Building 10 Room 5C103, Bethesda, MD 20852 USA. EM reichds@ninds.nih.gov RI Reich, Daniel/E-5701-2010 OI Reich, Daniel/0000-0002-2628-4334 FU NINDS; National Multiple Sclerosis Society [FG 2093-A-1] FX The Intramural Research Program of NINDS supported this study. M. Absinta was also partially supported by a National Multiple Sclerosis Society postdoctoral fellowship, award FG 2093-A-1. We thank the study participants, the Neuroimmunology Clinic for recruiting and evaluating the patients and for coordinating the scans, and the NIH Functional Magnetic Resonance Imaging Facility. We thank Govind Nair for valuable advice and assistance with 3T data acquisition. We thank Seung-Kwon Ha for advice and assistance with histological assessment. We also thank Luisa Vuolo and Xiaozhen Li for helping with the 7T data acquisition, Blake Dewey for helping with the data analysis pipeline, Alan Hoofring for his artistic contribution, Bruce Trapp for providing the myelin proteolipid protein antibody, and Brian Popko for providing the aspartoacylase antibody. NR 53 TC 2 Z9 2 U1 0 U2 2 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 35 RESEARCH DR, STE 300, ANN ARBOR, MI 48103 USA SN 0021-9738 EI 1558-8238 J9 J CLIN INVEST JI J. Clin. Invest. PD JUL PY 2016 VL 126 IS 7 BP 2597 EP 2609 DI 10.1172/JCI86198 PG 13 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DQ3IA UT WOS:000379094800023 PM 27270171 ER PT J AU Younes, SA Freeman, ML Mudd, JC Shive, CL Reynaldi, A Panigrahi, S Estes, JD Deleage, C Lucero, C Anderson, J Schacker, TW Davenport, MP McCune, JM Hunt, PW Lee, SA Serrano-Villar, S Debernardo, RL Jacobson, JM Canaday, DH Sekaly, RP Rodriguez, B Sieg, SF Lederman, MM AF Younes, Souheil-Antoine Freeman, Michael L. Mudd, Joseph C. Shive, Carey L. Reynaldi, Arnold Panigrahi, Soumya Estes, Jacob D. Deleage, Claire Lucero, Carissa Anderson, Jodi Schacker, Timothy W. Davenport, Miles P. McCune, Joseph M. Hunt, Peter W. Lee, Sulggi A. Serrano-Villar, Sergio Debernardo, Robert L. Jacobson, Jeffrey M. Canaday, David H. Sekaly, Rafick-Pierre Rodriguez, Benigno Sieg, Scott F. Lederman, Michael M. TI IL-15 promotes activation and expansion of CD8(+) T cells in HIV-1 infection SO JOURNAL OF CLINICAL INVESTIGATION LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; V-BETA REPERTOIRE; IMMUNE ACTIVATION; VIRAL LOAD; ANTIRETROVIRAL THERAPY; MEMORY-PHENOTYPE; LYMPH-NODES; CD4(+); CYTOKINE; PREDICT AB In HIV-1-infected patients, increased numbers of circulating CD8(+) T cells are linked to increased risk of morbidity and mortality. Here, we identified a bystander mechanism that promotes CD8 T cell activation and expansion in untreated HIV-1-infected patients. Compared with healthy controls, untreated HIV-1-infected patients have an increased population of proliferating, granzyme CD8(+) T cells in circulation. V beta expression and deep sequencing of CDR3 revealed that in untreated HIV-1 infection, cycling memory CD8 T cells possess a broad T cell repertoire that reflects the repertoire of the resting population. This suggests that cycling is driven by bystander activation, rather than specific antigen exposure. Treatment of peripheral blood mononuclear cells with IL-15 induced a cycling, granzyme B+ phenotype in CD8(+) T cells. Moreover, elevated IL-15 expression in the lymph nodes of untreated HIV-1-infected patients correlated with circulating CD8(+) T cell counts and was normalized in these patients following antiretroviral therapy. Together, these results suggest that IL-15 drives bystander activation of CD8(+) T cells, which predicts disease progression in untreated HIV-1-infected patients and suggests that elevated IL-15 may also drive CD8(+) T cell expansion that is linked to increased morbidity and mortality in treated patients. C1 [Younes, Souheil-Antoine; Freeman, Michael L.; Shive, Carey L.; Panigrahi, Soumya; Canaday, David H.; Rodriguez, Benigno; Sieg, Scott F.; Lederman, Michael M.] Case Western Reserve Univ, Dept Med, Ctr AIDS Res, Cleveland, OH 44106 USA. [Younes, Souheil-Antoine; Freeman, Michael L.; Shive, Carey L.; Panigrahi, Soumya; Canaday, David H.; Rodriguez, Benigno; Sieg, Scott F.; Lederman, Michael M.] Univ Hosp Cleveland, Case Med Ctr, Cleveland, OH 44106 USA. [Mudd, Joseph C.] NIAID, Immunopathogenesis Sect, Parasit Dis Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Reynaldi, Arnold; Davenport, Miles P.] Univ New S Wales, Kirby Inst Infect & Immun, Sydney, NSW, Australia. [Estes, Jacob D.; Deleage, Claire; Lucero, Carissa] Leidos Biomed Res Inc, AIDS & Canc Virus Program, Frederick Natl Lab Canc Res, Frederick, MD USA. [Anderson, Jodi; Schacker, Timothy W.] Univ Minnesota, Dept Med, Box 736 UMHC, Minneapolis, MN 55455 USA. [McCune, Joseph M.] UCSF, Dept Med, Div Expt Med, San Francisco, CA USA. [Hunt, Peter W.; Lee, Sulggi A.] UCSF, Dept Med, HIV AIDS Div, San Francisco, CA USA. [Serrano-Villar, Sergio] Univ Hosp Ramon & Cajal, Dept Infect Dis, Madrid, Spain. [Debernardo, Robert L.] Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA. [Jacobson, Jeffrey M.] Temple Univ, Lewis Katz Sch Med, Philadelphia, PA 19122 USA. [Sekaly, Rafick-Pierre] Case Western Reserve Univ, Dept Pathol, Cleveland, OH 44106 USA. RP Lederman, MM (reprint author), Case Western Reserve Univ, Sch Med, 2061 Cornell Rd, Cleveland, OH 44106 USA. EM lederman.michael@clevelandactu.org OI Serrano-Villar, Sergio/0000-0002-5447-3554; Reynaldi, Arnold/0000-0002-5529-5542 FU NIAID [AI105937, AI68636, AI36219]; Fasenmyer Foundation; Case Western Reserve University Center for AIDS Research; National Cancer Institute, NIH [HHSN261200800001E]; NIH Tetramer Core Facility [HHSN272201300006C] FX We acknowledge the NIH Tetramer Core Facility (contract HHSN272201300006C) for provision of the tetramers. This work was supported by grant awards AI105937 and AI68636 from the NIAID; the Fasenmyer Foundation; NIAID grant award AI36219; and the Case Western Reserve University Center for AIDS Research. This project has been funded in part with federal funds from the National Cancer Institute, NIH, under contract no. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. NR 53 TC 3 Z9 3 U1 0 U2 4 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 35 RESEARCH DR, STE 300, ANN ARBOR, MI 48103 USA SN 0021-9738 EI 1558-8238 J9 J CLIN INVEST JI J. Clin. Invest. PD JUL PY 2016 VL 126 IS 7 BP 2745 EP 2756 DI 10.1172/JCI85996 PG 12 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DQ3IA UT WOS:000379094800034 PM 27322062 ER PT J AU Dekker, JP Lau, AF AF Dekker, John P. Lau, Anna F. TI An Update on the Streptococcus bovis Group: Classification, Identification, and Disease Associations SO JOURNAL OF CLINICAL MICROBIOLOGY LA English DT Article ID GALLOLYTICUS SUBSP PASTEURIANUS; DEPENDENT SUPEROXIDE-DISMUTASE; OF-THE-LITERATURE; BIOTYPE II/2; SPECIES LEVEL; MENINGITIS; BACTEREMIA; SALIVARIUS; INFECTION; STRAINS AB The Streptococcus bovis group has undergone significant taxonomic changes over the past 2 decades with the advent of new identification methods with higher discriminatory power. Although the current classification system is not yet embraced by all researchers in the field and debate remains over the performance of molecular techniques for identification to the species level within the group, important disease associations for several members of the group have been clarified. Here, we provide a brief overview of the history of the S. bovis group, an outline of the currently accepted classification scheme, a review of associated clinical syndromes, and a summary of the performance and diagnostic accuracy of currently available identification methods. C1 [Dekker, John P.; Lau, Anna F.] NIH, Microbiol Serv, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. RP Lau, AF (reprint author), NIH, Microbiol Serv, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. EM anna.lau@nih.gov FU Intramural Research Program of the National Institutes of Health FX This work was supported by the Intramural Research Program of the National Institutes of Health. The content is solely the responsibility of the authors and does not represent the official views of the National Institutes of Health. NR 40 TC 0 Z9 0 U1 4 U2 6 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 0095-1137 EI 1098-660X J9 J CLIN MICROBIOL JI J. Clin. Microbiol. PD JUL PY 2016 VL 54 IS 7 BP 1694 EP 1699 DI 10.1128/JCM.02977-15 PG 6 WC Microbiology SC Microbiology GA DP6WZ UT WOS:000378641600007 PM 26912760 ER PT J AU Wentzensen, N Silver, MI AF Wentzensen, Nicolas Silver, Michelle I. TI Biomarkers for Cervical Cancer Prevention Programs: The Long and Winding Road From Discovery to Clinical Use SO JOURNAL OF LOWER GENITAL TRACT DISEASE LA English DT Editorial Material ID SQUAMOUS INTRAEPITHELIAL LESIONS; HUMAN-PAPILLOMAVIRUS; SCREENING-INTERVALS; GUIDELINES C1 [Wentzensen, Nicolas; Silver, Michelle I.] NCI, Div Canc Epidemiol & Genet, Med Ctr Dr, Bethesda, MD 20892 USA. RP Wentzensen, N (reprint author), NCI, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr,Room 7-E114, Bethesda, MD 20892 USA. NR 21 TC 0 Z9 0 U1 0 U2 4 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1089-2591 EI 1526-0976 J9 J LOW GENIT TRACT DI JI J. Low. Genit. Tract. Dis. PD JUL PY 2016 VL 20 IS 3 BP 191 EP 194 PG 4 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA DP7TI UT WOS:000378701700017 PM 27243141 ER PT J AU Morales, AG Stempinski, ES Xiao, X Patel, A Panna, A Olivier, KN Mcshane, PJ Robinson, C George, AJ Donahue, DR Chen, P Wen, H AF Morales, A. G. Stempinski, E. S. Xiao, X. Patel, A. Panna, A. Olivier, K. N. Mcshane, P. J. Robinson, C. George, A. J. Donahue, D. R. Chen, P. Wen, H. TI Micro-CT scouting for transmission electron microscopy of human tissue specimens SO JOURNAL OF MICROSCOPY LA English DT Article DE bench-top micro-CT scanner; micro-CT scouting; three-dimensional visualization; transmission electron microscopy ID COMPUTED-TOMOGRAPHY; LIGHT AB Transmission electron microscopy (TEM) provides sub-nanometre-scale details in volumetric samples. Samples such as pathology tissue specimens are often stained with a metal element to enhance contrast, which makes them opaque to optical microscopes. As a result, it can be a lengthy procedure to find the region of interest inside a sample through sectioning. We describe micro-CT scouting for TEM that allows noninvasive identification of regions of interest within a block sample to guide the sectioning step. In a tissue pathology study, a bench-top micro-CT scanner with 10 m resolution was used to determine the location of patches of the mucous membrane in osmium-stained human nasal scraping samples. Once the regions of interest were located, the sample block was sectioned to expose that location, followed by ultra-thin sectioning and TEM to inspect the internal structure of the cilia of the membrane epithelial cells with nanometre resolution. This method substantially reduced the time and labour of the search process from typically 20 sections for light microscopy to three sections with no added sample preparation. Lay description Electron microscopy provides very high levels of detail in a small area, and thus the question of where to look in an opaque sample, such as a stained tissue specimen, needs to be answered by sectioning the sample in small steps and examining the sections under a light microscope, until the region of interest is found. The search process can be lengthy and labor intensive, especially for a study involving a large number of samples. Small areas of interest can be missed in the process if not enough regions are examined. We describe a method to directly locate the region of interest within a whole sample using micro-CT imaging, bypassing the need of blindly sectioning. Micro-CT enables locating the region within 3D space; this information provides a guide for sectioning the sample to expose that precise location for high resolution electron microscopy imaging. In a human tissue specimen study, this method considerably reduced the time and labor of the search process. C1 [Morales, A. G.; Stempinski, E. S.; Patel, A.; Panna, A.; Olivier, K. N.; Mcshane, P. J.; Robinson, C.; George, A. J.; Chen, P.; Wen, H.] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. [Xiao, X.] Argonne Natl Lab, Adv Photon Source, Argonne, IL 60439 USA. [Donahue, D. R.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. RP Wen, H (reprint author), NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. EM wenh@nhlbi.nih.gov RI Wen, Han/G-3081-2010 OI Wen, Han/0000-0001-6844-2997 FU DOE Office of Science by Argonne National Laboratory [DE-AC02-06CH11357] FX The authors thank Patricia Connelly of the NHLBIEM Core for her assistance with electron microscopy. The authors thank Douglas Morris of the NIH Mouse Imaging Facility for his assistance with micro-CT. This research used resources of the Advanced Photon Source, a U.S. Department of Energy (DOE) Office of Science User Facility operated for the DOE Office of Science by Argonne National Laboratory under Contract No. DE-AC02-06CH11357. NR 11 TC 0 Z9 0 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-2720 EI 1365-2818 J9 J MICROSC-OXFORD JI J. Microsc.. PD JUL PY 2016 VL 263 IS 1 BP 113 EP 117 DI 10.1111/jmi.12385 PG 5 WC Microscopy SC Microscopy GA DQ4II UT WOS:000379167100012 PM 26854176 ER PT J AU Hu, JP Hu, ZH Zhang, Y Gou, XJ Mu, Y Wang, LR Xie, XQ AF Hu, Jianping Hu, Ziheng Zhang, Yan Gou, Xiaojun Mu, Ying Wang, Lirong Xie, Xiang-Qun TI Metal binding mediated conformational change of XPA protein: a potential cytotoxic mechanism of nickel in the nucleotide excision repair SO JOURNAL OF MOLECULAR MODELING LA English DT Article DE Cytotoxic mechanism; Nickel ion; Nucleotide excision repair; XPA; Zn-finger ID MOLECULAR-DYNAMICS SIMULATIONS; ZINC-FINGER PROTEINS; PRINCIPAL COMPONENT ANALYSIS; STRANDED-DNA-BINDING; DAMAGED DNA; SECONDARY STRUCTURE; STRUCTURAL INSIGHT; ATOMIC CHARGES; FORCE-FIELD; DOMAIN AB Nucleotide excision repair (NER) is a pivotal life process for repairing DNA nucleotide mismatch caused by chemicals, metal ions, radiation, and other factors. As the initiation step of NER, the xeroderma pigmentosum complementation group A protein (XPA) recognizes damaged DNA molecules, and recruits the replication protein A (RPA), another important player in the NER process. The stability of the Zn2+-chelated Zn-finger domain of XPA center core portion (i.e., XPA(98-210)) is the foundation of its biological functionality, while the displacement of the Zn2+ by toxic metal ions (such as Ni2+, a known human carcinogen and allergen) may impair the effectiveness of NER and hence elevate the chance of carcinogenesis. In this study, we first calculated the force field parameters for the bonded model in the metal center of the XPA(98-210) system, showing that the calculated results, including charges, bonds, angles etc., are congruent with previously reported results measured by spectrometry experiments and quantum chemistry computation. Then, comparative molecular dynamics simulations using these parameters revealed the changes in the conformation and motion mode of XPA(98-210) Zn-finger after the substitution of Zn2+ by Ni2+. The results showed that Ni2+ dramatically disrupted the relative positions of the four Cys residues in the Zn-finger structure, forcing them to collapse from a tetrahedron into an almost planar structure. Finally, we acquired the binding mode of XPA(98-210) with its ligands RPA70N and DNA based on molecular docking and structural alignment. We found that XPA(98-210)'s Zn-finger domain primarily binds to a V-shaped cleft in RPA70N, while the cationic band in its Cterminal subdomain participates in the recognition of damaged DNA. In addition, this article sheds light on the multi-component interaction pattern among XPA, DNA, and other NER-related proteins (i.e., RPA70N, RPA70A, RPA70B, RPA70C, RPA32, and RPA14) based on previously reported structural biology information. Thus, we derived a putative cytotoxic mechanism associated with the nickel ion, where the Ni2+ disrupts the conformation of the XPA Zn-finger, directly weakening its interaction with RPA70N, and thus lowering the effectiveness of the NER process. In sum, this work not only provides a theoretical insight into the multiprotein interactions involved in the NER process and potential cytotoxic mechanism associated with Ni2+ binding in XPA, but may also facilitate rational anticancer drug design based on the NER mechanism. C1 [Hu, Jianping] Leshan Normal Univ, Coll Chem, Leshan 614004, Sichuan, Peoples R China. [Hu, Jianping; Hu, Ziheng; Zhang, Yan; Wang, Lirong; Xie, Xiang-Qun] Univ Pittsburgh, Sch Pharm, Dept Pharmaceut Sci, Pittsburgh, PA 15260 USA. [Hu, Jianping; Hu, Ziheng; Zhang, Yan; Wang, Lirong; Xie, Xiang-Qun] Univ Pittsburgh, Sch Pharm, Computat Chem Genom Screening Ctr, Pittsburgh, PA 15260 USA. [Hu, Jianping; Hu, Ziheng; Zhang, Yan; Wang, Lirong; Xie, Xiang-Qun] Univ Pittsburgh, Natl Ctr Excellence Computat Drug Abuse Res, NIH, Pittsburgh, PA 15260 USA. [Hu, Jianping; Hu, Ziheng; Zhang, Yan; Wang, Lirong; Xie, Xiang-Qun] Univ Pittsburgh, Drug Discovery Inst, Pittsburgh, PA 15260 USA. [Hu, Jianping; Hu, Ziheng; Zhang, Yan; Wang, Lirong; Xie, Xiang-Qun] Univ Pittsburgh, Dept Computat Biol & Struct Biol, Sch Med, Pittsburgh, PA 15260 USA. [Hu, Jianping; Gou, Xiaojun] Chengdu Univ, Sch Pharm & Bioengn, Chengdu 610106, Sichuan, Peoples R China. [Hu, Jianping; Gou, Xiaojun] Chengdu Univ, Key Lab Med & Edible Plants Resources Dev, Sch Bioengn, Chengdu 610106, Sichuan, Peoples R China. [Mu, Ying] US FDA, Div Biol Chem & Mat Sci, Off Sci & Engn Labs, Ctr Devices & Radiol Hlth, Silver Spring, MD 20993 USA. [Wang, Lirong; Xie, Xiang-Qun] Univ Pittsburgh, Sch Pharm, 718 Salk Hall, Pittsburgh, PA 15261 USA. RP Wang, LR; Xie, XQ (reprint author), Univ Pittsburgh, Sch Pharm, Dept Pharmaceut Sci, Pittsburgh, PA 15260 USA.; Wang, LR; Xie, XQ (reprint author), Univ Pittsburgh, Sch Pharm, Computat Chem Genom Screening Ctr, Pittsburgh, PA 15260 USA.; Wang, LR; Xie, XQ (reprint author), Univ Pittsburgh, Natl Ctr Excellence Computat Drug Abuse Res, NIH, Pittsburgh, PA 15260 USA.; Wang, LR; Xie, XQ (reprint author), Univ Pittsburgh, Drug Discovery Inst, Pittsburgh, PA 15260 USA.; Wang, LR; Xie, XQ (reprint author), Univ Pittsburgh, Dept Computat Biol & Struct Biol, Sch Med, Pittsburgh, PA 15260 USA.; Wang, LR; Xie, XQ (reprint author), Univ Pittsburgh, Sch Pharm, 718 Salk Hall, Pittsburgh, PA 15261 USA. EM liw30@pitt.edu; xix15@pitt.edu FU NIDA [P30 DA035778A1]; NIH [R01 DA025612]; National Natural Science Foundation of China [11147175, 11247018]; Sichuan Provincial Education Bureau [12ZA066]; Leshan Science and Technology Administration [14GZD022] FX This work was supported by the funding from NIDA (P30 DA035778A1) and NIH (R01 DA025612), and in part by the National Natural Science Foundation of China (11147175, 11247018), the Key Project of Sichuan Provincial Education Bureau (12ZA066), the Project of Leshan Science and Technology Administration (14GZD022). NR 75 TC 1 Z9 1 U1 9 U2 15 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1610-2940 EI 0948-5023 J9 J MOL MODEL JI J. Mol. Model. PD JUL PY 2016 VL 22 IS 7 AR 156 DI 10.1007/s00894-016-3017-x PG 19 WC Biochemistry & Molecular Biology; Biophysics; Chemistry, Multidisciplinary; Computer Science, Interdisciplinary Applications SC Biochemistry & Molecular Biology; Biophysics; Chemistry; Computer Science GA DQ2EM UT WOS:000379014700011 PM 27307058 ER PT J AU Adams, LS Miller, JL Grady, PA AF Adams, Lynn S. Miller, Jeri L. Grady, Patricia A. TI The Spectrum of Caregiving in Palliative Care for Serious, Advanced, Rare Diseases: Key Issues and Research Directions SO JOURNAL OF PALLIATIVE MEDICINE LA English DT Article ID HUNTINGTON-DISEASE; ETHNIC-MINORITIES; AFRICAN-AMERICAN; FAMILY-MEMBERS; BRAIN-TUMORS; CANCER; HEALTH; INTERVENTION; INDIVIDUALS; DISPARITIES AB Rare diseases are often life-limiting conditions, the majority of which require constant caregiving needs. The realization of a spectrum of palliative care throughout the trajectory of rare diseases could ensure individualized and caregiver-focused approaches to the care of patients and families. In June 2015, the National Institute of Nursing Research (NINR), the lead institute at the National Institutes of Health for end-of-life research, in conjunction with the National Center for Advancing Translational Sciences, Office of Rare Diseases Research (ORDR) held an interdisciplinary workshop on the unique challenges of caregiving and palliative care in adult and pediatric rare diseases. The panel identified gaps in current knowledge, and afforded suggestions for research opportunities in palliative care science to improve the care of individuals with serious, advanced, rare diseases and their caregivers. This meeting provided an in-depth opportunity to incorporate new concepts into palliative and end-of-life care for individuals with a range of rare diseases and their caregivers. This report presents a summary of the workshop. C1 [Adams, Lynn S.; Miller, Jeri L.; Grady, Patricia A.] NINR, NIH, Bethesda, MD 20892 USA. RP Adams, LS (reprint author), NINR, Off End Of Life & Palliat Care Res, 6701 Democracy Blvd,Suite 700, Bethesda, MD 20892 USA. EM info@ninr.nih.gov FU National Center for Advancing Translational Sciences, ORDR FX The NINR thanks the National Center for Advancing Translational Sciences, ORDR for cosponsorship of the workshop. NR 47 TC 0 Z9 0 U1 6 U2 6 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1096-6218 EI 1557-7740 J9 J PALLIAT MED JI J. Palliat. Med. PD JUL PY 2016 VL 19 IS 7 BP 698 EP 705 DI 10.1089/jpm.2015.0464 PG 8 WC Health Care Sciences & Services SC Health Care Sciences & Services GA DP7CC UT WOS:000378655600006 PM 27249541 ER PT J AU Vidal-Ribas, P Brotman, MA Valdivieso, I Leibenluft, E Stringaris, A AF Vidal-Ribas, Pablo Brotman, Melissa A. Valdivieso, Isabel Leibenluft, Ellen Stringaris, Argyris TI The Status of Irritability in Psychiatry: A Conceptual and Quantitative Review SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Review DE irritability; depression; anxiety; conduct; meta-analysis ID SEVERE MOOD DYSREGULATION; OPPOSITIONAL DEFIANT DISORDER; PEDIATRIC BIPOLAR DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; RANDOMIZED CONTROLLED-TRIAL; DISRUPTIVE BEHAVIOR DISORDERS; CALLOUS-UNEMOTIONAL TRAITS; PLACEBO-CONTROLLED TRIAL; CLINICAL-TRIAL; DOUBLE-BLIND AB Objective: Research and clinical interest in irritability have been on the rise in recent years. Yet several questions remain about the status of irritability in psychiatry, including whether irritability can be differentiated from other symptoms, whether it forms a distinct disorder, and whether it is a meaningful predictor of clinical outcomes. In this article, we try to answer these questions by reviewing the evidence on how reliably irritability can be measured and its validity. Method: We combine a narrative and systematic review and meta-analysis of studies. For the systematic review and meta-analysis, we searched studies in PubMed and Web of Science based on preselected criteria. A total of 163 articles were reviewed, and 24 were included. Results: We found that irritability forms a distinct dimension with substantial stability across time, and that it is specifically associated with depression and anxiety in longitudinal studies. Evidence from genetic studies reveals that irritability is moderately heritable, and its overlap with depression is explained mainly by genetic factors. Behavioral and neuroimaging studies show that youth with persistent irritability exhibit altered activations in the amygdala, striatum, and frontal regions compared with age-matched healthy volunteers. Most knowledge about the treatment of irritability is based on effects of treatment on related conditions or post hoc analyses of trial data. Conclusion: We identify a number of research priorities including innovative experimental designs and priorities for treatment studies, and conclude with recommendations for the assessment of irritability for researchers and clinicians. C1 [Vidal-Ribas, Pablo; Valdivieso, Isabel; Stringaris, Argyris] Kings Coll London, Inst Psychiat Psychol & Neurosci, London WC2R 2LS, England. [Brotman, Melissa A.; Leibenluft, Ellen] NIMH, Sect Bipolar Spectrum Disorders, Emot & Dev Branch, NIH,Dept Hlth & Human Serv, Bethesda, MD 20892 USA. RP Vidal-Ribas, P (reprint author), Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Child & Adolescent Psychiat, POB 85,16 De Crespigny Pk, London SE5 8AF, England. RI Brotman, Melissa/H-7409-2013 FU NIHR Biomedical Research Centre and Dementia Unit at South London and Maudsley National Health Service (NHS) Foundation Trust and King's College London; Ministry of Higher Education, Science, Technology, and Innovation (SENESCYT studentship), Government of Ecuador FX Dr Stringaris has received grant or research support from the Guy's and St. Thomas' Charity, the Wellcome Trust, the Notional Institute for Health Research (NIHR), and University College London for a joint project with Johnson and Johnson. He has received royalties from Cambridge University Press for The Maudsley Reader in Phenomenological Psychiatry and Oxford University Press for Disruptive Mood: Irritability in Children and Adolescents. Mr. Vidal-Ribas has received funding support from the NIHR Biomedical Research Centre and Dementia Unit at South London and Maudsley National Health Service (NHS) Foundation Trust and King's College London. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health (UK). Ms. Valdivieso has received funding support from the Ministry of Higher Education, Science, Technology, and Innovation (SENESCYT studentship), Government of Ecuador. Drs. Leibenluft and Brotman report no biomedical financial interests or potential conflicts of interest. NR 146 TC 10 Z9 10 U1 12 U2 16 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0890-8567 EI 1527-5418 J9 J AM ACAD CHILD PSY JI J. Am. Acad. Child Adolesc. Psychiatr. PD JUL PY 2016 VL 55 IS 7 BP 556 EP 570 DI 10.1016/j.jaac.2016.04.014 PG 15 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA DQ1UF UT WOS:000378985200006 PM 27343883 ER PT J AU Aggarwal, A Lewison, G Idir, S Peters, M Aldige, C Boerckel, W Boyle, P Trimble, EL Roe, P Sethi, T Fox, J Sullivan, R AF Aggarwal, Ajay Lewison, Grant Idir, Saliha Peters, Matthew Aldige, Carolyn Boerckel, Win Boyle, Peter Trimble, Edward L. Roe, Philip Sethi, Tariq Fox, Jesme Sullivan, Richard TI The State State of Lung Cancer Research: A Global Analysis SO JOURNAL OF THORACIC ONCOLOGY LA English DT Article DE Research; Lung cancer; Bibliometrics; Health policy ID RANDOMIZED CONTROLLED-TRIAL; CLINICAL-TRIALS; PRIMARY-CARE; STAGE; RADIOTHERAPY; CHEMOTHERAPY; DIAGNOSIS; CHINA; BIBLIOMETRICS; MANAGEMENT AB Introduction: Lung cancer is the leading cause of years of life lost because of cancer and is associated with the highest economic burden relative to other tumor types. Research remains at the cornerstone of achieving improved outcomes of lung cancer. We present the results of a comprehensive analysis of global lung cancer research between 2004 and 2013 (10 years). Methods: The study used bibliometrics to undertake a quantitative analysis of research output in the 24 leading countries in cancer research internationally on the basis of articles and reviews in the Web of Science (WoS) database. Results: A total of 32,161 lung cancer research articles from 2085 different journals were analyzed. Lung cancer research represented only 5.6% of overall cancer research in 2013, a 1.2% increase since 2004. The commitment to lung cancer research has fallen in most countries apart from China and shows no correlation with lung cancer burden. A review of key research types demonstrated that diagnostics, screening, and quality of life research represent 4.3%, 1.8%, and 0.3% of total lung cancer research, respectively. The leading research types were genetics (20%), systemic therapies (17%), and prognostic biomarkers (16%). Research output is increasingly basic science, with a decrease in clinical translational research output during this period. Conclusions: Our findings have established that relative to the huge health, social, and economic burden associated with lung cancer, the level of world research output lags significantly behind that of research on other malignancies. Commitment to diagnostics, screening, and quality of life research is much lower than to basic science and medical research. The study findings are expected to provide the requisite knowledge to guide future cancer research programs in lung cancer. (C) 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. C1 [Aggarwal, Ajay; Lewison, Grant; Sullivan, Richard] Kings Coll London, Inst Canc Policy, London, England. [Lewison, Grant; Roe, Philip] Evaluametrics Ltd, London, England. [Idir, Saliha] Macquarie Univ, Fac Med & Hlth Sci, Sydney, NSW, Australia. [Peters, Matthew] Pfizer Int Operat, Oncol Europe Africa & Middle East Business Unit, Paris, France. [Aldige, Carolyn] Prevent Canc Fdn, Alexandria, VA USA. [Boerckel, Win] Canc Care, New York, NY USA. [Boyle, Peter] Int Prevent Res Inst, Lyon, France. [Trimble, Edward L.] NCI, Ctr Global Hlth, Bethesda, MD 20892 USA. [Sethi, Tariq] Kings Coll London, Dept Resp Med, London, England. [Fox, Jesme] Roy Castle Lung Canc Fdn, Liverpool, Merseyside, England. RP Aggarwal, A (reprint author), Kings Coll London, Inst Canc Policy, Kings Hlth Partners Integrated Canc Ctr, Dept Res Oncol, Guys Hosp Campus,Bermondsey Wing, London SE1 9RT, England. EM ajay.aggarwal@kcl.ac.uk RI Boyle, Peter/A-4380-2014 OI Boyle, Peter/0000-0001-6251-0610 FU Roy Castle Lung Cancer Foundation; Pfizer FX This study was conducted by the Institute of Cancer Policy in partnership with and support from the Roy Castle Lung Cancer Foundation on behalf of the Global Lung Cancer Coalition of Advocacy Organisations and with funding from an unrestricted research grant from Pfizer. NR 47 TC 1 Z9 1 U1 3 U2 10 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1556-0864 EI 1556-1380 J9 J THORAC ONCOL JI J. Thorac. Oncol. PD JUL PY 2016 VL 11 IS 7 BP 1040 EP 1050 DI 10.1016/j.jtho.2016.03.010 PG 11 WC Oncology; Respiratory System SC Oncology; Respiratory System GA DQ1QW UT WOS:000378976500009 PM 27013405 ER PT J AU Mikhail, AS Negussie, AH Graham, C Mathew, M Wood, BJ Partanen, A AF Mikhail, Andrew S. Negussie, Ayele H. Graham, Cole Mathew, Manoj Wood, Bradford J. Partanen, Ari TI Evaluation of a tissue-mimicking thermochromic phantom for radiofrequency ablation SO MEDICAL PHYSICS LA English DT Article DE tissue-mimicking phantom; thermochromic; thermotherapy; radiofrequency ablation; hyperthermia ID INTENSITY FOCUSED ULTRASOUND; TUMOR ABLATION; QUALITY-ASSURANCE; THERMAL THERAPY; DRUG-DELIVERY; TEMPERATURE; LIQUID AB Purpose: This work describes the characterization and evaluation of a tissue-mimicking thermochromic phantom (TMTCP) for direct visualization and quantitative determination of temperatures during radiofrequency ablation (RFA). Methods: TMTCP material was prepared using polyacrylamide gel and thermochromic ink that permanently changes color from white to magenta when heated. Color vs temperature calibration was generated in MATLAB by extracting RGB color values from digital photographs of phantom standards heated in a water bath at 25-75 degrees C. RGB and temperature values were plotted prior to curve fitting in MATHEMATICA using logistic functions of form f(t) = a+b/(1+e((c(t-d)))), where a, b, c, and d are coefficients and t denotes temperature. To quantify temperatures based on TMTCP color, phantom samples were heated to temperatures blinded to the investigators, and two methods were evaluated: (1) visual comparison of sample color to the calibration series and (2) in silico analysis using the inverse of the logistic functions to convert sample photograph RGB values to absolute temperatures. For evaluation of TMTCP performance with RFA, temperatures in phantom samples and in a bovine liver were measured radially from an RF electrode during heating using fiber-optic temperature probes. Heating and cooling rates as well as the area under the temperature vs time curves were compared. Finally, temperature isotherms were generated computationally based on color change in bisected phantoms following RFA and compared to temperature probe measurements. Results: TMTCP heating resulted in incremental, permanent color changes between 40 and 64 degrees C. Visual and computational temperature estimation methods were accurate to within 1.4 and 1.9 degrees C between 48 and 67 degrees C, respectively. Temperature estimates were most accurate between 52 and 62 degrees C, resulting in differences from actual temperatures of 0.6 and 1.6 degrees C for visual and computational methods, respectively. Temperature measurements during RFA using fiber-optic probes matched closely with maximum temperatures predicted by color changes in the TMTCP. Heating rate and cooling rate, as well as the area under the temperature vs time curve were similar for TMTCP and ex vivo liver. Conclusions: The TMTCP formulated for use with RFA can be used to provide quantitative temperature information in mild hyperthermic (40-45 degrees C), subablative (45-50 degrees C), and ablative (> 50 degrees C) temperature ranges. Accurate visual or computational estimates of absolute temperatures and ablation zone geometry can be made with high spatial resolution based on TMTCP color. As such, the TMTCP can be used to assess RFA heating characteristics in a controlled, predictable environment. C1 [Mikhail, Andrew S.; Negussie, Ayele H.; Graham, Cole; Mathew, Manoj; Wood, Bradford J.; Partanen, Ari] NIH, Ctr Intervent Oncol Radiol & Imaging Sci, Ctr Clin, Bethesda, MD 20892 USA. [Partanen, Ari] Clin Sci MR Therapy, Andover, MA 01810 USA. RP Mikhail, AS (reprint author), NIH, Ctr Intervent Oncol Radiol & Imaging Sci, Ctr Clin, Bethesda, MD 20892 USA. EM Andrew.mikhail@nih.gov OI Partanen, Ari/0000-0003-1985-149X; Mikhail, Andrew/0000-0001-9206-5765 FU Center for Interventional Oncology and Intramural Research Program of the National Institutes of Health (NIH); Cooperative Research and Development Agreement (CRADA); Philips FX This research was supported by the Center for Interventional Oncology and Intramural Research Program of the National Institutes of Health (NIH), and through a Cooperative Research and Development Agreement (CRADA) with Philips. NR 32 TC 0 Z9 0 U1 2 U2 8 PU AMER ASSOC PHYSICISTS MEDICINE AMER INST PHYSICS PI MELVILLE PA STE 1 NO 1, 2 HUNTINGTON QUADRANGLE, MELVILLE, NY 11747-4502 USA SN 0094-2405 J9 MED PHYS JI Med. Phys. PD JUL PY 2016 VL 43 IS 7 BP 4304 EP 4311 DI 10.1118/1.4953394 PG 8 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA DQ4KE UT WOS:000379171900034 PM 27370145 ER PT J AU Liu, JM Hoffman, J Zhao, J Yao, JH Lu, L Kim, L Turkbey, EB Summers, RM AF Liu, Jiamin Hoffman, Joanne Zhao, Jocelyn Yao, Jianhua Lu, Le Kim, Lauren Turkbey, Evrim B. Summers, Ronald M. TI Mediastinal lymph node detection and station mapping on chest CT using spatial priors and random forest SO MEDICAL PHYSICS LA English DT Article DE lymph node detection; lymph node station labeling; spatial prior; random forest classifier; multiatlas label fusion ID LUNG-CANCER; IMAGE SEGMENTATION; SOLID TUMORS; IN-VIVO; CLASSIFICATION; REGISTRATION; RADIOTHERAPY; BRAIN; GLCM; HEAD AB Purpose: To develop an automated system for mediastinal lymph node detection and station mapping for chest CT. Methods: The contextual organs, trachea, lungs, and spine are first automatically identified to locate the region of interest (ROI) (mediastinum). The authors employ shape features derived from Hessian analysis, local object scale, and circular transformation that are computed per voxel in the ROI. Eight more anatomical structures are simultaneously segmented by multiatlas label fusion. Spatial priors are defined as the relative multidimensional distance vectors corresponding to each structure. Intensity, shape, and spatial prior features are integrated and parsed by a random forest classifier for lymph node detection. The detected candidates are then segmented by the following curve evolution process. Texture features are computed on the segmented lymph nodes and a support vector machine committee is used for final classification. For lymph node station labeling, based on the segmentation results of the above anatomical structures, the textual definitions of mediastinal lymph node map according to the International Association for the Study of Lung Cancer are converted into patient-specific color-coded CT image, where the lymph node station can be automatically assigned for each detected node. Results: The chest CT volumes from 70 patients with 316 enlarged mediastinal lymph nodes are used for validation. For lymph node detection, their system achieves 88% sensitivity at eight false positives per patient. For lymph node station labeling, 84.5% of lymph nodes are correctly assigned to their stations. Conclusions: Multiple-channel shape, intensity, and spatial prior features aggregated by a random forest classifier improve mediastinal lymph node detection on chest CT. Using the location information of segmented anatomic structures from the multiatlas formulation enables accurate identification of lymph node stations. C1 [Liu, Jiamin; Hoffman, Joanne; Zhao, Jocelyn; Yao, Jianhua; Lu, Le; Kim, Lauren; Turkbey, Evrim B.; Summers, Ronald M.] NIH, Imaging Biomarkers & Comp Aided Diag Lab, Radiol & Imaging Sci, Clin Ctr Bldg,10 Room 1C224 MSC 1182, Bethesda, MD 20892 USA. RP Summers, RM (reprint author), NIH, Imaging Biomarkers & Comp Aided Diag Lab, Radiol & Imaging Sci, Clin Ctr Bldg,10 Room 1C224 MSC 1182, Bethesda, MD 20892 USA. EM rms@nih.gov FU National Institutes of Health, Clinical Center FX This research was supported by the National Institutes of Health, Clinical Center. The authors thank Andrew Dwyer, MD, for critical review of the paper. NR 59 TC 0 Z9 0 U1 3 U2 4 PU AMER ASSOC PHYSICISTS MEDICINE AMER INST PHYSICS PI MELVILLE PA STE 1 NO 1, 2 HUNTINGTON QUADRANGLE, MELVILLE, NY 11747-4502 USA SN 0094-2405 J9 MED PHYS JI Med. Phys. PD JUL PY 2016 VL 43 IS 7 BP 4362 EP 4374 DI 10.1118/1.4954009 PG 13 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA DQ4KE UT WOS:000379171900040 ER PT J AU Shapiro, BA Le Grice, SFJ AF Shapiro, Bruce A. Le Grice, Stuart F. J. TI Advances in RNA structure determination SO METHODS LA English DT Editorial Material ID 3D STRUCTURE; IN-VIVO; MOLECULES; BINDING C1 [Shapiro, Bruce A.] NCI, RNA Struct & Design Sect, Frederick, MD 21702 USA. [Le Grice, Stuart F. J.] NCI, RT Biochem Sect, Frederick, MD 21702 USA. RP Shapiro, BA (reprint author), NCI, RNA Struct & Design Sect, Frederick, MD 21702 USA. EM shapirbr@mail.nih.gov; legrices@mail.nih.gov NR 19 TC 0 Z9 0 U1 6 U2 6 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 1 EP 3 DI 10.1016/j.ymeth.2016.06.006 PG 3 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400001 PM 27342006 ER PT J AU Liu, Y Yu, P Dyba, M Sousa, R Stagno, JR Wang, YX AF Liu, Yu Yu, Ping Dyba, Marzena Sousa, Rui Stagno, Jason R. Wang, Yun-Xing TI Applications of PLOR in labeling large RNAs at specific sites SO METHODS LA English DT Article DE PLOR; RNA; Specific labeling ID X-RAY CRYSTALLOGRAPHY; TURNIP CRINKLE VIRUS; SELENIUM DERIVATIZATION; TRANSLATIONAL ENHANCER; CHEMICAL-SYNTHESIS; NMR; POLYMERASE; DYNAMICS; CRYSTALLIZATION; TRANSCRIPTION AB Incorporation of modified or labeled nucleotides at specific sites in RNAs is critical for gaining insights into the structure and function of RNAs. Preparation of site-specifically labeled large RNAs in amounts suitable for structural or functional studies is extremely difficult using current methodologies. The position-selective labeling of RNA, PLOR, is a recently developed method that makes such syntheses possible. PLOR allows incorporation of various probes, including D-2/C-13/N-15-isotopic labels, Cy3/Cy5/Alexa488/Alexa555 fluorescent dyes, biotin and other chemical groups, into specific positions in long RNAs. Here, we describe in detail the use of PLOR to label RNAs at specific segment(s) or discrete sites. (C) 2016 Published by Elsevier Inc. C1 [Liu, Yu; Stagno, Jason R.; Wang, Yun-Xing] NCI, Prot Nucle Acid Interact Sect, Struct Biophys Lab, Ctr Canc Res,NIH, Frederick, MD 21702 USA. [Yu, Ping; Dyba, Marzena] Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Struct Biophys Lab, Frederick, MD 21702 USA. [Sousa, Rui] Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA. RP Liu, Y (reprint author), NCI, Prot Nucle Acid Interact Sect, Struct Biophys Lab, Ctr Canc Res,NIH, Frederick, MD 21702 USA. EM liuy13@mail.nih.gov FU Intramural Research Programs of the National Cancer Institute FX This work was supported by the Intramural Research Programs of the National Cancer Institute. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. NR 44 TC 1 Z9 1 U1 5 U2 5 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 4 EP 10 DI 10.1016/j.ymeth.2016.03.014 PG 7 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400002 PM 27033177 ER PT J AU Bhandari, YR Jiang, W Stahlberg, EA Stagno, JR Wang, YX AF Bhandari, Yuba R. Jiang, Wei Stahlberg, Eric A. Stagno, Jason R. Wang, Yun-Xing TI Modeling RNA topological structures using small angle X-ray scattering SO METHODS LA English DT Article DE SAXS; RNA; Conformation; Motif; Moves; Topological ID REV RESPONSE ELEMENT; STRUCTURE PREDICTION; SECONDARY STRUCTURE; FLEXIBLE PROTEINS; RESOLUTION; CONSTRAINTS; MECHANISMS; PATHWAYS; RIBOZYME; IFOLDRNA AB Detailed understanding of the structure and function relationship of RNA requires knowledge about RNA three-dimensional (3D) topological folding. However, there are very few unique RNA entries in structure databases. This is due to challenges in determining 3D structures of RNA using conventional methods, such as X-ray crystallography and NMR spectroscopy, despite significant advances in both of these technologies. Computational methods have come a long way in accurately predicting the 3D structures of small (<50 nt) RNAs to within a few angstroms compared to their native folds. However, lack of an apparent correlation between an RNA primary sequence and its 3D fold ultimately limits the success of purely computational approaches. In this context, small angle X-ray scattering (SAXS) serves as a valuable tool by providing global shape information of RNA. In this article, we review the progress in determining RNA 3D topological structures, including a new method that combines secondary structural information and SAXS data to sample conformations generated through hierarchical moves of commonly observed RNA motifs. (C) 2016 Published by Elsevier Inc. C1 [Bhandari, Yuba R.; Stagno, Jason R.; Wang, Yun-Xing] NCI, Prot Nucle Acid Interact Sect, Struct Biophys Lab, Ctr Canc Res,NIH, Frederick, MD 21702 USA. [Jiang, Wei] Argonne Natl Lab, Lemont, IL USA. [Stahlberg, Eric A.] Frederick Natl Lab Canc Res, Data Sci & Informat Technol Program, Frederick, MD 21702 USA. RP Bhandari, YR (reprint author), NCI, Prot Nucle Acid Interact Sect, Struct Biophys Lab, Ctr Canc Res,NIH, Frederick, MD 21702 USA. EM bhandariyr@mail.nih.gov FU Intramural Research Programs of the National Cancer Institute; DOE Office of Science User Facility [DE-AC02-06CH11357] FX This work was supported by the Intramural Research Programs of the National Cancer Institute. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. This research utilized the computational resources of the NIH HPC Biowulf cluster (http://hpc.nih.gov) and resources of the Argonne Leadership Computing Facility, which is a DOE Office of Science User Facility supported under Contract DE-AC02-06CH11357. NR 47 TC 2 Z9 2 U1 7 U2 12 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 18 EP 24 DI 10.1016/j.ymeth.2016.04.015 PG 7 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400004 PM 27090001 ER PT J AU Palangat, M Larson, DR AF Palangat, Murali Larson, Daniel R. TI Single-gene dual-color reporter cell line to analyze RNA synthesis in vivo SO METHODS LA English DT Article DE Single-molecule; RNA; Fluorescence; Transcription; Quantitative; Single-gene ID TRANSCRIPTION; EXPRESSION; REVEALS; YEAST; INITIATION AB RNA synthesis occurs through the multi-step process of transcription which consists of initiation, elongation, termination, and cleavage of the nascent RNA. In recent years, post-initiation events have attracted considerable attention as regulatory steps in gene expression. In particular, changes in elongation rate have been proposed to alter RNA fate either through changes in RNA secondary structure or recruitment of trans-acting factors, but systematic approaches for perturbing and measuring elongation rate are currently lacking. Here, we describe a system for precisely measuring elongation dynamics for single nascent transcripts at a single gene locus in human cell lines. The system is based on observing the production of fluorescently labeled RNA stem loops which flank a region of interest. The region of interest can be altered using flp recombinases, thus allowing one to study the effects of cis-acting sequences on transcription rate. The dual-color RNAs which are made during this process are exported and translated, thus enabling visualization of each step in gene expression. (C) 2016 Published by Elsevier Inc. C1 [Palangat, Murali; Larson, Daniel R.] NCI, Lab Receptor Biol & Gene Express, Ctr Canc Res, NIH, Bethesda, MD USA. RP Larson, DR (reprint author), NCI, Lab Receptor Biol & Gene Express, Ctr Canc Res, NIH, Bethesda, MD USA. EM Dan.larson@nih.gov RI Larson, Daniel/B-9829-2008 OI Larson, Daniel/0000-0001-9253-3055 FU Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research FX This research was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. We would like to thank Kathy McKinnon from the FACS core for help with cell sorting. NR 23 TC 1 Z9 1 U1 2 U2 3 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 77 EP 85 DI 10.1016/j.ymeth.2016.04.009 PG 9 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400010 PM 27068658 ER PT J AU Parlea, L Bindewald, E Sharan, R Bartlett, N Moriarty, D Oliver, J Afonin, KA Shapiro, BA AF Parlea, Lorena Bindewald, Eckart Sharan, Rishabh Bartlett, Nathan Moriarty, Daniel Oliver, Jerome Afonin, Kirill A. Shapiro, Bruce A. TI Ring Catalog: A resource for designing self-assembling RNA nanostructures SO METHODS LA English DT Article DE RNA motifs; 3D structural elements; Sequence design; Nanoconstruct; RNA nanoparticle; Self-assembly ID SIGNATURE MOLECULAR DESCRIPTOR; EXTENDED VALENCE SEQUENCES; BUILDING-BLOCKS; PRNA NANOPARTICLES; EMERGING FIELD; IN-SILICO; NANOTECHNOLOGY; DELIVERY; SELECTIVITY; FABRICATION AB Designing self-assembling RNA ring structures based on known 3D structural elements connected via linker helices is a challenging task due to the immense number of motif combinations, many of which do not lead to ring-closure. We describe an in silico solution to this design problem by combinatorial assembly of RNA 3-way junctions, bulges, and kissing loops, and tabulating the cases that lead to ring formation. The solutions found are made available in the form of a web-accessible Ring Catalog. As an example of a potential use of this resource, we chose a predicted RNA square structure consisting of five RNA strands and demonstrate experimentally that the self-assembly of those five strands leads to the formation of a square-like complex. This is a demonstration of a novel "design by catalog" approach to RNA nano-structure generation. The URL https://rnajunction.ncifcrf.gov/ringdb can be used to access the resource. (C) 2016 Published by Elsevier Inc. C1 [Parlea, Lorena; Sharan, Rishabh; Bartlett, Nathan; Moriarty, Daniel; Oliver, Jerome; Shapiro, Bruce A.] NCI, Gene Regulat & Chromosome Biol Lab, Frederick, MD 21702 USA. [Bindewald, Eckart] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Basic Sci Program, Frederick, MD 21702 USA. [Afonin, Kirill A.] Univ N Carolina, Dept Chem, 9201 Univ City Blvd, Charlotte, NC 28223 USA. RP Shapiro, BA (reprint author), NCI, Gene Regulat & Chromosome Biol Lab, Frederick, MD 21702 USA. EM shabirbr@mail.nih.gov FU Frederick National Laboratory for Cancer Research; National Institutes of Health [HHSN261200800001E]; Intramural Research Program of the NIH; National Cancer Institute, Center for Cancer Research FX We thank Jennifer Miller and Stuart Le Grice for providing the in-house T7 RNA polymerase. We thank Noah Hoffman for creating secondary structure diagrams. This work has been funded in whole or in part with Federal funds from the Frederick National Laboratory for Cancer Research, National Institutes of Health, under Contract No. HHSN261200800001E. This research was supported [in part] by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. NR 53 TC 3 Z9 3 U1 2 U2 2 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 128 EP 137 DI 10.1016/j.ymeth.2016.04.016 PG 10 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400014 PM 27090005 ER PT J AU Ros, XBD Gu, S AF Ros, Xavier Bofill-De Gu, Shuo TI Guidelines for the optimal design of miRNA-based shRNAs SO METHODS LA English DT Article DE RNAi; shRNA; siRNA; miRNA; Gene therapy; RNA structure ID DOUBLE-STRANDED-RNA; MAMMALIAN MESSENGER-RNAS; SHORT HAIRPIN RNAS; STRUCTURAL BASIS; MICRORNA BIOGENESIS; RISC ACTIVATION; MICROPROCESSOR COMPLEX; DROSHA-DGCR8 COMPLEX; HUMAN ARGONAUTE2; GENE-EXPRESSION AB RNA interference (RNAi) is an extremely useful tool for inhibiting gene expression. It can be triggered by transfected synthetic small interfering RNA (siRNA) or by expressed small hairpin RNA (shRNA). The cellular machinery processes the latter into siRNA in vivo. shRNA is preferred or required in genetic screens and specific RNAi approaches in gene therapy settings. Despite its many successes, the field of shRNAs faces many challenges. Insufficient knockdowns and off-target effects become obstacles for shRNA usage in many applications. Numerous failures are triggered by pitfalls in shRNA design that is often associated with impoverished biogenesis. Here, based on current understanding of the miRNA maturation pathway, we discuss the principles of different shRNA design (pre-miRNA-like, pri-miRNA-like and Ago-shRNA) with an emphasis on the RNA structure. We also provide detailed instructions for an optimal design of pre-miRNA-like shRNA. Published by Elsevier Inc. C1 [Ros, Xavier Bofill-De; Gu, Shuo] NCI, Gene Regulat & Chromosome Biol Lab, Ctr Canc Res, Frederick, MD 21701 USA. RP Gu, S (reprint author), NCI, Gene Regulat & Chromosome Biol Lab, Ctr Canc Res, Frederick, MD 21701 USA. EM shuo.gu@nih.gov OI Bofill De Ros, Xavier/0000-0002-1630-0652 FU Intramural Research Program of the National Cancer Institute, National Institutes of Health, United States FX We thank all the members of the group and specially Angela Dinardo for their helpful discussion and critically reading this manuscript. Authors apologize for any uncited references that were left out due to space limitations. This work was supported by the Intramural Research Program of the National Cancer Institute, National Institutes of Health, United States. NR 107 TC 0 Z9 0 U1 3 U2 4 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 157 EP 166 DI 10.1016/j.ymeth.2016.04.003 PG 10 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400016 ER PT J AU Abulwerdi, FA Schneekloth, JS AF Abulwerdi, Fardokht A. Schneekloth, John S., Jr. TI Microarray-based technologies for the discovery of selective, RNA-binding molecules SO METHODS LA English DT Article DE RNA; Microarrays; Aminoglycosides; Peptides; Peptoids; Small molecules ID PEPTIDE MICROARRAYS; LIGANDS; DESIGN; AMINOGLYCOSIDE; LOOP; BIOGENESIS; MICRORNAS; PRECURSOR; SEQUENCE; SITES AB The identification of small molecules that bind specifically to RNA is a challenge. However, the recent explosion in knowledge about the role RNA plays in a number of physiological processes apart from coding for protein sequences makes it a highly interesting target for chemical probes and therapeutics. One technology that has played an important role in the discovery of RNA-binding molecules is microarrays. Microarrays have been broadly employed to screen, profile, and quantify RNA interactions, and will likely play an important role in the discovery of new classes of ligands going forward. Here, we discuss the development of microarray technologies, including aminoglycoside, peptide, peptoid, and small molecule microarrays, and their use in studying RNA-interacting molecules. (C) 2016 Published by Elsevier Inc. C1 [Abulwerdi, Fardokht A.; Schneekloth, John S., Jr.] NCI, Biol Chem Lab, Frederick, MD 21701 USA. [Abulwerdi, Fardokht A.] NCI, Basic Res Lab, Frederick, MD 21701 USA. RP Schneekloth, JS (reprint author), NCI, Biol Chem Lab, Frederick, MD 21701 USA. EM schneeklothjs@mail.nih.gov FU Intramural Research Program of the National Institutes of Health, Center for Cancer Research, the National Cancer Institute (NCI); IATAP program, National Institutes of Health; National Cancer Institute (NCI) FX This work was supported by the Intramural Research Program of the National Institutes of Health, Center for Cancer Research, the National Cancer Institute (NCI), and the IATAP program, National Institutes of Health. NR 31 TC 2 Z9 2 U1 4 U2 10 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1046-2023 EI 1095-9130 J9 METHODS JI Methods PD JUL 1 PY 2016 VL 103 BP 188 EP 195 DI 10.1016/j.ymeth.2016.04.022 PG 8 WC Biochemical Research Methods; Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA DQ1ST UT WOS:000378981400020 PM 27109057 ER PT J AU Barisoni, L Troost, JP Nast, C Bagnasco, S Avila-Casado, C Hodgin, J Palmer, M Rosenberg, A Gasim, A Liensziewski, C Merlino, L Chien, HP Chang, A Meehan, SM Gaut, J Song, P Holzman, L Gibson, D Kretzler, M Gillespie, BW Hewitt, SM AF Barisoni, Laura Troost, Jonathan P. Nast, Cynthia Bagnasco, Serena Avila-Casado, Carmen Hodgin, Jeffrey Palmer, Matthew Rosenberg, Avi Gasim, Adil Liensziewski, Chrysta Merlino, Lino Chien, Hui-Ping Chang, Anthony Meehan, Shane M. Gaut, Joseph Song, Peter Holzman, Lawrence Gibson, Debbie Kretzler, Matthias Gillespie, Brenda W. Hewitt, Stephen M. TI Reproducibility of the NEPTUNE descriptor-based scoring system on whole-slide images and histologic and ultrastructural digital images SO MODERN PATHOLOGY LA English DT Article ID FOCAL SEGMENTAL GLOMERULOSCLEROSIS; DIABETIC-NEPHROPATHY; VIRTUAL MICROSCOPY; NEPHROTIC SYNDROME; NETWORK NEPTUNE; CLASSIFICATION; LESIONS; TRANSPLANTATION; PATHOLOGY; PODOCYTOPATHIES AB The multicenter Nephrotic Syndrome Study Network (NEPTUNE) digital pathology scoring system employs a novel and comprehensive methodology to document pathologic features from whole-slide images, immunofluorescence and ultrastructural digital images. To estimate inter- and intra-reader concordance of this descriptor-based approach, data from 12 pathologists (eight NEPTUNE and four non-NEPTUNE) with experience from training to 30 years were collected. A descriptor reference manual was generated and a webinar-based protocol for consensus/cross-training implemented. Intra-reader concordance for 51 glomerular descriptors was evaluated on jpeg images by seven NEPTUNE pathologists scoring 131 glomeruli three times (Tests I, II, and III), each test following a consensus webinar review. Inter-reader concordance of glomerular descriptors was evaluated in 315 glomeruli by all pathologists; interstitial fibrosis and tubular atrophy (244 cases, whole-slide images) and four ultrastructural podocyte descriptors (178 cases, jpeg images) were evaluated once by six and five pathologists, respectively. Cohen's kappa for inter- reader concordance for 48/51 glomerular descriptors with sufficient observations was moderate (0.40 < kappa <= 0.60) for 17 and good (0.60 < kappa <= 0.80) for 8, for 52% with moderate or better kappas. Clustering of glomerular descriptors based on similar pathologic features improved concordance. Concordance was independent of years of experience, and increased with webinar cross-training. Excellent concordance was achieved for interstitial fibrosis and tubular atrophy. Moderate-to-excellent concordance was achieved for all ultrastructural podocyte descriptors, with good-to-excellent concordance for descriptors commonly used in clinical practice, foot process effacement, and microvillous transformation. NEPTUNE digital pathology scoring system enables novel morphologic profiling of renal structures. For all histologic and ultrastructural descriptors tested with sufficient observations, moderate-to-excellent concordance was seen for 31/54 (57%). Descriptors not sufficiently represented will require further testing. This study proffers the NEPTUNE digital pathology scoring system as a model for standardization of renal biopsy interpretation extendable outside the NEPTUNE consortium, enabling international collaborations. C1 [Barisoni, Laura; Merlino, Lino] Univ Miami, Miller Sch Med, Dept Pathol, 1400 NW 12th Ave,Room 4079, Miami, FL 33136 USA. [Troost, Jonathan P.; Gibson, Debbie] Univ Michigan, Div Pediat Nephrol, Dept Pediat, Ann Arbor, MI 48109 USA. [Nast, Cynthia] Cedars Sinai Med Ctr, Dept Pathol, Los Angeles, CA 90048 USA. [Bagnasco, Serena] Johns Hopkins Univ, Dept Pathol, Baltimore, MD USA. [Avila-Casado, Carmen] Univ Toronto, Dept Pathol, Toronto, ON M5S 1A1, Canada. [Hodgin, Jeffrey] Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA. [Palmer, Matthew] Univ Penn, Dept Pathol, Philadelphia, PA 19104 USA. [Rosenberg, Avi; Hewitt, Stephen M.] NCI, Pathol Lab, Bldg 10, Bethesda, MD 20892 USA. [Gasim, Adil] Univ N Carolina, Dept Pathol, Chapel Hill, NC USA. [Liensziewski, Chrysta; Kretzler, Matthias] Univ Michigan, Dept Med, Div Nephrol, Ann Arbor, MI 48109 USA. [Chien, Hui-Ping] Keelung Chang Gung Mem Hosp, Dept Pathol, Keelung, Taiwan. [Chang, Anthony] Univ Chicago, Dept Pathol, 5841 S Maryland Ave, Chicago, IL 60637 USA. [Meehan, Shane M.] Sharp Mem Hosp & Rehabil Ctr, Dept Pathol, San Diego, CA USA. [Gaut, Joseph] Washington Univ, Dept Pathol, St Louis, MO 63130 USA. [Song, Peter; Gillespie, Brenda W.] Univ Michigan, Sch Publ Hlth, Dept Biostat, Ann Arbor, MI 48109 USA. [Holzman, Lawrence] Univ Penn, Dept Med, Div Nephrol, Philadelphia, PA 19104 USA. RP Barisoni, L (reprint author), Univ Miami, Miller Sch Med, Dept Pathol, 1400 NW 12th Ave,Room 4079, Miami, FL 33136 USA.; Gillespie, BW (reprint author), Univ Michigan, CSCAR, 3550 Rackham Bldg,915 E Washington St, Ann Arbor, MI 48109 USA. EM lbarisoni@med.miami.edu; bgillesp@umich.edu OI Chang, Anthony/0000-0002-6877-5510 FU Office of Rare Diseases Research (ORDR); NCATS; National Institute of Diabetes, Digestive, and Kidney Diseases; University of Michigan; NephCure Kidney International; Halperin Foundation; NEPTUNE pilot award FX The Nephrotic Syndrome Study Network Consortium (NEPTUNE) is a part of the National Center for Advancing Translational Sciences (NCATS), the Rare Disease Clinical Research Network (RDCRN), and is supported through a collaboration between the Office of Rare Diseases Research (ORDR), NCATS, and the National Institute of Diabetes, Digestive, and Kidney Diseases. RDCRN is an initiative of ORDR and NCATS. Additional funding and/or programmatic support for this project has also been provided by the University of Michigan, NephCure Kidney International, and the Halperin Foundation. This study was supported by a NEPTUNE pilot award. We thank Dr Charles Jennette for his contribution to creating the descriptor manual and participation in the training webinar sessions, and Dr William Smoyer for critical review of the manuscript. NR 29 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD JUL PY 2016 VL 29 IS 7 BP 671 EP 684 DI 10.1038/modpathol.2016.58 PG 14 WC Pathology SC Pathology GA DQ1AR UT WOS:000378933500002 PM 27102348 ER PT J AU Dundon, SER Chang, SS Kumar, A Occhipinti, P Shroff, H Roper, M Gladfelter, AS AF Dundon, Samantha E. R. Chang, Shyr-Shea Kumar, Abhishek Occhipinti, Patricia Shroff, Hari Roper, Marcus Gladfelter, Amy S. TI Clustered nuclei maintain autonomy and nucleocytoplasmic ratio control in a syncytium SO MOLECULAR BIOLOGY OF THE CELL LA English DT Article ID PLANE ILLUMINATION MICROSCOPY; RECEPTOR MESSENGER-RNA; ASHBYA-GOSSYPII; MULTINUCLEATE CELLS; INJECTED NUCLEI; FROG OOCYTES; EXPRESSION; CYTOPLASM; BEHAVIOR; DYNEIN AB Nuclei in syncytia found in fungi, muscles, and tumors can behave independently despite cytoplasmic translation and the homogenizing potential of diffusion. We use a dynactin mutant strain of the multinucleate fungus Ashbya gossypii with highly clustered nuclei to assess the relative contributions of nucleus and cytoplasm to nuclear autonomy. Remarkably, clustered nuclei maintain cell cycle and transcriptional autonomy; therefore some sources of nuclear independence function even with minimal cytosol insulating nuclei. In both nuclear clusters and among evenly spaced nuclei, a nucleus' transcriptional activity dictates local cytoplasmic contents, as assessed by the localization of several cyclin mRNAs. Thus nuclear activity is a central determinant of the local cytoplasm in syncytia. Of note, we found that the number of nuclei per unit cytoplasm was identical in the mutant to that in wild-type cells, despite clustered nuclei. This work demonstrates that nuclei maintain autonomy at a submicrometer scale and simultaneously maintain a normal nucleocytoplasmic ratio across a syncytium up to the centimeter scale. C1 [Dundon, Samantha E. R.; Occhipinti, Patricia; Gladfelter, Amy S.] Dartmouth Coll, Dept Biol Sci, Hanover, NH 03755 USA. [Chang, Shyr-Shea; Roper, Marcus] Univ Calif Los Angeles, Dept Math, Los Angeles, CA 90095 USA. [Chang, Shyr-Shea; Roper, Marcus] Univ Calif Los Angeles, Dept Biomath, Los Angeles, CA 90095 USA. [Kumar, Abhishek; Shroff, Hari] Natl Inst Biomed Imaging & Bioengn, Sect High Resolut Opt Imaging, NIH, Bethesda, MD 20892 USA. [Gladfelter, Amy S.] Marine Biol Lab, Bell Ctr, Woods Hole, MA 02543 USA. RP Gladfelter, AS (reprint author), Dartmouth Coll, Dept Biol Sci, Hanover, NH 03755 USA.; Gladfelter, AS (reprint author), Marine Biol Lab, Bell Ctr, Woods Hole, MA 02543 USA. EM Amy.Gladfelter@Dartmouth.edu FU National Institutes of Health [R01-GM081506]; National Science Foundation GK-12 Program; Neukom Institute at Dartmouth College; Alfred P. Sloan Foundation; National Science Foundation [DMS-1351860]; National Institutes of Health Ruth L. Kirschstein National Research Service Award [T32-GM008185]; Intramural Research Programs of the National Institutes of Health National Institute of Biomedical Imaging and Bioengineering Whitman Investigator; Grass Foundation Programs at the Marine Biological Laboratory at Woods Hole FX We thank all Gladfelter lab members and Charles Cole, Erik Griffin, James Moseley, Roger Sloboda, and Hugh Roberts for discussions and critical reading of the manuscript. This work was supported by National Institutes of Health R01-GM081506 (A.S.G., S.E.R., and P.O.), the National Science Foundation GK-12 Program and the Neukom Institute at Dartmouth College (S.E.R.), the Alfred P. Sloan Foundation and National Science Foundation DMS-1351860 (M.R. and S.-S.C.), a National Institutes of Health Ruth L. Kirschstein National Research Service Award (T32-GM008185; S.-S.C.), and the Intramural Research Programs of the National Institutes of Health National Institute of Biomedical Imaging and Bioengineering Whitman Investigator and Grass Foundation Programs at the Marine Biological Laboratory at Woods Hole (A.K. and H.S.) NR 28 TC 0 Z9 0 U1 4 U2 4 PU AMER SOC CELL BIOLOGY PI BETHESDA PA 8120 WOODMONT AVE, STE 750, BETHESDA, MD 20814-2755 USA SN 1059-1524 EI 1939-4586 J9 MOL BIOL CELL JI Mol. Biol. Cell PD JUL 1 PY 2016 VL 27 IS 13 BP 2000 EP 2007 DI 10.1091/mbc.E16-02-0129 PG 8 WC Cell Biology SC Cell Biology GA DQ2CN UT WOS:000379008900003 PM 27193301 ER PT J AU Vaccari, M Gordon, SN Fourati, S Schifanella, L Liyanage, NPM Cameron, M Keele, BF Shen, XY Tomaras, GD Billings, E Rao, M Chung, AW Dowell, KG Bailey-Kellogg, C Brown, EP Ackerman, ME Vargas-Inchaustegui, DA Whitney, S Doster, MN Binello, N Pegu, P Montefiori, DC Foulds, K Quinn, DS Donaldson, M Liang, F Lore, K Roederer, M Koup, RA McDermott, A Ma, ZM Miller, CJ Phan, TB Forthal, DN Blackburn, M Caccuri, F Bissa, M Ferrari, G Kalyanaraman, V Ferrari, MG Thompson, D Robert-Guroff, M Ratto-Kim, S Kim, JH Michael, NL Phogat, S Barnett, SW Tartaglia, J Venzon, D Stablein, DM Alter, G Sekaly, RP Franchini, G AF Vaccari, Monica Gordon, Shari N. Fourati, Slim Schifanella, Luca Liyanage, Namal P. M. Cameron, Mark Keele, Brandon F. Shen, Xiaoying Tomaras, Georgia D. Billings, Erik Rao, Mangala Chung, Amy W. Dowell, Karen G. Bailey-Kellogg, Chris Brown, Eric P. Ackerman, Margaret E. Vargas-Inchaustegui, Diego A. Whitney, Stephen Doster, Melvin N. Binello, Nicolo Pegu, Poonam Montefiori, David C. Foulds, Kathryn Quinn, David S. Donaldson, Mitzi Liang, Frank Lore, Karin Roederer, Mario Koup, Richard A. McDermott, Adrian Ma, Zhong-Min Miller, Christopher J. Phan, Tran B. Forthal, Donald N. Blackburn, Matthew Caccuri, Francesca Bissa, Massinilliano Ferrari, Guido Kalyanaraman, Vaniambadi Ferrari, Maria G. Thompson, DeVon Robert-Guroff, Marjorie Ratto-Kim, Silvia Kim, Jerome H. Michael, Nelson L. Phogat, Sanjay Barnett, Susan W. Tartaglia, Jim Venzon, David Stablein, Donald M. Alter, Galit Sekaly, Rafick-Pierre Franchini, Genoveffa TI Adjuvant-dependent innate and adaptive immune signatures of risk of SIVmac251 acquisition SO NATURE MEDICINE LA English DT Article ID SIMIAN IMMUNODEFICIENCY VIRUS; HIV-1 VACCINE EFFICACY; NK CELLS; NITRIC-OXIDE; ACTIVATION; INFECTION; PROTECTION; ANTIBODIES; TRIAL; IMMUNOGENICITY AB A recombinant vaccine containing Aventis Pasteur's canarypox vector (ALVAC)-HIV and gp120 alum. decreased the risk of HIV acquisition in the RV144 vaccine trial. The substitution, of alum with the more immunogenic MF59 adjuvant is under consideration for the next efficacy human trial. We found here that an ALVAC-simian immunodeficiency virus (SIV) and gp120 alum (ALVAC-SIV + gp120) equivalent vaccine, but not an ALVAC-SIV + gp120 MF59 vaccine, was efficacious in delaying the onset of SIVmac251 in rhesus macaques, despite the higher immunogenicity of the latter adjuvant. Vaccine efficacy was associated with alum-induced, but not with MF59-induced, envelope (Env)-dependent mucosal innate lymphoid cells (ILCs) that produce interleukin (IL)-17, as well as with mucosal IgG to the gp120 variable region 2 (V2) and the expression of 12 genes, ten of which are part of the RAS pathway. The association between RAS activation and vaccine efficacy was also observed in an independent efficacious SIV-vaccine approach. Whether RAS activation, mucosal ILCs and antibodies to V2 are also important hallmarks of HIV-vaccine efficacy in humans will require further studies. C1 [Vaccari, Monica; Gordon, Shari N.; Schifanella, Luca; Liyanage, Namal P. M.; Doster, Melvin N.; Binello, Nicolo; Pegu, Poonam; Blackburn, Matthew; Caccuri, Francesca; Bissa, Massinilliano; Franchini, Genoveffa] NCI, Anim Models & Vaccine Sect, Bethesda, MD 20892 USA. [Fourati, Slim; Sekaly, Rafick-Pierre] Case Wetern Reserve, Dept Pathol, Cleveland, OH USA. [Schifanella, Luca] Univ Milan, L Sacco Hosp, Dept Biomed & Clin Sci, Milan, Italy. [Cameron, Mark] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH USA. [Keele, Brandon F.] Leidos Biomed Res Inc, Frederick Natl Lab, AIDS & Canc Virus Program, Frederick, MD USA. [Shen, Xiaoying; Tomaras, Georgia D.; Ferrari, Guido] Duke Human Vaccine Inst, Durham, NC USA. [Billings, Erik; Rao, Mangala; Ratto-Kim, Silvia; Kim, Jerome H.; Michael, Nelson L.] Walter Red Army Inst Res, US Mil HIV Res Program, Silver Spring, MD USA. [Chung, Amy W.; Alter, Galit] Massachusetts Inst Technol & Harvard, Massachusetts Gen Hosp, Ragon Inst, Boston, MA USA. [Dowell, Karen G.; Bailey-Kellogg, Chris] Darthmouth Coll, Dept Comp Sci, Hanover, NH USA. [Brown, Eric P.; Ackerman, Margaret E.] Dartmouth Coll, Thayer Sch Engn, Hanover, NH 03755 USA. [Vargas-Inchaustegui, Diego A.; Robert-Guroff, Marjorie] NCI, Immune Biol Retrovial Infect Sect, Bethesda, MD USA. [Whitney, Stephen; Kalyanaraman, Vaniambadi; Ferrari, Maria G.; Thompson, DeVon] Adv Biosci Labs, Rockville, MD USA. [Montefiori, David C.] Duke Univ, Med Ctr, Durham, NC USA. [Foulds, Kathryn; Quinn, David S.; Donaldson, Mitzi; Roederer, Mario; Koup, Richard A.; McDermott, Adrian] US Natl Inst Hlth, Vaccine Res Ctr, Bethesda, MD USA. [Liang, Frank; Lore, Karin] Karolinska Inst, Stockholm, Sweden. [Ma, Zhong-Min; Miller, Christopher J.] Univ Calif Davis, Calif Natl Primate Res Ctr, Davis, CA USA. [Phan, Tran B.; Forthal, Donald N.] Univ Calif Irvine, Irvine Sch Med, Irvine, CA USA. [Phogat, Sanjay; Tartaglia, Jim] Sanofi Pasteur, Swiftwater, PA USA. [Barnett, Susan W.] Novartis Vaccines & Diagonst Inc, Cambridge, MA USA. [Venzon, David] NCI, Biostat & Data Management Sect, NIH, Bethesda, MD USA. [Stablein, Donald M.] EMMES Corp, Rockville, MD USA. [Barnett, Susan W.] GSK Vaccines, Cambridge, MA USA. [Kim, Jerome H.] Int Vaccine Inst, Seoul, South Korea. RP Franchini, G (reprint author), NCI, Anim Models & Vaccine Sect, Bethesda, MD 20892 USA. EM franchig@mail.nih.gov OI Chung, Amy/0000-0003-0020-9704; Fourati, Slim/0000-0001-6609-7587 FU Simian Vaccine Evaluation Unit (SVEU) [HHSN266200600005C]; intramural US National Cancer Institute (NCI) program; extramural US National Institute of Allergy and Infectious Diseases (NIAID) program; US Army Medical Research and Material Command (USAMRMC) [W81XWH-07-2-0067]; Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc.; US Department of Defense; Collaboration for AIDS Vaccine Discovery (CAVD) grants from the Bill and Melinda Gates Foundation [OPP1032325, OPP1032817]; NCI; US National Institutes of Health (NIH) [HHSN261200800001E]; NIH [HHSN27201100016C]; Center for AIDS Research [AI064518]; Bill and Melinda Gates' Foundation [OPP111572]; NIH/NIAID [5R01AI102691]; Intramural Research Program of the Vaccine Research Center, NIAID, NIH; CAVD from the Bill and Melinda Gates Foundation [OPP1032325, R01 AI118581, R01 AI102715] FX We would like to thank T. Nolan and D. Abram for their editorial assistance, N. Miller and A. Shultz for their help in the study design, and J. Warren for support with systems biology and several antibody assays under Simian Vaccine Evaluation Unit (SVEU) contract number HHSN266200600005C, awarded to Advanced BioScience Laboratories, Inc. (ABL). This work was supported by the intramural US National Cancer Institute (NCI) program and the extramural US National Institute of Allergy and Infectious Diseases (NIAID) program, together with the US Army Medical Research and Material Command (USAMRMC) (W81XWH-07-2-0067), the Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc., the US Department of Defense, the Collaboration for AIDS Vaccine Discovery (CAVD) grants OPP1032325 and OPP1032817 from the Bill and Melinda Gates Foundation, and in part, with federal funds from the NCI, US National Institutes of Health (NIH), under contract no. HHSN261200800001E (to the whole team). We would like to acknowledge the following institutions for the grants supporting the authors: NIH primate grant HHSN27201100016C (D.M.); Center for AIDS Research grant AI064518 (G.F.); Bill and Melinda Gates' Foundation grant OPP111572 (M.E.A., C.B.K., E.F.B., K.G.D.); NIH/NIAID grant 5R01AI102691 (M.E.A, E.F.B.); Intramural Research Program of the Vaccine Research Center, NIAID, NIH, and CAVD from the Bill and Melinda Gates Foundation grants OPP1032325 (R.A.K.), R01 AI118581 and R01 AI102715 (D.F.). The views expressed are those of the authors and should not be construed to represent the positions of the US Army, the Department of Defense or the Department of Health and Human Services. Mention of trade names, commercial products, or organizations do not imply endorsement by the US Government. The following reagent was obtained through the NIH AIDS Reagent Program, Division of AIDS, NIAID, NIH: CEM.NKR CCR5+ by P. Creswell. The anti-alpha 4 beta 7 in APC was kindly provided by A. A. Ansari (cat. #11718, 1:50 dilution) through the NIH AIDS Reagent Program, Division of AIDS, NIAID. NR 31 TC 16 Z9 16 U1 4 U2 7 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1078-8956 EI 1546-170X J9 NAT MED JI Nat. Med. PD JUL PY 2016 VL 22 IS 7 BP 762 EP 770 DI 10.1038/nm.4105 PG 9 WC Biochemistry & Molecular Biology; Cell Biology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Cell Biology; Research & Experimental Medicine GA DQ7DK UT WOS:000379366900015 PM 27239761 ER PT J AU Xue, X Yang, JY He, Y Wang, LR Liu, P Yu, LS Bi, GH Zhu, MM Liu, YY Xiang, RW Yang, XT Fan, XY Wang, XM Qi, J Zhang, HJ Wei, T Cui, W Ge, GL Xi, ZX Wu, CF Liang, XJ AF Xue, Xue Yang, Jing-Yu He, Yi Wang, Li-Rong Liu, Ping Yu, Li-Sha Bi, Guo-Hua Zhu, Ming-Ming Liu, Yue-Yang Xiang, Rong-Wu Yang, Xiao-Ting Fan, Xin-Yu Wang, Xiao-Min Qi, Jia Zhang, Hong-Jie Wei, Tuo Cui, Wei Ge, Guang-Lu Xi, Zheng-Xiong Wu, Chun-Fu Liang, Xing-Jie TI Aggregated single-walled carbon nanotubes attenuate the behavioural and neurochemical effects of methamphetamine in mice SO NATURE NANOTECHNOLOGY LA English DT Article ID ELECTROCHEMICAL SENSORS; CEREBRAL-CORTEX; DOPAMINE; RECEPTORS; RAT; BIOMOLECULES; PLASTICITY; OXYTOCIN; NEURONS; COCAINE AB Methamphetamine (METH) abuse is a serious social and health problem worldwide. At present, there are no effective medications to treat METH addiction(1). Here, we report that aggregated single-walled carbon nanotubes (aSWNTs) significantly inhibited METH self-administration, METH-induced conditioned place preference and METH- or cue-induced relapse to drug-seeking behaviour in mice. The use of aSWNTs alone did not significantly alter the mesolimbic dopamine system, whereas pretreatment with aSWNTs attenuated METH-induced increases in extracellular dopamine in the ventral striatum. Electrochemical assays suggest that aSWNTs facilitated dopamine oxidation. In addition, aSWNTs attenuated METH-induced increases in tyrosine hydroxylase or synaptic protein expression. These findings suggest that aSWNTs may have therapeutic effects for treatment of METH addiction by oxidation of METH-enhanced extracellular dopamine in the striatum. C1 [Xue, Xue; Wang, Li-Rong; Wei, Tuo; Ge, Guang-Lu; Liang, Xing-Jie] Chinese Acad Sci, CAS Ctr Excellence Nanosci, Beijing 100190, Peoples R China. [Xue, Xue; Wang, Li-Rong; Wei, Tuo; Ge, Guang-Lu; Liang, Xing-Jie] Natl Ctr Nanosci & Technol China, Beijing 100190, Peoples R China. [Yang, Jing-Yu; Liu, Ping; Yu, Li-Sha; Zhu, Ming-Ming; Liu, Yue-Yang; Yang, Xiao-Ting; Fan, Xin-Yu; Wang, Xiao-Min; Cui, Wei; Wu, Chun-Fu] Shenyang Pharmaceut Univ, Dept Pharmacol, Shenyang 110016, Peoples R China. [He, Yi; Bi, Guo-Hua; Qi, Jia; Xi, Zheng-Xiong] NIDA, Intramural Res Program, NIH, Baltimore, MD 21224 USA. [Wang, Li-Rong; Ge, Guang-Lu] Natl Ctr Nanosci & Technol China, CAS Key Lab Standardizat & Measurement Nanotechno, Beijing 100190, Peoples R China. [Xiang, Rong-Wu] Shenyang Pharmaceut Univ, Dept Biopharmaceut Informat, Shenyang 110016, Peoples R China. [Zhang, Hong-Jie] Chinese Acad Sci, Inst Biophys, State Key Lab Biomacromol, Beijing 100101, Peoples R China. [Wei, Tuo; Liang, Xing-Jie] Natl Ctr Nanosci & Technol China, CAS Key Lab Biomed Effects Nanomat & Nanosafety, Beijing 100190, Peoples R China. RP Xi, ZX (reprint author), NIDA, Intramural Res Program, NIH, Baltimore, MD 21224 USA. EM zxi@mail.nih.gov; wucf@syphu.edu.cn; liangxj@nanoctr.cn FU National Key Scientific Project for New Drug Discovery and Development [2013ZX09301305]; National Natural Science Foundation key project [31430031]; National Distinguished Young Scholars grant [31225009]; National Natural Science Foundation in China [81373383]; State High-Tech Development Plan [2012AA020804, SS2014AA020708]; National Institute on Drug Abuse (NIDA), Intramural Research Program (IRP), National Institutes of Health (NIH) in the United States of America; Chinese Academy of Sciences (CAS), Hundred Talents Program [07165111ZX]; CAS Knowledge Innovation Program; Strategic Priority Research Program of the Chinese Academy of Sciences [XDA09030301]; external collaboration program of BIC, Chinese Academy of Science [121D11KYSB20130006] FX This work was supported by the National Key Scientific Project for New Drug Discovery and Development (2013ZX09301305), the National Natural Science Foundation key project (31430031), the National Distinguished Young Scholars grant (31225009) and the National Natural Science Foundation (No. 81373383) in China. This work was also supported by State High-Tech Development Plan (2012AA020804 and SS2014AA020708) and the National Institute on Drug Abuse (NIDA), Intramural Research Program (IRP), National Institutes of Health (NIH) in the United States of America. We also gratefully acknowledge support from the Chinese Academy of Sciences (CAS), Hundred Talents Program (07165111ZX), the CAS Knowledge Innovation Program, the Strategic Priority Research Program of the Chinese Academy of Sciences (XDA09030301) and the external collaboration program of BIC, Chinese Academy of Science (121D11KYSB20130006). We thank I. Hanson for English editing services. NR 32 TC 5 Z9 6 U1 21 U2 28 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1748-3387 EI 1748-3395 J9 NAT NANOTECHNOL JI Nat. Nanotechnol. PD JUL PY 2016 VL 11 IS 7 BP 613 EP + DI 10.1038/NNANO.2016.23 PG 10 WC Nanoscience & Nanotechnology; Materials Science, Multidisciplinary SC Science & Technology - Other Topics; Materials Science GA DQ9BY UT WOS:000379506600012 PM 26974957 ER PT J AU Bespalov, A Steckler, T Altevogt, B Koustova, E Skolnick, P Deaver, D Millan, MJ Bastlund, JF Doller, D Witkin, J Moser, P O'Donnell, P Ebert, U Geyer, MA Prinssen, E Ballard, T Macleod, M AF Bespalov, Anton Steckler, Thomas Altevogt, Bruce Koustova, Elena Skolnick, Phil Deaver, Daniel Millan, Mark J. Bastlund, Jesper F. Doller, Dario Witkin, Jeffrey Moser, Paul O'Donnell, Patricio Ebert, Ulrich Geyer, Mark A. Prinssen, Eric Ballard, Theresa Macleod, Malcolm TI Failed trials for central nervous system disorders do not necessarily invalidate preclinical models and drug targets SO NATURE REVIEWS DRUG DISCOVERY LA English DT Letter C1 [Bespalov, Anton] AbbVie, Neurosci Res, D-6706 Ludwigshafen, Germany. [Bespalov, Anton] Partnership Assessment & Accreditat Sci Practice, Aukopf 14-1, D-69118 Heidelberg, Germany. [Bespalov, Anton] Pavlov Med Univ, Inst Pharmacol, St Petersburg 197022, Russia. [Steckler, Thomas] Janssen Res & Dev, B-2340 Beerse, Belgium. [Altevogt, Bruce] Pfizer, Global Policy & Int Publ Affairs, New York, NY 10017 USA. [Koustova, Elena; Skolnick, Phil] NIDA, NIH, Bethesda, MD 20892 USA. [Deaver, Daniel] Alkermes, Nonclin Res & Dev, Waltham, MA 02451 USA. [Millan, Mark J.] Inst Rech Servier, F-78290 Croissy Sur Seine, France. [Bastlund, Jesper F.] H Lundbeck & Co AS, Neurosci Res, DK-2500 Valby, Denmark. [Doller, Dario] Lundbeck Res USA, Discovery Chem & DMPK, Paramus, NJ 07652 USA. [Doller, Dario] Concert Pharmaceut Inc, 99 Hayden Ave, Lexington, MA 02421 USA. [Witkin, Jeffrey] Eli Lilly & Co, Lilly Res Labs, Neurosci Discovery Res, Indianapolis, IN 46285 USA. [Moser, Paul] Pierre Fabre Res Inst, F-81106 Castres, France. [Moser, Paul] BIAL Portela & Ca SA, Ave Siderurgia Nacl, P-4745457 Sao Mamede Do Coronado, Portugal. [O'Donnell, Patricio] Pfizer, Neurosci & Pain Res Unit, Cambridge, MA 02139 USA. [Ebert, Ulrich] Boehringer Ingelheim Pharma GmbH & Co KG, D-55218 Ingelheim, Germany. [Geyer, Mark A.] Univ Calif San Diego, La Jolla, CA 92093 USA. [Prinssen, Eric; Ballard, Theresa] Roche Innovat Ctr Basel, Roche Pharma Res & Early Dev Neurosci Ophthalmol, CH-4070 Basel, Switzerland. [Macleod, Malcolm] Univ Edinburgh, Old Coll, South Bridge, Edinburgh EH8 9YL, Midlothian, Scotland. RP Bespalov, A (reprint author), AbbVie, Neurosci Res, D-6706 Ludwigshafen, Germany.; Bespalov, A (reprint author), Partnership Assessment & Accreditat Sci Practice, Aukopf 14-1, D-69118 Heidelberg, Germany.; Bespalov, A (reprint author), Pavlov Med Univ, Inst Pharmacol, St Petersburg 197022, Russia. EM anton.bespalov@paasp.net RI Bespalov, Anton/R-6506-2016 NR 10 TC 2 Z9 2 U1 1 U2 4 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1474-1776 EI 1474-1784 J9 NAT REV DRUG DISCOV JI Nat. Rev. Drug Discov. PD JUL PY 2016 VL 15 IS 7 PG 3 WC Biotechnology & Applied Microbiology; Pharmacology & Pharmacy SC Biotechnology & Applied Microbiology; Pharmacology & Pharmacy GA DQ5UH UT WOS:000379270000019 ER PT J AU Torres, OV Ladenheim, B Jayanthi, S Mccoy, MT Krasnova, IN Vautier, FA Cadet, JL AF Torres, Oscar V. Ladenheim, Bruce Jayanthi, Subramaniam McCoy, Michael T. Krasnova, Irina N. Vautier, Francois A. Cadet, Jean Lud TI An Acute Methamphetamine Injection Downregulates the Expression of Several Histone Deacetylases (HDACs) in the Mouse Nucleus Accumbens: Potential Regulatory Role of HDAC2 Expression SO NEUROTOXICITY RESEARCH LA English DT Article DE Methamphetamine; Histone deacetylase; Knockout-mouse; Epigenetics; HDAC2; Nucleus accumbens ID MESSENGER-RNA EXPRESSION; GENE-EXPRESSION; TUBULIN DEACETYLATION; ENDOTHELIAL-CELLS; IN-VIVO; BRAIN; MECHANISMS; INHIBITOR; CLONING; COCAINE AB Methamphetamine (METH) administration alters gene expression in the nucleus accumbens (NAc). We recently demonstrated that an acute METH injection produced prolonged increases in the expression of immediate early genes in the NAc of HDAC2-deficient mice, suggesting that HDAC2 might be an important regulator of gene expression in the rodent brain. Here, we tested the possibility that HDAC2 deletion might also impact METH-induced changes in the expression of various HDAC classes in the NAc. Wild-type (WT) and HDAC2 knockout (KO) mice were given a METH (20 mg/kg) injection, and NAc tissue was collected at 1, 2, and 8 h post treatment. We found that METH decreased HDAC3, HDAC4, HDAC7, HDAC8, and HDAC11 mRNA expression but increased HDAC6 mRNA levels in the NAc of WT mice. In contrast, the METH injection increased HDAC3, HDAC4, HDAC7, HDAC8, and HDAC11 mRNA levels in HDAC2KO mice. These observations suggest that METH may induce large-scale transcriptional changes in the NAc by regulating the expression of several HDACs, in part, via HDAC2-dependent mechanisms since some of the HDACs showed differential responses between the two genotypes. Our findings further implicate HDACs as potential novel therapeutic targets for neurotoxic complications associated with the abuse of certain psychostimulants. C1 [Torres, Oscar V.; Ladenheim, Bruce; Jayanthi, Subramaniam; McCoy, Michael T.; Krasnova, Irina N.; Cadet, Jean Lud] NIDA, Mol Neuropsychiatry Res Branch, DHHS, NIH,Intramural Res Program, 251 Bayview Blvd, Baltimore, MD 21224 USA. [Vautier, Francois A.] NIDA, Transgen Core Facil, DHHS, NIH,Intramural Res Program, 251 Bayview Blvd, Baltimore, MD 21224 USA. RP Cadet, JL (reprint author), NIDA, Mol Neuropsychiatry Res Branch, DHHS, NIH,Intramural Res Program, 251 Bayview Blvd, Baltimore, MD 21224 USA. EM jcadet@intra.nida.nih.gov FU DHHS/NIH/NIDA FX This study was supported by funds of the Intramural Research Program of the DHHS/NIH/NIDA. NR 65 TC 0 Z9 0 U1 3 U2 4 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1029-8428 EI 1476-3524 J9 NEUROTOX RES JI Neurotox. Res. PD JUL PY 2016 VL 30 IS 1 SI SI BP 32 EP 40 DI 10.1007/s12640-015-9591-3 PG 9 WC Neurosciences SC Neurosciences & Neurology GA DQ2UG UT WOS:000379058100003 PM 26721795 ER PT J AU Kraft, AD McPherson, CA Harry, GJ AF Kraft, Andrew D. McPherson, Christopher A. Harry, G. Jean TI Association Between Microglia, Inflammatory Factors, and Complement with Loss of Hippocampal Mossy Fiber Synapses Induced by Trimethyltin SO NEUROTOXICITY RESEARCH LA English DT Article DE Tumor necrosis factor; C1q; M1/M2 polarization; Interleukin 1; Synapse stripping; Microglia ID CENTRAL-NERVOUS-SYSTEM; APOPTOTIC CELLS; IN-VIVO; SYNAPTIC TERMINALS; ALZHEIMERS-DISEASE; CEREBRAL-ISCHEMIA; GRANULE NEURONS; BRAIN MICROGLIA; MESSENGER-RNA; RAT-BRAIN AB Complement-associated factors are implicated in pathogen presentation, neurodegeneration, and microglia resolution of tissue injury. To characterize complement activation with microglial clearance of degenerating mossy fiber boutons, hippocampal dentate granule neurons were ablated in CD-1 mice with trimethyltin (TMT; 2.2 mg/kg, i.p.). Neuronal apoptosis was accompanied by amoeboid microglia and elevations in tumor necrosis factor [Tnfa], interleukin 1 beta [Il1b], and Il6 mRNA and C1q protein. Inos mRNA levels were unaltered. Silver degeneration and synaptophysin staining indicated loss of synaptic innervation to CA3 pyramidal neurons. Reactive microglia with thickened bushy morphology showed co-localization of synaptophysin+ fragments. The initial response at 2 days post-TMT included transient elevations in Tnfa, Il1b, Il6, and Inos mRNA levels. A concurrent increase at 2 days was observed in arginase-1 [Arg1], Il10, transforming growth factor beta 1 [Tgfb1], and chitinase 3 like-3 [Ym1] mRNA levels. At 2 days, C1q protein was evident in the CA3 with elevated C1qa, C1qb, C3, Cr3a, and Cr3b mRNA levels. mRNA levels remained elevated at 5 days, returning to control by 14 days, corresponding to silver degeneration. mRNA levels for pentraxin3 (Ptx3) were elevated on day 2 and Ptx1 was not altered. Our data suggest an association between microglia reactivity, the induction of anti-inflammatory genes concurrent with pro-inflammatory genes and the expression of complement-associated factors with the degeneration of synapses following apoptotic neuronal loss. C1 [Kraft, Andrew D.; McPherson, Christopher A.; Harry, G. Jean] NIEHS, Neurotoxicol Grp, Natl Toxicol Program Lab, NIH, POB 12233,Mail Drop E1-07, Res Triangle Pk, NC 27709 USA. [Kraft, Andrew D.] US EPA, Natl Ctr Environm Assessment, Washington, DC 20460 USA. RP Harry, GJ (reprint author), NIEHS, Neurotoxicol Grp, Natl Toxicol Program Lab, NIH, POB 12233,Mail Drop E1-07, Res Triangle Pk, NC 27709 USA. EM kraft.andrew@epa.gov; harry@niehs.nih.gov FU Division of Intramural Research, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services [1Z01ES101623, ES021164]; Division of National Toxicology Program, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services [1Z01ES101623, ES021164] FX This research was supported by the Division of Intramural Research and the Division of National Toxicology Program, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services #1Z01ES101623 and ES021164. The authors graciously acknowledge the generous gift of C1q antibody from Dr. Andrea Tenner at the University of California-Irvine, and FD NeuroTechnologies for the CuAg staining. The views expressed in this article are those of the authors and they do not necessarily represent the views or policies of the US EPA. NR 87 TC 0 Z9 0 U1 2 U2 3 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1029-8428 EI 1476-3524 J9 NEUROTOX RES JI Neurotox. Res. PD JUL PY 2016 VL 30 IS 1 SI SI BP 53 EP 66 DI 10.1007/s12640-016-9606-8 PG 14 WC Neurosciences SC Neurosciences & Neurology GA DQ2UG UT WOS:000379058100005 PM 26892644 ER PT J AU Shungu, DC Mao, XL Gonzales, R Soones, TN Dyke, JP van der Veen, JW Kegeles, LS AF Shungu, Dikoma C. Mao, Xiangling Gonzales, Robyn Soones, Tacara N. Dyke, Jonathan P. van der Veen, Jan Willem Kegeles, Lawrence S. TI Brain -aminobutyric acid (GABA) detection in vivo with the J-editing H-1 MRS technique: a comprehensive methodological evaluation of sensitivity enhancement, macromolecule contamination and test-retest reliability SO NMR IN BIOMEDICINE LA English DT Article DE GABA; Glutamate; Glx; H-1 MRS; J-editing; mobile macromolecules; phased-array coil; test-retest reliability ID MAGNETIC-RESONANCE-SPECTROSCOPY; OBSESSIVE-COMPULSIVE DISORDER; MEGA-PRESS; GLUTAMATE-GLUTAMINE; REPRODUCIBILITY; SUPPRESSION; SPECTRA; CORTEX; QUANTIFICATION; SCHIZOPHRENIA AB Abnormalities in brain -aminobutyric acid (GABA) have been implicated in various neuropsychiatric and neurological disorders. However, in vivo GABA detection by H-1 MRS presents significant challenges arising from the low brain concentration, overlap by much stronger resonances and contamination by mobile macromolecule (MM) signals. This study addresses these impediments to reliable brain GABA detection with the J-editing difference technique on a 3-T MR system in healthy human subjects by: (i) assessing the sensitivity gains attainable with an eight-channel phased-array head coil; (ii) determining the magnitude and anatomic variation of the contamination of GABA by MM; and (iii) estimating the test-retest reliability of the measurement of GABA with this method. Sensitivity gains and test-retest reliability were examined in the dorsolateral prefrontal cortex (DLPFC), whereas MM levels were compared across three cortical regions: DLPFC, the medial prefrontal cortex (MPFC) and the occipital cortex (OCC). A three-fold higher GABA detection sensitivity was attained with the eight-channel head coil compared with the standard single-channel head coil in DLPFC. Despite significant anatomical variation in GABA + MM and MM across the three brain regions (p<0.05), the contribution of MM to GABA + MM was relatively stable across the three voxels, ranging from 41% to 49%, a non-significant regional variation (p=0.58). The test-retest reliability of GABA measurement, expressed as either the ratio to voxel tissue water (W) or to total creatine, was found to be very high for both the single-channel coil and the eight-channel phased-array coil. For the eight-channel coil, for example, Pearson's correlation coefficient of test vs. retest for GABA/W was 0.98 (R-2=0.96, p=0.0007), the percentage coefficient of variation (CV) was 1.25% and the intraclass correlation coefficient (ICC) was 0.98. Similar reliability was also found for the co-edited resonance of combined glutamate and glutamine (Glx) for both coils. Copyright (c) 2016 John Wiley & Sons, Ltd. C1 [Shungu, Dikoma C.; Mao, Xiangling; Dyke, Jonathan P.] Weill Cornell Med Coll, Dept Radiol, New York, NY USA. [Gonzales, Robyn; Soones, Tacara N.; Kegeles, Lawrence S.] Columbia Univ, Dept Psychiat, New York, NY USA. [van der Veen, Jan Willem] NIMH, Magnet Resonance Spect Core Unit, Bethesda, MD 20892 USA. [Kegeles, Lawrence S.] Columbia Univ, Dept Radiol, New York, NY USA. RP Shungu, DC (reprint author), Weill Cornell Med Coll, Citigrp Biomed Imaging Ctr, 516 E 72 St, New York, NY 10021 USA. EM dcs7001@med.cornell.edu OI Shungu, Dikoma/0000-0001-9452-2245 FU NIMH [1 R01 MH075895]; New York State Office of Mental Health; Lieber Center for Schizophrenia Research FX We are indebted to Napapon Sailasuta, PhD, for the initial coding of J-editing to run on GE scanners, and to R. Hurd, PhD (GE), and S. Kohler, PhD (GE), for assistance in porting the editing sequence from the GE 'LX' to the 'EXCITE' platform. Funding was provided by NIMH 1 R01 MH075895 (DCS), New York State Office of Mental Health, Lieber Center for Schizophrenia Research. NR 44 TC 2 Z9 2 U1 4 U2 6 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0952-3480 EI 1099-1492 J9 NMR BIOMED JI NMR Biomed. PD JUL PY 2016 VL 29 IS 7 BP 932 EP 942 DI 10.1002/nbm.3539 PG 11 WC Biophysics; Radiology, Nuclear Medicine & Medical Imaging; Spectroscopy SC Biophysics; Radiology, Nuclear Medicine & Medical Imaging; Spectroscopy GA DQ2JM UT WOS:000379028600009 PM 27173449 ER PT J AU Friedl, KE Hubbard, VS AF Friedl, Karl E. Hubbard, Van S. TI What Can We Learn from Critical Periods of Weight Gain in Military Personnel? SO OBESITY LA English DT Editorial Material ID OBESITY; OVERWEIGHT; SERVICE C1 [Friedl, Karl E.] US Army, Frederick, MD USA. [Hubbard, Van S.] US PHS, Bethesda, MD 20814 USA. [Hubbard, Van S.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Hubbard, VS (reprint author), US PHS, Bethesda, MD 20814 USA.; Hubbard, VS (reprint author), NIH, Bldg 10, Bethesda, MD 20892 USA. EM vshubbard@alumni.union.edu NR 7 TC 1 Z9 1 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1930-7381 EI 1930-739X J9 OBESITY JI Obesity PD JUL PY 2016 VL 24 IS 7 BP 1408 EP 1409 DI 10.1002/oby.21546 PG 2 WC Endocrinology & Metabolism; Nutrition & Dietetics SC Endocrinology & Metabolism; Nutrition & Dietetics GA DQ6GT UT WOS:000379303200002 PM 27345960 ER PT J AU Reinhardt, M Dey, S Noguchi, CT Zhang, YY Krakoff, J Thearle, MS AF Reinhardt, Martin Dey, Soumyadeep Noguchi, Constance Tom Zhang, Yuanyuan Krakoff, Jonathan Thearle, Marie S. TI Non-Hematopoietic Effects of Endogenous Erythropoietin on Lean Mass and Body Weight Regulation SO OBESITY LA English DT Article ID PIMA-INDIANS; CARBOHYDRATE OXIDATION; RESPIRATORY CHAMBER; ENERGY-EXPENDITURE; TESTOSTERONE; LEPTIN; GLUCOSE; OBESITY; HOMEOSTASIS; EXPRESSION AB Objective: To investigate the concurrent relationships between human plasma erythropoietin concentrations and energy expenditure (EE), body composition, plasma leptin concentrations, and associations with weight change. Methods: Plasma to measure erythropoietin and leptin; data for body composition; 24-h EE measured in a whole-room calorimeter; and 75 g oral glucose tolerance testing were available from 109 full-heritage Pima Indians (55% male) from a larger study designed to understand the causes of obesity. Seventy-nine subjects had data for weight at a later visit (mean follow-up = 4.3 +/- 1.9 years) to calculate percent weight change per year. Results: Erythropoietin, adjusted for covariates, correlated with 24-h EE (r = 0.26, P = 0.007), sleeping EE (r = 0.29, P = 0.003), fat-free mass (r = 0.19, P = 0.05), and fat mass (r = 0.27, P = 0.005), but not insulin or glucose measures. The association of erythropoietin with 24-h EE was fully mediated by fat-free mass. Erythropoietin associated with leptin in women (rho = 0.36, P = 0.01), but not in men (P = 0.9), independently from fat mass. The association of erythropoietin with percent weight change per year was in opposing directions (interaction: P = 0.002) in males (r = -0.35, P = 0.02) versus females (r = 0.37, P = 0.02). Conclusions: Non-hematopoietic endogenous erythropoietin action may be involved in body weight regulation in opposing directions in men and women, i.e., weight loss in men and weight gain in women. C1 [Reinhardt, Martin; Krakoff, Jonathan; Thearle, Marie S.] NIDDKD, Obes & Diabet Clin Res Sect, Phoenix Epidemiol & Clin Res Branch, NIH, Phoenix, AZ 85014 USA. [Reinhardt, Martin] Univ Leipzig, Dept Diagnost & Intervent Radiol, D-04109 Leipzig, Germany. [Dey, Soumyadeep; Noguchi, Constance Tom; Zhang, Yuanyuan] NIDDKD, Mol Med Branch, NIH, Bethesda, MD USA. RP Thearle, MS (reprint author), NIDDKD, Obes & Diabet Clin Res Sect, Phoenix Epidemiol & Clin Res Branch, NIH, Phoenix, AZ 85014 USA. EM martin.reinhardt@nih.gov FU Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases FX This research was supported by the Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases. NR 39 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1930-7381 EI 1930-739X J9 OBESITY JI Obesity PD JUL PY 2016 VL 24 IS 7 BP 1530 EP 1536 DI 10.1002/oby.21537 PG 7 WC Endocrinology & Metabolism; Nutrition & Dietetics SC Endocrinology & Metabolism; Nutrition & Dietetics GA DQ6GT UT WOS:000379303200018 PM 27222253 ER PT J AU Saharia, KK Petrovas, C Ferrando-Martinez, S Leal, M Luque, R Ive, P Luetkemeyer, A Havlir, D Koup, RA AF Saharia, Kapil K. Petrovas, Constantinos Ferrando-Martinez, Sara Leal, Manuel Luque, Rafael Ive, Prudence Luetkemeyer, Anne Havlir, Diane Koup, Richard A. TI Tuberculosis Therapy Modifies the Cytokine Profile, Maturation State, and Expression of Inhibitory Molecules on Mycobacterium tuberculosis-Specific CD4(+) T-Cells SO PLOS ONE LA English DT Article ID PULMONARY TUBERCULOSIS; DISEASE PROGRESSION; LATENT INFECTION; HIV-INFECTION; EXHAUSTION; RESPONSES; CTLA-4; PD-1; MICE; BLOCKADE AB Background Little is known about the expression of inhibitory molecules cytotoxic T-lymphocyte antigen-4 (CTLA-4) and programmed-death-1 (PD-1) on Mycobacterium tuberculosis (Mtb)-specific CD4 T-cells and how their expression is impacted by TB treatment. Methods Cryopreserved PBMCs from HIV-TB co-infected and TB mono-infected patients with untreated and treated tuberculosis (TB) disease were stimulated for six hours with PPD and stained. Using polychromatic flow cytometry, we characterized the differentiation state, cytokine profile, and inhibitory molecule expression on PPD-specific CD4 T-cells. Results In our HIV-TB co-infected cohort, TB treatment increased the proportion of PPD-specific CD4 T-cells co-producing IFN-gamma(+) IL-2(+) TNF-alpha(+) and IFN-gamma(+) IL-2(+) (p = 0.0004 and p = 0.0002, respectively) while decreasing the proportion of PPD-specific CD4 T-cells co-producing IFN-gamma(+) MIP1-beta(+) TNF-alpha(+) and IFN-gamma(+) MIP1-beta(+). The proportion of PPD-specific CD4 T-cells expressing an effector memory phenotype decreased (63.6% vs 51.6%, p = 0.0015) while the proportion expressing a central memory phenotype increased (7.8% vs. 21.7%, p = 0.001) following TB treatment. TB treatment reduced the proportion of PPD-specific CD4 T-cells expressing CTLA-4 (72.4% vs. 44.3%, p = 0.0005) and PD-1 (34.5% vs. 29.2%, p = 0.03). Similar trends were noted in our TB mono-infected cohort. Conclusion TB treatment alters the functional profile of Mtb-specific CD4 T-cells reflecting shifts towards a less differentiated maturational profile and decreases PD-1 and CTLA-4 expression. These could serve as markers of reduced mycobacterial burden. Further study is warranted. C1 [Saharia, Kapil K.] Univ Maryland, Sch Med, Inst Human Virol, Baltimore, MD 21201 USA. [Saharia, Kapil K.] Univ Maryland, Sch Med, Div Infect Dis, Baltimore, MD 21201 USA. [Saharia, Kapil K.; Petrovas, Constantinos; Ferrando-Martinez, Sara; Koup, Richard A.] NIAID, Immunol Lab, Vaccine Res Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. [Ferrando-Martinez, Sara] Hosp Gen Univ Gregorio Maranon, Lab InmunoBiol Mol, Madrid, Spain. [Ferrando-Martinez, Sara] Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain. [Ferrando-Martinez, Sara; Leal, Manuel] Virgen del Rocio Univ Hosp, Inst Biomed Seville, IBiS, Lab Immunovirol,Clin Unit Infect Dis Microbiol &, Seville, Spain. [Luque, Rafael] Virgen del Rocio Univ Hosp, Dept Infect Dis Microbiol & Prevent Med, Seville, Spain. [Ive, Prudence] Univ Witwatersrand, Fac Hlth Sci, Dept Internal Med, Clin HIV Res Unit, Johannesburg, South Africa. [Luetkemeyer, Anne; Havlir, Diane] Univ Calif San Francisco, Div HIV Infect Dis & Global Med, Zuckerberg San Francisco Gen Hosp, San Francisco, CA 94143 USA. RP Saharia, KK (reprint author), Univ Maryland, Sch Med, Inst Human Virol, Baltimore, MD 21201 USA.; Saharia, KK (reprint author), Univ Maryland, Sch Med, Div Infect Dis, Baltimore, MD 21201 USA.; Saharia, KK (reprint author), NIAID, Immunol Lab, Vaccine Res Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. EM ksaharia@ihv.umaryland.edu FU Intramural Research Program of the Vaccine Research Center, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH); NIAID, NIH [UM1 AI068634, UM1 AI068636, UM1 AI106701] FX This work was supported by the Intramural Research Program of the Vaccine Research Center, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH). Additional support was provided under Award Number UM1 AI068634, UM1 AI068636 and UM1 AI106701 funded by NIAID, NIH. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 40 TC 0 Z9 0 U1 1 U2 1 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD JUL 1 PY 2016 VL 11 IS 7 AR e0158262 DI 10.1371/journal.pone.0158262 PG 15 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA DQ0TX UT WOS:000378914900027 PM 27367521 ER PT J AU Kline, AE Leary, JB Radabaugh, HL Cheng, JP Bondi, CO AF Kline, Anthony E. Leary, Jacob B. Radabaugh, Hannah L. Cheng, Jeffrey P. Bondi, Corina O. TI Combination therapies for neurobehavioral and cognitive recovery after experimental traumatic brain injury: Is more better? SO PROGRESS IN NEUROBIOLOGY LA English DT Review DE Combination therapies; Controlled cortical impact; Environmental enrichment; Cognition; Fluid percussion; Neurobehavioral; Traumatic brain injury; Stem cells ID CORTICAL CONTUSION INJURY; FIBROBLAST-GROWTH-FACTOR; SPINAL-CORD-INJURY; IMPROVES FUNCTIONAL RECOVERY; FLUID-PERCUSSION INJURY; TUMOR-NECROSIS-FACTOR; MARROW STROMAL CELLS; VITAMIN-D HORMONE; CHRONIC METHYLPHENIDATE TREATMENT; RECEPTOR AGONIST 8-OH-DPAT AB Traumatic brain injury (TBI) is a significant health care crisis that affects two million individuals in the United Sates alone and over ten million worldwide each year. While numerous monotherapies have been evaluated and shown to be beneficial at the bench, similar results have not translated to the clinic. One reason for the lack of successful translation may be due to the fact that TBI is a heterogeneous disease that affects multiple mechanisms, thus requiring a therapeutic approach that can act on complementary, rather than single, targets. Hence, the use of combination therapies (i.e., polytherapy) has emerged as a viable approach. Stringent criteria, such as verification of each individual treatment plus the combination, a focus on behavioral outcome, and post-injury vs. pre-injury treatments, were employed to determine which studies were appropriate for review. The selection process resulted in 37 papers that fit the specifications. The review, which is the first to comprehensively assess the effects of combination therapies on behavioral outcomes after TBI, encompasses five broad categories (inflammation, oxidative stress, neurotransmitter dysregulation, neurotrophins, and stem cells, with and without rehabilitative therapies). Overall, the findings suggest that combination therapies can be more beneficial than monotherapies as indicated by 46% of the studies exhibiting an additive or synergistic positive effect versus on 19% reporting a negative interaction. These encouraging findings serve as an impetus for continued combination studies after TBI and ultimately for the development of successful clinically relevant therapies. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Kline, Anthony E.; Leary, Jacob B.; Radabaugh, Hannah L.; Cheng, Jeffrey P.; Bondi, Corina O.] Univ Pittsburgh, Phys Med & Rehabil, Pittsburgh, PA 15213 USA. [Kline, Anthony E.; Leary, Jacob B.; Radabaugh, Hannah L.; Cheng, Jeffrey P.; Bondi, Corina O.] Univ Pittsburgh, Safar Ctr Resuscitat Res, 3471 Fifth Ave,Suite 201, Pittsburgh, PA 15213 USA. [Bondi, Corina O.] Univ Pittsburgh, Neurobiol, Pittsburgh, PA 15213 USA. [Kline, Anthony E.] Univ Pittsburgh, Crit Care Med, Pittsburgh, PA 15213 USA. [Kline, Anthony E.] Univ Pittsburgh, Psychol, Pittsburgh, PA 15213 USA. [Kline, Anthony E.] Univ Pittsburgh, Ctr Neurosci, Pittsburgh, PA 15213 USA. [Kline, Anthony E.] Univ Pittsburgh, Ctr Neural Basis Cognit, Pittsburgh, PA 15213 USA. [Leary, Jacob B.] NIH, Dept Rehabil Med, Ctr Clin, MSC 1604, Bethesda, MD 20892 USA. RP Kline, AE (reprint author), Univ Pittsburgh, Safar Ctr Resuscitat Res, 3471 Fifth Ave,Suite 201, Pittsburgh, PA 15213 USA.; Kline, AE (reprint author), Univ Pittsburgh, Dept Phys Med & Rehabil, 3471 Fifth Ave,Suite 201, Pittsburgh, PA 15213 USA. EM klineae@upmc.edu FU National Institutes of Health [R01NS060005, R01HD069620, HD069620-S1, R01NS084967]; University of Pittsburgh Physicians/UPMC Academic Foundation FX This work was supported, in part, by the National Institutes of Health grants R01NS060005, R01HD069620, HD069620-S1, R01NS084967 (AEK) and the University of Pittsburgh Physicians/UPMC Academic Foundation (COB). NR 286 TC 5 Z9 5 U1 9 U2 11 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0301-0082 J9 PROG NEUROBIOL JI Prog. Neurobiol. PD JUL PY 2016 VL 142 BP 45 EP 67 PG 23 WC Neurosciences SC Neurosciences & Neurology GA DQ3HJ UT WOS:000379093100003 PM 27166858 ER PT J AU Hoane, JS Johnson, CL Morrison, JP Elmore, SA AF Hoane, Jessica S. Johnson, Crystal L. Morrison, James P. Elmore, Susan A. TI Comparison of Renal Amyloid and Hyaline Glomerulopathy in B6C3F1 Mice: An NTP Retrospective Study SO TOXICOLOGIC PATHOLOGY LA English DT Article DE renal glomerulus; amyloid; hyaline glomerulopathy; transmission electron microscopy; B6C3F1 mice; pulegone; autofluorescence ID CONGO RED FLUORESCENCE; LESIONS; DIAGNOSIS; COMPONENT AB Due to potential misdiagnosis of hyaline glomerulopathy (HG) for amyloidosis, a retrospective study of B6C3F1 mice from the National Toxicology Program (NTP) archives was undertaken to determine whether HG had occurred in prior NTP studies and, if so, whether these 2 glomerular lesions could be routinely discriminated. Kidney slides from 7 amyloid-positive control mice, 2 HG-positive control mice, 3 normal or negative control mice, and 41 potential HG mice (with renal-only deposits previously diagnosed as amyloid) were evaluated using hematoxylin and eosin (H&E), periodic acid Schiff (PAS), Congo red (CR), and Masson's trichrome (MT) stains. Utilizing these techniques, HG was reliably distinguished from amyloidosis. All 41 potential HG mice had glomerular deposits histochemically inconsistent with amyloid; the deposits were PAS positive and CR negative. Four of the 41 mice were selected for transmission electron microscopy of the glomerular deposits; ultrastructurally, the deposits in these animals were consistent with HG and not amyloid. Our findings indicate that HG is a spontaneous lesion in B6C3F1 mice of low occurrence, is commonly misdiagnosed as amyloidosis, and is more likely than amyloid to cause glomerular deposits in mice without evidence of deposits in other tissues. Also, HG can be distinguished from amyloid on H&E evaluation; however, the distinction is improved with use of PAS or CR staining and/or ultraviolet evaluation. C1 [Hoane, Jessica S.; Johnson, Crystal L.; Morrison, James P.] Charles River Labs Inc, Durham, NC USA. [Elmore, Susan A.] NIEHS, NTP, 111 TW Alexander Dr, Res Triangle Pk, NC 27707 USA. RP Elmore, SA (reprint author), NIEHS, NTP, 111 TW Alexander Dr, Res Triangle Pk, NC 27707 USA. EM elmore@niehs.nih.gov FU Intramural Research Program of the National Institutes of Health (NIH); National Institute of Environmental Health Sciences (NIEHS) FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This research was supported [in part] by the Intramural Research Program of the National Institutes of Health (NIH) and the National Institute of Environmental Health Sciences (NIEHS). NR 18 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0192-6233 EI 1533-1601 J9 TOXICOL PATHOL JI Toxicol. Pathol. PD JUL PY 2016 VL 44 IS 5 BP 687 EP 704 DI 10.1177/0192623316630625 PG 18 WC Pathology; Toxicology SC Pathology; Toxicology GA DQ4LH UT WOS:000379174900007 PM 27000376 ER PT J AU Swartley, OM Foley, JF Livingston, DP Cullen, JM Elmore, SA AF Swartley, Olivia M. Foley, Julie F. Livingston, David P., III Cullen, John M. Elmore, Susan A. TI Histology Atlas of the Developing Mouse Hepatobiliary Hemolymphatic Vascular System with Emphasis on Embryonic Days 11.5-18.5 and Early Postnatal Development SO TOXICOLOGIC PATHOLOGY LA English DT Article DE vascular development; lymphatic development; hepatobiliary development; portal sinus; embryo; mouse; atlas ID ARYL-HYDROCARBON RECEPTOR; ENDOTHELIAL GROWTH-FACTOR; INTRAHEPATIC BILE-DUCTS; LYMPHATIC-SYSTEM; LIVER ORGANOGENESIS; ALAGILLE-SYNDROME; BILIARY-TRACT; AH RECEPTOR; HUMAN FETUS; ADRENOMEDULLIN AB A critical event in embryo development is the proper formation of the vascular system, of which the hepatobiliary system plays a pivotal role. This has led researchers to use transgenic mice to identify the critical steps involved in developmental disorders associated with the hepatobiliary vascular system. Vascular development is dependent upon normal vasculogenesis, angiogenesis, and the transformation of vessels into their adult counterparts. Any alteration in vascular development has the potential to cause deformities or embryonic death. Numerous publications describe specific stages of vascular development relating to various organs, but a single resource detailing the stage-by-stage development of the vasculature pertaining to the hepatobiliary system has not been available. This comprehensive histology atlas provides hematoxylin & eosin and immunohistochemical-stained sections of the developing mouse blood and lymphatic vasculature with emphasis on the hepatobiliary system between embryonic days (E) 11.5-18.5 and the early postnatal period. Additionally, this atlas includes a 3-dimensional video representation of the E18.5 mouse venous vasculature. One of the most noteworthy findings of this atlas is the identification of the portal sinus within the mouse, which has been erroneously misinterpreted as the ductus venosus in previous publications. Although the primary purpose of this atlas is to identify normal hepatobiliary vascular development, potential embryonic abnormalities are also described. C1 [Swartley, Olivia M.; Cullen, John M.] N Carolina State Univ, Coll Vet Med, Raleigh, NC USA. [Foley, Julie F.; Elmore, Susan A.] NIEHS, Cellular & Mol Pathol Branch, Natl Toxicol Program, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. [Livingston, David P., III] USDA, Washington, DC 20250 USA. [Livingston, David P., III] N Carolina State Univ, Raleigh, NC 27695 USA. RP Elmore, SA (reprint author), NIEHS, POB 12233, Res Triangle Pk, NC 27709 USA. EM elmore@niehs.nih.gov FU Intramural Research Program of the National Institutes of Health (NIH), National Institute of Environmental Health Sciences (NIEHS) FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This research was supported (in part) by the Intramural Research Program of the National Institutes of Health (NIH), National Institute of Environmental Health Sciences (NIEHS). NR 58 TC 1 Z9 1 U1 1 U2 4 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0192-6233 EI 1533-1601 J9 TOXICOL PATHOL JI Toxicol. Pathol. PD JUL PY 2016 VL 44 IS 5 BP 705 EP 725 DI 10.1177/0192623316630836 PG 21 WC Pathology; Toxicology SC Pathology; Toxicology GA DQ4LH UT WOS:000379174900008 PM 26961180 ER PT J AU Rider, CV Chan, P Herbert, RA Kissling, GE Fomby, LM Hejtmancik, MR Witt, KL Waidyanatha, S Travlos, GS Kadiiska, MB AF Rider, Cynthia V. Chan, Po Herbert, Ron A. Kissling, Grace E. Fomby, Laurene M. Hejtmancik, Milton R. Witt, Kristine L. Waidyanatha, Suramya Travlos, Greg S. Kadiiska, Maria B. TI Dermal Exposure to Cumene Hydroperoxide: Assessing Its Toxic Relevance and Oxidant Potential SO TOXICOLOGIC PATHOLOGY LA English DT Article DE skin irritant; oxidizing agent; Ames assay; industrial chemical ID SALMONELLA MUTAGENICITY TESTS; TERT-BUTYL HYDROPEROXIDE; ISOLATED RAT HEPATOCYTES; FREE-RADICAL FORMATION; ORGANIC PEROXIDES; OXIDATIVE STRESS; MOUSE SKIN; MULTISTAGE CARCINOGENESIS; PRO/ANTIOXIDANT STATUS; TOPICAL EXPOSURE AB Cumene hydroperoxide (CHP) is a high production volume chemical that is used to generate phenol and acetone. Dermal exposure to CHP was hypothesized to result in systemic tissue toxicity, production of free radicals, and consequent decrease in plasma antioxidant levels. To evaluate the hypothesis and characterize the toxicity of CHP, male and female B6C3F1/N mice and F344/N rats were exposed to varying doses of CHP applied topically for 14 or 90 days. No significant changes in survival or body weight of mice and rats were observed following 14 days of exposure. However, 90 days of CHP exposure at the high dose (12 mg/kg) triggered a significant decrease (-15%) in the body weight of the male rat group only. Irritation of the skin was observed at the site of application and was characterized by inflammation and epidermal hyperplasia. In treated animals, histology of liver tissue, free radical generation, and antioxidant levels in blood plasma were not significantly changed as compared to the corresponding controls. Consistent with the lack of systemic damage, no increase in micronucleated erythrocytes was seen in peripheral blood. In conclusion, topical CHP application caused skin damage only at the application site and did not cause systemic tissue impairment. C1 [Rider, Cynthia V.; Chan, Po; Herbert, Ron A.; Witt, Kristine L.; Waidyanatha, Suramya; Travlos, Greg S.] NIEHS, Div Natl Toxicol Program, 111 TW Alexander Dr,POB 12233,MD K2-12, Res Triangle Pk, NC 27709 USA. [Kissling, Grace E.] NIEHS, Div Intramural Res, Biostat & Computat Biol Branch, POB 12233, Res Triangle Pk, NC 27709 USA. [Fomby, Laurene M.; Hejtmancik, Milton R.] Battelle Mem Inst, 505 King Ave, Columbus, OH 43201 USA. [Kadiiska, Maria B.] NIEHS, Div Intramural Res, Inflammat Immun & Dis Lab, POB 12233, Res Triangle Pk, NC 27709 USA. RP Rider, CV (reprint author), NIEHS, Div Natl Toxicol Program, 111 TW Alexander Dr,POB 12233,MD K2-12, Res Triangle Pk, NC 27709 USA. EM cynthia.rider@nih.gov FU NIH, National Institute of Environmental Health Sciences FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the NIH, National Institute of Environmental Health Sciences. NR 46 TC 0 Z9 0 U1 1 U2 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0192-6233 EI 1533-1601 J9 TOXICOL PATHOL JI Toxicol. Pathol. PD JUL PY 2016 VL 44 IS 5 BP 749 EP 762 DI 10.1177/0192623316636712 PG 14 WC Pathology; Toxicology SC Pathology; Toxicology GA DQ4LH UT WOS:000379174900011 PM 26985019 ER PT J AU Morgan, DL Jokinen, MP Johnson, CL Price, HC Gwinn, WM Bousquet, RW Flake, GP AF Morgan, Daniel L. Jokinen, Micheal P. Johnson, Crystal L. Price, Herman C. Gwinn, William M. Bousquet, Ronald W. Flake, Gordon P. TI Chemical Reactivity and Respiratory Toxicity of the -Diketone Flavoring Agents: 2,3-Butanedione, 2,3-Pentanedione, and 2,3-Hexanedione SO TOXICOLOGIC PATHOLOGY LA English DT Article DE flavoring agents; obliterative bronchiolitis; fibrosis; pulmonary function; 2; 3-pentanedione (acetyl propionyl); 2; 3-butanedione (diacetyl); 2; 3-hexanedione (acetyl butyryl) ID VOLATILE ALDEHYDES; ACTIVE-SITE; METHYLGLYOXAL; GLYCATION; PROTEIN; BRONCHIOLITIS; INACTIVATION; WATERPIPE; DIACETYL; WORKERS AB Occupational exposure to 2,3-butanedione (BD) vapors has been associated with severe respiratory disease leading to the use of potentially toxic substitutes. We compared the reactivity and respiratory toxicity of BD with that of two structurally related substitutes, 2,3-pentanedione (PD) and 2,3-hexanedione (HD). Chemical reactivity of the diketones with an arginine substrate decreased with increasing chain length (BD > PD > HD). Animals were evaluated the morning after a 2-week exposure to 0, 100, 150, or 200 ppm BD, PD, or HD (postexposure) or 2 weeks later (recovery). Bronchial fibrosis was observed in 5/5 BD and 5/5 PD rats at 200 ppm and in 4/6 BD and 6/6 PD rats at 150 ppm in the postexposure groups. Following recovery, bronchial fibrosis was observed in all surviving rats exposed to 200 ppm BD (5/5) or PD (3/3) and in 2/10 BD and 7/9 PD rats exposed to 150 ppm. Bronchial fibrosis was observed only in 2/12 HD-exposed rats in the 200 ppm postexposure group. Patchy interstitial fibrosis affected lungs of recovery groups exposed to 200 ppm PD (3/3) or BD (1/5) and to 150 ppm PD (4/9) or BD (7/10) and correlated with pulmonary function deficits. BD and PD were more reactive and produced more bronchial fibrosis than HD. C1 [Morgan, Daniel L.; Gwinn, William M.; Flake, Gordon P.] NIEHS, POB 12233, Res Triangle Pk, NC 27709 USA. [Jokinen, Micheal P.] Integrated Syst Lab, Morrisville, NC USA. [Johnson, Crystal L.] Charles River Labs Inc, Durham, NC USA. [Price, Herman C.; Bousquet, Ronald W.] Alion Sci & Technol, Res Triangle Pk, NC USA. RP Morgan, DL (reprint author), NIEHS, Resp Toxicol, NTP, Mail Drop IF-00,POB 12233, Res Triangle Pk, NC 27709 USA. EM morgan3@niehs.nih.gov FU Intramural Research Program of the NIH, National Institute of Environmental Health Sciences FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This research was supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences. NR 28 TC 2 Z9 2 U1 2 U2 12 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0192-6233 EI 1533-1601 J9 TOXICOL PATHOL JI Toxicol. Pathol. PD JUL PY 2016 VL 44 IS 5 BP 763 EP 783 DI 10.1177/0192623316638962 PG 21 WC Pathology; Toxicology SC Pathology; Toxicology GA DQ4LH UT WOS:000379174900012 PM 27025954 ER PT J AU Botesteanu, DA Lipkowitz, S Lee, JM Levy, D AF Botesteanu, Dana-Adriana Lipkowitz, Stanley Lee, Jung-Min Levy, Doron TI Mathematical models of breast and ovarian cancers SO WILEY INTERDISCIPLINARY REVIEWS-SYSTEMS BIOLOGY AND MEDICINE LA English DT Review ID SERVICES TASK-FORCE; BRCA2 MUTATION CARRIERS; BILATERAL SALPINGO-OOPHORECTOMY; RANDOMIZED CONTROLLED-TRIAL; DISTAL FALLOPIAN-TUBE; CLINICAL-IMPLICATIONS; STEM-CELLS; RECOMMENDATION STATEMENT; MULTIDRUG-RESISTANCE; SECONDARY MUTATIONS AB Women constitute the majority of the aging United States (US) population, and this has substantial implications on cancer population patterns and management practices. Breast cancer is the most common women's malignancy, while ovarian cancer is the most fatal gynecological malignancy in the US. In this review, we focus on these subsets of women's cancers, seen more commonly in postmenopausal and elderly women. In order to systematically investigate the complexity of cancer progression and response to treatment in breast and ovarian malignancies, we assert that integrated mathematical modeling frameworks viewed from a systems biology perspective are needed. Such integrated frameworks could offer innovative contributions to the clinical women's cancers community, as answers to clinical questions cannot always be reached with contemporary clinical and experimental tools. Here, we recapitulate clinically known data regarding the progression and treatment of the breast and ovarian cancers. We compare and contrast the two malignancies whenever possible in order to emphasize areas where substantial contributions could be made by clinically inspired and validated mathematical modeling. We show how current paradigms in the mathematical oncology community focusing on the two malignancies do not make comprehensive use of, nor substantially reflect existing clinical data, and we highlight the modeling areas in most critical need of clinical data integration. We emphasize that the primary goal of any mathematical study of women's cancers should be to address clinically relevant questions. WIREs Syst Biol Med 2016, 8:337-362. doi: 10.1002/wsbm.1343 For further resources related to this article, please visit the . C1 [Botesteanu, Dana-Adriana; Levy, Doron] Univ Maryland, Dept Math, College Pk, MD 20742 USA. [Botesteanu, Dana-Adriana; Levy, Doron] Univ Maryland, Ctr Sci Computat & Math Modeling CSCAMM, College Pk, MD 20742 USA. [Botesteanu, Dana-Adriana; Lipkowitz, Stanley; Lee, Jung-Min] NCI, Womens Malignancies Branch, Ctr Canc Res, Bethesda, MD 20892 USA. RP Levy, D (reprint author), Univ Maryland, Dept Math, College Pk, MD 20742 USA.; Levy, D (reprint author), Univ Maryland, Ctr Sci Computat & Math Modeling CSCAMM, College Pk, MD 20742 USA. EM dlevy@math.umd.edu FU Intramural Research Program of the National Institutes of Health, Center for Cancer Research, National Cancer Institute as part of a seed grant from the UMD-NCI Partnership for Cancer Technology; John Simon Guggenheim Memorial Foundation FX The work was supported by the Intramural Research Program of the National Institutes of Health, Center for Cancer Research, National Cancer Institute as part of a seed grant from the UMD-NCI Partnership for Cancer Technology. The work of DL was supported in part by the John Simon Guggenheim Memorial Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 147 TC 0 Z9 0 U1 5 U2 8 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1939-5094 EI 1939-005X J9 WIRES SYST BIOL MED JI Wiley Interdiscip. Rev.-Syst. Biol PD JUL-AUG PY 2016 VL 8 IS 4 BP 337 EP 362 DI 10.1002/wsbm.1343 PG 26 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA DQ3BK UT WOS:000379077500005 PM 27259061 ER PT J AU Rocchi, A Milioto, C Parodi, S Armirotti, A Borgia, D Pellegrini, M Urciuolo, A Molon, S Morbidoni, V Marabita, M Romanello, V Gatto, P Blaauw, B Bonaldo, P Sambataro, F Robins, DM Lieberman, AP Soraru, G Vergani, L Sandri, M Pennuto, M AF Rocchi, Anna Milioto, Carmelo Parodi, Sara Armirotti, Andrea Borgia, Doriana Pellegrini, Matteo Urciuolo, Anna Molon, Sibilla Morbidoni, Valeria Marabita, Manuela Romanello, Vanina Gatto, Pamela Blaauw, Bert Bonaldo, Paolo Sambataro, Fabio Robins, Diane M. Lieberman, Andrew P. Soraru, Gianni Vergani, Lodovica Sandri, Marco Pennuto, Maria TI Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet SO ACTA NEUROPATHOLOGICA LA English DT Article DE Spinal and bulbar muscular atrophy; Androgen receptor; Skeletal muscle; mTOR; Rapamycin; PGC1 alpha; High-fat diet ID BULBAR MUSCULAR-ATROPHY; AMYOTROPHIC-LATERAL-SCLEROSIS; ANDROGEN RECEPTOR; SKELETAL-MUSCLE; MOUSE MODEL; HUNTINGTONS-DISEASE; ALZHEIMERS-DISEASE; PARKINSONS-DISEASE; MITOCHONDRIAL BIOGENESIS; ENERGY HOMEOSTASIS AB Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The mechanism by which expansion of polyglutamine in AR causes muscle atrophy is unknown. Here, we investigated pathological pathways underlying muscle atrophy in SBMA knock-in mice and patients. We show that glycolytic muscles were more severely affected than oxidative muscles in SBMA knock-in mice. Muscle atrophy was associated with early-onset, progressive glycolytic-to-oxidative fiber-type switch. Whole genome microarray and untargeted lipidomic analyses revealed enhanced lipid metabolism and impaired glycolysis selectively in muscle. These metabolic changes occurred before denervation and were associated with a concurrent enhancement of mechanistic target of rapamycin (mTOR) signaling, which induced peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PGC1 alpha) expression. At later stages of disease, we detected mitochondrial membrane depolarization, enhanced transcription factor EB (TFEB) expression and autophagy, and mTOR-induced protein synthesis. Several of these abnormalities were detected in the muscle of SBMA patients. Feeding knock-in mice a high-fat diet (HFD) restored mTOR activation, decreased the expression of PGC1 alpha, TFEB, and genes involved in oxidative metabolism, reduced mitochondrial abnormalities, ameliorated muscle pathology, and extended survival. These findings show early-onset and intrinsic metabolic alterations in SBMA muscle and link lipid/glucose metabolism to pathogenesis. Moreover, our results highlight an HFD regime as a promising approach to support SBMA patients. C1 [Rocchi, Anna; Milioto, Carmelo; Parodi, Sara; Pellegrini, Matteo; Pennuto, Maria] Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy. [Milioto, Carmelo; Pennuto, Maria] Univ Trento, Dulbecco Telethon Inst, Ctr Integrat Biol, I-38123 Trento, Italy. [Milioto, Carmelo] Univ Genoa, Dipartimento Med Sperimentale, I-16100 Genoa, Italy. [Parodi, Sara] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA. [Armirotti, Andrea] Ist Italiano Tecnol, Drug Discovery & Dev Dept, I-16100 Genoa, Italy. [Borgia, Doriana; Soraru, Gianni; Vergani, Lodovica] Univ Padua, Dept Neurosci, I-35100 Padua, Italy. [Urciuolo, Anna; Molon, Sibilla; Morbidoni, Valeria; Bonaldo, Paolo] Univ Padua, Dept Mol Med, I-35131 Padua, Italy. [Marabita, Manuela; Romanello, Vanina; Blaauw, Bert; Sandri, Marco] Univ Padua, Venetian Inst Mol Med, Dept Biomed Sci, I-35100 Padua, Italy. [Gatto, Pamela] Univ Trento, Ctr Integrat Biol, High Throughput Screening Core Facil, I-38123 Trento, Italy. [Sambataro, Fabio] Univ Udine, Dept Expt & Clin Med Sci DISM, I-33100 Udine, Italy. [Robins, Diane M.] Univ Michigan, Dept Human Genet, Sch Med, Ann Arbor, MI 48109 USA. [Lieberman, Andrew P.] Univ Michigan, Dept Pathol, Sch Med, Ann Arbor, MI 48109 USA. [Sandri, Marco] Telethon Inst Genet & Med, I-80100 Naples, Italy. [Pellegrini, Matteo] Univ Genoa, Dept Expt Med DIMES, Biochem Sect, Viale Benedetto 15 1, I-16132 Genoa, Italy. RP Pennuto, M (reprint author), Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy.; Pennuto, M (reprint author), Univ Trento, Dulbecco Telethon Inst, Ctr Integrat Biol, I-38123 Trento, Italy. EM MPennuto@Dti.Telethon.it RI blaauw, bert/A-7614-2014; OI blaauw, bert/0000-0002-3893-1463; Pennuto, Maria/0000-0001-8634-0767; BLAAUW, BERT/0000-0002-4167-5106 FU Telethon-Italy; Provincia Autonoma di Trento [TCP12013, TCR09003, TCP04009]; Marie-Curie Reintegration Grants [FP7-256448, FP7-276981]; Marie Curie International Outgoing Fellowships [PIOF-GA-2011-300723]; Italian Ministry of Health [RF-2011-02350097]; Association Francaise contre les Myopathies [18722]; Bando Progetti Strategici di Ateneo-University of Trento; Muscular Dystrophy Association [92333]; National Institutes of Health [R01 NS055746]; European Research Council [282310-MyoPHAGY] FX We thank Philippe Pierre (Marseille, France) for providing us with the anti-puromycin antibody, Monica Morini, Riccardo Navone, Tiziana Lucchetta, and Daniela Cantatore (Istituto Italiano di Tecnologia), and Viola Galligioni and Sergio Robbiati (University of Trento) for help with animals, Bruno Gavassini (University of Padova) for technical assistance, Giovanni Miotto (University of Padova) for comments and discussion on lipidomic analysis, Valentina Adami and Tarcisio Fedrizzi (University of Trento) for help with microarray data generation and analysis, and the network Telethon EuroBioBank. This work was supported by Telethon-Italy and Provincia Autonoma di Trento (TCP12013 to M.P., and TCR09003, TCP04009 to M.S.), Marie-Curie Reintegration Grants (FP7-256448 to M.P. and FP7-276981 to F.S.), Marie Curie International Outgoing Fellowships (PIOF-GA-2011-300723 to S.P.), Italian Ministry of Health (RF-2011-02350097 to G.S. and M.P.), Association Francaise contre les Myopathies (18722 to G.S. and M.P.), Bando Progetti Strategici di Ateneo-University of Trento (to M.P.), the Muscular Dystrophy Association (92333 to M.P.), the National Institutes of Health (R01 NS055746 to A.P.L.), and the European Research Council (282310-MyoPHAGY to M.S.). NR 109 TC 6 Z9 6 U1 6 U2 18 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0001-6322 EI 1432-0533 J9 ACTA NEUROPATHOL JI Acta Neuropathol. PD JUL PY 2016 VL 132 IS 1 BP 127 EP 144 DI 10.1007/s00401-016-1550-4 PG 18 WC Clinical Neurology; Neurosciences; Pathology SC Neurosciences & Neurology; Pathology GA DP9JD UT WOS:000378811600008 PM 26971100 ER PT J AU Pinkerton, LE Hein, MJ Grajewski, B Kamel, F AF Pinkerton, Lynne E. Hein, Misty J. Grajewski, Barbara Kamel, Freya TI Mortality from neurodegenerative diseases in a cohort of US flight attendants SO AMERICAN JOURNAL OF INDUSTRIAL MEDICINE LA English DT Article DE flight attendants; ALS; neurodegenerative diseases; mortality; cohort ID AMYOTROPHIC-LATERAL-SCLEROSIS; JAMAICA GINGER PARALYSIS; AIRCRAFT AIR-QUALITY; PESTICIDE EXPOSURE; HYDRAULIC FLUID; ENGINE OIL; DEATH; PHOSPHATE; RISK; ALS AB BackgroundConcern exists about the potential chronic neurological effects among aircrew of exposure to chemical contaminants from engine oil in aircraft cabin air. We evaluated mortality from neurodegenerative diseases among 11,311 former US flight attendants. MethodsVital status was ascertained through 2007, and life table analyses were conducted to obtain standardized mortality ratios (SMRs). ResultsAmyotrophic lateral sclerosis (ALS) mortality was over twice as high in the cohort as in the US general population, based on nine observed ALS deaths. There was no clear pattern in risk when SMRs for ALS were stratified by exposure duration. Mortality from other neurodegenerative diseases was not elevated. ConclusionsOur findings are limited due to small numbers of observed deaths and reliance on mortality data, but suggest that flight attendants may have an increased risk of ALS. Additional research is needed. Am. J. Ind. Med. 59:532-537, 2016. Published 2016. This article is a U.S. Government work and is in the public domain in the USA. C1 [Pinkerton, Lynne E.; Grajewski, Barbara] NIOSH, Div Surveillance Hazard Evaluat & Field Studies, Ind Studies Branch, 1090 Tusculum Ave,R-15, Cincinnati, OH 45226 USA. [Hein, Misty J.] CACI Inc, Cincinnati, OH USA. [Kamel, Freya] NIEHS, Epidemiol Branch, Res Triangle Pk, NC 27709 USA. RP Pinkerton, LE (reprint author), NIOSH, Div Surveillance Hazard Evaluat & Field Studies, Ind Studies Branch, 1090 Tusculum Ave,R-15, Cincinnati, OH 45226 USA. EM lep5@cdc.gov OI Kamel, Freya/0000-0001-5052-6615 FU Office of Women's Health of the U.S. Department of Health and Human Services; National Institute for Occupational Safety and Health; National Institutes of Health, National Institute of Environmental Health Sciences FX The study was funded by the Office of Women's Health of the U.S. Department of Health and Human Services and the intramural research programs of the National Institute for Occupational Safety and Health and the National Institutes of Health, National Institute of Environmental Health Sciences. NR 36 TC 0 Z9 0 U1 0 U2 9 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0271-3586 EI 1097-0274 J9 AM J IND MED JI Am. J. Ind. Med. PD JUL PY 2016 VL 59 IS 7 BP 532 EP 537 DI 10.1002/ajim.22608 PG 6 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA DP7TF UT WOS:000378701400003 PM 27184412 ER PT J AU Ilekis, JV Tsilou, E Fisher, S Abrahams, VM Soares, MJ Cross, JC Zamudio, S Illsley, NP Myatt, L Colvis, C Costantine, MM Haas, DM Sadovsky, Y Weiner, C Rytting, E Bidwell, G AF Ilekis, John V. Tsilou, Ekaterini Fisher, Susan Abrahams, Vikki M. Soares, Michael J. Cross, James C. Zamudio, Stacy Illsley, Nicholas P. Myatt, Leslie Colvis, Christine Costantine, Maged M. Haas, David M. Sadovsky, Yoel Weiner, Carl Rytting, Erik Bidwell, Gene TI Placental origins of adverse pregnancy outcomes: potential molecular targets: an Executive Workshop Summary of the Eunice Kennedy Shriver National Institute of Child Health and Human Development SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY LA English DT Article DE drugs; placenta; pregnancy; therapeutics; trial ID INTRAUTERINE GROWTH RESTRICTION; AMINO-ACID TRANSPORTERS; MATERNAL-FETAL INTERFACE; HUMAN TROPHOBLAST CELLS; INDUCED PRETERM BIRTH; MORPHOMETRIC DIFFUSING-CAPACITY; MICROVILLOUS PLASMA-MEMBRANE; RHO(D) IMMUNOGLOBULIN RHOGAM; HYPOXIA-INDUCIBLE FACTOR-1; SPONSORED CLINICAL-TRIALS AB Although much progress is being made in understanding the molecular pathways in the placenta that are involved in the pathophysiology of pregnancy-related disorders, a significant gap exists in the utilization of this information for the development of new drug therapies to improve pregnancy outcome. On March 5-6, 2015, the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health sponsored a 2-day workshop titled Placental Origins of Adverse Pregnancy Outcomes: Potential Molecular Targets to begin to address this gap. Particular emphasis was given to the identification of important molecular pathways that could serve as drug targets and the advantages and disadvantages of targeting these particular pathways. This article is a summary of the proceedings of that workshop. A broad number of topics were covered that ranged from basic placental biology to clinical trials. This included research in the basic biology of placentation, such as trophoblast migration and spiral artery remodeling, and trophoblast sensing and response to infectious and noninfectious agents. Research findings in these areas will be critical for the formulation of the development of future treatments and the development of therapies for the prevention of a number of pregnancy disorders of placental origin that include preeclampsia, fetal growth restriction, and uterine inflammation. Research was also presented that summarized ongoing clinical efforts in the United States and in Europe that has tested novel interventions for preeclampsia and fetal growth restriction, including agents such as oral arginine supplementation, sildenafil, pravastatin, gene therapy with virally delivered vascular endothelial growth factor, and oxygen supplementation therapy. Strategies were also proposed to improve fetal growth by the enhancement of nutrient transport to the fetus by modulation of their placental transporters and the targeting of placental mitochondrial dysfunction and oxidative stress to improve placental health. The roles of microRNAs and placental-derived exosomes, as well as messenger RNAs, were also discussed in the context of their use for diagnostics and as drug targets. The workshop discussed the aspect of safety and pharmacokinetic profiles of potential existing and new therapeutics that will need to be determined, especially in the context of the unique pharmacokinetic properties of pregnancy and the hurdles and pitfalls of the translation of research findings into practice. The workshop also discussed novel methods of drug delivery and targeting during pregnancy with the use of macromolecular carriers, such as nanoparticles and biopolymers, to minimize placental drug transfer and hence fetal drug exposure. In closing, a major theme that developed from the workshop was that the scientific community must change their thinking of the pregnant woman and her fetus as a vulnerable patient population for which drug development should be avoided, but rather be thought of as a deprived population in need of more effective therapeutic interventions. C1 [Ilekis, John V.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Pregnancy & Perinatol Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD USA. [Tsilou, Ekaterini] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Obstet & Pediat Pharmacol & Therapeut Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD USA. [Fisher, Susan] Univ Calif San Francisco, Dept Obstet Gynecol & Reprod Sci, San Francisco, CA USA. [Abrahams, Vikki M.] Yale Univ, Sch Med, Obstet Gynecol & Reprod Sci, New Haven, CT USA. [Cross, James C.] Univ Calgary, Hlth Sci Ctr, Comparat Biol & Expt Med, Calgary, AB, Canada. [Soares, Michael J.] Univ Kansas, Med Ctr, Inst Reprod Hlth & Regenerat Med, Kansas City, KS 66103 USA. [Soares, Michael J.] Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66103 USA. [Zamudio, Stacy] Hackensack Univ, Med Ctr, Dept Obstet & Gynecol, Hackensack, NJ USA. [Illsley, Nicholas P.] Hackensack Univ, Med Ctr, Dept Obstet & Gynecol, Hackensack, NJ USA. [Myatt, Leslie] Univ Texas Hlth Sci Ctr San Antonio, Ctr Pregnancy & Newborn Res, San Antonio, TX 78229 USA. [Colvis, Christine] NIH, Therapeut Discovery Program, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA. [Costantine, Maged M.] Univ Texas Med Branch, Dept Obstet & Gynecol, Galveston, TX 77555 USA. [Haas, David M.] Indiana Univ, Dept Obstet & Gynecol, Indianapolis, IN 46204 USA. [Sadovsky, Yoel] Magee Womens Res Inst, Pittsburgh, PA USA. [Weiner, Carl] Univ Kansas, Med Ctr, Kansas City, KS 66103 USA. [Rytting, Erik] Univ Texas Med Branch, Dept Obstet & Gynecol, Galveston, TX 77555 USA. [Bidwell, Gene] Univ Mississippi, Med Ctr, Dept Neurol, Jackson, MS 39216 USA. RP Ilekis, JV (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Pregnancy & Perinatol Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD USA.; Tsilou, E (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Obstet & Pediat Pharmacol & Therapeut Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD USA. EM ilekisj@mail.nih.gov; tsiloue@mail.nih.gov FU Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health FX This supplement was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, for the benefit of the American public. NR 465 TC 3 Z9 3 U1 6 U2 13 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0002-9378 EI 1097-6868 J9 AM J OBSTET GYNECOL JI Am. J. Obstet. Gynecol. PD JUL PY 2016 VL 215 IS 1 SU S BP S1 EP S46 DI 10.1016/j.ajog.2016.03.001 PG 46 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA DP6SX UT WOS:000378630200001 PM 26972897 ER PT J AU Manuck, TA Rice, MM Bailit, JL Grobman, WA Reddy, UM Wapner, RJ Thorp, JM Caritis, SN Prasad, M Tita, ATN Saade, GR Sorokin, Y Rouse, DJ Blackwell, SC Tolosa, JE AF Manuck, Tracy A. Rice, Madeline Murguia Bailit, Jennifer L. Grobman, William A. Reddy, Uma M. Wapner, Ronald J. Thorp, John M. Caritis, Steve N. Prasad, Mona Tita, Alan T. N. Saade, George R. Sorokin, Yoram Rouse, Dwight J. Blackwell, Sean C. Tolosa, Jorge E. CA Eunice Kennedy Shriver Natl Inst C TI Preterm neonatal morbidity and mortality by gestational age: a contemporary cohort SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY LA English DT Article DE neonatal morbidity; neonatal mortality; prematurity ID ACTIVE PERINATAL-CARE; BIRTH-WEIGHT OUTCOMES; NATIONAL INSTITUTE; RESEARCH NETWORK; CHILD HEALTH; INFANTS; TERM; INTERVENTIONS; RESTRICTION; DELIVERY AB BACKGROUND: Although preterm birth <37 weeks' gestation is the leading cause of neonatal morbidity and mortality in the United States, the majority of data regarding preterm neonatal outcomes come from older studies, and many reports have been limited to only very preterm neonates. Delineation of neonatal outcomes by delivery gestational age is needed to further clarify the continuum of mortality and morbidity frequencies among preterm neonates. OBJECTIVE: We sought to describe the contemporary frequencies of neonatal death, neonatal morbidities, and neonatal length of stay across the spectrum of preterm gestational ages. STUDY DESIGN: This was a secondary analysis of an obstetric cohort of 115,502 women and their neonates who were born in 25 hospitals nationwide, 2008 through 2011. All liveborn nonanomalous singleton preterm (23.0-36.9 weeks of gestation) neonates were included in this analysis. The frequency of neonatal death, major neonatal morbidity (intraventricular hemorrhage grade III/IV, seizures, hypoxic-ischemic encephalopathy, necrotizing enterocolitis stage II/III, bronchopulmonary dysplasia, persistent pulmonary hypertension), and minor neonatal morbidity (hypotension requiring treatment, intraventricular hemorrhage grade I/II, necrotizing enterocolitis stage I, respiratory distress syndrome, hyperbilirubinemia requiring treatment) were calculated by delivery gestational age; each neonate was classified once by the worst outcome for which criteria was met. RESULTS: In all, 8334 deliveries met inclusion criteria. There were 119 (1.4%) neonatal deaths. In all, 657 (7.9%) neonates had major morbidity, 3136 (37.6%) had minor morbidity, and 4422 (53.1%) survived without any of the studied morbidities. Deaths declined rapidly with each advancing week of gestation. This decline in death was accompanied by an increase in major neonatal morbidity, which peaked at 54.8% at 25 weeks of gestation. As frequencies of death and major neonatal morbidity fell, minor neonatal morbidity increased, peaking at 81.7% at 31 weeks of gestation. The frequency of all morbidities fell >32 weeks. After 25 weeks, neonatal length of hospital stay decreased significantly with each additional completed week of pregnancy; among babies delivered from 26-32 weeks of gestation, each additional week in utero reduced the subsequent length of neonatal hospitalization by a minimum of 8 days. The median postmenstrual age at discharge nadired around 36 weeks' postmenstrual age for babies born at 31-35 weeks of gestation. CONCLUSION: Our data show that there is a continuum of outcomes, with each additional week of gestation conferring survival benefit while reducing the length of initial hospitalization. These contemporary data can be useful for patient counseling regarding preterm outcomes. C1 [Manuck, Tracy A.] Univ Utah, Hlth Sci Ctr, Dept Obstet, Salt Lake City, UT USA. [Manuck, Tracy A.] Univ Utah, Hlth Sci Ctr, Dept Gynecol, Salt Lake City, UT USA. [Bailit, Jennifer L.] Case Western Reserve Univ, MetroHealth Med Ctr, Cleveland, OH 44106 USA. [Grobman, William A.] Northwestern Univ, Chicago, IL 60611 USA. [Wapner, Ronald J.] Columbia Univ, New York, NY USA. [Thorp, John M.] Univ N Carolina, Chapel Hill, NC USA. [Caritis, Steve N.] Univ Pittsburgh, Pittsburgh, PA USA. [Prasad, Mona] Ohio State Univ, Columbus, OH 43210 USA. [Tita, Alan T. N.] Univ Alabama Birmingham, Birmingham, AL USA. [Saade, George R.] Univ Texas Med Branch, Galveston, TX 77555 USA. [Sorokin, Yoram] Wayne State Univ, Detroit, MI USA. [Rouse, Dwight J.] Brown Univ, Providence, RI 02912 USA. [Blackwell, Sean C.] Univ Texas Hlth Sci Ctr Houston, Childrens Mem Hermann Hosp, Houston, TX 77030 USA. [Tolosa, Jorge E.] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. [Rice, Madeline Murguia] George Washington Univ, Ctr Biostat, Washington, DC USA. [Reddy, Uma M.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA. RP Manuck, TA (reprint author), Univ Utah, Hlth Sci Ctr, Dept Obstet, Salt Lake City, UT USA.; Manuck, TA (reprint author), Univ Utah, Hlth Sci Ctr, Dept Gynecol, Salt Lake City, UT USA. EM tmanuck@med.unc.edu FU Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [HD21410, HD27869, HD27915, HD27917, HD34116, HD34208, HD36801, HD40500, HD40512, HD40544, HD40545, HD40560, HD40485, HD53097, HD53118]; National Center for Research Resources [UL1 RR024989, 5UL1 RR025764]; NICHD [5K23HD067224] FX The project described was supported by grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (HD21410, HD27869, HD27915, HD27917, HD34116, HD34208, HD36801, HD40500, HD40512, HD40544, HD40545, HD40560, HD40485, HD53097, HD53118) and the National Center for Research Resources (UL1 RR024989; 5UL1 RR025764). This study was also funded by NICHD 5K23HD067224 (Dr Manuck). Comments and views of the authors do not necessarily represent views of the NICHD or National Institutes of Health. NR 28 TC 1 Z9 1 U1 4 U2 6 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0002-9378 EI 1097-6868 J9 AM J OBSTET GYNECOL JI Am. J. Obstet. Gynecol. PD JUL PY 2016 VL 215 IS 1 AR 103.e1-e14 DI 10.1016/j.ajog.2016.01.004 PG 14 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA DP6SV UT WOS:000378630000028 PM 26772790 ER PT J AU Shen, Z Liu, Y Dewidar, B Hu, JH Park, O Feng, T Xu, CF Yu, CH Li, Q Meyer, C Ilkavets, I Muller, A Stump-Guthier, C Munker, S Liebe, R Zimmer, V Lammert, F Mertens, PR Li, H ten Dijke, P Augustin, HG Li, J Gao, B Ebert, MP Dooley, S Li, YM Weng, HL AF Shen, Zhe Liu, Yan Dewidar, Bedair Hu, Junhao Park, Ogyi Feng, Teng Xu, Chengfu Yu, Chaohui Li, Qi Meyer, Christoph Ilkavets, Iryna Mueller, Alexandra Stump-Guthier, Carolin Munker, Stefan Liebe, Roman Zimmer, Vincent Lammert, Frank Mertens, Peter R. Li, Hai ten Dijke, Peter Augustin, Helhut G. Li, Jun Gao, Bin Ebert, Matthias P. Dooley, Steven Li, Youming Weng, Hong-Lei TI Delta-Like Ligand 4 Modulates Liver Damage by Down-Regulating Chemokine Expression SO AMERICAN JOURNAL OF PATHOLOGY LA English DT Article ID NOTCH SIGNALING PATHWAY; ALAGILLE-SYNDROME; MOLECULAR-MECHANISMS; ACUTE DECOMPENSATION; GROWTH-FACTOR; HUMAN JAGGED1; CELLS; FIBROSIS; FAILURE; DISEASE AB Disrupting Notch signaling ameliorates experimental liver fibrosis. However, the role of individual Notch ligands in Liver damage is unknown. We investigated the effects of Delta-like ligand 4 (0114) in Liver disease. DLL4 expression was measured in 31 human liver tissues by immunohistochemistry. 0114 function was examined in carbon tetrachloride and bile duct ligation challenged mouse models in vivo and evaluated in hepatic stellate cells, hepatocytes, and Kupffer cells in vitro. DLL4 was expressed in patients' Kupffer and liver sinusoidal endothelial cells. Recombinant D114 protein (rDll4) ameliorated hepatocyte apoptosis, inflammation, and fibrosis in mice after carbon tetrachloride challenge. In vitro, rDll4 significantly decreased lipopolysaccharide-dependent chemokine expression in both Kupffer and hepatic stellate cells. In bile duct Ligation mice, rDll4 induced massive hepatic necrosis, resulting in the death of all animals within 1 week. Inflammatory cell infiltration and chemokine ligand 2 (Cc12) expression were significantly reduced in rDll4-receiving bile duct ligation mice. Recombinant Cc12 rescued bile duct ligation mice from rDll4-mediated death. In patients with acute-on-chronic liver failure, DLL4 expression was inversely associated with CCL2 abundance. Mechanistically, 0114 regulated Ccl2 expression via NF-kappa B. Taken together, DL14 modulates liver inflammatory response by down-regulating chemokine expression. rDll4 application results in opposing outcomes in two models of liver damage. Loss of DLL4 may be associated with CCL2-mediated cytokine storm in patients with acute-on-chronic liver failure. C1 [Shen, Zhe; Xu, Chengfu; Yu, Chaohui; Li, Youming] Zhejiang Univ, Dept Gastroenterol, Affiliated Hosp 1, Coll Med, 79 Qingchun Rd, Hangzhou 310003, Zhejiang, Peoples R China. [Liu, Yan; Dewidar, Bedair; Feng, Teng; Li, Qi; Meyer, Christoph; Ilkavets, Iryna; Mueller, Alexandra; Stump-Guthier, Carolin; Munker, Stefan; Liebe, Roman; Ebert, Matthias P.; Dooley, Steven; Weng, Hong-Lei] Heidelberg Univ, Med Fac Mannheim, Dept Med 2, D-68167 Mannheim, Germany. [Augustin, Helhut G.] Heidelberg Univ, Med Fac Mannheim, Dept Vasc Biol & Tumor Angiogenesis, D-68167 Mannheim, Germany. [Stump-Guthier, Carolin] Heidelberg Univ, Med Fac Mannheim, Dept Pediat, Div Pediat Infect Dis, D-68167 Mannheim, Germany. [Liu, Yan; ten Dijke, Peter] Leiden Univ, Med Ctr, Dept Mol Cell Biol, Leiden, Netherlands. [Liu, Yan; ten Dijke, Peter] Leiden Univ, Med Ctr, Canc Genom Ctr Netherlands, Leiden, Netherlands. [Dewidar, Bedair] Tanta Univ, Fac Pharm, Dept Pharmacol & Toxicol, Tanta, Egypt. [Hu, Junhao; Augustin, Helhut G.] Heidelberg Univ Alliance, Ctr Mol Biol, Div Vasc Oncol & Metastasis, German Canc Res Ctr, Heidelberg, Germany. [Park, Ogyi; Gao, Bin] NIAAA, Lab Liver Dis, NIH, Bethesda, MD USA. [Liebe, Roman; Zimmer, Vincent; Lammert, Frank] Univ Saarland, Med Ctr, Dept Med 2, Homburg, Germany. [Mertens, Peter R.] Otto Von Guericke Univ, Clin Nephrol & Hypertens Diabet & Endocrinol, Magdeburg, Germany. [Li, Hai] Shanghai Jiao Tong Univ, Sch Med, Dept Gastroenterol, Renji Hosp, Shanghai 200030, Peoples R China. [Augustin, Helhut G.] German Canc Consortium, Heidelberg, Germany. [Li, Jun] Univ Med Ctr Hamburg Eppendorf, Dept Hepatobiliary Surg & Visceral Transplantat, Hamburg, Germany. RP Li, YM (reprint author), Zhejiang Univ, Dept Gastroenterol, Affiliated Hosp 1, Coll Med, 79 Qingchun Rd, Hangzhou 310003, Zhejiang, Peoples R China.; Weng, HL (reprint author), Heidelberg Univ, Med Fac Mannheim, Dept Med 2, Sect Mol Hepatol, Theodor Kutzer Ufer 1-3, D-68167 Mannheim, Germany. EM zlym@zju.edu.cn; honglei.weng@medma.uni-heidelberg.de FU Returned Overseas Chinese Scholars, State Education Ministry (Starting Research Foundation for the Returned Overseas Chinese Scholars), People's Republic of China [J20050337491010-G50523]; Federal Ministry of Education and Research Virtual Liver; FP/Marie Curie International Initial Training Networks in the Liver [SPB854/TP01, Me1365/7-2, Me1365/9-1]; Germany/China (German Academic Exchange Service - China Scholarship Council) Joint Research Program; intramural program of National Institute on Alcohol Abuse and Alcoholism, NIH; National Key Basic Research and Development Program of China-973 Program [2012CB524905]; National Science and technology support program of China [2012BAI06B04]; Zhejiang provincial laboratory animal science and technology program of China [2011C37088]; German Egyptian Research Long-Term Scholarship of DAAD/Egypt government; Federal Ministry of Education and Research - Virtual Liver Network FX Supported by the Returned Overseas Chinese Scholars, State Education Ministry (Starting Research Foundation for the Returned Overseas Chinese Scholars, J20050337491010-G50523), People's Republic of China (H.-L.W.), Federal Ministry of Education and Research Virtual Liver and FP/Marie Curie International Initial Training Networks in the Liver (P.t.D. and S.D.), SPB854/TP01, Me1365/7-2 and 9-1 (P.R.M.), Germany/China (German Academic Exchange Service - China Scholarship Council) Joint Research Program 2010/2011 (Z.S., C.X., Y.Li, C.M., S.D.), the intramural program of National Institute on Alcohol Abuse and Alcoholism, NIH (B.G.), the National Key Basic Research and Development Program of China-973 Program (2012CB524905; Y.Li), National Science and technology support program of China (2012BAI06B04; Y.Li), Zhejiang provincial laboratory animal science and technology program of China (2011C37088; Z.S.), German Egyptian Research Long-Term Scholarship of DAAD/Egypt government (B.D.), and Federal Ministry of Education and Research - Virtual Liver Network (S.D.). NR 41 TC 1 Z9 1 U1 0 U2 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0002-9440 EI 1525-2191 J9 AM J PATHOL JI Am. J. Pathol. PD JUL PY 2016 VL 186 IS 7 BP 1874 EP 1889 DI 10.1016/j.ajpath.2016.03.010 PG 16 WC Pathology SC Pathology GA DP8OV UT WOS:000378758400015 PM 27171900 ER PT J AU Wiggins, JL Brotman, MA Adleman, NE Kim, P Oakes, AH Reynolds, RC Chen, G Pine, DS Leibenluft, E AF Wiggins, Jillian Lee Brotman, Melissa A. Adleman, Nancy E. Kim, Pilyoung Oakes, Allison H. Reynolds, Richard C. Chen, Gang Pine, Daniel S. Leibenluft, Ellen TI Neural Correlates of Irritability in Disruptive Mood Dysregulation and Bipolar Disorders SO AMERICAN JOURNAL OF PSYCHIATRY LA English DT Article ID EMOTION LABELING DEFICITS; HEALTHY-VOLUNTEERS; FACIAL EXPRESSION; CHILDREN; RISK; PSYCHOPATHOLOGY; RECOGNITION; ADOLESCENTS; ACTIVATION; CIRCUITRY AB Objective: Bipolar disorder and disruptive mood dysregulation disorder (DMDD) are clinically and pathophysiologically distinct, yet irritability can be a clinical feature of both illnesses. The authors examine whether the neural mechanisms mediating irritability differ between bipolar disorder and DMDD, using a face emotion labeling paradigm because such labeling is deficient in both patient groups. The authors hypothesized that during face emotion labeling, irritability would be associated with dysfunctional activation in the amygdala and other temporal and prefrontal regions in both disorders, but that the nature of these associations would differ between DMDD and bipolar disorder. Method: During functional MRI acquisition, 71 youths (25 with DMDD, 24 with bipolar disorder, and 22 healthy youths) performed a labeling task with happy, fearful, and angry faces of varying emotional intensity. Results: Participants with DMDD and bipolar disorder showed similar levels of irritability and did not differ from each other or from healthy youths in face emotion labeling accuracy. Irritability correlated with amygdala activity across all intensities for all emotions in the DMDD group; such correlation was present in the bipolar disorder group only for fearful faces. In the ventral visual stream, associations between neural activity and irritability were found more consistently in the DMDD group than in the bipolar disorder group, especially in response to ambiguous angry faces. Conclusions: These results suggest diagnostic specificity in the neural correlates of irritability, a symptom of both DMDD and bipolar disorder. Such evidence of distinct neural correlates suggests the need to evaluate different approaches to treating irritability in the two disorders. C1 [Wiggins, Jillian Lee] NIMH, Emot & Dev Branch, Bethesda, MD 20892 USA. NIMH, Sci & Stat Comp Core, Bethesda, MD 20892 USA. San Diego State Univ, Dept Psychol, San Diego, CA 92182 USA. Catholic Univ Amer, Dept Psychol, Washington, DC 20064 USA. Univ Denver, Dept Psychol, Denver, CO 80208 USA. RP Wiggins, JL (reprint author), NIMH, Emot & Dev Branch, Bethesda, MD 20892 USA. EM jwiggins@mail.sdsu.edu RI Brotman, Melissa/H-7409-2013 FU Intramural Research Program of NIMH under NIH Clinical Study Protocols [02-M-0021, 00-M-0198] FX Supported by the Intramural Research Program of NIMH, conducted under NIH Clinical Study Protocols 02-M-0021 (ClinicalTrials.gov identifier: NCT00025935) and 00-M-0198 (ClinicalTrials.gov identifier: NCT00006177). NR 24 TC 11 Z9 11 U1 9 U2 12 PU AMER PSYCHIATRIC PUBLISHING, INC PI ARLINGTON PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA SN 0002-953X EI 1535-7228 J9 AM J PSYCHIAT JI Am. J. Psychiat. PD JUL PY 2016 VL 173 IS 7 BP 722 EP 730 DI 10.1176/appi.ajp.2015.15060833 PG 9 WC Psychiatry SC Psychiatry GA DQ1RB UT WOS:000378977000015 PM 26892942 ER PT J AU Marenco, S AF Marenco, Stefano TI Response to de la Fuente-Sandoval: Challenges Measuring GABA Levels in Patients With Psychosis SO AMERICAN JOURNAL OF PSYCHIATRY LA English DT Letter ID GAMMA-AMINOBUTYRIC-ACID; IN-VIVO; SCHIZOPHRENIA; GLUTAMATE C1 [Marenco, Stefano] NIMH, Clin & Translat Neurosci Branch, Intramural Res Program, Bethesda, MD 20892 USA. RP Marenco, S (reprint author), NIMH, Clin & Translat Neurosci Branch, Intramural Res Program, Bethesda, MD 20892 USA. NR 5 TC 0 Z9 0 U1 2 U2 2 PU AMER PSYCHIATRIC PUBLISHING, INC PI ARLINGTON PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA SN 0002-953X EI 1535-7228 J9 AM J PSYCHIAT JI Am. J. Psychiat. PD JUL PY 2016 VL 173 IS 7 BP 734 EP 735 DI 10.1176/appi.ajp.2016.16030261r PG 2 WC Psychiatry SC Psychiatry GA DQ1RB UT WOS:000378977000021 PM 27363557 ER PT J AU Cortes-Poch, I Hartog, CS AF Cortes-Poch, Irene Hartog, Christiane S. TI Change Is Not Necessarily Progress: Revision of the Sepsis Definition Should Be Based on New Scientific Insights SO AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE LA English DT Editorial Material ID INTERNATIONAL CONSENSUS DEFINITIONS; SEPTIC SHOCK SEPSIS-3; CLINICAL-CRITERIA; ORGAN FAILURE; THERAPIES C1 [Cortes-Poch, Irene] NIH, Dept Crit Care Med, Bldg 10, Bethesda, MD 20892 USA. [Hartog, Christiane S.] Jena Univ Hosp, Ctr Sepsis Control & Care, Jena, Germany. [Hartog, Christiane S.] Jena Univ Hosp, Dept Anesthesiol & Intens Care Med, Jena, Germany. RP Cortes-Poch, I (reprint author), NIH, Dept Crit Care Med, Bldg 10, Bethesda, MD 20892 USA. OI Cortes Puch, Irene/0000-0002-3639-5046 NR 13 TC 5 Z9 5 U1 1 U2 4 PU AMER THORACIC SOC PI NEW YORK PA 25 BROADWAY, 18 FL, NEW YORK, NY 10004 USA SN 1073-449X EI 1535-4970 J9 AM J RESP CRIT CARE JI Am. J. Respir. Crit. Care Med. PD JUL 1 PY 2016 VL 194 IS 1 BP 16 EP 18 PG 3 WC Critical Care Medicine; Respiratory System SC General & Internal Medicine; Respiratory System GA DQ1RW UT WOS:000378979100008 PM 27166972 ER PT J AU Ho, JE Gao, W Levy, D Santhanakrishnan, R Araki, T Rosas, IO Hatabu, H Latourelle, JC Nishino, M Dupuis, J Washko, GR O'Connor, GT Hunninghake, GM AF Ho, Jennifer E. Gao, Wei Levy, Daniel Santhanakrishnan, Rajalakshmi Araki, Tetsuro Rosas, Ivan O. Hatabu, Hiroto Latourelle, Jeanne C. Nishino, Mizuki Dupuis, Josee Washko, George R. O'Connor, George T. Hunninghake, Gary M. TI Galectin-3 Is Associated with Restrictive Lung Disease and Interstitial Lung Abnormalities SO AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE LA English DT Article DE biomarker; epidemiology; interstitial lung disease; pulmonary fibrosis ID IDIOPATHIC PULMONARY-FIBROSIS; HEART-FAILURE; PROGNOSTIC VALUE; INFLAMMATION; EXPRESSION; PNEUMONIA; MACROPHAGES; COMMUNITY; PROTEIN; MARKER AB Rationale: Galectin-3 (Gal-3) has been implicated in the development of pulmonary fibrosis in experimental studies, and Gal-3 levels have been found to be elevated in small studies of human pulmonary fibrosis. Objectives: We sought to study whether circulating Gal-3 concentrations are elevated early in the course of pulmonary fibrosis. Methods: We examined 2,596 Framingham Heart Study participants (mean age, 57 yr; 54% women; 14% current smokers) who underwent Gal-3 assessment using plasma samples and pulmonary function testing between 1995 and 1998. Of this sample, 1,148 underwent subsequent volumetric chest computed tomography. Measurements and Main Results: Higher Gal-3 concentrations were associated with lower lung volumes (1.4% decrease in percentage of predicted FEV1 per 1 SD increase in log Gal-3; 95% confidence interval [CI], 0.8-2.0%; P < 0.001; 1.2% decrease in percentage of predicted FVC; 95% CI, 0.6-1.8%; P < 0.001) and decreased diffusing capacity of the lung for carbon monoxide (2.1% decrease; 95% CI, 1.3-2.9%; P < 0.001). These associations remained significant after multivariable adjustment (P <= 0.008 for all). Compared with the lowest quartile, participants in the highest Gal-3 quartile were more than twice as likely to have interstitial lung abnormalities visualized by computed tomography (multivariable-adjusted odds ratio, 2.67; 95% CI, 1.49-4.76; P < 0.001). Conclusions: Elevated Gal-3 concentrations are associated with interstitial lung abnormalities coupled with a restrictive pattern, including decreased lung volumes and altered gas exchange. These findings suggest a potential role for Gal-3 in early stages of pulmonary fibrosis. C1 [Ho, Jennifer E.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Med,Div Cardiol, Boston, MA USA. [Ho, Jennifer E.; Levy, Daniel; Dupuis, Josee; O'Connor, George T.] NHLBI, Framingham Heart Study, Framingham, MA USA. [Gao, Wei; Dupuis, Josee] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA. [Levy, Daniel] NHLBI, Populat Sci Branch, Div Intramural Res, Bldg 10, Bethesda, MD 20892 USA. [Santhanakrishnan, Rajalakshmi] Boston Univ, Sch Med, Dept Med, Cardiovasc Med Sect, Boston, MA 02118 USA. [Latourelle, Jeanne C.; O'Connor, George T.] Boston Univ, Sch Med, Dept Med, Ctr Pulm, Boston, MA 02118 USA. [Latourelle, Jeanne C.] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA. [Araki, Tetsuro; Hatabu, Hiroto; Nishino, Mizuki; Washko, George R.; Hunninghake, Gary M.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Ctr Pulm Funct Imaging, Boston, MA 02115 USA. [Araki, Tetsuro; Hatabu, Hiroto; Nishino, Mizuki] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Radiol, Boston, MA 02115 USA. [Rosas, Ivan O.; Washko, George R.; Hunninghake, Gary M.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Med,Pulm & Crit Care Div, Boston, MA 02115 USA. RP Ho, JE (reprint author), Massachusetts Gen Hosp, Dept Med, Div Cardiol, CPZN 185 Cambridge St 3224, Boston, MA 02114 USA. EM jho1@mgh.harvard.edu FU NHLBI's Framingham Heart Study [N01-HC-25195, HHSN268201500001I]; National Institutes of Health [NIH] [R01 HL111024, K23-HL116780, 5K23-CA157631, R01 HL107246, R01 HL116473, R01 HL122464, P01 HL114501]; Boston University School of Medicine, Department of Medicine Career Investment Award FX This work was partially supported by the NHLBI's Framingham Heart Study (contract numbers N01-HC-25195 and HHSN268201500001I, and National Institutes of Health [NIH] grant R01 HL111024); NIH grants K23-HL116780 (J.E.H.), 5K23-CA157631 (M.N.), R01 HL107246 (G.R.W.), R01 HL116473 (G.R.W.), R01 HL122464 (G.R.W.), P01 HL114501 (I.O.R. and G.M.H.), and R01 HL111024 (G.M.H.); and a Boston University School of Medicine, Department of Medicine Career Investment Award (J.E.H.). Galectin-3 assays were provided by BG Medicine (Waltham, MA). NR 40 TC 5 Z9 5 U1 1 U2 1 PU AMER THORACIC SOC PI NEW YORK PA 25 BROADWAY, 18 FL, NEW YORK, NY 10004 USA SN 1073-449X EI 1535-4970 J9 AM J RESP CRIT CARE JI Am. J. Respir. Crit. Care Med. PD JUL 1 PY 2016 VL 194 IS 1 BP 77 EP 83 DI 10.1164/rccm.201509-1753OC PG 7 WC Critical Care Medicine; Respiratory System SC General & Internal Medicine; Respiratory System GA DQ1RW UT WOS:000378979100015 PM 26771117 ER PT J AU Summers, RM AF Summers, Ronald M. TI Progress in Fully Automated Abdominal CT Interpretation SO AMERICAN JOURNAL OF ROENTGENOLOGY LA English DT Review DE computer-aided detection; CT; image processing; CT; segmentation; volumetrics ID COMPUTER-AIDED DETECTION; DISTRIBUTED HUMAN INTELLIGENCE; RADICAL CYSTECTOMY IMPACT; POLYP DETECTION; VISCERAL FAT; SEMIAUTOMATED SEGMENTATION; OPTICAL COLONOSCOPY; TOMOGRAPHIC COLONOGRAPHY; MULTIORGAN SEGMENTATION; CURVATURE ESTIMATION AB OBJECTIVE. Automated analysis of abdominal CT has advanced markedly over just the last few years. Fully automated assessment of organs, lymph nodes, adipose tissue, muscle, bowel, spine, and tumors are some examples where tremendous progress has been made. Computer-aided detection of lesions has also improved dramatically. CONCLUSION. This article reviews the progress and provides insights into what is in store in the near future for automated analysis for abdominal CT, ultimately leading to fully automated interpretation. C1 [Summers, Ronald M.] NIH, Imaging Biomarkers & Comp Aided Diag Lab, Radiol & Imaging Sci, Ctr Clin, Bldg 10,Rm 1C224D,MSC 1182, Bethesda, MD 20892 USA. RP Summers, RM (reprint author), NIH, Imaging Biomarkers & Comp Aided Diag Lab, Radiol & Imaging Sci, Ctr Clin, Bldg 10,Rm 1C224D,MSC 1182, Bethesda, MD 20892 USA. EM rms@nih.gov FU iCAD Medical; Intramural Research Program of the National Institutes of Health, Clinical Center FX R. M. Summers receives patent royalties and has received research support from iCAD Medical.; Supported by the Intramural Research Program of the National Institutes of Health, Clinical Center. NR 182 TC 1 Z9 1 U1 6 U2 10 PU AMER ROENTGEN RAY SOC PI RESTON PA 1891 PRESTON WHITE DR, SUBSCRIPTION FULFILLMENT, RESTON, VA 22091 USA SN 0361-803X EI 1546-3141 J9 AM J ROENTGENOL JI Am. J. Roentgenol. PD JUL PY 2016 VL 207 IS 1 BP 67 EP 79 DI 10.2214/AJR.15.15996 PG 13 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA DP7DE UT WOS:000378658500016 PM 27101207 ER PT J AU Mitchell, RM Tajuddin, N Campbell, EM Neafsey, EJ Collins, MA AF Mitchell, Robert M. Tajuddin, Nuzhath Campbell, Edward M. Neafsey, Edward J. Collins, Michael A. TI Ethanol preconditioning of rat cerebellar cultures targets NMDA receptors to the synapse and enhances peroxiredoxin 2 expression SO BRAIN RESEARCH LA English DT Article DE Alcohol; Preconditioning; Neuroprotection; NMDA receptor; Peroxiredoxin 2; Deconvolution microscopy ID ALZHEIMERS-DISEASE; INDUCED NEUROTOXICITY; HIPPOCAMPAL-NEURONS; ANTIOXIDANT; MEMANTINE; KINASE; NEUROPROTECTION; INHIBITION; ACTIVATION; INDUCTION AB Epidemiological studies indicate that light-moderate alcohol (ethanol) consumers tend to have reduced risks of cognitive impairment and progression to dementia during aging. Exploring possible mechanisms, we previously found that moderate ethanol preconditioning (MEP, 20-30 mM) of rat brain cultures for several days instigated neuroprotection against beta-amyloid peptides. Our biochemical evidence implicated the NMDA receptor (NMDAR) as a potential neuroprotective "sensor", specifically via synaptic NMDAR signaling. It remains unclear how ethanol modulates the receptor and its downstream targets to engender neuroprotection. Here we confirm with deconvolution microscopy that MEP of rat mixed cerebellar cultures robustly increases synaptic NMDAR localization. Phosphoactivation of the non-receptor tyrosine kinases Src and Pyk2, known to be linked to synaptic NMDAR, is also demonstrated. Additionally, the preconditioning enhances levels of an antioxidant protein, peroxiredoxin 2 (Prx2), reported to be downstream of synaptic NMDAR signaling, and NMDAR antagonism with memantine (earlier found to abrogate MEP neuroprotection) blocks the Prx2 elevations. To further link Prx2 with antioxidant-based neuroprotection, we circumvented the ethanol preconditioning-NMDAR pathway by pharmacologically increasing Prx2 with the naturally-occurring cruciferous compound, 3H-1,2-dithiole-3-thione (D3T). Thus, D3T pretreatment elevated Prx2 expression to a similar extent as MEP, while concomitantly preventing beta-amyloid neurotoxicity; D3T also protected the cultures from hydrogen peroxide toxicity. The findings support a mechanism that couples synaptic NMDAR signaling, Prx2 expression and augmented antioxidant defenses in ethanol preconditioning induced neuroprotection. That this mechanism can be emulated by a cruciferous vegetable constituent suggests that such naturally-occurring "neutraceuticals" may be useful in therapy for oxidative stress related dementias. (C) 2016 Elsevier B.V. All rights reserved. C1 [Mitchell, Robert M.; Tajuddin, Nuzhath; Neafsey, Edward J.; Collins, Michael A.] Loyola Univ Chicago, Stritch Sch Med, Dept Mol Pharmacol & Therapeut, Maywood, IL 60153 USA. [Campbell, Edward M.] Loyola Univ Chicago, Stritch Sch Med, Dept Cell & Mol Physiol, Maywood, IL 60153 USA. [Mitchell, Robert M.] NICHHD, Lab Cellular & Synapt Physiol, NIH, Bethesda, MD 20892 USA. RP Collins, MA (reprint author), Loyola Univ Chicago, Stritch Sch Med, Dept Mol Pharmacol & Therapeut, Maywood, IL 60153 USA. EM mcollin@luc.edu FU NIH [R01 AA013568, T32 AA013527]; Illinois Department of Public Health Alzheimer's Disease Research Fund FX The research was supported by NIH R01 AA013568 and T32 AA013527, and the Illinois Department of Public Health Alzheimer's Disease Research Fund. NR 35 TC 0 Z9 0 U1 4 U2 6 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0006-8993 EI 1872-6240 J9 BRAIN RES JI Brain Res. PD JUL 1 PY 2016 VL 1642 BP 163 EP 169 DI 10.1016/j.brainres.2016.03.011 PG 7 WC Neurosciences SC Neurosciences & Neurology GA DP7EI UT WOS:000378661600019 PM 27021955 ER PT J AU Harp, D Driss, A Mehrabi, S Chowdhury, I Xu, W Liu, D Garcia-Barrio, M Taylor, RN Gold, B Jefferson, S Sidell, N Thompson, W AF Harp, Djana Driss, Adel Mehrabi, Sharifeh Chowdhury, Indrajit Xu, Wei Liu, Dong Garcia-Barrio, Minerva Taylor, Robert N. Gold, Bert Jefferson, Samantha Sidell, Neil Thompson, Winston TI Exosomes derived from endometriotic stromal cells have enhanced angiogenic effects in vitro SO CELL AND TISSUE RESEARCH LA English DT Article DE Exosomes; Endometrial stromal cells; Angiogenesis; MicroRNA; Infertility ID MENSTRUAL-CYCLE; CANCER; PROLIFERATION; PATHOGENESIS; FIBROBLASTS; BIOMARKERS; MICRORNAS; DIAGNOSIS; VESICLES; THERAPY AB Our objective has been to establish a pro-angiogenic role for exosomes in endometriosis and to determine whether a differential expression profile of cellular and exosomal microRNAs (miRNAs) exists in endometriosis. We performed an in vitro study of human primary endometrial stromal cells (ESCs) and human umbilical vein endothelial cells (HUVECs). We isolated and characterized exosomes from ESCs from five endometriosis patients and five phase-matched controls. Exosomes were characterized by transmission electron microscopy and NanoSight technology. MiRNA was assessed by deep sequencing and reverse transcription with quantitative polymerase chain reaction. Exosome uptake studies were achieved by means of confocal microscopy. The pro-angiogenic experiments were executed by treating HUVECs with ESC-derived exosomes. We observed differential profiles of exosomal miRNA expression between exosomes derived from endometriosis lesion cells and diseased eutopic stromal cells compared with exosomes derived from control ESCs. We also demonstrated autocrine cellular uptake of exosomes and paracrine functional angiogenic effects of exosomes on HUVECs. The results of this study support the hypothesis that exosomes derived from ESCs play autocrine/paracrine roles in the development of endometriosis, potentially modulating angiogenesis. The broader clinical implications are that Sampson's theory of retrograde menstruation possibly encompasses the finding that exosomes work as intercellular communication modulators in endometriosis. C1 [Harp, Djana; Driss, Adel; Mehrabi, Sharifeh; Chowdhury, Indrajit; Xu, Wei] Morehouse Sch Med, Dept Obstet & Gynecol, 720 Westview Dr SW, Atlanta, GA 30310 USA. [Liu, Dong; Garcia-Barrio, Minerva] Morehouse Sch Med, Cardiovasc Res Inst, 720 Westview Dr SW, Atlanta, GA 30310 USA. [Liu, Dong; Garcia-Barrio, Minerva; Thompson, Winston] Morehouse Sch Med, Dept Physiol, 720 Westview Dr SW, Atlanta, GA 30310 USA. [Taylor, Robert N.] Wake Forest Sch Med, Dept Obstet & Gynecol, 1 Med Ctr Blvd, Winston Salem, NC 27157 USA. [Gold, Bert] NCI, Ctr Canc Res, Frederick, MD 21702 USA. [Jefferson, Samantha] Georgia State Univ, POB 3965, Atlanta, GA 30302 USA. [Sidell, Neil] Emory Univ, Dept Gynecol & Obstet, Sch Med, 1639 Pierce Dr,WMB 4303, Atlanta, GA 30322 USA. RP Harp, D (reprint author), Morehouse Sch Med, Dept Obstet & Gynecol, 720 Westview Dr SW, Atlanta, GA 30310 USA. EM dharp@msm.edu; adel.driss@gmail.com; msharifeh@msm.edu; ichowdhury@msm.edu; wxu@msm.edu; dliu@msm.edu; mgarcia-barrio@msm.edu; rtaylor@wakehealth.edu; bgold@natera.com; sjefferson13@student.gsu.edu; nsidell@emory.edu; wthompson@msm.edu FU NIH [5U01HD066439, 1R01HD057235]; Research Centers in Minority Institutions from the National Institute of Minority Health and Health Disparities (NIMHD) [8G12MD007602]; [8U54MD007588] FX This work was supported by NIH grants 5U01HD066439 and 1R01HD057235. This publication was also supported by the Research Centers in Minority Institutions Grant Number 8G12MD007602 from the National Institute of Minority Health and Health Disparities (NIMHD) and 8U54MD007588. NR 44 TC 3 Z9 3 U1 10 U2 18 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0302-766X EI 1432-0878 J9 CELL TISSUE RES JI Cell Tissue Res. PD JUL PY 2016 VL 365 IS 1 BP 187 EP 196 DI 10.1007/s00441-016-2358-1 PG 10 WC Cell Biology SC Cell Biology GA DQ0GR UT WOS:000378877600016 PM 26841879 ER PT J AU Tsutsuki, H Yahiro, K Ogura, K Ichimura, K Iyoda, S Ohnishi, M Nagasawa, S Seto, K Moss, J Noda, M AF Tsutsuki, Hiroyasu Yahiro, Kinnosuke Ogura, Kohei Ichimura, Kimitoshi Iyoda, Sunao Ohnishi, Makoto Nagasawa, Sayaka Seto, Kazuko Moss, Joel Noda, Masatoshi TI Subtilase cytotoxin produced by locus of enterocyte effacement-negative Shiga-toxigenic Escherichia coli induces stress granule formation SO CELLULAR MICROBIOLOGY LA English DT Article DE subtilase cytotoxin; ER stress; stress granule; protein kinases ID PROTEIN-KINASE-D; NF-KAPPA-B; ENDOPLASMIC-RETICULUM STRESS; CYTOPLASMIC MESSENGER-RNA; AB(5) TOXIN; HELA-CELLS; C-MU; VIRULENCE FACTORS; BINDING PROTEINS; DOWN-REGULATION AB Subtilase cytotoxin (SubAB) is mainly produced by locus of enterocyte effacement (LEE)-negative strains of Shiga-toxigenic Escherichia coli (STEC). SubAB cleaves an endoplasmic reticulum (ER) chaperone, BiP/Grp78, leading to induction of ER stress. This stress causes activation of ER stress sensor proteins and induction of caspase-dependent apoptosis. We found that SubAB induces stress granules (SG) in various cells. Aim of this study was to explore the mechanism by which SubAB induced SG formation. Here, we show that SubAB-induced SG formation is regulated by activation of double-stranded RNA-activated protein kinase (PKR)-like endoplasmic reticulum kinase (PERK). The culture supernatant of STEC O113:H21 dramatically induced SG in Caco2 cells, although subAB knockout STEC O113:H21 culture supernatant did not. Treatment with phorbol 12-myristate 13-acetate (PMA), a protein kinase C (PKC) activator, and lysosomal inhibitors, NH4Cl and chloroquine, suppressed SubAB-induced SG formation, which was enhanced by PKC and PKD inhibitors. SubAB attenuated the level of PKD1 phosphorylation. Depletion of PKC and PKD1 by siRNA promoted SG formation in response to SubAB. Furthermore, death-associated protein 1 (DAP1) knockdown increased basal phospho-PKD1(S916) and suppressed SG formation by SubAB. However, SG formation by an ER stress inducer, Thapsigargin, was not inhibited in PMA-treated cells. Our findings show that SubAB-induced SG formation is regulated by the PERK/DAP1 signalling pathway, which may be modulated by PKC/PKD1, and different from the signal transduction pathway that results in Thapsigargin-induced SG formation. C1 [Yahiro, Kinnosuke; Ichimura, Kimitoshi; Noda, Masatoshi] Chiba Univ, Grad Sch Med, Dept Mol Infectiol, Chiba, Japan. [Nagasawa, Sayaka] Chiba Univ, Grad Sch Med, Dept Legal Med, Chiba, Japan. [Ogura, Kohei] Natl Ctr Global Hlth & Med, Res Inst, Pathogen Microbe Lab, Tokyo, Japan. [Tsutsuki, Hiroyasu] Kumamoto Univ, Grad Sch Med Sci, Dept Microbiol, Kumamoto, Japan. [Iyoda, Sunao; Ohnishi, Makoto] Natl Inst Infect Dis, Dept Bacteriol 1, Tokyo, Japan. [Seto, Kazuko] Osaka Prefectural Inst Publ Hlth, Div Bacteriol, Osaka, Japan. [Moss, Joel] NHLBI, Cardiovasc & Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Yahiro, K (reprint author), Chiba Univ, Grad Sch Med, Dept Mol Infectiol, Chiba, Japan. EM yahirok@faculty.chiba-u.jp FU Ministry of Education, Science and Culture of Japan; Improvement of Research Environment for Young Researchers from Japan Science and Technology Agency; Takeda Science Foundation; Research Program on Emerging and Re-emerging Infectious Diseases from Japan Agency for Medical Research and Development, AMED; Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute FX This work was supported by grants-in-aid for Scientific Research from the Ministry of Education, Science and Culture of Japan, Improvement of Research Environment for Young Researchers from Japan Science and Technology Agency, Takeda Science Foundation, and Research Program on Emerging and Re-emerging Infectious Diseases from Japan Agency for Medical Research and Development, AMED. Joel Moss was supported by the Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute. We acknowledge the expert technical assistance of K. Hirano. NR 100 TC 0 Z9 0 U1 0 U2 4 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1462-5814 EI 1462-5822 J9 CELL MICROBIOL JI Cell Microbiol. PD JUL PY 2016 VL 18 IS 7 BP 1024 EP 1040 DI 10.1111/cmi.12565 PG 17 WC Cell Biology; Microbiology SC Cell Biology; Microbiology GA DP7ZQ UT WOS:000378718100010 PM 26749168 ER PT J AU Kabytaev, K Connolly, S Rohlfing, CL Sacks, DB Stoyanov, AV Little, RR AF Kabytaev, Kuanysh Connolly, Shawn Rohlfing, Curt L. Sacks, David B. Stoyanov, Alexander V. Little, Randie R. TI Higher degree of glycation of hemoglobin S compared to hemoglobin A measured by mass spectrometry: Potential impact on HbA(1c) testing SO CLINICA CHIMICA ACTA LA English DT Article DE Hemoglobin A1c; Hemoglobin glycation; Mass spectrometry; Glycation sites; Hemoglobin S; Boronate affinity ID IFCC REFERENCE METHOD; TRAITS; GLYCOHEMOGLOBIN AB Background: Glycated hemoglobin (GHb), reported as HbA(1c), is used as marker of long-term glycemia for diabetic patients. HbA(1c) results from boronate affinity methods are generally considered to be unaffected by most hemoglobin variants; this assumes comparable glycation of variant and non-variant (HbAA) hemoglobins. In this report, glycation of HbA beta chain (beta A) and HbS beta chain (beta S) for the most common Hb variant trait (HbAS) are examined. Methods: We analyzed 41 blood samples from subjects with HbAS, both with and without diabetes. Using LC-MS, ratios of glycated HbS to glycated HbA were determined by comparison of areas under the curves from extracted ion chromatograms. Results: Glycation of beta S chains was significantly higher (p < 0.001) than beta A chains; this difference was consistent across subjects. Total (alpha + beta) glycated HbAS was theoretically estimated to be similar to 5% higher than glycated HbAA. Conclusion: This novel mass-spectrometric approach described allows for relative quantification of glycated forms of beta S and beta A. Although beta S glycation was significantly higher than that of beta A, the difference in total glycation of HbAS versus HbAA was smaller and unlikely to impact clinical interpretation of boronate affinity HbA(1c) results. These data support the continued use of boronate affinity to measure HbA(1c) in patients with HbAS. (C) 2016 Elsevier B.V. All rights reserved. C1 [Kabytaev, Kuanysh; Connolly, Shawn; Rohlfing, Curt L.; Stoyanov, Alexander V.; Little, Randie R.] Univ Missouri, Dept Pathol & Anat Sci, Columbia, MO 65212 USA. [Sacks, David B.] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. RP Stoyanov, AV; Little, RR (reprint author), Univ Missouri, Diabet Diagnost Lab, Dept Pathol & Anat Sci, 1 Hosp Dr, Columbia, MO 65212 USA. EM stoyanova@health.missouri.edu; littler@health.missouri.edu OI Kabytaev, Kuanysh/0000-0001-5219-5557 FU NIH/NIDDK [1UC4DK096587-01]; Agilent; University of Missouri Research Board FX We acknowledge the support of NIH/NIDDK (1UC4DK096587-01). We also acknowledge support from Agilent and the University of Missouri Research Board. We thank Dr. Dmitriy Shin for his help with signal processing and theoretical calculations. NR 13 TC 0 Z9 0 U1 2 U2 3 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0009-8981 EI 1873-3492 J9 CLIN CHIM ACTA JI Clin. Chim. Acta PD JUL 1 PY 2016 VL 458 BP 40 EP 43 DI 10.1016/j.cca.2016.04.027 PG 4 WC Medical Laboratory Technology SC Medical Laboratory Technology GA DP4GL UT WOS:000378454300008 PM 27112303 ER PT J AU Luiz, HV Tanchee, MJ Pavlatou, MG Yu, R Nambuba, J Wolf, K Prodanov, T Wesley, R Adams, K Fojo, T Pacak, K AF Luiz, Henrique Vara Tanchee, Mary Jane Pavlatou, Maria G. Yu, Run Nambuba, Joan Wolf, Katherine Prodanov, Tamara Wesley, Robert Adams, Karen Fojo, Tito Pacak, Karel TI Are patients with hormonally functional phaeochromocytoma and paraganglioma initially receiving a proper adrenoceptor blockade? A retrospective cohort study SO CLINICAL ENDOCRINOLOGY LA English DT Article ID PREOPERATIVE MANAGEMENT; CLINICAL-PRACTICE; PHENOXYBENZAMINE; METYROSINE; GUIDELINE; LABETALOL; THERAPY; UTILITY AB ObjectivePharmacological treatment is mandatory in patients with hormonally functional phaeochromocytoma and paraganglioma (PHAEO/PGL). We evaluated if patients initially diagnosed with hormonally functional PHAEO/PGL by various medical subspecialties received proper adrenoceptor blockade, and analysed factors predicting the prescription of adequate treatment. MethodsIn a retrospective cohort study, we reviewed data from patients initially diagnosed with hormonally functional PHAEO/PGL outside the National Institutes of Health and Cedars-Sinai Medical Center, who were referred to these institutions between January 2001 and April 2015. Logistic regression was used to assess factors associated with proper adrenoceptor blockade. ResultsA total of 381 patients were included. Adequate pharmacological treatment was prescribed to 693%, of which 931% received -adrenoceptor blockers. Regarding patients who were inappropriately treated, 53% did not receive any medication. Independent predictors of the prescription of a proper blockade were the diagnosis by endocrinologists [odds ratio (OR) 414; 95% confidence interval (CI), 251-685; P < 0001], the presence of high blood pressure (OR 594; 95% CI, 311-1133; P < 0001) and the evidence of metastasis (OR 596; 95% CI, 193-1846; P = 0002). ConclusionsAlthough most patients received adequate pharmacological treatment, almost one-third were either not treated or received inappropriate medications. The diagnosis by endocrinologists, the presence of high blood pressure and the evidence of metastatic disease were identified as independent predictors of a proper blockade. These results highlight the need to educate physicians about the importance of starting adequate adrenoceptor blockade in all patients with hormonally functional PHAEO/PGL. C1 [Luiz, Henrique Vara; Tanchee, Mary Jane; Nambuba, Joan; Wolf, Katherine; Prodanov, Tamara; Adams, Karen; Pacak, Karel] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Reprod & Adult Endocrinol, NIH, Bethesda, MD USA. [Luiz, Henrique Vara] Hosp Garcia de Orta, Dept Endocrinol & Diabetol, Almada, Portugal. [Tanchee, Mary Jane] Univ Santo Tomas Hosp, Sect Endocrinol & Metab, Manila, Philippines. [Pavlatou, Maria G.] NIMH, Clin Neuroendocrinol, NIH, Bethesda, MD 20892 USA. [Yu, Run] Cedars Sinai Med Ctr, Div Endocrinol, Los Angeles, CA 90048 USA. [Yu, Run] Cedars Sinai Med Ctr, Carcinoid & Neuroendocrine Tumour Ctr, Los Angeles, CA 90048 USA. [Wesley, Robert] NIH, Warren Grant Magnuson Clin Ctr, Bethesda, MD 20892 USA. [Fojo, Tito] NCI, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Pacak, K (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Med Neuroendocrinol, NIH, CRC, Bldg 10,Room 1E-3140,10 Ctr Dr MSC 1109, Bethesda, MD 20892 USA.; Pacak, K (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Med, Program Reprod & Adult Endocrinol, NIH,CRC, Bldg 10,Room 1E-3140,10 Ctr Dr MSC 1109, Bethesda, MD 20892 USA. EM karel@mail.nih.gov FU Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health FX This study was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health. NR 35 TC 4 Z9 4 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0300-0664 EI 1365-2265 J9 CLIN ENDOCRINOL JI Clin. Endocrinol. PD JUL PY 2016 VL 85 IS 1 BP 62 EP 69 DI 10.1111/cen.13066 PG 8 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DP5BX UT WOS:000378512100010 PM 26998836 ER PT J AU Chan, JL Koda, J Heilig, JS Cochran, EK Gorden, P Oral, EA Brown, RJ AF Chan, Jean L. Koda, Joy Heilig, Joseph S. Cochran, Elaine K. Gorden, Phillip Oral, Elif A. Brown, Rebecca J. TI Immunogenicity associated with metreleptin treatment in patients with obesity or lipodystrophy SO CLINICAL ENDOCRINOLOGY LA English DT Article ID LEPTIN-REPLACEMENT THERAPY; WEIGHT-LOSS; ADULTS AB ObjectiveRecombinant human leptin (metreleptin) improves glycaemia and hypertriglyceridaemia in patients with generalized lipodystrophy; antibody development with in vitro neutralizing activity has been reported. We aimed to characterize antimetreleptin antibody development, including in vitro neutralizing activity. DesignTwo randomized controlled studies in patients with obesity (twice-daily metreleptin pramlintide for 20-52 weeks; 2006-2009); two long-term, open-label studies in patients with lipodystrophy (once-daily or twice-daily metreleptin for 2 months to 123 years; 2000-2014). PatientsA total of 579 metreleptin-treated patients with obesity and 134 metreleptin-treated patients with lipodystrophy (antibody/neutralizing activity data: n = 105). MeasurementsAntimetreleptin antibodies, in vitro neutralizing activity. ResultsAntimetreleptin antibodies developed in most patients (obese: 96-100%; lipodystrophy: 86-92%). Peak antibody titers (approximately 1:125 to 1:3125) generally occurred within 4-6 months and decreased with continued therapy (lipodystrophy). Antibody development did not adversely impact efficacy or safety (patients with obesity), except for inflammatory injection site reactions, but was associated with elevated leptin concentrations. Three patients with obesity developed in vitro neutralizing activity coincident with weight gain. Weight later returned to baseline in one patient despite persistent neutralizing activity. Four patients with generalized lipodystrophy developed in vitro neutralizing activity concurrent with worsened metabolic control; two with confounding comorbidities had sepsis. One patient with lipodystrophy had resolution of neutralizing activity on metreleptin. ConclusionsDevelopment of in vitro neutralizing activity could be associated with loss of efficacy but has not been consistently associated with adverse clinical consequences. Whether neutralization of endogenous leptin with clinical consequences occurs remains unclear. C1 [Chan, Jean L.; Koda, Joy] Bristol Myers Squibb Co, Princeton, NJ USA. [Heilig, Joseph S.] AstraZeneca, San Diego, CA USA. [Cochran, Elaine K.; Gorden, Phillip; Brown, Rebecca J.] NIDDK, NIH, Bldg 10 CRC,Room 6-5942,10 Ctr Dr, Bethesda, MD 20892 USA. [Oral, Elif A.] Univ Michigan, Div Metab Endocrinol & Diabet MEND, Ann Arbor, MI 48109 USA. RP Brown, RJ (reprint author), NIDDK, NIH, Bldg 10 CRC,Room 6-5942,10 Ctr Dr, Bethesda, MD 20892 USA. EM brownrebecca@niddk.nih.gov FU AstraZeneca; Bristol-Myers Squibb Amylin Pharmaceuticals (a member of the AstraZeneca group of companies); Aegerion Pharmaceuticals, Inc.; NIH [UL1TR000433]; Nutrition Obesity Research Center (NORC) [P30 DK089503] FX The National Institutes of Health (NIH) study was supported by AstraZeneca, Bristol-Myers Squibb Amylin Pharmaceuticals (a member of the AstraZeneca group of companies) and Aegerion Pharmaceuticals, Inc., with provision of metreleptin and by the NIH for all other aspects of the study. FHA101 was an industry-sponsored (Amylin Pharmaceuticals Inc., Bristol-Myers Squibb, AstraZeneca, and Aegerion Pharmaceuticals, Inc.) expanded access protocol and used infrastructure at the University of Michigan supported by NIH Clinical and Translational Science Award (CTSA) grant UL1TR000433 and Nutrition Obesity Research Center (NORC) grant P30 DK089503. The DFA101, DFA102/E and DFA106 studies were industry-sponsored clinical trials conducted by Amylin Pharmaceuticals, Inc. Development of the manuscript was supported by AstraZeneca and Aegerion Pharmaceuticals, Inc. NR 25 TC 2 Z9 2 U1 1 U2 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0300-0664 EI 1365-2265 J9 CLIN ENDOCRINOL JI Clin. Endocrinol. PD JUL PY 2016 VL 85 IS 1 BP 137 EP 149 DI 10.1111/cen.12980 PG 13 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DP5BX UT WOS:000378512100020 PM 26589105 ER PT J AU Waryah, AM Shahzad, M Shaikh, H Sheikh, SA Channa, NA Hufnagel, RB Makhdoom, A Riazuddin, S Ahmed, ZM AF Waryah, A. M. Shahzad, M. Shaikh, H. Sheikh, S. A. Channa, N. A. Hufnagel, R. B. Makhdoom, A. Riazuddin, S. Ahmed, Z. M. TI A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred SO CLINICAL GENETICS LA English DT Article DE CHST3; osteochondrodysplasias; skeletal dysplasia; spondyloepiphyseal dysplasia ID PROGRESSIVE SPINAL INVOLVEMENT; OMANI-TYPE; CHONDRODYSPLASIA; DISLOCATIONS; DEFICIENCY; MUTATION AB Skeletal dysplasias (SDs) are highly heterogeneous disorders composed of 40 clinical sub-types that are part of 456 well-delineated syndromes in humans. Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with 14 affected individuals suffering with short stature, kyphoscoliosis, joint dislocations, clubfoot, heart valve anomalies and progressive bilateral mixed hearing loss. To identify pathogenic variants in this family, whole exome sequencing (WES) was performed in one affected and one normal individual, which revealed a novel transversion mutation (c.802G>T; p.Glu268*) in CHST3 associated with the phenotype. CHST3 encodes a chondroitin 6-O-sulfotransferase-1 (C6ST-1) enzyme that is essential for the sulfation of proteoglycans found in cartilages. Previously, mutations in CHST3 have largely been reported in sporadic cases of SD, primarily with severe spinal abnormalities, joint dislocations, joint contractures, and clubfoot. Clinical and radiological examination of the affected individuals in this family provides new insights into phenotypic spectrum of CHST3 alleles and disease progression with age. C1 [Waryah, A. M.; Shaikh, H.; Sheikh, S. A.] Liaquat Univ Med & Hlth Sci, Mol Biol & Genet Dept, Med Res Ctr, Jamshoro, Pakistan. [Shahzad, M.; Riazuddin, S.; Ahmed, Z. M.] Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA. [Channa, N. A.] Univ Sindh, Inst Biochem, Jamshoro, Pakistan. [Hufnagel, R. B.] Univ Cincinnati, Coll Med, Dept Pediat, Div Human Genet,Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA. [Hufnagel, R. B.] NEI, Unit Pediat Dev & Genet Ophthalmol, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA. [Makhdoom, A.] Liaquat Univ Med & Hlth Sci, Dept Orthoped Surg, Jamshoro, Pakistan. RP Ahmed, ZM (reprint author), Univ Maryland, Sch Med, Dept Otorhinolaryngol HNS, Baltimore, MD 21201 USA. EM zahmed@smail.umaryland.edu FU NIDCD/NIH [R01 DC011803, R01 DC012564]; LUMHS Intramural Funds FX We thank the family members for their participation and cooperation. This work was supported by the NIDCD/NIH (grant numbers R01 DC011803 and R01 DC012564 to S. R. and Z. M. A., respectively) and LUMHS Intramural Funds to A. M. W. NR 19 TC 1 Z9 1 U1 0 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0009-9163 EI 1399-0004 J9 CLIN GENET JI Clin. Genet. PD JUL PY 2016 VL 90 IS 1 BP 90 EP 95 DI 10.1111/cge.12694 PG 6 WC Genetics & Heredity SC Genetics & Heredity GA DP7AS UT WOS:000378652000012 PM 26572954 ER PT J AU Strauss, J Alewine, C Figg, WD Duffy, A AF Strauss, J. Alewine, C. Figg, W. D. Duffy, A. TI Targeting the microenvironment of pancreatic cancer: overcoming treatment barriers and improving local immune responses SO CLINICAL & TRANSLATIONAL ONCOLOGY LA English DT Review DE Pancreatic cancer; Microenvironment; Immune responses ID RESISTANT PROSTATE-CANCER; PHASE-III TRIAL; TUMOR-CELLS; MAGNETIC NANOPARTICLES; INCREASED SURVIVAL; SUPPRESSOR-CELLS; PLUS GEMCITABINE; CLINICAL-TRIALS; T-CELLS; IMMUNOTHERAPY AB Historically, patients diagnosed with metastatic pancreatic cancer have faced a grim prognosis. The survival benefit seen with systemic chemotherapies and even combinations thereof have been disappointing. However, growing data suggest that the microenvironment of pancreatic cancer may be contributing to this poor prognosis. This microenvironment has a dense fibrotic stroma, and is hypoxic and highly immunosuppressive, all of which pose barriers to treatment. Newer strategies looking to disrupt the fibrotic stroma, target hypoxic areas, and improve local immune responses in the tumor microenvironment are currently undergoing clinical evaluation and seem to offer great promise. In addition to these therapies, preclinical work evaluating novel cytotoxic agents including nanoparticles has also been encouraging. While much research still needs to be done, these strategies offer new hope for patients with pancreatic cancer. C1 [Strauss, J.; Duffy, A.] NCI, NIH, 9000 Rockville Pike,Bldg 10 Room 12 N-226, Bethesda, MD 20892 USA. [Alewine, C.] NCI, NIH, 9000 Rockville Pike,Bldg 37,Room 5116B, Bethesda, MD 20892 USA. [Figg, W. D.] NCI, NIH, 9000 Rockville Pike,Bldg 10 Room 5A-01, Bethesda, MD 20892 USA. RP Strauss, J (reprint author), NCI, NIH, 9000 Rockville Pike,Bldg 10 Room 12 N-226, Bethesda, MD 20892 USA. EM julius.strauss@nih.gov; alewinecc@mail.nih.gov; figgw@helix.nih.gov; duffya@mail.nih.gov RI Figg Sr, William/M-2411-2016 NR 51 TC 0 Z9 0 U1 5 U2 12 PU SPRINGER-VERLAG ITALIA SRL PI MILAN PA VIA DECEMBRIO, 28, MILAN, 20137, ITALY SN 1699-048X EI 1699-3055 J9 CLIN TRANSL ONCOL JI Clin. Transl. Oncol. PD JUL PY 2016 VL 18 IS 7 BP 653 EP 659 DI 10.1007/s12094-015-1459-8 PG 7 WC Oncology SC Oncology GA DP8RO UT WOS:000378765600001 PM 26661112 ER PT J AU Candemir, S Jaeger, S Antani, S Bagci, U Folio, LR Xu, ZY Thoma, G AF Candemir, Sema Jaeger, Stefan Antani, Sameer Bagci, Ulas Folio, Les R. Xu, Ziyue Thoma, George TI Atlas-based rib-bone detection in chest X-rays SO COMPUTERIZED MEDICAL IMAGING AND GRAPHICS LA English DT Article DE Chest X-rays; Rib bone extraction ID COMPUTER-AIDED DIAGNOSIS; IMAGE FEATURE ANALYSIS; DIGITAL RADIOGRAPHY; LABEL FUSION; SHAPE MODELS; BRAIN MRI; SEGMENTATION; CLASSIFICATION; CONSTRUCTION; SUPPRESSION AB This paper investigates using rib-bone atlases for automatic detection of rib-bones in chest X-rays (CXRs). We built a system that takes patient X-ray and model atlases as input and automatically computes the posterior rib borders with high accuracy and efficiency. In addition to conventional atlas, we propose two alternative atlases: (i) automatically computed rib bone models using Computed Tomography (CT) scans, and (ii) dual energy CXRs. We test the proposed approach with each model on 25 CXRs from the Japanese Society of Radiological Technology (JSRT) dataset and another 25 CXRs from the National Library of Medicine CXR dataset. We achieve an area under the ROC curve (AUC) of about 95% for Montgomery and 91% for JSRT datasets. Using the optimal operating point of the ROC curve, we achieve a segmentation accuracy of 88.91 +/- 1.8% for Montgomery and 85.48 +/- 3.3% for JSRT datasets. Our method produces comparable results with the state-of-the-art algorithms. The performance of our method is also excellent on challenging X-rays as it successfully addressed the rib-shape variance between patients and number of visible rib-bones due to patient respiration. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Candemir, Sema; Jaeger, Stefan; Antani, Sameer; Thoma, George] Natl Lib Med, Lister Hill Natl Ctr Biomed Commun, NIH, Bethesda, MD USA. [Folio, Les R.; Xu, Ziyue] NIH, Radiol & Imaging Sci, Bldg 10, Bethesda, MD 20892 USA. [Bagci, Ulas] Univ Cent Florida, Ctr Res Comp Vis, Orlando, FL 32816 USA. RP Candemir, S (reprint author), Natl Lib Med, Lister Hill Natl Ctr Biomed Commun, NIH, Bethesda, MD USA. EM sema.candemir@nih.gov; stefan.jaeger@nih.gov; sameer.antani@nih.gov; ulas.bagci@nih.gov; les.folio@nih.gov; ziyue.xu@nih.gov; george.thoma@nih.gov OI Bagci, Ulas/0000-0001-7379-6829 FU National Institutes of Health (NIH), National Library of Medicine (NLM); Lister Hill National Center for Biomedical Communications (LHNCBC) FX This research is supported by the Intramural Research Program of the National Institutes of Health (NIH), National Library of Medicine (NLM), and Lister Hill National Center for Biomedical Communications (LHNCBC). NR 45 TC 0 Z9 0 U1 2 U2 4 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0895-6111 EI 1879-0771 J9 COMPUT MED IMAG GRAP JI Comput. Med. Imaging Graph. PD JUL PY 2016 VL 51 BP 32 EP 39 DI 10.1016/j.compmedimag.2016.04.002 PG 8 WC Engineering, Biomedical; Radiology, Nuclear Medicine & Medical Imaging SC Engineering; Radiology, Nuclear Medicine & Medical Imaging GA DP5VR UT WOS:000378566800004 PM 27156048 ER PT J AU Larsson, HE Vehik, K Haller, MJ Liu, X Akolkar, B Hagopian, W Krischer, J Lernmark, A She, JX Simell, O Toppari, J Ziegler, AG Rewers, M AF Larsson, Helena Elding Vehik, Kendra Haller, Michael J. Liu, Xiang Akolkar, Beena Hagopian, William Krischer, Jeffrey Lernmark, Ake She, Jin-Xiong Simell, Olli Toppari, Jorma Ziegler, Anette-G. Rewers, Marian CA TEDDY Study Grp TI Growth and Risk for Islet Autoimmunity and Progression to Type 1 Diabetes in Early Childhood: The Environmental Determinants of Diabetes in the Young Study SO DIABETES LA English DT Article ID INCREASED LINEAR GROWTH; BODY-MASS INDEX; BIRTH-WEIGHT; INSULIN-RESISTANCE; ACCELERATOR HYPOTHESIS; GENERAL-POPULATION; AFFECTED CHILDREN; HLA GENOTYPES; INFANT GROWTH; AGE AB Increased growth in early childhood has been suggested to increase the risk of type 1 diabetes. This study explored the relationship between weight or height and development of persistent islet autoimmunity and progression to type 1 diabetes during the first 4 years of life in 7,468 children at genetic risk for type 1 diabetes followed in Finland, Germany, Sweden, and the U.S. Growth data collected every third month were used to estimate individual growth curves by mixed models. Cox proportional hazards models were used to evaluate body size and risk of islet autoimmunity and type 1 diabetes. In the overall cohort, development of islet autoimmunity (n = 575) was related to weight z scores at 12 months (hazard ratio [HR] 1.16 per 1.14 kg in males or per 1.02 kg in females, 95% CI 1.06-1.27, P < 0.001, false discovery rate [FDR] = 0.008) but not at 24 or 36 months. A similar relationship was seen between weight z scores and development of multiple islet autoantibodies (1 year: HR 1.21, 95% CI 1.08-1.35, P = 0.001, FDR = 0.008; 2 years: HR 1.18, 95% CI 1.06-1.32, P = 0.004, FDR = 0.02). No association was found between weight or height and type 1 diabetes (n = 169). In conclusion, greater weight in the first years of life was associated with an increased risk of islet autoimmunity. C1 [Larsson, Helena Elding; Lernmark, Ake] Lund Univ, Dept Clin Sci, Malmo, Sweden. [Vehik, Kendra; Liu, Xiang; Krischer, Jeffrey] Univ S Florida, Morsani Coll Med, Hlth Informat Inst, Tampa, FL USA. [Haller, Michael J.] Univ Florida, Dept Pediat, Gainesville, FL USA. [Akolkar, Beena] NIDDK, Bethesda, MD 20892 USA. [Hagopian, William] Pacific Northwest Diabet Res Inst, Seattle, WA USA. [She, Jin-Xiong] Georgia Regents Univ, Med Coll Georgia, Ctr Biotechnol & Genom Med, Augusta, GA USA. [Simell, Olli; Toppari, Jorma] Turku Univ Hosp, Dept Pediat, FIN-20520 Turku, Finland. [Toppari, Jorma] Univ Turku, Dept Physiol, Turku, Finland. [Toppari, Jorma] Univ Turku, Dept Pediat, Turku, Finland. [Ziegler, Anette-G.] Tech Univ Munich, Klinikum Rechts Isar, Helmholtz Zentrum Munchen, Diabet Res Inst, D-80290 Munich, Germany. [Ziegler, Anette-G.] Forsch Grp Diabet eV, Neuherberg, Germany. [Rewers, Marian] Univ Colorado Denver, Barbara Davis Ctr Childhood Diabet, Aurora, CO USA. RP Larsson, HE (reprint author), Lund Univ, Dept Clin Sci, Malmo, Sweden. EM helena.larsson@med.lu.se FU National Institute of Diabetes and Digestive and Kidney Diseases [U01-DK-63829, U01-DK-63861, U01-DK-63821, U01-DK-63865]; National Institute of Allergy and Infectious Diseases; National Institute of Child Health and Human Development; National Institute of Environmental Health Sciences; JDRF; Centers for Disease Control and Prevention [U01-DK-63863, U01-DK-63836, U01-DK-63790, UC4-DK-63829, UC4-DK-63861, UC4-DK-63821, UC4-DK-63865, UC4-DK-63863, UC4-DK-63836, UC4-DK-95300, UC4-DK-100238, HHSN267200700014C]; National Center for Advancing Translational Sciences, National Institutes of Health [UL1-TR-000064]; University of Colorado [UL1-TR-001082] FX This study was supported by grants from the National Institute of Diabetes and Digestive and Kidney Diseases (U01-DK-63829, U01-DK-63861, U01-DK-63821, U01-DK-63865), National Institute of Allergy and Infectious Diseases, National Institute of Child Health and Human Development, National Institute of Environmental Health Sciences, JDRF, Centers for Disease Control and Prevention (U01-DK-63863, U01-DK-63836, U01-DK-63790, UC4-DK-63829, UC4-DK-63861, UC4-DK-63821, UC4-DK-63865, UC4-DK-63863, UC4-DK-63836, UC4-DK-95300, and UC4-DK-100238, and contract no. HHSN267200700014C). This work was supported in part by the National Center for Advancing Translational Sciences, National Institutes of Health, Clinical and Translational Science Awards to the University of Florida (UL1-TR-000064) and the University of Colorado (UL1-TR-001082). NR 42 TC 1 Z9 1 U1 0 U2 0 PU AMER DIABETES ASSOC PI ALEXANDRIA PA 1701 N BEAUREGARD ST, ALEXANDRIA, VA 22311-1717 USA SN 0012-1797 EI 1939-327X J9 DIABETES JI Diabetes PD JUL PY 2016 VL 65 IS 7 BP 1988 EP 1995 DI 10.2337/db15-1180 PG 8 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA DP4JU UT WOS:000378463000025 ER EF