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Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8]

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Journal of pediatric urology 2021年第4期17卷 e1页

作者： Katherine L Ludorf Renata H Benjamin Maria Luisa Navarro Sanchez Scott D McLean Hope Northrup Laura E Mitchell Peter H Langlois Mark A Canfield Angela E Scheuerle Daryl A Scott Christian P Schaaf Joseph W Ray Omobola Oluwafemi Han Chen Michael D Swartz Philip J Lupo A J Agopian Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA. Clinical Genetics Section The Children's Hospital of San Antonio San Antonio TX USA. Department of Pediatrics Division of Medical Genetics McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA. Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin TX USA. Department of Pediatrics Division of Genetics and Metabolism University of Texas Southwestern Medical Center Dallas TX USA. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston TX USA. Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX USA Heidelberg University Institute of Human Genetics Heidelberg Germany. Department of Pediatrics Division of Medical Genetics and Metabolism University of Texas Medical Branch Galveston TX USA. Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA Center for Precision Health UTHealth School of Public Health and UTHealth School of Biomedical Informatics Houston TX USA. Department of Biostatistics and Data Science UTHealth School of Public Health Houston TX USA. Department of Pediatrics Section of Hematology-Oncology Baylor College of Medicine Houston TX USA. Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA. Electronic address: a.j.agopian@uth.tmc.edu.

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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Nature Communications 2025年第1期16卷 1-18页

作者： Maria Zanti Denise G. O’Mahony Kristia Yiangou Kyriaki Michailidou Michael T. Parsons Amanda B. Spurdle Leila Dorling Joe Dennis Marc Naven Antonis C. Antoniou Manjeet K. Bolla Qin Wang Douglas F. Easton Nicholas J. Boddicker Wenan Chen Chunling Hu Steven N. Hart Fergus J. Couch Thomas U. Ahearn Jonine D. Figueroa Montserrat García-Closas Christine B. Ambrosone Song Yao Irene L. Andrulis Gord Glendon Paul L. Auer Caroline Baynes Don M. Conroy Alison M. Dunning Craig Luccarini Clara Bodelon James M. Hodge Alpa V. Patel Lauren R. Teras Natalia V. Bogdanova Stig E. Bojesen Kristen D. Brantley Nicola J. Camp Archie Campbell Jose E. Castelao Melissa H. Cessna Jenny Chang-Claude Fei Chen Christopher A. Haiman Georgia Chenevix-Trench Kamila Czene Arcangela De Nicolo Susan M. Domchek Katherine L. Nathanson Thilo Dörk A. Heather Eliassen D. Gareth Evans Peter A. Fasching Henrik Flyger Manuela Gago-Dominguez Anna González-Neira Rocio Nuñez-Torres Felix Grassmann Andreas Hadjisavvas Mihalis I. Panayiotidis Ute Hamann Muhammad U. Rashid Diana Torres Mikael B. A. Hartman Weang-Kee Ho Reiner Hoppe Sacha J. Howell Anna Jakubowska Elza K. Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N. Kristensen James V. Lacey Jingmei Li Geok Hoon Lim Veronique Kiak-Mien Tan Sara Lindström Artitaya Lophatananon Kenneth Muir Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L. Milne Melissa C. Southey Nadia Obi Janet E. Olson Celine M. Vachon Julie R. Palmer Gary R. Zirpoli Paul D. P. Pharoah Eric C. Polley Kathryn J. Ruddy Siddhartha Yadav Emmanouil Saloustros Elinor J. Sawyer Marjanka K. Schmidt Soo Hwang Teo Amy Trentham-Dietz Thérèse Truong Jeffrey N. Weitzel Melissa S. Cline Peter Devilee Sean V. Tavtigian David E. Goldgar Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus Department of Medical Genetics Oslo University Hospital Oslo Norway Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA Usher Institute of Population Health Sciences and Informatics The University of Edinburgh Edinburgh UK Cancer Research UK Edinburgh Centre The University of Edinburgh Edinburgh UK Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA Department of Population Science American Cancer Society Atlanta GA USA Radiation Oncology Research Unit Hannover Medical School Hannover Germany Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Internal Medicine and Hu

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data ofBRCA1andBRCA2from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207BRCA1andBRCA2variants, with 6909 being coding, covering 23.4% ofBRCA1andBRCA2VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity forBRCA1and 93.3% sensitivity and 86.6% specificity forBRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease (Sep, 10.1038/s41588-021-00921-z, 2021)

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NATURE GENETICS 2022年第7期54卷 1062-1062页

作者： Wightman, Douglas P. Jansen, Iris E. Savage, Jeanne E. Shadrin, Alexey A. Bahrami, Shahram Holland, Dominic Rongve, Arvid Borte, Sigrid Winsvold, Bendik S. Drange, Ole Kristian Martinsen, Amy E. Skogholt, Anne Heidi Willer, Cristen Brathen, Geir Bosnes, Ingunn Nielsen, Jonas Bille Fritsche, Lars G. Thomas, Laurent F. Pedersen, Linda M. Gabrielsen, Maiken E. Johnsen, Marianne Bakke Meisingset, Tore Wergeland Zhou, Wei Proitsi, Petroula Hodges, Angela Dobson, Richard Velayudhan, Latha Heilbron, Karl Auton, Adam Sealock, Julia M. Davis, Lea K. Pedersen, Nancy L. Reynolds, Chandra A. Karlsson, Ida K. Magnusson, Sigurdur Stefansson, Hreinn Thordardottir, Steinunn Jonsson, Palmi V. Snaedal, Jon Zettergren, Anna Skoog, Ingmar Kern, Silke Waern, Margda Zetterberg, Henrik Blennow, Kaj Stordal, Eystein Hveem, Kristian Zwart, John-Anker Athanasiu, Lavinia Selnes, Per Saltvedt, Ingvild Sando, Sigrid B. Ulstein, Ingun Djurovic, Srdjan Fladby, Tormod Aarsland, Dag Selbaek, Geir Ripke, Stephan Stefansson, Kari Andreassen, Ole A. Posthuma, Danielle Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU Amsterdam Amsterdam the Netherlands Department of Child and Adolescent Psychiatry and Pediatric Psychology Section Complex Trait Genetics Amsterdam Neuroscience Vrije Universiteit Medical Center Amsterdam University Medical Center Amsterdam the Netherlands NORMENT Centre University of Oslo Oslo Norway Institute of Clinical Medicine University of Oslo Oslo Norway Division of Mental Health and Addiction Oslo University Hospital Oslo Norway Research and Communication Unit for Musculoskeletal Health (FORMI) Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway K. G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway Department of Neurology Akershus University Hospital Lørenskog Norway Department of Geriatric Medicine Oslo University Hospital Oslo Norway Norwegian National Advisory Unit on Ageing and Health Vestfold Hospital Trust Tønsberg Norway Department of Neurosciences University of California San Diego La Jolla CA USA Department of Research and Innovation Helse Fonna Haugesund Hospital Haugesund Norway The University of Bergen Institute of Clinical Medicine (K1) Bergen Norway Department of Neurology Oslo University Hospital Oslo Norway Department of Clinical and Molecular Medicine Norwegian University of Science and Technology Trondheim Norway Department of Internal Medicine Division of Cardiovascular Medicine University of Michigan Ann Arbor MI USA Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark HUNT Research Center Department of Public Health and Nursing Faculty of Medicine and Health Scien

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Host galaxy magnitude of OJ 287 from its colours at minimum light

arXiv

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arXiv 2022年

作者： Valtonen, Mauri J. Dey, Lankeswar Zola, S. Ciprini, S. Kidger, M. Pursimo, T. Gopakumar, A. Matsumoto, K. Sadakane, K. Caton, D.B. Nilsson, K. Komossa, S. Bagaglia, M. Baransky, A. Boumis, P. Boyd, D. Castro-Tirado, A.J. Debski, B. Drozdz, M. Escartin Pérez, A. Fiorucci, M. Garcia, F. Gazeas, K. Ghosh, S. Godunova, V. Gomez, J.L. Gredel, R. Grupe, D. Haislip, J.B. Henning, T. Hurst, G. Janík, J. Kouprianov, V.V. Lehto, H. Liakos, A. Mathur, S. Mugrauer, M. Naves Nogues, R. Nucciarelli, G. Ogloza, W. Ojha, D.K. Pajdosz-Śmierciak, U. Pascolini, S. Poyner, G. Reichart, D.E. Rizzi, N. Roncella, F. Sahu, D.K. Sillanpää, A. Simon, A. Siwak, M. Soldán Alfaro, F.C. Sonbas, E. Tosti, G. Vasylenko, V. Webb, J.R. Zielinski, P. Finnish Centre for Astronomy with ESO University of Turku Finland Tuorla Observatory Department of Physics and Astronomy University of Turku Finland Department of Astronomy and Astrophysics Tata Institute of Fundamental Research Mumbai400005 India Astronomical Observatory Jagiellonian University ul. Orla 171 KrakowPL-30-244 Poland Mt Suhora Observatory Pedagogical University ul. Podchorazych 2 KrakowPL-30-084 Poland Space Science Data Center - Agenzia Spaziale Italiana via del Politecnico snc RomaI-00133 Italy Instituto Nazionale di Fisica Nucleare Sezione di Perugia PerugiaI-06123 Italy European Space Agency European Space Astronomy Centre Villanueva de la Cañada Madrid28691 Spain Nordic Optical Telescope Apartado 474 Santa Cruz de La PalmaE-38700 Spain Astronomical Institute Osaka Kyoiku University 4-698 Asahigaoka Kashiwara Osaka582-8582 Japan Dark Sky Observatory Department of Physics and Astronomy Appalachian State University BooneNC28608 United States Max-Planck-Institut für Radioastronomie Auf dem Hügel 69 BonnD-53121 Germany Physics Department University of Perugia via A. Pascoli Perugia06123 Italy Astronomical Observatory of Taras Shevshenko National University of Kyiv Observatorna str. 3 Kyiv04053 Ukraine Institute for Astronomy Astrophysics Space Applications and Remote Sensing National Observatory of Athens Metaxa & Vas. Pavlou St. Penteli AthensGR-15236 Greece BAA Variable Star Section West Challow Observatory OX12 9TX United Kingdom P.O. Box 03004 GranadaE-18080 Spain Aritz Bidea No 8 4B Mungia Bizkaia 48100 Spain Asturias Valdés 33780 Spain Section of Astrophysics Astronomy and Mechanics Department of Physics National and Kapodistrian University of Athens Zografos AthensGR-15784 Greece ICAMER Observatory of NASU 27 Acad. Zabolotnoho str. Kyiv03143 Ukraine Max Planck Institute for Astronomy Koenigstuhl 17 Heidelberg D-69117 Germany Dept. of Physics Earth Science and Space System Engineering Morehe

OJ 287 is a BL Lacertae type quasar in which the active galactic nucleus (AGN) outshines the host galaxy by an order of magnitude. The only exception to this may be at minimum light when the AGN activity is so low that the host galaxy may make quite a considerable contribution to the photometric intensity of the source. Such a dip or a fade in the intensity of OJ 287 occurred in November 2017, when its brightness was about 1.75 magnitudes lower than the recent mean level. We compare the observations of this fade with similar fades in OJ 287 observed earlier in 1989, 1999, and 2010. It appears that there is a relatively strong reddening of the B−V colours of OJ 287 when its V-band brightness drops below magnitude 17. Similar changes are also seen V−R, V−I, and R−I colours during these deep fades. These data support the conclusion that the total magnitude of the host galaxy is V = 18.0 ± 0.3, corresponding to MK = −26.5 ± 0.3 in the K-band. This is in agreement with the results, obtained using the integrated surface brightness method, from recent surface photometry of the host. These results should encourage us to use the colour separation method also in other host galaxies with strongly variable AGN nuclei. In the case of OJ 287, both the host galaxy and its central black hole are among the biggest known, and its position in the black hole mass-galaxy mass diagram lies close to the mean correlation. © 2022, CC BY.

关键词： Color

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Author Correction: A multi-ancestry genetic study of pain intensity in 598,339 veterans

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Nature medicine 2024年第7期30卷 2088页

作者： Sylvanus Toikumo Rachel Vickers-Smith Zeal Jinwala Heng Xu Divya Saini Emily E Hartwell Mirko Pavicic Kyle A Sullivan Ke Xu Daniel A Jacobson Joel Gelernter Christopher T Rentsch Eli Stahl Martin Cheatle Hang Zhou Stephen G Waxman Amy C Justice Rachel L Kember Henry R Kranzler Mental Illness Research Education and Clinical Center Crescenz VAMC Philadelphia PA USA. Department of Psychiatry University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Epidemiology and Environmental Health University of Kentucky College of Public Health Lexington KY USA. Biosciences Division Oak Ridge National Laboratory Oak Ridge TN USA. Veterans Affairs Connecticut Healthcare System West Haven CT USA. Department of Psychiatry Yale University School of Medicine New Haven CT USA. Department of Medicine Yale University School of Medicine New Haven CT USA. London School of Hygiene & Tropical Medicine London UK. Regeneron Genetics Center Tarrytown NY USA. Section of Biomedical Informatics and Data Science Yale University School of Medicine New Haven CT USA. Department of Neurology Yale University School of Medicine New Haven CT USA. Yale University School of Public Health New Haven CT USA. Mental Illness Research Education and Clinical Center Crescenz VAMC Philadelphia PA USA. kranzler@pennmedicine.upenn.edu. Department of Psychiatry University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. kranzler@pennmedicine.upenn.edu.

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159 Dermoscopy versus videocapillaroscopy in the assessment of nailfold capillaroscopy images in patients with systemic sclerosis and healthy controls

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Rheumatology 2018年第SUPPL_3期57卷

作者： Dinsdale, Graham Peytrignet, Sebastien Moore, Tonia Berks, Michael Roberts, Christopher Manning, Joanne Allen, John Anderson, Marina Cutolo, Maurizio Hesselstrand, Roger Howell, Kevin Pizzorni, Carmen Smith, Vanessa Sulli, Alberto Wildt, Marie Taylor, Christopher Murray, Andrea Herrick, Ariane Centre for Musculoskeletal Research University of Manchester Salford Royal Hospital NHS Foundation Trust MAHSC Manchester UNITED KINGDOM Centre for Imaging Sciences Division of Informatics Imaging & Data Sciences University of Manchester Manchester UNITED KINGDOM Centre for Biostatistics Division of Population Health Health Services Research & Primary Care University of Manchester Manchester UNITED KINGDOM Microvascular Diagnostics Northern Medical Physics and Clinical Engineering Freeman Hospital Newcastle-upon-Tyne UNITED KINGDOM Institute of Ageing and Chronic Disease University of Liverpool Liverpool UNITED KINGDOM Research Laboratory and Academic Division of Clinical Rheumatology Department of Internal Medicine University of Genova Genova ITALY Department of Clinical Sciences Section of Rheumatology Lund University Lund SWEDEN Institute of Immunity and Transplantation University College London Royal Free Campus London UNITED KINGDOM Research Laboratory and Academic Division of Clinical Rheumatology Dept. Internal Medicine University of Genova Genova ITALY Department of Rheumatology Ghent University Hospital Faculty of Internal Medicine Ghent University Ghent BELGIUM Research Laboratory and Academic Division of Clinical Rheumatology Dept. Internal Medicine University of Genova Manchester ITALY NIHR Manchester Musculoskeletal Biomedical Research Centre Central Manchester NHS Foundation Trust Manchester Academic Health Science Centre Manchester UNITED KINGDOM

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Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

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Nature Genetics 2025年 1-13页

作者： Strom, Nora I. Gerring, Zachary F. Galimberti, Marco Yu, Dongmei Halvorsen, Matthew W. Abdellaoui, Abdel Rodriguez-Fontenla, Cristina Sealock, Julia M. Bigdeli, Tim Coleman, Jonathan R. Mahjani, Behrang Thorp, Jackson G. Bey, Katharina Burton, Christie L. Luykx, Jurjen J. Zai, Gwyneth Alemany, Silvia Andre, Christine Askland, Kathleen D. Bäckman, Julia Banaj, Nerisa Barlassina, Cristina Nissen, Judith Becker Bienvenu, O. Joseph Black, Donald Bloch, Michael H. Børte, Sigrid Bosch, Rosa Breen, Michael Brennan, Brian P. Brentani, Helena Buxbaum, Joseph D. Bybjerg-Grauholm, Jonas Byrne, Enda M. Cabana-Dominguez, Judit Camarena, Beatriz Camarena, Adrian Cappi, Carolina Carracedo, Angel Casas, Miguel Cavallini, Maria Cristina Ciullo, Valentina Cook, Edwin H. Crosby, Jesse Cullen, Bernadette A. De Schipper, Elles J. Delorme, Richard Djurovic, Srdjan Elias, Jason A. Estivill, Xavier Falkenstein, Martha J. Fundin, Bengt T. Garner, Lauryn Gironda, Christina Goes, Fernando S. Grados, Marco A. Grove, Jakob Guo, Wei Haavik, Jan Hagen, Kristen Harrington, Kelly Havdahl, Alexandra Höffler, Kira D. Hounie, Ana G. Hucks, Donald Hultman, Christina Janecka, Magdalena Jenike, Eric Karlsson, Elinor K. Kelley, Kara Klawohn, Julia Krasnow, Janice E. Krebs, Kristi Lange, Christoph Lanzagorta, Nuria Levey, Daniel Lindblad-Toh, Kerstin Macciardi, Fabio Maher, Brion Mathes, Brittany McArthur, Evonne McGregor, Nathaniel McLaughlin, Nicole C. Meier, Sandra Miguel, Euripedes C. Mulhern, Maureen Nestadt, Paul S. Nurmi, Erika L. O’Connell, Kevin S. Osiecki, Lisa Ousdal, Olga Therese Palviainen, Teemu Pedersen, Nancy L. Piras, Federica Potluri, Sriramya Rabionet, Raquel Ramirez, Alfredo Rauch, Scott Reichenberg, Abraham Riddle, Mark A. Ripke, Stephan Rosário, Maria C. Sampaio, Aline S. Schiele, Miriam A. Skogholt, Anne Heidi Sloofman, Laura G. Smit, Jan Artigas, María Soler Thomas, Laurent F. Tifft, Eric Vallada, Homero van Kirk, Nathanial Veenstra-VanderWeele, Jeremy Vulink, Nienke N. Walker, Christopher P. Wang, Ying Wendland, Jens R. Winsvold Department of Psychology Humboldt-Universität zu Berlin Berlin Germany Department of Psychiatric Phenomics and Genomics (IPPG) Ludwig-Maximilians University Munich Munich Germany Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet and Stockholm Health Services Region Stockholm Stockholm Sweden Department of Biomedicine Aarhus University Aarhus Denmark University Hospital of Psychiatry and Psychotherapy University of Bern Bern Switzerland Department of Mental Health and Neuroscience Translational Neurogenomics QIMR Berghofer Medical Research Institute Brisbane QLD Australia Department of Population Health and Immunity Healthy Development and Ageing Walter and Eliza Hall Institute of Medical Research Melbourne VIC Australia Department of Psychiatry Human Genetics Yale University New Haven CT United States VA Connecticut Healthcare System West Haven CT United States Department of Center for Genomic Medicine Psychiatric and Neurodevelopmental Genetics Unit Massachusetts General Hospital Boston MA United States Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA United States Department of Genetics University of North Carolina at Chapel Hill Chapel Hill NC United States Department of Psychiatry Amsterdam University Medical Centers University of Amsterdam Amsterdam Netherlands Center for Research in Molecular Medicine and Chronic Diseases (CiMUS) Genomics and Bioinformatics University of Santiago de Compostela Santiago de Compostela Spain Grupo de Medicina Xenómica Genetics Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS) Santiago de Compostela Spain Vanderbilt Genetics Institute Vanderbilt University Nashville TN United States Department of Psychiatry and Behavioral Sciences SUNY Downstate Health Sciences University Brooklyn NY United States VA NY Harbor Healthcare System Brooklyn NY United States Social Genetic and Developmental Psychiatry Centre Insti

Obsessive–compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along with D₁ and D₂ type dopamine receptor-containing medium spiny neurons. OCD genetic risk was shared with 65 of 112 additional phenotypes, including all the psychiatric disorders we examined. In particular, OCD shared genetic risk with anxiety, depression, anorexia nervosa and Tourette syndrome and was negatively associated with inflammatory bowel diseases, educational attainment and body mass index. © The Author(s) 2025.

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Diabetic foot ulcers segmentation challenge report: Benchmark and analysis

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Medical image analysis 2024年 94卷 103153页

作者： Moi Hoon Yap Bill Cassidy Michal Byra Ting-Yu Liao Huahui Yi Adrian Galdran Yung-Han Chen Raphael Brüngel Sven Koitka Christoph M Friedrich Yu-Wen Lo Ching-Hui Yang Kang Li Qicheng Lao Miguel A González Ballester Gustavo Carneiro Yi-Jen Ju Juinn-Dar Huang Joseph M Pappachan Neil D Reeves Vishnu Chandrabalan Darren Dancey Connah Kendrick Department of Computing and Mathematics Manchester Metropolitan University John Dalton Building Chester Street Manchester M1 5GD United Kingdom Lancashire Teaching Hospitals NHS Trust Preston PR2 9HT United Kingdom. Electronic address: m.yap@mmu.ac.uk. Department of Computing and Mathematics Manchester Metropolitan University John Dalton Building Chester Street Manchester M1 5GD United Kingdom. Institute of Fundamental Technological Research Polish Academy of Sciences Warsaw Poland RIKEN Center for Brain Science Wako Japan. Department of Computer Science National Tsing Hua University No. 101 Section 2 Kuang-Fu Road Hsinchu Taiwan. West China Biomedical Big Data Center West China Hospital Sichuan University Chengdu China. BCN Medtech Universitat Pompeu Fabra Barcelona Spain AIML University of Adelaide Australia. Institute of Electronics National Yang Ming Chiao Tung University No. 1001 University Road Hsinchu 300 Taiwan. Department of Computer Science University of Applied Sciences and Arts Dortmund (FH Dortmund) Emil-Figge-Str. 42 44227 Dortmund Germany Institute for Medical Informatics Biometry and Epidemiology (IMIBE) University Hospital Essen Zweigertstr. 37 45130 Essen Germany Institute for Artificial Intelligence in Medicine (IKIM) University Hospital Essen Girardetstr. 2 45131 Essen Germany. Institute for Artificial Intelligence in Medicine (IKIM) University Hospital Essen Girardetstr. 2 45131 Essen Germany Institute of Diagnostic and Interventional Radiology and Neuroradiology University Hospital Essen Hufelandstr. 55 45147 Essen Germany. Institute for Medical Informatics Biometry and Epidemiology (IMIBE) University Hospital Essen Zweigertstr. 37 45130 Essen Germany. West China Biomedical Big Data Center West China Hospital Sichuan University Chengdu China Shanghai Artificial Intelligence Laboratory Shanghai China. School of Artificial Intelligence Beijing University of Posts and Telecommunications Beijing China BCN Medtech Universit

Monitoring the healing progress of diabetic foot ulcers is a challenging process. Accurate segmentation of foot ulcers can help podiatrists to quantitatively measure the size of wound regions to assist prediction of healing status. The main challenge in this field is the lack of publicly available manual delineation, which can be time consuming and laborious. Recently, methods based on deep learning have shown excellent results in automatic segmentation of medical images, however, they require large-scale datasets for training, and there is limited consensus on which methods perform the best. The 2022 Diabetic Foot Ulcers segmentation challenge was held in conjunction with the 2022 International Conference on Medical Image Computing and Computer Assisted Intervention, which sought to address these issues and stimulate progress in this research domain. A training set of 2000 images exhibiting diabetic foot ulcers was released with corresponding segmentation ground truth masks. Of the 72 (approved) requests from 47 countries, 26 teams used this data to develop fully automated systems to predict the true segmentation masks on a test set of 2000 images, with the corresponding ground truth segmentation masks kept private. Predictions from participating teams were scored and ranked according to their average Dice similarity coefficient of the ground truth masks and prediction masks. The winning team achieved a Dice of 0.7287 for diabetic foot ulcer segmentation. This challenge has now entered a live leaderboard stage where it serves as a challenging benchmark for diabetic foot ulcer segmentation.

关键词： Convolutional neural networks Deep learning Diabetic foot ulcers Metrics Segmentation

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THE ARCTIC

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Bulletin of the American Meteorological Society 2024年第8期105卷 S277-S330页

作者： Druckenmiller, M.L. Thoman, R.L. Moon, T.A. National Snow and Ice Data Center Cooperative Institute for Research in Environmental Sciences University of Colorado Boulder Boulder Colorado International Arctic Research Center University of Alaska Fairbanks Fairbanks Alaska National Snow and Ice Data Center Cooperative Institute for Research in Environmental Sciences University of Colorado Boulder Colorado Section for Glaciers Ice and Snow Norwegian Water Resources and Energy Directorate Oslo Norway School of Informatics Computing and Cyber Systems Northern Arizona University Flagstaff Arizona Biospherical Instruments Inc. San Diego California Geophysical Institute University of Alaska Fairbanks Fairbanks Alaska Plant Soils and Climate Department Utah State University Logan Utah Norwegian Institute for Nature Research Trondheim Norway FRAM – High North Research Centre for Climate and the Environment Tromsø Norway Geological Survey of Denmark and Greenland (GEUS) Copenhagen Denmark NOAA/NWS Alaska Region Anchorage Alaska Alaska Native Tribal Health Consortium Anchorage Alaska Geological Survey of Canada Natural Resources Canada Ottawa Canada NOAA Chemical Sciences Laboratory Boulder Colorado Arctic Geophysics Department University Centre in Svalbard Longyearbyen Norway Geology Department University Centre in Svalbard Longyearben Norway Centre National de Recherches Météorologiques Météo-France/CNRS Toulouse France Climate Research Division Environment and Climate Change Canada Toronto Canada Norwegian Polar Institute Fram Centre Tromsø Norway Danish Meteorological Institute Copenhagen Denmark Department of Physics University of Toronto Toronto Canada Department of Environmental Sciences University of Virginia Charlottesville Virginia Department of Geographical Sciences University of Maryland College Park Maryland University of Liège Liège Belgium Environment and Climate Change Canada Toronto Canada Northern Rocky Mountain Science Center U.S. Geological Survey Bozeman Montana Arctic C

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The eleven-item Alcohol, Smoking and Substance Involvement Screening Test (ASSIST-11): Cross-cultural psychometric evaluation across 42 countries

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Journal of Psychiatric Research 2023年第1期165卷 16-27页

作者： Lee, Chih-Ting Lin, Chung-Ying Koós, Mónika Nagy, Léna Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Burkauskas, Julius Cárdenas-López, Georgina Carvalho, Joana Castro-Calvo, Jesús Chen, Lijun Ciocca, Giacomo Corazza, Ornella Csako, Rita I. Fernandez, David P. Fernandez, Elaine F. Fujiwara, Hironobu Fuss, Johannes Gabrhelík, Roman Gewirtz-Meydan, Ateret Gjoneska, Biljana Gola, Mateusz Grubbs, Joshua B. Hashim, Hashim T. Islam, Md. Saiful Ismail, Mustafa Jiménez-Martínez, Martha Jurin, Tanja Kalina, Ondrej Klein, Verena Költő, András Lee, Sang-Kyu Lewczuk, Karol Lochner, Christine López-Alvarado, Silvia Lukavská, Kateřina Mayta-Tristán, Percy Milea, Ionut Miller, Dan J. Orosová, Oľga Orosz, Gábor Ponce, Fernando P. Quintana, Gonzalo R. Garzola, Gabriel C.Quintero Ramos-Diaz, Jano Rigaud, Kévin Rousseau, Ann Scanavino, Marco De Tubino Schulmeyer, Marion K. Sharan, Pratap Shibata, Mami Shoib, Sheikh Sigre-Leirós, Vera Sniewski, Luke Spasovski, Ognen Steibliene, Vesta Stein, Dan J. Strizek, Julian Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta Department of Family Medicine National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Institute of Allied Health Sciences College of Medicine National Cheng Kung University Tainan Taiwan Biostatistics Consulting Center National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas Las Vegas NV United States Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de Psychologie Université de Montréal Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Lithuania Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro CPUP: Center for Psychology at Porto University Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University China Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome Rome Italy Department of Clinical Pharmaceuti

The Alcohol, Smoking and Substance Involvement Screening Test (ASSIST) is an instrument to screen substance-use-related health risks. However, little is known whether the ASSIST could be further shortened while remaining psychometrically sound across different countries, languages, gender identities, and sexual-orientation-based groups. The study aimed to validate a shortened 11-item ASSIST (ASSIST-11). Using the International Sex Survey data, 82,243 participants (M _age = 32.39 years) across 42 countries and 26 languages completed questions from the ASSIST-11 regarding gender identity, sexual orientation, and other information. Confirmatory factor analysis (CFA) and multigroup CFA (MGCFA) evaluated the ASSIST-11's structure and tested measurement invariance across groups. Cronbach's α and McDonald's ω were used to examine the internal consistency. Cohen's d and independent t-tests were used to examine known-group validity. The ASSIST-11 was unidimensional across countries, languages, age groups, gender identities (i.e., men, women, and gender-diverse individuals), and sexual orientations (i.e., heterosexual and sexual minority individuals). Cronbach's α was 0.63 and McDonald's ω was 0.68 for the ASSIST-11. Known-group validity was supported by Cohen's d (range between 0.23 and 0.40) with significant differences (p-values<0.001). The ASSIST-11 is a modified instrument with a unidimensional factor structure across different languages, age groups, countries, gender identities, and sexual orientations. The low internal consistency of the ASSIST-11 might be acceptable as it assesses a broad concept (i.e., use of several different substances). Healthcare providers and researchers may use the ASSIST-11 to quickly assess substance-use information from general populations and evaluate the need to follow up with more detailed questions about substance use. © 2023 Elsevier Ltd

关键词： Addictive behaviors Cross-cultural study Factor structure Measurement invariance Psychometrics

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