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54712 Bipolar disorder among patients with atopic dermatitis: A case-control study in the All of Us research program

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Journal of the American Academy of Dermatology 2024年第3期91卷 AB147-AB147页

作者： Wride, Mitchel, BA Chen, Gloria, BA Fan, Ryan, MD Leasure, Audrey, MD, MHS Levey, Daniel, PhD Damsky, William, MD, PhD Cohen, Jeffrey, MD Yale School of Medicine New Haven CT Department of Dermatology Yale School of Medicine New Haven CT Department of Psychiatry Yale School of Medicine West Haven CT Veterans Affairs Connecticut Healthcare Center West Haven CT Department of Pathology Yale School of Medicine New Haven CT Section of Biomedical Informatics and Data Science Yale School of Medicine New Haven CT

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Thalamo-cortical structural co-variation networks are related to familial risk for schizophrenia in the context of lower nuclei volume estimates in patients: an ENIGMA study

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Biological psychiatry 2025年

作者： Annalisa Lella Linda A Antonucci Roberta Passiatore Loredana Bellantuono Pierluigi Selvaggi Teresa Popolizio Guido Di Sciascio Alessandro Saponaro Patrizia Ricci Mario Altamura Giuseppe Blasi Antonio Rampino Chris Vriend Vince D Calhoun Kelly Rootes-Murdy Aaron L Goldman Inmaculada Baeza Josefina Castro-Fornieles Gisela Sugranyes Elena De la Serna Edith Pomarol-Clotet Mar Fatjó-Vilas Raymond Salvador Andriana Karuk Paola Fuentes-Claramonte David C Glahn Amanda L Rodrigue John Blangero Lei Wang Taeyoung Lee Karolin E Einenkel Saskia Hamers Oliver Gruber Adrian Preda Young-Chul Chung Soyolsaikhan Odkhuu Corentin Vallée Paola Dazzan Machteld Marcelis Stijn Michielse Katharina Brosch Frederike Stein Igor Nenadić Benjamin Straube Florian Thomas-Odenthal Tilo Kircher Sean Carruthers Susan L Rossell Phillip J Sumner Tamsyn E Van Rheenen Caroline Demro Ian S Ramsay Scott R Sponheim Rebekka Lencer Susanne Meinert Tim Hahn Udo Dannlowski Dominik Grotegerd Mariateresa Ciccarelli Felice Iasevoli Giuseppe Pontillo Godfrey D Pearlson Derin Cobia Fabrizio Piras Nerisa Banaj Daniela Vecchio Marjolein E A Barendse Neeltje E M van Haren Hang Joon Jo Kang Sim Yann Quidé Melissa J Green Rachael Slate Giacomo Cecere Wolfgang Omlor Stephanie Homan Philipp Homan Sophia I Thomopoulos Jessica A Turner Theo G M van Erp Paul M Thompson Alessandro Bertolino Giulio Pergola Department of Translational Biomedicine and Neuroscience (DiBraiN)-University of Bari Aldo Moro Bari Italy. Department of Translational Biomedicine and Neuroscience (DiBraiN)-University of Bari Aldo Moro Bari Italy Lieber Institute for Brain Development Johns Hopkins Medical Campus Baltimore MD USA. Istituto Nazionale di Fisica Nucleare Bari Italy. Azienda Ospedaliero-Universitaria Consorziale Policlinico Bari Italy. Neuroradiology Unit Scientific Institute for Research Hospitalization and Health Care Casa Sollievo della Sofferenza 71013 San Giovanni Rotondo Foggia Italy. Department of Mental Health ASL Bari Bari Italy. Department of Mental Health ASL Brindisi Brindisi Italy. Department of Mental Health ASL Barletta Andria Trani BAT Italy. Department of Clinical and Experimental Medicine University of Foggia Italy. Amsterdam UMC Vrije Universiteit Amsterdam Department of Psychiatry and Department of Anatomy and Neuroscience de Boelelaan 1117 Amsterdam the Netherlands Compulsivity Impulsivity and Attention Amsterdam Neuroscience de Boelelaan 1117 Amsterdam the Netherlands. Tri-Institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS) Georgia Institute of Technology Georgia State University Emory University Atlanta GA USA. Department of Child and Adolescent Psychiatry and Psychology 2021 SGR 01319 Institute of Neuroscience Hospital Clínic Barcelona Barcelona University of Barcelona Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) CIBERSAM Spain. FIDMAG Germanes Hospitalàries Research Foundation CIBERSAM ISCIII Barcelona Spain. Department of Psychiatry and Behavioral Sciences Boston Children's Hospital Boston MA USA Department of Psychiatry Harvard Medical School Boston MA USA Olin Neuropsychiatry Research Center Institute of Living Hartford CT USA. Department of Psychiatry Harvard Medical School Boston MA USA. Department of Human Genetics and South Texas Diabetes and Obesity Institute School of

BACKGROUND:Structural brain differences in the thalamus and the cortex have been widely reported in schizophrenia (SCZ) relative to neurotypical controls (NC). Most prior studies examined the thalamus as a whole, single region-of-interest. Additionally, findings in individuals at familial high-risk for schizophrenia (FHR) remain inconclusive. Here, we investigated whether local and network-wide thalamic-related structural alterations vary as a function of familial risk for schizophrenia. METHODS:Structural MRI scans were obtained from 5,197 participants (3,409 NC, 257 FHR, 1,531 SCZ) across 32 cross-sectional samples within the ENIGMA Consortium. Random-effects meta-analyses, and network analyses were conducted on (i) local thalamic alterations (volume estimates of seven thalamic subdivisions), and (ii) network-wide thalamic alterations (thickness and surface-related thalamo-cortical/cortico-cortical co-variation patterns) across groups (NC, FHR, SCZ). RESULTS:Individuals with SCZ showed significantly lower gray matter volume estimates in the anterior, pulvinar, medial, posterior, and ventral thalamic subdivisions compared to NC (q<0.05). FHR did not differ from NC. At the network-wide level, thalamo-cortical co-variations discriminated FHR from NC (q<0.05), with FHR showing intermediate co-variation between SCZ and NC. Cortico-cortical co-variation patterns revealed that SCZ and FHR shared similarly disconnected clustering configurations, distinct from NC (q<0.05). CONCLUSIONS:Results revealed lower thalamic volume estimates in SCZ but not in FHR, hence yielding no evidence of a familial risk trait, whereas thalamo-cortical and cortico-cortical co-variation estimates were associated with familial risk for SCZ These findings suggest that, once the thalamus is parsed into subdivisions, network-wide thalamo-cortical features may identify trait-dependent, neurobiological correlates of genetic risk for SCZ.

关键词： Familial high risk for schizophrenia meta-analyses morphometric measures structural neuroimaging thalamic subdivisions thalamo-cortical networks

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Ten quick tips for deep learning in biology

arXiv

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arXiv 2021年

作者： Lee, Benjamin D. Gitter, Anthony Greene, Casey S. Raschka, Sebastian Maguire, Finlay Titus, Alexander J. Kessler, Michael D. Lee, Alexandra J. Chevrette, Marc G. Stewart, Paul Allen Britto-Borges, Thiago Cofer, Evan M. Yu, Kun-Hsing Carmona, Juan Jose Fertig, Elana J. Kalinin, Alexandr A. Signal, Beth Lengerich, Benjamin J. Triche, Timothy J. Boca, Simina M. In-Q-Tel Labs School of Engineering and Applied Sciences Harvard University Department of Genetics Harvard Medical School United States Department of Biostatistics and Medical Informatics University of Wisconsin-Madison MadisonWI United States Morgridge Institute for Research MadisonWI United States Department of Systems Pharmacology and Translational Therapeutics Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Biochemistry and Molecular Genetics University of Colorado School of Medicine AuroraCO United States Center for Health AI University of Colorado School of Medicine AuroraCO United States Department of Statistics University of Wisconsin Madison United States Faculty of Computer Science Dalhousie University Canada University of New Hampshire Bioeconomy.XYZ United States Department of Oncology Johns Hopkins University United States Institute for Genome Sciences University of Maryland School of Medicine United States Genomics and Computational Biology Graduate Program University of Pennsylvania United States Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania United States Wisconsin Institute for Discovery Department of Plant Pathology University of Wisconsin-Madison United States Department of Biostatistics and Bioinformatics Moffitt Cancer Center TampaFL United States Section of Bioinformatics and Systems Cardiology Klaus Tschira Institute for Integrative Computational Cardiology University Hospital Heidelberg Germany University Hospital Heidelberg Germany Lewis-Sigler Institute for Integrative Genomics Princeton University PrincetonNJ United States Graduate Program in Quantitative and Computational Biology Princeton University PrincetonNJ United States Department of Biomedical Informatics Harvard Medical School United States Department of Pathology Brigham and Women's Hospital United States Philips Healthcare CambridgeMA United States Philips Research

Machine learning is a modern approach to problem-solving and task automation. In particular, machine learning is concerned with the development and applications of algorithms that can recognize patterns in data and use them for predictive modeling. Artificial neural networks are a particular class of machine learning algorithms and models that evolved into what is now described as deep learning. Given the computational advances made in the last decade, deep learning can now be applied to massive data sets and in innumerable contexts. Therefore, deep learning has become its own subfield of machine learning. In the context of biological research, it has been increasingly used to derive novel insights from high-dimensional biological data. To make the biological applications of deep learning more accessible to scientists who have some experience with machine learning, we solicited input from a community of researchers with varied biological and deep learning interests. These individuals collaboratively contributed to this manuscript's writing using the GitHub version control platform and the Manubot manuscript generation toolset. The goal was to articulate a practical, accessible, and concise set of guidelines and suggestions to follow when using deep learning. In the course of our discussions, several themes became clear: the importance of understanding and applying machine learning fundamentals as a baseline for utilizing deep learning, the necessity for extensive model comparisons with careful evaluation, and the need for critical thought in interpreting results generated by deep learning, among others. © 2021, CC BY.

关键词： Learning algorithms

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Assessing Trustworthy AI in Times of COVID-19: Deep Learning for Predicting a Multiregional Score Conveying the Degree of Lung Compromise in COVID-19 Patients

IEEE Transactions on Technology and Society

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IEEE Transactions on Technology and Society 2022年第4期3卷 272-289页

作者： Allahabadi, Himanshi Amann, Julia Balot, Isabelle Beretta, Andrea Binkley, Charles Bozenhard, Jonas Bruneault, Frederick Brusseau, James Candemir, Sema Cappellini, Luca Alessandro Chakraborty, Subrata Cherciu, Nicoleta Cociancig, Christina Coffee, Megan Ek, Irene Espinosa-Leal, Leonardo Farina, Davide Fieux-Castagnet, Genevieve Frauenfelder, Thomas Gallucci, Alessio Giuliani, Guya Golda, Adam Van Halem, Irmhild Hildt, Elisabeth Holm, Sune Kararigas, Georgios Krier, Sebastien A. Kuhne, Ulrich Lizzi, Francesca Madai, Vince I. Markus, Aniek F. Masis, Serg Mathez, Emilie Wiinblad Mureddu, Francesco Neri, Emanuele Osika, Walter Ozols, Matiss Panigutti, Cecilia Parent, Brendan Pratesi, Francesca Moreno-Sanchez, Pedro A. Sartor, Giovanni Savardi, Mattia Signoroni, Alberto Sormunen, Hanna-Maria Spezzatti, Andy Srivastava, Adarsh Stephansen, Annette F. Theng, Lau Bee Tithi, Jesmin Jahan Tuominen, Jarno Umbrello, Steven Vaccher, Filippo Vetter, Dennis Westerlund, Magnus Wurth, Renee Zicari, Roberto V. Ey Netherlands Enterprise Intelligence Department Amsterdam1083 HP Netherlands Eth Zurich Health Ethics and Policy Lab Department of Health Sciences and Technology Zürich8092 Switzerland Center for Diplomatic and Strategic Studies Postgraduate Studies in Diplomacy and International Relations Paris75015 France Pisa56124 Italy Hackensack Meridian Health Bioethics Center EdisonNJ08820 United States University of Oxford Faculty of Philosophy OxfordOX2 6GG United Kingdom Collège André- Laurendeau Philosophie Department MontrealQCH8N 2J4 Canada Université du Québec À Montréal École des Médias MontrealQCH2L 2C4 Canada Pace University Philosophy Department New YorkNY10038 United States The Ohio State University Wexner Medical Center Department of Radiology ColumbusOH43210 United States Humanitas Research Hospital Department of Radiology Milan20089 Italy Humanitas University Department of Biomedical Sciences Milan20089 Italy University of New England Faculty of Science Agriculture Business and Law ArmidaleNSW2351 Australia University of Technology Sydney Faculty of Engineering and Information Technology SydneyNSW2007 Australia Scuola Superiore Sant'Anna European Centre of Excellence on the Regulation of Robotics and Ai Pisa56127 Italy University of Bremen Group of Computer Architecture Bremen28359 Germany New York University Grossman School of Medicine Division of Infectious Diseases and Immunology Department of Medicine New YorkNY10016 United States Digital Institute Ai Research Section Stockholm16731 Sweden Arcada University of Applied Sciences Department of Business Management and Analytics Helsinki00550 Finland University of Brescia Radiological Sciences and Public Health Department of Medical and Surgical Specialties Brescia25121 Italy Sncf Reseau Sa Ethique Groupe La Plaine93418 France Institute of Diagnostic and Interventional Radiology University Hospital Zurich Zürich8091 Switzerland Eindhoven University of Tech

This article's main contributions are twofold: 1) to demonstrate how to apply the general European Union's High-Level Expert Group's (EU HLEG) guidelines for trustworthy AI in practice for the domain of healthcare and 2) to investigate the research question of what does 'trustworthy AI' mean at the time of the COVID-19 pandemic. To this end, we present the results of a post-hoc self-assessment to evaluate the trustworthiness of an AI system for predicting a multiregional score conveying the degree of lung compromise in COVID-19 patients, developed and verified by an interdisciplinary team with members from academia, public hospitals, and industry in time of pandemic. The AI system aims to help radiologists to estimate and communicate the severity of damage in a patient's lung from Chest X-rays. It has been experimentally deployed in the radiology department of the ASST Spedali Civili clinic in Brescia, Italy, since December 2020 during pandemic time. The methodology we have applied for our post-hoc assessment, called Z-Inspection®, uses sociotechnical scenarios to identify ethical, technical, and domain-specific issues in the use of the AI system in the context of the pandemic. © 2020 IEEE.

关键词： COVID-19

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The science of Precision Prevention: Research Opportunities and Clinical Applications to Reduce Cardiovascular Health Disparities

JACC: Advances

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JACC: Advances 2024年第1期3卷 100759-100759页

作者： Pearson, Thomas A. Vitalis, Debbie Pratt, Charlotte Campo, Rebecca Armoundas, Antonis A. Au, David Beech, Bettina Brazhnik, Olga Chute, Christopher G. Davidson, Karina W. Diez-Roux, Ana V. Fine, Lawrence J. Gabriel, Davera Groenveld, Peter Hall, Jaclyn Hamilton, Alison B. Hu, Hui Ji, Heng Kind, Amy Kraus, William E. Krumholz, Harlan Mensah, George A. Merchant, Raina M. Mozaffarian, Dariush Murray, David M. Neumark-Sztainer, Dianne Petersen, Maya Goff, David College of Medicine and College of Public Health and Health Professions University of Florida Health Science Center Gainesville FL United States Division of Cardiovascular Sciences National Heart Lung and Blood Institute National Institutes of Health Bethesda MD United States Cardiovascular Research Center Massachusetts General Hospital and Broad Institute Massachusetts Institute of Technology Cambridge MA United States Center of Innovation for Veteran-Centered and Value-Driven Care University of Washington Seattle WA United States UH Population Health University of Houston Houston TX United States Johns Hopkins Medicine Institute for Clinical and Translational Research Baltimore MD United States Institute of Health System Science Feinstein Institutes for Medical Research Northwell Health New Hyde Park NY United States Feinstein Institutes for Medical Research Northwell Health Manhasset NY United States Urban Health Collaborative Drexel Dornsife School of Public Health Philadelphia PA United States Biomedical Informatics and Data Science Section Johns Hopkins University School of Medicine Baltimore MD United States Center for Health Care Transformation and Innovation University of Pennsylvania Perelman School of Medicine Philadelphia PA United States Department of Health Outcomes and Biomedical Informatics Institute for Child Health Policy College of Medicine University of Florida Gainesville FL United States Center for the Study of Healthcare Innovation Implementation & Policy VA Greater Los Angeles Healthcare System Los Angeles CA United States Channing Division of Network Medicine Department of Medicine Brigham and Women's Hospital and Harvard Medical School Boston MA United States Department of Computer Science University of Illinois Urbana-Champaign Champaign IL United States Center for Health Disparities Research (CHDR) University of Wisconsin School of Medicine and Public Health Madison WI United States Duke Molecular Physiology Insti

Precision prevention embraces personalized prevention but includes broader factors such as social determinants of health to improve cardiovascular health. The quality, quantity, precision, and diversity of data relatable to individuals and communities continue to expand. New analytical methods can be applied to these data to create tools to attribute risk, which may allow a better understanding of cardiovascular health disparities. Interventions using these analytic tools should be evaluated to establish feasibility and efficacy for addressing cardiovascular disease disparities in diverse individuals and communities. Training in these approaches is important to create the next generation of scientists and practitioners in precision prevention. This state-of-the-art review is based on a workshop convened to identify current gaps in knowledge and methods used in precision prevention intervention research, discuss opportunities to expand trials of implementation science to close the health equity gaps, and expand the education and training of a diverse precision prevention workforce. © 2023 The Authors

关键词： data science health equity health promotion implementation science personalized medicine precision analytics

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

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NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK MRC-PHE Centre for Environment and Health Imperial College London London UK Department of Mathematics Imperial College London London UK Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA Division of Aging Department of Medicine Brigham and Women’s Hospital Department of Medicine Harvard Medical School Boston MA USA Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA Estonian Genome Center University of Tartu Tartu Estonia Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Department Clinical Sciences Malmö Lund University Malmö Sweden MRC Human Genetics Un

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

关键词： Cardiovascular diseases Genome informatics Genome-wide association studies

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Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals

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NATURE MEDICINE 2023年第12期29卷 3184-3192页

作者： Zhou, Hang Kember, Rachel. L. Deak, Joseph. D. Xu, Heng Tolkumo, Sylvanus Yuan, Kai Lind, Penelope A. Farajzadeh, Lella Wang, Lu Hatoum, Alexander. S. Johnson, Jessica Lee, Hyunjoo Mallard, Travis. T. Xu, Jiayi Johnston, Keira J. A. Johnson, Emma C. Nielsen, Trine Tollerup Galimberti, Marco Dao, Cecilia Levey, Daniel F. Overstreet, Cassie Byrne, Enda. M. Gillespie, Nathan. A. Gordon, Scott Sanchez-Roige, Sandra Madden, Paamela A. F. Heath, Andrew C. Medland, Sarah E. Martin, Nicholas G. Ge, Tian Smoller, Jordan. W. Hougaard, David. M. Borglum, Anders D. Demontis, Ditte Krystal, John. H. Gaziano, J. Michael Edenberg, Howard J. Agarwal, Arpana Justice, Amy. C. Stein, Murray B. Kranzler, Henry. R. Gelernter, Joel Department of Psychiatry Yale School of Medicine New Haven CT USA Veterans Affairs Connecticut Healthcare System West Haven CT USA Section of Biomedical Informatics and Data Science Yale School of Medicine New Haven CT USA Crescenz Veterans Affairs Medical Center Philadelphia PA USA Department of Psychiatry University of Pennsylvania Perelman School of Medicine Philadelphia PA USA Stanley Center for Psychiatric Research The Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital Boston MA USA Psychiatric Genetics QIMR Berghofer Medical Research Institute Brisbane Queensland Australia School of Biomedical Sciences Queensland University of Technology Brisbane Queensland Australia Faculty of Medicine University of Queensland Brisbane Queensland Australia Department of Biomedicine – Human Genetics Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark Center for Genomics and Personalized Medicine Aarhus Denmark Department of Psychological and Brain Sciences Washington University in St. Louis Saint Louis MO USA Pamela Sklar Division of Psychiatric Genomics Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA Psychiatric and Neurodevelopmental Genetics Unit Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Department of Psychiatry Massachusetts General Hospital Harvard Medical School Boston MA USA Department of Psychiatry Washington University School of Medicine Saint Louis MO USA Child Health Research Centre The University of Queensland Brisbane Queensland Australia Institute for Psychiatric and Behavioral Genetics Department of Psychiatry Virginia Commonwealth University Richmond VA USA Genetic Epidemiology QIMR Berghofer Med

Problematic alcohol use (PAU), a trait that combines alcohol use disorder and alcohol-related problems assessed with a questionnaire, is a leading cause of death and morbidity worldwide. Here we conducted a large cross-ancestry meta-analysis of PAU in 1,079,947 individuals (European, N = 903,147;African, N = 122,571;Latin American, N = 38,962;East Asian, N = 13,551;and South Asian, N = 1,716 ancestries). We observed a high degree of cross-ancestral similarity in the genetic architecture of PAU and identified 110 independent risk variants in within- and cross-ancestry analyses. Cross-ancestry fine mapping improved the identification of likely causal variants. Prioritizing genes through gene expression and chromatin interaction in brain tissues identified multiple genes associated with PAU. We identified existing medications for potential pharmacological studies by a computational drug repurposing analysis. Cross-ancestry polygenic risk scores showed better performance of association in independent samples than single-ancestry polygenic risk scores. Genetic correlations between PAU and other traits were observed in multiple ancestries, with other substance use traits having the highest correlations. This study advances our knowledge of the genetic etiology of PAU, and these findings may bring possible clinical applicability of genetics insights-together with neuroscience, biology and data science-closer. A multi-ancestry genome-wide association study of problematic alcohol use in one million individuals identified 110 risk variants and shows that multi-ancestry polygenic scores improve risk prediction compared with single-ancestry scores

关键词： Addiction Genome-wide association studies

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Authorship Correction: International Changes in COVID-19 Clinical Trajectories Across 315 Hospitals and 6 Countries: Retrospective Cohort Study

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Journal of medical Internet research 2021年第11期23卷 e34625页

作者： Griffin M Weber Harrison G Zhang Sehi L'Yi Clara-Lea Bonzel Chuan Hong Paul Avillach Alba Gutiérrez-Sacristán Nathan P Palmer Amelia Li Min Tan Xuan Wang William Yuan Nils Gehlenborg Anna Alloni Danilo F Amendola Antonio Bellasi Riccardo Bellazzi Michele Beraghi Mauro Bucalo Luca Chiovato Kelly Cho Arianna Dagliati Hossein Estiri Robert W Follett Noelia García Barrio David A Hanauer Darren W Henderson Yuk-Lam Ho John H Holmes Meghan R Hutch Ramakanth Kavuluru Katie Kirchoff Jeffrey G Klann Ashok K Krishnamurthy Trang T Le Molei Liu Ne Hooi Will Loh Sara Lozano-Zahonero Yuan Luo Sarah Maidlow Adeline Makoudjou Alberto Malovini Marcelo Roberto Martins Bertrand Moal Michele Morris Danielle L Mowery Shawn N Murphy Antoine Neuraz Kee Yuan Ngiam Marina P Okoshi Gilbert S Omenn Lav P Patel Miguel Pedrera Jiménez Robson A Prudente Malarkodi Jebathilagam Samayamuthu Fernando J Sanz Vidorreta Emily R Schriver Petra Schubert Pablo Serrano Balazote Byorn Wl Tan Suzana E Tanni Valentina Tibollo Shyam Visweswaran Kavishwar B Wagholikar Zongqi Xia Daniela Zöller Isaac S Kohane Tianxi Cai Andrew M South Gabriel A Brat Department of Biomedical Informatics Harvard Medical School Boston MA United States. BIOMERIS (BIOMedical Research Informatics Solutions) Pavia Italy. Clinical Research Unit Botucatu Medical School São Paulo State University Botucatu Brazil. Division of Nephrology Department of Medicine Ente Ospedaliero Cantonale Lugano Switzerland. Department of Electrical Computer and Biomedical Engineering University of Pavia Pavia Italy. Information Technology Department Azienda Socio-Sanitaria Territoriale di Pavia Pavia Italy. Unit of Internal Medicine and Endocrinology Istituti Clinici Scientifici Maugeri SpA SB IRCCS Pavia Italy. Massachusetts Veterans Epidemiology Research and Information Center Veterans Affairs Boston Healthcare System Boston MA United States. Department of Electrical Computer and Biomedical Engineering University of Pavia Pavia Italy. Department of Medicine Massachusetts General Hospital Boston MA United States. Department of Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles CA United States. Health Informatics Hospital Universitario 12 de Octubre Madrid Spain. Department of Learning Health Sciences University of Michigan Medical School Ann Arbor MI United States. Department of Biomedical Informatics University of Kentucky Lexington KY United States. Department of Biostatistics Epidemiology and Informatics University of Pennsylvania Perelman School of Medicine Philadelphia PA United States. Institute for Biomedical Informatics University of Pennsylvania Perelman School of Medicine Philadelphia PA United States. Department of Preventive Medicine Northwestern University Chicago IL United States. Institute for Biomedical Informatics University of Kentucky Lexington KY United States. Medical University of South Carolina Charleston SC United States. Department of Computer Science Renaissance Computing Institute University of North Carolina at Chapel Hill Chapel Hill NC United States. Departm

[This corrects the article DOI: 10.2196/31400.].

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Racial and Ethnic Variation in ECMO Utilization and Outcomes in Pediatric Cardiac ICU Patients

JACC: Advances

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JACC: Advances 2023年第9期2卷 100634-100634页

作者： Brunetti, Marissa A. Griffis, Heather M. Glatz, Andrew C. Huang, Jing Schumacher, Kurt R. Bailly, David K. Domnina, Yuliya Lasa, Javier J. Moga, Michael Alice Zaccagni, Hayden Simsic, Janet M. Gaynor, J. William Department of Anesthesiology and Critical Care Medicine University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia Philadelphia Pennsylvania USA United States Data Science and Biostatistics Unit Department of Biomedical and Health Informatics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA United States Division of Cardiology Department of Pediatrics University of Pennsylvania Perelman School of Medicine Children's Hospital of Philadelphia Center for Pediatric Clinical Effectiveness Children's Hospital of Philadelphia Philadelphia Pennsylvania USA United States Leonard Davis Institute and Cardiovascular Outcomes Quality Evaluative Research Center Perelman School of Medicine at the University of Pennsylvania Philadelphia PA United States Department of Biostatistics Epidemiology and Informatics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA United States Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA United States Department of Pediatrics University of Michigan Medical School and C.S. Mott Children's Hospital Ann Arbor Michigan USA United States Department of Pediatrics University of Utah and Primary Children's Hospital Salt Lake City Utah USA United States Division of Cardiac Critical Care Medicine George Washington University School of Medicine and Children's National Hospital Washington DC USA United States Divisions of Critical Care Medicine and Cardiology Department of Pediatrics Texas Children's Hospital Baylor College of Medicine Houston TX United States Department of Critical Care Medicine The Hospital for Sick Children Toronto Canada Section of Cardiac Critical Care Medicine Department of Pediatrics Children's of Alabama and University of Alabama Medicine Birmingham AL United States The Heart Center at Nationwide Children's Hospital Columbus OH United States Department of Surgery University of Pennsylvania Perelman School of

Background: Previous studies have reported racial disparities in extracorporeal membrane oxygenation (ECMO) utilization in pediatric cardiac patients. Objectives: The objective of this study was to determine if there was racial/ethnic variation in ECMO utilization and, if so, whether mortality was mediated by differences in ECMO utilization. Methods: This is a multicenter, retrospective cohort study of the Pediatric Cardiac Critical Care Consortium clinical registry. Analyses were stratified by hospitalization type (medical vs surgical). Logistic regression models were adjusted for confounders and evaluated the association between race/ethnicity with ECMO utilization and mortality. Secondary analyses explored interactions between race/ethnicity, insurance, and socioeconomic status with ECMO utilization and mortality. Results: A total of 50,552 hospitalizations from 34 hospitals were studied. Across all hospitalizations, 2.9% (N = 1,467) included ECMO. In medical and surgical hospitalizations, Black race and Hispanic ethnicity were associated with severity of illness proxies. In medical hospitalizations, race/ethnicity was not associated with the odds of ECMO utilization. Hospitalizations of other race had higher odds of mortality (adjusted odds ratio [aOR]: 1.61;95% CI: 1.22-2.12;P = 0.001). For surgical hospitalizations, Black (aOR: 1.24;95% CI: 1.02-1.50;P = 0.03) and other race (aOR: 1.50;95% CI: 1.17-1.93;P = 0.001) were associated with higher odds of ECMO utilization. Hospitalizations of Hispanic patients had higher odds of mortality (aOR: 1.31;95% CI: 1.03-1.68;P = 0.03). No significant interactions were demonstrated between race/ethnicity and socioeconomic status indicators with ECMO utilization or mortality. Conclusions: Black and other races were associated with increased ECMO utilization during surgical hospitalizations. There were racial/ethnic disparities in outcomes not explained by differences in ECMO utilization. Efforts to mitigate these important di

关键词： cardiac disease extracorporeal membrane oxygenation pediatric race and ethnicity

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The Brain Tumor Segmentation (BraTS) Challenge 2023: Focus on Pediatrics (CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs)

arXiv

引用

arXiv 2023年

作者： Kazerooni, Anahita Fathi Khalili, Nastaran Liu, Xinyang Haldar, Debanjan Jiang, Zhifan Anwar, Syed Muhammed Albrecht, Jake Adewole, Maruf Anazodo, Udunna Anderson, Hannah Bagheri, Sina Baid, Ujjwal Bergquist, Timothy Borja, Austin J. Calabrese, Evan Chung, Verena Conte, Gian-Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Haldar, Shuvanjan Iglesias, Juan Eugenio Janas, Anastasia Johansen, Elaine Jones, Blaise V. Kofler, Florian LaBella, Dominic Lai, Hollie Anne Van Leemput, Koen Li, Hongwei Bran Maleki, Nazanin McAllister, Aaron S. Meier, Zeke Menze, Bjoern Moawad, Ahmed W. Nandolia, Khanak K. Pavaine, Julija Piraud, Marie Poussaint, Tina Prabhu, Sanjay P. Reitman, Zachary Rodriguez, Andres Rudie, Jeffrey D. Sanchez-Montano, Mariana Shaikh, Ibraheem Salman Shah, Lubdha M. Sheth, Nakul Shinohara, Russel Taki Tu, Wenxin Viswanathan, Karthik Wang, Chunhao Ware, Jeffrey B. Wiestler, Benedikt Wiggins, Walter Zapaishchykova, Anna Aboian, Mariam Bornhorst, Miriam de Blank, Peter Deutsch, Michelle Fouladi, Maryam Hoffman, Lindsey Kann, Benjamin Lazow, Margot Mikael, Leonie Nabavizadeh, Ali Packer, Roger Resnick, Adam Rood, Brian Vossough, Arastoo Bakas, Spyridon Linguraru, Marius George Children’s Hospital of Philadelphia PhiladelphiaPA United States Department of Neurosurgery University of Pennsylvania PhiladelphiaPA United States University of Pennsylvania PhiladelphiaPA United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Neurosurgery Thomas Jefferson University Hospital PA United States Sage Bionetworks United States Lab Crestview Radiology Lagos Nigeria McGill University MontrealQC Canada Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Neurosurgery The University of Southern California CA United States Department of Radiology Duke University Medical Center United States Mayo Clinic MN United States Center for Global Health Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Informatics Technical University Munich Germany TranslaTUM - Central Institute for Translational Cancer Research Technical University of Munich Germany Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Biomedical Engineering Rutgers University New BrunswickNJ United States Athinoula A Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Yale University New HavenCT United States PrecisionFDA U.S. Food and Drug Administration Silver SpringMD United States Cincinnati Children’s Hospital Medical Center United States Helmholtz AI Helmholtz Munich Germany Department of Radiation Oncology Duke University Medical Center United States Department of Radiology Children’s Health Orange County CA United States Department of Applied Mathematics and Computer Science Technical University of Denmark Denmark Department of Radiol

Pediatric tumors of the central nervous system are the most common cause of cancer-related death in children. The five-year survival rate for high-grade gliomas in children is less than 20%. Due to their rarity, the diagnosis of these entities is often delayed, their treatment is mainly based on historic treatment concepts, and clinical trials require multi-institutional collaborations. The MICCAI Brain Tumor Segmentation (BraTS) Challenge is a landmark community benchmark event with a successful history of 12 years of resource creation for the segmentation and analysis of adult glioma. Here we present the CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge, which represents the first BraTS challenge focused on pediatric brain tumors with data acquired across multiple international consortia dedicated to pediatric neuro-oncology and clinical trials. The BraTS-PEDs 2023 challenge focuses on benchmarking the development of volumentric segmentation algorithms for pediatric brain glioma through standardized quantitative performance evaluation metrics utilized across the BraTS 2023 cluster of challenges. Models gaining knowledge from the BraTS-PEDs multi-parametric structural MRI (mpMRI) training data will be evaluated on separate validation and unseen test mpMRI dataof high-grade pediatric glioma. The CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge brings together clinicians and AI/imaging scientists to lead to faster development of automated segmentation techniques that could benefit clinical trials, and ultimately the care of children with brain tumors. © 2023, CC BY.

关键词： Tumors

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