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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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The short version of the Sexual Distress Scale (SDS-3): Measurement invariance across countries, gender identities, and sexual orientations

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International Journal of Clinical and Health Psychology 2024年第2期24卷 100461-100461页

作者： Lin, Chung-Ying Tsai, Meng-Che Koós, Mónika Nagy, Léna Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Briken, Peer 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, Ion 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 Štulhofer, Aleksandar Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta 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 Department of Pediatrics 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 NV United States Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar United Kingdom College of Education Psychology and Social Work Flinders University Adelaide Australia Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Departamento de Psicología Básica Clínica y Psicobiología University Jaume I Castelló Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de Psychologie Université de Montréal Montréal Canada Centre de recherche interdisciplinaire sur les problèmes conjugaux et les agressions sexuelles Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Institute for Sex Research Sexual Medicine & Forensic Psychiatry University Medical Center Hamburg-Eppendorf (UKE) Hamburg Germany Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico Mexico William James Center for Research Department of Education and Psychology University of Aveiro Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University

Background: The three-item Sexual Distress Scale (SDS-3) has been frequently used to assess distress related to sexuality in public health surveys and research on sexual wellbeing. However, its psychometric properties and measurement invariance across cultural, gender and sexual subgroups have not yet been examined. This multinational study aimed to validate the SDS-3 and test its psychometric properties, including measurement invariance across language, country, gender identity, and sexual orientation groups. Methods: We used global survey data from 82,243 individuals (Mean _age=32.39 years;40.3 % men, 57.0 % women, 2.8 % non-binary, and 0.6 % other genders) participating in the International Sexual Survey (ISS;https://***/) across 42 countries and 26 languages. Participants completed the SDS-3, as well as questions regarding sociodemographic characteristics, including gender identity and sexual orientation. Results: Confirmatory factor analysis (CFA) supported a unidimensional factor structure for the SDS-3, and multi-group CFA (MGCFA) suggested that this factor structure was invariant across countries, languages, gender identities, and sexual orientations. Cronbach's α for the unidimensional score was 0.83 (range between 0.76 and 0.89), and McDonald's ω was 0.84 (range between 0.76 and 0.90). Participants who did not experience sexual problems had significantly lower SDS-3 total scores (M = 2.99;SD=2.54) compared to those who reported sexual problems (M = 5.60;SD=3.00), with a large effect size (Cohen's d = 1.01 [95 % CI=-1.03, -0.98];p < 0.001). Conclusion: The SDS-3 has a unidimensional factor structure and appears to be valid and reliable for measuring sexual distress among individuals from different countries, gender identities, and sexual orientations. © 2024 The Author(s)

关键词： Confirmatory factor analysis (CFA) International sex survey Psychometric analysis Sexual distress

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Global investments in pandemic preparedness and COVID-19: development assistance and domestic spending on health between 1990 and 2026

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The Lancet Global Health 2023年第3期11卷 e385-e413页

作者： Micah, Angela E. Bhangdia, Kayleigh Cogswell, Ian E. Lasher, Dylan Lidral-Porter, Brendan Maddison, Emilie R. Nguyen, Trang Nhu Ngoc Patel, Nishali Pedroza, Paola Solorio, Juan Stutzman, Hayley Tsakalos, Golsum Wang, Yifeng Warriner, Wesley Zhao, Yingxi Zlavog, Bianca S. Abbafati, Cristiana Abbas, Jaffar Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abdelmasseh, Michael Abdulah, Deldar Morad Abedi, Aidin Abegaz, Kedir Hussein Abhilash, E.S. Aboagye, Richard Gyan Abolhassani, Hassan Abrigo, Michael R.M. Abubaker Ali, Hiwa Abu-Gharbieh, Eman Adem, Mohammed Hussien Afzal, Muhammad Sohail Ahmadi, Ali Ahmed, Haroon Ahmed Rashid, Tarik Aji, Budi Akbarialiabad, Hossein Akelew, Yibeltal Al Hamad, Hanadi Alam, Khurshid Alanezi, Fahad Mashhour Alanzi, Turki M. Al-Hanawi, Mohammed Khaled Alhassan, Robert Kaba Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Ameyaw, Edward Kwabena Amini-Rarani, Mostafa Amu, Hubert Ancuceanu, Robert Andrei, Tudorel Anwar, Sumadi Lukman Appiah, Francis Aqeel, Muhammad Arabloo, Jalal Arab-Zozani, Morteza Aravkin, Aleksandr Y. Aremu, Olatunde Aruleba, Raphael Taiwo Athari, Seyyed Shamsadin Avila-Burgos, Leticia Ayanore, Martin Amogre Azari, Samad Baig, Atif Amin Bantie, Abere Tilahun Barrow, Amadou Baskaran, Pritish Basu, Sanjay Batiha, Abdul-Monim Mohammad Baune, Bernhard T. Berezvai, Zombor Bhardwaj, Nikha Bhardwaj, Pankaj Bhaskar, Sonu Boachie, Micheal Kofi Bodolica, Virginia Botelho, João Silva Botelho Braithwaite, Dejana Breitborde, Nicholas J.K. Busse, Reinhard Cahuana-Hurtado, Lucero Catalá-López, Ferrán Chansa, Collins Charan, Jaykaran Chattu, Vijay Kumar Chen, Simiao Chukwu, Isaac Sunday Dadras, Omid Dandona, Lalit Dandona, Rakhi Dargahi, Abdollah Debela, Sisay Abebe Denova-Gutiérrez, Edgar Desye, Belay Dharmaratne, Samath Dhamminda Diao, Nancy Doan, Linh Phuong Dodangeh, Milad dos Santos, Wendel Mombaque Doshmangir, Leila Dube, John Eini, Ebrahim El Sayed Zaki, Maysaa El Tantawi, Maha Enyew, Daniel Berhanie Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Applied Mathematics University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Nuffield Department of Medicine University of Oxford Oxford United Kingdom Department of Juridical and Economic Studies La Sapienza University Rome Italy Antai College of Economics Shanghai Jiao Tong University Shanghai China Non-communicable Diseases Research Center Tehran University of Medical Sciences Tehran Iran Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Center Tehran University of Medical Sciences Tehran Iran Children’s Medical Center Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Tehran Heart Center Tehran University of Medical Sciences Tehran Iran Faculty of Medicine Tehran University of Medical Sciences Tehran Iran National Institute for Health Research Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Department of Cardiology Tehran University of Medical Sciences Tehran Iran Sina Trauma and Surgery Research Center Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Department of Neurology Tehran University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurosurgery Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic R

Background: The COVID-19 pandemic highlighted gaps in health surveillance systems, disease prevention, and treatment globally. Among the many factors that might have led to these gaps is the issue of the financing of national health systems, especially in low-income and middle-income countries (LMICs), as well as a robust global system for pandemic preparedness. We aimed to provide a comparative assessment of global health spending at the onset of the pandemic;characterise the amount of development assistance for pandemic preparedness and response disbursed in the first 2 years of the COVID-19 pandemic;and examine expectations for future health spending and put into context the expected need for investment in pandemic preparedness. Methods: In this analysis of global health spending between 1990 and 2021, and prediction from 2021 to 2026, we estimated four sources of health spending: development assistance for health (DAH), government spending, out-of-pocket spending, and prepaid private spending across 204 countries and territories. We used the Organisation for Economic Co-operation and Development (OECD)'s Creditor Reporting System (CRS) and the WHO Global Health Expenditure database (GHED) to estimate spending. We estimated development assistance for general health, COVID-19 response, and pandemic preparedness and response using a keyword search. Health spending estimates were combined with estimates of resources needed for pandemic prevention and preparedness to analyse future health spending patterns, relative to need. Findings: In 2019, at the onset of the COVID-19 pandemic, US$9·2 trillion (95% uncertainty interval [UI] 9·1–9·3) was spent on health worldwide. We found great disparities in the amount of resources devoted to health, with high-income countries spending $7·3 trillion (95% UI 7·2–7·4) in 2019;293·7 times the $24·8 billion (95% UI 24·3–25·3) spent by low-income countries in 2019. That same year, $43·1 billion in development assistance was provided

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CHAOS Challenge - Combined (CT-MR) healthy abdominal organ segmentation

arXiv

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arXiv 2020年

作者： Kavur, A. Emre Gezer, N. Sinem Barış, Mustafa Conze, Pierre-Henri Groza, Vladimir Pham, Duc Duy Chatterjee, Soumick Ernst, Philipp Özkan, Savaş Baydar, Bora Lachinov, Dmitry Han, Shuo Pauli, Josef Isensee, Fabian Perkonigg, Matthias Sathish, Rachana Rajan, Ronnie Aslan, Sinem Sheet, Debdoot Dovletov, Gurbandurdy Speck, Oliver Nürnberger, Andreas Maier-Hein, Klaus H. Akar, Gözde Bozdagı Ünal, Gözde Dicle, Oguz Selver, M. Alper Graduate School of Natural and Applied Sciences Dokuz Eylul University Izmir Turkey Department of Radiology Faculty Of Medicine Dokuz Eylul University Izmir Turkey Dept. of Ophthalmology and Optometry Medical Uni. of Vienna Austria Intelligent Systems Faculty of Engineering University of Duisburg-Essen Germany Division of Medical Image Computing German Cancer Research Center Heidelberg Germany CIR Lab Dept of Biomedical Imaging and Image-guided Therapy Medical Uni. of Vienna Austria IMT Atlantique LaTIM UMR 1101 Brest France Department of Electrical and Electronics Engineering Middle East Technical University Ankara Turkey Department of Electrical Engineering Indian Institute of Technology Kharagpur India School of Medical Science and Technology Indian Institute of Technology Kharagpur India Ca’ Foscari University of Venice ECLT DAIS Venice Italy Ege University International Computer Institute Izmir Turkey Johns Hopkins University Baltimore United States Data and Knowledge Engineering Group Otto von Guericke University Magdeburg Germany Magnetic Resonance Otto von Guericke University Magdeburg Germany Median Technologies Valbonne France Department of Computer Engineering Istanbul Technical University Istanbul Turkey Department of Electrical and Electronics Engineering Dokuz Eylul University Izmir Turkey

—Segmentation of abdominal organs has been a comprehensive, yet unresolved, research field for many years. In the last decade, intensive developments in deep learning (DL) have introduced new state-of-the-art segmentation systems. Despite outperforming the overall accuracy of existing systems, the effects of DL model properties and parameters on the performance is hard to interpret. This makes comparative analysis a necessary tool to achieve explainable studies and systems. Moreover, the performance of DL for emerging learning approaches such as cross-modality and multi-modal tasks have been rarely discussed. In order to expand the knowledge in these topics, CHAOS – Combined (CT-MR) Healthy Abdominal Organ Segmentation challenge has been organized in the IEEE International Symposium on Biomedical Imaging (ISBI), 2019, in Venice, Italy. Despite a large number of the previous abdomen related challenges, the majority of which are focused on tumor/lesion detection and/or classification with a single modality, CHAOS providesboth abdominal CT and MR data from healthy subjects. Five different and complementary tasks have been designed to analyze the capabilities of the current approaches from multiple perspectives. The results are investigated thoroughly, compared with manual annotations and interactive methods. The outcomes are reported in detail to reflect the latest advancements in the field. CHAOS challenge and data will be available online to provide a continuous benchmark resource for segmentation. Copyright © 2020, The Authors. All rights reserved.

关键词： Medical imaging

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The Brain Tumor Sequence Registration (BraTS-Reg) Challenge: Establishing Correspondence Between Pre-Operative and Follow-up MRI Scans of Diffuse Glioma Patients

arXiv

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arXiv 2021年

作者： Baheti, Bhakti Chakrabarty, Satrajit Akbari, Hamed Bilello, Michel Wiestler, Benedikt Schwarting, Julian Calabrese, Evan Rudie, Jeffrey Abidi, Syed Mousa, Mina Villanueva-Meyer, Javier Fields, Brandon K.K. Kofler, Florian Shinohara, Russell Takeshi Iglesias, Juan Eugenio Mok, Tony C.W. Chung, Albert C.S. Wodzinski, Marek Jurgas, Artur Marini, Niccolò Atzori, Manfredo Müller, Henning Grosbröhmer, Christoph Siebert, Hanna Hansen, Lasse Heinrich, Mattias P. Canalini, Luca Klein, Jan Gerken, Annika Heldmann, Stefan Hering, Alessa Hahn, Horst K. Meng, Mingyuan Bi, Lei Feng, Dagan Kim, Jinman Zeineldinal, Ramy A. Karar, Mohamed E. Mathis-Ullrich, Franziska Burgert, Oliver Abderezaei, Javid Pionteck, Aymeric Chopra, Agamdeep Kurt, Mehmet Yan, Kewei Yan, Yonghong Tang, Zhe Ma, Jianqiang Nasser, Sahar Almahfouz Kurian, Nikhil Cherian Meena, Mohit Shamsi, Saqib Sethi, Amit Tustison, Nicholas J. Avants, Brian B. Cook, Philip Gee, James C. Tian, Lin Greer, Hastings Niethammer, Marc Hoopesar, Andrew Hoffmannas, Malte Dalcaar, Adrian V. Christodoulidis, Stergios Estiene, Théo Vakalopoulou, Maria Paragios, Nikos Marcus, Daniel S. Davatzikos, Christos Sotiras, Aristeidis Menze, Bjoern Bakas, Spyridon Waldmannstetter, Diana Division of Computational Pathology Department of Pathology and Laboratory Medicine Indiana University School of Medicine IndianapolisIN United States Department of Electrical and Systems Engineering Washington University in St. Louis St. LouisMO United States GE HealthCare San RamonCA United States University of Pennsylvania PhiladelphiaPA United States Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Mallinckrodt Institute of Radiology Washington University School of Medicine St. LouisMO United States Institute for Informatics Data Science & Biostatistics Washington University School of Medicine St. LouisMO United States Department of Bioengineering Santa Clara University Santa ClaraCA United States Department of Quantitative Biomedicine University of Zurich Zurich Switzerland Department of Computer Science TUM School of Computation Information and Technology Technical University of Munich Munich Germany Department of Diagnostic and Interventional Neuroradiology School of Medicine Klinikum rechts der Isar Technical University of Munich Munich Germany Department of Nuclear Medicine University Hospital Regensburg Regensburg Germany University Hospital Regensburg Regensburg Germany Department of Radiology & Biomedical Imaging University of California San FranciscoCA United States Department of Radiology Duke University Medical Center DurhamNC United States Department of Radiology University of California San DiegoCA United States Helmholtz AI Helmholtz Munich Neuherberg Germany Penn Statistics in Imaging and Visualization Center Department of Biostatistics Epidemiology and Informatics University of Pennsylvania Philadelphia United States Massachusetts General Hospital Harvard Medical School United States Centre for Medical Imaging Computing University College London United Kingdom The Hong Kong University of Science and Technology Hong Kong University of Applied Sciences West

Registration of longitudinal brain Magnetic Resonance Imaging (MRI) scans containing pathologies is challenging due to dramatic changes in tissue appearance. Although there has been considerable progress in developing general-purpose medical image registration techniques, they have not yet attained the requisite precision and reliability for this task, highlighting its inherent complexity. Here we describe the Brain Tumor Sequence Registration (BraTS-Reg) challenge, as the first public benchmark environment for deformable registration algorithms focusing on estimating correspondences between pre-operative and follow-up scans of the same patient diagnosed with a diffuse brain glioma. The challenge was conducted in conjunction with both the IEEE International Symposium on Biomedical Imaging (ISBI) 2022 and the International Conference on Medical Image Computing and Computer-Assisted Intervention (MICCAI) 2022. The BraTS-Reg data comprise de-identified multi-institutional multi-parametric MRI (mpMRI) scans, curated for size and resolution according to a canonical anatomical template, and divided into training, validation, and testing sets. Clinical experts annotated ground truth (GT) landmark points of anatomical locations distinct across the temporal domain. The training data with their GT annotations, were publicly released to enable the development of registration algorithms. The validation data, without their GT annotations, were also released to allow for algorithmic evaluation prior to the testing phase, which only allowed submission of containerized algorithms for evaluation on hidden hold-out testing data. Quantitative evaluation and ranking was based on the Median Euclidean Error (MEE), Robustness, and the determinant of the Jacobian of the displacement field. The top-ranked methodologies yielded similar performance across all evaluation metrics and shared several methodological commonalities, including pre-alignment, deep neural networks, inverse consistency

关键词： Magnetic resonance imaging

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SPIRIT 2025 statement: updated guideline for protocols of randomised trials

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The Lancet 2025年第10491期405卷 e19-e27页

作者： An-Wen Chan Isabelle Boutron Sally Hopewell David Moher Kenneth F Schulz Gary S Collins Ruth Tunn Rakesh Aggarwal Michael Berkwits Jesse A Berlin Nita Bhandari Nancy J Butcher Marion K Campbell Runcie C W Chidebe Diana R Elbourne Andrew J Farmer Dean A Fergusson Robert M Golub Steven N Goodman Tammy C Hoffmann Asbjørn Hróbjartsson Department of Medicine Women's College Research Institute University of Toronto Toronto ON Canada Université Paris Cité and Université Sorbonne Paris Nord Inserm INRAE Centre for Research in Epidemiology and Statistics Paris France Centre d'Epidémiologie Clinique Hôpital Hôtel Dieu AP-HP Paris France Oxford Clinical Trials Research Unit Centre for Statistics in Medicine University of Oxford Oxford UK Centre for Journalology Clinical Epidemiology Programme Ottawa Hospital Research Institute Ottawa ON Canada Department of Obstetrics and Gynecology School of Medicine University of North Carolina at Chapel Hill Chapel Hill NC USA UK EQUATOR Centre Centre for Statistics in Medicine University of Oxford Oxford UK Jawaharlal Institute of Postgraduate Medical Education and Research Puducherry India Office of Science Dissemination US Centers for Disease Control and Prevention Atlanta GA USA Department of Biostatistics and Epidemiology School of Public Health Center for Pharmacoepidemiology and Treatment Science Rutgers University New Brunswick NJ USA JAMA Network Open Chicago IL USA Centre for Health Research and Development Society for Applied Studies New Delhi India Child Health Evaluation Services The Hospital for Sick Children Research Institute Toronto ON Canada Department of Psychiatry University of Toronto Toronto ON Canada Aberdeen Centre for Evaluation University of Aberdeen Aberdeen UK Project PINK BLUE Health & Psychological Trust Centre Abuja Nigeria Department of Sociology and Gerontology Miami University OH USA Department of Medical Statistics London School of Hygiene and Tropical Medicine London UK Nuffield Department of Primary Care Health Sciences University of Oxford Oxford UK Ottawa Hospital Research Institute Ottawa ON Canada Department of Medicine Northwestern University Feinberg School of Medicine Chicago IL USA Department of Epidemiology and Population Health Stanford University Palo Alto CA USA Institute for Evidence

The protocol of a randomised trial is the foundation for study planning, conduct, reporting, and external review. However, trial protocols vary in their completeness and often do not address key elements of design and conduct. The SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) statement was first published in 2013 as guidance to improve the completeness of trial protocols. Periodic updates incorporating the latest evidence and best practices are needed to ensure that the guidance remains relevant to users. We aimed to systematically update the SPIRIT recommendations for minimum items to address in the protocol of a randomised trial. We completed a scoping review and developed a project specific database of empirical and theoretical evidence to generate a list of potential changes to the SPIRIT 2013 checklist. The list was enriched with recommendations provided by lead authors of existing SPIRIT/CONSORT (Consolidated Standards of Reporting Trials) extensions (Harms, Outcomes, Non-pharmacological Treatment) and other reporting guidelines (TIDieR). The potential modifications were rated in a three-round Delphi survey followed by a consensus meeting. Overall, 317 individuals participated in the Delphi consensus process and 30 experts attended the consensus meeting. The process led to the addition of two new protocol items, revision to five items, deletion/merger of five items, and integration of key items from other relevant reporting guidelines. Notable changes include a new open science section, additional emphasis on the assessment of harms and description of interventions and comparators, and a new item on how patients and the public will be involved in trial design, conduct, and reporting. The updated SPIRIT 2025 statement consists of an evidence based checklist of 34 minimum items to address in a trial protocol, along with a diagram illustrating the schedule of enrolment, interventions, and assessments for trial participants. To facili

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The need to implement FAIR principles in biomolecular simulations

arXiv

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arXiv 2024年

作者： Amaro, R. Åqvist, J. Bahar, I. Battistini, F. Bellaiche, A. Beltran, D. Biggin, P.C. Bonomi, M. Bowman, G.R. Bryce, R. Bussi, G. Carloni, P. Case, D. Cavalli, A. Chang, C.A. Cheatham, T.E. Cheung, M.S. Chipot, C. Chong, L.T. Choudhary, P. Cisneros, G.A. Clementi, C. Collepardo-Guevara, R. Coveney, P. Covino, R. Crawford, T.D. Dal Peraro, M. de Groot, B. Delemotte, L. De Vivo, M. Essex, J. Fraternali, F. Gao, J. Gelpí, J.L. Gervasio, F.L. Gonzalez-Nilo, F.D. Grubmüller, H. Guenza, M.G. Guzman, H.V. Harris, S. Head-Gordon, T. Hernandez, R. Hospital, A. Huang, N. Huang, X. Hummer, G. Iglesias-Fernández, J. Jensen, J.H. Jha, S. Jiao, W. Jorgensen, W.L. Kamerlin, S.C.L. Khalid, S. Laughton, C. Levitt, M. Limongelli, V. Lindahl, E. Lindorff-Larsen, K. Loverde, S. Lundborg, M. Luo, Y.L. Luque, F.J. Lynch, C.I. MacKerell, A. Magistrato, A. Marrink, S.J. Martin, H. McCammon, J.A. Merz, K. Moliner, V. Mulholland, A. Murad, S. Naganathan, A.N. Nangia, S. Noe, F. Noy, A. Oláh, J. O'Mara, M. Ondrechen, M.J. Onuchic, J.N. Onufriev, A. Osuna, S. Palermo, G. Panchenko, A.R. Pantano, S. Parish, C. Parrinello, M. Perez, A. Perez-Acle, T. Perilla, J.R. Pettitt, B.M. Pietropaolo, A. Piquemal, J.-P. Poma, A. Praprotnik, M. Ramos, M.J. Ren, P. Reuter, N. Roitberg, A. Rosta, E. Rovira, C. Roux, B. Röthlisberger, U. Sanbonmatsu, K. Schlick, T. Shaytan, A.K. Simmerling, C. Smith, J.C. Sugita, Y. Świderek, K. Taiji, M. Tao, P. Tikhonova, I.G. Tirado-Rives, J. Tuñón, I. Van Der Kamp, M.W. Van der Spoel, D. Velankar, S. Voth, G.A. Wade, R. Warshel, A. Welborn, V.V. Wetmore, S. Wong, C.F. Yang, L.-W. Zacharias, M. Orozco, M. Department of Molecular Biology University of California San DiegoCA United States Department of Cell and Molecular Biology Uppsala University Uppsala Sweden Laufer Center for Physical and Quantitative Biology Renaissance School of Medicine Stony Brook University Stony BrookNY United States Department of Biochemistry and Cell Biology Renaissance School of Medicine Stony Brook University Stony BrookNY United States Barcelona Spain European Molecular Biology Laboratory European Bioinformatics Institute Hinxton United Kingdom Structural Bioinformatics and Computational Biochemistry Department of Biochemistry University of Oxford Oxford United Kingdom Institut Pasteur Université Paris Cité CNRS UMR 3528 Computational Structural Biology Unit Paris France Department of Biochemistry and Biophysics University of Pennsylvania PhiladelphiaPA United States Division of Pharmacy and Optometry University of Manchester Manchester United Kingdom Scuola Internazionale Superiore di Studi Avanzati-SISSA Trieste Italy Computational Biomedicine Institute of Advanced Simulations IAS-5 Institute for Neuroscience and Medicine INM-9 Forschungszentrum Jülich GmbH Jülich Germany Department of Physics and Universitätsklinikum RWTH Aachen University Aachen Germany Department of Chemistry & Chemical Biology Rutgers University PiscatawayNJ United States Istituto Italiano di Tecnologia Drug Discovery and Development Bologna Italy Lausanne Switzerland Department of Chemistry University of California RiversideCA United States Department of Medicinal Chemistry College of Pharmacy University of Utah Salt Lake CityUT United States Department of Physics University of Washington SeattleWA United States Pacific Northwest National Laboratory RichlandWA United States LIA CNRS-UIUC UMR n°7019 Université de Lorraine Vandœuvre-lès-Nancy France Department of Physics University of Illinois at Urbana-Champaign UrbanaIL United States Department of Biochemistry and Molecular Biol

The communities that embraced data archiving efforts decades ago are now, in the era of data-driven biology, those gaining the most from the AI revolution. The structural biology community was a pioneer in this regard by establishing the Protein data Bank (PDB) in 1971 and making data accessible using the FAIR (Findable, Accessible, Interoperable and Reusable) principles even before these were articulated [1, 2]. The genomics/bioinformatics community has followed the example, establishing many widely used databases [3, 4]. By contrast, molecular simulation has been anchored in usage paradigms dating back to the seventies, when molecular dynamics (MD) simulation was first applied to study biomacromolecules [5]. At that time, MD was used by theoretical physicists and chemists in "proof of concept" simulations. Still, fifty years later, MD has evolved into a cornerstone molecular biology technique that can provide accurate quantitative analysis and property prediction. MD is now employed by tens of thousands of researchers worldwide, accounting for roughly 15% of global supercomputer usage. Unfortunately, these rich and costly data are not systematically maintained, and when further analyses are required, simulations have to be rerun-an unacceptable situation from scientific, environmental and sustainability standpoints. In this letter, we argue for a collaborative endeavor to archive MD simulation data and describe ongoing efforts to establish cost-effective and sustainable data archiving strategies. © 2024, CC BY-NC-SA.

关键词： Biotic

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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

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science 2020年第6523期370卷 000-000页

作者： Warren, Wesley C. Harris, R. Alan Haukness, Marina Fiddes, Ian T. Murali, Shwetha C. Fernandes, Jason Dishuck, Philip C. Storer, Jessica M. Raveendran, Muthuswamy Hillier, LaDeana W. Porubsky, David Mao, Yafei Gordon, David Vollger, Mitchell R. Lewis, Alexandra P. Munson, Katherine M. DeVogelaere, Elizabeth Armstrong, Joel Diekhans, Mark Walker, Jerilyn A. Tomlinson, Chad Graves-Lindsay, Tina A. Kremitzki, Milinn Salama, Sofie R. Audano, Peter A. Escalona, Merly Maurer, Nicholas W. Antonacci, Francesca Mercuri, Ludovica Maggiolini, Flavia A. M. Catacchio, Claudia Rita Underwood, Jason G. O'Connor, David H. Sanders, Ashley D. Korbel, Jan O. Ferguson, Betsy Kubisch, H. Michael Picker, Louis Kalin, Ned H. Rosene, Douglas Levine, Jon Abbott, David H. Gray, Stanton B. Sanchez, Mar M. Kovacs-Balint, Zsofia A. Kemnitz, Joseph W. Thomasy, Sara M. Roberts, Jeffrey A. Kinnally, Erin L. Capitanio, John P. Skene, J. H. Pate Platt, Michael Cole, Shelley A. Green, Richard E. Ventura, Mario Wiseman, Roger W. Paten, Benedict Batzer, Mark A. Rogers, Jeffrey Eichler, Evan E. Department of Animal Sciences Bond Life Sciences Center University of Missouri Columbia MO 65211 USA. Department of Surgery School of Medicine University of Missouri Columbia MO 65211 USA. Institute of Data Science and Informatics University of Missouri Columbia MO 65211 USA. Human Genome Sequencing Center Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Computational Genomics Laboratory University of California-Santa Cruz Santa Cruz CA 95064 USA. Inscripta Inc. Boulder CO 80301 USA. Department of Genome Sciences University of Washington Seattle WA 98195 USA. Howard Hughes Medical Institute University of Washington Seattle WA 98195 USA. Department of Biomolecular Engineering University of California-Santa Cruz Santa Cruz CA 95064 USA. Department of Biological Sciences Louisiana State University Baton Rouge LA 70803 USA. Institue for Systems Biology Seattle WA 98109 USA. McDonnell Genome Institute Washington University St. Louis MO 63108 USA. Department of Biology University of Bari ’Aldo Moro’ 70125 Bari Italy. Pacific Biosciences of California Seattle WA 94025 USA. Department of Pathology and Laboratory Medicine Wisconsin National Primate Research Center University of Wisconsin-Madison Madison WI 53711 USA. European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany. Division of Genetics Oregon National Primate Research Center Oregon Health and Science University Beaverton OR 97006 USA. Tulane National Primate Research Center Covington LA 70433 USA. Oregon National Primate Research Center and Vaccine and Gene Therapy Institute Oregon Health Sciences University Beaverton OR 97006 USA. Department of Psychiatry University of Wisconsin School of Medicine and Public Health Madison WI 53719 USA. Department of Anatomy and Neurobiology Boston University School of Medicine Boston MA 02118 USA. Department of Neuroscience University of Wisconsin Madison WI 53175 USA. Wisconsin N

The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.

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Publisher Correction: An international perspective on the future of systemic sclerosis research

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Nature reviews. Rheumatology 2025年第4期21卷 249页

作者： David J Abraham Carol M Black Christopher P Denton Jörg H W Distler Robyn Domsic Carol Feghali-Bostwick Pravitt Gourh Monique Hinchcliff Fred Kolling Masataka Kuwana Robert Lafyatis Ulf Landegren J Matthew Mahoney Javier Martin Marco Matucci-Cerinic Zsuzsanna H McMahan Ana L Mora Luc Mouthon Marlene Rabinovitch Mauricio Rojas Kristofer Rubin Maria Trojanowska John Varga Michael L Whitfield Armando Gabrielli Thomas Krieg Department of Inflammation and Rare Diseases UCL Centre for Rheumatology UCL Division of Medicine Royal Free Hospital Campus London UK. david.abraham@ucl.ac.uk. Department of Inflammation and Rare Diseases UCL Centre for Rheumatology UCL Division of Medicine Royal Free Hospital Campus London UK. Department of Rheumatology University Hospital Düsseldorf Medical Faculty of the Heinrich-Heine University Düsseldorf Germany. Hiller Research Center University Hospital Düsseldorf Medical Faculty of Heinrich Heine University Düsseldorf Germany. Division of Rheumatology Department of Internal Medicine University of Pittsburgh Pittsburgh PA USA. Department of Medicine Division of Rheumatology and Immunology Medical University of South Carolina Charleston SC USA. Scleroderma Genomics and Health Disparities Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health Bethesda MD USA. Division of Rheumatology Allergy and Immunology Department of Internal Medicine Yale School of Medicine New Haven CT USA. Geisel School of Medicine at Dartmouth Hanover NH USA. Department of Allergy and Rheumatology. Nippon Medical School Graduate School of Medicine Tokyo Japan. Division of Rheumatology and Clinical Immunology. University of Pittsburgh School of Medicine Pittsburgh PA USA. Department of Immunology Genetics and Pathology Research programme: Molecular Tools and Functional Genomics Uppsala University Uppsala Sweden. The Jackson Laboratory Bar Harbour ME USA. Department of Cell Biology and Immunology Institute of Parasitology and Biomedicine López-Neyra CSIC Granada Spain. Unit of Immunology Rheumatology Allergy and Rare Diseases and Inflammation fibrosis and aging Initiative IRCCS Ospedle San Raffaele and Vita Salute University San Raffaele Milan Italy. Department of Internal Medicine Division of Rheumatology UTHealth Houston Houston TX USA. Division of Pulmonary Critical Care and Sleep Medicine Davis Heart and Lung r

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Insights from the first flaring activity of a high-synchrotron-peaked blazar with X-ray polarization and VHE gamma rays

arXiv

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arXiv 2024年

作者： Abe, K. Abe, S. Abhir, J. Abhishek, A. Acciari, V.A. Aguasca-Cabot, A. Agudo, I. Aniello, T. Ansoldi, S. Antonelli, L.A. Engels, A. Arbet Arcaro, C. Asano, K. Babić, A. de Almeida, U. Barres Barrio, J.A. Barrios-Jiménez, L. Batković, I. Baxter, J. González, J. Becerra Bednarek, W. Bernardini, E. Bernete, J. Berti, A. Besenrieder, J. Bigongiari, C. Biland, A. Blanch, O. Bonnoli, G. Bošnjak, Ž. Bronzini, E. Burelli, I. Campoy-Ordaz, A. Carosi, A. Carosi, R. Carretero-Castrillo, M. Castro-Tirado, A.J. Cerasole, D. Ceribella, G. Chai, Y. Chilingarian, A. Cifuentes, A. Colombo, E. Contreras, J.L. Cortina, J. Covino, S. D’Ammando, F. D’Amico, G. Da Vela, P. Dazzi, F. De Angelis, A. De Lotto, B. de Menezes, R. Delfino, M. Delgado, J. Mendez, C. Delgado Di Pierro, F. Di Tria, R. Di Venere, L. Dinesh, A. Prester, D. Dominis Donini, A. Dorner, D. Doro, M. Eisenberger, L. Elsaesser, D. Escudero, J. Fariña, L. Foffano, L. Font, L. Fröse, S. Fukazawa, Y. López, R.J. García Garczarczyk, M. Gasparyan, S. Gaug, M. Paiva, J.G. Giesbrecht Giglietto, N. Giordano, F. Gliwny, P. Godinović, N. Gradetzke, T. Grau, R. Green, D. Green, J.G. Günther, P. Hadasch, D. Hahn, A. Hassan, T. Heckmann, L. Llorente, J. Herrera Hrupec, D. Imazawa, R. Israyelyan, D. Itokawa, T. Martínez, I. Jiménez Quiles, J. Jiménez Jormanainen, J. Kankkunen, S. Kayanoki, T. Kerszberg, D. Khachatryan, M. Kluge, G.W. Kobayashi, Y. Konrad, J. Kouch, P.M. Kubo, H. Kushida, J. Láinez, M. Lamastra, A. Lindfors, E. Lombardi, S. Longo, F. López-Coto, R. López-Moya, M. López-Oramas, A. Loporchio, S. Lorini, A. Lyard, E. Majumdar, P. Makariev, M. Maneva, G. Manganaro, M. Mangano, S. Mannheim, K. Mariotti, M. Martínez, M. Maruševec, P. Mas-Aguilar, A. Mazin, D. Menchiari, S. Mender, S. Miceli, D. Miranda, J.M. Mirzoyan, R. González, M. Molero Molina, E. Mondal, H.A. Moralejo, A. Nakamori, T. Nanci, C. Neustroev, V. Nickel, L. Rosillo, M. Nievas Nigro, C. Nikolic, L. Nilsson, K. Nishijima, K. Ekoume, T. Njoh Japanese MAGIC Group Department of Physics Tokai University Kanagawa Hiratsuka259-1292 Japan The University of Tokyo Chiba Kashiwa277-8582 Japan ETH Zürich ZürichCH-8093 Switzerland Università di Siena INFN Pisa SienaI-53100 Italy Barcelona BellaterraE-08193 Spain Universitat de Barcelona ICCUB IEEC-UB BarcelonaE-08028 Spain Instituto de Astrofísica de Andalucía CSIC Glorieta de la Astronomía s/n Granada18008 Spain RomeI-00136 Italy Università di Udine INFN Trieste UdineI-33100 Italy Max-Planck-Institut für Physik GarchingD-85748 Germany Università di Padova INFN PadovaI-35131 Italy Zagreb10000 Croatia URCA RJ Rio de Janeiro22290-180 Brazil IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain Instituto de Astrofísica de Canarias Dpto. de Astrofísica Universidad de La Laguna Tenerife La LagunaE-38200 Spain University of Lodz Faculty of Physics and Applied Informatics Department of Astrophysics Lodz90-236 Poland Centro de Investigaciones Energéticas Medioambientales y Tecnológicas MadridE-28040 Spain Departament de Física CERES-IEEC Universitat Autònoma de Barcelona BellaterraE-08193 Spain Università di Pisa INFN Pisa PisaI-56126 Italy INFN MAGIC Group INFN Sezione di Bari Dipartimento Interateneo di Fisica dell’Università e del Politecnico di Bari BariI-70125 Italy Armenian MAGIC Group A. Alikhanyan National Science Laboratory Yerevan0036 Armenia Department for Physics and Technology University of Bergen Norway INFN MAGIC Group INFN Sezione di Torino Università degli Studi di Torino TorinoI-10125 Italy Croatian MAGIC Group University of Rijeka Faculty of Physics Rijeka51000 Croatia Universität Würzburg WürzburgD-97074 Germany Technische Universität Dortmund DortmundD-44221 Germany Japanese MAGIC Group Physics Program Graduate School of Advanced Science and Engineering Hiroshima University Hiroshima739-8526 Japan ZeuthenD-15738 Germany Armenian MAGIC Gr

Context. Blazars exhibit strong variability across the entire electromagnetic spectrum, including periods of high-flux states commonly dubbed as flares. The physical mechanisms in blazar jets responsible for flares remain to date poorly understood. Aims. We aim to better understand the emission mechanisms during blazar flares using X-ray polarimetry and broadband observations from the archetypical TeV blazar Mrk 421, which can be studied with higher accuracy than other blazars that are dimmer and/or located farther away. Methods. We study a flaring activity from December 2023 that was characterized from radio to very-high-energy (VHE;E > 0.1 TeV) gamma rays with MAGIC, Fermi-LAT, Swift, XMM-Newton and several optical and radio telescopes. These observations included, for the first time for a gamma-ray flare of a blazar, simultaneous X-ray polarization measurements with IXPE, besides optical and radio polarimetry data. We quantify the variability and correlations among the multi-band flux and polarization measurements, and describe the varying broadband emission within a theoretical scenario constrained by the polarization data. Results. We find substantial variability in both X-rays and VHE gamma rays throughout the campaign, with the highest VHE flux above 0.2 TeV occurring during the IXPE observing window, and exceeding twice the flux of the Crab Nebula. However, the VHE and X-ray spectra are on average softer, and the correlation between these two bands weaker that those reported in previous flares of Mrk 421. IXPE reveals an X-ray polarization degree significantly higher than that at radio and optical frequencies, similar to previous results on Mrk 421 and other high-synchrotron-peaked blazars. Differently to past observations, the X-ray polarization angle varies by ∼100◦ on timescales of days, and the polarization degree changes by more than a factor 4. The highest X-ray polarization degree, analyzed in 12 hrs time intervals, reaches 26 ± 2%, around which an X-

关键词： Gamma rays

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