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

Nature communications 2025年第1期16卷 4852页

作者： Maria Zanti Denise G O'Mahony Michael T Parsons Leila Dorling Joe Dennis Nicholas J Boddicker Wenan Chen Chunling Hu Marc Naven Kristia Yiangou Thomas U Ahearn Christine B Ambrosone Irene L Andrulis Antonis C Antoniou Paul L Auer Caroline Baynes Clara Bodelon Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Kristen D Brantley Nicola J Camp Archie Campbell Jose E Castelao Melissa H Cessna Jenny Chang-Claude Fei Chen Georgia Chenevix-Trench Don M Conroy Kamila Czene Arcangela De Nicolo Susan M Domchek Thilo Dörk Alison M Dunning A Heather Eliassen D Gareth Evans Peter A Fasching Jonine D Figueroa Henrik Flyger Manuela Gago-Dominguez Montserrat García-Closas Gord Glendon Anna González-Neira Felix Grassmann Andreas Hadjisavvas Christopher A Haiman Ute Hamann Steven N Hart Mikael B A Hartman Weang-Kee Ho James M Hodge 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 Sara Lindström Artitaya Lophatananon Craig Luccarini Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L Milne Kenneth Muir Katherine L Nathanson Rocio Nuñez-Torres Nadia Obi Janet E Olson Julie R Palmer Mihalis I Panayiotidis Alpa V Patel Paul D P Pharoah Eric C Polley Muhammad U Rashid Kathryn J Ruddy Emmanouil Saloustros Elinor J Sawyer Marjanka K Schmidt Melissa C Southey Veronique Kiak-Mien Tan Soo Hwang Teo Lauren R Teras Diana Torres Amy Trentham-Dietz Thérèse Truong Celine M Vachon Qin Wang Jeffrey N Weitzel Siddhartha Yadav Song Yao Gary R Zirpoli Melissa S Cline Peter Devilee Sean V Tavtigian David E Goldgar Fergus J Couch Douglas F Easton Amanda B Spurdle Kyriaki Michailidou 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. 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. 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. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. 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 Huntsman Cancer Institute University of Utah Salt Lake City UT USA. Centre for Genomic and Experimental Medicine Institute of Genetics & Cancer The University of Ed

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 of BRCA1 and BRCA2 from 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 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4% of BRCA1 and BRCA2 VUS 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 for BRCA1 and 93.3% sensitivity and 86.6% specificity for BRCA2. 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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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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CLINICAL SIGNIFICANCE OF T-CELL EXHAUSTION IN PATIENTS WITH DIFFUSE LARGE B-CELL LYMPHOMA

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Hematological oncology 2019年第S2期37卷

作者： S. Leppä M. Autio O. Brück S. Mustjoki J. Jørgensen M. Karjalainen-Lindsberg K. Beiske H. Holte T. Pellinen S. Leivonen Department of Oncology and Applied Tumor Genomics Research Program Helsinki University Hospital Comprehensive Cancer Centre and University of Helsinki Helsinki Finland Hematology Research Unit and Translational Immunology Research Program Helsinki University Hospital Comprehensive Cancer Centre and University of Helsinki Helsinki Finland Department of Hematology Aarhus University Hospital Aarhus Denmark Department of Pathology Helsinki University Hospital Helsinki Finland Department of Pathology Oslo University Hospital Oslo Norway Department of Oncology Oslo University Hospital Oslo Norway Systems Biomedicine Institute for Molecular Medicine Finland Helsinki Finland

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Estimates, trends, and drivers of the global burden of type 2 diabetes attributable to PM_2·5 air pollution, 1990–2019: an analysis of data from the Global Burden of Disease Study 2019

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The Lancet Planetary Health 2022年第7期6卷 e586-e600页

作者： Burkart, Katrin Causey, Kate Cohen, Aaron J Wozniak, Sarah S Salvi, Devashri Digvijay Abbafati, Cristiana Adekanmbi, Victor Adsuar, Jose C Ahmadi, Keivan Alahdab, Fares Al-Aly, Ziyad Alipour, Vahid Alvis-Guzman, Nelson Amegah, Adeladza Kofi Andrei, Catalina Liliana Andrei, Tudorel Ansari, Fereshteh Arabloo, Jalal Aremu, Olatunde Aripov, Timur Babaee, Ebrahim Banach, MacIej Barnett, Anthony Bärnighausen, Till Winfried Bedi, Neeraj Behzadifar, Masoud Béjot, Yannick Bennett, Derrick A Bensenor, Isabela M Bernstein, Robert S Bhattacharyya, Krittika Bijani, Ali Biondi, Antonio Bohlouli, Somayeh Breitner, Susanne Brenner, Hermann Butt, Zahid A Cámera, Luis Alberto Cantu-Brito, Carlos Carvalho, Felix Cerin, Ester Chattu, Vijay Kumar Chauhan, Bal Govind Choi, Jee-Young Jasmine Chu, Dinh-Toi Dai, Xiaochen Dandona, Lalit Dandona, Rakhi Daryani, Ahmad Davletov, Kairat De Courten, Barbora Demeke, Feleke Mekonnen Denova-Gutiérrez, Edgar Dharmaratne, Samath Dhamminda Dhimal, Meghnath Diaz, Daniel Djalalinia, Shirin Duncan, Bruce B El Sayed Zaki, Maysaa Eskandarieh, Sharareh Fareed, Mohammad Farzadfar, Farshad Fattahi, Nazir Fazlzadeh, Mehdi Fernandes, Eduarda Filip, Irina Fischer, Florian Foigt, Nataliya A Freitas, Marisa Ghashghaee, Ahmad Gill, Paramjit Singh Ginawi, Ibrahim Abdelmageed Gopalani, Sameer Vali Guo, Yuming Gupta, Rajat Das Habtewold, Tesfa Dejenie Hamadeh, Randah R Hamidi, Samer Hankey, Graeme J Hasanpoor, Edris Hassen, Hamid Yimam Hay, Simon I Heibati, Behzad Hole, Michael K Hossain, Naznin Househ, Mowafa Irvani, Seyed Sina Naghibi Jaafari, Jalil Jakovljevic, Mihajlo Jha, Ravi Prakash Jonas, Jost B Jozwiak, Jacek Jerzy Kasaeian, Amir Kaydi, Neda Khader, Yousef Saleh Khafaie, Morteza Abdullatif Khan, Ejaz Ahmad Khan, Junaid Khan, Md Nuruzzaman Khatab, Khaled Khater, Amir M Kim, Yun Jin Kimokoti, Ruth W Kisa, Adnan Kivimäki, Mika Knibbs, Luke D Kosen, Soewarta Koul, Parvaiz A Koyanagi, Ai Defo, Barthelemy Kuate Kugbey, Nuworza Lauriola, Paolo Lee, Paul H Leili, Mostafa Lewycka, Sonia Li, Shanshan Lim, Lee-Ling Li Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Division of Plastic and Reconstructive Surgery University of Washington Seattle WA United States Research Insights and Innovation Seattle WA United States Health Effects Institute Boston MA United States School of Public Health Boston University Boston MA United States Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Population Medicine Cardiff University Cardiff United Kingdom Sport Science Department University of Extremadura Badajoz Spain School of Public Health Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom Mayo Evidence-based Practice Center Mayo Clinic Foundation for Medical Education and Research Rochester MN United States John T. Milliken Department of Internal Medicine Washington University in St. Louis St. Louis MO United States Clinical Epidemiology Center US Department of Veterans Affairs (VA) St Louis MO United States Health Management and Economics Research Center Iran University of Medical Sciences Tehran Iran Department of Health Economics Iran University of Medical Sciences Tehran Iran Preventive Medicine and Public Health Research Center Iran University of Medical Sciences Tehran Iran Pars Advanced and Minimally Invasive Medical Manners Research Center Iran University of Medical Sciences Tehran Iran Department of Community and Family Medicine Iran University of Medical Sciences Tehran Iran Research Group in Hospital Management and Health Policies Universidad de la Costa (University of the Coast) Barranquilla Colombia Research Group in Health Economics University of Cartagena Cartagena Colombia Department of Biomedical Science University of Cape Coast Cape Coast Ghana Cardiology Department Ca

Background: Experimental and epidemiological studies indicate an association between exposure to particulate matter (PM) air pollution and increased risk of type 2 diabetes. In view of the high and increasing prevalence of diabetes, we aimed to quantify the burden of type 2 diabetes attributable to PM_2·5 originating from ambient and household air pollution. Methods: We systematically compiled all relevant cohort and case-control studies assessing the effect of exposure to household and ambient fine particulate matter (PM_2·5) air pollution on type 2 diabetes incidence and mortality. We derived an exposure–response curve from the extracted relative risk estimates using the MR-BRT (meta-regression—Bayesian, regularised, trimmed) tool. The estimated curve was linked to ambient and household PM_2·5 exposures from the Global Burden of Diseases, Injuries, and Risk Factors Study 2019, and estimates of the attributable burden (population attributable fractions and rates per 100 000 population of deaths and disability-adjusted life-years) for 204 countries from 1990 to 2019 were calculated. We also assessed the role of changes in exposure, population size, age, and type 2 diabetes incidence in the observed trend in PM_2·5-attributable type 2 diabetes burden. All estimates are presented with 95% uncertainty intervals. Findings: In 2019, approximately a fifth of the global burden of type 2 diabetes was attributable to PM_2·5 exposure, with an estimated 3·78 (95% uncertainty interval 2·68–4·83) deaths per 100 000 population and 167 (117–223) disability-adjusted life-years (DALYs) per 100 000 population. Approximately 13·4% (9·49–17·5) of deaths and 13·6% (9·73–17·9) of DALYs due to type 2 diabetes were contributed by ambient PM2·5, and 6·50% (4·22–9·53) of deaths and 5·92% (3·81–8·64) of DALYs by household air pollution. High burdens, in terms of numbers as well as rates, were estimated in Asia, sub-Saharan Africa, and South Am

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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Global, regional, and national incidence of six major immune-mediated inflammatory diseases: findings from the global burden of disease study 2019

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eClinicalMedicine 2023年 64卷 102193-102193页

作者： Wu, Dongze Jin, Yingzhao Xing, Yuhan Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abd-Allah, Foad Abdelmasseh, Michael Abdollahifar, Mohammad-Amin Abdulah, Deldar Morad Abedi, Aidin Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abuabara, Katrina Abyadeh, Morteza Addo, Isaac Yeboah Adeniji, Kayode Nelson Adepoju, Abiola Victor Adesina, Miracle Ayomikun Adnani, Qorinah Estiningtyas Sakilah Afarideh, Mohsen Aghamiri, Shahin Agodi, Antonella Agrawal, Anurag Arriagada, Constanza Elizabeth Aguilera Ahmad, Aqeel Ahmad, Danish Ahmad, Sohail Ahmadi, Ali Ahmed, Ayman Aithala, Janardhana P. Ajadi, Abdullateef Abiodun Ajami, Marjan Akbarzadeh-Khiavi, Mostafa Alahdab, Fares AlBataineh, Mohammad T. Alemi, Sharifullah Al-Gheethi, Adel Ali Saeed Ali, Liaqat Alif, Sheikh Mohammad Almazan, Joseph Uy Almustanyir, Sami Alqahtani, Jaber S. Alqasmi, Ibrahim Altaf, Ihsan Ullah Khan Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Al-Worafi, Yaser Mohammed Aly, Hany Amani, Reza Amu, Hubert Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Ansar, Adnan Ansariniya, Hossein Anyasodor, Anayochukwu Edward Arabloo, Jalal Arefnezhad, Reza Arulappan, Judie Asghari-Jafarabadi, Mohammad Ashraf, Tahira Atata, Jamila Abdulhamid Athari, Seyyed Shamsadin Atlaw, Daniel Atout, Maha Moh'd Wahbi Aujayeb, Avinash Awan, Asma Tahir Ayatollahi, Haleh Azadnajafabad, Sina Azzam, Ahmed Y. Badawi, Alaa Badiye, Ashish D. Bagherieh, Sara Baig, Atif Amin Bantie, Berihun Bantie Barchitta, Martina Bardhan, Mainak Barker-Collo, Suzanne Lyn Barone-Adesi, Francesco Batra, Kavita Bayileyegn, Nebiyou Simegnew Behnoush, Amir Hossein Belgaumi, Uzma Iqbal Bemanalizadeh, Maryam Bensenor, Isabela M. Beyene, Kebede A. Bhagavathula, Akshaya Srikanth Bhardwaj, Pankaj Bhaskar, Sonu Bhat, Ajay Nagesh Bitaraf, Saeid Bitra, Veera R. Boloor, Archith Bora, Kaustubh Botelho, João Silva Buchbinder, Rachelle Calina, Daniela Cámera, Luis Alberto Carvalho, Andre F. Chan, Jeffrey Shi Kai Chattu, Vijay Kumar Abebe, Endeshaw Chekol Department of Rheumatology and Immunology Sichuan Provincial People's Hospital School of Medicine University of Electronic Science and Technology of China China Department of Medicine & Therapeutics The Chinese University of Hong Kong Hong Kong Department of Paediatrics The Chinese University of Hong Kong Hong Kong School of Pharmacy The Chinese University of Hong Kong Hong Kong Jockey Club School of Public Health and Primary Care The Chinese University of Hong Kong Hong Kong Department of Nursing Woldia University Woldia Ethiopia Department of Orthopedic Surgery Harvard University Boston MA United States Postgraduate Medical Education Harvard University Boston MA United States Maternal Fetal Care Center Harvard University Boston MA United States Department of Health Policy and Oral Epidemiology Harvard University Boston MA United States Division of General Internal Medicine Harvard University Boston MA United States Department of Orthopaedic Surgery Shahid Beheshti University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Biotechnology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran National Nutrition and Food Technology Research Institute Shahid Beheshti University of Medical Sciences Tehran Iran Department of Immunology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Medical Genetics Shahid Beheshti University of Medical Sciences Tehran Iran Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences Tehran Iran Cancer Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Functional Neuro

Background: The causes for immune-mediated inflammatory diseases (IMIDs) are diverse and the incidence trends of IMIDs from specific causes are rarely studied. The study aims to investigate the pattern and trend of IMIDs from 1990 to 2019. Methods: We collected detailed information on six major causes of IMIDs, including asthma, inflammatory bowel disease, multiple sclerosis, rheumatoid arthritis, psoriasis, and atopic dermatitis, between 1990 and 2019, derived from the Global Burden of Disease study in 2019. The average annual percent change (AAPC) in number of incidents and age standardized incidence rate (ASR) on IMIDs, by sex, age, region, and causes, were calculated to quantify the temporal trends. Findings: In 2019, rheumatoid arthritis, atopic dermatitis, asthma, multiple sclerosis, psoriasis, inflammatory bowel disease accounted 1.59%, 36.17%, 54.71%, 0.09%, 6.84%, 0.60% of overall new IMIDs cases, respectively. The ASR of IMIDs showed substantial regional and global variation with the highest in High SDI region, High-income North America, and united States of America. Throughout human lifespan, the age distribution of incident cases from six IMIDs was quite different. Globally, incident cases of IMIDs increased with an AAPC of 0.68 and the ASR decreased with an AAPC of −0.34 from 1990 to 2019. The incident cases increased across six IMIDs, the ASR of rheumatoid arthritis increased (0.21, 95% CI 0.18, 0.25), while the ASR of asthma (AAPC = −0.41), inflammatory bowel disease (AAPC = −0.72), multiple sclerosis (AAPC = −0.26), psoriasis (AAPC = −0.77), and atopic dermatitis (AAPC = −0.15) decreased. The ASR of overall and six individual IMID increased with SDI at regional and global level. Countries with higher ASR in 1990 experienced a more rapid decrease in ASR. Interpretation: The incidence patterns of IMIDs varied considerably across the world. Innovative prevention and integrative management strategy are urgently needed to mitigate the increasing ASR of rh

关键词： Global burden of disease study Immune-mediated inflammatory disease Incidence Trend

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Mapping geographical inequalities in childhood diarrhoeal morbidity and mortality in low-income and middle-income countries, 2000-17: analysis for the Global Burden of Disease Study 2017 (vol 395, pg 1779, 2020)

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LANCET 2020年第10239期395卷 1762-1762页

作者： Reiner, R. C., Jr. Hay, S., I Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Global Health School of Medicine University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States College of Health and Medical Sciences Haramaya University Harar Ethiopia Department of Epidemiology and Biostatistics Haramaya University Harar Ethiopia Department of Medical Laboratory Sciences Haramaya University Harar Ethiopia School of Nursing and Midwifery Haramaya University Harar Ethiopia School of Pharmacy Haramaya University Harar Ethiopia School of Public Health Haramaya University Harar Ethiopia Haramaya University Harar Ethiopia Advanced Diagnostic and Interventional Radiology Research Center Tehran University of Medical Sciences Tehran Iran Cancer Biology Research Center Tehran University of Medical Sciences Tehran Iran Cancer Research Institute Tehran University of Medical Sciences Tehran Iran Department of Economics and Management Sciences for Health Tehran University of Medical Sciences Tehran Iran Department of Environmental Health Engineering Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Department of Health Management and Economics Tehran University of Medical Sciences Tehran Iran Department of Microbiology Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Endocrinology and Metabolism Research Center Tehran University of Medical Sciences Tehran Iran Hematology-Oncology and Stem Cell Transplantation Research Center Tehran University of Medical Sciences Tehran Iran Iran National Institute of Health Research Tehran University of Medical Sciences Tehran Iran Metabolomics and

Summary Background Across low-income and middle-income countries (LMICs), one in ten deaths in children younger than 5 years is attributable to diarrhoea. The substantial between-country variation in both diarrhoea incidence and mortality is attributable to interventions that protect children, prevent infection, and treat disease. Identifying subnational regions with the highest burden and mapping associated risk factors can aid in reducing preventable childhood *** We used Bayesian model-based geostatistics and a geolocated dataset comprising 15 072 746 children younger than 5 years from 466 surveys in 94 LMICs, in combination with findings of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017, to estimate posterior distributions of diarrhoea prevalence, incidence, and mortality from 2000 to 2017. From these data, we estimated the burden of diarrhoea at varying subnational levels (termed units) by spatially aggregating draws, and we investigated the drivers of subnational patterns by creating aggregated risk factor *** The greatest declines in diarrhoeal mortality were seen in south and southeast Asia and South America, where 54·0% (95% uncertainty interval [UI] 38·1-65·8), 17·4% (7·7-28·4), and 59·5% (34·2-86·9) of units, respectively, recorded decreases in deaths from diarrhoea greater than 10%. Although children in much of Africa remain at high risk of death due to diarrhoea, regions with the most deaths were outside Africa, with the highest mortality units located in Pakistan. Indonesia showed the greatest within-country geographical inequality; some regions had mortality rates nearly four times the average country rate. Reductions in mortality were correlated to improvements in water, sanitation, and hygiene (WASH) or reductions in child growth failure (CGF). Similarly, most high-risk areas had poor WASH, high CGF, or low oral rehydration therapy *** By co-analysing geospatial trends in d

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Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study (vol 2, pg 144, 2021)

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LANCET GLOBAL HEALTH 2021年第4期9卷 E408-E408页

作者： Steinmetz, Jaimie D. Vision and Eye Research Institute Anglia Ruskin University Cambridge United Kingdom Biomedical Informatics Seoul National University Hospital Seoul South Korea Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Institute of Health Services Research Yonsei University Seoul South Korea Department of Ophthalmology University of Washington Seattle WA United States Department of Mathematics Imperial College London London United Kingdom WHO Collaborating Centre for Public Health Education and Training Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom School of Population and Global Health University of Melbourne Carlton VIC Australia School of Optometry and Vision Science UNSW Sydney NSW Australia Brien Holden Vision Institute Sydney Australia Department of Ophthalmology University of Adelaide Adelaide SA Australia Department of Parasitology and Mycology Jahrom University of Medical Sciences Jahrom Iran Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Ophthalmic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Ophthalmology Shahid Beheshti University of Medical Sciences Tehran Iran Research Institute for Endocrine Sciences Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic Epidemiology Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Health Services Management Department Qazvin University of Medical Sciences Qazvin Iran Department of Systems Populations and Leadership University of Michigan Ann Arbor MI United States Department of Medicine Sofia Ismail Memorial Medical Centre Bogura Bangladesh The Fred Hollows Foundation Sydney NSW Australia Berhan Public Health & Eye Care Consultancy Addis A

Hospital El Salvador: a novel paradigm of intensive care in response to COVID-19 in central America. Lancet Glob Health 2021;9: e241?42?In this Comment, the conflict of interest statement should have included the following: ?By virtue of their roles within a public hospital or the Ministry of Health, MB, LC, WH, and XS are government employees. The findings and conclusions in the Comment are only those of the authors.? This correction has been made as of Feb 26, 2021.

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Author Correction: Advances and prospects for the Human BioMolecular Atlas program (HuBMAP)

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Nature cell biology 2024年第5期26卷 839页

作者： Sanjay Jain Liming Pei Jeffrey M Spraggins Michael Angelo James P Carson Nils Gehlenborg Fiona Ginty Joana P Gonçalves James S Hagood John W Hickey Neil L Kelleher Louise C Laurent Shin Lin Yiing Lin Huiping Liu Alexandra Naba Ernesto S Nakayasu Wei-Jun Qian Andrea Radtke Paul Robson Brent R Stockwell Raf Van de Plas Ioannis S Vlachos Mowei Zhou Katy Börner Michael P Snyder Department of Medicine Washington University School of Medicine St Louis MO USA. sanjayjain@wustl.edu. Department of Pediatrics Washington University School of Medicine St Louis MO USA. sanjayjain@wustl.edu. Department of Pathology and Immunology Washington University School of Medicine St. Louis MO USA. sanjayjain@wustl.edu. Center for Mitochondrial and Epigenomic Medicine Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia and Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. lpei@pennmedicine.upenn.edu. Department of Cell and Developmental Biology and the Mass Spectrometry Research Center Vanderbilt University School of Medicine Nashville TN USA. jeff.spraggins@vanderbilt.edu. Department of Pathology Stanford School of Medicine Stanford CA USA. Texas Advanced Computing Center University of Texas at Austin Austin TX USA. Department of Biomedical Informatics Harvard Medical School Boston MA USA. GE Research Center Niskayuna NY USA. Department of Intelligent Systems Delft University of Technology Delft Netherlands. Department of Pediatrics (Pulmonology) and Program for Rare and Interstitial Lung Disease University of North Carolina at Chapel Hill Chapel Hill NC USA. Department of Microbiology and Immunology Stanford University Stanford CA USA. Departments of Medicine Chemistry and Molecular Biosciences Northwestern University Evanston IL USA. Department of Obstetrics Gynecology and Reproductive Sciences University of California San Diego La Jolla CA USA. Division of Cardiology University of Washington School of Medicine Seattle WA USA. Department of Surgery Washington University School of Medicine St Louis MO USA. Departments of Pharmacology Medicine (Hematology and Oncology) Lurie Cancer Center Northwestern University Feinberg School of Medicine Chicago IL USA. Department of Physiology and Biophysics University of Illinois at Chicago Chicago IL USA. Biological Sciences Division

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Genome-wide association study of long COVID

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Nature genetics 2025年 2025 May 21页

作者： Vilma Lammi Tomoko Nakanishi Samuel E Jones Shea J Andrews Juha Karjalainen Beatriz Cortés Heath E O'Brien Ana Ochoa-Guzman Brian E Fulton-Howard Martin Broberg Hele H Haapaniemi Masahiro Kanai Matti Pirinen Axel Schmidt Ruth E Mitchell Abdou Mousas Massimo Mangino Alicia Huerta-Chagoya Nasa Sinnott-Armstrong Elizabeth T Cirulli Marc Vaudel Alex S F Kwong Amit K Maiti Minttu M Marttila Daniel C Posner Alexis A Rodriguez Chiara Batini Francesca Minnai Anna R Dearman C A Robert Warmerdam Celia B Sequeros Thomas W Winkler Daniel M Jordan Raimonds Rešcenko Lorenzo Miano Jacqueline M Lane Ryan K Chung Beatriz Guillen-Guio Olivia C Leavy Laura Carvajal-Silva Kevin Aguilar-Valdés Erika Frangione Lindsay Guare Ekaterina Vergasova Eirini Marouli Pasquale Striano Ummu Afeera Zainulabid Ashutosh Kumar Hajar Fauzan Ahmad Ryuya Edahiro Shuhei Azekawa Shiuh-Wen Luoh Christian Erikstrup Ole B V Pedersen Jordan Lerner-Ellis Alicia Colombo Joseph J Grzymski Makoto Ishii Yukinori Okada Noam D Beckmann Meena Kumari Ralf Wagner Iris M Heid Catherine John Patrick J Short Per Magnus Laura Ansone Luca V C Valenti Sulggi A Lee Louise V Wain Ricardo A Verdugo Karina Banasik Frank Geller Lude H Franke Alexander Rakitko Emma L Duncan Alessandra Renieri Konstantinos K Tsilidis Rafael de Cid Ahmadreza Niavarani Erik Abner Teresa Tusié-Luna Shefali S Verma George Davey Smith Nicholas J Timpson Ravi K Madduri Kelly Cho Mark J Daly Andrea Ganna Eva C Schulte J Brent Richards Kerstin U Ludwig Michael Marks-Hultström Hugo Zeberg Hanna M Ollila Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland. Department of Human Genetics McGill University Montreal Quebec Canada. Centre for Clinical Epidemiology Department of Medicine Lady Davis Institute Jewish General Hospital McGill University Montreal Quebec Canada. Kyoto-McGill International Collaborative Program in Genomic Medicine Graduate School of Medicine Kyoto University Kyoto Japan. Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan. Research Fellow Japan Society for the Promotion of Science Tokyo Japan. Department of Psychiatry and Behavioral Sciences University of California San Francisco San Francisco CA USA. Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA. Genomes for Life-GCAT Lab CORE Program Germans Trias i Pujol Research Institute (IGTP) Badalona Spain. Grup de REcerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) Barcelona Spain. Sano Genetics Limited London UK. Unidad de Biología Molecular y Medicina Genómica Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico. Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York City NY USA. Broad Institute Cambridge MA USA. Analytical and Translational Genetics Unit Massachusetts General Hospital Harvard Medical School Boston MA USA. Department of Mathematics and Statistics University of Helsinki Helsinki Finland. Department of Public Health University of Helsinki Helsinki Finland. Institute of Human Genetics University of Bonn School of Medicine and University Hospital Bonn Bonn Germany. MRC Integrative Epidemiology Unit University of Bristol Bristol

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association of FOXP4 with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4's role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID.

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