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State of the art in selection of variables and functional forms in multivariable analysis-outstanding issues

Diagnostic and prognostic research 2020年第1期4卷 3页

作者： Willi Sauerbrei Aris Perperoglou Matthias Schmid Michal Abrahamowicz Heiko Becher Harald Binder Daniela Dunkler Frank E Harrell Patrick Royston Georg Heinze 1Institute of Medical Biometry and Statistics Faculty of Medicine and Medical Center University of Freiburg Freiburg Germany. Data Science and Artificial Intelligence AstraZeneca Cambridge UK. 3Department of Medical Biometry Informatics and Epidemiology Faculty of Medicine University of Bonn Bonn Germany. 4McGill University Health Centre McGill University Montreal Canada. 5Institute for Medical Biometry and Epidemiology University Medical Center Hamburg-Eppendorf Hamburg Germany. 6Section for Clinical Biometrics Center for Medical Statistics Informatics and Intelligent Systems Medical University of Vienna Vienna Austria. 7Department of Biostatistics School of Medicine Vanderbilt University Nashville TN USA. 8MRC Clinical Trials Unit at UCL Institute of Clinical Trials and Methodology University College London London UK.

BACKGROUND:How to select variables and identify functional forms for continuous variables is a key concern when creating a multivariable model. Ad hoc 'traditional' approaches to variable selection have been in use for at least 50 years. Similarly, methods for determining functional forms for continuous variables were first suggested many years ago. More recently, many alternative approaches to address these two challenges have been proposed, but knowledge of their properties and meaningful comparisons between them are scarce. To define a state of the art and to provide evidence-supported guidance to researchers who have only a basic level of statistical knowledge, many outstanding issues in multivariable modelling remain. Our main aims are to identify and illustrate such gaps in the literature and present them at a moderate technical level to the wide community of practitioners, researchers and students of statistics. METHODS:We briefly discuss general issues in building descriptive regression models, strategies for variable selection, different ways of choosing functional forms for continuous variables and methods for combining the selection of variables and functions. We discuss two examples, taken from the medical literature, to illustrate problems in the practice of modelling. RESULTS:Our overview revealed that there is not yet enough evidence on which to base recommendations for the selection of variables and functional forms in multivariable analysis. Such evidence may come from comparisons between alternative methods. In particular, we highlight seven important topics that require further investigation and make suggestions for the direction of further research. CONCLUSIONS:Selection of variables and of functional forms are important topics in multivariable analysis. To define a state of the art and to provide evidence-supported guidance to researchers who have only a basic level of statistical knowledge, further comparative research is required.

关键词： Bias Categorisation Descriptive modelling Empirical evidence Fractional polynomials Methods for variable selection STRATOS initiative Shrinkage Spline procedures

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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

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

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

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

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The Brain Tumor Segmentation (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI

arXiv

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arXiv 2023年

作者： Moawad, Ahmed W. Janas, Anastasia Baid, Ujjwal Ramakrishnan, Divya Saluja, Rachit Ashraf, Nader Jekel, Leon Amiruddin, Raisa Adewole, Maruf Albrecht, Jake Anazodo, Udunna Aneja, Sanjay Anwar, Syed Muhammad Bergquist, Timothy Calabrese, Evan Chiang, Veronica Chung, Verena Conte, Gian Marco Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Iglesias, Juan Eugenio Jiang, Zhifan Johanson, Elaine Kazerooni, Anahita Fathi Kofler, Florian Krantchev, Kiril LaBella, Dominic Van Leemput, Koen Li, Hongwei Bran Linguraru, Marius George Link, Katherine E. Liu, Xinyang Maleki, Nazanin Meier, Zeke Menze, Bjoern H. Moy, Harrison Osenberg, Klara Piraud, Marie Reitman, Zachary Shinohara, Russel Takeshi Tahon, Nourel hoda Nada, Ayman Velichko, Yuri S. Wang, Chunhao Wiestler, Benedikt Wiggins, Walter Shafique, Umber Willms, Klara Avesta, Arman Bousabarah, Khaled Chakrabarty, Satrajit Gennaro, Nicolo Holler, Wolfgang Kaur, Manpreet LaMontagne, Pamela Lin, MingDe Lost, Jan Marcus, Daniel S. Maresca, Ryan Merkaj, Sarah Nada, Ayaman Pedersen, Gabriel Cassinelli von Reppert, Marc Sotiras, Aristeidis Teytelboym, Oleg Tillmans, Niklas Westerhoff, Malte Youssef, Ayda Godfrey, Devon Floyd, Scott Rauschecker, Andreas Villanueva-Meyer, Javier Pflüger, Irada Cho, Jaeyoung Bendszus, Martin Brugnara, Gianluca Cramer, Justin Perez-Carillo, Gloria Guzman J. Johnson, Derek R. Kam, Anthony Kwan, Benjamin Yin Ming Lai, Lillian Lall, Neil U. Memon, Fatima Patro, Satya Narayana Petrovic, Bojan So, Tiffany Y. Thompson, Gerard Wu, Lei Schrickel, E. Brooke Bansal, Anu Barkhof, Frederik Besada, Cristina Chu, Sammy Druzgal, Jason Dusoi, Alexandru Farage, Luciano Feltrin, Fabricio Fong, Amy Fung, Steve H. Gray, R. Ian Ikuta, Ichiro Iv, Michael Postma, Alida A. Mahajan, Amit Joyner, David Krumpelman, Chase Letourneau-Guillon, Laurent Lincoln, Christie M. Maros, Mate E. Miller, Elka Morón, Fanny Nimchinsky, Esther A. Ozsarlak, Ozkan Patel, Uresh Rohatgi, Saurabh Saha, Atin Sayah, Anousheh Schwartz, Eric D. Shih, Robert Shiroishi, Mark Trinity health Mid Atlantic Hosiptals DarbyPA United States Department of Radiology and Biomedical Imaging Yale School of Medicine New HavenCT United States Division of Computational Pathology Department of Pathology and Laboratory Medicine School of Medicine Indiana University IndianapolisIN United States Department of Electical and Computer Engineering Cornell University Cornell Tech New YorkNY United States Department of Radiology Weill Cornell Medicine New YorkNY United States ImagineQuant Children’s Hospital of Philadelphia PhiladelphiaPA United States College of Medicine Alfaisal University Riyadh Saudi Arabia DKFZ Division of Translational Neurooncology The WTZ German Cancer Consortium DKTK Partner Site University Hospital Essen Essen Germany Medical Artificial Intelligence Lab Crestview Radiology Lagos Nigeria Sage Bionetworks SeattleWA United States Montreal Neurological Institute McGill University Montreal Canada lab Crestview Radiology Lagos Nigeria Department of Therapeutic Radiology Yale School of Medicine New HavenCT United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Radiology Mayo Clinic RochesterMN United States Department of Radiology Duke University Medical Center DurhamNC United States Department of Neurosurgery Yale School of Medicine New HavenCT United States Center for Global Health Perelman School of Medicine University of Pennsylvania PA United States Department of Informatics Technical University Munich Germany Children’s Hospital of Philadelphia University of Pennsylvania PhiladelphiaPA United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Children’s National Hospital WashingtonDC United States PrecisionFDA U.S. Food and Drug Administration S

The translation of AI-generated brain metastases (BM) segmentation into clinical practice relies heavily on diverse, high-quality annotated medical imaging datasets. The BraTS-METS 2023 challenge has gained momentum for testing and benchmarking algorithms using rigorously annotated internationally compiled real-world datasets. This study presents the results of the segmentation challenge and characterizes the challenging cases that impacted the performance of the winning algorithms. Untreated brain metastases on standard anatomic MRI sequences (T1, T2, FLAIR, T1PG) from eight contributed international datasets were annotated in stepwise method: published UNET algorithms, student, neuroradiologist, final approver neuroradiologist. Segmentations were ranked based on lesion-wise Dice and Hausdorff distance (HD95) scores. False positives (FP) and false negatives (FN) were rigorously penalized, receiving a score of 0 for Dice and a fixed penalty of 374 for HD95. The mean scores for the teams were calculated. Eight datasets comprising 1303 studies were annotated, with 402 studies (3076 lesions) released on Synapse as publicly available datasets to challenge competitors. Additionally, 31 studies (139 lesions) were held out for validation, and 59 studies (218 lesions) were used for testing. Segmentation accuracy was measured as rank across subjects, with the winning team achieving a LesionWise mean score of 7.9. The Dice score for the winning team was 0.65 ± 0.25. Common errors among the leading teams included false negatives for small lesions and misregistration of masks in space. The Dice scores and lesion detection rates of all algorithms diminished with decreasing tumor size, particularly for tumors smaller than 100 mm3. In conclusion, algorithms for BM segmentation require further refinement to balance high sensitivity in lesion detection with the minimization of false positives and negatives. The BraTS-METS 2023 challenge successfully curated well-annotated, diverse d

关键词： Image segmentation

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Brain Tumor Segmentation (BraTS) Challenge 2024: Meningioma Radiotherapy Planning Automated Segmentation

arXiv

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arXiv 2024年

作者： LaBella, Dominic Schumacher, Katherine Mix, Michael Leu, Kevin McBurney-Lin, Shan Nedelec, Pierre Villanueva-Meyer, Javier Shapey, Jonathan Vercauteren, Tom Chia, Kazumi Ivory, Marina Barfoot, Theodore Al-Salihi, Omar Leu, Justin Halasz, Lia Velichko, Yury Wang, Chunhao Kirkpatrick, John Floyd, Scott Reitman, Zachary J. Mullikin, Trey Bagci, Ulas Sachdev, Sean Hattangadi-Gluth, Jona A. Seibert, Tyler M. Farid, Nikdokht Puett, Connor Pease, Matthew W. Shiue, Kevin Anwar, Syed Muhammad Faghani, Shahriar Taylor, Peter Haider, Muhammad Ammar Warman, Pranav Albrecht, Jake Jakab, András Moassefi, Mana Chung, Verena Aristizabal, Alejandro Karargyris, Alexandros Kassem, Hasan Pati, Sarthak Sheller, Micah Coley, Aaron Huang, Christina Ghanta, Siddharth Schneider, Alex Sharp, Conrad Saluja, Rachit Kofler, Florian Lohmann, Philipp Vollmuth, Phillipp Gagnon, Louis Adewole, Maruf Li, Hongwei Bran Kazerooni, Anahita Fathi Tahon, Nourel Hoda Anazodo, Udunna Moawad, Ahmed W. Menze, Bjoern Linguraru, Marius George Aboian, Mariam Wiestler, Benedikt Baid, Ujjwal Conte, Gian-Marco Rauschecker, Andreas M. Nada, Ayman Abayazeed, Aly H. Huang, Raymond de Verdier, Maria Correia Rudie, Jeffrey D. Bakas, Spyridon Calabrese, Evan Department of Radiation Oncology Duke University Medical Center DurhamNC United States Department of Radiation Oncology SUNY Upstate Medical University SyracuseNY United States San FranciscoCA United States Department of Neurosurgery King’s College Hospital London United Kingdom School of Biomedical Engineering and Imaging Sciences King’s College London London United Kingdom Guy’s and St Thomas’ NHS Foundation Trust United Kingdom Department of Radiation Oncology University of Washington SeattleWA United States Department of Radiology Northwestern University EvanstonIL United States Department of Radiation Oncology Northwestern University EvanstonIL United States Department of Radiation Medicine and Applied Sciences University of California San Diego La Jolla CA United States Department of Radiology University of California San Diego La Jolla CA United States Department of Bioengineering University of California San Diego La Jolla CA United States Department of Neurological Surgery Indiana University School of Medicine IndianapolisIN United States Department of Radiation Oncology Indiana University IndianapolisIN United States Children’s National Hospital WashingtonDC United States George Washington University WashingtonDC United States Mayo Clinic RochesterMN United States CMH Lahore Medical College Lahore Pakistan Duke University Medical Center School of Medicine DurhamNC United States Sage Bionetworks United States University of Zürich Zürich Switzerland Artificial Intelligence Lab Department of Radiology Mayo Clinic RochesterMN United States MLCommons United States Factored AI United States Center For Federated Learning in Medicine Indiana University IndianapolisIN United States Division of Computational Pathology Department of Pathology and Laboratory Medicine Indiana University School of Medicine IndianapolisIN United States Medical Working Group MLCommons San FranciscoCA United States Intel United States Duke Universi

The 2024 Brain Tumor Segmentation Meningioma Radiotherapy (BraTS-MEN-RT) challenge aims to advance automated segmentation algorithms using the largest known multi-institutional dataset of 750 radiotherapy planning brain MRIs with expert-annotated target labels for patients with intact or postoperative meningioma that underwent either conventional external beam radiotherapy or stereotactic radiosurgery. Each case includes a defaced 3D post-contrast T1-weighted radiotherapy planning MRI in its native acquisition space, accompanied by a single-label "target volume" representing the gross tumor volume (GTV) and any at-risk postoperative site. Target volume annotations adhere to established radiotherapy planning protocols, ensuring consistency across cases and institutions. For preoperative meningiomas, the target volume encompasses the entire GTV and associated nodular dural tail, while for postoperative cases, it includes at-risk resection cavity margins as determined by the treating institution. Case annotations were reviewed and approved by expert neuroradiologists and radiation oncologists. Participating teams will develop, containerize, and evaluate automated segmentation models using this comprehensive dataset. Model performance will be assessed using an adapted lesion-wise Dice Similarity Coefficient and the 95% Hausdorff distance. The top-performing teams will be recognized at the Medical Image Computing and Computer Assisted Intervention Conference in October 2024. BraTS-MEN-RT is expected to significantly advance automated radiotherapy planning by enabling precise tumor segmentation and facilitating tailored treatment, ultimately improving patient outcomes. © 2024, CC BY.

关键词： Radiotherapy

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Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

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The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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

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

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

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V-LoTSS: The Circularly-Polarised LOFAR Two-metre Sky Survey

arXiv

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arXiv 2022年

作者： Callingham, J.R. Shimwell, T.W. Vedantham, H.K. Bassa, C.G. O’Sullivan, S.P. Yiu, T.W.H. Bloot, S. Best, P.N. Hardcastle, M.J. Haverkorn, M. Kavanagh, R.D. Lamy, L. Pope, B.J.S. Röttgering, H.J.A. Schwarz, D.J. Tasse, C. van Weeren, R.J. White, G.J. Zarka, P. Bomans, D.J. Bonafede, A. Bonato, M. Botteon, A. Bruggen, M. Chyży, K.T. Drabent, A. Emig, K.L. Gloudemans, A.J. Gürkan, G. Hajduk, M. Hoang, D.N. Hoeft, M. Iacobelli, M. Kadler, M. Kunert-Bajraszewska, M. Mingo, B. Morabito, L.K. Nair, D.G. Pérez-Torres, M. Ray, T.P. Riseley, C.J. Rowlinson, A. Shulevski, A. Sweijen, F. Timmerman, R. Vaccari, M. Zheng, J. Leiden Observatory Leiden University PO Box 9513 Leiden2300 RA Netherlands ASTRON Netherlands Institute for Radio Astronomy Oude Hoogeveensedijk 4 Dwingeloo7991 PD Netherlands Kapteyn Astronomical Institute University of Groningen PO Box 800 Groningen9700 AV Netherlands School of Physical Sciences Centre for Astrophysics & Relativity Dublin City University GlasnevinD09 W6Y4 Ireland Institute for Astronomy University of Edinburgh Royal Observatory Blackford Hill EdinburghEH9 3HJ United Kingdom Centre for Astrophysics Research Department of Physics Astronomy and Mathematics University of Hertfordshire College Lane HatfieldAL10 9AB United Kingdom Department of Astrophysics IMAPP Radboud University PO Box 9010 Nijmegen6500 GL Netherlands LESIA Observatoire de Paris Université PSL CNRS Sorbonne Université Université de Paris 5 Place Jules Janssen Meudon92195 France Aix Marseille Université CNRS CNES LAM 38 Rue Frédéric Joliot Curie Marseille13013 France School of Mathematics and Physics The University of Queensland St LuciaQLD4072 Australia Centre for Astrophysics University of Southern Queensland West Street ToowoombaQLD4350 Australia Fakultät für Physik Universität Bielefeld Postfach 100131 Bielefeld33501 Germany GEPI & ORN Observatoire de Paris Université PSL CNRS 5 Place Jules Janssen Meudon92190 France Department of Physics & Electronics Rhodes University PO Box 94 Grahamstown6140 South Africa School for Physical Sciences The Open University Milton KeynesMK11 9DL United Kingdom Space Science and Technology Division RALSpace STFC Rutherford Appleton Laboratory Chilton DidcotOX11 0NX United Kingdom ORN Observatoire de Paris CNRS PSL Université d’Orléans Nançay France Faculty of Physics and Astronomy Astronomical Institute Universitätsstr. 150 Bochum44801 Germany Universitá di Bologna via Gobetti 93/2 Bologna40129 Italy via Gobetti 101 Bologna40129 Italy Hamburger Sternwarte Universität Hamburg Goje

We present the detection of 68 sources from the most sensitive radio survey in circular polarisation conducted to date. We use the second data release of the 144 MHz LOFAR Two-metre Sky Survey to produce circularly-polarised maps with median 140 µJy beam−1 noise and resolution of 2000 for ≈27% of the northern sky (5634 deg2). The leakage of total intensity into circular polarisation is measured to be ≈ 0.06%, and our survey is complete at flux densities ≥ 1 mJy. A detection is considered reliable when the circularly-polarised fraction exceeds 1%. We find the population of circularly-polarised sources is composed of four distinct classes: stellar systems, pulsars, active galactic nuclei, and sources unidentified in the literature. The stellar systems can be further separated into chromospherically-active stars, M dwarfs, and brown dwarfs. Based on the circularly-polarised fraction and lack of an optical counterpart, we show it is possible to infer whether the unidentified sources are likely unknown pulsars or brown dwarfs. By the completion of this survey of the northern sky, we expect to detect 300±100 circularly-polarised sources. © 2022, CC BY.

关键词： Polarization

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology (vol 13, 634, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-13页

作者： Bjornsdottir, Gyda Stefansdottir, Lilja Thorleifsson, Gudmar Sulem, Patrick Norland, Kristjan Ferkingstad, Egil Oddsson, Asmundur Zink, Florian Lund, Sigrun H. Nawaz, Muhammad S. Walters, G. Bragi Skuladottir, Astros Th. Gudjonsson, Sigurjon A. Einarsson, Gudmundur Halldorsson, Gisli H. Bjarnadottir, Valgerdur Sveinbjornsson, Gardar Helgadottir, Anna Styrkarsdottir, Unnur Gudmundsson, Larus J. Pedersen, Ole B. Hansen, Thomas Folkmann Werge, Thomas Banasik, Karina Troelsen, Anders Skou, Soren T. Thorner, Lise Wegner Erikstrup, Christian Nielsen, Kaspar Rene Mikkelsen, Susan Jonsdottir, Ingileif Bjornsson, Aron Olafsson, Ingvar H. Ulfarsson, Elfar Blondal, Josep Vikingsson, Arnor Brunak, Soren Ostrowski, Sisse R. Ullum, Henrik Thorsteinsdottir, Unnur Stefansson, Hreinn Gudbjartsson, Daniel F. Thorgeirsson, Thorgeir E. Stefansson, Kari deCODE Genetics/Amgen Inc. Reykjavik Iceland (GRID:grid.421812.c) (ISNI:0000 0004 0618 6889) deCODE Genetics/Amgen Inc. Reykjavik Iceland (GRID:grid.421812.c) (ISNI:0000 0004 0618 6889) University of Iceland Faculty of Medicine School of Health Sciences Reykjavik Iceland (GRID:grid.14013.37) (ISNI:0000 0004 0640 0021) deCODE Genetics/Amgen Inc. Reykjavik Iceland (GRID:grid.421812.c) (ISNI:0000 0004 0618 6889) University of Iceland School of Engineering and Natural Sciences Reykjavik Iceland (GRID:grid.14013.37) (ISNI:0000 0004 0640 0021) Landspitali University Hospital Reykjavik Iceland (GRID:grid.410540.4) (ISNI:0000 0000 9894 0842) Zealand University Hospital Department of Clinical Immunology Køge Denmark (GRID:grid.512923.e) (ISNI:0000 0004 7402 8188) University of Copenhagen Department of Clinical Medicine Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) Rigshospitalet-Glostrup Danish Headache Center Dept. Neurology Glostrup Denmark (GRID:grid.475435.4) University of Copenhagen Novo Nordisk Foundation Center for Protein Research Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) University of Copenhagen Department of Clinical Medicine Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) Copenhagen University Hospital Institute of Biological Psychiatry Mental Health Services Copenhagen Denmark (GRID:grid.4973.9) (ISNI:0000 0004 0646 7373) University of Copenhagen Lundbeck Foundation for GeoGenetics GLOBE Institute Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) University of Copenhagen Novo Nordisk Foundation Center for Protein Research Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) University of Copenhagen Department of Clinical Medicine Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory *** is known about the biology of back pain, a leading cause of disability. Here the authors report 30 new back pain loci, implicating genes involved in cartilage/bone biology, as well as neurological and inflammatory processes.

关键词： Bone Genome-wide association studies Pain

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