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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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Correction to: The potential use of tideglusib as an adjuvant radio-therapeutic treatment for glioblastoma multiforme cancer stem-like cells

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Pharmacological reports : PR 2021年第1期73卷 316页

作者： Jolie Bou-Gharios Sahar Assi Hisham F Bahmad Hussein Kharroubi Tarek Araji Reda M Chalhoub Farah Ballout Hayat Harati Youssef Fares Wassim Abou-Kheir Department of Anatomy Cell Biology and Physiological Sciences Faculty of Medicine American University of Beirut Bliss Street DTS Bldg Room 116-B Riad el Solh PO Box 110236/41 Beirut 1107-2020 Lebanon. Neuroscience Research Center Lebanese University Faculty of Medicine Beirut Lebanon. Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine Mount Sinai Medical Center Miami Beach FL USA. Medical Scientist Training Program College of Medicine Medical University of South Carolina Charleston SC USA. Neuroscience Research Center Lebanese University Faculty of Medicine Beirut Lebanon. yfares@ul.edu.lb. Department of Anatomy Cell Biology and Physiological Sciences Faculty of Medicine American University of Beirut Bliss Street DTS Bldg Room 116-B Riad el Solh PO Box 110236/41 Beirut 1107-2020 Lebanon. wa12@aub.edu.lb.

The original article can be found online.

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Corrigendum to: Local Perturbations of Cortical Excitability Propagate Differentially Through Large-Scale Functional Networks

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Cerebral cortex (New York, N.Y. : 1991) 2020年第5期30卷 3431页

作者： Zachary P Rosenthal Ryan V Raut Ping Yan Deima Koko Andrew W Kraft Leah Czerniewski Benjamin Acland Anish Mitra Lawrence H Snyder Adam Q Bauer Abraham Z Snyder Joseph P Culver Marcus E Raichle Jin-Moo Lee Medical Scientist Training Program Washington University School of Medicine St. Louis MO 63110 USA. Graduate Program of Neuroscience Washington University School of Medicine St. Louis MO 63110 USA. Department of Neurology Washington University School of Medicine St. Louis MO 63110 USA. Department of Radiology Washington University School of Medicine St. Louis MO 63110 USA. Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston MA 02115 USA. Department of Biomedical Engineering Washington University School of Medicine St. Louis MO 63110 USA. Department of Neuroscience Washington University School of Medicine St. Louis MO 63110 USA. Department of Physics Washington University School of Medicine St. Louis MO 63110 USA.

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Author Correction: A local tumor microenvironment acquired super-enhancer induces an oncogenic driver in colorectal carcinoma

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Nature communications 2023年第1期14卷 1923页

作者： Royce W Zhou Jia Xu Tiphaine C Martin Alexis L Zachem John He Sait Ozturk Deniz Demircioglu Ankita Bansal Andrew P Trotta Bruno Giotti Berkley Gryder Yao Shen Xuewei Wu Saul Carcamo Kaitlyn Bosch Benjamin Hopkins Alexander Tsankov Randolph Steinhagen Drew R Jones John Asara Jerry E Chipuk Rachel Brody Steven Itzkowitz Iok In Christine Chio Dan Hasson Emily Bernstein Ramon E Parsons Department of Oncological Sciences The Tisch Cancer Institute Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Graduate School of Biomedical Sciences Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Medical Scientist Training Program Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Department of Genetics and Genome Sciences Case Western Reserve University Cleveland OH 44106 USA. Division of Colon and Rectal Surgery Department of Surgery Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Metabolomics Core Resource Laboratory NYU Langone Health New York NY 10016 USA. Mass Spectrometry Core Beth Israel Deaconess Medical Center Boston MA 02215 USA. Mount Sinai Biorepository Department of Pathology Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Division of Gastroenterology Department of Medicine Icahn School of Medicine at Mount Sinai New York NY 10029 USA. Institute for Cancer Genetics Department of Genetics and Development Columbia University Medical Center New York NY 10032 USA. Department of Oncological Sciences The Tisch Cancer Institute Icahn School of Medicine at Mount Sinai New York NY 10029 USA. ramon.parsons@mssm.edu. Graduate School of Biomedical Sciences Icahn School of Medicine at Mount Sinai New York NY 10029 USA. ramon.parsons@mssm.edu.

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Author Correction: The bromodomain containing protein BRD-9 orchestrates RAD51-RAD54 complex formation and regulates homologous recombination-mediated repair

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Nature communications 2022年第1期13卷 7190页

作者： Qin Zhou Jinzhou Huang Chao Zhang Fei Zhao Wootae Kim Xinyi Tu Yong Zhang Somaira Nowsheen Qian Zhu Min Deng Yuping Chen Bo Qin Kuntian Luo Baohua Liu Zhenkun Lou Robert W Mutter Jian Yuan Department of Oncology Mayo Clinic Rochester MN 55905 USA. Department of Radiation Oncology Hubei Cancer Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430022 China. Mayo Medical Scientist Training Program Mayo Clinic School of Medicine and Mayo Clinic Graduate School of Biomedical Sciences Mayo Clinic Rochester MN 55905 USA. Department of Molecular Pharmacology and Experimental Therapeutics Mayo Clinic Rochester MN 55905 USA. Research Center for Translational Medicine East Hospital Tongji University School of medicine Shanghai 200120 China. Key Laboratory of Arrhythmias of the Ministry of Education of China East Hospital Tongji University School of Medicine Shanghai 200120 China. Guangdong Key Laboratory of Genome Stability and Human Disease Prevention Department of Biochemistry & Molecular Biology School of Basic Medical Sciences Shenzhen University Health Science Center Shenzhen 518055 China. Department of Radiation Oncology Mayo Clinic Rochester MN 55905 USA. Mutter.Robert@mayo.edu. Research Center for Translational Medicine East Hospital Tongji University School of medicine Shanghai 200120 China. yuanjian229@***. Key Laboratory of Arrhythmias of the Ministry of Education of China East Hospital Tongji University School of Medicine Shanghai 200120 China. yuanjian229@***.

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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

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Movement disorders : official journal of the Movement Disorder Society 2023年第2期38卷 286-303页

作者： Eva-Juliane Vollstedt Susen Schaake Katja Lohmann Shalini Padmanabhan Alexis Brice Suzanne Lesage Christelle Tesson Marie Vidailhet Isabel Wurster Faycel Hentati Anat Mirelman Nir Giladi Karen Marder Cheryl Waters Stanley Fahn Meike Kasten Norbert Brüggemann Max Borsche Tatiana Foroud Eduardo Tolosa Alicia Garrido Grazia Annesi Monica Gagliardi Maria Bozi Leonidas Stefanis Joaquim J Ferreira Leonor Correia Guedes Micol Avenali Simona Petrucci Lorraine Clark Ekaterina Y Fedotova Natalya Y Abramycheva Victoria Alvarez Manuel Menéndez-González Silvia Jesús Maestre Pilar Gómez-Garre Pablo Mir Andrea Carmine Belin Caroline Ran Chin-Hsien Lin Ming-Che Kuo David Crosiers Zbigniew K Wszolek Owen A Ross Joseph Jankovic Kenya Nishioka Manabu Funayama Jordi Clarimon Caroline H Williams-Gray Marta Camacho Mario Cornejo-Olivas Luis Torres-Ramirez Yih-Ru Wu Guey-Jen Lee-Chen Ana Morgadinho Teeratorn Pulkes Pichet Termsarasab Daniela Berg Gregor Kuhlenbäumer Andrea A Kühn Friederike Borngräber Giuseppe de Michele Anna De Rosa Alexander Zimprich Andreas Puschmann George D Mellick Jolanta Dorszewska Jonathan Carr Rosangela Ferese Stefano Gambardella Bruce Chase Katerina Markopoulou Wataru Satake Tatsushi Toda Malco Rossi Marcelo Merello Timothy Lynch Diana A Olszewska Shen-Yang Lim Azlina Ahmad-Annuar Ai Huey Tan Bashayer Al-Mubarak Hasmet Hanagasi Dariusz Koziorowski Sibel Ertan Gençer Genç Patricia de Carvalho Aguiar Melinda Barkhuizen Marcia M G Pimentel Rachel Saunders-Pullman Bart van de Warrenburg Susan Bressman Mathias Toft Silke Appel-Cresswell Anthony E Lang Matej Skorvanek Agnita J W Boon Rejko Krüger Esther M Sammler Vitor Tumas Bao-Rong Zhang Gaetan Garraux Sun Ju Chung Yun Joong Kim Juliane Winkelmann Carolyn M Sue Eng-King Tan Joana Damásio Péter Klivényi Vladimir S Kostic David Arkadir Mika Martikainen Vanderci Borges Jens Michael Hertz Laura Brighina Mariana Spitz Oksana Suchowersky Olaf Riess Parimal Das Brit Mollenhauer Emilia M Gatto Maria Skaalum Petersen Nobutaka Hattori Ruey-Meei Wu Sergey N Illarioshkin Enz Institute of Neurogenetics University of Lübeck Lübeck Germany. Research Programs The Michael J. Fox Foundation for Parkinson's Research New York New York USA. Department of Neurology Sorbonne University Paris Brain Institute - ICM Inserm CNRS Assistance Publique Hôpitaux de Paris Pitié-Salpêtrière Hospital Paris France. Sorbonne University Paris Brain Institute - ICM Inserm CNRS Paris France. Department of Neurodegenerative Diseases University of Tuebingen Tuebingen Baden Wuerttemberg Germany Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases Tuebingen Germany. Mongi Ben Hmida National Institute of Neurology Tunis Tunisia. Laboratory of Early Markers of Neurodegeneration Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel Sackler School of Medicine Tel-Aviv University Tel-Aviv Israel Sagol School of Neuroscience Tel-Aviv University Tel-Aviv Israel. Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel Sackler School of Medicine Sagol School of Neuroscience Tel-Aviv University Tel-Aviv Israel. Department of Neurology Taub Institute for Alzheimer's Disease and the Aging Brain Columbia University New York New York USA. Department of Neurology Columbia University New York New York USA. Department of Psychiatry and Psychotherapy and Institute of Neurogenetics University of Lübeck Lübeck Germany. Department of Neurology and Institute of Neurogenetics University of Lübeck Lübeck Germany. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA. Parkinson Disease and Movement Disorders Unit Neurology Service Hospital Clínic de Barcelona Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) University of Barcelona (UB) Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII) Barcelona Spain. Institute of Biomedical Research and Innovation National Research Council Cosenza

BACKGROUND:As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE:The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS:We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS:We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS:Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clini

关键词： Parkinson's disease monogenic PD

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Four-dimensional computed tomography-derived distal radioulnar joint osteokinematics during pronosupination with unilateral triangular fibrocartilage complex injuries

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Journal of biomechanics 2025年 188卷 112703页

作者： Taylor P Trentadue Cesar Lopez Andrew Thoreson Robert A Foley Nikkole M Weber David R Holmes Kai-Nan An Shuai Leng Kristin D Zhao Sanjeev Kakar Assistive and Restorative Technology Laboratory Rehabilitation Medicine Research Center Department of Physical Medicine and Rehabilitation Mayo Clinic Rochester MN USA Mayo Clinic Medical Scientist Training Program Mayo Clinic Rochester MN USA Mayo Clinic Graduate Program in Biomedical Engineering and Physiology Mayo Clinic Rochester MN USA. Electronic address: trentadue.taylor@mayo.edu. Assistive and Restorative Technology Laboratory Rehabilitation Medicine Research Center Department of Physical Medicine and Rehabilitation Mayo Clinic Rochester MN USA. Electronic address: lopez.cesar@mayo.edu. Assistive and Restorative Technology Laboratory Rehabilitation Medicine Research Center Department of Physical Medicine and Rehabilitation Mayo Clinic Rochester MN USA. Electronic address: thoreson.andrew@mayo.edu. Assistive and Restorative Technology Laboratory Rehabilitation Medicine Research Center Department of Physical Medicine and Rehabilitation Mayo Clinic Rochester MN USA. Electronic address: robert.a.foley@und.edu. Computed Tomography Clinical Innovation Center Mayo Clinic Rochester MN USA Department of Radiology Mayo Clinic Rochester MN USA. Electronic address: weber.nikkole@mayo.edu. Department of Physiology and Biomedical Engineering Mayo Clinic Rochester MN USA Biomedical Imaging Resource Core Facility Mayo Clinic Rochester MN USA. Electronic address: holmes.david3@mayo.edu. Medical Device Innovation Center National Cheng Kung University Tainan Taiwan. Electronic address: an.kainan@mayo.edu. Department of Radiology Mayo Clinic Rochester MN USA Department of Physiology and Biomedical Engineering Mayo Clinic Rochester MN USA. Electronic address: leng.shuai@mayo.edu. Department of Physiology and Biomedical Engineering Mayo Clinic Rochester MN USA. Electronic address: zhao.kristin@mayo.edu. Division of Hand and Upper Extremity Surgery Department of Orthopedic Surgery Mayo Clinic Rochester MN USA. Electronic address: kakar.sanjeev@mayo.edu.

The distal radioulnar joint (DRUJ) is a load-bearing joint that permits pronosupination of the forearm. Pronosupination may provoke instability following injuries to the soft tissue stabilizers of the joint, particularly when loaded against resistance. The objective of this study was to assess osteokinematics between the radius and ulna during pronosupination in 12 participants with suspected unilateral DRUJ injury enrolled in a prospective study using four-dimensional computed tomography (4DCT) at baseline and six months after arthroscopic surgery. We hypothesized that inter-landmark distances between the ulnar styloid and three landmarks on the distal radius-the central reference point, dorsal corner, and volar corner-would be related to relative pronosupination position, wrist injury status (injured versus uninjured), application of load (unresisted versus resisted), and timepoint (preoperative versus postoperative). Generalized linear mixed effects models were created to assess the change in inter-landmark distances with different levels of the predictor variables. Inter-landmark distances at all three radius landmarks were significantly associated with pronosupination angle and application of resistance. The effects of injury and surgery were less consistent and, if present, significant at only the volar corner landmark. The random effect for participant was statistically significant in all models. 4DCT-derived osteokinematics reflect position in the pronosupination arc and the application of resistance. However, the effect of injury or intervention was not statistically significant in the majority of single-landmark models. This suggests that 4DCT detects changes in biomechanical phenomena, although more sophisticated biomarkers may be justified for injury classification.

关键词： Distal radioulnar joint Dynamic computed tomography Four-dimensional computed tomography Photon-counting detector computed tomography Wrist biomechanics

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Author Correction: Deubiquitinase Usp12 functions noncatalytically to induce autophagy and confer neuroprotection in models of Huntington's disease

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Nature communications 2020年第1期11卷 1065页

作者： Rebecca Aron Pasquale Pellegrini Edward W Green Daniel C Maddison Kwadwo Opoku-Nsiah Ana Osório Oliveira Jinny S Wong Aaron C Daub Flaviano Giorgini Paul Muchowski Steven Finkbeiner Center for Systems and Therapeutics & Taube/Koret Center for Neurodegenerative Disease Gladstone Institutes 1650 Owens St. San Francisco CA 94158 USA. Taube-Koret Center for Neurodegenerative Disease San Francisco CA 94158 USA. Yumanity Therapeutics Cambridge MA 02139 USA. Department of Genetics and Genome Biology College of Life Sciences University of Leicester Adrian Building University Road Leicester LE1 7RH UK. DKFZ Heidelberg 69120 Germany. Graduate Program in Chemistry and Chemical Biology Department of Pharmaceutical Chemistry University of California-San Francisco San Francisco CA 94158 USA. Center for Systems and Therapeutics & Taube/Koret Center for Neurodegenerative Disease Gladstone Institutes 1650 Owens St. San Francisco CA 94158 USA. sfinkbeiner@gladstone.ucsf.edu. Taube-Koret Center for Neurodegenerative Disease San Francisco CA 94158 USA. sfinkbeiner@gladstone.ucsf.edu. Graduate Program in Biomedical Sciences University of California-San Francisco San Francisco CA 94158 USA. sfinkbeiner@gladstone.ucsf.edu. Graduate Program in Neuroscience University of California-San Francisco San Francisco CA 94158 USA. sfinkbeiner@gladstone.ucsf.edu. Graduate Program in Medical Scientist Training Program University of California-San Francisco San Francisco CA 94158 USA. sfinkbeiner@gladstone.ucsf.edu. Department of Neurology and Physiology University of California-San Francisco San Francisco CA 94158 USA. sfinkbeiner@gladstone.ucsf.edu.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Publisher Correction: Deubiquitinase Usp12 functions noncatalytically to induce autophagy and confer neuroprotection in models of Huntington's disease

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Nature communications 2020年第1期11卷 2374页

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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The Impact of Genetic Ancestry on Survival Outcomes in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group

HGG advances

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HGG advances 2025年 100466页

作者： Ekene A Onwuka Christina L Magyar Bailey A Martin-Giacalone Michael E Scheurer Deborah A Marquez-Do Mark Zobeck Elizabeth G Atkinson Erin R Rudzinski Michael A Arnold Donald A Barkauskas David Hall Javed Khan Jack F Shern Paul Scheet Brian Crompton Corinne M Linardic Douglas S Hawkins Rajkumar Venkatramani Lisa Mirabello Chad D Huff Melissa A Richard Philip J Lupo Department of Pediatric Surgery Surgical Oncology Texas Children's Hospital Baylor College of Medicine Houston TX 77030 USA. Graduate Program in Genetics and Genomics Baylor College of Medicine Houston TX 77030 USA Medical Scientist Training Program Baylor College of Medicine Houston TX 77030 USA McNair Medical Institute The Robert and Janice McNair Foundation Houston TX 77030 USA Department of Pediatrics Section of Hematology-Oncology Texas Children's Hospital Baylor College of Medicine Houston TX 77030 USA. Department of Pediatrics Section of Hematology-Oncology Texas Children's Hospital Baylor College of Medicine Houston TX 77030 USA Dan L. Duncan Comprehensive Cancer Center Baylor College of Medicine Houston TX 77030 USA Department of Pediatrics Emory University School of Medicine Atlanta University Aflac Cancer and Blood Disorders Center at Children's Healthcare of Atlanta. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX 77030 USA. Division of Hematology-Oncology Seattle Children's Hospital University of Washington Seattle WA 98105 USA. Department of Pathology and Laboratory Medicine Children's Hospital Colorado Aurora CO 80045 USA Department of Pathology University of Colorado Anschutz Medical Campus Aurora CO 80045 USA. Department of Population and Public Health Sciences Keck School of Medicine of the University of Southern California Los Angeles CA 90032 USA QuadW Childhood Sarcoma Biostatistics and Annotation Office Children's Oncology Group Monrovia CA 91016 USA. Oncogenomics Section Genetics Branch Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20892 USA. Pediatric Oncology Branch Center for Cancer Research National Cancer Institute Bethesda MD 20892 USA. Department of Epidemiology at the University of Texas MD Anderson Cancer Center

Emerging evidence suggests genetic ancestry may influence childhood cancer outcomes, but its impact on pediatric rhabdomyosarcoma (RMS) is unknown. We explored genetic ancestry's impact on survival among children with RMS. This multi-center observational cohort study is a secondary analysis of previously collected biobanking, genomic, and clinical data. The study included 920 individuals with newly diagnosed RMS under 40 years of age enrolled from 2005 to 2017 under the COG soft tissue sarcoma biobanking protocol D9902. The primary endpoints were: 1) event-free survival (EFS), defined as the time from study enrollment to tumor recurrence/progression, secondary malignancy, or death from any cause; and 2) overall survival (OS), defined as the time from study enrollment to death from any cause. Genetic ancestry was estimated using Grafpop software, and Cox regression assessed the association between genetic ancestry and EFS and OS, considering RMS overall, by fusion status, and histologic subtype. Covariates included sex, age at diagnosis, tumor stage, and histology, except during stratified analyses. In embryonal RMS and PAX3/7::FOXO1 fusion-negative RMS, individuals with South Asian or Asian-Pacific Islander ancestry showed worse EFS (HR: 2.06; 95% CI: 1.07-3.97; p = 0.03 and HR: 2.01; 95% CI: 1.07 - 3.76; p = 0.03, respectively) and OS (HR: 2.30; 95% CI: 1.09-4.84; p = 0.03 and HR: 2.33; 95% CI: 1.15 - 4.70; p = 0.020, respectively) compared to those with primarily European genetic ancestry. These findings suggest that genetic ancestry influences survival outcomes within RMS subtypes, and further understanding may improve precision medicine-based efforts.

关键词： Rhabdomyosarcoma South Asian/Asian-Pacific Islander genetic ancestry health disparities survival outcomes

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