Individuals with Down syndrome (DS) have a partial or complete trisomy of chromosome 21, resulting in an increased risk for early-onset Alzheimer's disease (AD)-type dementia by early midlife. Despite ongoing clinical trials to treat late-onset AD, individuals with DS are often excluded. Furthermore, timely diagnosis or management is often not available. Of the genetic causes of AD, people with DS represent the largest cohort. Currently, there is a knowledge gap regarding the underlying neurobiological mechanisms of DS-related AD (DS-AD), partly due to limited access to well-characterized brain tissue and biomaterials for research. To address this challenge, we created an international consortium of brain banks focused on collecting and disseminating brain tissue from persons with DS throughout their lifespan, named the Down Syndrome Biobank Consortium (DSBC) consisting of 11 biobanking sites located in Europe, India, and the USA. This perspective describes the DSBC harmonized protocols and tissue dissemination goals.
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http://dx.doi.org/10.1002/alz.13692 | DOI Listing |
Sci China Life Sci
January 2025
National Clinical Research Center for Metabolic Diseases, Metabolic Syndrome Research Center, Key Laboratory of Diabetes Immunology, Ministry of Education, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University; CSU-Sinocare Research Center for Nutrition and Metabolic Health, Xiangya School of Public Health, Central South University, Furong Laboratory, Changsha, 410011, China.
Despite considerable research underscoring the importance of carbohydrate intake in relation to the risk of type 2 diabetes (T2D), a comprehensive assessment of this relationship is currently lacking. We aimed to examine the associations of various types and food sources of dietary carbohydrate intake with the risk of T2D, to evaluate potential effect modification by other factors, including genetic susceptibility, and to explore the potential mediators for such associations. The present study included 161,872 participants of the UK Biobank who were free of prevalent cancer, cardiovascular disease, or diabetes, and had at least one validated 24-h dietary recall assessment.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT, UK.
Predictive value of metabolic syndrome for prostate cancer risk is not clear. We aimed to assess the association between metabolic syndrome and its components with prostate cancer incidence. The primary outcome was prostate cancer incidence, i.
View Article and Find Full Text PDFActa Otolaryngol
January 2025
Department of Oto-Rhino-Laryngology, Head & Neck Surgery, Center of Neurosensorial-Head & Neck Diseases, Lariboisière Hospital, University of Paris Cité, Assistance Publique des Hôpitaux de Paris & UMR 1141 Center for the Developing Brain, Paris Biobank BB-0033-00064, Platform of Biopathology and Innovative Technologies for Health, Paris, France.
Background: Superior canal dehiscence syndrome (Minor's syndrome) is a condition characterized by a bony defect in the superior semicircular canal (SSCC), with treatment primarily being surgical, notably through plugging of SSCC.
Aims/objectives: To examine the clinical outcome and postoperative VHIT findings after transmastoid plugging of the SSCC.
Materials And Methods: Patients having a superior semicircular canal dehiscence (SSCCD) syndrome with debilitating symptoms who underwent a plugging of the SSCC a transmastoid approach were included.
J Transl Med
January 2025
Department of Rheumatology and Immunology, Peking University Third Hospital, No. 49, North Garden Road, Beijing, 100191, China.
Background: Sjogren syndrome (SS) is a chronic systemic autoimmune disease and its pathogenesis often involves the participation of numerous immune cells and inflammatory factors. Despite increased researches and studies recently focusing on this area, it remains to be fully elucidated. We decide to incorporate genetic insight into investigation of the causal link between various immune cells, inflammatory factors and pathogenesis of Sjogren syndrome (SS).
View Article and Find Full Text PDFPurpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).
Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.
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