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The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.
Front Immunol
January 2025
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.
View Article and Find Full Text PDFEditorial: Climate change is a children's health hazard.
Environ Res Health
October 2024
Pediatrics, Emory University School of Medicine, Atlanta, GA, United States of America.
As temperatures defy heat records, it is difficult to ignore the implications of climate change for public health, including impacts on population health more specifically. In short, climate change is happening now and presents an immediate hazard to human health on a global scale. Age-related health effects are an inalienable truth; physiology is relatively universal, and so are the ways in which our bodies respond to different types and levels of exposures to environmental stressors at different lifestages.
View Article and Find Full Text PDFBackground And Aims: Schizophrenia (SCZ) is among the most persistent and devastating psychological problems. Different genetic polymorphisms are responsible for the predisposition of SCZ, and we screened (rs2071287, rs204993) and (rs2070673) polymorphisms in this study to find the connection with SCZ development.
Methods: We investigated a total of 420 samples (210 patients and 210 controls) and used the PCR-RFLP technique to genotype all SNPs.
Development and pilot evaluation of an evidence-based algorithm for MASLD (formerly NAFLD) management in primary care in Europe.
Front Med (Lausanne)
November 2024
Clinic of Social and Family Medicine, School of Medicine, University of Crete, Heraklion, Greece.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly NAFLD), emerges as major cause of morbidity and mortality globally, with chronic patients facing increased risk. Guidelines on MASLD management in primary care (PC) are limited. This study aimed to develop and evaluate a clinical care pathway for use in PC to improve MASLD screening and management, including early detection, communication and treatment, in three European countries (Greece, Spain, the Netherlands).
View Article and Find Full Text PDFEsports Physical Exercise/Performance Matrix 1.0 Country Factsheets: a protocol for national, regional, and global annual assessment study protocol.
Front Public Health
December 2024
College of Physical Education, Hunan Normal University, Changsha, China.
This protocol helps evaluators gather current data and prepare annual assessments based on specific indicators to provide insights into physical activity among esports players and identify the challenges they face. This manuscript aims to develop a methodology for creating a standardized monitoring system to assess physical exercise and performance in esports players at national, regional, and global levels. This study protocol proposes 20 online sociodemographic indicators to help characterize participating countries and outline each country's demographic profile.
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