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Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Neurology
February 2025
Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders.
Methods: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023.
Obesity phenotypes and dyslipidemia in adults from four African countries: An H3Africa AWI-Gen study.
PLoS One
January 2025
Faculty of Health Sciences, Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, Johannesburg.
Introduction: The contribution of obesity phenotypes to dyslipidaemia in middle-aged adults from four sub-Saharan African (SSA) countries at different stages of the epidemiological transition has not been reported. We characterized lipid levels and investigated their relation with the growing burden of obesity in SSA countries.
Methods: A cross-sectional study was conducted in Burkina Faso, Ghana, Kenya and South Africa.
ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.
Invest Ophthalmol Vis Sci
January 2025
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
Purpose: The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort.
Methods: For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by in silico tools and validated through minigene experiments. Comprehensive ocular examinations, especially fundus changes, were carried out and analyzed.
Investigating Smartphone-Based Sensing Features for Depression Severity Prediction: Observation Study.
J Med Internet Res
January 2025
Department of Clinical Psychology and Psychotherapy, Institute of Psychology and Education, Ulm University, Ulm, Germany.
Background: Unobtrusively collected objective sensor data from everyday devices like smartphones provide a novel paradigm to infer mental health symptoms. This process, called smart sensing, allows a fine-grained assessment of various features (eg, time spent at home based on the GPS sensor). Based on its prevalence and impact, depression is a promising target for smart sensing.
View Article and Find Full Text PDFThe impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
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