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Decreased expression of hsa-miR-142-3p and hsa-miR-155-5p in common variable immunodeficiency and involvement of their target genes and biological pathways.
Allergol Immunopathol (Madr)
January 2025
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran;
Common variable immunodeficiency (CVID) is the most common symptomatic and heterogeneous type of inborn errors of immunity (IEI). However, the pathogenesis process of this disease is often unknown. Epigenetic modifications may be involved in unresolved patients.
View Article and Find Full Text PDFGenetic and environmental influences on alcohol consumption in middle to late life.
Psychol Addict Behav
January 2025
Department of Psychiatry, Center for Behavior Genetics of Aging, University of California, San Diego.
Objective: Alcohol use is common in older adults and linked to poor health and aging outcomes. Studies have demonstrated genetic and environmental contributions to the quantity of alcohol consumption in mid-to-late life, but less is known about whether these influences are moderated by sociodemographic factors such as age, sex, and educational attainment. This study sought to better understand sociodemographic trends in alcohol consumption across the second half of the life course and their underlying genetic and environmental influences.
View Article and Find Full Text PDF'Nomadic' Hematopoietic Stem Cells Navigate the Embryonic Landscape.
Stem Cell Rev Rep
January 2025
Department of Integrative Biology, Gene Therapy Laboratory, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore, TN, 632 014, India.
Hematopoietic stem cells are a unique population of tissue-resident multipotent cells with an extensive ability to self-renew and regenerate the entire lineage of differentiated blood cells. Stem cells reside in a highly specialized microenvironment with surrounding supporting cells, forming a complex and dynamic network to preserve and maintain their function. The survival, activation, and quiescence of stem cells are largely influenced by niche-derived signals, with aging niche contributing to a decline in stem cell function.
View Article and Find Full Text PDFHot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.
Curr Cardiol Rep
January 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.
Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.
View Article and Find Full Text PDFPaediatric renal tumours: an update on challenges and recent developments.
Virchows Arch
January 2025
Histology Laboratory, Children's Health Ireland, Dublin, Ireland.
Paediatric renal tumours include a broad range of neoplasms which largely differ, but also overlap to a smaller extent, with adult kidney cancer. These include the embryonal tumour nephroblastoma, which accounts for the majority of cases of kidney cancer in the first decade of life and, despite boasting a cure in ~ 90% cases, still presents clinical challenges in a small proportion of cases. A variety of less common mesenchymal tumours, including the mostly indolent congenital mesoblastic nephroma, clear cell sarcoma of kidney which continues to be associated with poor outcomes for higher stage disease, and the typically lethal malignant rhabdoid tumour, form the bulk of the remaining presentations in the first decade.
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