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A Novel Variant of GP9 Gene Resulting in Bernard-Soulier Syndrome: A Case Report.
Cureus
December 2024
Pediatric, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive condition that is defined by low platelet count and platelet dysfunction characterized by the absence or dysfunction of the complex on the platelet surface. It is characterized by large defective platelets and thrombocytopenia. BSS is usually presented early in life.
View Article and Find Full Text PDFCircadian influences on sudden cardiac death and cardiac electrophysiology.
J Mol Cell Cardiol
January 2025
Department of Physiology, University of Kentucky, Lexington, KY, USA; Department of Internal Medicine, University of Kentucky, Lexington, KY, USA. Electronic address:
Cardiologists have analyzed daily patterns in the incidence of sudden cardiac death to identify environmental, behavioral, and physiological factors that trigger fatal arrhythmias. Recent studies have indicated an overall increase in sudden cardiac arrest during daytime hours when the frequency of arrhythmogenic triggers is highest. The risk of fatal arrhythmias arises from the interaction between these triggers-such as elevated sympathetic signaling, catecholamine levels, heart rate, afterload, and platelet aggregation-and the heart's susceptibility (myocardial substrate) to them.
View Article and Find Full Text PDFAndrogenic Anabolic Steroids Cause Thiol Imbalance in the Vascular Endothelial Cells.
Front Biosci (Landmark Ed)
January 2025
Department of Cytobiology and Proteomics, Medical University of Lodz, 92-215 Lodz, Poland.
Background: Androgenic anabolic steroids (AASs) are synthetic drugs structurally related to testosterone, with the ability to bind to androgen receptors. Their uncontrolled use by professional and recreational sportspeople is a widespread problem. AAS abuse is correlated with severe damage to the cardiovascular system, including changes in homeostasis and coagulation disorders.
View Article and Find Full Text PDFAdvancing Platelet Research Through Live-Cell Imaging: Challenges, Techniques, and Insights.
Sensors (Basel)
January 2025
School of Biomedical Engineering, University of Technology Sydney, Sydney, NSW 2007, Australia.
Platelet cells are essential to maintain haemostasis and play a critical role in thrombosis. They swiftly respond to vascular injury by adhering to damaged vessel surfaces, activating signalling pathways, and aggregating with each other to control bleeding. This dynamic process of platelet activation is intricately coordinated, spanning from membrane receptor maturation to intracellular interactions to whole-cell responses.
View Article and Find Full Text PDFPeriocular Aging Across Populations and Esthetic Considerations: A Narrative Review.
J Clin Med
January 2025
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada.
As the face ages, the skin, fat, muscle, and fascia descend, and the underlying bone, cartilage, and teeth may lose mass. Oculofacial aging is a multifactorial process that is influenced by genetic, environmental, and lifestyle factors. This review summarizes the patterns of oculofacial aging that are observed across populations, including variations in periorbital hollowing, eyelid ptosis, and skin elasticity.
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