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Epicardial Substrate Ablation in Symptomatic Brugada Syndrome Patients: An Updated Systematic Review and Single-arm Meta-analysis.
Heart Rhythm
January 2025
Dante Pazzanese Institute of Cardiology, Department of Electrophysiology, São Paulo, Brazil.
Background: Brugada syndrome (BrS) is a genetic heart disease that predisposes individuals to ventricular arrhythmias and sudden cardiac death. Although implantable cardioverter-defibrillators (ICDs) and quinidine are primary treatments, recurrent BrS-triggered ventricular arrhythmias can persist. In this setting, epicardial substrate ablation has emerged as a promising alternative for symptomatic patients.
View Article and Find Full Text PDFDysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease.
Cells
January 2025
Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Sandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the gene, which encodes the β-subunit of the enzyme β-hexosaminidase. Lysosomal storage of GM2 triggers inflammation in the CNS and periphery. The NLRP3 inflammasome is an important coordinator of pro-inflammatory responses, and we have investigated its regulation in murine SD.
View Article and Find Full Text PDFIdiopathic infantile hypercalcemia with a variant triggered by vitamin D supplementation in fortified milk: A case report.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with variants.
View Article and Find Full Text PDFSurgical excision of symptomatic lateral band snapping syndrome in small finger proximal interphalangeal joint.
BMJ Case Rep
January 2025
Orthopedic Surgery, OhioHealth, Columbus, Ohio, USA.
Lateral band snapping syndrome can be a debilitating condition involving the proximal interphalangeal (PIP) joint of the fingers. Although rare, it is thought to occur due to disruption of the finger extensor mechanism allowing inappropriate subluxation of the lateral bands over the PIP joint, leading to mechanical and painful symptoms.Here, we describe a woman in her early 40s with a painful, snapping PIP joint secondary to a work-related injury.
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