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Electrical storm in a patient with Charcot-Marie-Tooth disease treated with radiofrequency ablation and subsequent serious complication of implantable cardioverter defibrillator implantation: a case report.
Eur Heart J Case Rep
January 2025
Department of Internal Medicine and Cardiology, Faculty of Medicine, University Hospital Ostrava, University of Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic.
Background: Charcot-Marie-Tooth is the most common inherited neuromuscular disorder. Rarely, it can be associated with heart failure and various arrhythmic disturbances. This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease.
View Article and Find Full Text PDFAtypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Mol Genet Metab
December 2024
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States of America.
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.
View Article and Find Full Text PDFThe RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.
Mov Disord
December 2024
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Background And Objective: Recently, RAB32 has been identified as possibly linked to Parkinson's disease. We studied the prevalence and clinical correlates of the p.Ser71Arg variant in the RAB32 gene in a large case series of Italian patients with Parkinson's disease or atypical parkinsonism.
View Article and Find Full Text PDFIncidental neutropenia: An emergency medicine focused approach.
Am J Emerg Med
December 2024
The University of Texas Southwestern Medical Center, Department of Emergency Medicine, 5323 Harry Hines Boulevard, Dallas, TX 75390, United States.
Introduction: Neutropenia is defined as an absolute neutrophil count (ANC) < 1500 cells/microL and may be discovered incidentally in an asymptomatic, afebrile patient.
Objective: This narrative review provides an approach to the afebrile emergency department patient with incidental neutropenia.
Discussion: Neutropenia is an ANC < 1500 cells/microL, with mild neutropenia defined as an ANC ≥ 1000 to <1500 cells/microL, moderate ≥500 to <1000 cells/microL, severe <500 cells/microL, and agranulocytosis <200 cells/microL.
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
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