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Efficacy of Clindamycin in Preventing Abortion and Vertical Transmission of (PRU Strain) Infection in Pregnant BALB/c Mice.
Iran J Pharm Res
October 2024
Laboratory of Molecular Parasitology, Scientific Center of Zoology and Hydroecology, Yerevan, Armenia.
Background: transmission can occur during pregnancy if the mother contracts the infection for the first time. Treatment strategies include the use of antimicrobial medications and providing supportive care. Spiramycin is commonly used to treat toxoplasmosis in pregnant women and to hinder the disease's transmission.
View Article and Find Full Text PDFNovel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFSuccessful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Eur J Neurol
January 2025
Genetics Department, Institut de Recerca Sant Pau (IR SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.
View Article and Find Full Text PDFSurviving the Nightmare: Massive Bleeding From Large Intraoral Arteriovenous Malformation During Airway Management for Angioembolization Procedure.
Case Rep Anesthesiol
December 2024
Department of Anaesthesiology, Aga Khan University Hospital, Karachi, Pakistan.
Arteriovenous malformations (AVMs) in the head and neck present significant challenges due to airway management complexities and hemorrhage risks. This case report describes a 15-year-old female with a congenital facial AVM causing dyspnea and obstructive symptoms. The patient required angioembolization of the AVM, but many hospitals deferred the procedure due to the anticipated difficult airway and severe bleeding risks.
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