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Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
J Neurol
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular Reference Centre, ERN-EURO-NMD, Avenida de Fernando Abril Martorell 106, 46026, Valencia, Spain.
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
Adult neurogenesis in the ventral hippocampus decreased among animal models of neurodevelopmental disorders.
Front Neural Circuits
January 2025
Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto, Japan.
Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction and communication, along with restricted and repetitive behaviors. Both genetic and environmental factors contribute to ASD, with prenatal exposure to valproic acid (VPA) and nicotine being linked to increased risk. Impaired adult hippocampal neurogenesis, particularly in the ventral region, is thought to play a role in the social deficits observed in ASD.
View Article and Find Full Text PDFThe impact of artifact levels on intra- and interobserver agreement in pediatric urodynamic traces.
J Pediatr Urol
December 2024
Department of Pediatric Urology, Göztepe Prof. Dr Süleyman Yalcin City Hospital, Istanbul, Turkey.
Introduction: In pediatric urology, urodynamic studies are considered the most reliable method for assessing the function of the lower urinary tract. These evaluations play a particularly important role in guiding treatment decisions for neurogenic bladder conditions.
Objective: The aim of this study is to assess the impact of artifacts on the interobserver and intraobserver agreement in the interpretation of pediatric urodynamic traces.
Isolation, Characterization, and Unlocking the Potential of Mimir124 Phage for Personalized Treatment of Difficult, Multidrug-Resistant Uropathogenic Strain.
Int J Mol Sci
November 2024
Research and Production Center "MicroMir", Nizhny Kiselny Lane 5/23 Bldg 1, 107031 Moscow, Russia.
and its bacteriophages are among the most studied model microorganisms. Bacteriophages for various strains can typically be easily isolated from environmental sources, and many of these viruses can be harnessed to combat infections in humans and animals. However, some relatively rare strains pose significant challenges in finding suitable phages.
View Article and Find Full Text PDFFocal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel pathogenic variation in TRIM8 gene: A case report.
SAGE Open Med Case Rep
December 2024
Department of Pediatric Nephrology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
To report a novel variation in the TRIM8 gene in a Chinese patient who developed focal segmental glomerulosclerosis (FSGS) and neurogenic bladder. Retrospective analysis of the clinical manifestations, laboratory results, renal biopsy results, and genetic data of the patient with FSGS complicated with neurogenic bladder. The patient was a 6-year and 8-month-old Chinese Zang ethnic boy with low-set ears, widely-spaced eyes (inner canthal distance exceeds the 95th percentile of normal inner canthal distance), a small jaw, and a short neck.
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