Month: <span>July 2024</span>
Month: July 2024

Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population

Gene. 2024 Jul 19:148782. doi: 10.1016/j.gene.2024.148782. Online ahead of print. ABSTRACT Biotinidase deficiency (BTD) is an autosomal recessive disorder characterized by impaired recycling of the …

Antiarrhythmic therapy for narrow QRS supraventricular tachyarrhythmias in newborns and infants in the first year of life: potent tools to be handled with care

Indian Pacing Electrophysiol J. 2024 Jul 19:S0972-6292(24)00109-8. doi: 10.1016/j.ipej.2024.07.005. Online ahead of print. ABSTRACT Supraventricular tachyarrhythmias pose a significant challenge in neonates and infants, particularly …

Clostridium butyricum regulates intestinal barrier function via trek1 to improve behavioral abnormalities in mice with autism spectrum disorder

Cell Biosci. 2024 Jul 21;14(1):95. doi: 10.1186/s13578-024-01278-6. ABSTRACT BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that has been found to be associated …

ASO Author Reflections: Temporal Trends in Urinary Diversion in Radical Cystectomies from Europe’s Largest Monocentric Cohort with 2224 Cases Over 36 Years

Ann Surg Oncol. 2024 Jul 21. doi: 10.1245/s10434-024-15858-w. Online ahead of print. NO ABSTRACT PMID:39034368 | DOI:10.1245/s10434-024-15858-w

Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China

Brain Behav. 2024 Jul;14(7):e3630. doi: 10.1002/brb3.3630. ABSTRACT OBJECTIVE: This study was based on a retrospective clinical observational cohort study of a two-center application of nusinersen …