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Genotypes and clinical phenotypes of pediatric patients with NOG variants: Middle ear surgical outcomes from a Tertiary Center in South Korea.
Int J Pediatr Otorhinolaryngol
January 2025
Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea; Sensory Organ Research Institute, Seoul National University, Medical Research Center, Seoul, Republic of Korea. Electronic address:
Objective: Although NOG variants are linked to congenital stapes fixation and conductive hearing loss (CHL), little is known about middle ear surgery outcomes and the characteristics of accompanying inner ear anomalies. We explored auditory phenotypes in patients with NOG variants, with a focus on the outcomes of middle ear surgery.
Methods: This study included 11 patients from five unrelated Korean families harboring NOG variants.
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Mov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
View Article and Find Full Text PDFSevere neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.
JIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFThe quality of life of primary caretakers of children with cerebral palsy.
J Family Med Prim Care
October 2024
Department of Pediatrics, TN Medical College and BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra, India.
Background: Cerebral palsy (CP) is a heterogeneous group of disorder affecting the development of movement and posture, which is permanent nonprogressive. Previous studies in different regions have shown links between caregivers' mental health and children's well-being. However, the lack of such detailed research for the caretakers of children with CP and correlation of quality of life affected the type and severity of the condition; this necessitates the development of a new study to assess caregivers' quality of life.
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