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The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China.
Ann Med
December 2025
Department of Neurology, Peking University First Hospital, China.
Objective: Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear. Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD.
Methods: This cohort study enrolled 37 Chinese FD patients registered in our center.
Adolescent anorectal malformations: Case series about 3 cases.
Int J Surg Case Rep
January 2025
Surgery Department, Faculty of medicine and public health, Evangelical University in Africa, Bukavu, South Kivu, the Democratic Republic of the Congo; Surgery Department, Panzi General Referral Hospital, Bukavu, South Kivu, the Democratic Republic of the Congo; Surgery Department, Faculty of medicine, Kisangani University, Kisangani, Tsopo, the Democratic Republic of the Congo.
Introduction: Anorectal malformations (ARM) are an anatomically complex in which anorectum is either agenesic or communicates with neighboring organs. They are rarely found in adolescents. The aim of this study was to describe and discuss according to literature the three cases of ARM in adolescents.
View Article and Find Full Text PDFGenotypes 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.
A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
is required to maintain supporting cell identity and vestibular function during maturation of the mammalian balance organs.
J Neurosci
January 2025
Flaum Eye Institute, Department of Ophthalmology, University of Rochester Medical Center, Rochester, New York, 14642, USA;
The inner ear houses both hearing and balance sensory modalities. The hearing and balance organs consist of similar cell types, including sensory hair cells and associated supporting cells. Previously we showed that is required for maintaining supporting cell survival during cochlear maturation.
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