Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1051/medsci/2019233 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Issues of auditory implant in children with cochlear nerve deficiency].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
January 2025
Cochlear nerve deficiency（CND） is a rare inner ear malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. About 18% of congenital hearing loss are associated with CND. It is a disease of uncertain cause.
View Article and Find Full Text PDFWorldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDF[Audiological aspects of rehabilitation after cochlear implantation in patients with inner ear malformations].
Vestn Otorinolaringol
December 2024
St. Petersburg Research Institute of Ear, Throat, Nose and Speech, St. Petersburg, Russia.
Unlabelled: The article is devoted to the problem of the rehabilitation stage of cochlear implantation in patients with inner ear abnormalities. It provides a detailed analysis of the audiological characteristics of such patients and draws conclusions about approaches to interpreting diagnostic data and speech processors fitting.
Material And Methods: The track records of 80 patients with abnormalities of the inner ear development were retrospectively studied, of which 10 had abnormal structure of the auditory nerve.
Case report: A novel nonsense mutation in the gene causes nonsyndromic hearing loss in a China family.
Front Genet
December 2024
Hainan Women and Children's Medical Center, Hainan Medical University, Hainan Academy of Medical sciences, Haikou, China.
The gene is located on chromosome 5q13.2 and is associated with autosomal recessive nonsyndromic hearing loss (OMIM: # 610572). In this study, we identified and reported a novel nonsense mutation in c.
View Article and Find Full Text PDFDental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.
Pediatr Dermatol
December 2024
Department of Pediatric Dermatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!