Temporal bone abnormalities in children with GJB2 mutations
نویسندگان
چکیده
منابع مشابه
Temporal bone imaging in GJB2 deafness.
OBJECTIVE To describe temporal bone findings on computed tomography (CT) imaging in GJB2-related hearing loss (HL). We asked whether evaluation of the temporal bone is required in individuals with biallelic GJB2 mutations. STUDY DESIGN Randomized, blinded, controlled, prospective measurement. METHODS Blood from 264 pediatric cochlear implant users was analyzed for mutations in the GJB2 gene...
متن کاملIn reference to temporal bone imaging in GJB2 deafness.
We read with interest the paper by Propst et al.1 concerning temporal bone imaging by computed tomography (CT) in patients with GJB2-related deafness. The GJB2 gene, encoding the connexin 26 protein, which is involved in gap junction formation, has been found to be the most common cause of autosomal recessive nonsyndromic sensorineural hearing loss (SNHL) in numerous world populations.2 Several...
متن کاملSpectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.
BACKGROUND AND PURPOSE Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequenc...
متن کاملGJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China
Non-syndromic hearing loss (NSHL) is a major public health issue and affects a substantial proportion of newborns worldwide. Currently little information is available about the molecular etiology of hearing impairment in the Chinese population. Therefore, this study aimed to perform a comprehensive investigation on the genetic mutation patterns of non-syndromic deafness in Zhongshan City, a cit...
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Background and Objective: Febrile seizures are one of the most common neurological disorders in children. The aim of this study was to investigate the extent of abnormal EEG reports and their association with other risk factors of febrile seizures. Material &Method: In this prospective observational study, all patients with febrile seizure admitted in Mousavi Hospital in Zanjan, Iran, from Ap...
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ژورنال
عنوان ژورنال: The Laryngoscope
سال: 2011
ISSN: 0023-852X
DOI: 10.1002/lary.21414