نتایج جستجو برای: large vestibular aqueduct
تعداد نتایج: 1043675 فیلتر نتایج به سال:
The histories of two pediatric patients who received cochlear implants with subsequent partial recovery of hearing in the nonimplanted ear are reviewed. One child had a sudden bilateral hearing loss, presumably secondary to autoimmune ear disease. The other child had a bilateral progressive hearing loss diagnosed as large vestibular aqueduct syndrome (LVAS). The rationale for the timing of the ...
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. Th...
Mutations of SLC26A4 are associated with incomplete partition type II (IP-II) and isolated enlargement of the vestibular aqueduct (EVA). We experienced a congenitally deaf 6-year-old boy with a rare p.Thr410Met homozygous mutation in SLC26A4 who underwent bilateral cochlear implantation. He had bilateral inner ear malformation, in which the dilated vestibule and EVA were identical to those in I...
Mutations of SLC26A4 are a common cause of human hearing loss associated with enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in a variety of epithelial cells in the cochlea, the vestibular labyrinth and the endolymphatic sac. Slc26a4 (Δ/Δ) mice are devoid of pendrin and develop a severe enlargement of the membranous labyrinth, fail to acquire heari...
Objective: Meniere's disease (MD) progresses from unilateral to bilateral in up 50% of patients, often chronically and severely impairing balance hearing functions. According previous studies, 91% MD patients demonstrate hypoplasia the endolymphatic sac (ES) upon histological radiological examination their inner ears. Here, we seek validate a marker for ES that predicts risk future progression ...
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