نتایج جستجو برای: inner ear malformations
تعداد نتایج: 129048 فیلتر نتایج به سال:
BACKGROUND AND PURPOSE Intracranial lipomas are uncommon congenital malformations that most often are asymptomatic. A rare subset of intracranial lipomas arises within the vestibule of the inner ear, which can cause sensorineural hearing loss. We present the CT and MR imaging characteristics of lipomas within the vestibule of the inner ear and propose a pathogenetic mechanism for this malformat...
Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein with transport function. It acts as an electroneutral, sodium-independent anion exchanger for a wide range of anions, such as iodide, chloride, formate, bicarbonate, hydroxide and thiocyanate. Pendrin expression was originally described in the thyroid gland, kidney and inner ear. Accordingly, pendrin mutations with reduc...
Mutations in human SLC26A4 are a common cause of hearing loss associated with enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger expressed in inner ear epithelial cells that secretes HCO3- into endolymph. Studies of Slc26a4-null mice indicate that pendrin is essential for inner ear development, but have not revealed whether pendrin is specifically necessary fo...
cochlear nerve (cn) aplasia refers to the absence of a visible cn on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (iac). magnetic resonance (mr) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (ct) is used to evaluate the iac or facial nerve canal. three types of aplasia or hypopl...
CHARGE association is characterized by ocular Coloboma, Heart malformations, choanal Atresia, Retardation of growth and development, Genital abnormalities and inner and external Ear abnormalities. Growth failure is a frequent find mainly associated with feeding difficulties or systemic diseases. To date, GH deficiency has been reported in only few patients with CHARGE association however long-t...
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