نتایج جستجو برای: hereditary deafness
تعداد نتایج: 91403 فیلتر نتایج به سال:
Background & Aim: When inner ear is disturbed, both hearing sensitivity and selective property decrease. Early rehabilitation for proper progression of speech and language appropriate to age is mandatory. Several studies were performed to compare factors that affect the results of cochlear implantations to select the best candidates on the basis of different criteria. This study was underta...
Although deafness can be acquired throughout an animal's life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant problem in several species. Extensive reviews exist of the genetics of deafness in humans and mice, but not for deafness in domestic animals. Hereditary deafness in many species and breeds is associated with loci for white pigme...
LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman wi...
Current therapy for patients with hereditary absence of cochlear hair cells, who have severe or profound deafness, is restricted to cochlear implantation, a procedure that requires survival of the auditory nerve. Mouse mutations that serve as models for genetic deafness can be utilized for developing and enhancing therapies for hereditary deafness. A mouse with Pou4f3 loss of function has no ha...
Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact that these developments have had in both deafness research and clinical arenas. We review commonly...
A 21-year-old Grenadian girl undergoing investigation in Trinidad for anaemia was diagnosed as a case of hereditary nephritis. She had the clinical features of a nephropathy, nerve deafness and an ocular defect. Renal histology was exceptional in that in addition to the typical findings of a hereditary nephritis, cystic areas generally associated with medullary cystic disease were noted. Severa...
Introduction & Objective : Hearing loss is the most prevalent form of sensory impairment in humans, affecting approximately one in 1000 infants. In more than half of the cases, the deafness is inherited, and about 80% of hereditary deafness transmitted by autosomal recessive pattern. In hereditary congenital deafness, numerous mutations in GJB2 make the largest fractional contribution in many w...
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