نتایج جستجو برای: hereditary hearing loss
تعداد نتایج: 562756 فیلتر نتایج به سال:
introduction: hearing loss is one of the most disabling impairments. using a hearing aid as an attempt to improve the hearing problem can positively affect the quality of life for these people. this research was aimed to assess satisfaction of hearing impaired patients with their hearing aids regarding the employed technology and style. materials and methods: this descriptive-analytic cross-s...
Usher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but also provided mechanistic explanations for the hearing and visual deficiencies in humans caused by USH1 mutations...
introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...
Hereditary hearing loss is the most common sensory deficit. We determined that progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for the protein truncating mutation SYNE4 c.228delAT. SYNE4, a gene not previously associated with hearing loss, encodes nesprin-4 (NESP4), an outer nuclear membrane (ONM) protein expressed in the hair cells of the ...
hearing loss (hl) is the most common sensory defect. various genetic as well as environmental factors have been shown to contribute in it. more than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (arnshl). here, we report a 6-year old female patient with bilateral pre-lingual hl in whom a mutation has been identified in triobp gene (c.6362c>t, s2121l). in s...
POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations of POU4F3 have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located in POU4F3 in a four-generation Chinese family. Target regi...
In recent years, huge advances have taken place in understanding of inner ear pathophysiology causing sensorineural hearing loss, tinnitus, and vertigo. Advances in understanding comprise biochemical and physiological research of stimulus perception and conduction, inner ear homeostasis, and hereditary diseases with underlying genetics. This review describes and tabulates the various causes of ...
Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of sensorineural hearing when damaged. To investigate the relation between genes involved in TJ function and hereditary loss of sensorineural hearing in...
abstract background: previous studies have indicated an unspecific correlation between noise exposure and blood pressure disturbances. blood pressure disturbances could be caused by the environmental hazards such as noise exposure. the aim of this study is to analyze whether there is a relationship between noise exposure and hypertension. methods: atotal sample of 218 workers working in a small...
hearing loss and meningitis were correlate in some aspects. hearing loss is the situation that can be shown in cochlear or retrocochlear defects. cochlear hearing loss is caused by inner or outer hair cell damage (however cochlear hearing loss has another causes, such as defect of arterial spiral ganglion, basilar and tectorial membrane) and retrocochlear hearing loss has neural origin and meni...
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