Deafness is a sensory impairment which results in a partial or total loss in reception of sound. The intensity of sound can be measured in decibels (dB). It is usual to assess hearing thresholds at frequencies of 0.25, 0.5, 1, 2, 4 and 8 KHz. Sounds of each frequency are presented at different intensities to a subject and the response is recorded graphically as an audiogram. A loss in hearing i...

Introduction The cochlear implant (CI) procedure in patients with inner ear malformations is challenging. aim of this study was to evaluate auditory perception and speech development children enlarged vestibular aqueduct (EVA) relate the results diagnosis Pendred syndrome (PS), imaging findings, surgical course, postoperative period. Material methods group consisted 49 EVA, aged 11 months 15 ye...

Abstract Background Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 ( SALL1 ) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or without genitourinary congenital heart d...

Dysfunctional gap junctions caused by GJB2 (CX26) and GJB6 (CX30) mutations are implicated in nearly half of nonsyndromic hearing loss cases. A recent study identified a heterozygous mutation, c.119C>T (p.A40V), in the GJB6 gene of patients with nonsyndromic hearing loss. However, the functional role of the mutation in hearing loss remains unclear. In this study, analyses of cell biology indica...

OBJECTIVE To compare three-dimensionally the midfacial hard- and soft-tissue asymmetries between the affected and the unaffected sides and determine the relationship between the hard tissue and the overlying soft tissue in patients with nonsyndromic complete unilateral cleft lip and palate (UCLP) by cone-beam computed tomography (CBCT) analysis. METHODS The maxillofacial regions of 26 adults ...

Mutations in the gap junction β2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p.E114G (c.341G>A), are considered benign polymorphisms since these variants have been identified in both HL patients and normal hearing controls. However, some stu...

OBJECTIVE There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletion...

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...

The mitochondrial 12S rRNA A1555G mutation is one of the important causes of aminoglycoside-induced and nonsyndromic hearing loss. Here we employed an RNA-directed chemical-modification approach to understanding the pathogenesis of aminoglycoside-induced hearing loss. The patterns of chemical modification of RNA oligonucleotides carrying the A1555G mutation by dimethyl sulfate (DMS) were distin...