Deafness
Mostrando 1-12 de 411 artigos, teses e dissertações.
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1. A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of th
Genet. Mol. Biol.. Publicado em: 14/11/2018
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2. Auditory Speech Perception Development in Relation to Patient’s Age with Cochlear Implant
Abstract Introduction A cochlear implant in adolescent patients with pre-lingual deafness is still a debatable issue. Objective The objective of this study is to analyze and compare the development of auditory speech perception in children with pre-lingual auditory impairment submitted to cochlear implant, in different age groups in the first year after
Int. Arch. Otorhinolaryngol.. Publicado em: 2017-09
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3. Do you know this syndrome? Leopard syndrome
ABSTRACT Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the
An. Bras. Dermatol.. Publicado em: 2017-02
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4. Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region
Abstract The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine c
Genet. Mol. Biol.. Publicado em: 10/10/2016
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5. Cochlear Implantation and Single-sided Deafness: A Systematic Review of the Literature
Introduction Current data show that binaural hearing is superior to unilateral hearing, specifically in the understanding of speech in noisy environments. Furthermore, unilateral hearing reduce oné s ability to localize sound. Objectives This study provides a systematic review of recent studies to evaluate the outcomes of cochlear implantation in patien
Int. Arch. Otorhinolaryngol.. Publicado em: 2016-03
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6. Active Bone Conduction Prosthesis: BonebridgeTM
Introduction Bone conduction implants are indicated for patients with conductive and mixed hearing loss, as well as for patients with single-sided deafness (SSD). The transcutaneous technology avoids several complications of the percutaneous bone conduction implants including skin reaction, skin growth over the abutment, and wound infection. The Bonebridge
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-12
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7. Syndrome in Question
AbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
An. Bras. Dermatol.. Publicado em: 2015-08
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8. Intralabyrinthine Penetrating Ventilation Tube with Preservation of Hearing: An Unusual Clinical Situation
Introduction Traumatic perilymphatic fistula is not a rare event with regards to sport activities or traffic accident. However, iatrogenic damage to the inner ear can occur following the common use of grommets and ventilation tube insertion.
Objectives To report an unusual case of insertion of aeration t
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-06
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9. Anatomopathology of the Superstructure of the Stapes in Patients with Otosclerosis
Introduction Otosclerosis is a disease that causes bone resorption and deposition in the auditory structures, leading to deafness. Many studies have evaluated the histopathology of the stapes footplate in this disease (osteoblasts, osteoclasts, vascular proliferation, fibroblasts, and histiocytes), but we found no studies in the litera
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-03
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10. Relationship between Otolaryngologic Complaints and Systemic Comorbidities Observed in a Group of Hearing Aid Users
Introduction Optimization of the selection, adaptation, and benefit of hearing aids is necessary to characterize and manage hearing loss, user expectations, otolaryngologic symptoms, and systemic comorbidities.
Objective To compare the occurrence of otologic complaints, systemic diseases, and effective us
Int. Arch. Otorhinolaryngol.. Publicado em: 2015
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11. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites pl
Genet. Mol. Biol.. Publicado em: 14/11/2014
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12. Important Factors in the Cognitive Development of Children with Hearing Impairment: Case Studies of Candidates for Cochlear Implants
Introduction The factors that affect the development of children with and without hearing disabilities are similar, provided their innate communication abilities are taken into account. Parents need to mourn the loss of the expected normally hearing child, and it is important that parents create bonds of affection with their child. Objective To conduct a
Int. Arch. Otorhinolaryngol.. Publicado em: 2014