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1.
Laryngoscope ; 129(11): 2574-2579, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31633822

RESUMO

OBJECTIVE: To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA) associated with hearing loss. METHODS: In a cohort of 139 PS/NSEVA individuals, 115 persons from 95 unrelated families had full genetic sequencing of SLC26A4, and 113 had retrievable images for re-assessment of inner ear morphology. The association between the number of mutant alleles in SLC26A4, inner ear morphology (including endolymphatic sac size and protein content on magnetic resonance imaging), and hearing level (pure tone average) was explored. RESULTS: Biallelic SLC26A4 mutations (M2) occurred in three-quarters of the cohort and was invariably associated with poor hearing; in 87%, it was associated with incomplete partition type II of the cochlea as well as enlarged endolymphatic sac and vestibular aqueduct. M1 or M0 individuals exhibited a greater variability in inner ear morphology. Endolymphatic sac size and presence of "high-protein" sac contents were significantly higher in M2 individuals compared to M1 and M0 individuals. CONCLUSION: The number of SLC26A4 mutations is associated with severity and variability of inner ear morphology and hearing level in individuals with PS or NSEVA. M2 individuals have poorer hearing and present largely incomplete partition type II of the cochleas with enlarged endolymphatic sacs, whereas individuals with M1 and no detectable SLC26A4 mutations have less severe hearing loss and more diverse inner ear morphology. LEVEL OF EVIDENCE: 4. Laryngoscope, 129:2574-2579, 2019.


Assuntos
Bócio Nodular/genética , Perda Auditiva Neurossensorial/genética , Transportadores de Sulfato/genética , Aqueduto Vestibular/anormalidades , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Criança , Cóclea/patologia , Orelha Interna/patologia , Saco Endolinfático/patologia , Feminino , Bócio Nodular/patologia , Audição/genética , Perda Auditiva Neurossensorial/patologia , Testes Auditivos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Estudos Retrospectivos , Aqueduto Vestibular/patologia , Adulto Jovem
2.
Ugeskr Laeger ; 178(49)2016 Dec 05.
Artigo em Dinamarquês | MEDLINE | ID: mdl-27959263

RESUMO

Tuberous sclerosis complex (TSC) is an inherited disorder with a prevalence of 1/20,000. The diagnosis is based on clinical criteria and/or genetic testing. Most cases are found during childhood. Yet, the intra- and interfamiliar expressivity is variable, so the diagnosis should be considered in adults too. This is a case report about a 20-year-old female with an atypical presentation of TSC. The case highlights that TSC can be suspected in adults with a first-time seizure. The diagnosis is important because it leads to multidisciplinary follow-up.


Assuntos
Esclerose Tuberosa/diagnóstico , Anticonvulsivantes/uso terapêutico , Feminino , Humanos , Imageamento por Ressonância Magnética , Convulsões/tratamento farmacológico , Convulsões/etiologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico por imagem , Adulto Jovem
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