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J Int Adv Otol ; 15(2): 296-303, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31347509

RESUMO

OBJECTIVES: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Sensorineural hearing loss (SNHL) is the most frequent symptom in individuals harboring the m.3243A>G mutation. However, dysfunction of the vestibular organs has been scarcely examined. Therefore, the present study aimed to study the impact of the m.3243A>G mutation on the inner ear. MATERIALS AND METHODS: A total of 8 subjects harboring the blood-verified m.3243A>G mutation underwent thorough audiological and vestibular examinations, including tone and speech audiometry, video head impulse test (vHIT), ocular and cervical vestibular-evoked myogenic potential (oVEMP and cVEMP), and full otoneurological examination. The subjects also answered a Dizziness Handicap Inventory (DHI) questionnaire. RESULTS: SNHL was identified in all the 8 subjects, with a mean pure-tone average-4 (PTA-4) of 59 dB. Speech discrimination score (n=7) ranged from 24% to 100% (mean 74%), and vHIT (n=42) detected pathology in nine lateral semicircular canals (SCCs), five posterior SCCs, and one anterior SCC, whereas three measurements were inconclusive. All oVEMPs (n=14 ears) were absent, nine cVEMPs were absent, and two were inconclusive. Based on the DHI scores, 6 subjects reported none to mild dizziness, 1 reported moderate, and 1 reported severe dizziness. CONCLUSION: Our study population had pathological findings from every audiological and vestibular end organs. The results indicated that the pathological findings originated from within the end organs themselves and not within the superior and inferior vestibular or cochlear nerve.


Assuntos
Perda Auditiva Neurossensorial/fisiopatologia , Síndrome MELAS/fisiopatologia , Idoso , Audiometria de Tons Puros , Audiometria da Fala , Tontura/etiologia , Tontura/fisiopatologia , Feminino , Teste do Impulso da Cabeça , Humanos , Doenças do Labirinto/etiologia , Doenças do Labirinto/fisiopatologia , Síndrome MELAS/genética , Masculino , Pessoa de Meia-Idade , Mutação Puntual/genética , Movimentos Sacádicos/fisiologia , Percepção da Fala/fisiologia , Potenciais Evocados Miogênicos Vestibulares/fisiologia , Vestíbulo do Labirinto/fisiologia
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