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dc.contributor.author | Carneiro-sousa, Pedro | |
dc.contributor.author | Gambôa, Inês | |
dc.contributor.author | Duarte, Delfim | |
dc.contributor.author | Trigueiros-cunha, Nuno | |
dc.date.accessioned | 2018-06-27T10:05:40Z | |
dc.date.available | 2018-06-27T10:05:40Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Revista ORL, 9 (2018) | |
dc.identifier.issn | 2444-7986 | |
dc.identifier.uri | http://hdl.handle.net/10366/137832 | |
dc.description.abstract | Introduction and objective: Hereditary causes are responsible for half of cases of sensorineural hearing loss in young people. MYH14 mutation is autosomal dominant. Description: A 33 years-old patient with moderate-to-severe sensorineural hearing loss. Genetic study revealed MYH14 mutation. Discussion: This is a case of post-lingual sensorineural deafness, compatible with autosomal dominant inheritance. MYH14 mutation seems to increase susceptibility to acoustic trauma, which may justify the late onset of hearing loss. Conclusions: MYH14 mutation is, probably, a cause for hearing loss. Genetic study has, therefore, a growing importance. | |
dc.description.abstract | Introducción y objetivo: Las causas hereditarias son responsables por mitad de los casos de hipoacusia neurosensorial en jóvenes. La mutación del gen MYH14 es autosómica dominante. Descripción: Paciente de 33 años con hipoacusia neurosensorial bilateral de moderada a severa. El estudio genético ha revelado mutación del MYH14. Discusión: Es un caso de sordera neurosensorial post-lingual, compatible con una herencia autosómica dominante. La mutación del MYH14 puede aumentar la susceptibilidad para el trauma acústico, justificando el aparecimiento tardío de la sordera. Conclusiones: La mutación del MYH14 es, probablemente, una causa de sordera. El estudio genético tiene, así, una creciente importancia. | |
dc.format.mimetype | application/pdf | |
dc.language.iso | spa | |
dc.publisher | Ediciones Universidad de Salamanca (España) | |
dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Unported | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/3.0/ | |
dc.subject | Otorrinolaringología | |
dc.subject | nariz | |
dc.subject | garganta | |
dc.subject | oídos | |
dc.subject | Audiología y otología | |
dc.subject | sordera | |
dc.subject | Otorhinolaryngology | |
dc.subject | ENT | |
dc.subject | Audiology and otology | |
dc.subject | deafness | |
dc.title | Sordera neurosensorial por mutación del gen MYH14. Descripción de un caso | |
dc.title | Sin título | |
dc.title.alternative | Sensorineural hearing loss caused by MYH14 gene mutation. A case report | |
dc.type | info:eu-repo/semantics/article | |
dc.rights.accessRights | info:eu-repo/semantics/openAccess |
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ORL, Vol.9, n.1 [14]