Association between A1555G mutation of MTRNR1 gen and othosclerosis in the same family: Diferenttial diagnosis with cochlear otosclerosis

[ES] Introducción y objetivo: La mutaciónn A1555G del gen MTRNR1 ADN mitocondrial es responsable de hipoacusia neurosensorial que se acentúa con la exposición a aminoglucósidos. La otosclerosis es frecuente en nuestro medio. Algunos pacientes con otosclerosis presentan afectación severa de oído interno. Se describe una familia con mutación A1555G asociada a otosclerosis, lo que hizo sospechar inicialmente la presencia de una otosclerosis coclear. Material y método: Diez miembros de una misma familia, varios de ellos con hipoacusia subjetiva, en algunos casos desencadenada por aminoglucósidos, fueron incluidos en nuestro estudio. Se les realizó un estudio genético para descartar las mutaciones más frecuentes en la población española. Resultados: Todos ellos eran portadores de la mutación A1555G del gen MTRNR1 del ADN mitocondrial en homoplasmia. Tres tenían una audiometría tonal normal. Del resto, 4 tenía una hipoacusia neurosensorial con predominio para altas frecuencias y los otros 3 una hipoacusia mixta sugestiva de otosclerosis. La TC fue normal en todos los pacientes incluyendo los que presentaban una hipoacusia mixta. Dos pacientes fueron sometidos a un implante coclear. Discusión: La TC nos ayuda a diferenciar a los pacientes que presentan una otosclerosis coclear de aquellos que presentan una otosclerosis de oído medio y otra patología diferente asociada como en la familia estudiada por nosotros, que presentaba la mutación Al555G del ADN mitocondrial, lo cual es importante ya que los pacientes con la mutación A1555G, además de ser susceptibles al efecto ototóxico de los aminoglucósidos, en caso que presenten sordera severa o profunda y precisen un implante coclear, no presentan alteraciones anatómicas que hagan más complejo el mismo. Conclusiones: En pacientes con sospecha de otosclerosis coclear, y antecedentes por vía materna de hipoacusia , que presentan un TC del hueso temporal normal se debe descartar la presencia de la mutación A1555G del gen MTRNR1 del ADN mitocondrial. [EN] Introduction and objective: The A1555G mitochondrial DNA mutation of the MTRNR1 gene is responsible for sensorineural hearing loss that is accentuated with exposure to aminoglycosides. Otosclerosis is common in our environment. Some patients with otosclerosis have severe impairment of the inner ear. We report a family that had association of otosclerosis and the A1555G mutation that initially were confused with the presence of a cochlear otosclerosis. Method:Ten members of a family with hearing loss, in several of them triggered by aminoglycosides exposition, were included in our study. A clinical and genetic study to rule out the most common mutations involve in hearing loss in Spanish population was carried out. Results: All of them were carriers of the A1555G mutation in homoplasmy. Three had normal audiometry test. Of the remainder, 4 had sensorineural hearing loss for high frequencies and the other 3 had mixed hearing loss that suggesed the presence of otosclerosis. A CT scan of the temporal bone was normal in those three patients. Two patients were treated with a cochlear implant. Discussion: CT is a help to get the difference between cochlear otosclerosis, middle ear otosclerosis and A1555G mutation, and that is very important because people who have this mutation is susceptible to aminoglycoside ototoxicity and besides if they have a severe deafness, the treatment could be a cochlear implant if there are not anatomical abnormalities. Conclusions: In patients with suspected cochlear otosclerosis and maternally history of hearing loss, with a normal CT scan of the temporal bone, the presence of the A1555G mitochondrial DNA mutation should be rudes out

Assessment of elemental composition in commercial fish of the Bay of Cádiz, Southern Iberian Peninsula

The assessment of trace metal content in our fish diet is important due to the adverse effect on human health. Despite the increasing interest about the fish quality, little information is available for Southern Spain, a region characterized by high seafood intake. Nine species from the Bay of Cádiz with high commercial value were selected. Similar values were measured in the nine studied species for most of the elements, except for the macroelements Ca and S, and the microelements Fe, Mn and As, which showed significant differences among species. Metal Pollution Index (MPI) did not differ among species, and it was similar to those obtained for other Atlantic and Mediterranean locations. The values measured for the nine species were below the health limits provided by World, European and Spanish legislations, indicating that, in general terms, consumption of these species is safe in the study area.9 página

Assessment of elemental composition in commercial fish of the Bay of Cádiz, Southern Iberian Peninsula

The assessment of trace metal content in our fish diet is important due to the adverse effect on human health. Despite the increasing interest about the fish quality, little information is available for Southern Spain, a region characterized by high seafood intake. Nine species from the Bay of Cádiz with high commercial value were selected. Similar values were measured in the nine studied species for most of the elements, except for the macroelements Ca and S, and the microelements Fe, Mn and As, which showed significant differences among species. Metal Pollution Index (MPI) did not differ among species, and it was similar to those obtained for other Atlantic and Mediterranean locations. The values measured for the nine species were below the health limits provided by World, European and Spanish legislations, indicating that, in general terms, consumption of these species is safe in the study area.We are very grateful to Dr. P. Burgos for chemical analysis conducted in IRNAS-CSIC (Instituto de Recursos Naturales y Agrobiología, Consejo Superior de Investigaciones Científicas, Sevilla). During the study, ID-A enjoyed a grant "Margarita Salas" financed by the European Union (Next Generation EU) and the Ministerio de Universidades of Spain

Sensoryneural hearing loss with predominantly fall in 2000Hz secondary to connexin 26 gene mutation

[ES] Las mutaciones en el gen de la conexina 26 dan lugar a hipoacusia neurosensorial prelocutiva de inicio en la infancia, habitualmente de carácter severo/profundo, aunque se han descrito hipoacusias leves o moderadas con algunas mutaciones.Se describe el caso clínico de una niña con una hipoacusia con caída predominantemente en 2000Hz que presentaba una mutación bialélica del gen de la conexina 26 (M34T/N206S). Tras una revisión de la literatura y los hallazgos del caso descrito podemos concluir que los pacientes con hipoacusia neurosensorial prelocutiva con predominio en la frecuencia 2000 Hz precisan descartar la presencia de mutaciones en el gen de la conexina 26, concretamente la mutación M34T. [EN] Mutations in the connexin 26 gene result in prelocutive sensorineural hearing loss beginning in childhood, usually severe or profound, although it have been reported slight to moderate hearing loss with some mutations. We present the case of a girl who had a hearing loss with predominantly fall in 2000Hz presenting a biallelic mutation in the connexin 26 gene (M34T/N206S). After a review of the findings of our case and in the medical literature we can conclude that patients with prelocutive sensorineural hearing loss in the frequency 2000 Hz require to rule out mutations in the connexin 26 gene like the M34T

Profundización en metodologías y espacios docentes innovadores

Fac. de FilologíaFALSEsubmitte

Meeting Point: methods and spaces for the flipped classroom

Desarrollo de programas formativos centrados en los estudiantes gracias a la mejora de la calidad de los recursos materiales y del personal docente e investigador.Vicerrectorado de CalidadFac. de FilologíaFALSEsubmitte