{"id":60572,"date":"2018-03-09T22:48:25","date_gmt":"2018-03-09T22:48:25","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-cla%c2%adnico-y-genetico-de-pacientes-con-hipoacusia-neurosensorial-no-sindromica-en-cantabria\/"},"modified":"2018-03-09T22:48:25","modified_gmt":"2018-03-09T22:48:25","slug":"estudio-cla%c2%adnico-y-genetico-de-pacientes-con-hipoacusia-neurosensorial-no-sindromica-en-cantabria","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-cla%c2%adnico-y-genetico-de-pacientes-con-hipoacusia-neurosensorial-no-sindromica-en-cantabria\/","title":{"rendered":"Estudio cl\u00ednico y gen\u00e9tico de pacientes con hipoacusia neurosensorial no sindr\u00f3mica en cantabria"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jaime Gallo Teran <\/strong><\/h2>\n<p>La hipoacusia es el d\u00e9fict sensorial m\u00e1s frecuente en humanos. En una proporci\u00f3n importante de los casos es debida factores gen\u00e9ticos. sobre 388 individuos pertenecientes a 172 familias con hipoacusia neurosensorial no sindr\u00f3mica procedentes de la comunidad aut\u00f3noma de cantabria, se ha realizado una b\u00fasqueda de mutaciones en genes responsables de hipoacusia y se han analizado las caracter\u00edsticas de la p\u00e9rdida auditiva.  se ha encontrado una preValencia de la mutaci\u00f3n 1555a mayor g en el adn mitocondrial del 14,0% entre los casos familiares de hipoacusia. Entre los casos de herencia autos\u00f3mica recesiva se han encontrado mutaciones bial\u00e9licas en el locus dfnb1 (genes gjb2 y gjb6) con una preValencia del 8,2%, la mutaci\u00f3n q829x en el gen otof en homocigosis con una preValencia del 2,0% y la mutaci\u00f3n 207 delc en el gen tmprss3 en homocigosis con una preValencia del 1,0%. Se ha encontrado una nueva mutaci\u00f3n en el gen actg1 en una familia, que supone una preValencia del 2,2% entre los casos de herencia autos\u00f3mica dominante. Los individuos portadores de la mutaci\u00f3n 155a mayor g y de mutaciones en los genes gjb2 y gjb6 muestran una gran variabilidad en el grado de hipoacusia. Las mutaciones en los genes otof y tmprss3 producen hipoacusias profundas de inicio prelocutivo. La mutaci\u00f3n q829x en el gen otof es responsable de neuropat\u00eda auditiva. En los individuos portadores de la mutaci\u00f3n 155a mayor g el d\u00e9ficit auditivo es mayor en presencia de exposici\u00f3n a antibi\u00f3ticos aminogluc\u00f3sidos.  en los individuos portadores de mutaciones en los genes gjb2 y gjb6, las mutaciones truncantes se asocian a p\u00e9rdidas auditivas m\u00e1s intensas que las no truncantes. Las familias portadoras de la mutaci\u00f3n 155a mayor g presentan al menos cuatro or\u00edgenes diferentes en nuestra poblaci\u00f3n. Las dos familias portadoras de la mutaci\u00f3n q829x presentan un origen com\u00fan.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio cl\u00ednico y gen\u00e9tico de pacientes con hipoacusia neurosensorial no sindr\u00f3mica en cantabria<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio cl\u00ednico y gen\u00e9tico de pacientes con hipoacusia neurosensorial no sindr\u00f3mica en cantabria <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jaime Gallo Teran <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Cantabria<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/09\/2007<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Julio Rama Quintela<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Fernando Val Bernal <\/li>\n<li>Miquel Quer Agust\u00ed (vocal)<\/li>\n<li>Jos\u00e9 Luis Fernandez Luna (vocal)<\/li>\n<li>Javier Gavil\u00e1n Bouzas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jaime Gallo Teran La hipoacusia es el d\u00e9fict sensorial m\u00e1s frecuente en humanos. En una proporci\u00f3n importante [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[36483,10518,155,9,962],"tags":[133771,29978,10583,26339,18081,85240],"class_list":["post-60572","post","type-post","status-publish","format-standard","hentry","category-biologia-molecular","category-cantabria","category-ciencias-clinicas","category-ciencias-medicas","category-genetica","tag-jaime-gallo-teran","tag-javier-gavilan-bouzas","tag-jose-fernando-val-bernal","tag-jose-luis-fernandez-luna","tag-julio-rama-quintela","tag-miquel-quer-agusti"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/60572","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=60572"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/60572\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=60572"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=60572"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=60572"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}