{"id":85563,"date":"2000-03-07T00:00:00","date_gmt":"2000-03-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-genetica-de-sorderas-sensorineurales\/"},"modified":"2000-03-07T00:00:00","modified_gmt":"2000-03-07T00:00:00","slug":"caracterizacion-genetica-de-sorderas-sensorineurales","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/caracterizacion-genetica-de-sorderas-sensorineurales\/","title":{"rendered":"Caracterizacion genetica de sorderas sensorineurales"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Beatriz Arellano Rodriguez <\/strong><\/h2>\n<p>Hasta hace pocos a\u00f1os un elevado porcentaje de hipacusias sensorialmente eran consideradas de origen desconocido. En los \u00faltimos a\u00f1os, gracias a los avances en gen\u00e9tica un porcentaje de aquellas p\u00e9rdidas auditivas idiop\u00e1ticas, pueden ser explicadas. Se considera que al menos un 50% de las hiupoacusias profundas tienen un origen gen\u00e9tico. De \u00e9stas el 30% aparecen asociadas a otras alteraciones, son las denominadas sindr\u00f3micas; por el contrario, en un 70% la \u00fanica manifestaci\u00f3n cl\u00ednica es la hipoacusa.  se ha realizado un estudio cl\u00ednico y gen\u00e9tico en pacientes con hipoacusia sensorineural con posible origen gen\u00e9tico, la investigaci\u00f3n se ha estructurado en tres grupos de estudio:  1, pacientes con hipoacusia sesorineural familiar.  2, pacientes con posible ototoxidad por diversos f\u00e1rmacos.  3, pacientes con diversas malformaciones de o\u00eddo internos ( displasia de mondini, dilataci\u00f3n de acueducto coclear y dilataci\u00f3n de acuerducto vestibular.  en todos los casos se realiza estudio cl\u00ednico que incluye; anamnesis, exploraci\u00f3n otorrinolaringol\u00f3gica, audiometr\u00eda y, en algunos casos estudio radiol\u00f3gico mediante resonancia nuclear y\/o tomograf\u00eda computadorizada, el estudio gen\u00e9tico realizado comprende; extracci\u00f3n del dna de sangre perif\u00e9rica. t\u00e9cnica pcr ( reacci\u00f3n en cadena de la p\u00f3limerasa), digesti\u00f3n del dna, electroforesis y secuenciaci\u00f3n. El estudio gen\u00e9tico se realiza dependiendo del marcador gen\u00e9tico que se pretenda buscar, que var\u00eda en funci\u00f3n del patr\u00f3n de herencia de la enfermedad o de la malformaci\u00f3n que presenta el paciente.  se ha estudiado un total de 173 individuos. En el 23% de las familias estudioas (n=26) se ha detectado la presencia de la mutaci\u00f3n mitocondrial a1555g, con patr\u00f3n de herencia materno. En una familia se ha demostrado ligamiento de la enfermedad a la regi\u00f3n xq21, donde se localiza el tipo de hipoacusia ligada al x denominada dfn3,  en el 2\u00c2\u00bagrupo (ototoxicidad) se h<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizacion genetica de sorderas sensorineurales<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizacion genetica de sorderas sensorineurales <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Beatriz Arellano Rodriguez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 03\/07\/2000<\/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>Rafael Ram\u00edrez Camacho<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: olivares ramos Jos\u00e9 Luis Castillo <\/li>\n<li>felipe Moreno herrero (vocal)<\/li>\n<li>joaqu\u00edn Poch broto (vocal)<\/li>\n<li>ignacio Cobeta marco (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Beatriz Arellano Rodriguez Hasta hace pocos a\u00f1os un elevado porcentaje de hipacusias sensorialmente eran consideradas de origen [&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":[155,9,11771],"tags":[180089,6060,31817,6732,180090,96876],"class_list":["post-85563","post","type-post","status-publish","format-standard","hentry","category-ciencias-clinicas","category-ciencias-medicas","category-genetica-clinica","tag-beatriz-arellano-rodriguez","tag-felipe-moreno-herrero","tag-ignacio-cobeta-marco","tag-joaquin-poch-broto","tag-olivares-ramos-jose-luis-castillo","tag-rafael-ramirez-camacho"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/85563","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=85563"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/85563\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=85563"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=85563"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=85563"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}