{"id":106811,"date":"2018-03-11T10:30:53","date_gmt":"2018-03-11T10:30:53","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-aplicada-a-la-cla%c2%adnica-neurovascular\/"},"modified":"2018-03-11T10:30:53","modified_gmt":"2018-03-11T10:30:53","slug":"genetica-aplicada-a-la-cla%c2%adnica-neurovascular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/neurologia\/genetica-aplicada-a-la-cla%c2%adnica-neurovascular\/","title":{"rendered":"Gen\u00e9tica aplicada a la cl\u00ednica neurovascular"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Alberto Del R\u00edo <\/strong><\/h2>\n<p>En esta tesis doctoral se describen los resultados del estudio farmacogen\u00e9tico geno-tpa, en el que se analiz\u00f3 el papel de centenares de polimorfismos (snps) en la respuesta al tratamiento trombol\u00edtico del ictus isqu\u00e9mico: recanalizaci\u00f3n arterial una hora despu\u00e9s de la infusi\u00f3n, reoclusi\u00f3n arterial tras haber recanalizado, aparici\u00f3n de transformaci\u00f3n hemorr\u00e1gica iatrog\u00e9nica y mortalidad intrahospitalaria.  los resultados fueron confirmados en otra cohorte independiente, siempre y cuando la variable de estudio pudiese ser determinada. Se generaron modelos predictivos con los datos gen\u00e9ticos y cl\u00ednicos, que fueron validados en series cl\u00ednicas independientes.  adem\u00e1s, se realizaron estudios funcionales con los polimorfismos asociados para determinar el mecanismo mediante el cual se asociaban con la variable cl\u00ednica de estudio. Estos ensayos incluyeron rt-qpcr, western blot, elisa, nefelometr\u00eda, pruebas de coagulaci\u00f3n o arrays de prote\u00ednas searchlight.  por \u00faltimo, se secuenci\u00f3 la regi\u00f3n en desequilibrio de ligamiento con los mejores marcadores para determinar si se hallaba otra variante funcional a\u00fan m\u00e1s asociada al fenotipo cl\u00ednico que la inclu\u00edda en el an\u00e1lisis inicial.  paralelamente, se implementaron protocolos de diagn\u00f3stico gen\u00e9tico para las enfermedades monog\u00e9nicas causantes de ictus cadasil y carasil. Estas patolog\u00edas se caracterizan por presentar infartos lacunares repetitivos de inicio tard\u00edo que conducen a la demencia vascular y la muerte.  as\u00ed, describimos 2 nuevas mutaciones causantes de cadasil en nuestra poblaci\u00f3n, situadas en el ex\u00f3n 7 y 23 de notch3, localizaciones infrecuentes en el espectro de la enfermedad. Paralelamente, describimos el primer caso de carasil en poblacion cauc\u00e1sica por mutaci\u00f3n en el ex\u00f3n 4 del gen htra1, siendo recomendable su inclusi\u00f3n en el diagn\u00f3stico diferencial de las enfermedades de peque\u00f1o vaso si el paciente presenta da\u00f1os cerebrales, calvicie temprana y lesiones en la espalda.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Gen\u00e9tica aplicada a la cl\u00ednica neurovascular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Gen\u00e9tica aplicada a la cl\u00ednica neurovascular <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Alberto Del R\u00edo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/02\/2011<\/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>Israel Fern\u00e1ndez Cadenas<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: miquel Vilardell tarres <\/li>\n<li>vincent Thijs (vocal)<\/li>\n<li>  (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Alberto Del R\u00edo En esta tesis doctoral se describen los resultados del estudio farmacogen\u00e9tico geno-tpa, en el [&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 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