{"id":82519,"date":"2000-01-01T00:00:00","date_gmt":"2000-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-clinico-y-genetico-de-los-sindromes-de-neoplasia-endocrina-multiple-tipo-2-en-la-comunidad-autonoma-de-murcia\/"},"modified":"2000-01-01T00:00:00","modified_gmt":"2000-01-01T00:00:00","slug":"estudio-clinico-y-genetico-de-los-sindromes-de-neoplasia-endocrina-multiple-tipo-2-en-la-comunidad-autonoma-de-murcia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-clinico-y-genetico-de-los-sindromes-de-neoplasia-endocrina-multiple-tipo-2-en-la-comunidad-autonoma-de-murcia\/","title":{"rendered":"Estudio clinico y genetico de los sindromes de neoplasia endocrina multiple tipo 2 en la comunidad autonoma de murcia."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Francisco Jose Pomares Gomez <\/strong><\/h2>\n<p>Los s\u00edndromes de neoplasia endocrina m\u00faltiple tipo 2 (men 2) se caracterizan por la presentaci\u00f3n familiar de carcinoma medular de tiroides. El pron\u00f3stico de estos pacientes depende, en gran medida, de la evoluci\u00f3n de este tumor, por ello se han realizado esfuerzos en dise\u00f1ar t\u00e9cnicas de diagn\u00f3stico precoz del mismo, hasta el extremo de determinar si los familiares de los sujetos afectados son portadores o no de mutaciones responsabilidad del s\u00edndrome, situadas en el protooncog\u00e9n ret.  hip\u00f3tesis: el an\u00e1lisis gen\u00e9tico de las mutaciones del protooncog\u00e9n ret en las familias men 2 de la comunidad de murcia permitir\u00eda la identificaci\u00f3n de los portadores de mutaciones de ret. Esta identificaci\u00f3n supondr\u00eda la identificaci\u00f3n de los portadores asintom\u00e1ticos en los estadios iniciales del carcinoma medular de tiroides y mejor\u00eda el pron\u00f3stico.  material y m\u00e9todos: se han estudiado 294 sujetos de 15 familias men 2. Las mutaciones de ret se hallaron mediante t\u00e9cnicas de polimorfismos conformacionales de cadenas sencillas o electroforesis en gel de gradiente desnaturalizante, como t\u00e9cnicas de despistaje inicial, y posterior confirmaci\u00f3n con an\u00e1lisis de restricci\u00f3n o secuenciaci\u00f3n de adn. Se ha estudiado la epidemiolog\u00eda, el fenotipo, las caracter\u00edsticas cl\u00ednicas, de laboratorio e histopatol\u00f3gicas dependientes del s\u00edndeome, as\u00ed como su posible influencia sobre la recidiva tumoral o el fallecimiento por esta causa.  conclusiones:  1.- Las mutaciones men 2a han sido tgc 634 tac y tgc 634 cgc; como men 2b, atg 918 acg.  2.- El an\u00e1lisis gen\u00e9tico de las mutaciones de ret en las familias men 2 de la comunidad de murcia permite realizar el diagn\u00f3stico precoz del s\u00edndrome en estas familias.  3.- La preValencia del alelo mutado de ret es de 8:100000 habitantes.  4.- Las poblaciones en las que se localizan los pacientes men 2 son, de mayor a menor preValencia: beniel, yecla, jumilla, molina de segura, alhama d<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio clinico y genetico de los sindromes de neoplasia endocrina multiple tipo 2 en la comunidad autonoma de murcia.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio clinico y genetico de los sindromes de neoplasia endocrina multiple tipo 2 en la comunidad autonoma de murcia. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Francisco Jose Pomares Gomez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Murcia<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/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> Tebar Masso Francisco Javier<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio  Miguel (secretario) Hernandez Martinez <\/li>\n<li> De leiva hidalgo Alberto (vocal)<\/li>\n<li>xavier Matias-guiu guia (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 Francisco Jose Pomares Gomez Los s\u00edndromes de neoplasia endocrina m\u00faltiple tipo 2 (men 2) se caracterizan por [&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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