{"id":15025,"date":"2002-08-01T00:00:00","date_gmt":"2002-08-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/valor-del-analisis-del-proto-oncogen-ret-en-el-diagnostico-y-tratamiento-del-sa%c2%adndrome-de-neoplasia-endocrina-multiple-tipo-2-a\/"},"modified":"2002-08-01T00:00:00","modified_gmt":"2002-08-01T00:00:00","slug":"valor-del-analisis-del-proto-oncogen-ret-en-el-diagnostico-y-tratamiento-del-sa%c2%adndrome-de-neoplasia-endocrina-multiple-tipo-2-a","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/valor-del-analisis-del-proto-oncogen-ret-en-el-diagnostico-y-tratamiento-del-sa%c2%adndrome-de-neoplasia-endocrina-multiple-tipo-2-a\/","title":{"rendered":"Valor del an\u00e1lisis del proto-oncogen ret en el diagn\u00f3stico y tratamiento del s\u00edndrome de neoplasia endocrina m\u00faltiple tipo 2 a."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Rosario Ana Palasi Gimenez <\/strong><\/h2>\n<p>El s\u00edndrome de neoplasia endocrina m\u00faltiple tipo 2a, consiste en una asociaci\u00f3n de carcinoma medular de tiroides 100%, feocromocitoma 50%, hiperparatiroidismo 405, con herencia autos\u00f3mica dominante con penetrancia completa y expresividad variable.  los avances en biolog\u00eda molecular han podido localizar el responsable del s\u00edndrome men 2a en la regi\u00f3n pericentrom\u00e9rica del cromosoma 10, donde esta localizado el proto-oncogen ret. Las mutaciones cuasantes del s\u00edndrome ocurren en los residuos cisteina del dominio extracelular del mismo, en los codones: 609,611,618 y 620 del exon 10 y el cod\u00f3n 634 del exon 11.  material y m\u00e9todo  se ha incluido 100 pacientes pertenecientes a 8 familias con s\u00edndrome de neoplasia endocrina m\u00faltiple tipo 2a. De ellos, se han estudiado gen\u00e9ticamente 98 no siendo estudiados lo restante por ser exitus en el momento del estudio gen\u00e9tico.Se ha determinado la mutaci\u00f3n en el protooncogen ret por tres m\u00e9todos distintos (sscp, secuenciaci\u00f3n y digesti\u00f3n con enzimas de restricci\u00f3n).  resultados  se identificaron las mutaciones en el proto-oncogen ret en todas las familias encontr\u00e1ndose en las 8 familias localizadas en el codon 634 (exon 11) del proto-oncogen ret, siendo las mutaciones m\u00e1s frecuentes arginina y tirosina, segudias por serina y tript\u00f3fano.  se han analizado las diferentes patolog\u00edas que componen el s\u00edndrome correlacionando distintos factores en cuanto a diagn\u00f3stico, tratamiento, anatom\u00eda patol\u00f3gica y seguimiento y el tipo de diagn\u00f3stico (cl\u00ednico bioqu\u00edmico o gen\u00e9tico). Finalmente se ha intentado establecer una correlaci\u00f3n entre el genotipo y el fenotipo que presentaban los pacientes.  conclusiones  el estudio gen\u00e9tico permite un diagn\u00f3stico m\u00e1s precoz que el que se consigue mediante los estudios bioqu\u00edmicos de screening, presentando una sensibilidad y especificidad del 100%. Dada la correlaci\u00f3n entre los resultados del test gen\u00e9tico y la evidencia de la enfermedad<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Valor del an\u00e1lisis del proto-oncogen ret en el diagn\u00f3stico y tratamiento del s\u00edndrome de neoplasia endocrina m\u00faltiple tipo 2 a.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Valor del an\u00e1lisis del proto-oncogen ret en el diagn\u00f3stico y tratamiento del s\u00edndrome de neoplasia endocrina m\u00faltiple tipo 2 a. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Rosario Ana Palasi Gimenez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 08\/01\/2002<\/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> Ponce Marco Jos\u00e9 Luis<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Balibera cantero Jos\u00e9 Luis <\/li>\n<li>Francisco Mart\u00ednez castellano (vocal)<\/li>\n<li> Girb\u00e9s borr\u00e1s Juan  adrian (vocal)<\/li>\n<li>Mar\u00eda no Moreno axoita (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Rosario Ana Palasi Gimenez El s\u00edndrome de neoplasia endocrina m\u00faltiple tipo 2a, consiste en una asociaci\u00f3n de [&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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