{"id":29616,"date":"2018-03-09T09:22:49","date_gmt":"2018-03-09T09:22:49","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-clinico-y-molecular-de-la-poliposis-adenomatosa-familiar-clasica-en-poblacion-espanola\/"},"modified":"2018-03-09T09:22:49","modified_gmt":"2018-03-09T09:22:49","slug":"estudio-clinico-y-molecular-de-la-poliposis-adenomatosa-familiar-clasica-en-poblacion-espanola","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/alcala\/estudio-clinico-y-molecular-de-la-poliposis-adenomatosa-familiar-clasica-en-poblacion-espanola\/","title":{"rendered":"Estudio clinico y molecular de la poliposis adenomatosa familiar clasica en poblacion espa\u00f1ola."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Angel Miguel Alonso Sanchez <\/strong><\/h2>\n<p>Antecedentes:  la poliposis adenomatosa familiar (fap) es una predisposici\u00f3n gen\u00e9tica a la aparici\u00f3n de cientos a miles de adenomas en el intestino grueso de pacientes en los que la probabilidad de malignizaci\u00f3n es cercana al 100%. la fap exhibe adem\u00e1s una serie de manifestaciones extracol\u00f3nicas como, poliposis gastrointestinal, hipertrofia cong\u00e9nita del epitelio pigmentario de la retina, tumores desmoides, osteomas y quistes odontog\u00e9icos y otros tumores extraintestinales que completan su espectro cl\u00ednico. Mayoritariamente est\u00e1 causada por mutaciones germinales en el gen apc, de modo que la identificaci\u00f3n presintom\u00e1tica de estas mutaciones permite el establecimiento de relaciones genotipo-fenotipo y el dise\u00f1o de medidas de prevenci\u00f3n y tratamiento profil\u00e1ctico que evitan la aparici\u00f3n del c\u00e1ncer colorrectal  y aumentan la supervivencia de los sujetos en riesgo.  objetivos:  1.- Definir las caracter\u00edsticas cl\u00ednicas y moleculares de la fap. 2.- Dise\u00f1ar un test gen\u00e9tico de screening de mutaciones en apc. 3.- Establecer relaciones genotipo-fenotipo. 4.- Evaluar la eficacia del estudio de mutaciones en apc para prevenir el c\u00e1ncer colorrectal en la fap.  material y m\u00e9todos:  informaci\u00f3n cl\u00ednica de 405 individuos, 214 afectos y 191 sujetos en riesgo pertenecientes a 101 familias espa\u00f1olas con fap cl\u00e1sica. Despistaje de mutaciones del gen apc mediante t\u00e9cnica de an\u00e1lisis de heteroduplex en 50% de regi\u00f3n codificante o en regiones recurrentes.  resultados m\u00e1s relevantes y conclusiones:  el n\u00famero de adenomas del colon se asocia con una menor edad al diagn\u00f3stico de fap, m\u00e1s alta incidencia y debut m\u00e1s precoz del c\u00e1ncer, y una edad de fallecimiento m\u00e1s prematura. La probabilidad de desarrollar c\u00e1ncer colorrectal en la fap se asocia con una edad de diagnostico: p (probabilidad de presentar c\u00e1ncer)= 1\/1+ e -(-2,852+0,06x edad de diagn\u00f3stico) y de intervenci\u00f3n quir\u00fargica m\u00e1s tard\u00edas: p (probabilidad d<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio clinico y molecular de la poliposis adenomatosa familiar clasica en poblacion espa\u00f1ola.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio clinico y molecular de la poliposis adenomatosa familiar clasica en poblacion espa\u00f1ola. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Angel Miguel Alonso Sanchez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Alcal\u00e1<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/04\/2004<\/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>Carlos San Roman Cos Gayon<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: pedro Carda abella <\/li>\n<li>Javier Ben\u00edtez ortiz (vocal)<\/li>\n<li>Jos\u00e9 Miguel Garcia sagredo (vocal)<\/li>\n<li>alex Kartheuser (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Angel Miguel Alonso Sanchez Antecedentes: la poliposis adenomatosa familiar (fap) es una predisposici\u00f3n gen\u00e9tica a la aparici\u00f3n [&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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