{"id":83101,"date":"2018-03-10T00:07:10","date_gmt":"2018-03-10T00:07:10","guid":{"rendered":""},"modified":"2018-03-10T00:07:10","modified_gmt":"2018-03-10T00:07:10","slug":"evaluacion-clinica-bioqua%c2%admica-genetica-y-estudio-de-imagen-de-los-sindromes-de-neoplasia-endocrina-multiple-men1-men2-y-enfermedad-de-von-hippel-lindau-nuevos-avances-en-el-diagnostico-y-co","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/evaluacion-clinica-bioqua%c2%admica-genetica-y-estudio-de-imagen-de-los-sindromes-de-neoplasia-endocrina-multiple-men1-men2-y-enfermedad-de-von-hippel-lindau-nuevos-avances-en-el-diagnostico-y-co\/","title":{"rendered":"Evaluaci\u00f3n clinica, bioqu\u00edmica, gen\u00e9tica y estudio de imagen de los sindromes de neoplasia endocrina multiple: men1, men2 y enfermedad de von hippel-lindau. nuevos avances en el diagnostico y control clinico."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Chicho Ballesteros Ana Isabel <\/strong><\/h2>\n<p>Introducci\u00f3n  los s\u00edndromes de neoplasia endocrina m\u00faltiple son enfermedades hereditarias que asociantumores en diferentes gl\u00e1ndulas endocrinas.Seg\u00fan las gl\u00e1ndulas afectas se subdividen en men1 y men2 y otros, como la enfermedad de von hippel-lindau (vhl). Mutaciones en los genes responsables, pueden detectarse en las familias afectas.La ausencia de medidas preventivas hace que el diagn\u00f3stico y tratamiento precoces sean el principal objetivo asistencial.  objetivos  1,- caracterizar genot\u00edpicamente mediante an\u00e1lisis mutacional del gen responsable correspondiente y fenot\u00edpicamente a un grupo de 7 familias con men1, con men2a y 1 con vhl (total de 101 sujetos analizados).  2,- evaluar la eficacia de la gammagraf\u00eda con 111 in-octreotide en la localizaci\u00f3n de tumores neuroendocrinos gastroenterpancre\u00e1ticos tgep en sujetos con men1 y vhl y de recidivas de carcinoma medular de tiroiedes cmt en sujetos con men2a.  3,- dise\u00f1ar una prueba de est\u00edmulo de gastrina y polip\u00e9ptido pancre\u00e1tico (pp) tras un desayuno obteniendo valores de referencia en poblaci\u00f3n control sana.  4,- evaluar la eficacia de esta prueba en el diagn\u00f3stico precoz de tgep.  resultados  1,- se encontraron las mutaciones responsables de la enfermedad en todas las familias estudiadas,excepto, una detectando un total de 43 sujetos portadores.3 de las mutaciones no hab\u00edan sido descritas previamente. Cl\u00ednicamente destac\u00f3la nula incidencia de hiperparatiroidismo primario y la presenica de 2 casos de liquen cut\u00e1neo amiloid\u00f3tico, en la familia con men2a estuidad. en la familia convhl destac\u00f3 la elevada incidencia de feocromocitoma sy de tgep. En las familias conmen1 destac\u00f3 la baja incidencia de tgep,la mayor incidencia de tumores adrenales y la presencia de tumores hipofisarios como 1\u00aa manifestaci\u00f3n de la enfermedad.  2,- la gammagraf\u00eda con 111in-octreotide demostr\u00f3 ser de utilidad en la localizaci\u00f3n de tgep, pero no en la de recidivas de cmt.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Evaluaci\u00f3n clinica, bioqu\u00edmica, gen\u00e9tica y estudio de imagen de los sindromes de neoplasia endocrina multiple: men1, men2 y enfermedad de von hippel-lindau. nuevos avances en el diagnostico y control clinico.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Evaluaci\u00f3n clinica, bioqu\u00edmica, gen\u00e9tica y estudio de imagen de los sindromes de neoplasia endocrina multiple: men1, men2 y enfermedad de von hippel-lindau. nuevos avances en el diagnostico y control clinico. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Chicho Ballesteros Ana Isabel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 25\/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> Leiva Hidalgo Alberto De<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jaime Prat d\u00edaz de losada <\/li>\n<li>xavier Mat\u00edas-guiv guia (vocal)<\/li>\n<li> Terar mass\u00f3 Francisco j. (vocal)<\/li>\n<li>eduardo Faure nogueras (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Chicho Ballesteros Ana Isabel Introducci\u00f3n los s\u00edndromes de neoplasia endocrina m\u00faltiple son enfermedades hereditarias que asociantumores en [&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":[155,9,346,851,11771,139,384],"tags":[176283,18321,29505,13645,176285,176284],"class_list":["post-83101","post","type-post","status-publish","format-standard","hentry","category-ciencias-clinicas","category-ciencias-medicas","category-diagnostico-por-imagen","category-endocrinologia","category-genetica-clinica","category-medicina-interna","category-patologia-clinica","tag-chicho-ballesteros-ana-isabel","tag-eduardo-faure-nogueras","tag-jaime-prat-diaz-de-losada","tag-leiva-hidalgo-alberto-de","tag-terar-masso-francisco-j","tag-xavier-matias-guiv-guia"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83101","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=83101"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83101\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=83101"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=83101"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=83101"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}