{"id":25262,"date":"2003-10-09T00:00:00","date_gmt":"2003-10-09T00:00:00","guid":{"rendered":""},"modified":"2003-10-09T00:00:00","modified_gmt":"2003-10-09T00:00:00","slug":"influencia-de-los-factores-exogenos-y-de-las-mutaciones-del-receptor-de-las-lipoprotea%c2%adnas-de-baja-densidad-sobre-la-respuesta-terapeutica-a-estatinas-en-la-hipercolesterolemia-familiar-heterocig","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/influencia-de-los-factores-exogenos-y-de-las-mutaciones-del-receptor-de-las-lipoprotea%c2%adnas-de-baja-densidad-sobre-la-respuesta-terapeutica-a-estatinas-en-la-hipercolesterolemia-familiar-heterocig\/","title":{"rendered":"Influencia de los factores ex\u00f3genos y de las mutaciones del receptor de las lipoprote\u00ednas de baja densidad sobre la respuesta terap\u00e9utica a estatinas en la hipercolesterolemia familiar heterocigota"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Civera Andr\u00e9s <\/strong><\/h2>\n<p>Introducci\u00f3n  la hipercolesterolemia familiar (hf) se caracteriza por una gran variabilidad en su expresividad cl\u00ednica y en la respuesta terap\u00e9utica a estatinas. Diferentes factores ambientales y gen\u00e9ticos parecen influir sobre dicha variabilidad. en poblaciones mediterr\u00e1neas del sur de europa caracterizadas por una gran heterogeneidad gen\u00e9tica no se han hecho estudios al respecto.  objetivos  conocer la influencia del tipo de mutaci\u00f3n del gen del receptor ldl (r-ldl) y del grado y tipo de obesidad en el fenotipo lipoproteico y la respuesta terap\u00e9utica a estatinas.  material y m\u00e9todos  pacietnes entre 18 y 65 a\u00f1os con diagn\u00f3stico cl\u00ednico y confirmaci\u00f3n gen\u00e9tica de hf. Determinaci\u00f3n de par\u00e1metros antropom\u00e9tricos y medici\u00f3n de par\u00e1metros bioqu\u00edmicos seg\u00fan m\u00e9todos estadarizados. Diagn\u00f3stico gen\u00e9tico seg\u00fan un protocolo estandarizado (1\u00c2\u00ba despistaje de mutaciones del gen de la apob, 2\u00c2\u00ba cribado de grandes reordenamientos del gen del r-ldl (southern blot), 3\u00c2\u00ba detecci\u00f3n de peque\u00f1as mutaciones (pcr-sscp+secuenciaci\u00f3n). Dise\u00f1o: estudios intervenci\u00f3n no controlados.  resultados y discusi\u00f3n  las mutaciones nulas del gen del r-ldl se acompa\u00f1an de menor respuesta a estatinas y menores niveles de chdl en situaci\u00f3n basal y postratamiento con dichos f\u00e1rmacos. Probablemente las mutaciones defectuosas conserven cierta funcionalidad cuando son sobreexpresadas. Respecto al chdl, los menores niveles en portadores de mutaciones nulas pueden ser atribuibles a la disminuci\u00f3n en el aclaramiento de part\u00edculas remanentes. Las mujeres con mayor dep\u00f3sito de grasa abdominal presentan niveles m\u00e1s elevados de tg en situaci\u00f3n basal y tras tratamiento y un menor descenso de cldl tras tratamiento con estatinas, atribuible a hiperproducci\u00f3n de part\u00edculas vldl y menor aclaramiento de part\u00edculas remanentes.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Influencia de los factores ex\u00f3genos y de las mutaciones del receptor de las lipoprote\u00ednas de baja densidad sobre la respuesta terap\u00e9utica a estatinas en la hipercolesterolemia familiar heterocigota<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Influencia de los factores ex\u00f3genos y de las mutaciones del receptor de las lipoprote\u00ednas de baja densidad sobre la respuesta terap\u00e9utica a estatinas en la hipercolesterolemia familiar heterocigota <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Civera Andr\u00e9s <\/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 10\/09\/2003<\/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>Rafael Carmena Rodriguez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: manuel Oya otero <\/li>\n<li>Luis Masana Mar\u00eda (vocal)<\/li>\n<li>celestino Roy-joli barroso (vocal)<\/li>\n<li>Carlos S\u00e1nchez Juan (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miguel Civera Andr\u00e9s Introducci\u00f3n la hipercolesterolemia familiar (hf) se caracteriza por una gran variabilidad en su expresividad [&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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