{"id":142231,"date":"2026-03-19T19:36:46","date_gmt":"2026-03-19T19:36:46","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/alteraciones-del-metabolismo-purinico-en-la-distrofia-muscular-tipo-duchenne-dmd\/"},"modified":"2026-03-19T19:36:46","modified_gmt":"2026-03-19T19:36:46","slug":"alteraciones-del-metabolismo-purinico-en-la-distrofia-muscular-tipo-duchenne-dmd","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/alteraciones-del-metabolismo-purinico-en-la-distrofia-muscular-tipo-duchenne-dmd\/","title":{"rendered":"Alteraciones del metabolismo purinico en la distrofia muscular tipo duchenne (dmd)."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Cami\u00f1a Darriba Manuel Felix <\/strong><\/h2>\n<p>*** introduccion: la distrofia muscular tipo duchenne (dmd) es la enfermedad muscular con base genetica mas frecuente, con una incidencia de 1\/3000 varones nacidos vivos. Se manifiesta entre los 2-5 a\u00f1os de edad y se caracteriza por un deterioro progresivo de la capacidad motora del paciente, con muerte prematura en torno a los 17 a\u00f1os.  consiste en una degeneracion del tejido muscular estriado que es reemplazado por tejido conectivo y adiposo.  existen dos hipotesis sobre su patogenia: 1) una alteracion de la membrana de la miofibrilla y 2) un metabolism energetico comprometido. No existe una terapia adecuad.  *** objetivos: se pretende establecer si existe una alteracion del metabolismo de la carnitina y\/o de las purinas. Asimismo se evalua la eficacia terapeutica del alopurinol a largo plazo.  paralelamente se hace un estudio de deteccion de portadoras y se valora el perfil proteico en lcr y su posible asociacion con procesos neurodegenerativos.  *** resultados: en la deteccion de portadoras, la cpr es el parametro de mayor utilidad. No hemos observado relacion entre el perfil proteico de lcr y la presencia de procesos neurodegenerativos. La incidencia de atrofia cerebral en la dmd es muy baja. El tratamiento con alopurinol es efectivo a largo plazo que se deduce de una mejoria clinica en los pacientes con estado clinico inferior al iv y\/o menores de 7 a\u00f1os.  los resultados a nivel serico y muscular sugieren una degradacion acelerada de las purinas en esta patolog\u00eda.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Alteraciones del metabolismo purinico en la distrofia muscular tipo duchenne (dmd).<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Alteraciones del metabolismo purinico en la distrofia muscular tipo duchenne (dmd). <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Cami\u00f1a Darriba Manuel Felix <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1993<\/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>segade Villamar\u00edn Rodr\u00edguez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Germ\u00e1n Sierra Marcu\u00f1o <\/li>\n<li>Rafael Tojo Sierra (vocal)<\/li>\n<li>Raimundo Goberna Ortiz (vocal)<\/li>\n<li>Rafael Palencia Luaces (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Cami\u00f1a Darriba Manuel Felix *** introduccion: la distrofia muscular tipo duchenne (dmd) es la enfermedad muscular con [&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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