{"id":29208,"date":"2018-03-09T09:22:14","date_gmt":"2018-03-09T09:22:14","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/distrofinopata%c2%adas-correlaciones-cla%c2%adnicas-histologicas-inmunohistoqua%c2%admicas-y-geneticas\/"},"modified":"2018-03-09T09:22:14","modified_gmt":"2018-03-09T09:22:14","slug":"distrofinopata%c2%adas-correlaciones-cla%c2%adnicas-histologicas-inmunohistoqua%c2%admicas-y-geneticas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/distrofinopata%c2%adas-correlaciones-cla%c2%adnicas-histologicas-inmunohistoqua%c2%admicas-y-geneticas\/","title":{"rendered":"Distrofinopat\u00edas: correlaciones cl\u00ednicas, histol\u00f3gicas, inmunohistoqu\u00edmicas y gen\u00e9ticas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Irene Garc\u00eda Morales <\/strong><\/h2>\n<p>El t\u00e9rmino distrofia muscular hace referencia a una enfermedad progresiva e incapacitante del m\u00fasculo, que tiene unos hallazgos histol\u00f3gicos caracter\u00edsticos. los avances gen\u00e9ticos y moleculares de los \u00faltimos a\u00f1os han permitido la individualizaci\u00f3n de distintas entidades englobadas bajo el t\u00e9rmino de distrof\u00eda muscular. Cada una de ellas se relaciona con alteraciones en un gen y la prote\u00edna que \u00e9ste codifica. Nuestro trabajo se centra en las relacionadas con la alteraci\u00f3n de la distrofina, una prote\u00edna estructural de la membrana muscular. Nuestros objetivos fundamentales han sido describir las caracter\u00edsticas cl\u00ednicas, histol\u00f3gicas, inmunohistoqu\u00edmicas y gen\u00e9ticas de las distintas formas de distrofinopat\u00eda, intentando establecer relaciones entre ellas, buscando patrones caracter\u00edsticos de cada grupo y comparando nuestros resultados con los publicados en la literatura. El trabajo incluye 86 pacientes diagnosticados de distrofinopat\u00eda, que se han clasificado en formas graves (distrofia muscular de duchenne, dmd) o leves seg\u00fan las caracter\u00edsticas cl\u00ednicas e inmunohistoqu\u00edmicas, y a su vez las leves en 4 subgrupos seg\u00fan el fenotipo:distrofia muscular de becker, mialgias y calambres, hipercpkemia asintom\u00e1tica y portadoras. Tras analizar los resultados hemos llegado a una srie de conclusiones:  1,- observamos un aumento de la frecuencia de las distrofinopat\u00edas leves, en relaci\u00f3n con las graves, respecto a series previas.  2,- ning\u00fan paciente con distrofinopat\u00eda presenta s\u00edntomas o signos cl\u00ednicos en el momento del nacimiento. La edad media de inicio cl\u00ednico es inferior en la dmd respecto a la dmb.  3,- el inicio precoz de los s\u00edntomas no determina diferencias en la evoluci\u00f3n cl\u00ednica ni en la dmd ni tampoco en la dmb.  4,- aunque la gran mayor\u00eda de las distrofinopat\u00edas (94.2%) tiene cifras de cpk por encima de 1.000 u, algunos casos de distrofinopat\u00edas leves (5.2%) tiene cifras menores de 1.000.  5,-<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Distrofinopat\u00edas: correlaciones cl\u00ednicas, histol\u00f3gicas, inmunohistoqu\u00edmicas y gen\u00e9ticas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Distrofinopat\u00edas: correlaciones cl\u00ednicas, histol\u00f3gicas, inmunohistoqu\u00edmicas y gen\u00e9ticas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Irene Garc\u00eda Morales <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/03\/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>Ana Cabello Fern\u00e1ndez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Antonio Solis  herruzo <\/li>\n<li>Jos\u00e9 Berciano blanco (vocal)<\/li>\n<li> Mart\u00ednez l\u00f3pez de letona Juan (vocal)<\/li>\n<li>esteban Garcia-albea ristol (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Irene Garc\u00eda Morales El t\u00e9rmino distrofia muscular hace referencia a una enfermedad progresiva e incapacitante del m\u00fasculo, [&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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