{"id":135490,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/contribucion-del-estudio-neurofisiologico-al-diagnostico-de-la-enfermedad-de-charcot-marie-tooth-tipo-1a-en-la-infancia\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"contribucion-del-estudio-neurofisiologico-al-diagnostico-de-la-enfermedad-de-charcot-marie-tooth-tipo-1a-en-la-infancia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/contribucion-del-estudio-neurofisiologico-al-diagnostico-de-la-enfermedad-de-charcot-marie-tooth-tipo-1a-en-la-infancia\/","title":{"rendered":"Contribucion del estudio neurofisiologico al diagnostico de la enfermedad de charcot-marie-tooth tipo 1a en la infancia."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Antonio Garcia Garcia <\/strong><\/h2>\n<p>Este trabajo ha sido planteado con el fin de determinar las caracteristicas neurofisiologicas, y tambien clinicas, de una serie de 20 ni\u00f1os en riesgo de cmt-1a durante los primeros a\u00f1os de vida. Ademas, obtuvimos la maduracion de la velocidad de conduccion nerviosa periferica (vcn) en un grupo control de 92 ni\u00f1os.  en el grupo control la vcn al nacer fue la mitad del valor del adulto, incrementando progresivamente hasta alcanzar valores de aquel entre los 4-6 a\u00f1os de edad.  en los ni\u00f1os afectos de cmt-1a (12 casos) la vcn estuvo en el limite bajo de la normalidad al nacer y decrecio paulatinamente durante los primeros a\u00f1os de vida, resultando por ello una penetrancia del 100% a los 3 a\u00f1os de edad; la prolongacion de la latencia motora distal podia preceder al descenso de la vcn. La exploracion clinica fue anormal en el 83% de estos ni\u00f1os durante el primer quinquenio. En los ni\u00f1os en riesgo de cmt-1a sanos (8 casos) los estudios neurofisiologicos y clinicos fueron siempre normales.  la investigacion genetica realizada \u00aba posteriori\u00bb demostro que la trisomia 17p11.2-p12 estaba presente en los ni\u00f1os afectos y ausente en los sanos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Contribucion del estudio neurofisiologico al diagnostico de la enfermedad de charcot-marie-tooth tipo 1a en la infancia.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Contribucion del estudio neurofisiologico al diagnostico de la enfermedad de charcot-marie-tooth tipo 1a en la infancia. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Antonio Garcia Garcia <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Cantabria<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1997<\/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>Jos\u00e9 Angel Berciano Blanco<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Onofre Combarros Pascual <\/li>\n<li>Julio Artieda Gonzalez Granda (vocal)<\/li>\n<li>Mar\u00eda  Rosario Fernandez Lopez (vocal)<\/li>\n<li>Jos\u00e9 M Fernandez Rodriguez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Antonio Garcia Garcia Este trabajo ha sido planteado con el fin de determinar las caracteristicas neurofisiologicas, y [&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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