{"id":37528,"date":"1998-01-01T00:00:00","date_gmt":"1998-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/distrofia-de-cinturas-en-guipuzcoa-encuesta-epidemiologica-aspectos-clinicos-y-geneticos\/"},"modified":"1998-01-01T00:00:00","modified_gmt":"1998-01-01T00:00:00","slug":"distrofia-de-cinturas-en-guipuzcoa-encuesta-epidemiologica-aspectos-clinicos-y-geneticos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/distrofia-de-cinturas-en-guipuzcoa-encuesta-epidemiologica-aspectos-clinicos-y-geneticos\/","title":{"rendered":"Distrofia de cinturas en guipuzcoa: encuesta epidemiologica, aspectos clinicos y geneticos."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Urtasun Ocariz <\/strong><\/h2>\n<p>El concepto de distrofia de cinturas est\u00e1 cambiando r\u00e1pidamente debido a los avances en gen\u00e9tica molecular.  recientemente se han descrito siete diferentes loci demostrando que la distrofia de cinturas es un s\u00edndrome heterog\u00e9neo que incluye diferentes enfermedades con un fenotipo similar. En poblaciones aisladas, con poca mezcla gen\u00e9tica con las poblaciones vecinas, se puede encontrar una acumulaci\u00f3n de casos. Se ha realizado un estudio epidemiol\u00f3gico en la provincia de guip\u00fazcoa encontr\u00e1ndose la preValencia m\u00e1s alta descrita hasta ahora: 67.5\/10 6. Los estudios gen\u00e9ticos demuestran que 38 casos corresponden al tipo lgmd2a debido a mutaciones en el gen de la calpa\u00edna-3, un caso al tipo lgmd2d (alfa-sarcoglicanopat\u00eda) y en 7 pacientes no se ha identificado la mutaci\u00f3n. Adem\u00e1s, la mutaci\u00f3n del gen de la calpa\u00edna predominante en los pacientes originarios del pa\u00eds vasco (ex\u00f3n 22,2362ag hasta tcatct), apenas se ha encontrado en otras partes del mundo. Esta observaci\u00f3n sugiere fuertemente un efecto fundador en la poblaci\u00f3n del pa\u00eds vasco. Las caracter\u00edsticas cl\u00ednicas de los pacientes con calpainopat\u00eda son bastante homog\u00e9neas y diferentes de los otros grupos (sarcoglicanopat\u00eda y mutaci\u00f3n no identificada). La enfermedad comienza en la mayor\u00eda de casos en la cintura p\u00e9lvica entre los 8 y 14 a\u00f1os conduciendo a silla de ruedas entre los 11 y 28 a\u00f1os del inicio de la enfermedad. No hay afectaci\u00f3n facial ni ocular ni se han apreciado alteraciones card\u00edacas y es rara la pseudohipertrofia gemelar.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Distrofia de cinturas en guipuzcoa: encuesta epidemiologica, aspectos clinicos y geneticos.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Distrofia de cinturas en guipuzcoa: encuesta epidemiologica, aspectos clinicos y geneticos. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Urtasun Ocariz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Navarra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1998<\/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 Felix Marti Masso<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Jose Zarranz Imirizaldu <\/li>\n<li>Juan Narbona Garcia (vocal)<\/li>\n<li>Ricardo Insausti Serrano (vocal)<\/li>\n<li>Eduardo Gutierrez Rivas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miguel Urtasun Ocariz El concepto de distrofia de cinturas est\u00e1 cambiando r\u00e1pidamente debido a los avances 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 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