{"id":2795,"date":"1994-01-01T00:00:00","date_gmt":"1994-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/1994\/01\/01\/distrofia-facioescapulohumeral-estudio-clinico-genetico-y-molecular\/"},"modified":"1994-01-01T00:00:00","modified_gmt":"1994-01-01T00:00:00","slug":"distrofia-facioescapulohumeral-estudio-clinico-genetico-y-molecular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/distrofia-facioescapulohumeral-estudio-clinico-genetico-y-molecular\/","title":{"rendered":"Distrofia facioescapulohumeral: estudio clinico, genetico y molecular"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Alonso Gonzalez Masegosa <\/strong><\/h2>\n<p>Se realiza un estudio clinico, genetico y molecular de una serie de 93 pacientes y familiares pertenecientes a 18 familias residentes en la comunidad Valenciana. Se estima una preValencia de 2\/100.000. La mayoria de los pacientes tiene una forma de inicio facioescapulohumeral con gran variabilidad expresiva, destacando un 10,7% de casos abortivos. El curso es lentamente progresivo y se ha observado una significativa presencia de perdida de audicion. La determinacion de ck tiene escaso valor diagnostico y pronostico. En los estudios emg y patologicos predominan alteraciones miopaticas inespecificas. En analisis de segregacion es compatible con una herencia autosomicodominante aunque existen algunos casos esporadicos que pueden representar mutaciones de novo. Se demuestra ausencia de heterogenidad genetica.  en 10 familias se realiza un estudio molecular utilizando la sonda p13e-11 que topografia una zona proxima a la region 4q35 en la que se localiza el gen responsable de la enfermedad. Esta sonda detecta en pacientes con dfeh un reordenamiento con segregacion de fragmentos de 28 kb. En 9 de estas familias esta presente dicho reordenamiento sugiriendo que esta sonda puede ser una herramienta util en el diagnostico de casos presintomaticos, abortivos, esporadicos y fenocopias.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Distrofia facioescapulohumeral: estudio clinico, genetico y molecular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Distrofia facioescapulohumeral: estudio clinico, genetico y molecular <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Alonso Gonzalez Masegosa <\/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 01\/01\/1994<\/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>Juan  Jes\u00fas Vilchez Padilla<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Adolfo Benajes Martinez <\/li>\n<li>Francisco Jos\u00e9 Morales Olivas (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda Grau  Veciana (vocal)<\/li>\n<li>Jorge Matias-guiu Guia (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Alonso Gonzalez Masegosa Se realiza un estudio clinico, genetico y molecular de una serie de 93 pacientes [&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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