{"id":83923,"date":"2018-03-10T00:08:08","date_gmt":"2018-03-10T00:08:08","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/epidemiologia-genetica-y-molecular-de-la-cistinuria-en-la-comunidad-valenciana\/"},"modified":"2018-03-10T00:08:08","modified_gmt":"2018-03-10T00:08:08","slug":"epidemiologia-genetica-y-molecular-de-la-cistinuria-en-la-comunidad-valenciana","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/epidemiologia-genetica-y-molecular-de-la-cistinuria-en-la-comunidad-valenciana\/","title":{"rendered":"Epidemiolog\u00eda genetica y molecular de la cistinuria en la comunidad Valenciana."},"content":{"rendered":"<h2>Tesis doctoral de <strong> M. Luisa Guillen Dominguez <\/strong><\/h2>\n<p>La cistinuria es un error congenito del metabolismo que se caracteriza por una hiperexcreci\u00f3n urinaria de cistina, lisina, arginina y ornitina debido a una alteraci\u00f3n de un transportador de amino\u00e1cidos con el t\u00fabulo renal. Las manifestaciones clinicas de la enfermedad son debidas a la baja solubilidad de la cistina e incluyen infecciones urinarias recurrentes, c\u00f3licos e incluso p\u00e9rdida de la funci\u00f3n renal. En nuestra \u00e1rea geogr\u00e1fica, la comunidad Valenciana, se ha estimado una incidencia alta de esta patolog\u00eda; 1 de cada 1887 reci\u00e9n nacidos muestra hiperexcreci\u00f3n urinaria de cistina. ante la amplia disparidad de fonotipos observados en los pacientes cistin\u00faricos, la nefrolitiasis de cistina se presenta como un problema de salud p\u00fablica de dificil tratamiento y prevenci\u00f3n. En esta tesis se aborda el estudio de la cistinuria en la comunidad Valenciana desde el punto de vista de la epidemiolog\u00eda gen\u00e9tica y molecular, analizado los factores de riesgo gen\u00e9ticos y ambientales, y su interacci\u00f3n en la etiolog\u00eda, distribuci\u00f3n y tratamiento de la enfermedad. A partir de sujetos diagnosticados de cistinuria se contact\u00f3 con el resto de miembros del \u00e1rbo genealogico. A cada individuo se le realiz\u00f3 un an\u00e1lisis microsc\u00f3pico y bioquimico de la orina y un analisis de las diversas variantes del gen slc3 a1, que habia sido asociado a cistinuria. adem\u00e1s, a trav\u00e9s de un cuestionario se obtuvieron datos sobre variables estructurales, ambientales, sociodemogr\u00e1ficas y antecedentes clinicos personales y familiares. El analisis estadistico , se realiz\u00f3 mediante pruebas param\u00e9tricas y no param\u00e9tricas, regresi\u00f3n log\u00edstica,regresi\u00f3n lineal simple y multiple, y analisis factorial de componentes principales. La muestra estudiada incluia 45 pacientes cistin\u00faricos, 42 familiares pertenecientes a 19 familias no emparentadas entre si, y 81 controles aparcados por sexo y edad. Primeramente se establecieron  los valores de referencia para la<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Epidemiolog\u00eda genetica y molecular de la cistinuria en la comunidad Valenciana.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Epidemiolog\u00eda genetica y molecular de la cistinuria en la comunidad Valenciana. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M. Luisa Guillen Dominguez <\/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 27\/03\/2000<\/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>Jose Hernandez Yago<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Luis Franco vera <\/li>\n<li>eulalia Alonso iglesias (vocal)<\/li>\n<li>carmen Saiz s\u00e1nchez (vocal)<\/li>\n<li> Cabello tomas Mar\u00eda  Luisa (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M. Luisa Guillen Dominguez La cistinuria es un error congenito del metabolismo que se caracteriza por una [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[212,36483,160,35,9,1086,940,2820,17],"tags":[177585,7529,37233,26975,11638,177584],"class_list":["post-83923","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-biologia-molecular","category-bioquimica","category-ciencias-de-la-vida","category-ciencias-medicas","category-epidemiologia","category-genetica-bioquimica","category-genetica-humana","category-quimica","tag-cabello-tomas-maria-luisa","tag-carmen-saiz-sanchez","tag-eulalia-alonso-iglesias","tag-jose-hernandez-yago","tag-luis-franco-vera","tag-m-luisa-guillen-dominguez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83923","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=83923"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/83923\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=83923"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=83923"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=83923"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}