{"id":16446,"date":"2018-03-09T09:04:02","date_gmt":"2018-03-09T09:04:02","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/incidencia-de-hemoglobinopatias-estructurales-en-madrid-estudio-neonatal-en-sangre-de-cordon-umbilical\/"},"modified":"2018-03-09T09:04:02","modified_gmt":"2018-03-09T09:04:02","slug":"incidencia-de-hemoglobinopatias-estructurales-en-madrid-estudio-neonatal-en-sangre-de-cordon-umbilical","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/incidencia-de-hemoglobinopatias-estructurales-en-madrid-estudio-neonatal-en-sangre-de-cordon-umbilical\/","title":{"rendered":"Incidencia de hemoglobinopatias estructurales en Madrid. estudio neonatal en sangre de cordon umbilical"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Hojas Bernal Manuel Ricardo <\/strong><\/h2>\n<p>Los objetivos de esta tesis fueron conocer la incidencia de homoglobinopat\u00edas estructurales en el area sanitaria n\u00c2\u00ba 7 de la ciudad de Madrid, comprobar la eficacia de la cromatograf\u00eda l\u00edquida de alta resoluci\u00f3n hplc de fase reserva como sistema de b\u00fasqueda de homoglobinopat\u00edas anormales en sangre de cord\u00f3n umbilical y caracterizar molecularmente las mutaciones de las homoglobinopat\u00e1is encontradas en el estudio. Se trata de un estudio epidemiol\u00f3gico transversal de determinaci\u00f3n de incidencia. Se estudiaron un total de 1.200 reci\u00e9n nacidos del hospital universitario san carlos de Madrid, en el per\u00edodo comprendido entre enero de 1999 y enero de 2001. Como m\u00e9todo de despistaje se realiz\u00f3 hplc de cadenas de globina a la sangre de cord\u00f3n umbilical, aquellos que resultaron patol\u00f3gicos fueron diagnosticados mediante hemograma, hplc de hemoglobinas, estudios electrofor\u00e9ticos y de biolog\u00eda molecular. se efectu\u00f3 estudio familiar y consejo gen\u00e9tico.  las principales conclusiones fueron: la t\u00e9cnica de hplc de fase reversa es un buen m\u00e9todo para su utilizaci\u00f3n en campa\u00f1as de detecci\u00f3n de hemoglobinopat\u00edas estructurales dado su elevado rendimiento, f\u00e1cil realizaci\u00f3n y automatizaci\u00f3n del proceso. La incidencia de hemoglobinopat\u00edas estructurales de cadenas beta y alfa es de 11,7 por cada mil neonatos. En 6 neonatos, fue detectada la presencia de hb s (beta6 (a3) glul-val). En otros 2 neonatos se detect\u00f3 la presencia de hb c (beta6 (a3) glu-lys). Describimos dos nuevas vairantes de cadena alfa, hb cl\u00ednico-Madrid (alfa2 90 (fg2) lys-arg), y hb aranjuez (alfa1 90 (fg2) lys-arg) en dos familias espa\u00f1olas, ambas son salientes desde el punto de vista cl\u00ednico como de laboratorio, se caracterizaron molecularmente por una mutaci\u00f3n de aag-agg a nivel del cod\u00f3n 90. Describimos una nueva variante de cadena alfa, inestable y con baja afinidad por el o2, hb el escorial (alfa2 96 (g3) val-asp), al laboratorio se manifiesta como una<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Incidencia de hemoglobinopatias estructurales en Madrid. estudio neonatal en sangre de cordon umbilical<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Incidencia de hemoglobinopatias estructurales en Madrid. estudio neonatal en sangre de cordon umbilical <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Hojas Bernal Manuel Ricardo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/04\/2002<\/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 Villegas Mart\u00ednez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: domingo Espinos perez <\/li>\n<li>angela Figuera \u00e1lvarez (vocal)<\/li>\n<li>carmen Burgaleta alonso de ozalla (vocal)<\/li>\n<li> Garc\u00eda-talavera casa\u00f1as Juan  a. (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Hojas Bernal Manuel Ricardo Los objetivos de esta tesis fueron conocer la incidencia de homoglobinopat\u00edas estructurales 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 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":[9,218,195,139,156],"tags":[9707,51970,51971,897,51972,51969],"class_list":["post-16446","post","type-post","status-publish","format-standard","hentry","category-ciencias-medicas","category-hematologia","category-hemopatologia","category-medicina-interna","category-patologia","tag-ana-villegas-Martinez","tag-angela-figuera-alvarez","tag-carmen-burgaleta-alonso-de-ozalla","tag-domingo-espinos-perez","tag-garcia-talavera-casanas-juan-a","tag-hojas-bernal-manuel-ricardo"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/16446","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=16446"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/16446\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=16446"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=16446"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=16446"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}