El losartan pot\u00e0sic, f\u00e0rmac utilitzat contra la hipertensi\u00f3 arterial, \u00e9s un tractament efectiu per a les complicacions card\u00edaques que apareixen en el fenotip cardiovascular de la malaltia de Williams-Beuren. Aquest \u00e9s el resultat d\u2019un assaig cl\u00ednic coordinat per l\u2019investigador de la Universitat Pompeu Fabra i CIBER de malalties rares Luis P\u00e9rez Jurado, que acaba de finalitzar. P\u00e9rez Jurado ha parlat sobre aquest estudi i sobre les bases gen\u00e8tiques de la malaltia durant un Seminari IDIBELL celebrat el dia 16 de desembre, a la sala d\u2019actes de l\u2019Hospital Duran i Reynals.<\/p>\n
La s\u00edndrome de Williams-Beuren \u00e9s un trastorn del desenvolupament neuronal que pot apar\u00e8ixer en un de cada 7.500 naixements. La malaltia est\u00e0 provocada per la p\u00e8rdua d\u2019un fragment d\u2019ADN, que afecta entre 26 i 28 gens a la regi\u00f3 7q11.23, en un dels dos cromosomes 7. La malaltia es presenta en diverses variants, que es caracteritzen per trastorns cognitius, problemes metab\u00f2lics i cardiovasculars (provocats per un defecte coronari cong\u00e8nit) i hipercalc\u00e8mia. Els pacients tenen uns trets facials caracter\u00edstics, amb les faccions allargades, llavis gruixuts i nas petit, que els confereix un aspecte \u00e8lfic. Les persones afectades tenen una capacitat musical molt desenvolupada, una elevada sociabilitat i una gran capacitat ling\u00fc\u00edstica. Per contra, manifesten dificultats psicomotores i visuoespacials severes.<\/p>\n
Fa divuit anys que el doctor P\u00e9rez Jurado es dedica a estudiar aquesta malaltia. El grup que dirigeix ha contribu\u00eft a identificar l\u2019alteraci\u00f3 de diversos gens relacionats amb la s\u00edndrome. A partir de l\u2019estudi de 400 fam\u00edlies afectades, el grup encap\u00e7alat per P\u00e9rez Jurado ha contribu\u00eft a la descripci\u00f3 de complicacions m\u00e8diques fins llavors desconegudes, com la hipertensi\u00f3 portal, de la qual ha descrit els mecanismes moleculars.<\/p>\n","protected":false},"excerpt":{"rendered":"
El losartan pot\u00e0sic, f\u00e0rmac utilitzat contra la hipertensi\u00f3 arterial, \u00e9s un tractament efectiu per a les complicacions card\u00edaques que apareixen en el fenotip cardiovascular de la malaltia de Williams-Beuren. Aquest \u00e9s el resultat d\u2019un assaig cl\u00ednic coordinat per l\u2019investigador de la Universitat Pompeu Fabra i CIBER de malalties rares Luis P\u00e9rez Jurado, que acaba de […]<\/p>\n","protected":false},"author":6,"featured_media":23108,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","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":"default","adv-header-id-meta":"","stick-header-meta":"default","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":"","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":[1],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-14 03:30:21","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9578"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=9578"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9578\/revisions"}],"predecessor-version":[{"id":23109,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9578\/revisions\/23109"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/23108"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9578"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9578"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9578"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}