{"id":2132,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=2132"},"modified":"2023-01-13T11:50:45","modified_gmt":"2023-01-13T11:50:45","slug":"nueva-publicacion-de-daniel-ta-en-mds","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/nueva-publicacion-de-daniel-ta-en-mds\/","title":{"rendered":"20 a\u00f1os de conocimiento cl\u00ednico"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Daniel Ta y sus colegas (Telethon Kids Institute, Australia) resumen en su nuevo art\u00edculo \u00abBreve historia del s\u00edndrome de duplicaci\u00f3n del gen MECP2: 20 a\u00f1os de conocimientos cl\u00ednicos\u00bb los estudios cl\u00ednicos sobre este s\u00edndrome.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Daniel Ta <em>et al, <\/em>Breve historia del s\u00edndrome de duplicaci\u00f3n de MECP2: 20 a\u00f1os de comprensi\u00f3n cl\u00ednica, <em><em>Orphanet J Rare Dis<\/em>&nbsp;<strong>17,&nbsp;<\/strong>131 (2022)<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n<p>RESUMEN DEL ART\u00cdCULO (Traducido del ingl\u00e9s):<\/p>\n<p>El s\u00edndrome de duplicaci\u00f3n del gen MECP2 es una enfermedad rara ligada al cromosoma X que provoca un trastorno del desarrollo neurol\u00f3gico causado por la duplicaci\u00f3n del gen de la prote\u00edna metil-CpG-binding protein 2 (MECP2), un gen cuyas mutaciones que provocan la p\u00e9rdida de funci\u00f3n dan lugar al s\u00edndrome de Rett (RTT).<\/p>\n<p>La prevalencia del s\u00edndrome de duplicaci\u00f3n del gen MECP2 se estima en 1 de cada 150 000 nacimientos entre los ni\u00f1os. Las principales caracter\u00edsticas del MeCP2dupS son la discapacidad intelectual, el retraso en el desarrollo, hipoton\u00eda, crisis epil\u00e9pticas, infecciones respiratorias recurrentes, problemas gastrointestinales, trastornos del espectro autista y dismorfia facial, aunque estas comorbilidades a\u00fan no se comprenden con suficiente precisi\u00f3n. Esta revisi\u00f3n abarca los casos cl\u00ednicos de las dos \u00faltimas d\u00e9cadas, desde el descubrimiento del s\u00edndrome en 1999. Tras un examen exhaustivo de las caracter\u00edsticas descritas, esta revisi\u00f3n ha identificado \u00e1reas de conocimiento limitado para las que recomendamos una mejor fenotipificaci\u00f3n de este s\u00edndrome mediante una recopilaci\u00f3n internacional de datos. Este esfuerzo permitir\u00eda, adem\u00e1s, distinguir los solapamientos cl\u00ednicos entre el s\u00edndrome de duplicaci\u00f3n y el s\u00edndrome de Rett.<\/p>\n<p><a role=\"button\" href=\"\/es\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8939085\/\" style=\"border-radius:10px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">Ver la publicaci\u00f3n<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et ses coll\u00e9gues (Institut Telethon Kids Institute, Australie) r\u00e9sument dans leur nouvel article \u00ab La br\u00e8ve histoire du syndrome de la duplication du g\u00e8ne MECP2 : 20 ann\u00e9es [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4822,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-2132","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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