{"id":15099,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-anos-de-comprension-clinica\/"},"modified":"2023-02-20T19:32:02","modified_gmt":"2023-02-20T19:32:02","slug":"20-anni-di-comprensione-clinica","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/20-anni-di-comprensione-clinica\/","title":{"rendered":"20 anni di conoscenze cliniche"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Daniel Ta y colaboradores (Telethon Kids Institute, Australia) resumen en su nuevo art\u00edculo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb los hallazgos cl\u00ednicos sobre el s\u00edndrome.<\/strong><\/p>\n\n<p class=\"wp-block-paragraph\">Daniel Ta <em>e altri, <\/em>Breve storia della sindrome da duplicazione MECP2: 20 anni di comprensione clinica, <em><em>Orphanet J Rare Dis<\/em> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p class=\"wp-block-paragraph\"><\/p>\n<p>SINTESI DELLA PUBBLICAZIONE<\/p>\n<p>El s\u00edndrome de duplicaci\u00f3n de MECP2 (MDS) es un raro trastorno del neurodesarrollo ligado al cromosoma X causado por una duplicaci\u00f3n del gen de la prote\u00edna de uni\u00f3n metil-CpG 2 (MECP2), un gen en el que las mutaciones de p\u00e9rdida de funci\u00f3n conducen al s\u00edndrome de Rett (RTT).<\/p>\n<p>El MDS tiene una prevalencia estimada de 1\/150.000 en varones nacidos vivos. Las caracter\u00edsticas clave del MDS incluyen discapacidad intelectual, retraso del desarrollo, hipoton\u00eda, convulsiones, infecciones respiratorias recurrentes, problemas gastrointestinales, rasgos conductuales de autismo y rasgos dism\u00f3rficos; aunque estas comorbilidades a\u00fan no se conocen con suficiente detalle. Esta revisi\u00f3n abarca las dos \u00faltimas d\u00e9cadas de estudios de casos y series de MDS desde el descubrimiento del trastorno en 1999. Tras una revisi\u00f3n exhaustiva de las caracter\u00edsticas descritas, esta revisi\u00f3n ha identificado \u00e1reas de conocimiento limitado que recomendamos que se aborden mediante una mejor fenotipificaci\u00f3n de este trastorno a trav\u00e9s de una recopilaci\u00f3n internacional de datos. Este esfuerzo tambi\u00e9n servir\u00eda para delinear el solapamiento cl\u00ednico entre los MDS y el RTT.<\/p>\n<p><a role=\"button\" href=\"\/it\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p class=\"wp-block-paragraph\"><\/p>\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\">Vedi la pubblicazione<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta y colaboradores (Telethon Kids Institute, Australia) resumen en su nuevo art\u00edculo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb los hallazgos cl\u00ednicos sobre [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13092,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[113],"tags":[],"class_list":["post-15099","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publicacion"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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