{"id":7367,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/05\/05\/20-jahre-klinisches-verstaendnis\/"},"modified":"2023-01-13T11:49:43","modified_gmt":"2023-01-13T11:49:43","slug":"20-anni-di-verstaendnis-clinico","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/20-anni-di-verstaendnis-clinico\/","title":{"rendered":"20 anni di attivit\u00e0 clinica"},"content":{"rendered":"<p><strong>Daniel Ta et al (Telethon Kids Institute, Australia) in ihrem neuen Artikel \" Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis \" fassen die klinischen Erkenntnisse \u00fcber das Syndrom zusammen.<\/strong><\/p>\n\n\n\n<p>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\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n<p>ZUSAMMENFASSUNG DES ARTIKELS (\u00dcbersetzt aus dem Englischen):<\/p>\n<p>Das MeCP2-Genduplikationssyndrom \u00e8 una malattia selettiva del cromosoma X, che porta a una stasi dello sviluppo neurologico, causata dalla duplicazione del gene della Methyl-CpG-Bindungsprotein 2 (MECP2), e che si manifesta con una mutazione che porta a un calo delle funzioni, il Rett-Syndrom (RTT).<\/p>\n<p>La prevalenza di MeCP2-Genduplikationssyndroms \u00e8 pari a 1\/150.000 dei bambini. Le cause principali di MeCP2-Genduplikationssyndroms sono geistige Behinderung, Entwicklungsverz\u00f6gerung, Hypotonie, epileptische Anf\u00e4lle, wiederholte Atemwegsinfektionen, Magen-Darm-Probleme, ein autistisches Spektrum und Gesichtsdysmorphie - obwohl diese Komorbidit\u00e4ten noch nicht genau genug verstanden werden. La presente relazione si basa su studi di casi avvenuti negli ultimi due anni, a partire dalla comparsa della sindrome nel 1999. A seguito di un'approfondita analisi dei dati raccolti, sono state individuate alcune aree con una conoscenza approfondita, per le quali si raccomanda una migliore individuazione della sindrome attraverso una banca dati internazionale. Queste Bem\u00fchungen ci permetteranno anche di capire quali sono le differenze cliniche tra MeCP2-Genduplikationssyndroms e RTT.<\/p>\n<p>\u00a0<\/p>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/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\">Pubblicazione ansehen<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al. (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \u00ab\u00a0Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\u00a0\u00bb die klinischen Erkenntnisse \u00fcber das Syndrom zusammen. Daniel [&hellip;]<\/p>","protected":false},"author":2,"featured_media":6887,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7367","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publikationen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>20 Jahre klinisches Verst\u00e4ndnis - DupMECP2<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/it\/20-anni-di-verstaendnis-clinico\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"20 Jahre klinisches Verst\u00e4ndnis - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Daniel Ta et al. (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \u00ab\u00a0Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\u00a0\u00bb die klinischen Erkenntnisse \u00fcber das Syndrom zusammen. 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