{"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":"neue-veroffentlichung-von-daniel-ta-auf-mds","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/neue-veroffentlichung-von-daniel-ta-auf-mds\/","title":{"rendered":"20 Jahre klinisches Verst\u00e4ndnis"},"content":{"rendered":"<p><strong>Daniel Ta und seine Kollegen (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \"Die kurze Geschichte des MECP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\" die klinischen Studien \u00fcber das Syndrom zusammen.<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>et al, <\/em>A brief history of MECP2 duplication syndrome: 20 years of clinical understanding, <em><em>Orphanet J Rare Dis<\/em>&nbsp;<strong>17,&nbsp;<\/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 (Aus dem Englischen \u00fcbersetzt):<\/p>\n<p>Das MECP2-Genduplikationssyndrom ist eine seltene X-chromosomale Erkrankung, die zu einer St\u00f6rung der Neuroentwicklung f\u00fchrt, die durch eine Duplikation des Gens f\u00fcr das Methyl-CpG-Bindungsprotein 2 (MECP2) verursacht wird.<\/p>\n<p>Die Pr\u00e4valenz des MECP2-Genduplikationssyndroms wird auf 1\/150.000 der Geburten bei Jungen gesch\u00e4tzt. Die Hauptmerkmale von MeCP2dupS sind 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. Diese \u00dcbersicht umfasst Fallstudien aus den letzten zwei Jahrzehnten seit der Entdeckung des Syndroms im Jahr 1999. Nach einer umfassenden \u00dcberpr\u00fcfung der berichteten Merkmale hat diese \u00dcbersicht Bereiche mit begrenztem Wissen identifiziert, f\u00fcr die wir eine bessere Ph\u00e4notypisierung dieses Syndroms durch eine internationale Datensammlung empfehlen. Diese Bem\u00fchungen w\u00fcrden es auch erm\u00f6glichen, die klinischen \u00dcberschneidungen zwischen Duplikationssyndrom und RTT zu unterscheiden.<\/p>\n<p><a role=\"button\" href=\"\/de\/_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><\/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\">Zur Publikation<\/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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