{"id":15967,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/una-breve-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica\/"},"modified":"2023-04-17T15:43:24","modified_gmt":"2023-04-17T15:43:24","slug":"una-breve-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/el\/una-breve-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica\/","title":{"rendered":"Una breve storia della Sindrome da Duplicazione di MECP2: 20 anni di comprensione clinica"},"content":{"rendered":"<p><strong>\u039f Daniel Ta \u03ba\u03b1\u03b9 \u03bf\u03b9 \u03c3\u03c5\u03bd\u03b5\u03c1\u03b3\u03ac\u03c4\u03b5\u03c2 \u03c4\u03bf\u03c5 (Instituto Telethon per bambini, \u0391\u03c5\u03c3\u03c4\u03c1\u03b1\u03bb\u03af\u03b1) \u03b1\u03c0\u03b5\u03b9\u03ba\u03bf\u03bd\u03af\u03b6\u03bf\u03c5\u03bd \u03c3\u03c4\u03bf \u03ac\u03c1\u03b8\u03c1\u03bf \u03c4\u03bf\u03c5\u03c2 \u03bc\u03b5 \u03c4\u03af\u03c4\u03bb\u03bf \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" (\u03a3\u03cd\u03bd\u03c4\u03bf\u03bc\u03b7 \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 MECP2: 20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7\u03c2) \u03c4\u03b9\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ad\u03c2 \u03ad\u03c1\u03b5\u03c5\u03bd\u03b5\u03c2 \u03c0\u03bf\u03c5 \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf.<\/strong><\/p>\n\n<p>Daniel Ta <em>et al, <\/em>\u03a3\u03cd\u03bd\u03c4\u03bf\u03bc\u03b7 \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 MECP2: 20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7\u03c2, <em><em>Orphanet J Rare Dis<\/em> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n<p><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\n<p>RIASSUNTO DELL'ARTICOLO:<\/p>\n<p>\u03a4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 MECP2 (MDS) \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03b9\u03b1 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b1 \u03b1\u03c3\u03b8\u03ad\u03bd\u03b5\u03b9\u03b1 \u03c0\u03bf\u03c5 \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03b5\u03af\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf\u03bd \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03cc \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 MECP2 (\u03c0\u03bf\u03c5 \u03c5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03c3\u03c4\u03bf \u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 \u03a7), \u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03c4\u03b7\u03bd \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7 \"\u03b4\u03ad\u03c3\u03bc\u03b5\u03c5\u03c3\u03b7\u03c2 \u03bc\u03b5\u03b8\u03c5\u03bb-CpG\" (MeCP2). \u038c\u03c4\u03b1\u03bd \u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03b1\u03c5\u03c4\u03cc \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c7\u03ac\u03bd\u03b5\u03b9 \u03c4\u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5 \u03bb\u03cc\u03b3\u03c9 \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7\u03c2, \u03b1\u03c5\u03c4\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03c9\u03c2 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Rett (RTT).<\/p>\n<p>\u03a4\u03bf MDS \u03ad\u03c7\u03b5\u03b9 \u03b5\u03c0\u03b9\u03c0\u03bf\u03bb\u03b1\u03c3\u03bc\u03cc \u03bc\u03af\u03b1 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03b1\u03bd\u03ac 150.000 \u03b3\u03b5\u03bd\u03bd\u03ae\u03c3\u03b5\u03b9\u03c2. Gli aspetti chiave della MDS includono disabilita' intellettiva, ritardo nello sviluppo, ipotonia, convulsioni, frequenti infezioni respiratorie, tratti comportamentali autistici e dismorfia, sebbene queste comorbidita' non siano ancora pienamente comprese. Questo articolo copre due decenni di casi studio di MDS a partire dalla sua scoperta nel 1999. \u0391\u03c6\u03bf\u03cd \u03b5\u03c0\u03b1\u03bd\u03b5\u03be\u03b5\u03c4\u03ac\u03c3\u03b5\u03b9 \u03c4\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c0\u03bf\u03c5 \u03b1\u03bd\u03b1\u03c6\u03ad\u03c1\u03b8\u03b7\u03ba\u03b1\u03bd, \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03b6\u03b5\u03b9 \u03c4\u03bf\u03bc\u03b5\u03af\u03c2 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03bf\u03c0\u03bf\u03af\u03bf\u03c5\u03c2 \u03b7 \u03b3\u03bd\u03ce\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c5 \u03b5\u03be\u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03b5\u03af \u03bd\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b5\u03bb\u03bb\u03b9\u03c0\u03ae\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c5\u03bd\u03b9\u03c3\u03c4\u03ac \u03c4\u03b7\u03bd \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c5 \u03bc\u03ad\u03c3\u03c9 \u03bc\u03b9\u03b1\u03c2 \u03b4\u03b9\u03b5\u03b8\u03bd\u03bf\u03cd\u03c2 \u03c3\u03c5\u03bb\u03bb\u03bf\u03b3\u03ae\u03c2 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03c9\u03bd. \u0391\u03c5\u03c4\u03cc \u03b8\u03b1 \u03b5\u03be\u03c5\u03c0\u03b7\u03c1\u03b5\u03c4\u03bf\u03cd\u03c3\u03b5 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c4\u03b7\u03bd \u03b1\u03c0\u03bf\u03c3\u03b1\u03c6\u03ae\u03bd\u03b9\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03b4\u03b9\u03b1\u03c3\u03c4\u03b1\u03cd\u03c1\u03c9\u03c3\u03b7\u03c2 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd MDS \u03ba\u03b1\u03b9 RTT.<\/p>\n<p><a role=\"button\" href=\"\/el\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/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\">\u0394\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta e i suoi collaboratori (Instituto Telethon per bambini, Australia) illustrano nel loro articolo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb le scoperte [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13091,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[139],"tags":[],"class_list":["post-15967","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-pubblicazioni"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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