{"id":9091,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/"},"modified":"2023-01-18T09:41:48","modified_gmt":"2023-01-18T09:41:48","slug":"20-anni-di-conoscenze-cliniche","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/20-anni-di-conoscenze-cliniche\/","title":{"rendered":"20 anni di conoscenze cliniche"},"content":{"rendered":"<p><strong>Daniel Ta e altri (Telethon Kids Institute, Australia) riassumono nel loro nuovo articolo \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" i risultati clinici della sindrome.<\/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><strong>ESTRATTO DELLA PUBBLICAZIONE:<\/strong><\/p>\n<p>La sindrome da duplicazione di MECP2 (MDS) \u00e8 un raro disturbo del neurosviluppo, legato all'X, causato da una duplicazione del gene methyl-CpG-binding protein 2 (MECP2), un gene in cui mutazioni con perdita di funzione portano alla sindrome di Rett (RTT).<\/p>\n<p>La MDS ha una prevalenza stimata nei maschi nati vivi di 1\/150.000. Le caratteristiche principali della SMD includono disabilit\u00e0 intellettiva, ritardo nello sviluppo, ipotonia, convulsioni, infezioni respiratorie ricorrenti, problemi gastrointestinali, caratteristiche comportamentali dell'autismo e dismorfismi, sebbene queste comorbidit\u00e0 non siano ancora comprese con sufficiente granularit\u00e0. Questa revisione ha preso in esame gli ultimi vent'anni di studi e serie di casi di MDS, a partire dalla scoperta del disturbo nel 1999. Dopo aver esaminato in modo esaustivo le caratteristiche riportate, questa revisione ha identificato le aree di conoscenza limitate che, secondo noi, potrebbero essere affrontate con una migliore fenotipizzazione di questa patologia attraverso una raccolta di dati internazionale. Questo sforzo servirebbe anche a delineare la sovrapposizione clinica tra MDS 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\">Alla pubblicazione<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4823,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-9091","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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