{"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":"nuova-pubblicazione-di-daniel-ta-su-mds","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/nuova-pubblicazione-di-daniel-ta-su-mds\/","title":{"rendered":"20 anni di conoscenze cliniche"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Daniel Ta e i suoi colleghi (Telethon Kids Institute, Australia) riassumono nel loro nuovo articolo \u00abBreve storia della sindrome da duplicazione del gene MECP2: 20 anni di conoscenze cliniche\u00bb gli studi clinici sulla sindrome.<\/strong><\/p>\n\n\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>&nbsp;<strong>17,&nbsp;<\/strong>131 (2022)<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n<p>SINTESI DELL'ARTICOLO (Tradotto dall'inglese):<\/p>\n<p>La sindrome da duplicazione del gene MECP2 \u00e8 una malattia rara legata al cromosoma X, che comporta un disturbo dello sviluppo neurologico causato dalla duplicazione del gene della proteina metil-CpG-binding protein 2 (MECP2), un gene le cui mutazioni con perdita di funzione determinano la sindrome di Rett (RTT).<\/p>\n<p>La prevalenza della sindrome da duplicazione del gene MECP2 \u00e8 stimata in 1 su 150.000 nascite tra i maschi. Le caratteristiche principali della MeCP2dupS sono la disabilit\u00e0 intellettiva, il ritardo dello sviluppo, ipotonia, crisi epilettiche, infezioni respiratorie ricorrenti, disturbi gastrointestinali, disturbi dello spettro autistico e dismorfia facciale \u2013 sebbene queste comorbilit\u00e0 non siano ancora comprese con sufficiente precisione. La presente revisione copre i casi clinici degli ultimi due decenni, a partire dalla scoperta della sindrome nel 1999. Dopo un\u2019analisi completa delle caratteristiche riportate, questa rassegna ha individuato alcune aree di conoscenza limitata per le quali raccomandiamo una migliore fenotipizzazione di questa sindrome attraverso una raccolta dati a livello internazionale. Questo sforzo consentirebbe inoltre di distinguere le sovrapposizioni cliniche tra la sindrome da duplicazione e la sindrome di RTT.<\/p>\n<p><a role=\"button\" href=\"\/it\/_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 class=\"wp-block-paragraph\"><\/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\">Vedere la pubblicazione<\/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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