{"id":15099,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-anos-de-comprension-clinica\/"},"modified":"2023-02-20T19:32:02","modified_gmt":"2023-02-20T19:32:02","slug":"20-anni-di-comprensione-clinica","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/20-anni-di-comprensione-clinica\/","title":{"rendered":"20 anni di conoscenze cliniche"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Daniel Ta e colleghi (Telethon Kids Institute, Australia) riassumono nel loro nuovo articolo \u00abThe Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00bb i risultati clinici relativi alla sindrome.<\/strong><\/p>\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> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p class=\"wp-block-paragraph\"><\/p>\n<p>SINTESI DELLA PUBBLICAZIONE<\/p>\n<p>La sindrome da duplicazione del gene MECP2 (MDS) \u00e8 una rara malattia dello sviluppo neurologico legata al cromosoma X, causata da una duplicazione del gene della proteina di legame metil-CpG 2 (MECP2), un gene in cui le mutazioni con perdita di funzione causano la sindrome di Rett (RTT).<\/p>\n<p>La prevalenza stimata della MDS \u00e8 di 1 su 150.000 maschi nati vivi. Le caratteristiche principali della MDS comprendono disabilit\u00e0 intellettiva, ritardo dello sviluppo, ipotonia, convulsioni, infezioni respiratorie ricorrenti, disturbi gastrointestinali, tratti comportamentali autistici e tratti dismorfici; tuttavia, queste comorbilit\u00e0 non sono ancora note in modo sufficientemente dettagliato. La presente revisione copre gli ultimi due decenni di casi clinici e serie di casi relativi alla MDS a partire dalla scoperta della sindrome nel 1999. A seguito di un'analisi approfondita delle caratteristiche descritte, questa revisione ha individuato aree di conoscenza limitata che raccomandiamo di affrontare attraverso una migliore fenotipizzazione di questo disturbo mediante una raccolta internazionale di dati. Questo sforzo servirebbe anche a delineare la sovrapposizione clinica tra la MDS e la sindrome di Rett (RTT).<\/p>\n<p><a role=\"button\" href=\"\/it\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p class=\"wp-block-paragraph\"><\/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\">Vedi la pubblicazione<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta y colaboradores (Telethon Kids Institute, Australia) resumen en su nuevo art\u00edculo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb los hallazgos cl\u00ednicos sobre [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13092,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[113],"tags":[],"class_list":["post-15099","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publicacion"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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