{"id":2380,"date":"2019-06-24T00:00:00","date_gmt":"2019-06-24T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2380"},"modified":"2019-06-24T00:00:00","modified_gmt":"2019-06-24T00:00:00","slug":"um-estudo-de-quatro-anos-revela-a-importancia-do-lyso-gb1-no-monitoramento-de-pacientes-com-doenca-de-gaucher","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/four-year-study-reveals-importance-of-lyso-gb1-in-monitoring-gaucher-disease-patients\/","title":{"rendered":"Estudo de quatro anos revela a import\u00e2ncia da Lyso-Gb1 no monitoramento de pacientes com doen\u00e7a de Gaucher."},"content":{"rendered":"<p>Em um artigo publicado em junho de 2019 no <em>Revista Internacional de Ci\u00eancias Moleculares<\/em>, Um estudo de quatro anos com 81 crian\u00e7as que sofrem da Doen\u00e7a de Gaucher (DG) em diferentes graus de gravidade revela que a glicosilfingosina (liso-Gb1) \u00e9 um biomarcador extremamente preciso para o monitoramento de crian\u00e7as com DG.<\/p>\n<p>O estudo \u2014 o primeiro do g\u00eanero a avaliar se o lyso-Gb1 desempenha um papel no monitoramento de crian\u00e7as tratadas e n\u00e3o tratadas \u2014 identifica o papel fundamental que o lyso-Gb1 pode desempenhar no monitoramento do tratamento em crian\u00e7as. Iniciado em 2014, o estudo avaliou os n\u00edveis de lyso-Gb1 em crian\u00e7as sob os cuidados do Centro M\u00e9dico Shaare Zedek em Jerusal\u00e9m, Israel, utilizando um biomarcador patenteado desenvolvido pela CENTOGENE. Estudos anteriores sobre o lyso-Gb1 como biomarcador focaram apenas em pacientes adultos com doen\u00e7a de Graves.<\/p>\n<p>Os resultados do estudo revelaram:<\/p>\n<p>Uma correla\u00e7\u00e3o significativa entre:<\/p>\n<ul>\n<li>lyso-Gb1 e contagem de plaquetas em crian\u00e7as com GD1 leve<\/li>\n<li>N\u00edveis de liso-Gb1 e hemoglobina em crian\u00e7as com GD1 grave.<\/li>\n<\/ul>\n<p>Uma correla\u00e7\u00e3o inversa significativa entre:<\/p>\n<ul>\n<li>lyso-Gb1 e contagem de plaquetas em crian\u00e7as n\u00e3o tratadas<\/li>\n<li>lyso-Gb1 e n\u00edvel de hemoglobina em crian\u00e7as tratadas<\/li>\n<\/ul>\n<p>\u201cJ\u00e1 foi comprovado que o Lyso-Gb1 \u00e9 um biomarcador altamente sens\u00edvel e espec\u00edfico para o diagn\u00f3stico e monitoramento de pacientes adultos com Doen\u00e7a de Gaucher\u201d, comentou o Prof. Arndt Rolfs, MD, CEO da CENTOGENE e um dos autores do estudo. \u201cOs biomarcadores s\u00e3o extremamente importantes no diagn\u00f3stico e monitoramento do tratamento de pacientes com doen\u00e7as raras e, em particular para crian\u00e7as com Doen\u00e7a de Gaucher, observamos que o Lyso-Gb1 \u00e9 um biomarcador extremamente eficaz no monitoramento do tratamento \u2013 e, de fato, deve ser inclu\u00eddo no acompanhamento de rotina desses pacientes.\u201d<\/p>\n<p>\u201cO aumento progressivo dos n\u00edveis de liso-Gb1 em crian\u00e7as com doen\u00e7a de Gaucher n\u00e3o tratadas sugere que esses pacientes devem receber terapia de reposi\u00e7\u00e3o enzim\u00e1tica\u201d, acrescentou o Prof. Ari Zimran, MD, do Centro M\u00e9dico Shaare Zedek da Universidade Hebraica de Jerusal\u00e9m, um especialista altamente reconhecido em doen\u00e7a de Gaucher e um dos autores do estudo. \u201cEste estudo internacional demonstrou uma correla\u00e7\u00e3o entre os n\u00edveis de liso-Gb1 e a gravidade da doen\u00e7a em crian\u00e7as com doen\u00e7a de Gaucher, bem como a import\u00e2ncia do uso desse biomarcador no monitoramento de crian\u00e7as tratadas e n\u00e3o tratadas.\u201d<\/p>\n<p>A doen\u00e7a de Gaucher est\u00e1 entre as doen\u00e7as de armazenamento lisoss\u00f4mico mais prevalentes, de heran\u00e7a recessiva, causadas por uma defici\u00eancia na enzima glicocerebrosidase.<\/p>\n<p>O artigo completo pode ser baixado. <a href=\"https:\/\/www.mdpi.com\/1422-0067\/20\/12\/3033\" target=\"_blank\" title=\"Baixe o documento\">aqui<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"<p>In a paper published in June 2019 in the International Journal of Molecular Sciences, a four-year study of 81 children [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2380","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is 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