{"id":21475,"date":"2011-11-09T15:34:30","date_gmt":"2011-11-09T18:34:30","guid":{"rendered":"http:\/\/www.inclusive.org.br\/?p=21475"},"modified":"2011-11-09T15:34:30","modified_gmt":"2011-11-09T18:34:30","slug":"novas-sindromes-geneticas","status":"publish","type":"post","link":"https:\/\/inclusivenews.com.br\/?p=21475","title":{"rendered":"Novas s\u00edndromes gen\u00e9ticas"},"content":{"rendered":"<figure style=\"width: 200px\" class=\"wp-caption alignleft\"><a class=\"moz-txt-link-freetext\" href=\"http:\/\/www.agencia.fapesp.br\/fotos\/2011\/45\/foto_dentro14751_1.jpg\"><img loading=\"lazy\" decoding=\"async\" title=\"C\u00e9lulas\" src=\"http:\/\/www.agencia.fapesp.br\/fotos\/2011\/45\/foto_dentro14751_1.jpg\" alt=\"\" width=\"200\" height=\"146\" \/><\/a><figcaption class=\"wp-caption-text\"> <\/figcaption><\/figure>\n<p><strong>Por Elton Alisson<br \/>\nAg\u00eancia FAPESP<\/strong><\/p>\n<p>Nos \u00faltimos 14 anos, um novo grupo de doen\u00e7as heredit\u00e1rias raras come\u00e7ou a ser identificado em diferentes partes do mundo. S\u00e3o causadas por defici\u00eancias gen\u00e9ticas da imunidade inata e, se n\u00e3o forem diagnosticadas precocemente e tratadas de forma adequada, podem levar a complica\u00e7\u00f5es graves de sa\u00fade.<\/p>\n<p>Para estudar a preval\u00eancia e melhorar a capacidade de diagn\u00f3stico no Brasil dessas novas doen\u00e7as, chamadas s\u00edndromes autoinflamat\u00f3rias heredit\u00e1rias, um grupo de pesquisadores de diferentes institui\u00e7\u00f5es no pa\u00eds e nos Estados Unidos realizou, nos \u00faltimos tr\u00eas anos, um estudo de abrang\u00eancia nacional.<\/p>\n<p>Os resultados da pesquisa ser\u00e3o apresentados no Encontro Cient\u00edfico Anual do Col\u00e9gio Americano de Reumatologia (ACR, na sigla em ingl\u00eas), que ocorre at\u00e9 9 de novembro em Chicago, nos Estados Unidos.<\/p>\n<p>Realizado com apoio da FAPESP e das sociedades brasileiras de Pediatria e Reumatologia, o <strong><a href=\"http:\/\/www.bv.fapesp.br\/pt\/projetos-regulares\/25834\/avaliacao-clinica-genetica-sindromes-autoinflamatorias\/\" target=\"_blank\" rel=\"noopener\">projeto<\/a><\/strong> teve a participa\u00e7\u00e3o de pesquisadores das universidades de S\u00e3o Paulo (USP), Estadual de Campinas, do Estado do Rio de Janeiro, das federais de S\u00e3o Paulo, Rio de Janeiro, Goi\u00e1s e Pernambuco e do Instituto Nacional de Alergia e Doen\u00e7as Infecciosas (NIAID), nos Estados Unidos.<\/p>\n<p>Por meio da pesquisa foram identificados 103 pacientes no Brasil, entre adultos e crian\u00e7as, com suspeita cl\u00ednica de serem portadores de uma das cinco s\u00edndromes inflamat\u00f3rias mais prevalentes no mundo: febre familiar do Mediterr\u00e2neo; criopirinopatias; artrite granulomatosa pedi\u00e1trica; hiperimunoglobulinemia D ou defici\u00eancia de mevalatoquinase; e s\u00edndrome peri\u00f3dica associada ao receptor do fator de necrose tumoral.<\/p>\n<p>Entre esses 103 pacientes, os pesquisadores identificaram e sequenciaram os genes relacionados a essas cinco s\u00edndromes em cerca de um ter\u00e7o deles.<\/p>\n<p>\u201cComo essas s\u00edndromes s\u00e3o muito parecidas \u2013 os sintomas s\u00e3o iguais e tamb\u00e9m podem existir outras novas doen\u00e7as semelhantes a elas \u2013 n\u00e3o foram identificados e sequenciados os genes das doen\u00e7as apresentadas por cerca de dois ter\u00e7os dos pacientes\u201d, disse Clovis Artur Almeida da Silva, professor da USP e coordenador do projeto, \u00e0 <strong>Ag\u00eancia FAPESP.<\/strong><\/p>\n<p>O objetivo agora \u00e9 dar continuidade \u00e0 identifica\u00e7\u00e3o e ao sequenciamento gen\u00e9tico desses pacientes, de modo a aprimorar a capacidade de diagn\u00f3stico dessas doen\u00e7as, para as quais est\u00e3o surgindo novos tratamentos.<\/p>\n<p>\u201cAinda n\u00e3o temos condi\u00e7\u00f5es de avaliar todos os pacientes portadores dessas doen\u00e7as, cujo tratamento \u00e9 espec\u00edfico para cada uma delas\u201d, afirmou.<\/p>\n<p>Caracterizadas por febre peri\u00f3dica e sintomas inflamat\u00f3rios sist\u00eamicos recorrentes, como artrite, dores abdominais, manchas na pele e inflama\u00e7\u00f5es oculares e do sistema nervoso central, entre outras, essas doen\u00e7as est\u00e3o sendo diagnosticadas em todo o mundo. Entretanto, j\u00e1 se sabe que afetam, principalmente, popula\u00e7\u00f5es do Mediterr\u00e2neo, como turcos, arm\u00eanios, judeus sefarditas (origin\u00e1rios de pa\u00edses ib\u00e9ricos) e \u00e1rabes, devido \u00e0 consanguinidade.<\/p>\n<p>\u201cS\u00e3o muito comuns os casamentos entre parentes nessas popula\u00e7\u00f5es. Como essas doen\u00e7as s\u00e3o heredit\u00e1rias e t\u00eam heran\u00e7as distintas, elas acabam acometendo um maior n\u00famero de pessoas nessas regi\u00f5es geogr\u00e1ficas\u201d, explicou Silva. Em algumas dessas regi\u00f5es, a preval\u00eancia de casos das doen\u00e7as varia de 1 para 200 a de 1 para 1.000 pessoas.<\/p>\n<p>DIRA<\/p>\n<p>No Brasil, ainda n\u00e3o se sabe exatamente qual a preval\u00eancia. \u201cApresentamos os resultados da pesquisa inicial no Congresso Brasileiro de Reumatologia Pedi\u00e1trica, que ocorreu no in\u00edcio de outubro em Salvador, e diversos pesquisadores t\u00eam nos enviado e-mails relatando que t\u00eam pacientes com sintomas parecidos com os dessas doen\u00e7as. \u00c0 medida que elas forem mais divulgadas no Brasil, surgir\u00e3o outros novos casos\u201d, disse.<\/p>\n<p>Para identificar casos das doen\u00e7as no Brasil, foram coletadas amostras de soro sangu\u00edneo de casos cl\u00ednicos, com maior predomin\u00e2ncia da regi\u00e3o Sudeste e a aus\u00eancia da regi\u00e3o Norte, onde n\u00e3o foi registrado nenhum paciente portador dessas doen\u00e7as.<\/p>\n<p>Entre os casos cl\u00ednicos levantados, foram identificados os de duas crian\u00e7as que apresentavam inflama\u00e7\u00f5es cut\u00e2neas, como psor\u00edase e manchas na pele, e osteomielite n\u00e3o infecciosa.<\/p>\n<p>Os pesquisadores estimavam que as crian\u00e7as eram portadoras de uma s\u00edndrome inflamat\u00f3ria j\u00e1 identificada. Ao enviar os genes delas para serem sequenciados por outro pesquisador no Qatar, nos Emirados \u00c1rabes, o grupo brasileiro descobriu uma nova s\u00edndrome na popula\u00e7\u00e3o brasileira, batizada de DIRA.<\/p>\n<p>A descoberta ser\u00e1 publicada em uma das pr\u00f3ximas edi\u00e7\u00f5es da revista <em>Arthritis &amp; Rheumatism<\/em>, do Col\u00e9gio Americano de Reumatologia.<\/p>\n<p>Fonte: <a href=\"http:\/\/agencia.fapesp.br\/14751\">Ag\u00eancia FAPESP<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Nos \u00faltimos 14 anos, um novo grupo de doen\u00e7as heredit\u00e1rias raras come\u00e7ou a ser identificado em diferentes partes do mundo. S\u00e3o causadas por defici\u00eancias gen\u00e9ticas da imunidade inata e, se n\u00e3o forem diagnosticadas precocemente e tratadas de forma adequada, podem levar a complica\u00e7\u00f5es graves de sa\u00fade. Da Ag\u00eancia FAPESP.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-container-style":"default","site-container-layout":"default","site-sidebar-layout":"default","disable-article-header":"default","disable-site-header":"default","disable-site-footer":"default","disable-content-area-spacing":"default","footnotes":""},"categories":[4,37],"tags":[],"class_list":["post-21475","post","type-post","status-publish","format-standard","hentry","category-noticias","category-saude"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Novas s\u00edndromes gen\u00e9ticas -<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/inclusivenews.com.br\/?p=21475\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novas s\u00edndromes gen\u00e9ticas -\" \/>\n<meta property=\"og:description\" content=\"Nos \u00faltimos 14 anos, um novo grupo de doen\u00e7as heredit\u00e1rias raras come\u00e7ou a ser identificado em diferentes partes do mundo. 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