Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/50101
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dc.contributor.authorRosé, Carlos D.en_US
dc.contributor.authorPans, Stevenen_US
dc.contributor.authorCasteels, Ingeleen_US
dc.contributor.authorAnton, Jordien_US
dc.contributor.authorBader-Meunier, Brigitteen_US
dc.contributor.authorBrissaud, Philippeen_US
dc.contributor.authorCimaz, Rolanden_US
dc.contributor.authorEspada, Graciellaen_US
dc.contributor.authorFernandez-martin, Jorgeen_US
dc.contributor.authorHachulla, Ericen_US
dc.contributor.authorHarjacek, Miroslaven_US
dc.contributor.authorKhubchandani, Rajuen_US
dc.contributor.authorMackensen, Friederikeen_US
dc.contributor.authorMerino, Rosaen_US
dc.contributor.authorNaranjo, Antonioen_US
dc.contributor.authorOliveira-Knupp, Sheilaen_US
dc.contributor.authorPajot, Christineen_US
dc.contributor.authorRusso, Ricardoen_US
dc.contributor.authorThomée, Carolineen_US
dc.contributor.authorVastert, Sebastiaanen_US
dc.contributor.authorWulffraat, Nicoen_US
dc.contributor.authorArostegui, Juan I.en_US
dc.contributor.authorFoley, Kevin P.en_US
dc.contributor.authorBertin, Johnen_US
dc.contributor.authorWouters, Carine H.en_US
dc.contributor.otherNaranjo Hernandez, Antonio-
dc.contributor.otherAnton, Jordi-
dc.contributor.otherbader-meunier, brigitte-
dc.contributor.otherRusso, Ricardo-
dc.contributor.otherKhubchandani, Raju-
dc.contributor.otherArostegui, Juan Ignacio-
dc.contributor.otherHACHULLA, ERIC-
dc.date.accessioned2018-11-24T13:18:23Z-
dc.date.available2018-11-24T13:18:23Z-
dc.date.issued2015en_US
dc.identifier.issn1462-0324en_US
dc.identifier.urihttp://hdl.handle.net/10553/50101-
dc.description.abstractObjective. To report baseline articular, functional and ocular findings of the first international prospective cohort study of Blau syndrome (BS). Methods. Three-year, multicentre, observational study on articular, functional (HAQ, Childhood HAQ and VAS global and pain), ophthalmological, therapeutic and radiological data in BS patients. Results. Baseline data on the first 31 recruited patients (12 females and 19 males) from 18 centres in 11 countries are presented. Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees. Median disease duration was 12.8 years (1.1–57). Arthritis, documented in all but one patient, was oligoarticular in 7, polyarticular in 23. The median active joint count was 21. Functional capacity was normal in 41%, mildly impaired in 31% and moderate–severe in 28% of patients. The most frequently involved joints at presentation were wrists, ankles, knees and PIPs. On radiographs, a symmetrical non-erosive arthropathy was shown. Previously unknown dysplastic bony changes were found in two-thirds of patients. Ocular disease was documented in 25 of 31 patients, with vitreous inflammation in 64% and moderate–severe visual loss in 33%. Expanded manifestations (visceral, vascular) beyond the classic clinical triad were seen in 52%. Conclusion. BS is associated with severe ocular and articular morbidity. Visceral involvement is common and may be life-threatening. Bone dysplastic changes may show diagnostic value and suggest a previously unknown role of NOD2 in bone morphogenesis. BS is resistant to current drugs, suggesting the need for novel targeted therapies.en_US
dc.languageengen_US
dc.relation.ispartofRheumatologyen_US
dc.sourceRheumatology (United Kingdom)[ISSN 1462-0324],v. 54(6) ), p. 1008-1016 (Junio 2015)en_US
dc.subject32 Ciencias médicasen_US
dc.subject3201 Ciencias clínicasen_US
dc.subject320509 Reumatologíaen_US
dc.subject.otherBlau syndromeen_US
dc.subject.otherSarcoidosisen_US
dc.subject.otherNOD2en_US
dc.subject.otherUveitisen_US
dc.titleBlau syndrome: Cross-sectional data from a multicentre study of clinical, radiological and functional outcomesen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1093/rheumatology/keu437en_US
dc.identifier.scopus84938526483-
dc.identifier.isi000357429600007-
dcterms.isPartOfRheumatology-
dcterms.sourceRheumatology[ISSN 1462-0324],v. 54 (6), p. 1008-1016-
dc.contributor.authorscopusid56768848800-
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dc.contributor.authorscopusid7006030412-
dc.description.lastpage1016en_US
dc.identifier.issuekeu437-
dc.description.firstpage1008en_US
dc.relation.volume54en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.identifier.wosWOS:000357429600007-
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dc.identifier.investigatorRIDE-7910-2010-
dc.identifier.investigatorRIDA-9848-2017-
dc.identifier.investigatorRIDNo ID-
dc.identifier.investigatorRIDNo ID-
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dc.description.numberofpages9en_US
dc.utils.revisionen_US
dc.date.coverdateJunio 2015en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,849-
dc.description.jcr4,524-
dc.description.sjrqQ1-
dc.description.jcrqQ1-
dc.description.scieSCIE-
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Grupo de investigaciones infecciosas, nutricionales e inflamatorias en pacientes hospitalarios / Study Group on infectious, nutritional and inflammatory diseases in hospitalized patients-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0002-2013-6664-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameNaranjo Hernández, Antonio-
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