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Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Co...
Gonçalves, Maria J; Mourão, Ana F; Martinho, António; Simões, Olívia; Melo-Gomes, José; Salgado, Manuel; Estanqueiro, Paula; Ribeiro, Célia; Brito, IvaFabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a coh...
Genetic Predictors of Poor Prognosis in Portuguese Patients with Juvenile Idiop...
Mourão, Ana Filipa; Santos, Maria José; Mendonça, Sílvia; Oliveira-Ramos, Filipa; Salgado, Manuel; Estanqueiro, Paula; Melo-Gomes, JoséIntroduction. This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA). Methods. Our study was conducted in Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA. We collected prospectively patient and disease characteristics and a blood sample for DNA analysis. Poor prognosis was defined as CHAQ/HAQ >0.7...
Using the juvenile arthritis disease activity score based on erythrocyte sedime...
Mourão, Ana Filipa; Santos, Maria J.; Melo-Gomes, José; Martins, Fernando M.; Costa, José A.; Ramos, Filipa; Brito, Iva; Duarte, CátiaObjective Our aims were to evaluate the correlation between Juvenile Arthritis Disease Activity Score 27-joint reduced count (JADAS27) with erythrocyte sedimentation rate (ESR) and JADAS27 with C-reactive protein (CRP) scores and to test the agreement of both scores on classifying each disease activity state. We also aimed at verifying the correlation of the 2 scores across juvenile idiopathic arthritis (JIA) c...