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The Bath Ankylosing Spondylitis Activity Index (BASDAI), Functional Index (BASFI), Metrology Index (BASMI), and Global Score (BASG) are commonly used to assess patients with ankylosing spondylitis (AS). The aim of this study was to cross-culturally adapt and validate these indexes into the Portuguese language. Seventy-eight patients were included in the study. After forward and backward translations, the questionnaires were administered and tested for internal consistency, test-retest reliability, face validity, content validity, and construct validity. The outcome measures HAQ, EQ-5D, and SF-36 were also implemented. Metrological parameters (BASMI components) and chest expansion were evaluated. Correlation coefficients for test-retest were 0.875, 0.937, 0.831, and 0.961 for BASDAI, BASFI, BASMI, and BASG, respectively. Internal consistency coefficients were between 0.747 and 0.953. The adapted and translated questionnaires demonstrated an acceptable comprehensibility by a panel of patients, and face validity was assured by the cognitive debriefing performed. Content validity was assured by comparing the scores obtained by the questionnaires when age and gender, age of symptoms onset, and disease duration were considered. Construct validity was assured by significant correlations established between the Bath scores and generic health status HAQ, EQ-5D and SF-36, morning stiffness duration, chest expansion, and physician disease activity assessment. The Portuguese version of the BASDAI, BASFI, BASG, and BASMI showed adequate reliability and validity in patients with AS. The measurement properties were comparable to versions in other languages, indicating that the indexes can be used for evaluation of Portuguese-speaking AS patients.

Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPs were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.

Juvenile dermatomyositis (JDM) is a rare systemic disease of unknown etiology characterized by inflammation of the muscle, skin and digestive tract, with variable outcome. The diagnostic criteria include proximal symmetrical muscular weakness, characteristic skin rashes, elevation of skeletal muscle enzymes and specific electromyographic and muscle biopsy abnormalities. Pulmonary and gastro-intestinal involvements, calcinosis and generalized edema usually indicate severe disease. Recent data suggest an association between the genotype -308 AA of the Tumour Necrosis Factor (TNF) gene and disease chronicity. We present a case of a 14 year-old female with JDM and generalized oedema which is a rare manifestation of the disease and it is associated to a poor outcome.

To verify if the response to TNFalpha inhibitors is influenced by the presence of IgM rheumatoid factor (RF), in patients with RA.In this study, the patients with the diagnosis of RA treated with TNFa inhibitors followed in our hospital were recruited. A protocol was applied including demographic, clinical and laboratory data, in order to calculate DAS 28. The presence/absence of IgM RF and associated therapies were record.Fifty-seven patients, 52 female, with a mean duration of anti-TNFa treatment of 30,9+/-15,9 months were studied. Twenty-four patients were being treated with infliximab, 17 with adalimumab and 16 with etanercept. Forty-one patients had IgM RF detectable in serum (RF positive group). In the RF positive group, the variation of DAS 28 was -1,75 +/- 1,53 vs -1,04 +/- 1,76 in the RF negative group (p=0,135). The mean duration of anti-TNFalpha treatment was similar in both groups (31,9+/-15,9 vs 29,5+/-16,16 months). Patients who were treated with methotrexate presented a higher variation of DAS 28 (-1,87 +/- 1,70 vs -0,80 +/- 1,09; p=0,041) and this variation was dose dependent (p=0,056).Despite needing a replication in a larger cohort, our results suggest that the presence of IgM RF in the serum did not interfere with the response to treatment with TNFalpha inhibitors.

Among the many radiological findings seen in Rheumatoid Arthritis RA small subchondral geodes and erosions are typical. Large geodes are far less common abnormalities and their presence may indicate diagnostic and therapeutic difficulties. We present a case report of a 55-year old woman with seronegative RA that developed a large geode in the knee with extensive joint destruction.