F M Pimentel-Santos

Publications (2)4.14 Total impact

• Article: Portuguese version of the bath indexes for ankylosing spondylitis patients: a cross-cultural adaptation and validation.

  F M Pimentel-Santos, T Pinto, H Santos, A Barcelos, I Cunha, J C Branco, P L Ferreira
  [show abstract] [hide abstract]
  ABSTRACT: 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.
  Clinical Rheumatology 02/2012; 31(2):341-6. · 2.00 Impact Factor
• Article: Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population.

  F M Pimentel-Santos, D Ligeiro, M Matos, A F Mourão, E Sousa, P Pinto, A Ribeiro, M Sousa, A Barcelos, F Godinho, M Cruz, J E Fonseca, H Guedes-Pinto, H Trindade, D M Evans, M A Brown, J C Branco
  [show abstract] [hide abstract]
  ABSTRACT: Association between ankylosing spondylitis (AS) and two genes, ERAP1 and IL23R, has recently been reported in North American and British populations. The population attributable risk fraction for ERAP1 in this study was 25%, and for IL23R, 9%. Confirmation of these findings to ERAP1 in other ethnic groups has not yet been demonstrated. We sought to test the association between single nucleotide polymorphisms (SNPs) in these genes and susceptibility to AS among a Portuguese population. We also investigated the role of these genes in clinical manifestations of AS, including age of symptom onset, the Bath Ankylosing Spondylitis Disease Activity, Metrology and Functional Indices, and the modified Stoke Ankylosing Spondylitis Spinal Score. The study was conducted on 358 AS cases and 285 ethnically matched Portuguese healthy controls. AS was defined according to the modified New York Criteria. Genotyping of IL23R and ERAP1 allelic variants was carried out with TaqMan allelic discrimination assays. Association analysis was performed using the Cochrane-Armitage and linear regression tests of genotypes as implemented in PLINK for dichotomous and quantitative variables respectively. A meta-analysis for Portuguese and previously published Spanish IL23R data was performed using the StatsDirect Statistical tools, by fixed and random effects models. A total of 14 nsSNPs markers (8 for IL23R, 5 for ERAP1, 1 for LN-PEP) were analysed. Three markers (2 for IL23R and 1 for ERAP1) showed significant single-locus disease associations, confirming that the association of these genes with AS in the Portuguese population. The strongest associated SNP in IL23R was rs1004819 (OR=1.4, p=0.0049), and in ERAP1 was rs30187 (OR=1.26, p=0.035). The population attributable risk fractions in the Portuguese population for these SNPs are 11% and 9.7% respectively. No association was seen with any SNP in LN-PEP, which flanks ERAP1 and was associated with AS in the British population. No association was seen with clinical manifestations of AS. These results show that IL23R and ERAP1 genes are also associated with susceptibility to AS in the Portuguese population, and that they contribute a significant proportion of the population risk for this disease.
  Clinical and experimental rheumatology 27(5):800-6. · 2.15 Impact Factor