Browsing by Author "Fonseca, JE"
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- Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese populationPublication . Pimentel-Santos, FM; Ligeiro, D; Matos, M; Mourão, AF; Sousa, E; Pinto, P; Ribeiro, A; Sousa, M; Barcelos, A; Godinho, F; Cruz, M; Fonseca, JE; Guedes-Pinto, H; Trindade, H; Evans, DM; Brown, MA; Branco, JCOBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
- Portuguese recommendations for the use of biological and targeted synthetic diseasemodifying antirheumatic drugs in patients with rheumatoid arthritis – 2020 updatePublication . Fernandes, Bruno Miguel; Guimarães, F; Almeida, DE; Neto, A; Tavares-Costa, J; Ribeiro, AR; Quintal, Alberto; Pereira, JP; Silva, L; Nóvoa, TS; Faustino, A; Vaz, C; Khmelinskii, N; Samões, B; Dourado, E; Silva, JL; Barcelos, A; Mariz, E; Guerra, M; Santos, MJ; Silvério-António, M; Teixeira, RL; Romão, VC; Santos, H; Santos-Faria, D; Azevedo, S; Rodrigues, A; Dias, JM; Lopes, C; Pinto, P; Couto, M; Miranda, LC; Bernardo, A; Cruz, M; Teixeira, F; Mourão, AF; Neto, A; Teixeira, V; Cordeiro, A; Barreira, S; Inês, LS; Capela, S; Sepriano, A; Canhão, H; Fonseca, JE; Duarte, C; Bernardes, MObjective: To update the recommendations for the treatment of rheumatoid arthritis (RA) with biological and targeted synthetic disease-modifying antirheumatic drugs (bDMARDs and tsDMARDs), endorsed by the Portuguese Society of Rheumatology (SPR). Methods: These treatment recommendations were formulated by Portuguese rheumatologists taking into account previous recommendations, new literature evidence and consensus opinion. At a national meeting, in a virtual format, three of the ten previous recommendations were re-addressed and discussed after a more focused literature review. A first draft of the updated recommendations was elaborated by a team of SPR rheumatologists from the SPR rheumatoid arthritis study group, GEAR. The resulting document circulated among all SPR rheumatologists for discussion and input. The level of agreement with each of all the recommendations was anonymously voted online by all SPR rheumatologists. Results: These recommendations cover general aspects such as shared decision, treatment objectives, systematic assessment of disease activity and burden and its registry in Reuma.pt. Consensus was also achieved regarding specific aspects such as initiation of bDMARDs and tsDMARDs, assessment of treatment response, switching and definition of persistent remission. Conclusion: These recommendations may be used for guidance of treatment with bDMARDs and tsDMARDs in patients with RA. As more evidence becomes available and more therapies are licensed, these recommendations will be updated.
- Sex and body mass index impact on digit circumference for Leeds Dactylitis Index calculationPublication . Silvério-António, M; Rodrigues, AM; Teixeira, F; Tavares-Costa, J; Bernardo, A; Pimenta, S; Lagoas Gomes, J; Aguiar, R; Videira, T; Pinto, P; Santos, H; Sequeira, G; Teixeira, L; Ribeiro, RM; Fonseca, JE; Vieira-Sousa, EObjectives: To estimate digit circumference and the impact of sex and body mass index (BMI) for the calculation of the Leeds Dactylitis Index (LDI) in psoriatic arthritis (PsA) patients with bilateral dactylitis. Methods: Digit circumference of the hands and the foot were measured with a dactylometer and were studied according to sex and BMI (divided in 4 weight categories) in healthy Portuguese subjects, using Student's t-test and One-way ANOVA, respectively. The effect size of sex and BMI were calculated using Cohen's d test and Eta squared, respectively. Multiple linear regression was used to calculate the effect of sex and BMI, as well as their interaction, to create a formula to predict digit circumference. Results: Fifty-nine participants (33 women, 26 men) with a mean BMI of 24.8 were included. Men's mean digit circumferences were statistically higher than those of women (p<0.001), with a large sex effect size in most of the digits. Differences in the mean circumference between the four BMI categories were statistically significant (p<0.05) for all digits, with a large BMI effect size. Sex and BMI were independent variables to predict mean digit circumference (p<0.001). A new tool (based on regression analysis) allowing to estimate the circumference of digits for males and females of different BMIs is presented. Conclusions: Our data allows the calculation of digit circumference for males and females of different BMIs in the Portuguese population; and shows that BMI influences digital circumference supporting BMI inclusion in LDI references tables
- Spectrum of ankylosing spondylitis in Portugal. Development of BASDAI, BASFI, BASMI and mSASSS reference centile chartsPublication . Pimentel-Santos, FM; Mourão, AF; Ribeiro, C; Costa, J; Santos, H; Barcelos, A; Pinto, P; Godinho, F; Cruz, M; Vieira-Sousa, E; Santos, RA; Rabiais, S; Félix, J; Fonseca, JE; Guedes-Pinto, H; Brown, MA; CORPOREA Study GroupThe availability of population-specific normative data regarding disease severity measures is essential for patient assessment. The goals of the current study were to characterize the pattern of ankylosing spondylitis (AS) in Portuguese patients and to develop reference centile charts for BASDAI, BASFI, BASMI and mSASSS, the most widely used assessment tools in AS. AS cases were recruited from hospital outpatient clinics, with AS defined according to the modified New York criteria. Demographic and clinical data were recorded. All radiographs were evaluated by two independent experienced readers. Centile charts for BASDAI, BASFI, BASMI and mSASSS were constructed for both genders, using generalized linear models and regression models with duration of disease as independent variable. A total of 369 patients (62.3% male, mean ± (SD) age 45.4 ± 13.2 years, mean ± (SD) disease duration 11.4 ± 10.5 years, 70.7% B27-positive) were included. Family history of AS in a first-degree relative was reported in 17.6% of the cases. Regarding clinical disease pattern, at the time of assessment 42.3% had axial disease, 2.4% peripheral disease, 40.9% mixed disease and 7.1% isolated enthesopatic disease. Anterior uveitis (33.6%) was the most common extra-articular manifestation. The centile charts suggest that females reported greater disease activity and more functional impairment than males but had lower BASMI and mSASSS scores. Data collected through this study provided a demographic and clinical profile of patients with AS in Portugal. The development of centile charts constitutes a useful tool to assess the change of disease pattern over time and in response to therapeutic interventions.
- The GO-DACT is an investigator-initiated, national, multicentric randomized placebo-controlled double-blinded trial, that assesses dactylitis as primary endpoint. Psoriatic arthritis patients naïve to methotrexate and biologic disease modifying anti-rheumatic drugs, with at least one active dactylitis, were assigned to golimumab in combination with methotrexate or placebo in combination with methotrexate, for 24 weeks. Both clinical (dactylitis severity score and the Leeds dactylitis index) and imaging (high resolution magnetic resonance imaging), among others, were assessed as outcomes. The main objective of GO-DACT is to provide evidence to improve the treatment algorithm and care of psoriatic arthritis patients with active dactylitis. In this manuscript we describe the GO-DACT protocol and general concepts of the methodology of this trial.Publication . Vieira-Sousa, E; Canhão, H; Alves, P; Rodrigues, AM; Teixeira, F; Tavares-Costa, J; Bernardo, A; Pimenta, S; Pimentel-Santos, .; Gomes, JL; Aguiar, R; Videira, T.; Pinto, P; Catita, C; Santos, H; Borges, J.; Sequeira, G.; Ribeiro, C.; Teixeira, L.; Ávila-Ribeiro, P; Martins, FM; Ribeiro, RM; Fonseca, JEThe GO-DACT is an investigator-initiated, national, multicentric randomized placebo-controlled double-blinded trial, that assesses dactylitis as primary endpoint. Psoriatic arthritis patients naïve to methotrexate and biologic disease modifying anti-rheumatic drugs, with at least one active dactylitis, were assigned to golimumab in combination with methotrexate or placebo in combination with methotrexate, for 24 weeks. Both clinical (dactylitis severity score and the Leeds dactylitis index) and imaging (high resolution magnetic resonance imaging), among others, were assessed as outcomes. The main objective of GO-DACT is to provide evidence to improve the treatment algorithm and care of psoriatic arthritis patients with active dactylitis. In this manuscript we describe the GO-DACT protocol and general concepts of the methodology of this trial.