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Objectives: We aimed to investigate muscle physical properties, strength, mass, physical performance, and the prevalence of sarcopenia in patients with axial spondylarthritis (axSpA) compared to the healthy controls (HC)., Methods: We performed a cross-sectional study on 54 participants: 27 patients with axSpA and 27 HC, matched by age, gender, and level of physical activity. Muscle physical properties (stiffness, tone and elasticity), muscle strength (five-times sit-to-stand [5STS] test), muscle mass, physical performance (measured through gait speed) and sarcopenia were compared between the groups. Linear regression models were conducted allowing adjustment for relevant variables., Results: Patients with axSpA (mean age 36.5 (SD 7.5) years, 67% males, mean disease duration 6.5 (3.2) years) had no significant difference in segmental muscle stiffness, tone or elasticity, compared with the HC, despite showing a slight numerically higher lower lumbar (L3-L4) stiffness [median 246.5 (IQR 230.5-286.5) vs. 232.5 (211.0-293.5), p=0.38]. No participants presented sarcopenia. Patients with axSpA, compared to the HC, had lower total strength [B=1.88 (95% CI 0.43;3.33)], as well as lower strength in the upper (B=-17.02 (-27.33;-6.70)] and lower limbs [B=-11.14 (-18.25;-4.04)], independently of muscle physical properties. Patients had also significantly lower gait speed than the HC [B=-0.11 (-0.21;-0.01)], adjusted for muscle mass, strength and muscle physical properties., Conclusions: Young axSpA patients with a relatively short disease duration presented similar segmental muscle physical properties as the HC and had no sarcopenia. Patients with axSpA had reduced physical performance and lower strength compared to the HC, despite normal muscle mass, suggesting a possible muscle dysfunction. Gait characteristics may be a potential biomarker of interest in axSpA.

Objectives: To determine if experienced health care providers (HCPs) can recognise patients with fibromyalgia (FM) based on a limited set of personality items, exploring the existence of a FM personality., Methods: From the 240-item NEO-PI-R personality questionnaire, 8 HCPs from two different countries each selected 20 items they considered most discriminative of FM personality. Then, evaluating the scores on these items of 129 female patients with FM and 127 female controls, each HCP rated the probability of FM for each individual on a 0-10 scale. Personality characteristics (domains and facets) of selected items were determined. Scores of patients with FM and controls on the eight 20-item sets, and HCPs' estimates of each individual's probability of FM were analysed for their discriminative value., Results: The eight 20-item sets discriminated for FM, with areas under the receiver operating characteristic curve ranging from 0.71-0.81. The estimated probabilities for FM showed, in general, percentages of correct classifications above 50%, with rising correct percentages for higher estimated probabilities. The most often chosen and discriminatory items were predominantly of the domain neuroticism (all with higher scores in FM), followed by some items of the facet trust (lower scores in FM)., Conclusions: HCPs can, based on a limited set of items from a personality questionnaire, distinguish patients with FM from controls with a statistically significant probability. The HCPs' expectation that personality in FM patients is associated with higher levels for aspects of neuroticism (proneness to psychological distress) and lower scores for aspects of trust, proved to be correct.

Objective: 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.

Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant trait with complete penetrance but variable expressivity. Onset is typically in childhood and progressive involvement of the spine and proximal extremities leads to immobility and articular dysfunction. We present two cases with the typical features of FOP and a review of the pathogenesis, clinical manifestations and treatment options of this rare disease.