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Background: Fibromyalgia (FM) remains a relatively misunderstood and clinically challenging condition that impact significantly in the individual's life, impairing global functioning and diminishing quality of life. Management is complex and frequently unsatisfactory, requiring personal tailoring and adaptation of interventions according to the fluctuations of the di - sease manifestations and their response to therapy. The use of comprehensive and quantified assessment tools constitutes, therefore, an essential component of the management of patients with FM. The Revised Fibromyalgia Impact Questionnaire (FIQR) is currently one of the most used and well validated instruments to assess functional (in)capacity and global impact of FM and associated symptoms. Objectives: To translate to Portuguese the FIQR and to study its psychometric properties. Material and Methods: The total sample comprised 103 women with fibromyalgia, defined according to the established criteria for FM. A self-report battery composed by the Revised Fibromyalgia Impact Questionnaire (FIQR), and the Portuguese versions of Beck Depression Inventory-II (BDI-II) and the Profile of Mood States (PoMS) was administered. The FIQR was re-administered to twenty-four participants, six weeks after the first evaluation. Internal reliability was assessed through Cronbach's alpha, corrected item-total score correlations and alpha if item deleted. Spearman and Pearson correlations along with repeated measures tests were computed to assess the temporal stability of the scale. Convergent and divergent validity were assessed via Spearman and Pearson correlations. Results: The FIQR demonstrated a good to very good internal consistency (from a = 0.87 to a = 0.94). All items correlated to a good degree (above 0.30) to the total score and contributed significantly to the overall reliability. Moreover, FIQR presented a good temporal stability (from r = .617 to r = .886, p = .001) and favorable convergent and discriminant validity with depressive symptoms (r > .289, p = .01) and positive (r > -.186, p > .05) and negative affect (r > .206, p = .05). Conclusions: The Portuguese version of the FIQR demonstrated good psychometric properties, which renders it a proper and valuable tool to be used in diffe - rent settings. [ABSTRACT FROM AUTHOR]

Introduction: Parameniscal cysts are small cystic lesions, near the meniscus, involving medial and lateral compartments at equal frequency. Frequently, parameniscal cysts are so small that patients do not notice them, being asymptomatic. However, they can grow and exceed 2 centimeters in diameter, causing pain and alarm due to the slow growing mass. Magnetic Resonance Imaging (MRI) is the gold standard for diagnosis., Methods: Case report of a patient admitted to rheumatology department in the Centro Hospitalar e Universitário de Coimbra., Results: We report a case of a 47-year-old male with idiopathic juvenile arthritis, who presented with a slow-growing mass over the medial aspect of the right knee. MRI revealed a conspicuous cystic ovoid lesion, compatible with a parameniscal cyst, associated with structural heterogeneity of the posterior edge of the internal meniscus with a longitudinal fracture at this level., Conclusion: This is the first case of parameniscal cyst reported in patients with inflammatory rheumatic disease and the differential diagnosis with synovial cyst, baker cyst, ganglion cyst, bursitis, hematoma and neoplasms is of utmost importance.

Objectives: Salivary glands ultrasonography has recently been shown to be useful in the diagnosis of Primary Sjögren's Syndrome (pSS). Shear-wave elastography (SWE) is a promising tool for the quantitative assessment of tissues stiffness, but studies evaluating its role in pSS diagnosis are limited. This study aimed at investigating the diagnostic performance of SWE in pSS., Materials and Methods: Cross-sectional study including patients fulfilling the 2016 ACR/EULAR classification criteria for pSS and healthy subjects. The four major salivary glands were assessed using SGUS. B-mode scans were rated using the Hočevar score, and shear-wave velocity (SWV) values were obtained using SWE. Intraclass-correlation coefficient (ICC) estimates were used to assess reliability. Cut-off values for differentiating pSS patients from healthy subjects were calculated using Receiver-Operating Characteristics (ROC) curves., Results: We included 50 pSS and 25 healthy subjects. Inter-rater reliability of SWE was moderate (ICC=0.64) and intra-rater reliability was moderate to good (ICC= 0.73 to 0.83). Total SWV (2.09 m/s (0.32); p < 0.001), parotid SWV (2.25 m/s (0.40)) and submandibular SWV (1.92 m/s (0.38)) were significantly higher in pSS patients. Total and parotid SWV presented good diagnostic performance for pSS diagnosis (AUROC= 0.80 and 0.81, respectively). The Hočevar score demonstrated excellent diagnostic performance (AUROC= 0.98) and combining it with total SWV did not result in statistically significant improvement (p=0.301)., Conclusions: SWE may contribute to the diagnosis of pSS. Large prospective studies including sicca and secondary SS patients, as well as the standardisation of SWE protocols, are warranted to assess the role of SWE in pSS management.

Rheumatoid arthritis (RA) is a disabling autoimmune disease whose treatment is ineffective for one-third of patients. Thus, the immunomodulatory potential of mesenchymal stromal/stem cells (MSCs) makes MSC-based therapy a promising approach to RA. This study aimed to explore the immunomodulatory action of human bone marrow (BM)-MSCs on myeloid dendritic cells (mDCs) and monocytes, especially on cytokines/chemokines involved in RA physiopathology. For that, LPS plus IFNγ-stimulated peripheral blood mononuclear cells from RA patients (n = 12) and healthy individuals (n = 6) were co-cultured with allogeneic BM-MSCs. TNF-α, CD83, CCR7 and MIP-1β protein levels were assessed in mDCs, classical, intermediate, and non-classical monocytes. mRNA expression of other cytokines/chemokines was also evaluated. BM-MSCs effectively reduced TNF-α, CD83, CCR7 and MIP-1β protein levels in mDCs and all monocyte subsets, in RA patients. The inhibition of TNF-α production was mainly achieved by the reduction of the percentage of cellsproducing this cytokine. BM-MSCs exhibited a remarkable suppressive action over antigen-presenting cells from RA patients, potentially affecting their ability to stimulate the immune adaptive response at different levels, by hampering their migration to the lymph node and the production of proinflammatory cytokines and chemokines. Accordingly, MSC-based therapies can be a valuable approach for RA treatment, especially for non-responder patients.

COVID-19 pandemic significantly increased the already large number of victims of osteoporosis in Portugal. Osteoporosis outpatient clinics were either closed or had limited presential appointments. Many hospitals reduced orthopaedic services to make space for patients with COVID-19. In addition, the volunteer or forced sedentarism, as imposed by the pandemic, increased the risk of falls and fractures drastically. It urges to intensify the current efforts to improve the management of bone health and to prioritize fragility fracture care and prevention. This paper addresses the challenges in osteoporosis management during the COVID-19 pandemic and provides guidance on osteoporosis management. This position paper is a joint initiative of several health professionals and patients dedicated to osteoporosis.

Background: The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reuma.pt, is a web-based electronic clinical record, created in 2008, which currently includes specific modules for 12 diseases and > 20,000 patients registered from 79 rheumatology centres. On October 2014, a dedicated module for vasculitis was created as part of the European Vasculitis Society collaborative network, enabling prospective collection and central storage of encrypted data from patients with this condition. All Portuguese rheumatology centres were invited to participate. Data regarding demographics, diagnosis, classification criteria, assessment tools, and treatment were collected. We aim to describe the structure of Reuma.pt/vasculitis and characterize the patients registered since its development., Results: A total of 687 patients, with 1945 visits, from 13 centres were registered; mean age was 53.4 ± 19.3 years at last visit and 68.7% were females. The most common diagnoses were Behçet's disease (BD) (42.5%) and giant cell arteritis (GCA) (17.8%). Patients with BD met the International Study Group criteria and the International Criteria for BD in 85.3 and 97.2% of cases, respectively. Within the most common small- and medium-vessel vasculitides registered, median [interquartile range] Birmingham Vasculitis Activity Score (BVAS) at first visit was highest in patients with ANCA-associated vasculitis (AAV) (17.0 [12.0]); there were no differences in the proportion of patients with AAV or polyarteritis nodosa who relapsed (BVAS≥1) or had a major relapse (≥1 major BVAS item) during prospective assessment (p = 1.00, p = 0.479). Biologic treatment was prescribed in 0.8% of patients with GCA, 26.7% of patients with AAV, and 7.6% of patients with BD. There were 34 (4.9%) deaths reported., Conclusions: Reuma.pt/vasculitis is a bespoke web-based registry adapted for routine care of patients with this form of rare and complex diseases, allowing an efficient data-repository at a national level with the potential to link with other international databases. It facilitates research, trials recruitment, service planning and benchmarking.

Antisynthetase syndrome (ASSD) is a rare clinical condition that is characterized by the occurrence of a classic clinical triad, encompassing myositis, arthritis, and interstitial lung disease (ILD), along with specific autoantibodies that are addressed to different aminoacyl tRNA synthetases (ARS). Until now, it has been unknown whether the presence of a different ARS might affect the clinical presentation, evolution, and outcome of ASSD. In this study, we retrospectively recorded the time of onset, characteristics, clustering of triad findings, and survival of 828 ASSD patients (593 anti-Jo1, 95 anti-PL7, 84 anti-PL12, 38 anti-EJ, and 18 anti-OJ), referring to AENEAS (American and European NEtwork of Antisynthetase Syndrome) collaborative group's cohort. Comparisons were performed first between all ARS cases and then, in the case of significance, while using anti-Jo1 positive patients as the reference group. The characteristics of triad findings were similar and the onset mainly began with a single triad finding in all groups despite some differences in overall prevalence. The "ex-novo" occurrence of triad findings was only reduced in the anti-PL12-positive cohort, however, it occurred in a clinically relevant percentage of patients (30%). Moreover, survival was not influenced by the underlying anti-aminoacyl tRNA synthetase antibodies' positivity, which confirmed that antisynthetase syndrome is a heterogeneous condition and that antibody specificity only partially influences the clinical presentation and evolution of this condition.

Objective: The objective of this paper is to evaluate the performance of the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI-2K) in detecting clinically meaningful changes in SLE disease activity., Methods: A longitudinal cohort study was conducted of 334 SLE patients during a 36-month follow-up. At each outpatient visit, disease activity was scored using the Physician Global Assessment (PGA) and SLEDAI-2K. Correlations between PGA and SLEDAI-2K were assessed. A clinically meaningful change in SLE disease activity was defined as a ΔPGA ≥ 0.3 points from baseline. Performance of SLEDAI-2K in detecting a clinically meaningful worsening or improvement was tested using receiver operating characteristic (ROC) analysis., Results: Adjusted mean PGA and SLEDAI-2K scores presented a high correlation (rho = 0.824, p < 0.0005). In ROC analysis, a SLEDAI-2K variation presented an area under the curve (AUC) of 0.697 (95% confidence interval (CI) (0.628-0.766), p < 0.0005) to detect a clinically meaningful improvement, with a sensitivity of 28.8% for a SLEDAI-2K ≥ 4 reduction. The AUC to detect a clinically meaningful worsening was 0.877 (95% CI (0.822-0.932), p < 0.0005), with a sensitivity of 35.3%., Conclusions: SLEDAI-2K has a limited ability to detect clinically meaningful changes in SLE disease activity, failing to identify almost two-thirds of cases judged as having a clinically meaningful improvement or worsening. There is a need for more sensitive SLE disease activity measures in clinical practice and research.

Objective: The objective of this paper is to assess overactive bladder (OAB) symptom bother (SB) and health-related quality of life (HRQL) among patients with systemic lupus erythematosus (SLE) and primary Sjögren syndrome (pSS)., Methods: We recruited adult SLE and pSS patients and two groups of age- and sex-matched controls. We applied the OAB questionnaire-short form (OABq-SF) to all participants to assess SB and HRQL and collected clinical information relevant for OAB. We compared the OABq-SF scores for SB and HRQL between patients and controls using univariate and multivariate linear regression analysis., Results: We recruited 95 rheumatic patients (68 SLE, 27 pSS) and 231 controls. Compared to controls SLE patients showed higher OABq-SF SB scores (22.6 ± 20.4 vs 14.7 ± 17.0, p = 0.004) and lower HRQL scores (89.8 ± 15.8 vs 93.8 ± 11.4, p = 0.044). On multivariate analysis SLE was significantly associated with a higher SB score (ß-coefficient 7.13, p = 0.008) and tended to be associated with worse HRQL values (ß-coefficient -3.53, p = 0.055). Patients with pSS had numerically higher mean SB scores (22.8 ± 22.5 vs 16.2 ± 18.0, respectively, p = 0.107) and lower HRQL scores (91.0 ± 10.7 vs 93.2 ± 11.6, respectively, p = 0.369), although these differences were not statistically significant. Diagnosis of pSS was not significantly associated with SB or HRQL scores on univariate or multivariate analysis., Conclusions: Patients with SLE have significantly worse OAB-SB and poorer HRQL compared to controls. A similar trend was seen for pSS patients, especially for SB. These findings suggest that clinically subtle OAB symptoms may be present in rheumatic patients for whom, later on, bladder pain syndrome may occur.

Background: Rheumatoid Arthritis (RA) is a chronic inflammatory disease with high impact on patients´ quality of life (QoL). The Rheumatoid Arthritis Quality of Life Questionnaire (RAQoL) is a self-completed questionnaire designed to assess QoL in patients with RA. A Portuguese adaptation of the RAQoL was available but required formal validation., Aim: To validate the RAQoL into the Portuguese language., Methods: Patients with diagnosis of RA were included. The Portuguese RAQoL was administered on two occasions, 14 days apart. Participants also completed the Nottingham Health Profile (NHP) and Health Assessment Questionnaire (HAQ) at Time 1. Internal consistency was assessed using Cronbach's alpha and reliability through Spearman's Correlation Coefficient. Construct validity was evaluated through Spearman's correlation analyses between RAQoL, NHP and HAQ. Known-group validity was tested comparing the RAQoL across different groups, considering self-perceived general health status, flare symptoms and RA severity through non-parametric tests., Results: 178 RA patients (mean age 56.6, 82% female, mean disease duration 13.6 years) were included. The mean score of RAQoL was 11, with low rates of missing data (3.9%), floor (4.5%) and ceiling (2.2%) effects. Cronbach's α was 0.95 and test-retest reliability 0.92. RAQoL scores correlated moderately with scores on the NHP Physical Mobility (r=0.77), Emotional reactions (r=0.69), Pain (r=0.68) and Energy (r=0.65) section scores. RAQoL showed to be discriminative for groups according to self-perceived general health status, flare of arthritis and disease severity., Conclusion: The Portuguese version of the RAQoL is a valid, feasible and reliable questionnaire, suitable for use in clinical practice and research purposes.

Objectives: Our main objective was to evaluate the percentage of patients under anti-osteoporotic treatment (OT) at the time of hip fracture (HF) and one and four years after the HF event. We compared these results with the percentage of patients who should be under treatment at all three stages, according to the recently published Portuguese cost-effectiveness recommendations (PCER) for OT. Data regarding occurrence of new fragility fractures and mortality were also determined, one and four years after the HF event. Our secondary objective was to evaluate characteristics of patients associated with OT at the time of hip fracture.., Material and Methods: Patients hospitalized due to HF between May 1st and October 31st of 2013 in a single tertiary hospital, were selected for this study. Data regarding demographic, clinical features (including the clinical risk factors for fracture considered by FRAX®), level of independence in daily activities (Katz index), comorbidity (Charlson index) and OT were recorded at the time of the HF. The subsequent risk of fracture was estimated for each patient with FRAX® (without mineral bone density). Mortality and the percentage of patients receiving an OT prescription and suffering a new osteoporotic fracture, at one and four years after the HF event, were established., Results: One hundred and thirty patients were included, with a mean age of 81.6±8.6 years. At the time of the HF only 28(21.5%) of the patients were receiving some form of OT. According to PCER, 115(88.5%) of these patients should be undergoing treatment according to FRAX® estimated risk, 30(23.1%) based on previous fractures and 119(91.5%) based on either criteria. The score of comorbidities was negatively associated with the prescription of OT at baseline (OR=0.17 [0.05-0.53], p=0.011) while the level of independence in daily activities was associated with higher probability of being treated (OR=3.20 [1.30-7.89], p=0.003). At one year after the HF, 39/130(30%) of patients had died. Although, according to PCER, all the remaining patients should be under OT based on the history of HF, only 11/91(12.1%) had received an OT prescription and 5/91(5.5%) suffered a new osteoporotic fracture during this period. At four years after the HF, 65/130 (50%) of patients had died. Only 6 of the remaining 65 (9.2%) were receiving an OT prescription and 9/65(13.8%) had suffered an additional fractured., Conclusions: Similar to other countries, the percentage of patients receiving OT at the time and especially after a HF is extremely low. Risk estimations with FRAX® and application of current PCER should allow clinicians to introduce appropriate primary and secondary preventive measures. Comorbidities and dependence seem to be important reasons for this undertreatment.

Psoriatic arthritis (PsA) has a strong negative impact on the quality of life of patients. The Psoriatic Arthritis Quality of Life (PsAQoL) questionnaire is a disease-specific instrument developed to measure the quality of life in patients with PsA. The aims of this study were to culturally adapt the questionnaire for Portugal and evaluate its reliability and validity in patients with PsA. The original UK English version of the PsAQoL was translated into Portuguese by a bilingual and lay panel. Structured cognitive debriefing interviews were conducted with ten PsA patients. The Portuguese PsAQoL was subsequently applied to PsA patients followed at the Rheumatology Department of Centro Hospitalar do Baixo Vouga, E.P.E. To assess reproducibility, 30 patients with PsA completed the Portuguese PsAQoL on two occasions, 2 weeks apart. A larger sample was recruited to determine internal consistency and construct validity. The Nottingham Health Profile (NHP) was used as a comparator instrument. Translation and adaptation were successful. Cronbach´s alpha for the Portuguese version of the PsAQoL was 0.91 and the test-retest reliability was 0.93. The PsAQoL could distinguish between groups of patients defined by self-reported general health status, self-reported severity of PsA and flare of arthritis. There was a positive correlation between the total score of the PsAQoL and each of the sections of the NHP. The Portuguese version of the PsAQoL was found to be relevant, understandable and easy to complete, reliable and valid.

Objectives: To evaluate if the timing of appearance with respect to disease onset may influence the arthritis presentation pattern in antisynthetase syndrome (ASSD)., Methods: The patients were selected from a retrospective large international cohort of ASSD patients regularly followed-up in centres referring to AENEAS collaborative group. Patients were eligible if they had an antisynthetase antibody testing positive in at least two determinations along with arthritis occurring either at ASSD onset (Group 1) or during the course of the disease (Group 2)., Results: 445 (70%; 334 females, 110 males, 1 transsexual) out of the 636 ASSD we collected had arthritis, in the majority of cases (367, 83%) from disease onset (Group 1). Patients belonging to Group 1 with respect to Group 2 had an arthritis more commonly polyarticular and symmetrical (p=0.015), IgM-Rheumatoid factor positive (p=0.035), erosions at hands and feet plain x-rays (p=0.036) and more commonly satisfying the 1987 revised classification criteria for rheumatoid arthritis (RA) (p=0.004). Features such as Raynaud's phenomenon, mechanic's hands and fever (e.g. accompanying findings) were more frequently reported in Group 2 (p=0.005)., Conclusions: In ASSD, the timing of appearance with respect to disease onset influences arthritis characteristics. In particular, RA features are more common when arthritis occurs from ASSD onset, suggesting an overlap between RA and ASSD in these patients. When arthritis appears during the follow-up, it is very close to a connective tissue disease-related arthritis. Also, the different prevalence of accompanying features between these two groups is in line with this possibility.

Objectives: Early diagnosis and treatment of Rheumatoid Arthritis (RA) and axial Spondylarthritis (axial SpA) can limit the impact of disease outcomes. This study evaluated the effectiveness of a referral program on the identification of patients with RA and axial SpA., Methods: This was an observational, prospective, randomized (by clusters) study conducted in Portugal to evaluate the impact of the implementation of a set of referral support actions (RSA). The study was divided in two sub-studies, the RA sub-study and the axial SpA sub-study. 28 participating primary care units were randomly (by clusters) assigned to RSA or control group (with no intervention). Both RSA and control groups identified and referred patients with suspected RA or axial SpA to the rheumatology unit of the reference hospital. The primary objective was to evaluate the correct diagnosis of RA or axial SpA cases confirmed by the rheumatologist of the reference hospital., Results: RA-Substudy: A total of 340 patients were recruited (144 in the RSA-exposed group; 196 in the control). RA diagnosis confirmation was 7.3% (95%CI, 2.1-12.5%) in RSA group versus 2.7% (95%CI, 0.0-5.7%) in control group RSA effect was positive but moderate (4.6%) and not statistically significant (95% CI, 0.0%-11.8%; p=0.222, adjusted for clustering effect). Rate of confirmed arthritis of any type was 16.9% (n=14/83) in the RSA group and 6.0% (n=5/83) in the control group. This difference was statistically significant and favorable to RSA group (OR=3.2; 95% CI 1.1-9.2; p=0.028). Axial SpA-Substudy: A total of 231 patients were recruited (108 in the RSA-exposed group; 123 in the control). Axial SpA diagnosis confirmation was 8.7% (95% CI, 2.1-15.4%) in RSA group versus 5.6% (95% CI, 0.0-11.73%) in control group. RSA effect was positive (3.1%) but not statistically significant (95% CI, -7.5- 12.9%; p=0.568, adjusted for clustering effect)., Conclusions: This study showed a positive tendency for the RSA program, most relevantly on the diagnosis of patients with any type of arthritis in the RA sub-study. It is possible that a referral program more comprehensive than the one herein tested might improve early diagnosis of RA and SpA.

Erythema elevatum diutinum is a rare neutrophilic dermatoses with vasculitis, which presents as persistent, symmetrical, purple or brownish papules and nodules, mainly in the extensor surface of the limbs. We describe a case of erythema elevatum diutinum and polyarthritis as initial manifestations of Crohn's disease associated spondyloarthritis. A 51-year-old man, from São Tomé e Príncipe, with previous history of treated tuberculosis and chronic hepatitis B infection, was admitted due to 4 months history of polyarthritis, hyperpigmented papules on the extensor surfaces, occasional episodes of bloody mucous diarrhea and significant weight loss. Histology of the skin showed neutrophilic granulocytes with marked fibrosis and moderate karyorrhexis, consistent with erythema elevatum diutinum. Colonoscopy showed erosions in sigmoid and rectum. Diagnosis of erythema elevatum diutinum secondary to Crohn's disease with associated peripheral spondyloarthritis was assumed. The patient was treated with prednisolone, sulphasalazine, metronidazole, azathioprine and tenofovir with good clinical response. As erythema elevatum diutinum can be secondary to multiple systemic diseases, including rheumatic diseases and inflammatory bowel disease, being aware and recognizing this entity can be of great importance for rheumatologists.

The adult onset Still's Disease is an uncommon entity characterized by multiple clinical manifestations. Pneumonitis, less often considered, deserves particular emphasis given the need for differential diagnosis and because it can progress to severe respiratory failure. With the aim to highlight the pulmonary parenchyma involvement in patients with adult onset Still's Disease, we present a case report which progresses with pneumonitis.

Systemic lupus erythematosus (SLE) may involve the nervous system but there are no specific biomarkers of neuroSLE. Limbic encephalitis has been rarely associated with SLE. We present a case of a 22-year-old black woman where typical SLE psychosis evolved to an encephalopathy with atypical features, normal MRI, electroencephalogram slowing and frontal and occipito-temporal hypometabolism on fluorodeoxyglucose positron emission tomography (FDG PET).Memory deficits, bizarre behaviour, psychosis, neuromyotonia and movement disorders have been described in autoimmune central nervous system disorders and associated with specific antibodies. Brain MRI may be normal and cortical brain hypometabolism on FDG PET scans has been reported. We have not found any report of limbic encephalitis or other SLE neurological manifestation associated to positive titres of anti-CASPR2 antibodies and this may warrant systematic investigation. In the rare cases of limbic encephalitis associated with SLE no specific antibodies were documented. Anti-CASPR2 antibodies have been associated not only with limbic encephalitis but also with neuromyotonia and Morvan syndrome. Although our patient had a specific pattern of tone abnormalities with an impressive cervical and upper limb hypertonicity and flaccid lower limbs, no myotonic discharges were found. We did not find any association between myoclonus and anti-CASPR2 antibodies. We cannot exclude that a non determined autoantibody could have played a role; however, clinical and FDG PET improvement supports an antibody-mediated injury, in this case of neuroSLE., (© The Author(s) 2016.)

Background: Pulmonary arterial hypertension (PAH) complicates the course of systemic sclerosis (SSc) and is associated with poor prognosis. The elevation of systolic pulmonary arterial pressure (sPAP) during exercise in patients with SSc with normal resting haemodynamics may anticipate the development of PAH. Exercise echocardiography (ExEcho) has been proposed as a useful technique to identify exercise-induced increases in sPAP, but it is unclear how to clinically interpret these findings. In this systematic review, we summarize the available evidence on the role of exercise echocardiography to estimate exercise-induced elevations in pulmonary and left heart filling pressures in patients with systemic sclerosis., Methods: We conducted a systematic review of the literature using MEDLINE, Cochrane Library and Web of Knowledge, using the vocabulary terms: ('systemic sclerosis' OR 'scleroderma') AND ('exercise echocardiography') AND ('pulmonary hypertension'). Studies including patients with SSc without a prior diagnosis of PAH, and subjected to exercise echocardiography were included. All searches were limited to English and were augmented by review of bibliographic references from the included studies. The quality of evidence was assessed by the Effective Public Health Practice Project system., Results: We identified 15 studies enrolling 1242 patients, who were mostly middle-aged and female. Several exercise methods were used (cycloergometer, treadmill and Master's two step), with different protocols and positions (supine, semi-supine, upright); definition of a positive test also varied widely. Resting estimated sPAP levels varied from 18 to 35 mm Hg, all in the normal range. The weighted means for estimated sPAP were 22.2 ± 2.9 mmHg at rest and 43.0 ± 4.3 mmHg on exercise; more than half of the studies reported mean exercise sPAP ≥40 mmHg. The assessment of left ventricular diastolic function on peak exercise was reported in a minority of studies; however, when assessed, surrogate variables of left ventricular (LV) diastolic dysfunction were associated with higher sPAP on exercise., Conclusions: We found very high heterogeneity in the methods, the protocols and the estimated sPAP response to exercise. LV diastolic dysfunction was common and was associated with greater elevation of sPAP on exercise.

Background: Fibromyalgia (FM) remains a relatively misunderstood and clinically challenging condition that impact significantly in the individual´s life, impairing global functioning and diminishing quality of life. Management is complex and frequently unsatisfactory, requiring personal tailoring and adaptation of interventions according to the fluctuations of the disease manifestations and their response to therapy. The use of comprehensive and quantified assessment tools constitutes, therefore, an essential component of the management of patients with FM. The Revised Fibromyalgia Impact Questionnaire (FIQR) is currently one of the most used and well validated instruments to assess functional (in)capacity and global impact of FM and associated symptoms., Objectives: To translate to Portuguese the FIQR and to study its psychometric properties., Material and Methods: The total sample comprised 103 women with fibromyalgia, defined according to the established criteria for FM. A self-report battery composed by the Revised Fibromyalgia Impact Questionnaire (FIQR), the Portuguese version of Beck Depression Inventory-II (BDI-II) and the Profile of Mood States (PoMS) was administered. The FIQR was re-administered to twenty-four participants, six weeks after the first evaluation. Internal reliability was assessed through Cronbach's alpha, corrected item-total score correlations and alpha if item deleted. Spearman and Pearson correlations along with repeated measures tests were computed to assess the temporal stability of the scale. Convergent and divergent validity were assessed via Spearman and Pearson correlations., Results: The FIQR demonstrated a good to very good internal consistency (from α = 0.87 to α = 0.94). All items correlated to a good degree (above 0.30) to the total score and contributed significantly to the overall reliability. Moreover, FIQR presented a good temporal stability (from r = .617 to r = .886, p ≤ .001) and favorable convergent and discriminant validity with depressive symptoms (r > .289, p ≤ .01) and positive (r > -.186, p > .05) and negative affect (r > .206, p ≤ .05)., Conclusions: The Portuguese version of the FIQR demonstrated good psychometric properties, which renders it a proper and valuable tool to be used in different settings.

Giant Cell Arteritis (GCA) is a large vessels vasculitis that is typically characterised by headache, scalp tenderness, jaw claudication and visual disturbances. Temporal arteries color Doppler ultrasonography (CDUS) is a sensitive and non-invasive image technique used in the diagnosis of this disease. This work highlights the importance of CDUS in the diagnostic workup of GCA and also demonstrates it´s usefullness in the evaluation and documentation of the response to corticosteroids therapy in an atypical case of ACG.

Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a persistent infection by an Echovirus. According to sixteen previously reported cases, this syndrome has a poor prognosis. We report the case of a 27-years old male, with XLA and DLS, successfully treated with 6 cycles of human immunoglobulin and methotrexate. Clinical symptoms improved dramatically with a complete resolution of the musculoskeletal manifestations. Despite this clinical response, prognosis should remain reserved. The evolution of this syndrome remains unpredictable and therapeutic options are limited. To the best of our knowledge, there are only a few reports of similar cases which have survived so many months after the diagnosis.

Objective: To identify the instruments used to assess polymyalgia rheumatica (PMR) in published studies., Methods: A systematic literature review of clinical trials and longitudinal observational studies related to PMR, published from 1970 to 2014, was carried out. All outcome and assessment instruments were extracted and categorized according to core areas and domains, as defined by the OMERACT (Outcome Measures in Rheumatology) Filter 2.0., Results: Thirty-five articles (3221 patients) were included: 12 randomized controlled trials (RCT); 3 nonrandomized trials; and 20 observational studies. More than 20 domains were identified, measured by 29 different instruments. The most frequently used measures were pain, morning stiffness, patient global assessment and physician global assessment, erythrocyte sedimentation rate, and C-reactive protein. The definition of outcomes varied considerably between studies., Conclusion: The outcome measures and instruments used in PMR are numerous and diversely defined. The establishment of a core set of validated and standardized outcome measurements is needed.

Background: Although the survival rate has considerably improved, many patients with systemic lupus erythematosus (SLE) develop irreversible organ damage., Objectives: The objectives of this paper are to characterize cumulative damage in SLE patients and identify variables associated with its presence and severity., Methods: A cross-sectional analysis of SLE patients from the Portuguese Lupus register Reuma.pt/SLE in whom damage assessment using the SLICC/ACR-Disability Index (SDI) was available was performed. Predictor factors for damage, defined as SDI ≥ 1, were determined by logistic regression analyses. A sub-analysis of patients with severe damage (SDI ≥ 3) was also performed., Results: In total, 976 patients were included. SDI was ≥1 in 365 patients, of whom 89 had severe damage. Musculoskeletal (24.4%), neuropsychiatric (24.1%) and ocular (17.2%) domains were the most commonly affected. Older age, longer disease duration, renal involvement, presence of antiphospholipid antibodies and current therapy with steroids were independently associated with SDI ≥ 1. The subpopulation with severe damage had, in addition, a greater interval between the first manifestation attributable to SLE and the clinical diagnosis as well as and more frequently early retirement due to SLE., Conclusions: This large lupus cohort confirmed that demographic and clinical characteristics as well as medication are independently associated with damage. Additionally, premature retirement occurs more often in patients with SDI ≥ 3. Diagnosis delay might contribute to damage accrual., (© The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.)

Glucocorticoids have potent anti-inflammatory and immunomodulatory effects and are widely use in the management of rheumatoid arthritis in combination with other synthetic and with biological disease-modifying anti-rheumatic drugs. Concerns about the risk of adverse effects of glucocorticoids, especially if they are given at higher dosages and for a longer time, hamper their use despite the clear symptomatic and disease modifying benefits. However, the evidence base for these concerns for low dose glucocorticoid therapy is quite limited due to the scarcity of quality literature on its safety in rheumatoid arthritis. This review discusses the current understanding about their disease-modifying effects, toxicity data from recent trials and observational studies, recommendations for their management and the current efforts to improve the therapeutic ratio of glucocorticoid through the development of new formulations, such as modified-release prednisone.

Objectives: To compare the effectiveness of TNF inhibitors (TNFi) and tocilizumab in rheumatoid arthritis (RA) treatment, according to different response criteria., Methods: We included RA patients registered in the Rheumatic Diseases Portuguese Register treated with TNFi or tocilizumab for at least 6 months, between January 2008 and July 2013. We assessed remission/low disease activity (LDA) at 6 months according to DAS28, CDAI, and SDAI, as well as Boolean ACR/EULAR remission and EULAR response rate, adjusting for measured confounders., Results: Tocilizumab-treated patients (n = 95) presented higher baseline disease activity and were less frequently naïve to biologics compared to TNFi users (n = 429). Multivariate logistic regression analysis including the propensity score for receiving tocilizumab showed that patients treated with tocilizumab were more likely to achieve remission or LDA according to DAS28 (OR = 11.0/6.2, 95% CI 5.6-21.6/3.2-12.0), CDAI (OR = 2.8/2.6, 95% CI 1.2-6.5/1.3-5.5), or SDAI (OR = 3.6/2.5, 95% CI 1.5-8.7/1.1-5.5), as well as a good EULAR response (OR = 6.4, 95% CI 3.4-12.0). However, both groups did not differ in Boolean remission (OR = 1.9, 95% CI 0.8-4.8) or good/moderate EULAR response (OR = 1.8, 95% CI 0.8-4.5)., Conclusions: Compared with TNFi, tocilizumab was associated with greater likelihood of achieving DAS28, CDAI, and SDAI remission/LDA and EULAR good response. Boolean remission and EULAR good/moderate response did not differ significantly between groups.

Purpose: Septic arthritis can be disabling and life-threatening, requiring prompt diagnosis and treatment. The infectious agent is not always identified in these patients. We revaluate septic arthritis cases discharged from our department, describing the affected population, causative microorganisms and antibiotic therapy used, and characterised differences between patients with and without isolated pathogenic agents., Methods: Sixty-eight septic arthritis patients were included in this study. Diagnosis was based on clinical findings, and/or the presence of joint purulent material, and/or bacterial pathogen isolation from joint fluid/synovial membrane/blood cultures and response to antibiotics. Data analysis was performed using SPSS 20., Results: Patients had a mean age of 61.1 ± 18.8 years, without sex predominance. 26.5 % had an infection ≤ 15 days before septic arthritis diagnosis. Besides previous infection, 57.4 % had ≥ 1 risk factors for septic arthritis, most commonly pharmacological immunosuppression (20.6 %), diabetes mellitus type 2 (19.1 %) and rheumatoid arthritis (17.6 %). The knee was the most often affected (54.3 %). Only 39.7 % presented fever from clinical onset until hospital admission (mean 13.4 ± 18.9 days). Leucocytosis was present in 45.6 % of patients, elevated erythrocyte sedimentation rate (ESR) in 75 % and elevated C-reactive protein (CRP) in 97.1 %. 5.9 % had articular damage attributable to septic arthritis. An infectious agent was isolated in 41.2 % of patients, with Staphylococcus aureus being the most frequent. 38.7 % of synovial fluid and 23.5 % of synovial membrane cultures were positive. Patients with an identified infectious agent have no significant differences other than more days of hospitalisation (p = 0.003) and in-hospital antibiotic treatment (p = 0.017)., Conclusion: Synovial fluid and synovial membrane cultures more often identified pathogens compared to blood or urine cultures. Patients with and without an identified infectious agent have similar demographic, clinical, laboratory and radiographic characteristics.

Objective: The objective of this study was to analyse an association between nailfold capillary abnormalities and the presence and severity of erectile dysfunction (ED) in men with SSc., Methods: A cross-sectional analysis of the prospective European League Against Rheumatism (EULAR) Scleroderma Trial and Research database was performed. Men with SSc were included if they had undergone nailfold capillaroscopy and simultaneous ED assessment with the 5-item International Index for Erectile Function (IIEF-5)., Results: Eighty-six men met the inclusion criteria. Eight men (9.3%) had not had sexual intercourse and could not be assigned an IIEF-5 score. Sixty-nine of the 78 men (88.5%) with an IIEF-5 score had nailfold capillary abnormalities, of whom 54 (78.3%) suffered from ED. Nine men (11.5%) had no nailfold capillary abnormalities, of whom six (66.7%) had ED (P = 0.44). ED was more frequent in older men (P = 0.002) and in men with diffuse disease (P = 0.06). Men with abnormal capillaroscopy had a higher median EULAR disease activity than men without (P = 0.02), a lower diffusing capacity of the lung (P = 0.001) and a higher modified Rodnan skin score (P = 0.04), but mean IIEF-5 scores did not differ [15.7 (S.D. 6.2) vs 15.7 (S.D. 6.3)]. IIEF-5 scores did not differ between men with early (n = 12), active (n = 27) or late (n = 27) patterns (IIEF-5 scores of 17.9, 16.3 and 14.7, respectively). There were no differences in the prevalence of early, active and late capillaroscopy patterns between men with or without ED., Conclusion: Neither the presence or absence of abnormal capillaroscopy findings nor the subdivision into early, active and late patterns is associated with coexistent ED in SSc.

Objectives: Pachydermoperiostosis is a rare clinical entity characterized by skin thickening of the forehead, eyelids, and hands, digital clubbing, and periostosis. Two genes have been associated, HPGD and recently SLCO2A1. We present a detailed clinical and genetic description of an African pachydermoperiostosis patient with a SLCO2A1 mutation., Methods: Standard clinical and laboratory evaluation was carried out. Genetic screening was done with PCR followed by direct sequencing. We discuss the clinical features and known mutations of previously reported cases identified through a PubMed literature review., Results: The clinical findings showed special features, including exuberant knee effusions and an extraordinary good response on surgery of the blepharoptosis. We found a splice site mutation in the SLCO2A1 gene in homozygous form: c.940+1G>A. This mutation was previously reported only in 1 Chinese and 3 Japanese cases and was considered as a founder mutation in Japan. Beside our case, only one other patient in the literature carried this mutation in homozygous condition, but with different main clinical symptoms., Conclusions: Our case demonstrates phenotypic heterogeneity of PDP even between homozygous carriers of the same mutation, suggesting further modifiers. Besides, it shows that this rare SLCO2A1 mutation is not exclusively present in East-Asia, but can occur in various ethnicities, with different origin, thus the incidence is probably underestimated., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objective: To compare Doppler ultrasound (US) and 3.0-Tesla magnetic resonance imaging (3.0-T MRI) findings of synovial inflammation in the tendons and joints in an early polyarthritis cohort (patients who presented < 1 year after arthritis onset) using a bilateral hand and wrist evaluation. Also, to evaluate the diagnostic performance of US and MRI findings for rheumatoid arthritis (RA), their ability to predict RA as a diagnostic outcome, and their capacity to improve the accuracy of the 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) RA classification criteria in early arthritis., Methods: Forty-five patients (40 women, 5 men; mean age 45.6 yrs) with untreated recent-onset polyarthritis participated in this prospective study and were examined using an US and MRI approach including both wrists and hands. After a followup of 12 months, patients were classified as having RA if they fulfilled the criteria for RA. The proportion of synovitis identified by US and MRI for each joint and tendon region was compared by chi-square test. The diagnostic performance of US and MRI for RA identification was evaluated using receiver-operating curve (ROC) analysis. Possible associations between synovitis for each joint and tendon region as identified by US or MRI and RA diagnosis at 12 months were tested by logistic regression analysis. The diagnostic performance of the ACR/EULAR RA classification criteria corrected by US and MRI joint and tendon counts was evaluated using ROC analysis., Results: Thirty patients fulfilled the ACR/EULAR criteria [early RA (ERA) patients] and the remaining 15 failed to meet these criteria (non-RA). Carpal joint synovitis and tenosynovitis of the flexor tendons was found in 86.7% and 86.7% of patients with ERA on MRI compared with 63.3% and 50% on US, respectively (p < 0.05). The global MRI and US counts revealed a good diagnostic performance for RA diagnosis of both techniques, although MRI was statistically significantly better [area under the curve (AUC) = 0.959 and AUC = 0.853, respectively; z statistic = 2.210, p < 0.05]. MRI identification of carpal joint synovitis (OR 3.64, 95% CI 1.119-11.841), tenosynovitis of the flexor tendons (OR 5.09, 95% CI 1.620-16.051), and global joint and tendon count (OR 2.77, 95% CI 1.249-6.139) were in the multivariate logistic regression model the most powerful predictors of progression toward RA. In the group of ERA patients with US joint and tendon counts ≤ 10, a statistically significant difference was found between the diagnostic performance for RA of the ACR/EULAR criteria as previously described and the diagnostic performance of the MRI-corrected ACR/EULAR criteria (AUC = 0.898 and AUC = 0.986, respectively; z statistic = 2.181, p < 0.05)., Conclusion: 3.0-T MRI identified a higher prevalence of synovitis in comparison to US in an early polyarthritis cohort. Both techniques have good diagnostic performance for RA although MRI reveals a significantly higher diagnostic capability. Synovitis of carpal joints and of flexor tendons as identified by MRI were the most powerful predictors of progression toward RA. In patients with US joint and tendon counts ≤ 10, MRI can significantly improve the diagnostic performance of the 2010 ACR/EULAR classification criteria.

Pigmented Vilonodular Synovitis is a rare clinical entity characterized as a synovial membrane benign tumour, despite possible aggressive presentation with articular destruction. The localized variant is four times less frequent and the shoulder involvement is uncommon. We present the case of a Caucasian 59 year-old patient, who presented with left shoulder pain, of uncharacteristic quality, with local swelling and marked functional limitation of 1 month duration. Shoulder ultrasonography showed subacromial bursitis. An ultrasound-guided aspiration was performed: synovial fluid was citrine-colored and translucid. One month later, the patient maintained swelling, pain and functional impairment of the left shoulder. New shoulder ultrasound revealed exuberant subacromial bursitis, which was again aspirated using ultrasound guidance. The synovial fluid was haematic, without changes in the cell count or biochemical analysis and cultural exams. We performed an injection with 60 mg of hexacetonide triamcinolone. Two months later there was a relapse, with shoulder ultrasonography once more showing subacromial bursitis with extensive synovial membrane proliferation. Shoulder MRI revealed subacromial bursitis involving the anterior, posterior and medial recesses, with deltoid distension, but without tendinous or intra-articular involvement. In the interior of the bursa hypointense images in T2 were observed, suggesting the diagnosis of Pigmented Vilonodular Synovitis. The patient had surgical bursectomy with success and without complications. The histological exam of the operatory piece confirmed the imaging diagnosis. Pigmented Vilonodular Synovitis is uncommon, rarely affecting the shoulder in a localized variant. It is a diagnosis to be considered in shoulder pain, especially if associated with recurrent subacromial bursitis.

Introduction: The objective of this study was to develop a Portuguese version of the World Health Organization fracture risk assessment tool (FRAX®)., Methods: All cases of hip fracture occurred at or after 40 years of age were extracted from the Portuguese National Hospital Discharge Register from 2006 to 2010. Age and sex-ranked population estimates and mortality rates were obtained from National Statistics. Age- and gender stratified incidences were computed and the average of the five years under consideration was taken. Rates for other major fractures were imputed from the epidemiology of Sweden, as undertaken for most national FRAX® models. All methodological aspects and results were submitted to critical appraisal by a wide panel of national experts and representatives of the different stakeholders, including patients., Results: Hip fracture incidence rates were higher in women than in men and increased with age. The lowest incidence was observed in 40-44 years group (14.1 and 4.0 per 100,000 inhabitants for men and women, respectively). The highest rate was observed among the 95-100 age-group (2,577.6 and 3,551.8/100,000 inhabitants, for men and women, respectively). The estimated ten-year probability for major osteoporotic fracture or hip fracture increased with decreasing T-score and with increasing age., Conclusions: Portugal has one of the lowest fracture incidences among European countries. The FRAX® tool has been successfully calibrated to the Portuguese population, and can now be used to estimate the ten-year risk of osteoporotic fractures in this country. All major stakeholders officially endorsed the Portuguese FRAX® model and co-authored this paper.