Acta reumatologica portuguesa最新文献

We present the case of a 32-year-old man with a diagnosis of type-III osteogenesis imperfecta who developed a telangiectatic osteosarcoma in the proximal right tibia. An above-knee amputation was performed and after one-year follow-up, pulmonary metastatic lesions were detected on the thoracic CT scan. Palliative chemotherapy was proposed and to date the patient is still living and is under medical treatment. The association between osteogenesis imperfecta and osteosarcoma is rare. There are only ten confirmed reports of this unusual situation, but to our knowledge this is the first case reported with a telangiectatic osteosarcoma arising in this particular setting.

We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. Legg-Calvé-Perthes disease (LGP) had been diagnosed at age 7 and required surgical treatment at age 12. Parents were healthy and non consanguineous; there was family history of pectus carinatum of maternal lineage. On examination the patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodactyly of the first and fifth fingers and hard painless swelling of all of the proximal interphalangeal joints; brachydactyly of the toes. Laboratory tests were unremarkable and radiographic studies revealed distinctive abnormalities of the hands (e.g., epiphyseal coning). This diagnosis was confirmed by gene sequencing, which identified in heterozygosity a pathogenic variant c.124G>T (p.Glu42Ter) in the exon 3 of the TRPS1 gene. The diagnosis of TRPS1 may be suspected upon identification of characteristic physical features, a compatible clinical history and imaging findings.

Background: In rheumatoid arthritis (RA), global disease activity is commonly evaluated, from the patient's and the physician's perspective, through a 100mm visual analogue scale (VAS) and plays an important role in the assessment of diseases activity and treatment decisions. Our aim was to determine patient-physician discordance in the assessment of disease activity and to explore its determinants.

Methods: Cross sectional study including RA patients (ACR/EULAR 2010 classification criteria). The discrepancy between patients-physicians (∆PPhGA) was defined as PGA minus PhGA, and a difference > |20mm| was considered as "discordant". Correlation between ∆PPhGA and other variables was assessed through Pearson's correlation and comparison between groups through t-test. Variables with p < 0.05 or considered clinically relevant were included in multivariable linear regression analysis to identify determinants for ∆PPhGA. A p < 0.05 was considered statistically significant.

Results: In total, 467 patients with RA were included (81.2% female; mean age 63.9% ± 12.2 years). PGA and PhGA were discordant in 61.7% of the cases. The proportion of concordance increased (p < 0.01) when considering only patients in remission (DAS 28 3V < 2.6). In multivariable analysis (R2adjusted=0.27), VAS-pain-patient (β 0.74, 95% CI 0.62-0.88, p=0.00) and TJC (β 0.16, 95% CI 0.45-0.48, p=0.02) remained associated with a higher ∆PPhGA.

Conclusion: Our study confirmed that a significant discrepancy between patients and physicians in the assessment of global disease activity is frequent in clinical practice, and is probably due to valorization of different parameters by the two groups.

The Portuguese Rheumatology Society (SPR) embraced quality as a major goal and launched, in early 2015, a program to aim for excellence in global clinical care: Rheuma SPACE - Standard Practice Aiming Clinical Excellence. Evaluating daily reality is the first step in a quality development timeline, ultimately contributing for health gains. Herein we describe the results of the evaluation of the quality indicators defined for this project and the improvement strategies identified. The Rheuma SPACE project included three phases: 1) establishing a set of quality indicators and an excellence quality model; 2) assessment of the current care at Rheumatology departments concerning the defined quality indicators in the scope of the excellence model; and 3) elaboration of global and customized reports for each participating Rheumatology department, resulting in the identification of improvement opportunities. Ten Rheumatology departments, countrywide, including larger and smaller institutions, were asked to participate in Rheuma SPACE. This resulted in an individual report for each department along with global benchmarking practices analysis. Furthermore, a list of improvement initiatives was developed. We concluded that departments lack physicians and need exclusively dedicated nurses. Time dedicated to research and audit activities should be specifically allocated. Internal contracting is well established, and professionals are committed to targets. Processes are still suboptimal, needing standardization of triage criteria, more frequent follow-up, as well as better medical records and multidisciplinary coverage. Regarding outcomes, patients are satisfied with the provided care and professionals with the working environment. However, department facilities for the former, and career related aspects, for the latter should improve. With this innovative study conducted in Portugal we expect to have enlightened tailored opportunities for improvement, ensure patient-focused practices and be able to define the indispensable quality requirements for excellence.

The coexistence of sarcoidosis and SLE in the same patient has uncommonly been reported. Information on the epidemiology, clinical presentation, and management of this rare association is scarce. We report a 46-year-old Hispanic man who was recently diagnosed with concomitant SLE and sarcoidosis at our institution. A diagnosis of sarcoidosis was established due to the presence of dyspnea, fever, and malaise along with bilateral hilar lymphadenopathy and histological evidence of non-caseating granuloma. In addition, he fulfilled the American Rheumatism Association (ACR) criteria for SLE due to a history of photosensitivity, polyarthritis, lymphocytopenia, and positivity of ANA and anti-dsDNA antibodies. He was successfully treated with a combination of oral glucocorticoids, hydroxychloroquine, and methotrexate. In a further step, we conducted an extensive literature review to further investigate into the association of sarcoidosis and SLE. We identified 25 additional published cases. The concurrence of these two conditions may be more common than previously reported, mainly affecting young female adults in the fourth decade of life. The most common manifestation of sarcoidosis was mild pulmonary symptoms whereas SLE presentation was highly variable. Most patients were positive for anti-dsDNA antibodies. Different therapeutic strategies included oral glucocorticoids, hydroxychloroquine, conventional immunosuppressive drugs and, cyclophosphamide in severe cases. Our study reinforces the need of considering the potential concurrence of sarcoidosis and SLE. Clinicians should be aware of the potential presence of SLE in patients with a diagnosis of sarcoidosis presenting with cutaneous manifestations, cytopenia, renal involvement, and/or positivity for ANA and anti-dsDNA antibodies.

Objective: The human resting myofascial tone maintains the body tone in a neutral posture, the assessment of this and other muscle physical properties (MPP) is relevant, since, it is altered in many pathological states.

Patients and methods: Seventeen healthy subjects (8 males), between 18-50 years old, were assessed. The MPP of lower lumbar muscles was evaluated on right and left sides during prone resting position using two devices; myotonometry (stiffness, elasticity and tone) and ultrasound-based shear-wave elastography (SWE) (shear modulus). MTM measurements were performed at two anatomic points (ANp), selected by an experienced reader and at an adjacent ultra-sound determined point (USp). Myotonometry measurements of the erector spinae and SWE measurements of multifidus muscles at the L3-4 level were compared between genders and sides. The intra-reader reliability (IRR) for each device and correlations between techniques were analysed. MTM measurements performed at ANp and USp were compared. The intraclass correlation coefficient (ICC) was assessed for both devices. Correlations between stiffness (myotonometry) and shear modulus (SWE) at the respective muscle depths were assessed with Spearman correlation.

Results: Males had greater stiffness and tone than females, particularly on the dominant side. MPP assessed by myotonometry were not different between ANp and USp. Good/Excellent IRR was documented for measurements by MTM (ICC≥0.90) and SWE (ICC≥0.85). No correlation in myotonometry stiffness and SWE shear modulus was found. For myotonometry assessments, the addition of ultrasonography was not different from anatomic localizations. No correlation of measurements was found between devices assessing respective L3-4 level muscles.

Conclusions: Gender and side differences must be considered when assessing MPP in axial muscles. For MTM assessments, the addition of ultrasonography was not different to anatomic references. No correlation was found between devices.