Cochranahmed5449

© 2019 The Mediterranean Journal of Rheumatology (MJR).Myopathies are a rare type of acquired, chronic autoimmune diseases of the skeletal muscles and affect both children and adults. The hallmark symptoms of idiopathic inflammatory myopathies (IIM) are muscle inflammation, proximal muscle weakness and disability, arthritis, cutaneous rashes, calcinosis, ulceration, malignancy and interstitial lung disease (ILD). Subforms of IIM include polymyositis, dermatomyositis, cancer-related myositis and sporadic inclusion body myositis. Autoantibodies function as biomarkers for diagnosis of IIM and can be used to delimit clinically distinguishable IIM subforms. To maximise the diagnostic information it is essential to perform comprehensive multiparametric serological testing including both screening and confirmation tests. © 2019 The Mediterranean Journal of Rheumatology (MJR).Rheumatoid arthritis (RA) is a chronic autoimmune disease associated with substantial morbidity and mortality especially in difficult to treat cases. Biologic agents were introduced 20 years ago in Greece and RA management has paralleled the European experience. Several publications from the country have captured important aspects of the disease from its epidemiology to the clinical use of biologics and management of comorbidities. In this communication we review the management of RA and its evolution over the last 20 years in Greece, discussing the major achievements and the unmet needs of the disease in an effort to put this into a perspective. We conclude that introduction of biologic therapy has substantially changed the treatment of difficult to treat rheumatoid arthritis in-spite of the multiple unmet needs. While striving for even better outcomes, we cannot lose sight of the major impact of biologic therapies on the lives of patients with rheumatoid arthritis. © 2019 The Mediterranean Journal of Rheumatology (MJR).Background The accurate measurement of sedentary time and physical activity in Rheumatoid Arthritis (RA) is critical to identify important health consequences and determinants of these behaviours in this patient group. However, objective methods have not been well-validated for measurement of sedentary time and physical activity in RA. Aims Specific objectives are to 1) validate the ActiGraph GT3X+ accelerometer and activPAL3μTM against indirect calorimetry and direct observation respectively, and define RA-specific accelerometer cut-points, for measurement of sedentary time and physical activity in RA; 2) validate the RA-specific sedentary time accelerometer cut-points against the activPAL3μTM; 3) compare sedentary time and physical activity estimates in RA, using RA-specific vs. widely-used non-RA accelerometer cut-points. Methods Objective 1 People with RA will wear an ActiGraph GT3X+, activPAL3μTM, heart rate monitor and indirect calorimeter, whilst being video-recorded undertaking 11 activities representative of sedentary behaviour, and light and moderate intensity physical activity. Objectives 2 and 3 People with RA will wear an ActiGraph GT3X+ and activPAL3μTM for 7 days to measure free-living sedentary time and physical activity. Discussion This will be the first study to define RA-specific accelerometer cut-points, and represents the first validation of the ActiGraph accelerometer and activPALTM, for measurement of sedentary time and physical activity in RA. Findings will inform future RA studies employing these devices, ensuring more valid assessment of sedentary time and physical activity in this patient group. © 2019 The Mediterranean Journal of Rheumatology (MJR).Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density. © 2019 The Mediterranean Journal of Rheumatology (MJR).Aim This study aimed to determine the genetic association between Growth Differentiation Factor 5 (GDF5) gene (rs143383 T/C) single nucleotide polymorphism (SNP) and primary knee osteoarthritis (OA) in a group of Egyptian patients. Patients and Methods The study included 47 patients with primary knee OA and 40 apparently healthy control subjects. The disease was assessed using Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score and Health Assessment Questionnaire (HAQ). Radiological assessment was done by Kellgren-Laurence (K/L) grading system. The genetic association of the SNP with primary knee OA was assessed by restriction fragment length polymorphism - polymerase chain reaction (RFLP-PCR). Results The mean total WOMAC index was significantly higher in patients with TT genotype as compared to patients with CC and CT genotypes (P less then 0.001). Similarly, the HAQ score was significantly higher among patients with TT genotype when compared to patients with CT and CC genotypes (P less then 0.001). There was a statistically significant association between different GDF5 genotypes and K/L radiological grading of knee OA among the studied patients (P=0.029). No statistically significant association was detected on comparing the frequency distribution of GDF5 alleles and genotypes frequencies of the SNP in patients and healthy controls. KU0060648 Conclusion There is a possible genetic association between GDF5 (rs143383) SNP and severity of primary knee OA, which might facilitate the detection of patients with high risk for disease progression. The present study did not detect an association between the SNP and development of primary knee OA. © 2019 The Mediterranean Journal of Rheumatology (MJR).Objective Rheumatoid arthritis (AR) is the most common systemic inflammatory disease of joints, with prevalence of 1% worldwide. Bone erosion (BE) is a central feature of rheumatoid arthritis and is associated with disease severity and poor functional outcome. Conventional Radiography (CR) and Ultrasonography (US) play an important role in the diagnosis of RA. The aim of this study was to compare the value of two methods in the detection of BE in AR patients. Methods In this cross-sectional study, 111 patients with confirmed RA have been randomly selected and were studied. A checklist which includes demographic information such as age, gender, place of residence, history of smoking, education level and history of rheumatologic disease was completed for all patients, and then radiography and high-resolution US of dominant hands and wrists of metacarpophalangeal (MCP) joint were performed. Collected data was analysed by statistical methods in SPSS version 22. Results The results of this study showed that there is no significant difference between these two methods in detection of BE.