Purpose: Mutations in the Mediterranean FeVer (MEFV) gene, which causes familial Mediterranean fever (FMF), may also cause the emergence of other specific rheumatic diseases. This study aims to determine the frequency of other rheumatologic diseases in paediatric FMF patients, evaluate whether there are clinical and genetic differences between those with and without concomitant rheumatologic diseases, and compare the data with previous studies. Materials and methods: The files of FMF patients who were followed up at the paediatric rheumatology department were reviewed retrospectively. Demographic data, MEFV mutations, treatment, disease severity scores, and concomitant rheumatic diseases were recorded from the files. Results: There were 303 FMF patients (154 female/149 male). The mean age at diagnosis was 7.04±3.9 years. The mean disease duration was 5.33±3.13 years. In the cohort, 41 FMF patients (13.5%) were diagnosed with another rheumatic disease. There were 22 cases of juvenile idiopathic arthritis (53.6%), seven cases of vasculitis (17%), six cases of periodic fever aphthous stomatitis and adenitis syndrome (14.6%), three cases of Behçet disease (7.3%), two cases of acute rheumatic fever (4.8%), and one case of systemic lupus erythematosus (2.4%). 32 of these 41 FMF patients (78%) had the M694V mutation (homozygous in 11, heterozygous in 21). Disease activity scores PRAS and ISSF scores were higher in FMF with rheumatic diseases (p=0.002 and p
Aim: Joint hypermobility is a term used to describe an excessive range of joint motion. Joint hypermobility can be symptomatic or not. The present study aimed primarily to define the prevalence of joint hypermobility in healthy schoolchildren, and secondly, to determine the relationship between hypermobility and pain, physical activity, joint injury, quality of life, and balance. Material and Method: In this cross-sectional study, the joints of 737 schoolchildren, aged 8 to 15 years, were examined according to the Beighton score (BS). Generalized joint hypermobility was defined by using a cut-off point of ≥6 joints. The participants with a BS between 1 and 5 were accepted as localized hypermobile. If the Beighton score was 0, the participants were accepted as nonhypermobile. Participants were evaluated using questionnaires or tests for pain, balance, physical activity, and quality of life. Results: The 350 (47.5%) males and 387 (52.5%) females had a mean age of 11.47 ± 1.3 (8-15) years. The prevalence of generalized hypermobility was 13.4%, and we observed localized hypermobility in 65.9% of children and non-hypermobility in 20.6% of children. The most common pain localizations in children were neck (15.9%), lower back (13.7%), upper back (10.6%), shoulders (10.2%), and knees (7.9%). There was no association between pain and hypermobility in children aged 8 to 15 years. Conclusion:The generalized joint hypermobility group was younger, shorter, and thinner than other groups. Additionally, we observed that hypermobility did not make a difference in terms of pain, quality of life, physical capacity, and balance in school-age Turkish children.
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