Clin Exp Rheumatol
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Case Reports
Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations.
Familial Mediterranean Fever (FMF) and TNF-Receptor Associated Periodic Syndrome (TRAPS) are two inheritable inflammatory disorders. They share some clinical manifestations but their treatments are different. We present here the case of an overlap syndrome of FMF and TRAPS in a patient carrying a mutation in both the MEFV and TNFRSF1A genes. ⋯ This case shows that mutations in MEFV and TNFRSF1A can occur together in a single patient, a condition that may modify its response to treatment. It would be interesting to evaluate the role of the R92Q mutation in TNFRSF1A in patients of Mediterranean origin with FMF unresponsive to colchicine.
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Multicenter Study Comparative Study
Validity and reliability of the Italian version of the ECOS-16 questionnaire in postmenopausal women with prevalent vertebral fractures due to osteoporosis.
To investigate the reliability and validity of the Italian version of ECOS-16 (Assessment of health related quality of life in osteoporosis) in comparison to other questionnaires in postmenopausal women with osteoporosis. ⋯ The Italian version of the ECOS-16 questionnaire was demonstrated to have good psychometric properties and could offer a useful tool in research and routine clinical practice to evaluate HRQoL in post-menopausal women with osteoporosis. A full validation of the psychometric properties will require data on its sensitivity to change.
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Randomized Controlled Trial Multicenter Study
Double-blind, multicenter trial comparing acetyl l-carnitine with placebo in the treatment of fibromyalgia patients.
Fibromyalgia (FMS) is a chronic syndrome characterized by widespread pain, troubled sleep, disturbed mood, and fatigue. Several analgesic strategies have been evaluated but the results are moderate and inconsistent. Antidepressant agents are now considered the treatment of choice in most patients. It has been recently suggested that FMS may be associated with metabolic alterations including a deficit of carnitine. In this multicenter randomized clinical trial we evaluated the efficacy of acetyl L-carnitine (LAC) in patients with overt FMS. ⋯ Although this experience deserves further studies, these results indicate that LAC may be of benefit in patients with FMS, providing improvement in pain as well as the general and mental health of these patients.
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The aim of this consensus process was to construct a preliminary version of the ICF Core Set for acute inflammatory arthritis. ⋯ The ICF Core Set for acute arthritis is a clinical framework designed to comprehensively assess patients in acute care hospitals and early post-acute rehabilitation facilities. This preliminary version of the ICF Core Set will be further tested through empiric studies in German-speaking countries and internationally.
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Case Reports
Failure to over express MHC-CLASS-1 on muscle biopsy in a case of amyopathic juvenile dermatomyositis.
The concept of amyopathic dermatomyositis or dermatomyositis sine myositis, is contentious, particularly within paediatrics. We report an 8-year-old girl presenting with dermatological dermatomyositis without muscle weakness. Muscle biopsy changes are described, in particular, the absence of MHC class 1 over expression. This supports the concept of amyopathic dermatomyositis as a subgroup of juvenile dermatomyositis (JDM) and suggests that immunohistological analysis may be a valuable in excluding a myositic element in such cases.