A case of chronic recurrent multifocal osteomyelýtýs successfully treated with etanercept

PubMe

A safe protocol for tuberculin test assessment in a country where BCG vaccination is mandatory

PubMe

MEFV mutations in systemic JIA

Background: Systemic form of juvenile idiopathic arthritis (JIA) is regarded as an autoinflammatory disease. Certain genetic polymorphisms in genes coding inflammatory proteins have been associated with the disease. On the other hand mutations of the MEFV gene cause a monogenic autoinflammatory disease, Familial Mediterranean Fever (FMF). In a previous study in adult rheumatoid arthritis 3 out of the 25 British patients who developed secondary amyloidosis had a mutation/polymorphism in the MEFV gene. Aim: To analyse whether mutaions in the MEFV gene had an association with systemic JIA. Patients and methods: MEFV mutations were screened in a total of 32 systemic JIA patients. All had been classified as systemic JIA according to the Durban JIA criteria. None had disease characteristics that met the Tel Hashomer criteria for the diagnosis of FMF. Results: 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide. Although the number of severe mutations were increased in this small group of patients with systemic JIA the difference with the Turkish population did not reach statistical significance, but the disease causing mutation (M694V) was significantly high in the patients with systemic JIA(p = 0.02). Conclusion: However, the severe disease course in the aforementioned patients suggest that MEFV mutations may be a modifying genetic factor in systemic JIA.PubMe

Musculoskeletal sonography in juvenile systemic lupus erythematosus

PubMedWo

Does unity of Familial Mediterranean fever with juvenile idiopathic arthritis affect the outcome?

PubMe

Assessment of children presenting with rheumatic complaints to a tertiary center in Turkey: differences in an Eastern Mediterranean population

PubMe

The Turkish Version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Turkish language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach\u27s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 466 JIA patients (13.7% systemic, 40.6% oligoarticular, 22.5% RF negative poly-arthritis, and 23.2% other categories) and 93 healthy children were enrolled in four centres. The JAMAR components discriminated well-healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Turkish version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research