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Background Beyond its traditional metabolic effects, vitamin D also have immunomodulatory and anti-inflammatory properties. Serum levels of vitamin D have been found to be low in several autoimmune or immune-mediated diseases. Objectives The aims of this study were to evaluate the vitamin D status in patients with juvenile idiopathic arthritis (JIA), and also to examine whether there is an association between serum levels of 25-hydroxyvitamin D (vitamin D) and disease activity in JIA. Methods The children withJIA who had an outpatient visit between March and April 2011 were evaluated retrospectively. Demographic data, disease duration, treatment modalities, physical examination findings, disease activity, sedimentation, and vitamin D levels were evaluated. Disease activitywas calculatedwithJADAS-27. Serum vitamin D levels were measured by high-performance liquid chromatography (HPLC) method. Results A total of 47 patients, 29 (61.7%) girls with a mean age of 9.3±3.9 years and median follow-up period of 28 months, were included in the study. 12 patients(25.5%) wereusing vitamin D supplement at the time of the study. The mean serum vitamin D level of all patients was 17.74 ng/ml ±11.66. Vitamin D insufficiency (serum vitamin D: 15-20 ng/ml) and deficiency (serum vitamin D level <15 ng/ml) were found in 9 (19.1%) and 25 patients (53.2%), respectively. Only 13 patients (27.7%) have adequate vitamin D levels (>20 ng/ml). There is a significant negative correlation between Vitamin D levels and disease activity (p=0.01, r=-0,37). Conclusions Vitamin D deficiency is common in children with JIA. There is a relationship between vitamin D levels and disease activity. Clinicians should be aware of vitamin D deficiency in patients with JIA. Disclosure of Interest None Declared

Familial Mediterranean fever (FMF) has been reported more frequently in patients presenting with Henoch-Schönlein purpura (HSP) than in the general population. But, there is no clear knowledge about MEFV mutations in patients with HSP. We investigated the prevalence of MEFV mutations in children with HSP and without FMF whether these mutations have any effect on the disease course or complications. A total of 76 children with HSP who had no typical symptoms of FMF were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Eleven of 76 patients (14.4 %) were heterozygous (E148Q in 5, M694V in 4, M680I in 1, E148V in 1), 5 (6.6 %) were homozygous (M694V/M694V in 4, V726A/V726A in 1), and 2 (2.6 %) were compound heterozygous (E148Q/M694V mutations in 1 and L110P/E148Q mutations in 1). Altogether, 7 patients carried 2 mutated MEFV alleles (9.2 %), which was higher than that observed in the general Turkish population (1 %). No significant differences in joint, gastrointestinal, renal involvement, or subcutaneous edema, and also acute phase reactants including leukocyte count, erythrocyte sedimentation rate, and serum C-reactive protein concentration were found between the groups. The prevalence of the two allele-MEFV mutations in patients with HSP was found higher than that of the general population. However, it seems that MEFV gene mutations may not have any effect on the clinical presentation of HSP.

This study shows that the mitochondrial A1555G mutation is among the significant causes of prelingual non-syndromic deafness in the Turkish population.

To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the children with R202Q alteration. The medical records of children with R202Q alteration were reviewed retrospectively. A total of 225 children, with 113 males, were included. Fifty-five patients were heterozygous, 30 patients were homozygous for R202Q, and 140 patients were compound heterozygous. Classical familial Mediterranean fever (FMF) phenotype was present in 113 patients: 2 heterozygous and 7 homozygous R202Q, 46 double homozygous R202Q and M694V, and 58 compound heterozygous. The main clinical characteristics of the patients were abdominal pain in 71.5 %, fever in 37.7 %, arthralgia/myalgia in 30.2 %, arthritis in 10.2 %, chest pain in 14.6 % and erysipelas-like erythema in 13.3 %. The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p = 0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0 %, p = 0.05). R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases. This alteration may be associated with a mild phenotype and shows phenotypic differences other than the common MEFV mutations.

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EBV DNA monitoring by PCR in high-risk pediatric renal transplant recipients will provide early diagnosis and treatment of EBV infections.

These findings suggest that mutations of the MEFV gene may be responsible for rheumatic diseases other than FMF, and patients with JIA especially males, ANA negatives, and ERA subgroups should be screened for MEFV gene mutations in countries where FMF is frequent.