Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms. Neurological findings included headache in 16 patients (72.7%), epilepsy in 6 patients (27.3%), pseudotumor cerebri in 2 patients (9.1%), tremor in 2 patients (9.1%), and multiple sclerosis in 1 patient (4.5%). The most common gene mutation was homozygous M694V (40.9%). Patients with FMF can present with various CNS manifestations. Further studies that include large populations are needed to elucidate the neurological manifestations of FMF.

Our results suggest that endothelial damage is present especially in the active period of the disease in children with FMF. The endothelial dysfunction becomes an overt parallel with inflammation.

Thalassemic osteopathy (TOSP) has emerged as a topic of interest, as the optimized transfusion regimens and iron chelations has markedly improved the survival of the patients suffering from thalassemia major (TM) and increased the life expectancy. The aim of this prospective monocentric pilot study was to investigate the effects of a dietary supplement with vitamin K2 (50 mcg menaquinone-7) and vitamin D (5 mcg calcitriol) on the patients with TOSP. Twenty children (12 girls, 8 boys; age varied from 3 to 18 y) with β TM, who underwent regular blood transfusion and iron chelation therapy, were enrolled in this study and investigated at the initial, sixth, and 12th month of the treatment. We detected a significant improvement in the bone mineral density and Z-score at the lumbar spine area of the patients at the sixth and 12th month of the treatment, especially in the prepubertal group. We also found a decrease in the ratio of undercarboxylated osteocalcin to carboxylated osteocalcin, however, this was not found to be significant. Although the natural course of TOSP is worsening or at least stabilizing, our pilot study demonstrated that vitamin K2 and calcitriol combination clearly has a positive effect on the bone mineral density of the children with TM during a 1-year period. Supplementation of menaquinone-7 instead of drugs is an augmented physiological intake and seems a beneficial alternative for the treatment of TOSP. Further studies on a large number of participants are necessary to highlight the effect of vitamin K2 on TOSP.

Objective: In this study, we examined the patients' characteristics, who underwent voiding cystourethrography (VCUG), in order to determine any selectivity for indication of this invasive method. Material and methods:After exclusion of indications of neurogenic bladder or antenatal hydronephrosis and control VCUGs, 159 VCUGs performed in our clinic within one year were evaluated. Patients are divided into three groups accoding to age. Clinical characteristic and findings of renal ultrasonography (US) and renal scintigraphy were examined.Results: Vesicoureteral reflux (VUR) was detected in 61 (38.3%) of 159 patients who underwent cystourethrographic examinations, in 45.8% of the patients with a history of recurrent urinary tract infection (UTI), in 22.0% of the patients with pathological urinary system US without history of recurrent UTI. High-grade reflux rate was significantly more frequent in renal units with pathological US findings. Severe scar was significantly more frequent in renal units with high-grade reflux when compared to renal units without reflux and those with low-grade reflux. Predictive values of recurrent UTI, scarring status and pathological US for VUR were separately analyzed and seen that likelihood of indicating VUR was increased when all 3 risk factors were assessed together. Conclusion:Vesicoureteral reflux is a problem in which diagnostic process and management strategy should have to be considered in individualized manner for each patient. Before prescribing invasive VCUG, imaging urinary system by US and scintigraphy and determining whether there is recurrent UTI will improve selectivity and success of VCUG.

Background: Original peritoneal equilibration test (PET) is an implementation that requires hard work for peritoneal dialysis (PD) staff. Therefore, several authors have attempted to validate short and fast PET protocols, with controversial results. The aim of this study was to evaluate the concordance between the mini-PET and original PET in children. Methods: In 26 stable continuous ambulatory PD patients, we performed an original PET with 2.27% (4 h) and a mini-PET with 3.86% glucose PD fluid (1 h) and compared ultrafiltration (UF) and small solute transports obtained with the two methods. Results: Twenty-six children, 14 males, mean age 11.4 ± 5.6 (range 2.5-19 years), were included. Meantime on PD at time of enrollment was 35.2 ± 24.5 months (range 6-84 months). Based on the 4-h creatinine D/P data, the number of the patients within each transport category was as follow: high, 5; average, 18; low, 3. Kappa test showed a significant concordance between original PET and mini-PET (k ¼ 0.610). Based on the 4-h glucose D/D 0 data, the number of the patients within each transport category was as follow: high, 5; average, 17; low, 4. Kappa test showed a moderate agreement between original PET and mini-PET (0.514, p ¼ 0.000). When Pearson correlation analysis between original PET and mini-PET was performed, there were significant positive correlations between original 2.27% PET and mini-PET (r ¼ 0.720, p ¼ 0.000, r ¼ 0.638, p ¼ 0.000, respectively). When comparing the numeric results of mini-PET and 4 h of original PET for D/C reatinine , by simple regression analysis, we found statistically significant correlation among PETs. Conclusions: In this study, we showed concordance between the mini-PET and original PET. The 3.86% mini-PET is simple and fast methods to assess free water transport. This also gives information about total UF and small solute transports and it is in good agreement with the original PET.