Kenan Yilmaz

The efficacy of vitamin K2 and calcitriol combination on thalassemic osteopathy.

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 &bgr; 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.

The diagnosis of juvenile systemic lupus erythematosus with SLICC

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that can involve any organ system, and may lead to significant morbidity and even mortality. Childhood-onset SLE (cSLE) is a rare disease with an incidence of 0.3-0.9 per 100.000 children-years and a prevalence of 3.3-8.8 per 100.000 children.

Increased circulating endothelial microparticles in children with FMF

Abstract Objective: Endothelial microparticles (EMPs) are considered as markers of endothelial dysfunction. In this study, we aimed to examine whether there is endothelial dysfunction in children with familial Mediterranean fever (FMF), hypothesizing that endothelial dysfunction would be present especially with acute-phase response in the active period of the disease. Methods: This cross-sectional study included 65 FMF patients (41 attack free, 24 attack period) and 35 healthy controls. Circulating EMPs, serum amyloid A (SAA), and other inflammation markers were measured in all groups. Circulating EMPs were measured using flow cytometry. Study groups were compared for circulating EMP and inflammatory markers. The relationship between EMPs and the activation of the disease was evaluated. Results: The levels of CD144+ and CD146+ EMPs in the FMF attack period group were significantly higher than those of the control group (p < 0.05). The levels of inflammation markers in the attack period group were significantly higher than those of the control and attack-free groups (p < 0.05). In the FMF attack group, the CD144+ and CD146+ EMP were significantly correlated with CRP. Conclusions: 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.

Urinary oxalate to creatinine ratios in healthy Turkish schoolchildren

Abstract Aim: we aimed to establish reference values for urinary oxalate to creatinine ratios in healthy children aged 6–15 years and to investigate the relationship between their nutritional habits and oxalate excretion. Materials and methods: Random urine specimens from 953 healthy children aged 6–15 years were obtained and analyzed for oxalate and creatinine. Additionally, a 24-h dietary recall form was prepared and given to them. The ingredient composition of the diet was calculated. The children were divided into three groups according to age: Group I (69 years, n = 353), Group II (10–12 years, n = 335), and Group III (13–15 years, n = 265). Results: The 95th percentile of the oxalate to creatinine ratio for subjects aged 6–9, 10–12, and 13–15 years were 0.048, 0.042, and 0.042 mg/mg, respectively. The oxalate to creatinine ratio was significantly higher in Group 1 than in Group 2 and Group 3. Urinary oxalate excretion was positively correlated with increased protein intake and negatively correlated with age. A significant positive correlation was determined between urinary oxalate excretion and the proline, serine, protein, and glycine content of diet. Dietary proline intake showed a positive correlation with the urine oxalate to creatinine ratio and was found to be an independent predictor for urinary oxalate. Conclusions: These data lend support to the idea that every country should have its own normal reference values to determine the underlying metabolic risk factor for kidney stone disease since regional variation in the dietary intake of proteins and other nutrients can affect normal urinary excretion of oxalate.

Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey.

Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods 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. Results Neurological findings included headache in 16 patients (72.7%), epilepsy in 6 patients (27.3%), pseudotumor cerebri in 2 patients (9.1%), multiple sclerosis in 1 patient (4.5%), and tremor in 1 patient (4.5%). The most common MEFV gene mutation was homozygous M694V (40.9%). Conclusions Patients with FMF can present with various CNS manifestations. Further studies that include large populations are needed to elucidate the neurological manifestations of FMF.

Metaplastic Conditions in The Bladder in Patient with Epidermolysis Bullosa.

ABSTRACT Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presents with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological symptoms. On cystoscopy, suspected bullous bladder lesions were observed. Mesonephroid, intestinal and squamous metaplasia is reported here for the first time.

Could mini-PET be used to instead of 4 h original-PET to assess peritoneal permeability in children on peritoneal dialysis?

Abstract 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 = 0.610). Based on the 4-h glucose D/D0 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 = 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 = 0.720, p = 0.000, r = 0.638, p = 0.000, respectively). When comparing the numeric results of mini-PET and 4 h of original PET for D/Creatinine, 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.

Macrophage activation syndrome (MAS) in different pediatric rheumatic disease

The primary diagnoses of the patients included in the study, respectively; systemic juvenil idiopathic arthritis (n=5), Systemic Lupus Erythematosus (n=2), juvenile dermatomyositis (n=2), a neonatale onset multisystem inflammatory disease (NOMID) and a microscopic polyartritis nodosa. The mean age of the patients was 9.9 years old (1-14), and male to female ratio was 3:8. The mean duration of underlying disease was 6 months (1-24 months) at the diagnosis of MAS. We found MAS due to infection in four patients ,while used medicine in a patient. MAS were developed spontaneously in 6 patients. The clinical manifestations of MAS included fever 7 (63.6%),mucosal bleading 6 (54.5%), neurologic involvement 4 (36.4%) and hepatomegaly 6 (54.5%). We found thrombocytopenia in 9 (81.8%), leucopenia in 5 (45.5 %), increased AST in 7 (63.6%), hypofibrinogenemia in 6 (54.5%), increased ferritin in 11 (100%), decreased ESH in 4 (36.4%) and increased triglyceride in 10 (90.9%) patients. We investigated bone marrow in all patients, and hemophagocytosis were determinated in 8 (72.7%). The medications were pulse methylprednisolone 6 (54.5%), intravenous immunoglobulin 8 (72.7%), plasma exchange 5 (45.5%), cyclosporine 6 (54.5%), dexamethasone 1 (9.1%), etoposide 1 (9.1%). The prognosis of patients were recovery 8 (72.7%), and exitus 3 (27.3%). Conclusion In conclusion, MAS can be developed in various pediatric rheumatologic disease and fatal. Prompt recognition and timely treatment can result good outcomes.

Neurofibromas of the bladder in a child with neurofibromatosis type 1 causing chronic renal disease

Abstract Neurofibromatosis type 1 (NF1) is an autosomal-dominant inherited disorder and its prominent feature is the neurofibroma and renal involvement includes renal artery stenosis and renal artery aneurysms causing renovascular hypertension. The genitourinary tract may be rarely involved, leading to urinary symptoms of obstruction and hydronephrosis. Herein, we report a 12-year-old boy with chronic renal failure associated with neurofibromas of the bladder, which leads to urinary obstruction.