Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF. In this retrospective cross-sectional study conducted with patients’ files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis. The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3 %). Thirty-four of the patients (6.04 %) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5 %). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78 % and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4 %). Pericardial effusion was documented in the echocardiography of 10.9 % of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2 %), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation. The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

The objective of this study was to determine the impacts of preventable causes of fracture, such as vitamin D deficiency, disturbed calcium homeostasis and obesity on fracture occurrence in minor traumas. In this way, the effects of relevant parameters on fracture may be further elucidated. A prospective case-control study in children aged 2–18 years children with and without fractures was performed. Participants with a pediatric trauma score higher than 10 presenting to minor trauma were included to exclude the significant impact of severe trauma on fracture. The effects of obesity, parameters associated with vitamin D and Ca homeostasis on fracture occurrence were evaluated. Univariate and multivariate analyses were used to test for associations between fracture status and the assessed variables. The relationships between the variables and the odds of fracture occurrence were examined using logistic regression models. The sample consisted of 76 patients and 50 controls. There were no significant differences between the patients and controls in terms of age, sex, trauma type and pubertal period. The patients had a significantly higher mean BMI percentile (61.2 ± 30.7, 36.7 ± 30.7; P < 0.001). Likewise, patients were more likely than controls to have a lower mean 25(OH)D level and mean phosphorus level (respectively, 13.4 ± 7.0, 17.3 ± 7.8; P = 0.004, and 4.6 ± 0.7, 5.1 ± 0.8; P < 0.001). Moreover, fractures were substantially more frequent in children with vitamin D deficiency (<20 ng/mL, χ²: 7.781, df: 1, P = 0.005). In the multivariate logistic model, BMI percentile and vitamin D levels remained significantly associated with increased odds of fracture [1.02 (1.01–1.04), P < 0.001 and 0.93 (0.89–0.98), P = 0.01]. The present study supports an association of high BMI and vitamin D deficiency with an increased odds of fracture occurrence in children. The findings may help physicians to reduce the risk factors of fracture by preventive efforts. Thus, unexpected health costs and morbidity may be minimized.

Objective: To evaluate the efficiency of the sublingual route for the treatment of vitamin B12 deficiency in infants. Background: Vitamin B12 deficiency is common in children. In breastfed infants, the main reason is maternal B12 deficiency. Parenteral administration is commonly prescribed. However, patient compliance is not satisfactory due to repeated painful parenteral applications. It is also known that the oral route is efficient in high doses. In recent years, the sublingual route has been tried. This route stands out due to its easy applicability and low cost. However, there are few efficacy studies in infants for the sublingual route. Materials and methods: The study included 49 infants aged 6–12 months. All infants with marginal or deficient B12 levels (<300 pg/mL) were incidentally detected and treated with sublingual methylcobalamin. Each dose was 1000 μg and administered once a day in the first week, every other day in the second week, twice a week in the third week, and once a week in the last week. Serum vitamin B12 levels were measured before and after the treatment. Paired Sample T-Test was used to compare variables. Results: All infants had normal physical development and had no hematological or neurological issues. It was learned from the parents that the infants tolerated treatment well, and no side effects related to the treatment, such as vomiting or rash, were observed. Before and after the treatment, the mean vitamin B12 levels were 199±57 pg/mL and 684±336 pg/ml, respectively. The difference between the means was statistically significant (p<0.001). Conclusion: According to the study, it seems possible to treat vitamin B12 deficiency via a sublingual route in infants. In addition, methylcobalamin can be an alternative to the commonly used cyanocobalamin.

Background: The study investigates the nutritional status in children with acute lymphoblastic leukemia (ALL) during chemotherapy treatment because nourishment is substantial, as much as chemotherapy in children with malignant diseases. Material and Method: We enrolled 17 children with ALL (between 1 to 16 year-old, mean age 6.03 ± 4.04 y) from 5 different centers in Istanbul between September 2013 and May 2014. Anthropometric data, prealbumin, B12, and folate levels were assessed, at diagnosis, after the induction phase of chemotherapy, and before maintenance phases of chemotherapy in a longitudinal and prospective study. Results: Patients remarkably lost weight at the end of the induction phase (P=0.064) and regained this loss before maintenance chemotherapy (P=0.001). At the end of induction chemotherapy serum prealbumin level (P=0.002), weight for height ratios (P=0.016), weight for age ratios (P=0.019) significantly decreased. From the end of the induction phase to the beginning of maintenance chemotherapy, weight (P=0.001) and weight for age (P=0.017) significantly, and weight for height were remarkably elevated (P=0.076). At the end of the induction phase, serum prealbumin levels were significantly lower (P=0.048) and below laboratory reference values (P=0.009) in children younger than 60 months compared with those older. Serum folate levels increased from the end of the induction phase to the beginning of the maintenance phase (P=0.025). Serum vitamin B12 levels did not alter significantly. Conclusion: There is malnutrition risk at the end of the induction phase of the ALL-BFM chemotherapy regimen; therefore, clinicians should follow up on nutrition closely, especially in under 5-year-old patients. However, before the beginning of the maintenance phase, children start to gain weight, and obesity risk occurs. Thus, further studies are needed to evaluate nutritional status during childhood ALL chemotherapy.