Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.

Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.

Relationship between oxidative stress and chronic daily headache in children.

The aim of this study was to investigate the relationship between oxidative stress and chronic daily headache (CDH) in children. Although there are reports that oxidative injury may play a role in the pathophysiology of some neurologic disorders, such as migraine and epilepsy, by disrupting or destroying cell membranes through the formation of free radical and reactive oxygen species, the pathophysiology of headache is not clearly established. A total of 38 children (16 boys and 22 girls) with CDH, aged between 7 and 15 years, were enrolled in the study. The control group consisted of 39 healthy children (17 boys and 22 girls), aged between 7 and 14 years. The mean age was 10.9 ± 2.2 years for both the groups. Activities of erythrocyte superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx) as well as malondialdehyde (MDA) levels in all the children of both the groups were measured. Mean activities of erythrocyte SOD, CAT, and GPx as well as MDA levels were significantly higher in the study group than in the control group (p < 0.001). The findings of this study suggest that oxidative stress may play a causal or consequential role in children with CDH.

May long term oxcarbazepine treatment be lead to secondary hyperparathyroidism?

BACKGROUND AND PURPOSE: The adverse effects of newer antiepileptic drugs are not well-known. This study assessed the impact of oxcarbazepine (OXC) treatment on bone turnover. METHODS: Forty-four children with idiopathic focal (and/or secondarily generalized) epilepsy who had been treated with OXC for more than 1 year were compared with 33 healthy, age- and sex-matched children. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, osteocalcin, calcitonin, and 25-hydroxyvitamin D, and bone mineral density were measured to evaluate and compare bone mineralization between the two groups. RESULTS: The serum levels of calcium, osteocalcin, 25-hydroxyvitamin D, and bone mineral density did not differ significantly between the study and control groups. However, serum levels of parathyroid hormone, alkaline phosphatase, phosphorus, and calcitonin differed significantly between the two groups. CONCLUSIONS: These findings suggest that OXC treatment leads to secondary hyperparathyroidism with high-turnover bone disease and/or impaired intestinal calcium absorption.

Evaluation of pertussis immunity status in schoolchildren immunized with whole-cell vaccine.

It has recently been reported that the worldwide increase in the number of pertussis cases is a result of the waning of whole-cell vaccine-induced immunity. Thus, in this study, we aimed to investigate the pertussis immunity status of primary and secondary school students in a district of Ankara, Turkey. A total of 997 healthy students, aged 9-17 years, who had been immunized with four doses of whole-cell pertussis vaccine were included in the study. The subjects were divided into two age groups: 9-14 and 15-17 years. To determine the immune status, serum levels of IgG anti-pertussis toxin (aPT) antibody were tested by in-house ELISA and arbitrarily evaluated as non-immune [< 10 ELISA units (EU)/ml], immune (10-100 EU/ml), and recent infection (> 100 EU/ml). Serum samples of 997 students (559 females, 438 males) aged between 9 and 17 years (mean 13.02 +/- 2.25, median 13 years) were tested. Non-immune, immune and recent infection levels of aPT were found in 27.3%, 59.3% and 13.4% of individuals, respectively. The immune group did not have statistically significant differences between males and females (P = 0.68). In the 9-14 and 15-17 years age groups, serum aPT antibody levels 10 EU/ml were 73.1% and 72.2%, respectively, which did not represent any statistical difference (P = 0.81). Students aged 15-17 years had a higher immunity rate than the 9-14 years group, and the percentage of students with recent infection in the 9-14 years group was higher than the 15-17 years group (P < 0.001). The peak age of non-immunized subjects was 9 years (47.0%), and decreased to a minimum at age 12-13 years, and began to increase again from age 13-14 years. In contrast, the ratio of recent infection was least at age 9-10 years, began to increase, and reached a peak at 12 years, and then decreased. On the other hand, it was observed that household size and monthly income were not associated with the immunity status (P = 0.65, P = 0.37, respectively). The results of the present study show that levels of antibody against pertussis decreased in the younger age groups and, as a result, there is an increase in the number of pertussis cases. Thus, in order to decrease the incidence of pertussis and protect infants, we recommend the application of booster doses at regular intervals.

Klippel-Trenaunay syndrome with hemimegalencephaly, retroperitoneal lymphangioma and double inferior vena cava.

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterised by congenital vascular hamartomas, limb hypertrophy, lymphangiomas and atresia of lymph vessels with non-pitting oedema. A 6-year-old girl with KTS was referred to our hospital for evaluation of intractable seizures. In addition to findings consistent with KTS, we also found hemimegalencephaly, retroperitoneal lymphangioma and double inferior vena cava. All of these associations in the same patient with KTS are unique in the English literature. We report on the multidedector CT and MRI features of such an unusual case.