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Hypodontia is defined as the congenital missing of one or more teeth in one or both dentition periods. In this case report, ketone utilization disorder with oro-dental findings was reported which was previously not reported in the literature. It was concluded that dental examination is an important parameter which must be taken into consideration in the future case reports.

Oxidant status and antioxidants play important roles in anemias. The present study was conducted to investigate the oxidant-antioxidant status in iron deficiency anemia (IDA), and to evaluate the antioxidant effect of vitamin E in IDA treatment. Ten patients with IDA aged nine months were given only iron treatment, whereas another 10 patients were administered both iron and vitamin E. The complete blood count, plasma malonyldialdehyde (MDA) level, erythrocyte superoxide dismutase level, and the serum vitamin E level, both before and within the treatment phases were examined. The reticulocyte count at the first week of treatment was found lower in the vitamin E-treated group. The mean corpuscular volume (MCV) was found higher in the vitamin E-treated group at the end of therapy. The malonyldialdehyde levels of the group treated with vitamin E were found lower during treatment. These results suggest that iron administration in IDA treatment may stimulate lipid peroxidation, and that vitamin E supplied with iron may reduce the MDA production. The hematological indications of the findings of our study are that the reticulocyte response develops earlier and the microcytosis recovery occurs more rapidly in the vitamin E-administered group in comparison with the group treated with iron only.Serbest radikal reaksiyonları ve antioksidanlar anemi patogenezinde önemli rol oynar. Bu çalışma demir eksikliği anemisi (DEA) tedavisinde oksidan-antioksidan durumu saptamak ve DEA tedavisinde E vitamininin antioksidan etkisini değerlendirmek amacıyla yapılmıştır. Sadece demir tedavisi verilen dokuz aylık 10 hasta ve demir ile birlikte E vitamini tedavisi verilen 10 hasta çalışmaya alınmıştır. Tam kan sayımı, plazma malonildialdehid (MDA) düzeyi, eritrosit süperoksid dismutaz (ESOD) düzeyi ve serum E vitamini düzeyi tedavi öncesi ve tedavi sırasında ölçülmüştür. E vitamini ile tedavi edilen grupta retikülosit sayısı daha düşük bulunmuştur. Ortalama eritrosit hacmi E vitamini ile tedavi edilen grupta tedavinin sonunda yüksek bulunmuştur. Tedavi boyunca MDA düzeyleri E vitamini ile tedavi edilen grupta daha düşük bulunmuştur. Bu sonuçlar DEA tedavisinde verilen demirin lipid peroksidasyonunu uyarabileceğini ve demir ile birlikte verilen E vitamininin MDA üretimini azaltabileceğ ini göstermiştir. Çalışmamızdaki bulguların hematolojik göstergeleri sadece demir verilen gruba göre vitamin E verilen grupta, retikülosit yanıtının daha erken olması ve mikrositozun daha hızlı düzelmesidir.

Glycogen storage disease type I (GSD I) is an autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-a (G6Pase) catalytic unit characterizes GSD IA and defects in the glucose-6-phosphate transporter protein (G6PC) characterize GSD IB. The main clinical characteristics involve fasting hypoglycemia, hyperuricemia, hyperlactatemia, and hyperlipidemia. Hypercalcemia arose as an unknown problem in GSD I patients, especially in those with insufficient metabolic control. The aim of the present study was to obtain the prevalence of hypercalcemia and to draw attention to the metabolic complications of GSD I patients, including hypercalcemia in poor metabolic control. Hypercalcemia frequency and the affecting factors were studied cross-sectionally in 23 GSD I pediatric subjects. Clinical diagnosis of GSD I was confirmed in all patients either through documentation of deficient G6Pase enzyme activity levels on liver biopsy samples or through G6PC gene sequencing of DNA. Hypercalcemia was detected in 78.3% of patients with GSD I. Different from the previous report about hypercalcemia in a GSD IA patient who had R83H and 341delG mutations, we could not identify any genotype-phenotype correlation in our GSD I patients. Hyperlactatemia and hypertriglyceridemia correlated significantly with hypercalcemia. Furthermore, no differences in serum calcium concentrations could be demonstrated between patients with optimal metabolic control. We observed hypercalcemia in our series of GSD I patients during acute metabolic decompensation. Therefore, we speculate that hypercalcemia should be considered as one of the problems of GSD I patients during acute attacks. It may be related with prolonged lactic acidosis or may be a pseudohypercalcemia due to hyperlipidemia that can be seen in GSD I patients with poor metabolic control.

The aim of this study was to examine the intima-media thickness (IMT) of carotid arteries and endothelial function parameters such as plasma asymmetric dimethylarginine (ADMA) and homocysteine levels in hypercholesterolemic children and to investigate the relations of these parameters with hypercholesterolemia. Fifty-seven hypercholesterolemic and 37 healthy children were included in the study. Hypercholesterolemia was defined as 155 mg/dl and above for low-density lipoprotein (LDL)-cholesterol. Plasma concentrations of ADMA and homocysteine were measured and the measurement of carotid IMT was determined. Both carotid IMT and plasma ADMA levels were significantly higher in hypercholesterolemic children than healthy children (p0.01). No significant difference was determined in homocysteine concentration between hypercholesterolemic children and the control group (p0.05). No significant correlation was observed between lipid profiles and the levels of ADMA and homocysteine. However, a significant positive correlation was found between carotid IMT and total and LDL-cholesterol levels and between the levels of ADMA and LDL-cholesterol. In conclusion, the progressive increase in ADMA levels and carotid IMT and the positive relationship between carotid IMT and serum cholesterol levels support that plasma ADMA levels and carotid IMT can be indicators of early atherosclerosis in hypercholesterolemic children.

Dysphagia secondary to congenital cricopharyngeal achalasia (CCA) is a rare condition in pediatric patients. We report a case of CCA in a 10-month-old boy presented with dysphagia, choking and nasal reflux. The diagnosis was made by barium studies. The patient was successfully treated by cricopharyngeal myotomy.

Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. This paper reports a two-year-old boy who had hepatosplenomegaly, hyperlipidemia and hypertransaminasemia determined incidentally. The liver biopsy sample was orange-yellow in appearance. Microscopically, microvesicular steatosis and birefringent crystals were seen in liver biopsy. The diagnosis of CESD was confirmed by the reduced human acid lipase activity in peripheral leukocytes. Simvastatin therapy was given and tolerated without side effects. Our patient is the youngest reported case in the literature treated with 3-hydroxy 3-methyl glutaryl (HMG) CoA reductase inhibitor.

Free radical production is increased by the administration of total parenteral nutrition (TPN) and may be linked to its adverse effects. Some of the complications of TPN can be ameliorated by partial enteral feeding. In the present study, we investigated plasma nitrate/nitrite (NO(2)/NO(3)) levels in newborns under parenteral and enteral plus parenteral nutrition (PN).Six categories of patients were studied: (1) 10 term infants receiving enteral feeding, (2) 10 term infants receiving PN plus enteral feeding, (3) 10 term infants receiving TPN, (4) 10 preterm infants receiving enteral feeding, (5) 10 preterm infants receiving PN plus enteral feeding, and (6) 10 preterm infants receiving TPN. Plasma nitrate/nitrite levels were measured in all infants initially and in infants receiving TPN and PN plus enteral feeding on the 1st and 5th days, 3 h after the lipid infusion.There was a statistically significant difference in the weighs of infants between the term and preterm groups. There was no difference in NO(2)/NO(3) levels between the term and preterm groups. When the groups of term (groups 1, 2, 3) and preterm (groups 4, 5, 6) infants were compared separately within the groups, no statistically significant difference was found in any parameters. We also made comparison among the six groups' gestational ages, and we found a difference between all term groups and all preterm groups except between groups 1 and 2; groups 1 and 3; groups 2 and 3; groups 4 and 5, and groups 5 and 6 (p0.05). Furthermore, the baseline, 1st and 5th days NO(2)/NO(3) levels were compared in the term and preterm groups receiving PN. Plasma NO(2)/NO(3)levels before TPN were significantly lower in the term infants receiving parenteral fluids compared with NO(2)/NO(3) levels of 1st day of TPN (p0.05). In preterm infants receiving TPN the NO(2)/NO(3) levels before TPN were significantly lower than the levels on the 5th day of PN (p0.05). There was no significant difference among other NO(2)/NO(3) levels of the patients at baseline, 1st and 5th days in the term and preterm groups. Partial enteral feeding did not change the levels of NO(2)/NO(3) in term and preterm infants on PN.This study shows that TPN has some impact on nitric oxide (NO) production in newborn and partial enteral nutrition does not reduce this effect. However, since the numbers are very small these findings need to be verified by larger groups of patients.

Oxygen free radicals have an important role in the pathogenesis of acute and chronic liver disease. Free radical formation and oxidative damage, probably mediated with copper accumulation, are important in Wilson's disease pathogenesis. This study was performed to determine if accumulating copper in Wilson's disease is a cause of further oxidant stress compared to non-Wilsonian liver disease.In this study, we investigated plasma malondialdehyde and nitric oxide levels to estimate the oxidant stress and total antioxidant capacity and vitamin E/cholesterol, vitamin C and beta-carotene levels to estimate the antioxidant status of patients. The groups investigated included 24 patients with Wilson's disease (group I), 25 patients with non-Wilsonian chronic liver disease (group II) and 23 healthy controls (group III). Wilson's disease and non-Wilson's disease patients were divided into subgroups according to disease stage (i.e. chronic hepatitis and cirrhosis) and all parameters were compared between subgroups and controls.Malondialdehyde and nitric oxide levels were higher than controls in groups I and II (p=0.013, p=0.01), but these levels did not differ between the Wilson's disease and non-Wilson's disease groups. The parameters were also evaluated with respect to the disease stage (i.e. chronic hepatitis and cirrhosis), and there was no difference between groups I and II. Although malondialdehyde and nitric oxide levels were significantly different between both disease stage groups and the controls, we observed decreased vitamin C and beta-carotene levels only in cirrhosis stage (p=0.01, p=0.01).We observed the presence of oxidant stress unrelated to the etiology of the liver disorder in our study. Deficiency of the major antioxidants, vitamin C and beta-carotene, develops as the disease stage advances from chronic hepatitis to cirrhosis.

The bone mineral density (BMD) of the lumbar spine and femoral neck was measured by dual energy X-ray absorptiometry (DEXA) in 102 healthy Turkish children, aged 3-15, and values were correlated with age, height, weight and pubertal status. BMD increased with age in children of both sexes. The increase was steeper at the time of puberty. There were no significant differences between boys and girls until the age of 10. After the age of 10, lumbar BMD was higher in girls than in boys, probably because of the earlier onset of puberty in females. BMD was also highly correlated with height and weight. Because of low irradiation exposure, rapid scanning and high precision, DEXA is a non-invasive method, which is well adapted to children with diseases impairing bone metabolism.

Sinovenous thrombosis is a definite cause of mortality or morbidity in newborns. Perinatal hypoxia is one of the well known risk factors. Two term newborns were diagnosed to have cerebral venous thrombosis after a hypoxic-ischemic insult. They were later found to have carnitine deficiency. Both of the patients died. Carnitine was previously shown to have inhibitory effects on thrombogenesis in experimental studies. The possible contribution of carnitine in thrombogenesis was discussed.

Amaç: Oksidan ve antioksidan dengedeki bozukluklar talasemi ve orak hücreli anemi gibi hemoglobinopatilerde saptanmıştır. Çalışmada düzenli olarak transfuzyon yapılan ve şelasyon tedavisi alan 11 beta talasemi major hastasında oksidan ve antioksidan özellikler çalışılmıştır. Gereç ve yöntem: Hastaların laboratuar değerleri cinsiyet ve yaşları çalışma grubuna uygun 10 sağlıklı çocuk ile karşılaştırılmıştır. Bulgular: Koruyucu bir antioksidan olan eritrosit superoksid dismutazı (ESOD) ve lipit peroksidasyonunun yıkım ürünü olan plazma malonildialdehid (MDA) düzeyleri çalışma grubunda sağlıklı çocuklara göre yüksek bulunmuştur. Serum vitamin E düzeyleri ise sağlıklı çocuklara gore düşük bulunmuştur. Sonuç: Talasemilerin patogenezinde demir yüklenmesi sonucu oluşan artmış oksidatif yıkım önemlidir. Ayrıca vitamin E gibi yağda eriyen vitaminlerin yetersizliği sonucu olarak antioksidan durumun bozulması oksidatif yıkımda artışa neden olur.