Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). In addition to these clinical phenotypes, the male sibling has spastic paraplegia, and the female sibling has epilepsy.

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.

Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard to draw clear genotype-phenotype relationships, since genetic and environmental modifiers contribute to the development of a particular disease caused by an SCN1A mutation. We aimed to initiate mutational screening of the SCN1A gene in Turkey and advance further our understanding of the relationship between the SCN1A sequence alterations and disease phenotypes such as GEFS+, DS and related epileptic encephalopathies.

High serum 25-hydroxyvitamin D levels are associated with pediatric sepsis.

Despite major advances in intensive care, sepsis continues to be a major cause of morbidity and mortality. Vitamin D is involved in various physiologic functions, including cellular responses during infection and inflammation. The aim of this study was to evaluate diagnostic value of 25-hydroxyvitamin D in childhood sepsis because it can be fatal if diagnosis delayed.

Posterior reversible encephalopathy syndrome in a child with Henoch-Schonlein purpura.

Henoch-Schönlein purpura (HSP) is a small vessel vasculitis that affects the gastrointestinal and central nervous systems and the kidneys. The disease primarily affects children, but may occur in elderly children with allergic purpura and also in adults. Central nervous system involvement may be the first sign; however, it is rarely encountered.

Comparison between daily supplementation doses of 200 versus 400 IU of vitamin D in infants.

The daily supplementation of vitamin D is mandatory for infants. However, there are still conflicting opinions about the exact daily dose. Thus, we aimed to evaluate a daily supplementation dose of 200 IU is sufficient and compared the supplementation doses of 200 and 400 IU per day.

A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.

Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations. The cause of MWS is a de novo mutation in the ZEB2 gene. This report describes a Turkish boy who was clinically diagnosed with MWS and had his diagnosis confirmed by molecular analysis of the ZEB2 gene.

A case of del(13)(q14.2)(q31.3) associated with hypothyroidism, hypertriglyceridemia, hypercholesterolemia and total ophthalmoplegia.

13q deletion syndrome is caused by the absence of a portion of the long arm of chromosome 13. This syndrome is a rare condition characterized by a wide range of clinical findings. Phenotype varies with the location and size of the deletion.

Evaluation of adipocytokines in obese children with insulin resistance.

Obesity and overweight are among the most serious health problems in western societies and an increasing problem in developing countries. Recent studies indicate an important role of adipose tissue hormones, or "adipokines", in obesity-associated complications. To investigate the relation of two circulating adipokines (visfatin, adiponectin) with markers of insulin sensitivity and obesity in children, 40 obese children and 40 control children were recruited.

New adipocytokines (vaspin, apelin, visfatin, adiponectin) levels in children treated with valproic acid.

Aim: To investigate the relationship between the newly discovered adipocytokines and increasing body weight (paralleled by increased insulin resistance), and antiepileptic drug therapy with valproic acid (VPA).

Design And Methods: 44 children with idiopathic, generalized epilepsy treated with valproic acid (VPA), and 40 control group children were included in this study.

Results: Both the VPA-treated group and the control group showed no significant difference in terms of age, total cholesterol and LDL-cholesterol.

An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.

Purpose: To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls.

Methods: Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing.

Ghrelin levels and postnatal growth in healthy infants 0-3 months of age.

Objective: The effect of ghrelin on growth of the newborn has long been argued, but not fully clarified. In this study, we aimed to investigate the relationship between ghrelin levels and growth parameters in the first 3 months of life.

Methods: The study included 60 babies (27 girls and 33 boys) born at gestational ages between 38-42 weeks.

Renal zinc clearance/glomerular filtration rate ratio as an indicator of marginal zinc deficiency associated with iron deficiency in childhood.

Objective: To evaluate the usefulness of renal zinc clearance/glomerular filtration rate ratio (R(ClZn)/GFR) as an indicator of marginal zinc deficiency that is generally associated with iron deficiency in childhood.

Methods: Zinc status was evaluated in 36 iron-deficient children (22 boys and 14 girls) who ranged in age from 1 to 10 years using serum zinc concentration and U(Zn/Cr) and R(ClZn)/GFR ratios. The results were compared with the zinc status of 36 similar-aged healthy children (24 boys and 12 girls).

Elevated plasma levels of apelin in children with type 1 diabetes mellitus.

Background: Apelin is a novel adipocytokine produced by white adipose tissue that binds the APJ receptor with high affinity. Insulin may have a role in regulation of apelin synthesis and secretion from the adipose tissue.

Objective: To investigate blood apelin concentrations in children with type 1 diabetes mellitus (T1DM) and display association of apelin with adiponectin, body mass index (BMI), lipids and insulin sensitivity.

The relationship between serum visfatin, adiponectin, and insulin sensitivity markers in neonates after birth.

Aim: The aim of this study was to assess the adiponectin and visfatin concentrations in small-for-gestational age (SGA), appropriate-for-gestational age (AGA), and large-for-gestational age (LGA) newborns and their mothers. Sixty parturients giving birth to 20 term AGA singleton infants, 20 term singleton SGA infants, and 20 term singleton LGA infants were included into the study.

Results: Mean visfatin levels were found significantly higher in the SGA (p < 0.

Treatment with human chorionic gonadotropin induces left ventricular mass in cryptorchid boys.

Aim: To examine the effects of human chorionic gonadotropin therapy on left ventricular mass index in boys with cryptorchidism. Cryptorchidism is the most frequent anomaly of male genitalia.

Patients And Method: Thirty consecutive cryptorchid boys (mean age 4.

Enteral glutamine and/or arginine supplementation have favorable effects on oxidative stress parameters in neonatal rat intestine.

Objective: To investigate and compare the effects of enteral glutamine and arginine supply on lipid peroxidation and antioxidant enzyme levels in the small intestine of healthy breast-fed rats.

Materials And Methods: The study comprised 40 newborn Sprague-Dawley rats born to 5 mother rats. Newborn rats were randomly divided into 4 groups.

Pneumococcal serotypes recovered from health children and their possible association with risk factor in istanbul, Turkey.

Unlabelled: Streptococcus pneumonia is an increasing problem worldwide and nasopharyngeal colonization plays an important role in pneumococcal infections. The aims of this study were to assess the nasopharyngeal colonization rate, investigate the risk factors for nasopharyngeal colonization with S. pneumonia, serogroup and penicillin susceptibility patterns of Streptococcus pneumoniae strains isolated from healthy children.

Vaspin and its correlation with insulin sensitivity indices in obese children.

Aim: The aim of this study was to assess the vaspin and adiponectin concentrations on markers of insulin sensitivity and obesity in pubertal obese children and adolescents.

Material And Methods: Plasma vaspin and adiponectin level and its relationships with body mass index standard deviation score (BMI-SDS), insulin sensitivity and lipids were analyzed in 33 pubertal obese children (19 girls and 14 boys) and 36 healthy control children (18 girls and 18 boys) aged 11-16 years. Insulin resistance was evaluated by homeostasis model assessment (HOMA-IR) and fasting glucose-to-insulin ratio (FGIR).