A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.

Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the pons, microcephaly, dysmorphisms, and other variable clinical features. Here, we report an intronic recessive founder variant in the gene TSEN2 that results in abnormal splicing of the mRNA of this gene, in six individuals from four consanguineous families affected with microcephaly, multiple craniofacial malformations, radiological abnormalities of the central nervous system, and cognitive retardation of variable severity. Remarkably, unlike patients with previously described mutations in the components of the TSEN complex, all the individuals that we report developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life.

Alterations in gills and intestine of after exposure to acaricide yoksorrun-5EC (hexythiazox): histopathologic and morphometric evaluation.

In this study, histopathological and morphological changes in gill and intestinal tissue of zebra fish exposed to acaricide yoksorrun were aimed to determine. Yoksorrun was applied to the experimental groups as 0.01 mL/L, 0.

Conserved Amino Acid Residues that Affect Structural Stability of Candida boidinii Formate Dehydrogenase.

The NAD-dependent formate dehydrogenase (FDH; EC 1.2.1.

The association between obesity, hypertension and left ventricular mass in adolescents.

Background: Obesity and hypertension (HT) are well known cardiac risk factors. Our goal was to show that even if arterial blood pressure (BP) measurements of obese adolescents are normal during clinical examination, ambulatory blood pressure monitoring (ABPM) can be high, may include cardiac involvement and can also detect left ventricular mass indices (LVMI) value for obese adolescents to diagnose left ventricular hypertrophy (LVH).

Methods: This study included 130 children (57 obese hypertensive, 36 obese normotensive, 14 normal weight hypertensive and 23 normal weight normotensive).

Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF.

Recently, a new set of criteria was established for the diagnosis of familial Mediterranean fever (FMF) in childhood. The aim of this study is to validate the new criteria set among heterozygous patients with clinical features of FMF. The study group consisted of FMF patients, who had a mutation at a single allele, who were followed in four pediatric nephrology-rheumatology centers in Turkey.

Low cortisol levels in active juvenile idiopathic arthritis.

The aim of our study was to evaluate the neuroendocrine system in patients with juvenile idiopathic arthritis (JIA) regarding the activity of disease. Twenty-one JIA patients (mean age +/- standard deviation 10.5 +/- 4.

A new set of criteria for the diagnosis of familial Mediterranean fever in childhood.

Objectives: Several sets of criteria mainly for adults have been proposed for the diagnosis of FMF. The aim of the present study is to validate the most widely used diagnostic 'Tel Hashomer' criteria in children and to establish a new set of criteria for use in childhood.

Methods: The study group consisted of 170 recently diagnosed FMF patients who had mutations at both alleles.

Ocular findings in children with chronic renal failure.

Purpose: The purpose of this study was to describe the ocular findings in children with chronic renal failure (CRF).

Materials And Methods: Nineteen children with CRF and 19 age- and sex-matched controls were evaluated. Schirmer and tear film break-up time (TBUT) tests were performed in addition to complete ophthalmologic examination.

MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura.

Objective: To investigate the prevalence of MEFV gene mutations in Turkish patients with Henoch-Schönlein purpura (HSP) but with no symptoms of familial Mediterranean fever (FMF). In addition, we assessed the clinical and laboratory characteristics of HSP patients with and without MEFV mutations.

Methods: Eighty pediatric patients with HSP (44 boys and 36 girls) were enrolled.

The outcome for pediatric patients on peritoneal dialysis.

Background: The adverse effects of peritonitis and of the duration of dialysis on dialysis adequacy and clinical outcome were evaluated in this study.

Methods: The study comprised 24 chronic peritoneal dialysis patients who were followed up at least for 12 months. Casual blood pressure (BP) measurements, echocardiographic evaluation, peritonitis rate, hemoglobin (Hb), serum albumin, normalized protein catabolic rate (nPCR), total Kt/Vurea, weekly creatinine clearance (CCr), residual renal function (RRF), removal of fluid and dose of recombinant human erythropoietin (EPO) were evaluated.

Renal involvement in childhood vasculitis.

Background/aims: Renal involvement comprises one of the major organ involvements in childhood vasculitis and has also an important role in the long term prognosis. The aim of this retrospective study was to analyze the demographic, clinical, laboratory features, and the treatment modalities of patients with vasculitis who had renal involvement.

Methods: Patients with the diagnosis of vasculitis who had been followed in two pediatric nephrology centers between 1990 and 2005 were analyzed retrospectively.

Breast-feeding-associated hypernatremia: retrospective analysis of 169 term newborns.

Background: The aim of the present paper was to define the incidence, complications, morbidity and mortality of hypernatremic dehydration due to inadequate breast-feeding in a neonatal intensive care unit.

Methods: A retrospective study was carried out between 2002 and 2005, to identify the term breast-fed neonates with serum sodium level > or =150 mEq/L at the Ministry of Health Ankara Diskapi Children's and Research Hospital.

Results: The incidence of hypernatremic dehydration secondary to inadequate breast-feeding was 4.

Global left-ventricular function by tissue Doppler imaging in pediatric dialysis patients.

Cardiovascular abnormalities are observed in most children with end-stage renal disease (ESRD). The aim of this study was evaluation of left-ventricular (LV) myocardial performance using tissue-Doppler imaging (TDI) in patients with ESRD. Twenty-five patients with ESRD and 25 healthy gender- and age-matched control subjects were assessed with conventional M-mode echocardiography, pulsed-wave Doppler (PWD), and TDI.

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

Mutations in the NPHS2 gene are a frequent cause of familial and sporadic steroid-resistant nephrotic syndrome (SRNS). Inter-ethnic differences have also been suggested to affect the incidence of these mutations. The frequency and spectrum of podocin mutations in the Turkish population have remained largely unknown.

Hypertension and left ventricular hypertrophy in pediatric peritoneal dialysis patients: ambulatory blood pressure monitoring and echocardiographic evaluation.

Background: Hypertension is a frequent complication of end-stage renal disease and left ventricular hypertrophy (LVH) is common in patients with poorly controlled hypertension. The aim of this study was to evaluate hypertension in pediatric peritoneal dialysis (PD) patients, to compare casual and ambulatory blood pressure (BP) measurements and to evaluate the impact of BP parameters on LVH.

Methods: The study comprised 25 PD patients (9 M, 16 F; mean age 14.

Primary nephrotic syndrome during childhood in Turkey.

Background: Minimal change nephrotic syndrome (MCNS) is the most common cause of primary nephrotic syndrome (NS) during childhood. However, recent studies from different countries have reported an increasing incidence of focal segmental glomerulosclerosis (FSGS) in children.

Methods: This is a retrospective study in which 392 Turkish children who were diagnosed with NS during the last 10 years and were followed for at least 2 years, were evaluated.

Cardiac abnormalities in children with systemic lupus erythematosus.

Children and adolescents with systemic lupus erythematosus (SLE, n = 14) with no cardiac symptoms were examined for cardiac involvement by physical examination, electrocardiography (ECG) and echocardiography. The indexes of left ventricular (LV) systolic and diastolic function were compared with the findings of 20 healthy, age-matched control subjects. Echocardiographic examination revealed mild tricuspid valve regurgitation in three, and moderate tricuspid and mitral valve regurgitation in two patients.