The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders.

This study aims to evaluate the efficacy and outcomes of renal replacement therapy (RRT) in pediatric patients with metabolic diseases, specifically focusing on the impact of hemodialysis (HD) and peritoneal dialysis (PD) on clinical parameters, toxin reduction, and long-term survival. This retrospective study included 10 pediatric patients (eight females and two males) treated at a pediatric nephrology department between 2020 and 2023. Patients diagnosed with metabolic disorders, including maple syrup urine disease (MSUD), methylmalonic acidemia (MMA), and glycogen storage disease (GSD), underwent RRT.

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey.

Methods: The demographic, clinical, biochemical and genotypic characteristics of the CTX patients were reviewed.

Refeeding Syndrome Developed in a Patient With Kwashiorkor Can Mimic Findings of Mitochondrial Disorder.

Kwashiorkor is a serious nutritional disease. The 7-month-old male patient presented with severe metabolic acidosis and elevated liver enzymes. His condition was similar to fatty acid oxidation defect.

As a Failure to Follow Basic Medical Rules for a Sample, Has a Costly Diagnosis of a Zoonosis.

Cat-scratch disease can be transmitted from cats and dogs in winter. It is usually self-limited and caused by . It may cause serious symptoms, including neurological findings, especially in immune-deficient patients.

Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms.

Objective: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. MTHFR C677T and A1298C polymorphisms are best-defined variants of MTHFR that were reported to be associated with epilepsy development. The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children with C677T and A1298C polymorphisms who had no history of seizure.

Sub-seasonal Levee Deformation Observed Using Satellite Radar Interferometry to Enhance Flood Protection.

Levees are critical in providing protection against catastrophic flood events, and thus require continuous monitoring. Current levee inspection methods rely on limited information obtained by visual inspection, resulting in infrequent, localized, mostly qualitative and subjective assessments. This hampers the timely detection of problematic locations and the assessment of levee safety in general.

Retrospective approach to methylenetetrahydrofolate reductase mutations in children.

Methylenetetrahydrofolate reductase reduces methyltetrahydrofolate, a cosubstrate in the remethylation of homocysteine, from methylenetetrahydrofolate. Congenital defects, hematologic tumors, and intrauterine growth retardation can occur during childhood. This study evaluated clinical and laboratory treatment approaches in children diagnosed with methylenetetrahydrofolate reductase mutations.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Background: The prevalence of phenylalanine hydroxylase (PAH)-deficient phenylketonuria (PKU) in Turkey is high (1 in 6500 births), but data concerning the genotype distribution and impact of the genotype on tetrahydrobiopterin (BH(4)) therapy are scarce.

Objective: To characterize the phenotypic and genotypic variability in the Turkish PKU population and to correlate it with physiological response to BH(4) challenge.

Methods: We genotyped 588 hyperphenylalaninemic patients and performed a BH(4) loading test (20mg/kg bw) in 462 patients.

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL) with two enzyme activities: transferase and glucosidase. A missense mutation causing isolated glucosidase deficiency has never been reported. In this study, we examined 23 patients of Turkish ancestry and identified a novel missense mutation p.