Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Objectives: Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 () gene, hepatic solute carrier organic anion transporter 1B1/B3 () gene, and glutathione S-transferase () gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of , and genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants.

Methods: The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls.

Clinicopathological Assessment of Kidney Biopsies in Children with Familial Mediterranean Fever: A Single-Center Experience.

Objectives: Familial Mediterranean fever (FMF) is a monogenic auto-inflammatory disease which might rarely cause glomerulopathy in patients. The aim of this study was to determine the clinical, demographic, and genetic characteristics and type of glomerular lesions in pediatric FMF patients who underwent kidney biopsy.

Methods: The data of 30 pediatric FMF patients with biopsy-proven glomerulopathy were retrospectively reviewed.

C3 glomerulopathy: experience of a pediatric nephrology center.

: C3 glomerulopathy (C3G) is an uncommon disease characterized by the deposition of complement factors in the glomeruli due to overactivation and dysregulation of the alternative pathway of complement.: This study aimed to describe the clinicopathological features, laboratory testing, clinical course, treatment, and outcomes of pediatric patients with C3G.: We reviewed retrospectively the laboratory testing, kidney biopsy reports, and clinical features of 18 patients at our hospital from 2007 to 2019.

Canakinumab treatment in children with familial Mediterranean fever: report from a single center.

Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment.

Incidence of hypoglycemia in newborns at risk and an audit of the 2011 American academy of pediatrics guideline for hypoglycemia.

Background: Hypoglycemia is low blood glucose level that may negatively affect neurological and developmental prognosis. The American Academy of Pediatrics (AAP), Committee on Fetus and Newborn defined the safe glucose concentrations in the 2011 guideline for newborns at risk for hypoglycemia. This study aimed to investigate the incidence and associated risk factors for hypoglycemia in newborn infants having risk and to assess compliance with the AAP guideline.

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients with isovaleric acidemia (IVA). Nine novels (c.

Reference values of perfusion indices in hemodynamically stable newborns during the early neonatal period.

We aimed to determine reference values of perfusion index (PI) in healthy newborns during the early neonatal period. Preductal (right hand) and postductal (foot) PI values were assessed during the first 5 days of life by using a new generation pulse oximetry. A total of 241 newborn infants (196 [81.

Acute peritoneal dialysis in the newborn period: a 7-year single-center experience at tertiary neonatal intensive care unit in Turkey.

Objective: To evaluate the underlying causes and outcomes of neonates who underwent acute peritoneal dialysis (APD).

Study Design: This report describes a 7-year experience with APD in 77 neonates.

Results: Underlying causes requiring APD were acute tubular necrosis (ATN; n = 53), inborn error of metabolism (n = 18), bilateral renal vein thrombosis (n = 3), obstructive uropathy (n = 2; posterior urethral valve and neurogenic bladder), and bilateral renal artery thrombosis (n = 1).