A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.

Background: Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels.

Case: We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with normal serum GGT levels.

Celiac crisis with thrombocytopenia and coagulopathy in a child.

Background: Celiac disease rarely presents with edema, hypoalbuminemia, acute metabolic deterioration, and electrolyte imbalances. This life-threatening condition is defined as a celiac crisis and may mimic disorders with metabolic derangement and sepsis. The crisis may present at onset or develop in celiac disease patients with poor compliance to a gluten-free diet.

Significance of intestinal alkaline phosphatase in predicting histological activity of pediatric inflammatory bowel disease.

Background: Intestinal alkaline phosphatase (iAP) is an intestinal brush border enzyme that is one of the factors involved in the pathogenesis of inflammatory bowel disease (IBD). The aim of the study was to investigate the relationship between iAP enzyme and histological inflammatory activity in patients with IBD.

Methods: A total of 44 children were enrolled in this study including IBD patients (n=24; 12 Crohn`s disease [CD] and 12 ulcerative colitis [UC]) and controls (n=20).

Autoimmune atrophic gastritis: The role of Helicobacter pylori infection in children.

Background: Autoimmune atrophic gastritis (AIG) is very rare in children. Despite a better understanding of histopathologic changes and serological markers in this disease, underlying etiopathogenic mechanisms and the effect of Helicobacter pylori (H pylori) infection are not well known. We aimed to investigate the relation between AIG and H pylori infection in children.

Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease.

Berberoğlu-Ateş B, Varan A, Demir H, Akyüz C, Yüce A. Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. Turk J Pediatr 2019; 61: 449-452.

Risk factors associated with clinically significant gastrointestinal bleeding in pediatric ED.

Introduction: Gastrointestinal bleeding is a common problem in pediatric emergency department (PED). Some of these patients can lose significant amount of blood which may lead to shock. The aim of this study is to determine the risk factors predicting clinically significant gastrointestinal (GIS) bleeding in patients presenting to PED.

A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.

Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients with Gaucher disease. Abnormal lipid laden macrophages are thought to be responsible for stimulating the secretion of chitotriosidase in Gaucher disease.