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. METHODS: This study was performed prospectively from January 1st 2013 to December 31th 2013 in patients with upper or lower GIS bleeding. Clinically significant GIS bleeding was defined as >2g/dL hemoglobin decrease at any time during observation in PED, need for erythrocyte transfusion or need for rapid endoscopic evaluation. RESULTS: 105 patients were enrolled, 81 of which were eligible for the study. Twenty two patients (26,8%) had clinically significant GIS bleeding. These patients have significantly more commonly have upper GI bleeding and symptoms of melena, pallor and tachycardia. Initial laboratory findings revealed lower hemoglobin, RBC and albumin levels with higher WBC and BUN levels. They need significantly more nasogastric tube placement and PPI and H2 blocker treatment. Final diagnosis included more gastritis and peptic ulcers. These patients have less hematochezia, less lower gastrointestinal bleeding and less commonly diagnosed as acute gastroenteritis or Mallory Weiss tear as a final diagnosis. CONCLUSIONS: Pediatric emergency physicians should be aware of clinical and laboratory parameters of patients with clinically significant GIS bleeding to predict which patients are under risk of life threatening blood loss. Patients who have melena, pallor, tachycardia, anemia and uremia at presentation are more prone to have significant GIS bleeding.

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. The liver biopsy showed ballooning degeneration of hepatocytes which is typical for BRIC, and intrahepatic and canalicular cholestasis with bilirubinostasis. We performed whole exome sequencing (WES) and identified a novel homozygous variant (NM_001371399.1:c.1558C > T) of the USP53 gene at exon 14 as the cause of BRIC. CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.

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). Anti-human iAP antibody stained ileocolonoscopic biopsy specimens were graded for the terminal ileum and each section of the colon. Hematoxylin-eosin stained sections were used to determine inflammatory activity. Histopathological findings were compared in pre- and post-treatment biopsies of each group and with the control group (CG). RESULTS: A low grade of iAP staining was detected in IBD patients compared to the CG (p=0.02). iAP was remarkably concentrated in the terminal ileum (TI) and especially in region 1, which involved the apical surface, brush border, and epithelial cells. A significant negative correlation was found between the grade of iAP staining and inflammatory activity both in pre- and post-treatment biopsies (p=0.02, p=0.008, respectively) in the terminal ileum of CD patients. Likewise, pre-treatment biopsies of UC and CD patients and biopsies of the CG were compared with each other according to the grade of iAP staining. There were significant negative correlations for CD patients compared to UC and the CG in region1 of TI, and regions 1 and 2 (lamina propria and goblet cells) of the colon (p= 0.015, p= 0.006, p < 0.001, respectively). CONCLUSIONS: As a histological marker, iAP can be of value in monitoring the histological activity of IBD, particularly in remarkable inflammation in the small intestine.

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. The fluid resuscitation and replacement of electrolyte deficits are life-saving modalities. CASE: A 14-month-old girl was admitted with fever, lethargy, severe dehydration, edema, hypotension, and commenced sepsis therapy. However, the patient had a growth delay and loss of weight with diarrhea and delayed motor skills. On admission, laboratory evaluation showed anemia, coagulopathy, hypoalbuminemia, electrolyte disturbances, and metabolic acidosis and developed thrombocytopenia during follow-up. The celiac serological tests and upper gastrointestinal endoscopic duodenal mucosa appearance, and duodenum histopathology findings suggested celiac disease. CONCLUSIONS: This case highlights that a celiac patient may present with a severe illness like sepsis and may be associated with cytopenia and coagulopathy in the celiac crisis.