Clinical Presentation and Outcomes of Diagnostic Endoscopy in Newly Presenting Children With Gastrointestinal Symptoms.

OBJECTIVES: Paediatric endoscopy is an important diagnostic tool; however, there is little published data to guide clinicians in selecting patients for endoscopy. This study aimed to evaluate a single centre's experience of newly presenting children focusing on presenting symptoms, investigations, and diagnostic yield. METHODS: Clinical factors and endoscopic plus histological findings over a 6-month period were assessed. Only first diagnostic endoscopies were included. All biopsies were reviewed in a weekly histopathology multidisciplinary team meeting with a final agreed outcome. Abnormal histology was used as the criterion standard for reporting abnormality. RESULTS: A total of 218 endoscopies were reviewed in 164 children. Approximately 65% were histologically normal (49% of children had macroscopically and histologically normal findings). Macroscopic and histological abnormalities (respectively) were 44% and 28% of oesophagogastroduodenoscopy (OGD) patients, 25% and 25% of colonoscopy alone, and 53% and 53% of those undergoing both OGD and colonoscopy (OGD&Col). For OGD-only patients, excluding those with raised anti-tissue transglutaminase antibodies, vomiting led to the highest rate of abnormal histology (22%). For colonoscopy-only and OGD&Col patients, per rectum bleeding led to the highest rates of abnormal histology (14% and 29%, respectively), after excluding those with laboratory abnormalities (anaemia and raised erythrocyte sedimentation rate) suggestive of inflammatory bowel disease. CONCLUSIONS: This study showed that half of all first diagnostic endoscopies in our unit had neither macroscopic nor histological abnormalities. There was discrepancy between macroscopic abnormalities and histological findings in OGD. Prospective studies are needed to develop guidelines in appropriately predicting abnormality and selecting patients for endoscopy.

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins initiates the intracellular transport of proteins in COPII (coat protein)-coated vesicles. Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell.

Staphylococcal enterotoxins G and I, a cause of severe but reversible neonatal enteropathy.

BACKGROUND & AIMS: Staphylococcus aureus is recognized to produce toxins A-E and toxic shock syndrome toxin-1 associated with food poisoning and toxic shock syndrome. Enterotoxins G and I co-exist in the same S aureus strains (staphylococcal enterotoxin G and staphylococcal enterotoxin I) and are implicated in scarlet fever and toxic shock. We report these enterotoxins as causative agents of 2 cases of neonatal intractable diarrhea with enteropathy. METHODS: We used a note review for this study. Stool culture, multiplex polymerase chain reaction for enterotoxin, duodenal biopsy specimens for H&E, periodic acid-Schiff staining, and electron microscopy were used. RESULTS: Infant 1 had diarrhea from age 2 weeks and was referred at age 5 weeks with weight less than the 0.4th percentile. Infant 2 was referred at age 7 weeks with 4 weeks' of diarrhea, weight less than the 0.4th percentile. Both infants were severely malnourished. Elemental feeds were not tolerated and total parenteral nutrition was required. S aureus producing staphylococcal enterotoxin G and staphylococcal enterotoxin I was isolated in stools from both infants. Clinical improvement occurred after intravenous flucloxacillin and parenteral nutrition. Histology showed subtotal villous atrophy (H&E) with abnormal brush border (periodic acid-Schiff). Electron microscopy showed severe microvilli destruction, dilated mitochondria, and lysosomes containing cellular debris. Repeat histology was normal in infant 2, age 3 months, off parenteral nutrition, showed return to normal. Currently, both infants are 2 years of age and are thriving on a normal diet. CONCLUSIONS: Staphylococcal enterotoxin G- and I-induced enteropathy is a life-threatening condition, causing reversible disruption of enterocyte ultrastructure that responds well to supportive treatment with flucloxacillin and parenteral nutrition This condition should be a differential diagnosis of neonatal early onset diarrhea.