[Video-capsule endoscopy in children with unexplained symptoms of the small intestine]. / Videocapsule-endoscopie bij kinderen met onbegrepen aandoeningen van de dunne darm.

Video-capsule endoscopy was used in 4 children with unexplained symptoms of the small intestine. Each patient swallowed a capsule of 11 by 27 mm, which contained a camera that takes 2 images per second (in children aged less than 8 years, the capsule was placed in the duodenum under sedation). In a 3-year-old girl with rectal bleeding following partial resection of the colon and small intestine, ulcers were seen proximal to the ileorectal anastomosis. In a 14-year-old boy with Crohn's disease and an abnormal growth curve, multiple stenoses of the small intestine were seen. In an 8-year-old boy with rectal bleeding, a solitary polypoid mass was seen that, upon operation, appeared to be the result of a partially invaginated Meckel's diverticulum. In a 17-year-old boy with weight loss, rectal bleeding and colitis, abnormalities were seen that were consistent with Crohn's disease. Patients were treated based on the endoscopic results and subsequently recovered. Video-capsule endoscopy is non-invasive and painless and provides better images of the small intestine than a standard endoscopic and radiological examination.

Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.

Hereditary haemochromatosis is an autosomal recessive disorder, leading to progressive iron overload, which is very common among the Caucasian population. In the vast majority of the cases, the hereditary iron overload is caused by mutations in the HFE gene. Most prominently this is the homozygous Cys282Tyr mutation. We report two Dutch families in which both propositi were found to be heterozygous for Cys282Tyr in the work-up of hyperferritinaemia. Frequent phlebotomies had no effect on the ferritin level, but led to microcytic anaemia. Finally, the family history with bilateral cataracts was the clue for the correct diagnosis. Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterised by elevated serum ferritin levels and bilateral cataracts in the absence of iron overload. Several point mutations and deletions within the iron-responsive element (IRE) in the 5' noncoding region of the L-ferritin gene have been found in HHCS families. In the first Dutch family a G to C transition at position 32 was found and a G to A mutation at the same location was found in the second Dutch family. In individuals with an isolated hyperferritinaemia (normal transferrin saturation), the presence of early onset (familial) cataract should raise the possibility of HHCS, even when Cys282Tyr heterozygosity is found.

Modulation of cytokine release from human monocytes by drugs used in the therapy of inflammatory bowel diseases.

BACKGROUND: Cytokines produced in the gut mucosa play an important role in the pathogenesis of inflammatory bowel diseases (IBD). To determine whether drugs used in the treatment of these diseases modulate cytokine synthesis, we investigated their effects on endotoxin-induced tumour necrosis factor (TNF)-alpha, interleukin (IL)-1 beta and IL-6 release by elutriation-purified human monocytes in vitro. METHODS: Drugs tested were dexamethasone, 5-aminosalicylic acid, sulphapyridine and zileuton (a 5-lipoxygenase inhibitor). Monocytes were isolated and stimulated with endotoxin, and TNF, IL-1 and IL-6 levels were determined using an enzyme-linked immunosorbent assay. RESULTS: Monocyte stimulation with endotoxin resulted in an average TNF release of 2464 +/- 64 pg/10(6) cells, IL-1 release of 616 +/- 47 pg/10(6) cells and IL-6 release of 2259 +/- 148 pg/10(6) cells. Addition of dexamethasone resulted in a reduction of TNF, IL-1 and IL-6 release to below background levels. Sulphapyridine significantly reduced TNF and induced IL-1 release in a dose-dependent fashion, but had no significant effect on IL-6 release. 5-Aminosalicylic acid did not modulate IL-6 synthesis, but significantly reduced IL-1 and enhanced TNF synthesis. Zileuton reduced TNF and IL-6 release, but enhanced IL-1 release. CONCLUSION: We conclude that these anti-inflammatory drugs are able to modulate cytokine release by human monocytes. Further studies are needed to determine whether these effects are related to their therapeutic efficacy in IBD.