Search

Patients with persistent cytopenia are frequently referred to the haematological departments , and a diagnosis of myelodysplastic syndrome is often suspected. After routine assessment including a broad range of blood tests, bone marrow biopsy, and cytogenetics, a definite diagnosis can still not be found for some patients, although they have symptomatic cytopenia. In these cases, next generation sequencing is a valuable supplement in identifying patients with early stages of myeloid cancer.

Parenteral nutrition is the main treatment of intestinal failure. In cases with irreversible intestinal failure and life-threatening complications to parenteral nutritional treatment, transplantation of the intestine may be considered. Post-transplantation survival has increased markedly during the latest years and is now > 80% after one year and > 50% after five years. Recipients of an isolated intestinal transplantation have a better survival rate than recipients of a combined liver-intestinal-transplantation.

A girl with extensive Hirschsprung's disease was operated, leaving her with a 35 cm short bowel. She received long-term parenteral nutrition through a central catheter. Progressive liver failure and intravenous access problems developed and at the age of 5.5 years she was transplanted in Birmingham with 270 cm small bowel, a reduced liver and pancreas. After the transplantation she received immunosuppressive medication, ursodeoxycholic acid and antibiotic prophylaxis. She is now well and on enteral nutrition, 32 months after the transplantation.

Introduction: The aim was to clarify the mortality rate and results of surgical treatment in children with congenital diaphragmatic hernia (CDH) born in Western Denmark., Material and Methods: A retrospective cohort study of all live-born infants with CDH born in Western Denmark between 1995 and 2005. The cohort enrolled 82 children, which was divided into two groups, before and after 1998, when the multidisciplinary treatment centre at Odense University Hospital (OUH) was established., Results: The overall mortality between 1998 and 2005 was 23%, which was significantly lower than between 1995 and 1998, when it was 67%. The frequency of vaginal delivery, treatment with high-frequency oscillatory ventilation (HFO) and inotropic medications was higher in the second period, but the difference was not statistically significant. There was no access to extracorporal membranous oxygenation (ECMO). Postoperative complications were registered in half of the children. Three children were re-operated due to recurrence of the hernia., Conclusion: The overall mortality rate in live-born children with CDH was 23% in the setting of a multidisciplinary treatment centre, which was similar to that reported by other centres. In cases with prenatally diagnosed CDH, delivery in a multidisciplinary treatment centre is recommended.

This screening study was performed to determine the prevalence of coeliac disease (CD) in children with type 1 diabetes (T1D) and to estimate the clinical effects of a gluten-free diet. In the region of Southern Denmark all patients under 16 years of age with T1D were identified and 269 (89%) were included. CD was diagnosed in 33 (12.3%). Patients with CD had a lower height SDS and weight SDS and were younger at diabetes onset. After 2 years on a gluten-free diet there were significant improvements in clinical and biochemical parameters. We recommend screening of CD in all children with T1D.

Coeliac disease is a complex inflammatory disorder of the small intestine, induced by dietary gluten in genetically susceptible individuals. Recently, the nature of gluten-derived peptides recognized by gut-derived T cells from patients has been elucidated. It has further been established that the binding of such peptides to HLA-DQ2 and DQ8 molecules is enhanced following the modification of the peptides by the ubiquitous enzyme tissue transglutaminase. This knowledge has allowed the establishment of a molecular basis for the well-known association between coeliac disease and the expression of these HLA-molecules. This article summarizes the latest progress in coeliac disease molecular biology.

Introduction: Gastrointestinal endoscopy in children is a well-established procedure. We reviewed our experience of endoscopy in infants below one year of age to evaluate indications, endoscopic findings, histology, and complications., Material and Methods: Twenty-eight infants were studied over a two-year period. Of these, 18 underwent upper endoscopy, six recto/sigmoidoscopy or colonoscopy, and four both procedures., Results: The most common indication (10/22) for upper endoscopy was vomiting and suspicion of gastrooesophageal reflux disease. In these infants, 24-hour continuous monitoring of the oesophageal pH followed the procedure. Indications for lower endoscopy were rectal bleeding (n = 6) and intractable diarrhoea (n = 4). There were no complications to anaesthesia, endoscopy, or biopsy. Overall, there were endoscopic abnormalities in 82% and histological abnormalities in 75% of the infants. The diagnostic findings included rare disorders, such as eosinophilic gastroenteritis, microvillous inclusion disease, and chylomicron retention disease. Diagnosis of these diseases requires gastrointestinal biopsy., Discussion: Gastrointestinal endoscopy is a safe procedure, which is a valuable part of the diagnostic work-up in a selected group of infants with long-lasting or severe gastrointestinal symptoms.

The aim of this prospective, randomised, double blind study was to evaluate whether inhaled nebulized corticosteroid is effective in the treatment of croup. Thirty-seven children (aged 0.4-4.9 years) admitted to hospital with moderate to severe croup were allocated to treatment with either 2 mg nebulized budesonide (20) or saline (17). Disease severity was assessed by a clinical croup score based on stridor, cough, retractions, dyspnoea and cyanosis, and the overall clinical assessment was scored on a visual log scale (0-100). Two hours after treatment there was a significant improvement in croup score in the group treated with budesonide (8 to 4.5), but not in the group treated with saline (8 to 8). Furthermore, the overall clinical assessment score decreased significantly (50 to 25) in the group treated with budesonide, whereas it remained constant in the placebo group (60 to 62). The results indicate that nebulised budesonide can be used as a safe and effective alternative treatment in children with moderate to severe croup.