[Paediatric gastroenterological and hepatological care in Germany: results of a nationwide survey]. / Kindergastroenterologische und hepatologische Versorgung in Deutschland: Ergebnisse einer deutschlandweiten Umfrage.

INTRODUCTION: Children and adolescents with chronic gastrointestinal, pancreatic and liver diseases need age-appropriate and qualified treatment. A representative survey is used to analyse the structural and personnel-related outpatient and inpatient care of children with chronic gastrointestinal, pancreatic and liver diseases in Germany. METHODOLOGY: 319 paediatric and adolescent medicine clinics and 50 paediatric gastroenterology practices in Germany were invited to participate in the anonymous online survey via EFS Survey. The structure of the facilities, further training authorisations, cooperations, treatment and care data and an assessment of the need for care were systematically recorded and descriptively evaluated. RESULTS: 81 clinics and 10 practices participated in the survey. Almost two thirds of the clinics (n=52) provide outpatient paediatric gastroenterology services. Mostly up to 10 (25.4%) or 20 hours/week (33.8%). A quarter of the clinics do not offer consultation hours. Outpatient care needs cannot be met by two-thirds of the institutions. Half of all clinics stated that inpatient paediatric gastroenterology care needs can be met. However, one third cannot cover this and only rarely are there unused capacities. 35 clinics (43.2%) have a further training authorisation according to the state medical association (n=33) and/or are a further training centre of the Society for Paediatric Gastroenterology and Nutrition (GPGE) (n=18). CONCLUSION: There is a deficit in both outpatient and inpatient care in paediatric and adolescent gastroenterology. This results, among other things, from the economic framework conditions and a lack of personnel. Well-trained specialists with specialisation in paediatric and adolescent gastroenterology are still needed to provide qualified care throughout the country. Future studies should also include the need for paediatric gastroenterological care from the perspective of other groups, such as affected patients, internal gastroenterologists and paediatricians in private practice.

Trust Your Instinct-Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome.

We report a 2.5-year-old boy who was presented with acute lower gastrointestinal bleeding. Emergency endoscopy showed two active mucosal bleeding sites that were successfully clipped. Initially, multiple intestinal angiodysplasias were considered, ruled out by a second control endoscopy. Here, multiple superficial lesions were observed that bled upon contact by the endoscope, suggestive of connective tissue disorder. However, the patient showed no clinical dysmorphias, only hypermobility of the toes but no other symptoms typical for such disorders. Gene testing for Ehlers-Danlos-syndrome (EDS) revealed a pathogenic mutation in the COL3A1 causing loss-of-function of type 3-collagen. Thus, diagnosis of EDS type IV was established. Overall, EDS is a rare cause for intestinal bleeding in children, even in children with no other clinical symptoms. This case is the earliest presentation of EDS type IV with intestinal complications.

Bowel preparation in pediatric colonoscopy: results of an open observational study.

BACKGROUND AND STUDY AIMS: The goal of this study was to analyze the bowel cleansing methods currently used for pediatric colonoscopy in terms of effectiveness, tolerance and safety. PATIENTS AND METHODS: Data from 768 colonoscopies reported by 28 centers were registered in an online database for further analysis. Binary logistic regression was used to determine how preparation methods affected the cleaning effect (Aronchick score) and the rate of adverse events (Aes) and complications. RESULTS: The most frequently reported cleansing agents were sodium picosulphate (54.2 %) and polyethylene-glycol (41.3 %) in various combinations. The cleaning effect was good to excellent in 72.6 % of patients. AEs during the preparation period occurred in 21.5 % of patients. Complications during endoscopy were reported in 12.1 % and were mostly mild. The different agents had no influence on the cleaning effect. In contrast the risk of AEs during preparation was significantly increased when polyethylene-glycol was used (odds ratio (OR) 2.112, P = 0.002) but reduced with the use of sodium picosulphate (OR 0.380, P < 0.001). In particular, the risk of needing a nasogastric tube to complete clean-out was about 10-fold higher when polyethylene-glycol was used. CONCLUSIONS: A large variety of regimens are used for bowel preparation in children. We found a good overall cleaning result independent of the agents used. Cleansing agents, on the other hand, had a significant influence on tolerance and safety.

Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis.

UNLABELLED: We report on an 8 years and 3 months old boy with severe idiopathic juvenile osteoporosis (IJO). Clinical features included multiple fractures, especially of the vertebrae, and neurological symptoms. Biological studies showed non-parathyroid hormone-mediated excessive bone resorption and massive urinary calcium loss. Although IJO is usually a self-limiting condition after puberty, the severity of our patient's manifestations required therapeutic intervention. Clodronate (dichloromethylene-bisphosphonate) was administered parenterally every 3 months for a period of 2 years. Dramatic clinical and biochemical improvement was noted within 2 weeks. All parameters of bone resorption normalised and no new fractures occurred. After 6 months of treatment, radiological improvement with healing of fractures and rebuilding of the vertebral plates was documented. Bone mineral density increased to normal within 1 year and growth velocity was accelerated. After 2 years, treatment was stopped at the age of 10 years and 3 months. One year later, back pain and increasing pain in the knee region recurred. A tibial fracture was evident and, again, bone mineral density was far below normal. Bisphosphonate medication was reinstituted leading to rapid improvement. No side-effects were observed. CONCLUSION: Parenteral clodronate therapy is effective in managing severe idiopathic juvenile osteoporosis.

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

Isolated TSH deficiency as a cause for congenital hypothyroidism is relatively uncommon. Even more rare is the identification of mutations in the TSHbeta gene, only four of which have been identified. We here report a 4-month-old girl with isolated TSH deficiency born to consanguineous parents. Sequencing of the TSHbeta-subunit gene revealed a homozygous G to A transition at position +5 of the donor splice site of intron 2. TSHbeta gene transcript could not be obtained from fibroblasts or white blood cells by illegitimate amplification. Thus, to investigate further the mechanism leading to TSH deficiency in this patient, we used an in vitro exon-trapping system. The mutation at position +5 of the donor splicing site produced a skip of exon 2. The putative product of translation from a downstream start site is expected to yield a severely truncated peptide of 25 amino acids. Surprisingly, a missense substitution affecting the 14th amino acid of the signal peptide (SigP A14T) was found in one allele of the mother and brother. SigP 14T is polymorphic with a frequency of 1.8% and has no functional consequence.