The utility and safety of paediatric endoscopy in a district general hospital in Southeast England.

This study was done to evaluate the appropriateness, diagnostic yield, and quality of paediatric gastrointestinal endoscopy in a large DGH with tertiary paediatric gastroenterology services. It was a retrospective cohort study of children who had at least one gastrointestinal endoscopy during 31 months (May 2018-Dec 2020) in a district general hospital in Southeast England. The participants were children (2-17 years). Two hundred ninety-three procedures were performed in total, 80% were diagnostic and 20% for surveillance. The median age was 12 years and 52.5% were males. Oesophago-gastro-duodenoscopy (OGD) corresponded to 79.5% of procedures, ileo-colonoscopy (IC) to 7.2% and the remaining had both procedures. The main diagnostic indication was persistent abdominal pain in 33.5% of cases, followed by suspected GORD (14.8%), recurrent vomiting (14.3%), dysphagia (9.1%) and blood loss per rectum (8.6%). A total of 64.7% showed abnormal macroscopic findings, and 69.2% showed histopathological signs of disease. The most common histological diagnosis was gastritis in 23% followed by coeliac disease in 13%, reflux oesophagitis in 12.2% and inflammatory bowel disease in 9.6%. Procedures were performed with utmost safety with two reported cases of complications, which were appropriately managed. The completion rate of diagnostic IC was 87%. A waiting time of 6 weeks was achieved in 50.4% of cases. CONCLUSION: Paediatric endoscopy can be safely performed in a district general hospital with the right setup and can aid in the management of gastrointestinal disease in the paediatric patient. It is important to monitor and regularly audit such practices to improve the quality of specialist services. WHAT IS KNOWN: • Paediatric endoscopy is predominantly performed in large tertiary centres and included in the diagnostic algorithm for many paediatric gastrointestinal conditions. • There are recommendations on clinical indication endorsed by ESPGHAN and key quality indicators published jointly by JAG and BSPGHAN. WHAT IS NEW: • Paediatric endoscopy can be appropriately and safely performed in district general hospital by trained professionals, decreasing the workload in larger tertiary paediatric centres. • Adoption of regular audit practices is essential to ensure and improve quality and appropriateness of this specialist service.

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.

We describe four children from two consanguineous families with distinctive hand and foot anomalies including preaxial brachydactyly, together with phalangeal duplication, symphalangism and hyperphalangism of fingers I-III. These anomalies are remarkably similar to those described in a previous case report. Additional features were noted both in this case and, to variable degrees, in the four children reported here. These included sensorineural deafness, optic atrophy, mild facial dysmorphism, orodental anomalies and developmental delay. Autosomal recessive inheritance was previously suggested as the patient had a similarly affected brother and his parents were consanguineous. These four cases provide additional evidence for a novel, autosomal recessive disorder involving limb and other associated anomalies.