Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.

Follow-up and transition practices in esophageal atresia: a review of European Reference Network on rare Inherited and Congenital Anomalies (ERNICA) centres and affiliates.

Purpose: The purpose of this study was to understand the provision and distribution of esophageal atresia (EA) follow-up (FU) and transition services across European Reference Network for rare Inherited and Congenital Anomalies (ERNICA) member and affiliate centers.

Methods: A REDCap questionnaire was sent to clinical leads of 18 ERNICA members and 14 affiliate centers.

Results: 29 of 32 centers responded (91%), the majority of which were highly specialized.

Over-the-scope clip for closure of persistent gastrocutaneous fistula after gastrostomy tube removal: a multicenter pediatric experience.

Background: Percutaneous endoscopic gastrostomy is commonly used for enteral nutritional access, but gastrocutaneous fistulae (GCF) may persist after tube removal, posing clinical challenges. The use of endoscopic closure devices, including over-the-scope clips (OTSC), has shown promise in managing non-healing fistulae, although data in the pediatric population are limited.

Methods: A retrospective multicenter study analyzed pediatric patients who underwent GCF closure following gastrostomy tube removal.

Navigating global collaboration: challenges faced by the international network on esophageal atresia.

The International Network on Esophageal Atresia (INoEA) stands as a beacon of collaboration in addressing the complexities of this congenital condition on a global scale. The eleven board members, from various countries (USA, Canada, France, Australia, Italy, Sweden, Germany, and The Netherlands) and backgrounds (pediatric gastroenterology, pediatric surgery, pediatric pulmonology, nursing, and parents) met in a face-to-face symposium in Lille in November 2023, to identify challenges and solutions for improving global collaboration of the network.

Nutritional and physical fitness parameters in adolescence impact cardiovascular health in adulthood.

Background & Aims: Cardiovascular diseases are the leading cause of mortality worldwide, originating in the first decades of life. A better understanding of their early determinants would allow for better prevention. This study aimed to evaluate the impact of nutritional and activity-related characteristics during adolescence on young adult cardiovascular risk factors.