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.

Donor human milk treated by high-pressure processing improves the body growth of growth-restricted mice pups.

Introduction: Pasteurized human donor milk (DM) is frequently used for feeding preterm newborns and extrauterine growth-restricted (EUGR) infants. Most human milk banks performed a pasteurization of DM using the standard method of Holder pasteurization (HoP) which consists of heating milk at 62.5°C for 30 min.

[Idiopathic pulmonary fibrosis: Desperately seeking a model].

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and fatal lung disease of which the origin and development mechanisms remain unknown. The few available pharmacological treatments can only slow the progression of the disease. The development of curative treatments is hampered by the absence of experimental models that can mimic the specific pathophysiological mechanisms of IPF.

Home enteral nutrition does not decrease oral feeding in children during the first year of nutritional support.

Background: Enteral nutrition is necessary when nutritional status is poor and oral intake is insufficient or impossible. Although it has been suspected to reduce spontaneous oral feeding, no study has formally assessed the influence of enteral nutrition on pediatric oral intake. The present study aimed to evaluate variation in oral feeding intake after enteral nutrition initiation, and to identify factors influencing oral feeding.

High hydrostatic pressure is similar to Holder pasteurization in preserving donor milk antimicrobial activity.

Background: The microbiological safety of donor milk (DM) is commonly ensured by Holder pasteurization (HoP, 62.5 °C for 30 min) in human milk banks despite its detrimental effects on bioactive factors. We compared the antimicrobial properties of DM after Holder pasteurization treatment or High Hydrostatic Pressure processing (HHP, 350 MPa at 38 °C), a non-thermal substitute for DM sterilization.

Proton pump inhibitors in esophageal atresia: A systematic review and meta-analysis.

Gastroesophageal reflux disease (GERD) is frequent and prolonged in esophageal atresia (EA) pediatric patients requiring routine use of proton pump inhibitors (PPIs). However, there are still controversies on the prophylactic use of PPIs and the efficacy of PPIs on GERD and EA complications in this special condition. The aim of the study is to assess the prophylactic use of PPIs in pediatric patients with EA and its complications.

An Overview of the Influence of Breastfeeding on the Development of Inflammatory Bowel Disease.

The first 1000 days of life is a critical period that contributes significantly to the programming of an individual's future health. Among the many changes that occur during this period early in life, there is growing evidence that the establishment of healthy gut microbiota plays an important role in the prevention of both short- and long-term health problems. Numerous publications suggest that the quality of the gut microbiota colonisation depends on several dietary factors, including breastfeeding.

The French Experience with a Population-Based Esophageal Atresia Registry (RENATO).

This paper presented a national register for esophageal atresia (EA) started in January 2008. We report our experience about the conception of this database and its coordination. Data management and data quality are also detailed.

Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.

Background And Aim: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases.

Approach And Results: Retrospective multicenter analysis of liver disease (transaminases > 30 IU/L and/or abnormal liver imaging) in patients with TRG mutations.

Are anxiety and depression associated with cognition and cardiovascular function in young male and female adults?

The results of recent studies suggested that emotional disorders (such as anxiety and depression), cognitive impairments and cardiovascular disorders are related on the subclinical level. These major health issues are often concomitant and have complex, sex-dependent relationships; it is therefore important to study these issues concomitantly in the general population, in order to gain a better understanding of early-stage subclinical relationships between these conditions. The objective of this exploratory study was to assess correlations between anxiety, depression, cognition, and endothelial function in young adults from the general population.

Short-chain fatty acids levels in human milk are not affected by holder pasteurization and high hydrostatic pressure processing.

Sterilized donor milk (DM) is frequently used for feeding preterm infants. To date, the effect of different modes of DM sterilization on short-chain fatty acids (SCFAs) remains unknown. We aimed to quantify SCFAs in DM samples after two types of milk sterilization: the Holder pasteurization (HoP) and a high hydrostatic pressure (HP) processing.

Endoscopic management of esophageal mucosal bridges in children with esophageal atresia.

Background And Study Aims: Esophageal mucosal bridge (EMB) may be diagnosed at the anastomotic site in children operated on for esophageal atresia (EA) but so far only a few cases (n = 4) have been reported. This study aimed to characterize EMB in children with EA, risk factors, and treatment.

Patients And Methods: This retrospective multicenter study recorded patient's characteristics, EMB diagnosis circumstances, endoscopic management, follow-up, and EMB recurrence in children with EA aged less than 18 years, compared with paired EA patients without EMB.

Refeeding Syndrome in Pediatric Age, An Unknown Disease: A Narrative Review.

Refeeding syndrome (RS) is characterized by electrolyte imbalances that can occur in malnourished and abruptly refed patients. Typical features of RS are hypophosphatemia, hypokalemia, hypomagnesemia, and thiamine deficiency. It is a potentially life-threatening condition that can affect both adults and children, although there is scarce evidence in the pediatric literature.

The body mass index increases the genetic risk scores' ability to predict risk of hepatic damage in European adolescents: The HELENA study.

Background: Hepatic disorders are often complex and multifactorial, modulated by genetic and environmental determinants. During the last years, the hepatic disease has been progressively established from early stages in life. The use of genetic risk scores (GRS) to predict the genetic susceptibility to a particular phenotype among youth has gained interest in recent years.