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.

Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial.

Background: In patients with Alagille syndrome, cholestasis-associated clinical features can include high serum bile acids and severe pruritus that can necessitate liver transplantation. We aimed to evaluate the efficacy and safety of the ileal bile acid transporter inhibitor odevixibat versus placebo in patients with Alagille syndrome.

Methods: The ASSERT study was a phase 3, double-blind, randomised, placebo-controlled trial that enrolled patients at 21 medical centres or hospitals in ten countries (Belgium, France, Germany, Italy, Malaysia, the Netherlands, Poland, Türkiye, the UK, and the USA).

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.

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.

Complications of one-step button percutaneous endoscopic gastrostomy in children.

To assess the complications of one-step button percutaneous endoscopic gastrostomy (B-PEG) and determine risk factors for developing stomal infections or gastropexy complications. A retrospective study of 679 children who underwent a B-PEG procedure in a single tertiary care center over a 10-year period to December 2020 was conducted. Patient characteristics, early complications (occurring ≤ 7 days after the procedure), late complications (> 7 days after the procedure), and outcomes were collected from medical records.

Tube Feeding in Neurologically Disabled Children: Hot Topics and New Directions.

Tube feeding is a therapeutic intervention that is aimed at providing nutritional support and is important in the nutritional and gastrointestinal management of children with neurological disability (ND) worldwide. Since the publication of the first European Society of Gastroenterology, Hepatology, and Nutrition (ESPGHAN) consensus paper in 2017, some aspects of tube-feeding modalities have attracted the interest of the scientific community more than others, including the type of enteral formulas, enteral access, and the challenging practice of tube weaning. The purpose of this review was to report on the most recent hot topics and new directions in tube-feeding strategies for children with ND.

Efficacy and tolerance of enteral nutrition in children with biliary atresia awaiting liver transplantation.

Objectives: Malnutrition is common in children with biliary atresia (BA) awaiting liver transplantation (LT). Few studies have evaluated the effectiveness of enteral nutrition (EN) in these patients. The objective of this work was to assess the efficacy and tolerance of EN in children with BA awaiting LT.

Nutritional status at age 1 year in patients born with esophageal atresia: A population-based, prospective cohort study.

Objective: Despite recent progress in caring for patients born with esophageal atresia (EA), undernutrition and stunting remain common. Our study objective was to assess nutritional status in the first year after birth with EA and to identify factors associated with growth failure.

Study Design: We conducted a population-based study of all infants born in France with EA between 2010 and 2016.

Comparison of Endoscopic Dilatation and Heller's Myotomy for Treating Esophageal Achalasia in Children: A Multicenter Study.

Objective: To compare the efficacy of, and complications from, the 2 main treatments for achalasia: endoscopic dilatation and surgical cardiomyotomy (Heller's myotomy).

Study Design: We retrospectively collected data on children treated for achalasia over an 11-year period from 8 tertiary pediatric centers. A line of treatment was defined as performing either Heller's myotomy or 1-3 sessions of endoscopy dilatation over 3 months.

Noninvasive Pediatric Liver Fibrosis Measurement: Two-Dimensional Shear Wave Elastography Compared With Transient Elastography.

Objectives: Although transient elastography (TE) is the primary noninvasive method for assessing liver fibrosis, its use remains to be validated in children. This study aims to evaluate the agreement between two-dimensional ultrasound shear wave elastography (2D-SWE) and TE to assess pediatric liver stiffness method.

Methods: During the 18-month study, we prospectively included 101 consecutive children (median age: 8.

Long term digestive outcome of œsophageal atresia.

Œsophageal atresia is a rare neonatal malformation consisting in an interruption of the continuity of the œsophagus, with or without a tracheo-œsophageal fistula. Although mortality rate is now low and most cases can benefit from successful surgical repair soon after birth, morbidity -specially digestive and nutritional-remains high. Many of the adults born with œsophageal atresia will suffer from dysphagia, gastro-œsophageal reflux and/or œsophageal dysmotility, leading to nutritional consequences and quality of life impairment.

Predictors of anastomotic strictures following œsophageal atresia repair.

Objectives: To identify the risk factors for anastomotic, refractory and recurrent strictures and to establish whether anastomotic stricture is associated with antireflux surgery.

Design: This prospective national multicentre study included all infants born with oesophageal atresia (OA) over an 8-year period. Data on OA and complications were collected at birth and at 1 year old.

Endoscopic Gastrojejunostomy in Infants and Children.

Objective: To evaluate the feasibility of endoscopic gastrojejunal tube (GJT) placement in infants and children.

Study Design: All children undergoing endoscopic GJT placement between January 2010 and December 2019 were included in this single-center retrospective study. Difficulties with and failure of GJT placement, complication rates, and device longevity, efficacy, and duration were assessed.

Prevalence of and Risk Factors for Sagittal Posture Abnormalities in Children Born With Esophageal Atresia: A Prospective Cohort Study.

Scoliosis is a well-described complication of esophageal atresia (EA) caused by the associated spine malformations and/or thoracotomy. However, the sagittal posture abnormalities in patients with EA have not been described. The aim of this study was to evaluate the prevalence of and risk factors for sagittal posture abnormalities at the age of 6 years in patients operated on for EA.

Use of Hypnosis in Paediatric Gastrointestinal Endoscopy: A Pilot Study.

Experience of hypnosis in gastrointestinal (GI) endoscopy is scarce in children. Our aims were to assess the rate of successful GI endoscopy performed using hypnosis alone or in combination with midazolam, with or without additional equimolar mixture of oxygen and nitrous oxide (EMONO), and to identify predictive factors of successful endoscopy in children. This prospective single-centre study included children older than 6 years requiring a diagnostic esophagogastroduodenoscopy (EGD) or rectosigmoidoscopy.

Esophageal Atresia and Respiratory Morbidity.

Background And Objectives: Respiratory diseases are common in children with esophageal atresia (EA), leading to increased morbidity and mortality in the first year. The primary study objective was to identify the factors associated with readmissions for respiratory causes in the first year in EA children.

Methods: A population-based study.

Comparison of Symptom Control in Pediatric Gastroparesis Using Endoscopic Pyloric Botulinum Toxin Injection and Dilatation.

Objectives: The objective of this study was to assess the tolerance and efficacy of endoscopic intrapyloric botulinum toxin injection compared with pyloric dilatation in children with gastroparesis.

Methods: This was a retrospective descriptive multicentre study that included pediatric patients treated between 2010 and 2018 at 4 tertiary hospitals.

Results: Data were collected for 24 patients.

Recurrence of Primary Sclerosing Cholangitis After Liver Transplant in Children: An International Observational Study.

Background And Aims: Recurrent primary sclerosing cholangitis (rPSC) following liver transplant (LT) has a negative impact on graft and patient survival; little is known about risk factors for rPSC or disease course in children.

Approach And Results: We retrospectively evaluated risk factors for rPSC in 140 children from the Pediatric PSC Consortium, a multicenter international registry. Recipients underwent LT for PSC and had >90 days of follow-up.

Prevalence of acid gastroesophageal reflux disease in infants with esophageal atresia/tracheoesophageal fistula.

Background: Given the high prevalence and complication risks of acid gastroesophageal reflux (GERD) in the first months of life in infants with esophageal atresia, the ESPGHAN/NASPGHAN consensus statement recommends systematic treatment with proton pump inhibitors (PPIs) until the age of 1 year and checking for acid GERD thereafter. However, these recommendations have not been evaluated.

Methods: This prospective study was conducted from 2007 to 2016.

Risk Factors of Early Mortality and Morbidity in Esophageal Atresia with Distal Tracheoesophageal Fistula: A Population-Based Cohort Study.

Objective: To identify the risk factors for early mortality and morbidity in a population with distal esophageal atresia (EA)-tracheoesophageal fistula.

Study Design: Cohort study from a national register. Main outcomes and measures included early mortality, hospital length of stay (LoS), need for nutritional support at 1 year of age as a proxy measure of morbidity, and complications during the first year of life.

Weaning children from prolonged enteral nutrition: A survey of practice on behalf of the French Society of Paediatric Gastroenterology, Hepatology, and Nutrition.

Background: No consensus currently exists on tube-weaning practice worldwide. The aim of this study was to describe tube-weaning practice (indications and modalities) of a panel of pediatric gastroenterologists involved in the management of prolonged enteral nutrition (EN).

Methods: A cross-sectional survey of pediatric gastroenterologists involved in the management of children receiving prolonged (>3 months) EN who were likely to be weaned was conducted.

Factors Associated With Success and Failure of Weaning Children From Prolonged Enteral Nutrition: A Retrospective Cohort Study.

Objectives: The aims of the present study were to assess the efficacy of a tube weaning program, and to identify factors associated with success and failure.

Methods: This was a retrospective cohort study including all pediatric patients on enteral nutrition (EN) for ≥6 months for whom at least 1 attempt of weaning was performed in a single tertiary referral center from 2012 to 2017, with a minimum follow-up of 6 months after EN discontinuation. Weaning program was individualized to each child.