Differences in disease characteristics and treatment exposures between paediatric and adult-onset inflammatory bowel disease using a registry-based cohort.

Background: Previous studies highlighted a more extensive phenotype for paediatric-onset than adult-onset inflammatory bowel disease (IBD). However, most lacked long-term follow-up, and some were conducted before the era of biologics.

Aims: The aim of this study is to compare disease characteristics and treatment exposures between paediatric-onset and adult-onset IBD.

Helicobacter pylori-Associated Extranodal Marginal Zone Lymphoma of Mucosa-Associated Tissue in Children: A Multicenter Case Series.

Objective: Data regarding Helicobacter pylori (H. pylori)-associated mucosa-associated lymphoid tissue (MALT) lymphoma in children are lacking. We aimed to characterize the diagnosis, management, and outcome of H.

Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.

Purpose: Rett syndrome is a rare neurodevelopmental disorder associated with methyl CpG binding protein 2 (MECP2) gene mutations. We aimed to characterize the long-term nutritional and gastrointestinal course of Rett syndrome in a large national patient population.

Methods: We conducted a retrospective cohort study of patients followed during 1991-2021 at a national center for Rett syndrome.

Hepatic extravasation of total parenteral nutrition following umbilical venous catheter insertion: A rare complication.

Umbilical venous catheters are commonly inserted in critically ill newborns and can lead to severe complications when misplaced. We report a preterm female with a prenatal diagnosis of duodenal atresia who presented 2 days after the surgical repair with abdominal distension, hemodynamic instability, elevated liver enzymes with severe cholestatic jaundice, and a hepatic collection on abdominal sonography. An urgent explorative laparotomy demonstrated a large amount of white, milky-appearing fluid in the abdominal cavity.

Thiopurines Maintenance Therapy in Children With Ulcerative Colitis: A Multicenter Retrospective Study.

Background And Aims: Thiopurines are an established treatment for pediatric ulcerative colitis (UC). However, data regarding safety and efficacy are lacking. We aimed to determine short and long-term outcome following thiopurines use in children with UC.

Intrahepatic portosystemic shunts, from prenatal diagnosis to postnatal outcome: a retrospective study.

Objective: Congenital intrahepatic portosystemic shunts (IHPSS) are rare vascular malformations resulting in blood bypassing the liver to the systemic circulation. Previous studies included symptomatic patients diagnosed postnatally, but the outcome of IHPSS diagnosed prenatally is rarely reported. We present a cohort of children prenatally diagnosed with IHPSS and report their natural course and outcome.

The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.

Purpose: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS).

Infantile-onset inflammatory bowel disease has variable long-term outcomes.

Objective And Aim: Infantile-onset inflammatory bowel disease (IO-IBD), defined as IBD diagnosed at age 2 years or younger, tends to be more severe and refractory to conventional treatment than IBD diagnosed at a later age. However, data about IO-IBD and its long-term follow up are limited. We thus aimed to evaluate the presentation and long-term outcomes of patients with IO-IBD in a retrospective multicenter study.

Immune response and barrier dysfunction-related proteomic signatures in preclinical phase of Crohn's disease highlight earliest events of pathogenesis.

Objective: The measure of serum proteome in the preclinical state of Crohn's disease (CD) may provide insight into biological pathways involved in CD pathogenesis. We aimed to assess associations of serum proteins with future CD onset and with other biomarkers predicting CD risk in a healthy at-risk cohort.

Design: In a nested case-control study within the Crohn's and Colitis Canada Genetics Environment Microbial Project (CCC-GEM) cohort, which prospectively follows healthy first-degree relatives (FDRs), subjects who developed CD (n=71) were matched with four FDRs remaining healthy (n=284).

A somatic hypermutation-based machine learning model stratifies individuals with Crohn's disease and controls.

Crohn's disease (CD) is a chronic relapsing-remitting inflammatory disorder of the gastrointestinal tract that is characterized by altered innate and adaptive immune function. Although massively parallel sequencing studies of the T cell receptor repertoire identified oligoclonal expansion of unique clones, much less is known about the B cell receptor (BCR) repertoire in CD. Here, we present a novel BCR repertoire sequencing data set from ileal biopsies from pediatric patients with CD and controls, and identify CD-specific somatic hypermutation (SHM) patterns, revealed by a machine learning (ML) algorithm trained on BCR repertoire sequences.

Outcomes, dosing, and predictors of vedolizumab treatment in children with inflammatory bowel disease (VEDOKIDS): a prospective, multicentre cohort study.

Background: Scarce data are available on the use of vedolizumab in children with inflammatory bowel disease (IBD). We aimed to evaluate the safety, effectiveness, and dosing of vedolizumab to induce remission of IBD.

Methods: VEDOKIDS was a paediatric, multicentre, prospective cohort study done in 17 centres in six countries.

Practice Variations in the Management of Infants With Non-IgE-Mediated Cow's Milk Protein Allergy.

Objectives: Infants with non-IgE-mediated food allergies are often referred to gastroenterologists or immunologists. We hypothesized that there are practice variations between these disciplines in the diagnosis and management of such infants.

Methods: A computerized questionnaire was distributed between pediatric gastroenterologists and immunologists.

The Variable Response to Teduglutide in Pediatric Short Bowel Syndrome: A Single Country Real-Life Experience.

Objectives: The glucagon-like peptide-2 analog Teduglutide has been shown to enhance intestinal absorption and decrease parenteral nutrition (PN) requirements in short bowel syndrome (SBS). As data in children is limited, we evaluated nationwide real-life experience and treatment outcome in children with SBS.

Methods: Longitudinal data of children treated with Teduglutide for ≥3 months was collected.

Delaying an infliximab infusion by more than 3 days is associated with a significant reduction in trough levels but not with clinical worsening.

Background: Higher infliximab trough levels (TLs) correlate with better clinical, inflammatory, and endoscopic outcomes among inflammatory bowel disease (IBD) patients. Although standard scheduled infliximab therapy regimen consists of infusions at pre-defined time-points (weeks 0, 2, 6, and every 8 weeks), short-period deviations from therapeutic schedule are common in 'real life', but the pharmacokinetic impact of these deviations has not been explored. In this study, we aim to determine whether short-period deviations from infusion schedule affect infliximab-TL.

Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?

Avoidance of fasting and regular ingestion of uncooked-cornstarch have long been the mainstay dietary treatment of Glycogen Storage Disease type Ia (GSD-Ia). However, GSD-Ia patients who despite optimal dietary treatment show poor glycemic control and are intolerant to cornstarch, present a complex clinical challenge. We pursued Whole Exome Sequencing (WES) in three such unrelated patients, to both confirm a molecular diagnosis of GSD-Ia, and seek additional variants in other genes (e.

Mucosal healing with methotrexate versus azathioprine treatment in pediatric Crohn's disease as reflected by fecal calprotectin.

Background/objectives: The current treatment goal for inflammatory bowel disease (IBD) is achievement of mucosal healing (MH). While established with biologic or azathioprine (AZA) therapies, the data on MH with methotrexate (MTX( treatment is scarce. We aimed to compare MH rate as reflected by FC in children with Crohn's disease (CD) treated with either MTX or thiopurines monotherapy.

The Impact of a Short-term Intervention on Adolescent Eating Habits and Nutritional Knowledge.

Background: Adequate dietary habits and physical activity during childhood and adolescence may promote growth and cognitive development and contribute to the prevention of chronic disease in later life. School is considered an important social environment that can promote healthy eating habits and life-style changes.

Objectives: To evaluate the effects of a school-based intervention on nutritional knowledge, eating habits, and physical activity of adolescents.