This is a new initiative which is under development and will come online soon.
It is proposed the WGs on BSPGHAN put a list together with links to significant new publications from the previous months. Where copyright allows we will post the actual paper, but more usually it is anticipated that this will be a link. Should be a useful resource for trainees to use for Journal Club but also for those amongst us who are so busy that we sometimes miss an outstanding publication. I hope that all the chairs of the BSPGHAN WGs will suggest papers so that our education / CME base remains broad.
Council is working on the mechanics of this but I hope we shall see it soon.
Here is a link of immense importance to the very few members of the Society who work purely in motility, but it’s a really tantalising paper worthy of discussion in the context of in house journal clubs (I hope you agree)!
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders
DOI: 10.1097/MPG.0000000000003400
Abstract
Background and Aims:
The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease.
Methods:
Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored.
Results:
One hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3–29.4). Most patients underwent abdominal surgery (66%), about half required intermittent bladder catheterization (48.5%), and more than half were parenteral nutrition (PN)-dependent (53%). One-quarter of the patients died (25.7%), and 6 required transplant (5.8%). Girls had a higher rate of microcolon (P= 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (<2 years of age) was associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) features. There was no statistical association between disease characteristics and CADD scores.
Conclusions:
Damaging ACTG2 variants are rare, often associated with MMIHS phenotype, and overall have a wide phenotypic variation. Symptoms usually present in the perinatal period but can also appear at a later age. The course of the disease is marked by frequent need for surgical interventions, PN support, and mortality. Poor outcomes are more common among girls with ACTG2 variants.
October 2023 Journal Scan
- Horizon scanning: new and future therapies in the management of inflammatory bowel disease
- Opportunities and challenges for hepatitis B cure
- Metabolic Sequelae: The Pancreatitis Zeitgeist of the 21st Century
- AGA Clinical Practice Update on the Epidemiology, Evaluation, and Management of Exocrine Pancreatic Insufficiency: Expert Review
- HLA-DQA1*05 Genotype and Immunogenicity to Tumor Necrosis Factor-a Antagonists: A Systematic Review and Meta-analysis
- Persistent villous atrophy predicts development of complications and mortality in adult patients with coeliac disease: a multicentre longitudinal cohort study and development of a score to identify highrisk patients
- Postendoscopy Care for Patients Presenting With Esophageal Food Bolus Impaction: A Population-Based Multicenter Cohort Study
- Efficacy of Probiotics in Irritable Bowel Syndrome: Systematic Review and Meta-analysis
- Real-World Experience With Tofacitinib Dose De-Escalation in Patients With Moderate and Severe Ulcerative Colitis
- Update on Endoscopic Dysplasia Surveillance in Inflammatory Bowel Disease
- Review article: Updated management of acute severe ulcerative colitis: From steroids to novel medical strategies
- A pilot genome-wide association study meta-analysis of gastroparesis
September 2023 Journal Scan
- A mechanism by which gut microbiota elevates permeability and inflammation in obese/diabetic mice and human gut
- Consensus definition of sludge and microlithiasis as a possible cause of pancreatitis
- Post-operative prevention and monitoring of Crohn’s disease recurrence
- Stem cell therapy: light in the tunnel for penetrating Crohn’s disease
- Clinical and genetic determinants of severe acute pancreatitis: A genetic association study in the UK Biobank
- Enterochromaffin Cells: Small in Number but Big in Impact
- Psychological Processes, Not Physiological Parameters, Are Most Important Contributors to Symptom Severity in Patients With Refractory Heartburn/Regurgitation Symptoms
- The efficacy and safety of thalidomide in the treatment of refractory Crohn’s disease in adults: a double-center, double-blind, randomized–controlled trial
- Immunomodulators: still having a role?
- An update on the management of non-variceal upper gastrointestinal bleeding
- Steps Toward a Greener Endoscopy Unit
- Optimizing the Utility of Anorectal Manometry for Diagnosis and Therapy: A Roundtable Review and Recommendations
- Preclinical Serological Signatures are Associated With Complicated Crohn’s Disease Phenotype at Diagnosis
- Microbiota-derived butyrate dampens linaclotide stimulation of the guanylate cyclase C pathway in patient-derived colonoids
- Longitudinal Fecal Calprotectin Profiles Characterize Disease Course Heterogeneity in Crohn’s Disease
- Irritable bowel syndrome and mental health comorbidity — approach to multidisciplinary management
- The impact of primary peristalsis, contractile reserve, and secondary peristalsis on esophageal clearance measured by timed barium esophagogram
- How to effectively use and interpret the barium swallow: Current role in esophageal dysphagia
- Improved diagnosis of reflux hypersensitivity
- Single-cell atlas of the human neonatal small intestine affected by necrotizing enterocolitis
- Clinical Effect of Mirikizumab Treatment on Bowel Urgency in Patients with Moderately to Severely Active Ulcerative Colitis and the Clinical Relevance of Bowel Urgency Improvement for Disease Remission
- Pediatric Drug-Associated Pancreatitis Reveals Concomitant Risk Factors and Poor Reliability of Causality Scoring: Report From INSPPIRE
DOI: 10.1097/MPG.0000000000003898 - CFTR Modulators for the Gastroenterologist
DOI: 10.1097/MPG.0000000000003904 - Interleukin-22 suppresses major histocompatibility complex II in mucosal epithelial cells
July 2023 Journal Scan
- Development of a Practical Guide to Implement and Monitor Diet Therapy for Eosinophilic Esophagitis
- Differential Diagnosis of Chronic Diarrhea – An Algorithm to Distinguish Irritable Bowel Syndrome With Diarrhea From Other Organic Gastrointestinal Diseases, With Special Focus on Exocrine Pancreatic Insufficiency
- Minimally invasive endoscopic therapies for gastro-oesophageal reflux disease
- Bile acids and their receptors: Potential therapeutic targets in inflammatory bowel disease
- Comparative Effectiveness of Anti-TNF in Combination With Low-Dose Methotrexate vs Anti-TNF Monotherapy in Pediatric Crohn’s Disease: A Pragmatic Randomized Trial
- Dupilumab: The New Kid on the Block for Management of Eosinophilic Esophagitis
- Filgotinib for the Treatment of Small Bowel Crohn’s Disease: The DIVERGENCE 1 Trial
- The management of adult patients with severe chronic small intestinal dysmotility
- Pediatric Intestinal Pseudo-Obstruction: Progress and Challenges
- The Role of a Colon-in-Continuity in Short Bowel Syndrome
- Nutritional Management of Intestinal Failure due to Short Bowel Syndrome in Children
- Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction
- Defining Interactions Between the Genome, Epigenome, and the Environment in Inflammatory Bowel Disease: Progress and Prospects
- Is the Quantification of Interstitial Cells of Cajal in Gastric Biopsy Samples in Patients With Gastroparesis Ready for Prime Time?
June 2023 Journal Scan
- BAPEN / BIFA Guidelines on the Diagnosis and Management of Intestinal Failure Associated Liver Disease (IFALD)
- Extracellular Vesicles in Transplantation
- Mesenchymal Stem Cell-Derived Secretome: A Potential Therapeutic Option for Autoimmune and Immune-Mediated Inflammatory Diseases
- The Unique Immunomodulatory Properties of MSC-Derived Exosomes in Organ Transplantation
- Artificial Intelligence Applications in Hepatology
March 2023 Journal Scan
PDFs:
- Comparative Risk of Serious Infections With Biologic Agents and Oral Small Molecules in Inflammatory Bowel Diseases: A Systematic Review and Meta-Analysis
- Management of Pancreatic Fluid Collections – An Evidence-based Approach
- World Journal of Gastroenterology – Precision medicine in inflammatory bowel disease: Individualizing the use of biologics and small molecule therapies
- Improving IBD outcomes in the era of many treatment options
- Towards Improving Diagnosis of Dyssynergic Defecation: A Small Step or a New Paradigm?
- High Discovery Rate of Duodenal and Gastric Eosinophilia in Patients With Unexplained Moderate–Severe Abdominal Symptoms: A Prospective US Multisite Study
- Clinical Implications of Low-grade Duodenal Eosinophilia in Functional Dyspepsia – A Prospective Real-life Study
- Complications and Utility of Gastrointestinal Endoscopy Post Hematopoietic Stem Cell Transplantation: An 11 Year Experience
- Evaluation and Management of Postsurgical Patient With Hirschsprung Disease Neurogastroenterology & Motility Committee: Position Paper of North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN)
- Fecal Microbiota Transplantation Across the Lifespan: Balancing Efficacy, Safety, and Innovation
- Understanding neuroimmune interactions in disorders of gut–brain interaction: from functional to immunemediated disorders
- Pediatric-to-Adult Transfer of Care in Patients With Pancreas Disease: Recommendations for Care and Research Opportunities
- Microbial transmission, colonisation and succession: from pregnancy to infancy
Word Documents:
- Exocrine pancreatic dysfunction in IBD
- Pathogenic TRPV6 variants increase the risk of recurrent acute pancreatitis or chronic pancreatitis in children
- Antibiotic lock solutions prevent CRBSI – a systematic review
- Diagnostic yield of routine biopsies in Paediatric Gastrointestinal Endoscopy
- Gastrointestinal Endoscopy post HSCT
- Treatment of Rumination syndrome in children
- Dupilumab, A monoclonal antibody for the treatment of eosinophilic oesophagitis
- Efficacy and Safety of Drugs for Gastroparesis: Systematic Review
February 2023 Journal Scan
- Drug Treatments for Gastroparesis—Why Is the Cupboard So Bare?
- Advances in Acute and Chronic Pancreatitis
- Minimally invasive endoscopic therapies for gastro-oesophageal reflux disease
- The role of high serum triglyceride levels on pancreatic necrosis development and related complications
- IV Fluids in Pancreatitis
- Drugs for Celiac Disease
- Coproduced resources to support parents caring for children with gastrostomies
- Post COVID IBS
- Probiotics for the Management of Pediatric Gastrointestinal Disorders: Position Paper of the ESPGHAN Special Interest Group on Gut Microbiota and Modifications
- Effect of Ramadan intermittent fasting on inflammatory markers, disease severity, depression, and quality of life in patients with inflammatory bowel diseases: A prospective cohort study
- Aetiology, diagnosis and management of small intestinal bacterial overgrowth
Historical articles of interest suggested by the Editor of Frontline Gastroenterology:
- Aetiology, diagnosis and management of small intestinal bacterial overgrowth
- Anorexia nervosa and the gastrointestinal tract
- Diagnostic ileocolonoscopy: getting the basics right
- Gastrointestinal symptoms and nutritional issues in patients with hypermobility disorders: assessment, diagnosis and management
- Management of Crohn’s stricture: medical, endoscopic and surgical therapies
January 2023 Journal Scan
- AASLD practice guidance on primary sclerosing cholangitis and cholangiocarcinoma
- Enteral Nutrition in Preterm Infants (2022): A Position Paper From the ESPGHAN Committee on Nutrition and Invited Experts
- Faecal microbiota transplantation with anti-inflammatory diet (FMT-AID) followed by anti-inflammatory diet alone
- Promote or Prevent? Gut Microbial Function and Immune Status May Determine the Effect of Fiber in Inflammatory Bowel Disease
- Gastrointestinal symptoms and nutritional issues in patients with hypermobility disorders: assessment, diagnosis and management
- Understanding neuroimmune interactions in disorders of gut–brain interaction: from functional to immunemediated disorders
- Intestinal Ultrasound for the Pediatric Gastroenterologist: A Guide for Inflammatory Bowel Disease Monitoring in Children
- Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
- Probiotics for the Management of Pediatric Gastrointestinal Disorders: Position Paper of the ESPGHAN Special Interest Group on Gut Microbiota and Modifications
- Rare, Overlooked, or Underappreciated Causes of Recurrent Abdominal Pain: A Primer for Gastroenterologists