Journal Scan

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

September 2023 Journal Scan

July 2023 Journal Scan

June 2023 Journal Scan

March 2023 Journal Scan

PDFs:

Word Documents:

February 2023 Journal Scan

Historical articles of interest suggested by the Editor of Frontline Gastroenterology:

British Society of Paediatric Gastroenterology, Hepatology and Nutrition