Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

Objective: A constitutional disease-causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%-60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV-positive JPS compared to DCV-negative JPS.

Methods: Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group.

A scoping review of the qualitative literature reporting experiences of living with a stoma for inflammatory bowel disease.

Aims: Surgical treatment for inflammatory bowel disease (IBD) potentially includes stoma formation. Although positive clinical outcomes are widely reported, patients' responses to stoma surgery, including coming to terms with and adjusting to the stoma, vary widely. This scoping review charts the qualitative literature addressing the question: What is known about any personal psychosocial and quality of life factors that inform adjustment to living well with an intestinal stoma for IBD?

Design: A scoping review methodology was employed.

Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.

Background: Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma pathway. In this model adenomas with deficient mismatch repair have an increased probability of acquiring additional cancer driver mutation(s) resulting in more rapid progression to malignancy. If this model was accurate, the success of colonoscopy in preventing CRC would be a function of the intervals between colonoscopies and mean sojourn time of detectable adenomas.

Doug Altman, medical statistician par excellence: What can radiologists learn from his legacy?

This narrative review describes our experience of working with Doug Altman, the most highly cited medical statistician in the world. Doug was particularly interested in diagnostics, and imaging studies in particular. We describe how his insights helped improve our own radiological research studies and we provide advice for other researchers hoping to improve their own research practice.

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.

Background: Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers.

Methods: A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added.

Gut Microbiome and Its Role in Valvular Heart Disease: Not a "Gutted" Relationship.

The role of the gut microbiome (GM) and oral microbiome (OM) in cardiovascular disease (CVD) has been increasingly being understood in recent years. It is well known that GM is a risk factor for various CVD phenotypes, including hypertension, dyslipidemia, heart failure and atrial fibrillation. However, its role in valvular heart disease (VHD) is less well understood.

Research and practice priorities in pilonidal sinus disease: a consensus from the PITSTOP study.

Aim: Pilonidal sinus disease is a common condition treated by colorectal surgeons. There is a lack of literature in the field to guide optimal management of this condition. As part of the PITSTOP study, we aimed to identify policy and research priorities to provide direction to the field.

AI-assisted capsule endoscopy reading in suspected small bowel bleeding: a multicentre prospective study.

Background: Capsule endoscopy reading is time consuming, and readers are required to maintain attention so as not to miss significant findings. Deep convolutional neural networks can recognise relevant findings, possibly exceeding human performances and reducing the reading time of capsule endoscopy. Our primary aim was to assess the non-inferiority of artificial intelligence (AI)-assisted reading versus standard reading for potentially small bowel bleeding lesions (high P2, moderate P1; Saurin classification) at per-patient analysis.

The environmental impact of small-bowel capsule endoscopy.

Introduction:  The environmental impact of endoscopy, including small-bowel capsule endoscopy (SBCE), is a topic of growing attention and concern. This study aimed to evaluate the greenhouse gas (GHG) emissions (kgCO) generated by an SBCE procedure.

Methods:  Life cycle assessment methodology (ISO 14040) was used to evaluate three brands of SBCE device and included emissions generated by patient travel, bowel preparation, capsule examination, and video recording.

study of radiosensitivity in colorectal cancer cell lines associated with Lynch syndrome.

Introduction: Lynch syndrome patients have an inherited predisposition to cancer due to a deficiency in DNA mismatch repair (MMR) genes which could lead to a higher risk of developing cancer if exposed to ionizing radiation. This pilot study aims to reveal the association between MMR deficiency and radiosensitivity at both a CT relevant low dose (20 mGy) and a therapeutic higher dose (2 Gy).

Methods: Human colorectal cancer cell lines with (dMMR) or without MMR deficiency (pMMR) were analyzed before and after exposure to radiation using cellular and cytogenetic analyses i.

Defining predictors of responsiveness to advanced therapies in Crohn's disease and ulcerative colitis: protocol for the IBD-RESPONSE and nested CD-metaRESPONSE prospective, multicentre, observational cohort study in precision medicine.

Introduction: Characterised by chronic inflammation of the gastrointestinal tract, inflammatory bowel disease (IBD) symptoms including diarrhoea, abdominal pain and fatigue can significantly impact patient's quality of life. Therapeutic developments in the last 20 years have revolutionised treatment. However, clinical trials and real-world data show primary non-response rates up to 40%.

Antidepressant treatment in inflammatory bowel disease: a systematic review and meta-analysis.

Around 25% of patients with inflammatory bowel disease (IBD) have depressive symptoms, yet antidepressants have been poorly studied in IBD. We systematically searched IBD studies testing antidepressants in four databases. Outcomes were depressive symptoms, anxiety, IBD disease activity, quality of life (QoL) and adverse events.

The use of faecal microbiota transplant as treatment for recurrent or refractory Clostridioides difficile infection and other potential indications: second edition of joint British Society of Gastroenterology (BSG) and Healthcare Infection Society (HIS) guidelines.

The first British Society of Gastroenterology (BSG) and Healthcare Infection Society (HIS)-endorsed faecal microbiota transplant (FMT) guidelines were published in 2018. Over the past 5 years, there has been considerable growth in the evidence base (including publication of outcomes from large national FMT registries), necessitating an updated critical review of the literature and a second edition of the BSG/HIS FMT guidelines. These have been produced in accordance with National Institute for Health and Care Excellence-accredited methodology, thus have particular relevance for UK-based clinicians, but are intended to be of pertinence internationally.

Influence of diffusion weighted imaging and contrast enhanced T1 sequences on the diagnostic accuracy of magnetic resonance enterography for Crohn's disease.

Objectives: To evaluate the additional diagnostic benefit of diffusion weighted imaging (DWI) and contrast enhanced (CE) images during MR enterography (MRE) of Crohn's disease.

Methods: Datasets from 73 patients (mean age 32; 40 male) (28 new-diagnosis, 45 relapsed) were read independently by two radiologists selected from a pool of 13. Radiologists interpreted datasets using three sequential sequence blocks: (1) T2 weighted and steady state free precession gradient echo (SSFP) images alone (T2^); (2) T2 weighted and SSFP images with DWI (T2 + DWI^) and; (3) T2 weighted images, SSFP, DWI and post-contrast enhanced (CE) T1 images (T2 + DWI + CE^), documenting presence, location, and activity of small bowel disease.

Review article: A practical approach to persistent gastrointestinal symptoms in inflammatory bowel disease in remission.

Background: Persistent gastrointestinal symptoms are prevalent in adult patients with inflammatory bowel disease (IBD), even when endoscopic remission is reached. These symptoms can have profound negative effects on the quality of life of affected patients and can be difficult to treat. They may be caused by IBD-related complications or comorbid disorders, but they can also be explained by irritable bowel syndrome (IBS)-like symptoms.

Acute Severe Ulcerative Colitis Flare Complicated by Myopericarditis and Infliximab-Induced Hepatitis.

Unlabelled: Ulcerative colitis (UC) is an autoimmune disease associated with both intestinal and extraintestinal manifestations. The latter may include heart complications, such as myopericarditis leading to life-threatening arrythmias. Nowadays, UC is commonly treated with biologic medications and infliximab is the first line therapy in an outpatient setting, while it is also used as rescue therapy in acute severe UC.

Stoma care and diet in the community.

Community nurses are often the common link with people in the community with healthcare services. Community nurses are involved in the care of people living with a temporary or permanent stoma and might be asked specialist questions of which they may feel uncertain of appropriate responses. This article describes some basic facts about stoma as well as specialist dietary considerations; which can be used to improve symptoms such as constipation as well as how to prevent issues such as a food bolus obstruction.