BMJ Open Gastroenterology最新文献

{"title":"Exploring the feasibility of home-delivered capsule endoscopy with 5G support: innovations and carbon footprint insights.","authors":"Gohar Jalayeri Nia, Cassie Conway, Frances Ward, Sheena Dungey, Linda Streames, Bei Bei Liu, Ian Lo Lei, James Cameron, Hagen Wenzek, Chander Shekhar, Sally Eason, Ramesh P Arasaradnam","doi":"10.1136/bmjgast-2024-001500","DOIUrl":"10.1136/bmjgast-2024-001500","url":null,"abstract":"<p><strong>Introduction: </strong>Colorectal cancer (CRC) poses a significant global health threat, necessitating early detection. Traditional diagnostic tools like optical colonoscopy have limitations prompting our '5G-SUCCEEDS' initiative to explore a novel approach involving remote colon capsule endoscopy (CCE).</p><p><strong>Methods: </strong>This prospective feasibility study was conducted at a single hospital in England. Between December 2022 and September 2023, we introduced a remote CCE service within the 5G-SUCCEEDS framework. We undertook a feasibility study of CCE in patients with low-risk/moderate-risk CRC stratified by faecal haemoglobin. Outcomes included carbon footprint analysis (outlined through three potential clinical pathways) and patient-reported outcomes through structured questionnaires and interviews.</p><p><strong>Results: </strong>Among 25 participants, 88% expressed satisfaction with remote CCE. 82% were willing to have remote CCE if clinically indicated in future. CCE findings included adenomatous polyps (58%), normal results (17%) and diverticulosis (21%), with no cancers identified in this pilot. Notably, we found that the carbon footprint associated with delivery of CCE at home (pathway 3) was lower compared with CCE delivered in a clinical setting (pathway 2). A fully optimised, automated scaled-up pathway would combine the delivery and collection of CCE equipment within a local area to reduce the carbon footprint of the travel element by 75%. Moreover, the conversion rate into a colonoscopy pathway is not static and clinicians acknowledge that this could be as low as 28%. Carbon footprint is more favourable for home-delivered CCE in the optimised scenario, while less so when considering the need for additional procedures (colonoscopy conversion).</p><p><strong>Conclusion: </strong>The 5G-SUCCEEDS initiative highlights the feasibility and advantages of home-based diagnostics using CCE.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mixed-method Irish study exploring the role of diet in IBD based on an online questionnaire and a patient panel opinion.","authors":"Naomi Hanrahan, Victoria Spillane, Kevin Moore, Mick Dineen, Aoife Murphy, Ana Velikonja, Margot Hurley, Majella O'Keeffe, Silvia Melgar","doi":"10.1136/bmjgast-2023-001251","DOIUrl":"10.1136/bmjgast-2023-001251","url":null,"abstract":"<p><strong>Objective: </strong>Diet is a risk factor in inflammatory bowel diseases (IBD) pathogenesis. This study aims to examine the dietary patterns and beliefs of Irish patients living with IBD through an online questionnaire and subsequent open discussions with an IBD patient collaborator panel (PCP). All data presented here are selected and presented following the PCP's suggestions and views.</p><p><strong>Design: </strong>This mixed-method study included an online questionnaire using a short food frequency questionnaire examining dietary patterns, dietary opinions, beliefs and behaviours (phase I). Six in-person PCP sessions were conducted, where findings from the online questionnaire, diet and lifestyle in the context of IBD were discussed in depth (phase II).</p><p><strong>Results: </strong>The questionnaire revealed that respondents with active IBD are associated with the consumption of high-sugar, processed and meat-based foods while reducing their consumption of high-fibre foods. Individuals with active Crohn's disease have a decrease in overall daily energy consumption and a significant reduction in intake of fibre, non-starch polysaccharides, micronutrients [B vitamins (B1, B2, and B9), vitamin C, calcium] and trace elements (iron, zinc, copper and manganese). The PCP reported that food tolerability is limited during relapse, leading patients to prefer simple carbohydrates for energy, consistent with the dietary intake data. The PCP reported that most dietary advice was received during hospitalisation (relapse), focused on food avoidance, with little follow-up during remission. The consensus among the PCP was that factors, such as disease type, psychological aspects, dietary understanding and support, can influence peoples' dietary choices.</p><p><strong>Conclusion: </strong>In summary, we show that dietary intake in people with IBD varies and may depend on several factors, not just the disease itself. This PCP desires more dietary information and professional support outside of hospitalisation to assist with disease management.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patients and clinicians have different priorities when discussing pain in the IBD clinic.","authors":"Danielle Huisman, Esther Andrews, Amanda C de C Williams, Miles Parkes, Christine Norton","doi":"10.1136/bmjgast-2024-001540","DOIUrl":"10.1136/bmjgast-2024-001540","url":null,"abstract":"<p><strong>Objective: </strong>Pain in inflammatory bowel disease (IBD) is frequently neglected/overlooked, particularly in ulcerative colitis, and communication about pain can be suboptimal. The current study juxtaposes clinicians' conceptualisations of patients' pain with patient narratives. The aim was to inform the development of a pain reporting tool and provide guidance for better communication about IBD pain.</p><p><strong>Methods: </strong>In-depth semistructured interviews with 13 IBD clinicians in the UK: gastroenterologists (n=5), colorectal surgeons (n=2), specialist nurses (n=4) and psychologists (n=2). Primary analysis of these data and secondary analysis of earlier interviews about pain in IBD with clinicians (n=12) and patients (n=71) followed principles of reflexive thematic analysis. Themes were compared across participant groups.</p><p><strong>Results: </strong>Clinicians state that they regularly ask about pain in Crohn's disease, but not ulcerative colitis. Patients, however, report inconsistent attention to pain in either condition, with power dynamics constraining their pain report. Some clinicians acknowledged that they assume that patients manage their pain independently, leading to insufficient follow-up (Theme 1: Contradictions and ambiguities when discussing pain in IBD). Inadequate acknowledgement of pain by clinicians was attributed to time constraints and systemic issues. Where inflammatory or structural causes were lacking, some clinicians default to attributing pain to irritable bowel syndrome, contributing to patients feeling uncared for (Theme 2: Consequences of limited tools and time for pain). Addressing pain was further complicated by the reluctance of some patients to express discomfort or pain and others who avoided activities that might lead to pain (Theme 3: Addressing pain in patients who do not complain).</p><p><strong>Conclusion: </strong>The study emphasises the importance of consistent pain evaluation and management, advocating for more open dialogues between clinicians and patients.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11529742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multicentre study to assess the performance of an artificial intelligence instrument to support qualitative diagnosis of colorectal polyps.","authors":"Keigo Sato, Mizuki Kuramochi, Akihiko Tsuchiya, Akihiro Yamaguchi, Yasuo Hosoda, Norio Yamaguchi, Naohiro Nakamura, Yuki Itoi, Yu Hashimoto, Kengo Kasuga, Hirohito Tanaka, Shiko Kuribayashi, Yoji Takeuchi, Toshio Uraoka","doi":"10.1136/bmjgast-2024-001553","DOIUrl":"https://doi.org/10.1136/bmjgast-2024-001553","url":null,"abstract":"<p><strong>Objective: </strong>Computer-aided diagnosis (CAD) using artificial intelligence (AI) is expected to support the characterisation of colorectal lesions, which is clinically relevant for efficient colorectal cancer prevention. We conducted this study to assess the diagnostic performance of commercially available CAD systems.</p><p><strong>Methods: </strong>This was a multicentre, prospective performance evaluation study. The endoscopist diagnosed polyps using white light imaging, followed by non-magnified blue light imaging (non-mBLI) and mBLI. AI subsequently assessed the lesions using non-mBLI (non-mAI), followed by mBLI (mAI). Eventually, endoscopists made the final diagnosis by integrating the AI diagnosis (AI+endoscopist). The primary endpoint was the accuracy of the AI diagnosis of neoplastic lesions. The diagnostic performance of each modality (sensitivity, specificity and accuracy) and confidence levels were also assessed.</p><p><strong>Results: </strong>Overall, 380 lesions from 139 patients were included in the analysis. The accuracy of non-mAI was 83%, 95% CI (79% to 87%), which was inferior to that of mBLI (89%, 95% CI (85% to 92%)) and mAI (89%, 95% CI (85% to 92%)). The accuracy (95% CI) of diagnosis by expert endoscopists using mAI (91%, 95% CI (87% to 94%)) was comparable to that of expert endoscopists using mBLI (91%, 95% CI (87% to 94%)) but better than that of non-expert endoscopists using mAI (83%, 95% CI (75% to 90%)). The level of confidence in making a correct diagnosis was increased when using magnification and AI.</p><p><strong>Conclusions: </strong>The diagnostic performance of mAI for differentiating colonic lesions is comparable to that of endoscopists, regardless of their experience. However, it can be affected by the use of magnification as well as the endoscopists' level of experience.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11499753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The LIVERAID (LIVER And Infectious Diseases)-ICU score predicts in-hospital mortality in liver cirrhosis patients with infections in the intensive care unit.","authors":"Hauke Hoppmann, Florian Zeman, Daniela Wittmann, Petra Stöckert, Sophie Schlosser-Hupf, Alexander Mehrl, Vlad Pavel, Martina Müller, Stephan Schmid","doi":"10.1136/bmjgast-2024-001482","DOIUrl":"10.1136/bmjgast-2024-001482","url":null,"abstract":"<p><strong>Objectives: </strong>The admission of patients with liver cirrhosis to the intensive care unit (ICU) due to infections is a frequent occurrence, often leading to complications such as hepatic encephalopathy, renal failure and circulatory collapse, significantly elevating mortality risks. Accurate and timely diagnosis and intervention are critical for improving therapeutic outcomes. In this context, medical scoring systems in ICUs are essential for precise diagnosis, severity assessment and appropriate therapeutic strategies. There are no specific models for the prediction of mortality in ICU patients with liver cirrhosis-associated infections. This study aims to develop an improved prognostic scoring system for predicting in-hospital mortality among liver cirrhosis patients with infections in the ICU. This scoring system is designed to enhance the predictive accuracy of in-hospital mortality complementing existing sepsis and liver-specific prognostic models.</p><p><strong>Methods: </strong>A retrospective analysis was conducted in 620 patients with liver cirrhosis, treated for infections in the ICU of a German university hospital during 2017-19. Advanced statistical techniques were employed to develop and validate the LIVERAID (LIVER And Infectious Diseases)-ICU score, a novel scoring system specifically tailored for liver cirrhosis patients in the ICU with infections. The development of the multivariable logistic regression model involved selecting variables with the highest prognostic efficacy, and its predictive performance was assessed using calibration plots and the concordance statistic (c-index) to evaluate both calibration and discrimination.</p><p><strong>Results: </strong>The LIVERAID-ICU score integrates Child-Pugh class, serum urea levels and respiratory metrics. It is designed for bedside calculation using basic clinical and laboratory data, with no need for additional tools. In the validation cohort, the LIVERAID-ICU score exhibited enhanced sensitivity and specificity (AUC=0.83) in forecasting in-hospital mortality of patients with liver cirrhosis-associated infections when compared with established scores like Sequential Organ Failure Assessment (SOFA) (p=0.045), Model for End-Stage Liver Disease (MELD) (p=0.097), Child (p<0.001) and CLIF consortium acute-on-chronic liver failure (CLIF-C ACLF) (p<0.001).</p><p><strong>Conclusion: </strong>The newly developed LIVERAID-ICU score represents a robust, streamlined and easy tool for predicting in-hospital mortality in liver cirrhosis patients with infections, surpassing the predictive capabilities of established liver or sepsis scores like SOFA, MELD, Child and CLIF-C ACLF. The reliance of the LIVERAID-ICU score on fundamental clinical and laboratory data facilitates its global application in ICUs, enabling immediate application at the bedside for patients with liver cirrhosis during episodes of suspected or confirmed infections.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11481117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adverse events after colonoscopy in a randomised colorectal cancer screening trial.","authors":"Øyvind Bakken Rognstad, Edoardo Botteri, Geir Hoff, Michael Bretthauer, Elisabeth Gulichsen, Svein Oskar Frigstad, Øyvind Holme, Kristin Ranheim Randel","doi":"10.1136/bmjgast-2024-001471","DOIUrl":"10.1136/bmjgast-2024-001471","url":null,"abstract":"<p><strong>Objective: </strong>Colonoscopy-related adverse events increase the burden of colorectal cancer (CRC) screening. This cross-sectional study evaluates adverse events during and after colonoscopy in a large, randomised CRC screening trial in Norway comparing sigmoidoscopy to immunochemical testing for faecal blood.</p><p><strong>Methods: </strong>We included all individuals who underwent colonoscopy at two screening centres between 2012 and 2020. From medical records, we retrieved data on adverse events during and within 30 days after colonoscopy and classified them according to the American Society for Gastrointestinal Endoscopy lexicon for endoscopic adverse events. Multivariable logistic regression models were fitted to identify risk factors for adverse events.</p><p><strong>Results: </strong>Of the 10 244 included individuals, 242 (2.4%) had at least one adverse event that was possibly, probably, or definitively related to the colonoscopy. 188 (1.8%) had mild adverse events, 50 (0.49%) had moderate, 3 (0.03%) had severe, and 1 had a fatal adverse event. The most frequent adverse events were lower gastrointestinal bleeding (0.86%), abdominal pain (0.48%), vasovagal reaction (0.39%), postpolypectomy syndrome (0.20%), and perforation (0.08%). 23 (0.22%) individuals had non-gastrointestinal adverse events. Risk factors associated with adverse events were older age, female sex, screening centre, anticoagulant therapy, number of polypectomies, size of lesion removed, presence of proximal lesion, and adenocarcinoma. Adverse event rates per endoscopist ranged from 0% to 4.9%.</p><p><strong>Conclusion: </strong>Adverse events after colonoscopy of screening positives occurred in about 2 out of 100 procedures. Three-quarters of events were mild. Awareness of risk factors may help endoscopists to mitigate the risk.</p><p><strong>Trial registration number: </strong>NCT01538550.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11459295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health literacy and cumulative social disadvantage are associated with survival and transplant in patients with hepatocellular carcinoma: a prospective study.","authors":"Lauren D Nephew, Susan M Rawl, Allie Carter, Nicole Garcia, Patrick O Monahan, John Holden, Marwan Ghabril, Eleazar Montalvan-Sanchez, Kavish Patidar, Archita P Desai, Eric Orman, Naga Chalasani","doi":"10.1136/bmjgast-2024-001537","DOIUrl":"10.1136/bmjgast-2024-001537","url":null,"abstract":"<p><strong>Objective: </strong>To investigate how individual social determinants of health (SDOH) and cumulative social disadvantage (CSD) affect survival and receipt of liver transplant (LT) in patients with hepatocellular carcinoma (HCC).</p><p><strong>Methods: </strong>We enrolled 139 adult patients from two Indianapolis hospital systems between June 2019 and April 2022. Structured questionnaires collected SDOH and social risk factor data. We compared SDOH and CSD by race, gender and disease aetiology, assigning one point per adverse SDOH. Multivariable competing risk survival analysis assessed associations between SDOH, CSD, survival and LT receipt.</p><p><strong>Results: </strong>Black patients experienced higher CSD than white patients in the cohort (5.4±2.5 vs 3.2±2.1, p<0.001). Black patients were significantly more likely to have household incomes <US$15 000 per year (52.6% vs 18.3%, p=0.003), to be insured by Medicaid (57.9% vs 33.0%, p=0.04), and to live in high Social Deprivation Index areas (68.4% vs 17.5%, p<0.001) than white patients. Patients with hepatitis C virus and alcohol-related liver disease had more adverse SDOH than those with metabolic dysfunction-associated steatotic liver disease, while there were no significant differences by gender. On multivariable analysis, a higher health literacy score was a significant predictor of survival (HR 2.54, 95% CI 1.19 to 5.43 CI, p=0.02) and higher CSD was associated with a lower probability of receipt of LT (HR 0.80, 95% CI 0.68 to 0.95, p=0.01).</p><p><strong>Conclusions: </strong>There are significant racial and aetiology-related differences in SDOH burden. Low health literacy and high CSD are linked to worse outcomes in HCC patients. Health literacy screening and targeted interventions for those with high CSD could improve LT access and survival rates.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11448155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex disparities in gallstone disease: insights from the MAUCO prospective population-based cohort study.","authors":"Danae Rodriguez Gatta, Laura Huidobro, Fanny Petermann-Rocha, Vanessa Van de Wyngard, Franco Godoy, Vicente Cid, Macarena Garrido, Paz Cook, Juan Carlos Roa, Claudio Vargas, Juan Carlos Araya, Sandra Cortes, Francisco Cruz, Jill Koshiol, Marco Arrese, Catterina Ferreccio","doi":"10.1136/bmjgast-2024-001457","DOIUrl":"10.1136/bmjgast-2024-001457","url":null,"abstract":"<p><strong>Objective: </strong>To investigate factors associated with the prevalence and incidence of gallstone disease (GSD) in women and men of the MAUCO population-based prospective cohort.</p><p><strong>Design: </strong>8948 MAUCO participants (aged 38-74 years) underwent abdominal ultrasound at baseline (2015-2019); 4385 received follow-up ultrasound at years 2 or 4. Factors associated with prevalent GSD were assessed using Poisson multiple regression and with incident GSD using Cox regression models.</p><p><strong>Results: </strong>GSD prevalence was 40.4% in women (13.1% gallstones, 27.3% cholecystectomies) and 17.1% in men (8.9% gallstones, 8.2% cholecystectomies). In men, GSD prevalence rate ratio (PRR) by age in >64 years was 3.85 (95% CI 3.00 to 4.94), doubling that of women's PRR 1.78 (95% CI 1.57 to 2.01). In women, waist circumference and diabetes were stronger GSD factors; a higher number of children and worse metabolic and socioeconomic conditions were also highlighted. GSD men had higher cardiovascular disease and a family history of GSD and gallbladder cancer. 198 GSD cases developed during follow-up, with incidence increasing by 2% (95% CI 1.005% to 1.03%) per each centimetre above the ideal waist circumference, statistically significant only in women. In men, age was the strongest factor for incidence, followed by a family history of GSD and low high-density lipoprotein increased incidence risk.</p><p><strong>Conclusions: </strong>GSD burden was high in this population; a third of women had their gallbladder removed, which may pose them at risk of other health problems. Abdominal obesity was the only preventable GSD risk factor, highlighting the need for effective public health policies promoting obesity reduction.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiancestry transferability of a polygenic risk score for diverticulitis.","authors":"Thomas E Ueland, Jonathan D Mosley, Christopher Neylan, John P Shelley, Jamie Robinson, Eric R Gamazon, Lillias Maguire, Richard Peek, Alexander T Hawkins","doi":"10.1136/bmjgast-2024-001474","DOIUrl":"10.1136/bmjgast-2024-001474","url":null,"abstract":"<p><strong>Objective: </strong>Polygenic risk scores (PRS) for diverticular disease must be evaluated in diverse cohorts. We sought to explore shared genetic predisposition across the phenome and to assess risk stratification in individuals genetically similar to European, African and Admixed-American reference samples.</p><p><strong>Methods: </strong>A 44-variant PRS was applied to the <i>All of Us</i> Research Program. Phenome-wide association studies (PheWAS) identified conditions linked with heightened genetic susceptibility to diverticular disease. To evaluate the PRS in risk stratification, logistic regression models for symptomatic and for severe diverticulitis were compared with base models with covariates of age, sex, body mass index, smoking and principal components. Performance was assessed using area under the receiver operating characteristic curves (AUROC) and Nagelkerke's R².</p><p><strong>Results: </strong>The cohort comprised 181 719 individuals for PheWAS and 50 037 for risk modelling. PheWAS identified associations with diverticular disease, connective tissue disease and hernias. Across ancestry groups, one SD PRS increase was consistently associated with greater odds of severe (range of ORs (95% CI) 1.60 (1.27 to 2.02) to 1.86 (1.42 to 2.42)) and of symptomatic diverticulitis ((95% CI) 1.27 (1.10 to 1.46) to 1.66 (1.55 to 1.79)) relative to controls. European models achieved the highest AUROC and Nagelkerke's R² (AUROC (95% CI) 0.78 (0.75 to 0.81); R² 0.25). The PRS provided a maximum R² increase of 0.034 and modest AUROC improvement.</p><p><strong>Conclusion: </strong>Associations between a diverticular disease PRS and severe presentations persisted in diverse cohorts when controlling for known risk factors. Relative improvements in model performance were observed, but absolute change magnitudes were modest.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Home-based EXercise and motivAtional programme before and after Liver Transplantation (EXALT): study protocol for phase II two-centre, randomised controlled trial.","authors":"","doi":"10.1136/bmjgast-2024-001410","DOIUrl":"10.1136/bmjgast-2024-001410","url":null,"abstract":"<p><strong>Introduction: </strong>Physical frailty is associated with increased mortality and poor quality of life (QoL) before and after liver transplantation (LT). Evidence is lacking on how to tailor exercise and behavioural techniques in this patient population.</p><p><strong>Methods and analysis: </strong>Home-based EXercise and motivAtional programme before and after Liver Transplantation (EXALT) is a phase 2b, open-label, two-centre randomised controlled clinical trial designed to investigate whether a remotely monitored 'home-based exercise and theory-based motivation support programme (HBEP)' before and after LT improves QoL in LT recipients. Adult patients awaiting a primary LT will be assessed for eligibility at two LT centres (Birmingham, Royal Free London). Participants will be randomly assigned (1:1) to receive either an HBEP while on the LT waiting list through to 24 weeks after LT (Intervention) or a patient exercise advice leaflet (Control). Using a standard method of difference in means (two-sided significance level 0.05; power 0.90) and accounting for a 35% attrition/withdrawal rate, a minimum of 133 patients will be randomised to each treatment group. The primary outcome measure will be assessed using intention-to-treat analysis of the difference in the Physical Component Score of Short form-36 version 2.0 health-related QoL questionnaire between the groups at 24 weeks post-LT.</p><p><strong>Ethics and dissemination: </strong>The protocol was approved by the South Central-Hampshire A National Research Ethics Committee. Recruitment into the EXALT trial started in May 2022 and is due to end in June 2024, with 217/266 patients randomised to date. The intervention follow-up is due to finish in May 2026. The findings of this trial will be disseminated through peer-reviewed publications, conferences and social media.</p><p><strong>Trial registration number: </strong>ISRCTN13476586.</p>","PeriodicalId":9235,"journal":{"name":"BMJ Open Gastroenterology","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142131891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}