American Journal of Gastroenterology最新文献

Gastrointestinal (GI) cancers, particularly those of the stomach and colorectum, are among the leading causes of cancer-related morbidity and mortality in the U.S. and worldwide. The adenomatous polyposis coli (APC) gene functions as a tumor suppressor gene whose loss of function plays a critical role in GI cancer development. Pathogenic/likely pathogenic variants of the APC gene are associated with intestinal (gastric, small bowel, and colorectal neoplasia) and extra-intestinal manifestations. In this narrative review, we discuss the epidemiology, diagnosis, and management of APC gene related polyposis syndromes. We also review the variation in genotype-phenotype presentations and discuss practical aspects of caring for individuals affected by these syndromes with an emphasis on multidisciplinary care, family planning, and transitions of care.

Introduction: To use a large language model (LLM) to create accurate and useable summaries of patient records for clinicians triaging new hepatology referrals.

Methods: We developed a comprehensive list of data elements required to triage a new hepatology referral and engaged in an iterative prompt engineering process to instruct an LLM to extract relevant data from patient referral documents. The final prompt was used on 50 original patient records from June to July 2025 to generate corresponding artificial intelligence (AI) summaries, which were assigned to 2 providers to review and triage according to their usual process. We assessed time to triage original vs AI files and accuracy of the AI files. A linear mixed-effects model was used to determine an adjusted time ratio comparing the time to triage AI files vs original files.

Results: AI-generated summaries were significantly shorter than original files (median [interquartile range] 2 [2-3] vs 23 [10.2-38.8] pages, P < 0.001). AI summaries had high accuracy (median [interquartile range]: 94.6% [86.5%-97.3%]) with a low hallucination rate. Use of the AI summaries led to a 60% reduction in triage time (adjusted mean triage time of 37.2 seconds for AI files vs 94.2 seconds for original files, P < 0.001).

Discussion: The use of an LLM led to significantly reduced document length, maintained an appropriate level of accuracy, and led to a significant decrease in clinician time to review the patient record. Future steps involve creating a fully automated workflow that is integrated into the electronic health record for widespread use.

Article Title: Global Consensus Statement on the Management of Pregnancy in Inflammatory Bowel Disease.

Introduction: Current guidelines recommend endoscopic surveillance of Barrett's esophagus (BE) but do not account for competing mortality unrelated to esophageal cancer (EC). We conducted a systematic review and meta-analysis to estimate EC and non-EC mortality risk in BE patients.

Methods: We searched multiple databases for studies reporting mortality in BE. We included population-based studies providing standardized mortality ratio (SMR). The primary outcome was SMR from all causes and EC and non-EC etiologies. SMR was calculated by dividing the observed mortality over the expected mortality. Logarithmic form of SMRs was pooled using random-effects model.

Results: Our search yielded 2,826 articles, of which 7 studies (n = 34,454) were included. All-cause mortality was elevated in BE patients compared with population controls (pooled SMR 1.24, 95% confident interval [CI] 1.01-1.53) driven in part by increased EC mortality risk (SMR 8.98, 95 CI 5.12-15.77). The mortality risk was still increased but attenuated after excluding EC mortality (SMR 1.21, 95% CI 1-1.46). There was no increased mortality risk of non-EC malignancies (SMR 1.22, 95% CI 0.82-1.82) or mortality due to noncancer etiologies (SMR 1.13, 95% CI 0.90-1.43). Death due to cardiovascular diseases was higher in BE (SMR 1.16, 95% CI 1.02-1.33). BE patients were 10 times more likely to die from noncancer etiologies than EC (risk ratio 10.71, 95% CI 5.98-19.16). Subgroup analysis of studies that excluded prevalent EC at baseline (3 studies) also showed increased all-cause (SMR 1.12, 95% CI 1.07-1.18) and EC mortality (SMR 4.7, 95% CI 3.58-6.17) among BE patients.

Discussion: BE patients exhibit a higher all-cause mortality, driven in part by risk of EC mortality. A personalized approach to surveillance, mitigating risk of EC while recognizing the broader mortality risks, is warranted.

Introduction: A subcutaneous formulation of infliximab was recently approved for maintenance therapy of inflammatory bowel disease (IBD). However, limited clinical experience, particularly with patients on escalated intravenous infliximab regimens, poses challenges for the transition to subcutaneous therapy. We investigated the pharmacokinetics and pharmacodynamics of subcutaneous infliximab to identify early predictors of relapse on switching.

Methods: We repurposed data from a prospective, multicenter trial involving patients with IBD switching from intravenous to subcutaneous infliximab. We estimated each patient's infliximab clearance using Bayesian forecasting from a preswitch sample and a population pharmacokinetics model. We performed pharmacodynamics modeling to evaluate preswitch predictors of postswitch relapse. Relapse was defined as clinical recurrence (partial Mayo score >2 or Harvey-Bradshaw Index >4 leading to therapeutic escalation) or an increase in fecal calprotectin ≥150 μg/g on switching.

Results: Using data from 98 patients with IBD, we identified infliximab clearance and fecal calprotectin as independent predictors of relapse. A 2-item risk score stratified patients into the low-risk (<19% probability of relapse; 75/98; 77%) and high-risk (≥19% probability of relapse; 23/98; 23%) groups (sensitivity 0.75 [95% CI 0.48-0.93], specificity 0.87 [95% CI 0.77-0.93] positive predictive value 52% [95% CI 31-73%], negative predictive value 95% [95% CI 87-99%]). Our pharmacokinetics-pharmacodynamics model classified patients with and without relapse ( P < 0.0001) with an area under the receiver operating characteristic curve of 0.83 (95% CI 0.71-0.93).

Discussion: Preswitch infliximab clearance and fecal calprotectin are accurate predictors of relapse after switching to subcutaneous infliximab. An interactive risk stratification tool facilitates confirmation of a stratified medicine approach to improve infliximab therapy in IBD.

Introduction: Postcolonoscopy colorectal cancers (PCCRCs) are an adverse outcome associated with missed lesions and incomplete polypectomy. However, their molecular features have not been systematically reviewed.

Methods: We searched PubMed, Embase, and Cochrane Library databases from inception to April 2024. Studies examining the molecular characteristics of PCCRCs, including microsatellite instability (MSI), CpG island methylation phenotype (CIMP), genetic mutations, and chromosomal alterations were regarded as eligible.

Results: In total, 15 studies encompassing 11 cohorts, with 2,143 PCCRC and 19,036 sporadic colorectal cancer (SCRC) cases, were analyzed. Compared with SCRC, PCCRC was associated with older age (standardized mean difference 0.29, 95% confidence interval [CI] 0.20-0.38) and more proximal lesions (odds ratio [OR] 2.08, 95% CI 1.91-3.63). Molecularly, PCCRCs were more likely to exhibit MSI (OR 2.28, 95% CI 1.69-3.08), CIMP (OR 2.10, 95% CI 1.39-3.18), and BRAF mutations (OR 1.74, 95% CI 1.22-2.49) but were less likely to exhibit KRAS mutations (OR 0.63, 95% CI 0.45-0.87). Furthermore, MSI was strongly correlated with BRAF mutation (OR 9.36, 95% CI 5.11-17.16) and proximal lesions (OR 6.16, 95% CI 3.74-10.16) in a pooled analysis. Although the pooled 5-year overall survival rate was similar between PCCRC and SCRC cases (hazard ratio 1.03, 95% CI 0.64-1.66), PCCRCs exhibited worse survival compared with screening-detected ones (hazard ratio 1.65, 95% CI 1.46-1.86).

Discussion: Clinical and molecular features indicate that PCCRCs are more likely to be associated with the serrated pathway than with SCRC. Enhancing the detection of clinically significant serrated lesions may improve the efficacy of CRC screening.

Introduction: Upper endoscopy (EGD) is generally recommended in those with chronic gastroesophageal reflux disease (GERD). To evaluate nonendoscopic screening in those without GERD symptoms.

Methods: EsoCheck/Esoguard (LucidDx) was performed in recruited patients without chronic GERD who had ≥3 other BE risk factors.

Results: The EsoGuard assay was positive in 34 of 120 patients. BE was identified in 9 of 27 who had follow-up EGD, positive predictive value = 33% (17%-54%). EGD performed in 22 of 86 subjects with negative assays found no BE, negative predictive value = 100% (85%-100%).

Discussion: Nonendoscopic BE detection is effective in patients without chronic GERD.