Clinical Gastroenterology and Hepatology最新文献

Hemochromatosis is not a new disease and genetic variants for hemochromatosis have been identified in human fossils that are over 4,000 years old in North Western Europe¹. These variants were postulated to promote iron absorption as a survival benefit. In contrast, excess iron absorption can lead to serious complications, including arthritis, liver fibrosis, cirrhosis, primary liver cancer, and diabetes. In this review, the emphasis is on recent developments in the diagnosis and treatment of hemochromatosis, focusing on those homozygous for the C282Y variant in the HFE gene. In this condition, there is a clear need for earlier diagnosis leading to earlier treatment to prevent morbidity and mortality from iron overload.

Background and aims: Retrograde cricopharyngeal dysfunction (R-CPD) or inability to belch has been linked to ineffective relaxation of the upper esophageal sphincter (UES) during gastroesophageal gas reflux, and botulinum toxin (BT) injection into the UES has demonstrated success in case series. However, the diagnosis is often overlooked. High resolution impedance manometry (HRiM) with belch provocation was recently suggested as diagnostic tool. Our aim was to confirm manometric findings in patients with R-CPD before and after BT treatment, and to compare with control patients and healthy volunteers.

Methods: Retrospective analysis of HRiM with belch provocation performed between May 2021 and April 2024. Gas reflux episodes were counted and analyzed for UES relaxation, air clearance, air entrapment or oscillatory movements of air in the esophagus, amongst others.

Results: Fifty-five patients with symptoms suggestive of R-CPD, 30 control patients and 15 healthy volunteers were included (n=100). Twenty-nine patients had a repeat measurement after treatment with BT (n=29). Median esophageal contractility was lower in R-CPD versus control patients and healthy volunteers (DCI: 146, 577 and 316mmHg.cm.s, p_adj = 0.0109). During belching, we saw higher UES pressures in R-CPD patients vs. controls, leading to incomplete air clearance and air oscillating in the esophagus (p<0.0001). After BT injection, median UES pressures during belching decreased (56 vs 3mmHg) andair clearance improved (p<0.0001). A maximum UES pressure during belching >31mmHg adequately discriminated patients from controls.

Conclusion: Rapid drinking challenge with sparkling water can serve as belch provocation test during HRiM, with higher UES pressures during gas reflux and oscillations discriminating R-CPD patients from controls.

Background & aims: We aimed to develop and validate an artificial intelligence score (gender-equity model for liver allocation using artificial intelligence [GEMA-AI]) to predict liver transplant (LT) waiting list outcomes using the same input variables contained in existing models.

Methods: This was a cohort study including adult LT candidates enlisted in the United Kingdom (2010-2020) for model training and internal validation and in Australia (1998-2020) for external validation. GEMA-AI combined international normalized ratio, bilirubin, sodium, and the Royal Free Hospital glomerular filtration rate in an explainable artificial neural network. GEMA-AI was compared with gender-equity model for liver allocation corrected by serum sodium (GEMA-Na), Model for End-Stage Liver Disease 3.0, and Model for End-Stage Liver Disease corrected by serum sodium for waiting list prioritization.

Results: The study included 9320 patients: 5762 in the training cohort, 1920 in the internal validation cohort, and 1638 in the external validation cohort. The prevalence of 90-day mortality or delisting for sickness ranged from 5.3% to 6% across different cohorts. GEMA-AI showed better discrimination than GEMA-Na, Model for End-Stage Liver Disease corrected by serum sodium, and Model for End-Stage Liver Disease 3.0 in the internal and external validation cohorts, with a more pronounced benefit in women and in patients showing at least 1 extreme analytical value. Accounting for identical input variables, the transition from a linear to a nonlinear score (from GEMA-Na to GEMA-AI) resulted in a differential prioritization of 6.4% of patients within the first 90 days and would potentially save 1 in 59 deaths overall, and 1 in 13 deaths among women. Results did not substantially change when ascites was not included in the models.

Conclusions: The use of explainable machine learning models may be preferred over conventional regression-based models for waiting list prioritization in LT. GEMA-AI made more accurate predictions of waiting list outcomes, particularly for the sickest patients.

Hepatocellular carcinoma (HCC) is a major concern for public health. Fatty liver disease, related to alcohol misuse or metabolic syndrome, has become the leading cause of chronic liver disease and HCC. The strong association between type 2 diabetes mellitus and HCC can be partly attributed to the development of metabolic dysfunction-associated steatotic liver disease (MASLD). There is a strong interest in strategies that may mitigate HCC risk and reduce HCC incidence in this growing population of at-risk individuals. In this review, we describe the pathogenesis of HCC in patients with MASLD and discuss potential emerging pharmacological and lifestyle interventions for MASLD-related HCC. HCC risk has been observed to be lower with healthy lifestyle behaviors, such as healthy dietary patterns (eg, high consumption of vegetables, whole grains, fish and poultry, yogurt, and olive oil, and low consumption of red and processed meats and dietary sugar) and increased physical activity. Selecting an appropriate pharmacologic approach for individuals with MASLD may also decrease the occurrence of HCC. Metformin, PPAR activators, sodium-glucose cotransporter 2 inhibitors, dipeptidyl peptidase-4 inhibitors, glucagon-like peptide-1 receptor agonists, aspirin, and statins have all shown promise to reduce the risk of HCC, although guidelines do not recommend their use for the sole purpose of chemoprevention at this time, given a dearth of data defining their risk-benefit ratio.

Point-of-care ultrasound (POCUS) is changing the practice of nearly all specialties and is increasingly being incorporated as a bedside tool by more gastroenterologists and hepatologists. POCUS is most often used to answer focused clinical questions, supplement the traditional physical examination, and guide performance of invasive bedside procedures. This review describes several common POCUS applications used in gastroenterology and hepatology, as well as some novel applications that warrant further investigation.