Digestive and Liver Disease最新文献

Background: Gastroesophageal reflux disease (GERD) is a prevalent gastrointestinal disorder with multifactorial etiology, including genetic components. Despite numerous genetic association studies (GAS), the role of specific gene polymorphisms in GERD susceptibility remains unclear due to inconsistent findings.

Aims: To systematically review GAS on GERD and conduct a meta-analysis to evaluate the association between specific gene polymorphisms and GERD risk.

Methods: A systematic review of PubMed, Cochrane, ScienceDirect, Scopus, DisGENET, GWASCatalog, and HuGE Phenopedia databases (2012-2024) was conducted to identify GAS for GERD. Meta-analytical methods were used to synthesize the results.

Results: 21 GAS, including 27,783 GERD patients and 83,857 controls, were analyzed, focusing on 132 polymorphisms across 105 genes. Meta-analysis of seven studies revealed a significant association between GNB3 rs5443 C > T and increased GERD-like symptom phenotypes (ORp = 2.24, 95 % CI: 1.56-3.21), suggesting a dominant genetic model. No significant associations were found for TNF, IL1B, or CYP2C19. Heterogeneity and potential bias were observed in some analyses, necessitating cautious interpretation of the findings.

Conclusion: The findings support a robust association between GNB3 rs5443 C > T and susceptibility to GERD-like symptom phenotypes, suggesting a potential genetic predisposition. Additional large, well-characterized studies using standardized GERD definitions are needed to validate these results and elucidate the broader genetic landscape of the disease.

Background and aims: Living donor liver transplantation (LDLT) helps address organ shortages but remains complex, particularly in Western countries where deceased donor liver transplantation (DDLT) is preferred. This study evaluates improvements in LDLT outcomes over time for both donors and recipients.

Study design: A single-center retrospective analysis from 2001-2023 including two periods: P-ONE (2001-2003, 36 cases) and P-TWO (2020-2023, 27 cases). Donor surgery after October 2022 marked the shift to a full robotic approach. Recipient procedures preserved the retro-hepatic vena cava, with standard vascular and biliary reconstruction. Comparisons include demographics, complications, and survival.

Results: P-ONE donors were younger (median age 32 vs. 46, P=0.003), while P-TWO recipients were older (63 vs. 56 years, P=0.005) with more comorbidities. P-TWO had more cases of hepatocellular carcinoma and low-MELD cirrhosis. Donor safety improved in P-TWO, with similar major complication rates (14% vs. 11%). Recipients in P-TWO had fewer severe complications (7% vs. 81%, P<0.001) and better 3-year graft survival.

Conclusions: Advances in patient selection, minimally invasive surgery, and perioperative care have significantly improved LDLT outcomes. Despite persistent biliary challenges, LDLT remains a promising solution for end-stage liver disease and liver cancer.

Background: Potential coeliac disease is an increasingly diagnosed condition, and the dilemma whether start a gluten-free diet is still unsolved.

Aims: We hypothesized that an exaggerated enterocyte turnover is responsible for an impairment of gut function leading to the development of symptoms and/or progression to villous atrophy.

Methods: The proliferation and apoptotic rates of duodenal enterocytes, assessed by anti-Ki-67 and -Caspase-3 antibodies at immunohistochemistry, of 36 adult patients with potential coeliac disease were compared to those found in a group of 32 active coeliac patients and a group of 31 controls. Statistics was computed by Fisher's exact test, Wilcoxon-Mann-Whitney rank-sum test, and Kruskal-Wallis test as appropriate, post-hoc analysis was performed by Dunn's test with Bonferroni correction.

Results: Nearly all patients with potential coeliac disease reported symptoms (31/36 = 86.1 %), and four out 36 developed active disease over time. A significant increase of enterocyte proliferation (p = 0.042), but not of apoptosis (p = 0.514), in comparison with control subjects was found. Notably, a significant correlation between Ki-67 expression and the progression to villous atrophy (p = 0.015) was evident.

Conclusions: The maintenance of mucosal architecture in potential coeliac disease is due to enterocyte hyper-proliferation that causes the presence of immature cells on the villous lining and correlates with the development of villous atrophy.