Clinics and research in hepatology and gastroenterology最新文献

Aim: Hepatocellular carcinoma (HCC) remains a leading cause of cancer-related death, particularly in China, with limited diagnosic sensitivity and specificity. Circulating cell-free DNA (cfDNA) has emerged as a promising non-invasive biomarker. Eukaryotic Translation Initiation Factor 2C1 (EIF2C1), commonly used as a reference gene in digital PCR, reflects total cfDNA burden. This study aimed to evaluate the diagnostic value of plasma EIF2C1-normalized cfDNA levels for HCC detection and to explore its association with disease severity and metastatic features at diagnosis.

Methods: Plasma samples from 101 HCC patients and 90 healthy controls were analyzed using Real-Time Quantitative PCR (RT-qPCR) to quantify EIF2C1 levels, employing two sets of primers and probes (EIF2C1-1 and EIF2C1-2). Clinical data and tumor markers were collected to evaluate the association of EIF2C1 levels with disease severity and metastatic risk.

Results: EIF2C1 levels were significantly elevated in HCC patients and correlated inversely with hepatic synthetic markers ,while positively associating with tumor progression indicators. Higher EIF2C1 expression was linked to advanced stage, cirrhosis, liver dysfunction, and metastasis. The combined models of EIF2C1 and alpha-fetoprotein (AFP) demonstrated enhanced discriminatory ability compared with individual markers (EIF2C1-1 + AFP: AUC=0.744, 95% CI: 0.642-0.845; EIF2C1-2 + AFP: AUC=0.764, 95% CI: 0.662-0.866). Furthermore, elevated EIF2C1 levels were significantly associated with the presence of metastasis (OR=20.87, 95% CI: 5.13-84.92).

Conclusion: Plasma EIF2C1 levels show promise as a complementary diagnostic and risk-stratification biomarker in HCC. Its combination with AFP improves the identification of metastatic disease at diagnosis, potentially aiding initial clinical management.

Background: Helicobacter pylori (H. pylori) infection is highly comorbid with dyslipidemia. This study investigated their association using longitudinal trajectory analysis and Mendelian randomization (MR).

Methods: 2433 individuals undergoing annual health examinations (2018-2021) were enrolled. Group trajectory modeling categorized subjects based on C14 breath test results into normal group, slow infection group and persistent infection group. Dyslipidemia incidence was tracked from 2022-2023. Log-rank tests compared incidence, and logistic regression calculated odds ratios (OR) with 95% confidence intervals (CI). Two-sample MR used H. pylori antibody GWAS data and UK Biobank dyslipidemia GWAS. Inverse Variance Weighted (IVW) was the primary method, supplemented by sensitivity analyses.

Results: Three trajectories were identified. The incidence of dyslipidemia in slow infection group(23.2%) and persistent infection group (27.5%) was significantly higher than that in normal group (15.4%; P<0.05). After adjustment, compared with the normal group, the risk of dyslipidemia in the slow infection group and the persistent infection group increased by 0.759 times (95%CI: 0.541-1.066, P=0.012) and 1.752 times (95%CI: 1.169-2.625, P= 0.007) . MR analysis (IVW) showed H. pylori GroEL antibody levels significantly correlated with total cholesterol and HDL levels, and VacA antibody levels correlated with triglycerides (P < 0.05). Sensitivity analyses confirmed no heterogeneity or horizontal pleiotropy.

Conclusions: Both longitudinal and MR analyses consistently demonstrate a significant association between persistent H. pylori infection and increased dyslipidemia risk. Further research into the underlying mechanisms is warranted to understand H. pylori's extragastric effects.

Background: Data on the efficacy of haemostatic radiotherapy (RT) in patients with inoperable gastric cancer bleeding are lacking.

Aims: To assess the efficacy of haemostatic RT, identify factors predictive of a response and analyse patient outcomes in this setting.

Methods: We retrospectively evaluated the efficacy and safety of haemostatic RT in patients with bleeding related to inoperable gastric cancer. A response was defined as no recurrence of external bleeding and no requirement for new blood transfusion after RT. Post-RT survival (PRTS) was defined as the time from the last day of RT to death, and event-free survival (EFS) was defined as the time from the last day of RT to rebleeding, transfusion requirement or death.

Results: Thirty-five patients were included, among whom 17 (48.6%) were responders. The mean number of packed red blood cells transfused per patient decreased significantly in the 3 months following RT in both responders (p < 0.0001) and nonresponders (p < 0.0001). The median PRTS and EFS were significantly greater in responders than in nonresponders (p < 0.0001 and p < 0.0001, respectively). No patient died because of tumour bleeding in the responder group versus 3 in the nonresponder group (p = 0.23).

Conclusion: Palliative RT for inoperable advanced gastric cancer bleeding is safe, improves patient outcomes and reduces the need for packed red blood cell transfusion.

Protoporphyrias are rare genetic disorders in heme biosynthesis, causing protoporphyrin IX accumulation with progressive liver injury. Liver transplantation has traditionally treated protoporphyria-induced liver injury but does not correct the underlying hematopoietic defect. We present a 16-year-old male with painful cutaneous photosensitivity who developed cholestatic liver dysfunction and severe abdominal pain. After plasmapheresis, red blood cell (RBC) transfusions, and intravenous hemin, he had transient improvement and subsequently underwent hematopoietic stem cell transplantation (HSCT) without liver transplantation, which normalized his protoporphyrin levels, liver function, and symptoms. This case underscores HSCT as a disease-modifying therapy that may prevent liver transplantation when performed before irreversible hepatic damage.

We report a case of macular cysts in a young patient carrying TJP2 deletion. She also presented neurosurgical history due to posterior malformative syndrome. This case could lead to systematic ophthalmic examination for patients presenting Progressive Familial Intrahepatic Cholestasis type 4.