ObjectiveTo investigate the feasibility and safety of endoscopic retrograde cholangiopancreatography （ERCP） combined with oral cholangiopancreatography in the treatment of major duodenal papilla gallbladder polyps. MethodsA retrospective analysis was performed for the clinical data of eight patients with choledocholithiasis and gallbladder polyps who underwent ERCP and combined with oral cholangiopancreatography for major duodenal papilla cholecystectomy in Center of Digestive Endoscopy， Jilin People’s Hospital， from May 2022 to June 2024， and related data were collected， including the success rate of surgery， the technical success rate of gallbladder polyp removal， the superselective method of cystic duct， the time of operation， the time of gallbladder polyp removal， and surgical complications. ResultsBoth the success rate of surgery and the technical success rate of gallbladder polyp removal reached 100%， and of all eight patients， three patients used guide wire to enter the gallbladder under direct view， while five patients received oral cholangiopancreatography to directly enter the gallbladder. The time of operation was 51.88±12.34 minutes， and the time of gallbladder polyp removal was 23.13±10.94 minutes. The diameter of gallbladder polyp was 2‍ ‍—‍ ‍8 mm， and pathological examination showed inflammatory polyps in three patients， adenomatous polyps in one patient， and cholesterol polyps in four patients. There were no complications during or after surgery. The patients were followed up for 2‍ ‍—‍ ‍27 months after surgery， and no recurrence of gallbladder polyp was observed. ConclusionOral cholangiopancreatography is technically safe and feasible in endoscopic major duodenal papilla cholecystectomy.

Objective:To exploring the effect of selenium on tumor necrosis factor-α (TNF-α) induced inflammatory injury of AC16 cardiomyocytes.Methods:AC16 cardiomyocytes cultured in vitro were divided into control group, selenium pretreatment group (100 μg/L sodium selenite pretreatment for 4 h), 50 μg/L TNF-α group, selenium pretreatment + 50 μg/L TNF-α group, 100 μg/L TNF-α group, and selenium pretreatment + 100 μg/L TNF-α group. After 24 h of culture, the cell culture medium or cells were collected for detection. Griess method was used to detect nitric oxide (NO) level in cell culture medium. Hoechst 33342 nuclear staining was detected by fluorescence inverted microscope and karyopyknosis ratio was analyzed. The mRNA expression levels of B-cell lymphoma-2 (Bcl-2), B-cell lymphoma-2 associated X protein (Bax) and inducible nitric oxide synthase (iNOS) were detected by real-time fluorescence quantitative PCR. The protein expression levels of nuclear factor-kappa B (NF-κB) p65 and inhibitory κB-α (IκB-α) were detected by Western blotting. Results:The levels of NO in the control group, selenium pretreatment group, 50 μg/L TNF-α group, selenium pretreatment + 50 μg/L TNF-α group, 100 μg/L TNF-α group and selenium pretreatment + 100 μg/L TNF-α group were (10.58 ± 2.32), (9.07 ± 0.73), (15.53 ± 3.97), (12.05 ± 1.11), (30.65 ± 4.16) and (19.02 ± 3.72) μmol/L, respectively. Selenium and TNF-α had main effects on NO level ( F = 37.71, 99.07, P < 0.001) and interaction effect ( F = 11.80, P < 0.001). Selenium and TNF-α had main effects on karyopyknosis ratio and Bcl-2 and Bax mRNA expression levels ( F = 56.37, 462.81, 18.04, 32.85, 18.38, 170.77, P < 0.05). Selenium and TNF-α had an interactive effect on both karyopyknosis ratio and Bax mRNA expression level ( F = 21.48, 19.96, P < 0.001). Selenium and TNF-α had main effects on iNOS mRNA expression level ( F = 129.98, 1 051.76, P < 0.001) and interaction effect ( F = 53.28, P < 0.001). Selenium and TNF-α had main effects on the protein expression levels of NF-κB p65 and IκB-α ( F = 73.65, 145.49, 710.20, 105.66, P < 0.001) and interaction effects ( F = 26.73, 197.59, P < 0.001). Conclusion:Selenium may inhibits iNOS expression through NF-κB signal system and protects cardiomyocytes from TNF-α induced inflammatory injury.

Animals ; Macaca mulatta ; Optic Disk ; Glaucoma ; Craniocerebral Trauma ; Intraocular Pressure ; Low Tension Glaucoma

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote

Objective:To investigate the relationship between single nucleotide polymorphisms of transforming growth factor-β2 (TGFβ2) gene and Keshan disease (KD) in Han population of Shaanxi Province.Methods:KD region in Huangling County, Yan'an City, Shaanxi Province was selected as the investigation site in this study. Using the method of cluster random sampling, 52 families with KD in 6 administrative villages in Huangling County (Duanjiawan Village, Taoqu Village, Yaoping Village, Jianzhuang Village, Anjiao Village in Yaoping Town, and Houziping Village in Diantou Town) were selected for epidemiological investigation. According to the "Diagnosis of Keshan Disease" (WS/T 210-2011), 285 subjects were identified, including 79 patients with KD (case group) and 206 healthy controls (control group). Genomic DNA was extracted from the peripheral venous blood. The polymorphism of genetic variation of TGFβ2 gene rs6658835 was genotyped by matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF). Chi-square (χ 2) test and t-test were used to analyze the baseline data, and binary logistic regression model was used to analyze the influencing factors of KD, all samples were tested for Hardy-Weinberg equilibrium using goodness-of-fit χ 2 test, differences in genotype and allele frequencies between case and control groups were compared by χ 2 test, and logistic regression analysis was used to compare the genotype frequencies between two groups after adjusting for confounding factors. Results:Epidemiological investigation showed that there were significant differences in age and heart murmur between case group and control group ( t = 7.03, χ 2 = 9.66, P < 0.05). The analysis of binary logistic regression model showed that the influence of age on KD was statistically significant (χ 2 = 20.72, P < 0.001). The gene frequency distribution of TGFβ2 gene rs6658835 in case group and control group conformed to the Hardy-Weinberg equilibrium (χ 2 = 0.02, P = 0.900). Correlation analysis results: the difference of genotype frequency of TGFβ2 gene rs6658835 in case group (GG, GA, AA: 6.3%, 38.0%, 55.7%) and control group (GG, GA, AA: 10.7%, 43.7%, 45.6%) was not statistically significant (χ 2 = 2.78, P = 0.249). After adjustment by age, the difference of genotype frequency and dominant model of TGFβ2 gene rs6658835 in case group and control group was statistically significant (χ 2adj = 5.43, 4.86, P < 0.05), the difference of recessive model of TGFβ2 gene rs6658835 in case group and control group was not statistically significant (χ 2adj = 2.12, P = 0.145). Conclusion:TGFβ2 gene rs6658835 is associated with KD in Han population of Shaanxi Province.

Objective:To investigate the expression of programmed death ligand 1 (PD-L1) in rectal cancer tissues and the correlation of PD-L1 expression with clinicopathological characteristics and overall survival of patients.Methods:The clinical data of 200 newly treated rectal cancer patients in Shanxi Provincial Cancer Hospital from January 2014 to December 2015 were retrospectively analyzed. The expression of PD-L1 in rectal cancer tissues was detected by immunohistochemistry. The correlations of PD-L1 expression with gender, age, tumor T stage, lymph node metastasis, tumor differentiation, histological type, tumor TNM stage, neutrophil-to-lymphocyte ratio (NLR) and overall survival of patients were analyzed.Results:The positive expression rate of PD-L1 was 24% (48/200). The positive expression rate of PD-L1 was high in patients with lymph node metastasis and high NLR (≥ 3.5) (both P < 0.05). The 5-year overall survival rate in PD-L1-positive group was 42%, and the PD-L1-negative group was 59%, and the difference between the two groups was statistically significant ( P < 0.05). The results of multivariate analysis showed that lymph node metastasis ( HR = 3.456, 95% CI 2.148-5.556, P < 0.01), NLR ≥ 3.5 ( HR = 1.871, 95% CI 1.169-2.996, P = 0.009), and PD-L1-positive expression ( HR = 2.187, 95% CI 1.373-3.484, P = 0.001) were independent adverse influencing factors for the overall survival of rectal cancer patients. Conclusion:PD-L1 is highly expressed in rectal cancer tissues, and the positive expression of PD-L1 is associated with poor overall survival of patients.

[Abstract] Objective: To investigate the expression of chemokine-like factor-like MARVEL transmembrane domain-containing family member 6 (CMTM6) in breast cancer tissues and its correlation with clinicopathological features and prognosis of patients. Methods:Atotal of 136 breast cancer tissue chips (purchased from Superchip Company), including 42 pairs of matched cancer and paracancerous tissues, were used for this study. The expression level of CMTM6 in cancer and paracancerous tissues was detected by immunohistochemistry. The comparison of CMTM6 expression between breast cancer and paracancerous tissues was conducted by paired χ2 test. The relationship between CMTM6 expression in breast cancer tissues and the clinicopathological characteristics of patients was analyzed by χ2 test. Kaplan-Meier and Log rank test analyses were used to analyze the relationship between CMTM6 expression and the survival of patients, and Cox model was used to evaluate the effect of different indicators on the prognosis of patients. Results: The expression of CMTM6 in breast cancer tissues was significantly higher than that in paracancerous tissues (P<0.01). The expression of CMTM6 was correlated with pathological type of breast cancer and HER2 positivity (P<0.05). The survival time of patients in CMTM6 high expression group was significantly shorter than that of patients in CMTM6 low expression group (P<0.05). Pathological type (HR=10.374, 95%CI: 3.529-30.497, P<0.01), TNM stage (HR=4.599, 95%CI: 1.784-11.856, P<0.01), triple-negative breast cancer (HR=3.370, 95%CI: 1.055-10.761, P<0.05) and high expression of CMTM6 (HR=0.195, 95%CI: 0.073-0.518, P<0.01) were independent risk factors for prognosis of breast cancer patients. Conclusion: CMTM6 is highly expressed in breast cancer tissues, which can be used as a risk factor for prognosis evaluation of breast cancer patients.

Background: and Purpose Previous studies suggested increased visit-to-visit variability of total cholesterol (TC) is associated with stroke. This study aimed to investigate the associations of various lipids measurements variability and the risk of stroke and stroke type (ischemic and hemorrhagic stroke). Methods: Fifty-one thousand six hundred twenty participants in the Kailuan Study without history of myocardial infarction, stroke, and cancer who underwent three health examinations during 2006 to 2010 were followed for incident stroke. Variability in TC, triglycerides, high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) measurements were measured using the coefficient of variation (CV), standard deviation (SD), variability independent of the mean (VIM), and average real variability (ARV). Results: During a median of 6.04 years of follow-up, 1,189 incident stroke (1,036 ischemic and 160 hemorrhagic stroke) occurred. In the multivariable-adjusted model, the hazard ratio (HR) comparing participants in the highest versus lowest quartile of CV of HDL-C were 1.21 (95% confidence interval [CI], 1.02 to 1.45; P for trend=0.013) for ischemic stroke. The highest quartile of CV of LDL-C was associated with 2.17-fold risk of hemorrhagic stroke (HR, 2.17; 95% CI, 1.25 to 3.75; P for trend=0.002) compared with the lowest quartile. We did not observe any significant association between TC and triglycerides variability with any of stroke. Consistent results were obtained when calculating variability index using SD, VIM, or ARV. Conclusions These findings suggest the high visit-to-visit HDL-C and LDL-C variability were associated with an increased incidence of ischemic and hemorrhagic stroke, respectively.

Objective To investigate the relationship between single nucleotide polymorphisms of interleukin 23 receptor (IL-23R) gene and Keshan disease (KD) in Northwest Chinese Han population.Methods A total of 285 Chinese Han subjects from Huangling,Shaanxi,including 79 KD patients (case group) and 206 control subjects (control group) were involved in this study.Genomic DNA was extracted from peripheral venous blood.The polymorphism of genetic variation was genotyped by matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF).All sample groups were tested for Hardy-Weinberg equilibrium using goodness-of-fit x2 test.Differences in genotype distribution between two groups were compared by x2 test.Logistic regression analysis was applied to detect association using age as a confounding factor.Results The gene frequency distribution of IL-23R gene rs10889677 in case group and control group conformed to the Hardy-Weinberg equilibrium (x2 =0.254,P ＞ 0.05).Correlation analysis results:the difference of genotype frequency of IL-23R gene rs10889677 in case group (CC,CA,AA were 6.3％,36.7％,57.0％,respectively) and control group (CC,CA,AA were 5.3％,43.2％,51.5％,respectively) was not statistically significant (x2 =1.008,P ＞ 0.05).After age adjustment,there was no significant difference in genotype frequency of IL-23R gene rs10889677 (x2sdj =0.669,P ＞ 0.05) between two groups.Conclusion There is no correlation between IL-23R gene rs10889677 and KD in Northwest Chinese Han population.