Identified OAS3 gene variants associated with coexistence of HBsAg and anti-HBs in chronic HBV infection.

The underlying mechanism of coexistence of hepatitis B surface antigen (HBsAg) and hepatitis B surface antigen antibody (anti-HBs) is still controversial. To identify the host genetic factors related to this unusual clinical phenomenon, a two-stage study was conducted in the Chinese Han population. In the first stage, we performed a case-control (1:1) age- and gender-matched study of 101 cases with concurrent HBsAg and anti-HBs and 102 controls with negative HBsAg and positive anti-HBs using whole exome sequencing. In the second validation stage, we directly sequence the 16 exons on the OAS3 gene in two dependent cohorts of 48 cases and 200 controls. Although, in the first stage, a genome-wide association study of 58,563 polymorphism variants in 101 cases and 102 controls found no significant loci (P-value ≤ .05/58563), and neither locus achieved a conservative genome-wide significance threshold (P-value ≤ 5e-08), gene-based burden analysis showed that OAS3 gene rare variants were associated with the coexistence of HBsAg and anti-HBs. (P-value = 4.127e-06 ≤ 0.05/6994). A total of 16 rare variants were screened out from 21 cases and 3 controls. In the second validation stage, one case with a stop-gained rare variant was identified. Fisher's exact test of all 149 cases and 302 controls showed that the rare coding sequence mutations were more frequent in cases vs controls (P-value = 7.299e-09, OR = 17.27, 95% CI [5.01-58.72]). Protein-coding rare variations on the OAS3 gene are associated with the coexistence of HBsAg and anti-HBs in patients with chronic HBV infection in Chinese Han population.

Establishment and analysis of the prediction model for cervical squamous cell carcinoma.

OBJECTIVE: This study aimed to construct a prediction model for cervical squamous cell carcinoma and evaluate its accuracy in diagnosing cervical squamous cell carcinoma. PATIENTS AND METHODS: Fifty patients with initially histopathologically confirmed cervical squamous cell carcinoma and 150 patients with initially histopathologically confirmed cervical intraepithelial neoplasia (CIN) were enrolled. The high-risk human papillomavirus (HR-HPV) infection, human telomerase mRNA component (hTERC) gene and cell-myc (c-myc) gene amplification, and minichromosome maintenance protein 5 (MCM5) protein expression were detected. The indicators related to cervical cancer were screened. The regression model was established to predict cervical squamous cell carcinoma with backward logistic stepwise regression method, and the accuracy of the model was evaluated. RESULTS: Histograms for HR-HPV infection and viral load, hTERC and c-myc gene amplification, and MCM5 protein expression were constructed. There was a linear relationship between hTERC (X1), HR-HPV viral load (X2), MCM5 (X5) and the regression equation. Also, hTERC (X1), HR-HPV viral load (X2) and MCM5 (X5) were correlated with cervical squamous cell carcinoma. The regression model Logit (p) = -66.283 + 0.042 X1 + 0.061 X2 + 0.052 X5 was established. The model-fitting effect and prediction accuracy were evaluated, HL test p = 1 (p > 0.05). The model fitting effect was good, Cox-Sn ell R2 was 0.643 and Nagelkerke R2 was 0.958. The high accuracy of the model was 98.5%. CONCLUSIONS: The fitting-effect of the regression model established by hTERC gene expression, HR-HPV viral load and MCM5 protein was good. The prediction accuracy of the model for cervical squamous cell carcinoma was high. The combined test of hTERC gene amplification, HR-HPV viral load and MCM5 protein could be used to predict and evaluate cervical squamous cell carcinoma.

Selective retention of the great saphenous vein to prevent saphenous nerve injury during varicose vein surgery.

OBJECTIVE: To explore the selective retention of the great saphenous vein trunk below the knee to prevent saphenous nerve injury during varicose vein surgery. PATIENTS AND METHODS: This research was a single-center prospective randomized trial. From January 2009 to January 2012, 280 patients of varicose veins in the great saphenous vein were treated and divided into two groups of 140 cases each. In the observation group, the vascular trunk of the great saphenous vein was stripped to below the knee level whilst that in the control group, it was stripped to the ankle level. Patients in both groups were treated with a transilluminated powered phlebectomy (TIPP) and foam sclerotherapy. Primary end points were postoperative pain, saphenous nerve injury, quality of life and recurrence rate. RESULTS: After one month follow-up: 5.71% of patients in the observation group had neurological symptoms, while 14.29% of patients had neurological symptoms in the control group. The saphenous nerve injury between the two groups was statistically significant. Postoperative follow-up of one year, 1.47% patients had symptoms of neurological disorders in the observation group, while 7.14% patients had symptoms of neurological disorders in the control group. The saphenous nerve injury between the two groups was statistically significant. Therefore,  selective retention of great saphenous vein below-knee can prevent saphenous nerve injury. The main outcome measures were postoperative pain, missing saphenous nerve, improvement of symptoms and the incidence of recurrence. The follow-up after one month showed that the percentage of neurological symptoms in the observation group and the control group was 5.71% and 14.29% respectively, and the saphenous nerve injury showed a statistical difference. The follow-up after one year showed 1.47% of abnormal sensation in the observation group and 7.14% of dysesthesia or paresthesia in the control group in surgical limb according to subjects' claims, and there existed a statistical difference in the saphenous nerve injury. CONCLUSIONS: The selective retention of the great saphenous vein trunk below the knee can prevent the saphenous nerve injury.

Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel.

ATP-sensitive potassium channels play an important role in myocardial electrical activity. Genetic disruption of these channels predisposes the myocardium to cardiac diseases. Herein we investigated whether two polymorphisms, E23K and I337V, located in the Kir6.2 subunit of ATP-sensitive potassium channels are associated with dilated cardiomyopathy (DCM) in a Chinese population. Blood was collected from DCM patients and controls. DNA was extracted for polymerase chain reaction, which was followed by DNA sequencing. The 2 polymorphisms were present in both DCM patients and normal controls. The frequencies of both the E23K and the I337V polymorphisms were not significantly different between DCM patients and normal controls. However, in DCM patients carrying the E23K polymorphism, the left ventricular end diastolic dimension (LVEDD) and the left atrial dimension (LAD) were significantly greater than those in DCM patients without the E23K polymorphism. Moreover, the occurrence of ventricular arrhythmias in DCM patients was also slightly increased in the presence of the E23K polymorphism (P < 0.05). We failed to identify an association between the I337V polymorphism and LVEDD, LAD, or ventricular arrhythmias in patients with DCM. The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the risk of negative outcomes such as congestive heart failure and sudden cardiac death by affecting LVEDD and LAD.