OBJECTIVETo determine the genome structure of human telomeric repeat binding factor 1 (TERF1) and its pseudogenes.

METHODSSequences were obtained from GenBank and analyzed using the BLAST program and other relevant biology program (Sequencher, DNA Strider and Autoassembler, etc) to determine the genome and pseudogenome structure of TERF1. PCR and sequencing were performed to verify the results.

RESULTTERF1 gene which mapped to 8q13 was divided into 10 exons. It had four processed pseudogenes located on chromosome 13, 18, 21 and X respectively (Psi TERF1-13 Psi TERF1-18 Psi TERF1-21 and Psi TERF1-X ). They were entire intronless TERF1 genes which lacked some exons. Three homologous fragments of at least 60 kb on the flanking region of Psi TERF1-13, Psi TERF1-18 and Psi TERF1-21, respectively were noted.

CONCLUSIONTERF1 gene has 10 exons. It has four processed pseudogenes which are located on chromosome 13, 18, 21, and X, respectively. Large homologous fragments that belong to the recently duplicated segments are transchromosomal duplications.

Chromosome Mapping ; Genetic Structures ; Humans ; Pseudogenes ; Telomeric Repeat Binding Protein 1 ; genetics

OBJECTIVETo investigate the effect of HS3ST3B1 on hepatitis B virus (HBV) replication.

METHODSHepG2 cells were classified into 7 groups according to the plasmids transfected: (1) Blank group, no plasmid transfected; 2. Positive control, transfected with pCH9-HBV which permits HBV replication; (3) Negative control, transfected with pCH9-HBV + pcDNA3.1 + pTZU6+1; (4) Treatment A, transfected with pCH9-HBV + pCDNA3.1-HS3ST3B1 + pTZU6+1; (5) Interference A, transfected with pCH9-HBV + pCDNA3.1-HS3ST3B1 + psh1126 (a plasmid to interfere HS3ST3B1 expression); (6) Treatment B, transfected with pCH9-HBV + pTZU6+1; (7) Interference B, transfected with pCH9-HBV + psh1126. The levels of HBV DNA were detected in the above groups by Southern blotting. HBV total RNA of Negative control, Treatment A and Interference A were quantified by Real-time PCR to determine the influence of HS3ST3B1 over-expression on the HBV RNA transcription. The activity of the four HBV promoters [core promoter (cp), x promoter(xp), surface antigen promoter1(sp1), surface antigen promoter2 (sp2)] were assayed by Dual-Luciferase Reporter Assay System. The data was analyzed using one way ANOVA, with P < 0.05 indicating statistically meaningful difference.

RESULTSouthern blot data revealed the level of HBV DNA in Treatment A and Interference A accounted for 10% +/- 2% and 31% +/- 4% of that in control. Compared with control, a statistical difference existed between Treatment A and Control, with F value equalling to 20.8 and P value equalling to 0.034 respectively. A statistical difference also existed between Interfere A and Treatment A, with F value equalling to 24.9 and P value equalling to 0.021 respectively. The level of HBV DNA in Experiment B was raised by 130% +/- 11% as compared to that in Interference B, and the levels of HBV DNA showed a dose-dependent decrease when H7 cells were transfected with 0.5, 1.0, 1.5 microg pCDNA3.1-HS3ST3B1 respectively. Statistical differences existed between control and H7 transfected with different dose of pCDNA3.1-HS3ST3B1, with F values equalling to 22.7, 20.3, 26.5 and P values equalling to 0.029, 0.041 and 0.015 respectively. Real-time PCR revealed that the HBV total RNA in Treatment A accounted for 17.0% +/- 2.7% of that in control and there was a statistical difference between Treatment A and control, with F value equalling to 25.6 and P value equalling to 0.018. In addition, HBV DNA in Interference A was restored to 74.0% +/- 3.9% of that in control, and there was also a statistical difference between Treatment A and Interference A, with F value equalling to 21.3 and P value equalling to 0.032. However, the down regulation of HBV total RNA had nothing to do with HBV promoters activity.

CONCLUSIONHS3ST3B1 can inhibit HBV replication and reduce the level of HBV total RNA, but the downregulation of HBV total RNA may not be the result of direct interaction of HS3ST3B1 and HBV promoters.

DNA Replication ; DNA, Viral ; biosynthesis ; Hep G2 Cells ; Hepatitis B virus ; genetics ; physiology ; Humans ; Plasmids ; Sulfotransferases ; genetics ; Transfection ; Virus Replication

Objective To explore the predictive value of CT radiomics and morphological features for the prognosis and survival in non-small cell lung cancer(NSCLC)patients.Methods The clinic data of 300 NSCLC patients(300 lesions)were downloaded from the Cancer Imaging Archive,with 210 randomly selected as the training set and 90 as the test set.According to the prognosis and survival,the patients were divided into two groups with survival period≤3 and＞3 years.3D Slicer software was used to delineate the regions of interest layer by layer in CT images,and the radiomics features were extracted from each region of interest.Both t-test and least absolute shrinkage and selection operator were utilized for radiomics feature screening.Three types of prediction models,namely radiomics model,morphological model and combined model,were constructed with Logistic regression,whose performances were evaluated using the receiver operating characteristic(ROC)curve.Results The differences in radiomics labels and mediastinal lymph node metastasis between the training set and the test set were statistically significant.For radiomics model,morphological model and combined model,the area under the ROC curve was 0.784(95%CI:0.722-0.847),0.734(95%CI:0.664-0.804)and 0.748(95%CI:0.680-0.815)in the training set,and 0.737(95%CI:0.630-0.844),0.665(95%CI:0.554-0.777)and 0.687(95%CI:0.578-0.797)in the test set,which demonstrated that radiomics model had the best diagnostic performance.Conclusion The CT radiomics model can effectively predict the prognosis and survival in NSCLC patients.

OBJECTIVETo investigate the correlation between intercellular adhesion molecule1 (ICAM1) gene K469E polymorphism and coronary heart disease(CHD) in Han Chinese population.

METHODSUsing the methods of polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP), 173 CHD patients and 141 controls were analyzed for the polymorphism, genotype and allele distribution of ICAM1 gene K469E.

RESULTSThe distribution of ICAM1 genotypes was in Hardy-Weinberg equilibrium. The frequency of KK genotype in CHD group was significantly higher than that in control (64.2% vs 48.9%, P<0.01). Similarly, the frequency of K allele in CHD group was significantly higher than that in control (79.2% vs 69.9%, P<0.01). With Logistic Regression Analysis ruling out the influences of age, gender and other CHD risk factor, the homozygous individual with KK genotype was 2.35 folds of KE or EE genotype one suffering from CHD (OR: 2.35, 95%CI: 1.03-5.36, P<0.05).

CONCLUSIONICAM1 gene K469E polymorphism is associated with CHD risk of Han Chinese population, the K allele may serve as a genetic risk factor of coronary heart disease.

Amino Acid Substitution ; Asian Continental Ancestry Group ; genetics ; Coronary Disease ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Intercellular Adhesion Molecule-1 ; genetics ; Logistic Models ; Male ; Polymorphism, Genetic ; Risk Factors

In this article, the mechanism of inheritance behind inherited hearing loss and genetic susceptibility in noise-induced hearing loss are reviewed. Conventional treatments for sensorineural hearing loss (SNHL), i.e. hearing aid and cochlear implant, are effective for some cases, but not without limitations. For example, they provide little benefit for patients of profound SNHL or neural hearing loss, especially when the hearing loss is in poor dynamic range and with low frequency resolution. We emphasize the most recent evidence-based treatment in this field, which includes gene therapy and allotransplantation of stem cells. Their promising results have shown that they might be options of treatment for profound SNHL and neural hearing loss. Although some treatments are still at the experimental stage, it is helpful to be aware of the novel therapies and endeavour to explore the feasibility of their clinical application.
Animals ; Evidence-Based Practice ; Genetic Engineering ; Genetic Therapy ; Hearing Loss, Sensorineural ; genetics ; therapy ; Humans ; Mice ; Mice, Inbred C57BL ; Stem Cell Transplantation

Acute Disease ; Adolescent ; Adult ; Aged ; China ; epidemiology ; Female ; Humans ; Male ; Middle Aged ; Pesticides ; poisoning ; Poisoning ; epidemiology

Objective To produce three-dimensional cartilage nanoscaffolds based on extracellular matrix.Methods Nanoscaffolds of collagen type Ⅱ(Col-Ⅱ), hyaluronic acid(HA)and chondroitin sulfate(CS)were prepared by mixing water,trifluoroethanol and hexafluoroisopropanol as a solvent.The structure, morphology, thermal property, mechanical performance and hydrophobicity of the scaffolds were characterized.Results There were interactions between Col-Ⅱ,HA and CS.The scaffolds were hydrophobic.The Col-Ⅱ triple-helix structure wasn't completely damaged.In the study, scaffold fibers were smooth,slender and dimensionally stable.The scaffolds had good thermal stability and optimal tensile properties could be obtained at the mass ratio of 7:1:1.Conclusion In this study, scaffolds have good thermal, mechanical and structural properties and are expected to be used in cartilage repair.

· AIM:To investigate the correlation between retinal thickness (CSRT) in the macular region and glycosylated hemoglobin (HbA1c) of patients with type 2 diabetes mellitus.· METHODS:Totally 39 cases of patients with diabetes (77 eyes) who screened from May 2016 to March 2017 were selected,and were divided into two groups according to the levels of HbA1c,which the 24 cases (47 eyes) in the low HbA1c group (HbA1c＜8％) and 15 cases (30 eyes) in high HbA1c group (HbA1c≥8％).Other 22 cases of normal people (normal control group) and who for healthy physical examination were selected in the same period.Then,the correlation between HbA1c level and CSRT were analyzed by the Spearman correlation analysis.· RESULTS:In the high HbA1c group,HbA1c was (10.45±1.30)％,FBG was 10.67±1.64mmol/L and 2hPG was 15.98± 1.38mmol/L,which was higher than that in the low HbA1c group,and there was significant difference between the two groups (P＜ 0.05).The CSRT in the normal group was lower than the low HbA1c group and the high HbA1c group,and there was significant difference between the groups (P＜ 0.05).According to the analysis of the Spearman method,there was positive correlation between HbA1c and CSRT,macular volume,average macular thickness,FBG and those parameters,2hPG and them (P＜0.01).· CONCLUSION:The HbA1c level is associated with retinal thickening in the macular region of patients with diabetes,which could predict the severity of diabetic retinopathy and provide important guidance for prevention and treatment.

Background: and Purpose This study aimed to construct an optimal dynamic nomogram for predicting malignant brain edema (MBE) in acute ischemic stroke (AIS) patients after endovascular thrombectomy (ET). Methods: We enrolled AIS patients after ET from May 2017 to April 2021. MBE was defined as a midline shift of >5 mm at the septum pellucidum or pineal gland based on follow-up computed tomography within 5 days after ET. Multivariate logistic regression and LASSO (least absolute shrinkage and selection operator) regression were used to construct the nomogram. The area under the receiver operating characteristic curve (AUC) and decisioncurve analysis were used to compare our nomogram with two previous risk models for predicting brain edema after ET. Results: MBE developed in 72 (21.9%) of the 329 eligible patients. Our dynamic web-based nomogram (https://successful.shinyapps.io/DynNomapp/) consisted of five parameters: basal cistern effacement, postoperative National Institutes of Health Stroke Scale (NIHSS) score, brain atrophy, hypoattenuation area, and stroke etiology. The nomogram showed good discrimination ability, with a C-index (Harrell’s concordance index) of 0.925 (95% confidence interval=0.890–0.961), and good calibration (Hosmer-Lemeshow test, p=0.386). All variables had variance inflation factors of <1.5 and tolerances of >0.7, suggesting no significant collinearity among them. The AUC of our nomogram (0.925) was superior to those of Xiang-liang Chen and colleagues (0.843) and Ming-yang Du and colleagues (0.728). Conclusions Our web-based dynamic nomogram reliably predicted the risk of MBE in AIS patients after ET, and hence is worthy of further evaluation.

OBJECTIVETo evaluate the technique and significance of mastoscopic axillary sentinel lymph node biopsy.

METHODSSixty-two patients with breast cancer use methylene blue to test axillary sentinel lymph node. Sentinel lymph node was moved with endoscopy, and endoscopic axillary lymph nod dissection was performed. Pathological examination of sentinel lymph node and axillary lymph node was made with HE. To evaluate detection rate and false negative rate in sentinel lymph node.

RESULTSAmong the 62 patients, 61 were confirmed by endoscopic axillary sentinel lymph nod biopsy. Detection rate was 98.4%. Thirty-five cases were no metastasis, 27 cases were metastasis, false negative rate was 0.

CONCLUSIONSMastoscopic axillary sentinel lymph node biopsy has a high detection rate, good efficiency of cosmetic and lower complications. It has higher sensitivity than traditional axillary lymph nod dissection and provide accurate lymph node stages.

Adult ; Aged ; Breast Neoplasms ; pathology ; Endoscopy ; methods ; Female ; Humans ; Lymphatic Metastasis ; diagnosis ; Middle Aged ; Sensitivity and Specificity ; Sentinel Lymph Node Biopsy ; methods