Objective To screen and identify differentially expressed genes in colorectal carcinoma and explore the possible molecular pathogenesis of colorectal carcinoma.Methods The differentially expressed cDNA bands in colorectal carcinoma specimens and matched adjacent normal tissues were isolated by fluorescent mRNA differential display.Following differential display PCR (DD-PCR),all cDNA fragments were sequenced.By using BLAST software,the sequencing results were compared with Genebank database for homologue analysis.RT-PCR was used to detect the expression of one of the differentially expressed genes in colorectal carcinoma samples were identified by semi-RT-PCR.Results BLAST analysis revealed that the cDNA band was homologous to DDX32 (99%) and its up-regulated expression in colorectal carcinoma tissues was confirmed by RT-PCR (P

Objective To investigate the proliferation inhibition of chlorpromazine combined with taxol on Hep-2 cells (human laryngeal carcinoma cell line) and the effects on cell cycle progression. Methods Hep-2 cells at logarithmic growth phase were divided into taxol groups(3.0,6.0 and 12.0 mg?L-1),chlorpromazine(12.0 mg?L-1) comined with taxol (4 mg?L-1)group and control group (100 mL culture fluid).MTT and flow cytometry were used to detect the proliferation inhibition rates of Hep-2 cells in various groups.Flow cytometry was also used to analyze the cell cycle progression of Hep-2 cells and apoptotic rate after administration.Results The proliferation inhibition rates in 3.0,6.0 and 12.0 mg?L-1 taxol groups were 14.0%,23.9% and 36.7%,respectively,there were significant differences between three groups(P

Objective: In order to improve the technology of Chinese medicine extraction, experiments were made with large pore size ultrafiltration (LPS UF) membranes in the process of Chinese medicine production, and the feasibility of replacing traditional alcohol sedimentation with LPS UF method in the production of compound Chinese medicine was also explored. Methods: The water extraction liquid of Shenbao Mixture with alcohol percolation extract was ultrafiltered. Icariin as index component was determined. Results: Component of Icariin was reserved as 90%, this technology was similar to alcohol extraction. Conclusion: The experiments on the extraction of “Shengbao” mixture show that the LPS UF membranes with MWCO above 100,000 were more effective in retaining the effective ingredients and removing the precipitates.

Objective: To construct a prediction model for preeclampsia (PE) risk in twin-pregnant women, so as to provide the basis for early screening and prevention of PE. Methods: A total of 467 twin-pregnant women who underwent prenatal examination and delivered at Huzhou Maternal and Child Health Hospital were selected. Sixty cases with preeclampsia (PE) were included in the case group, and 60 women without PE were included in the control group. General information, blood biochemical indicators and uterine artery resistance index (UtA-RI) were collected. A logistic regression model was used to screen predictive factors and establish a nomogram. The Bootstrap method was performed for the internal validation; the receiver operating characteristic (ROC) curve, calibration curve and decision curve analysis were employed to evaluate the discrimination, calibration and clinical utility of the nomogram, respectively. Results: In the case group, there were 47 individuals (78.33%) aged younger than 35 years, 21 individuals (35.00%) with pre-pregnancy body mass index (BMI) of 25 kg/m2 and above, and 33 individuals (55.00%) with in vitro fertilization. In the control group, there were 57 individuals (95.00%) aged younger than 35 years, 8 individuals (13.33%) with pre-pregnancy BMI of 25 kg/m2 and above, and 39 individuals (65.00%) with natural pregnancy. Multivariable logistic regression analysis identified age, pre-pregnancy BMI, method of conception, placental growth factor (PLGF) and UtA-RI as risk prediction factors for PE in twin-pregnant women. The established nomogram had an area under the ROC curve of 0.827 (95%CI: 0.755-0.899), a sensitivity of 0.767, a specificity of 0.733, a good discrimination and calibration, and a relatively high clinical net benefit. Conclusion The nomogram established by age, pre-pregnancy BMI, method of conception, PLGF and UtA-RI has a good predictive value for the risk of PE in twin-pregnant women.

Objective:To develop and test the reliability and validity of the questionnaire on knowledge, attitude and practice of hereditary tumor management in nurses, so as to provide a basis for the evaluation of nurses′ knowledge, attitude and practice of genetic tumor managementMethods:This study was a cross-sectional study. According to the theory of knowledge, attitude and practice, the preliminary draft of knowledge, attitude and practice questionnaire for the management of hereditary tumors in nurses was prepared by means of literature review, group discussion, expert correspondence and pre-investigation. From December 2022 to January 2023, 173 nurses from 27 hospitals in Guangdong Province were selected as survey objects by convenience sampling method, and the reliability and validity of the questionnaire were tested to form the final questionnaire.Results:A total of 145 valid questionnaires were collected finally, including 6 males and 139 females aged (31.35 ± 7.23) years old. There were 50 items in the questionnaire of knowledge, attitude and behavior. The Cronbachαcoefficients of the total questionnaire and each dimension was 0.965, 0.938, 0.967, 0.956, and the split half reliability coefficient was 0.780. The total content validity of the questionnaire was 0.960, and the content validity of each item was 0.857 to 1.000. Seven common factors were selected by exploratory factor analysis, and the cumulative variance contribution was 68.72%.Conclusions:The questionnaire on knowledge, attitude and practice of hereditary tumor management in nurses has good reliability and validity. It can be used as a survey tool to study nurses′ knowledge, attitude and behavior of hereditary tumor management.

Objective To investigate hemoglobin by capillary zone electrophoresis in α-thalassemia screening application.Methods Blood specimens collected from 1000 early pregnancy women were analyzed by fluorescent PCR technique for αt-thalassemia genetic diagnosis.The samples were divided into thalassemia group and normal group according to the risk of having α-thalassemia related genes.Then compare hemoglobin ingredients difference between two groups.Results In thalassemia group,the mean and standard deviation of HbA2 respectively was 1.96 and 0.386,while HbF respectively was 0.01 and 0.098.In control,the mean and standard deviation of HbA2 respectively was 2.79 and 0.418,while HbF respectively was 0.01 and 0.105.There was significant difference on value of HbA2 among different groups (P ＜ 0.05),but there was no significant difference on value of HbF.If the cut-off value of HbA2 was less than 2.2 in α-thalassemia screening,the detection rate of carrying α-thalassemia gene was 9/16,and false negative rate was7/16.If the cut-off value of HbA2 was less than 2.4,the detection rate of carrying α-thalassemia gene was 10/16,and false negative rate was 6/16.Conclusion The screening efficiency of α-thalassemia is less than β-thalassemia by capillary electrophoresis.But choosing a reasonable cut-off value and combination with other indicators are still clinically acceptable screening program.

Objective To investigate the distribution of methyleneterahydrofolate reductase (MTHFR) C677T gene polymorphisms and serum homocysteine (Hcy) levels in pregnant women. Method A total of 2 066 women with singleton pregnancies undergoing prenatal examinations in the Maternity and Child Health Care Hospital of Huzhou from January 2017 to October 2017 were recruited for the study.The MTHFR C677T genotype was detected by PCR-fluorescence probing, and the serum Hcy levels were detected by the cyclic enzyme method. According to the MTHFR C677T genotype detection analysis, the results were divided into the CC-type, CT-type, and TT-type groups. Statistical analyses were performed using the Hardy-Weinberg genetic equilibrium test, chi-square test, variance analysis, and t test. Result Among the 2066 pregnant women, the CC, CT, and TT genotype frequencies for the MTHFR C677T gene were 39.35%,46.52%,and 14.13%,respectively.The Cand T allele frequencies were 62.61% and 37.39%, respectively. The statistical significance values for the Shanxi, Zibo, Shanghai, Suzhou, Shangzhi, Xi'an, Huizhou, and Nanning areas were as follows: χ2=161.999, 166.083; 111.005, 112.517; 416.146, 441.245;14.262,14.23;36.368,35.871;199.498,204.771;19.641,16.377;and 66.79,61.593,respectively;P<0.05. The level of serum Hcy was(7.48±2.20)μmol/L,and the abnormal rate was 3.53%.The level of serum Hcy and the abnormal rate among the 3 genotypes were distributed as follows: TT>CT>CC. The difference was statistically significant(F=120.968, χ2=52.572, P=0.000). Conclusion The distribution of genotype frequencies for MTHFR C667T in 2 066 pregnant women was different in various geographical regions.The level of serum Hcy was associated with the MTHFR C677T gene. Observing MTHFR C677T gene polymorphisms and serum Hcy levels is helpful for monitoring and guiding folic acid supplementation during pregnancy,and establishing reasonable individual health preventive measures.It is an important method to improve the quality of life of the offspring and the family happiness index.

Objective To investigate the gene carried condition and hematological characteristics of α-thalassemia in pregnant women in HuZhou area,and provide scientific data for prevention of birth defects with thalassemia.Methods Real-time fluorescent quantitative PCR (Real-time PCR) was applied for genetic screening and diagnosis of alpha thalassemia on 1000 cases of pregnant women.Positive samples were verified by traditional gene diagnosis of α-thalassemia,meanwhile using hemoglobin electrophoresis technology to screen alpha thalassemia.Results 16 cases were detected α-thalassemia and the thus α-thalassemia carrier ratio was 1.6％.16 patients were diagnosed as deletion type of α-thalassemia,while mutantion type was not detected.These results were the same as checked by traditional gene diagnosis of α-thalassemia.All samples screening for hemoglobin by capillary zone electrophores,α-thalassaemia screening was positive in 5 cases.Conclusion The α-thalassemia gene carrying rate of pregnant women in Huzhou city was 1.6％.Using reasonable methods to screen pregnant women has positive significance on prevention of the occurrence of birth defects.

Objective:To analyze the types and distribution of pathogenic variants for neonatal genetic diseases in Huzhou, Zhejiang Province.Methods:One thousand neonates (48 ~ 42 h after birth) born to Huzhou region were selected as the study subjects. Dry blood spot samples were collected from the newborns, and targeted capture high-throughput sequencing was carried out for pathogenic genes underlying 542 inherited diseases. Candidate variants were verified by Sanger sequencing.Results:Among the 1 000 newborns, the male to female ratio was 1.02 : 1.00. No pathogenic variants were detected in 253 cases, whilst 747 cases were found to carry at least one pathogenic variant, which yielded a carrier rate of 74.7%. The most frequently involved pathogenic gene was FLG, followed by GJB2, UGT1A1, USH2A and DUOX2. The variants were classified as homozygous, compound heterozygous, and hemizygous variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), 213 neonates were verified to have carried pathogenic and/or likely pathogenic variants, with a positive rate of 21.3%. The most commonly involved genes had included UGT1A1, FLG, GJB2, MEFV and G6PD. Conclusion:Newborn screening based on high-throughput sequencing technology can expand the scope of screening and improve the positive predictive value. Genetic counseling based on the results can improve the patients′ medical care and reduce neonatal mortality and childhood morbidity, while provide assistance to family members′ health management and reproductive decisions.