Highly developed molecular genetic techniques have got implemented widely in the diagnosis of birth defects and genetic diseases.Due to the special nature of genetic testing , there is still a lack of appropriate external quality assessment , but many clinical laboratories are conducting or going to conduct genetic diagnosis for monogenic diseases and prenatal diagnosis.In this paper , it will be discussed that how to ensure the quality control of the laboratory diagnosis of monogenetic diseases , based on the present application of genetic testing technologies and the difficulties in the diagnosis of monogenetic diseases.

Obesity and obesity-related diseases have become the main threat to human health .Acid secreted proteins that are rich in cysteine mainly derived from fat tissue , and are associated with insulin resistance , diabetes and diabetic nephropathy .This re-view summaries molecular biology features such as resistance of cell adhesion , regulating cell proliferation , tissue differentiation and embryonic development and the latest research progress of its role in the obesity and obesity related diseases .

ve To explore the air pollutibn by fluoride created by ceramics. Methods Air sampling, data analysis and evaluation were carried out in 8 sampling locations of Cizao town composed mainly by ceramics. Results The daily average levels of fluoride in air showed a range of 0.002 ?0.003 mg/m3 and over-standard rates of 14.29% ~ 100% respectively. The average levels of pollution indexes ranged from 0.81 to 3.59 in Cizao town. Conclusion Because the air had been polluted by fluoride in Cizao town, the environmental protection management and monitoring fluoride in ambient air should be strengthened further.

Objective To investigate the effect of Norvasc combined with Benazepril for treatment elderly hypertensive patients with Non-insulin-dependent diabetes mellitus .Methods 52 cases of elderly hypertensive patients with Non-insulin-dependent diabe-tes mellitus were selected as the study object and were randomly divided into the observation group and the control group ,each with 26 cases of patients .The observation group was given Norvasc combined with Benazepril while the control group was given Nor-vasc .Results After 8 weeks ,the SBP and DBP of the observation group were significantly lower than that of the control group (P<0 .05) .The FBG and 2h PBG were significantly lower than that of the control group as well as the ISI significantly higher (P<0 .05) .Conclusion Norvasc combined with Benazepril can effectively control the blood pressure and plasma glucose of elderly hy-pertensive with Non-insulin-dependent diabetes mellitus ,also improve the ISI of patients .It is deserved to be promoted widely in the clinical work .

Objective To study the location of coronary chronic total occlusion and the correlatin between coronary chronic total occlusion and coronary collateral. Methods SPSS was used to analyze the general clinical and coronary angiographic data of 113 patients with coronary bypass surgery performed. Results There were 61 patients with coronary chronic total occlusion. 71 sites of coronary chronic total occlusions were observed by coronary angiography, of which, one was located in left main coronary artery (0 9%), 17 in proximal left anterior descending artery (15 0%) , 9 in middle left anterior descending artery (8 0%), 3 in distal left anterior descending artery (2 7%), 5 in proximal left circumflex artery (4 4%), 6 in middle left circumflex artery (5 3%), 3 in distal left circumflex artery (2 7%), 9 in proximal right coronary artery (8 0% ), 10 in middle right coronary artery (8 8% ) and 8 in distal right coronary artery (7 1% ). There were 72 patients with coronary collateral. The coefficient of correlation between collateral and coronary chronic total occlusion was 0 707 (P=0 000 ).Conclusions Coronary chronic total occlusion is frequently located in proximal, middle left anterior descending artery and right coronary artery. There is significantly positive correlation between collateral and coronary chronic total occlusion.

Objective To compare the efficacy and adverse reactions of TA regimen (docetaxel +epirubicin) and immunization therapy of TA regimen combined with dendritic cell (DC)-cytokine induced killer cell (CIK) in treating the patients with metastatic breast cancer (MBC).Methods Clinical data of 43patients with MBC received treatment in our hospital from January 2011 to January.2013 were retrospectively analyzed.Patients included were divided into two groups according to the treatment,simple treatment group (TA regimen,control group,22 cases) and combined treatment group (TA regimen + DC-CIK cell,observation group,21 cases).The curative effect,improvement situation of clinical symptoms,adverse reactions and changes of T cell immune phenotype in peripheral blood of patients before and after treatment in the two groups were compared.Results The total efficiency of treatment in observation group (85.7％) was higher than that in control group (63.6％),and the difference was statistical significant (x2 =4.949,P =0.026).Among the incidences of all kinds of adverse reaction appeared during the treatment in two groups,the white blood cells count decreased was the highest in observation group (76.2％) and in control group (59.1％),the difference had no statistical significance (x2 =0.858,P =0.36).After treatment,the rates of fatigue,loss of appetite,insomnia and night sweats of patients in observation group were lower than those in control group (23.8％ vs.54.5％,x2 =4.246,P=0.04;19.0％ vs.54.5％,x2 =5.795,P=0.02;19.0％ vs.50.0％,x2 =4.532,P=0.03).TheCD3+(60.4±12.3vs.47.4±12.8,t=3.393,P＜0.01),CD3+/CD4+(41.7±9.6 vs.28.1±10.5,t=5.442,P＜0.01),CD4+/CD8+ (1.5 ±0.2 vs.1.0±0.2,t =8.195,P＜0.01),NK cells(27.35.9vs.15.3±6.1,t=6.643,P＜0.01),NKTcells(14.7±l.4vs.6.0±1.2,t=11.020,P ＜ 0.0l) after treatment in observation group were obviously higher than those in control group.Conclusion Comparing with the pure TA scheme,the curative effect of immunization therapy of TA regimen combined with DC-CIK cell in treating the patients with MBC is better.It significantly improves the immune functions of patients with MBC,and does not increase adverse reaction.

Objective To analyze the relationship among HIF-1α, ERCC1 gene polymorphisms and the effects of platinum-based chemotherapy for the treatment of advanced non-small cell lung cancer (NSCLC) Methods HIF-1α C1772T and ERCC1 C118T loci were genotyped with PCR-RFLP method. The relationship between genotypes and the outcome of treatment as well as TTP was investigated. Results HIF-1α and ERCC1 of 102 patients were under the Hardy-Weinberg equilibrium. Patients with HIF-1α CT+TT genotype showed a significantly higher chemotherapeutic efficiency compared with patients with CC genotype; Patients with ERCC1 CC genotype showed a significantly higher chemotherapeutic efficiency compared with patients with CT+TT genotype. The median TTP was 7.0 months for the 98 patients followed-up; 7.0 months for HIF-1α CT+TT genotype, and 6.0 months for CC genotype, and the difference showed no significance; The median TTP was 7.0 months for ERCC1 CC genotype, and 6.0 months for CT+TT genotype, and the difference was statistically significant. Conclusions Patients with HIF-1α CT+TT genotype or ERCC1 CC genotype have showed higher chemotherapeutic efficiency, and patients with ERCC1 CC genotype show longer median TTP.

Objective:To study the effects of colony-stimulating factor-1 (CSF-1) on the expression of osteoprotegerin (OPG ) in human dental follicle cells.Methods:Human dental follicle cells culture was established and cell crawling slides were stained by OPG antibody. The third to sixth passage cells were incubated with 25 ng/ml CSF-1 for 0.5,1,3 and 6 h respectively,then the conditioned medium and cells were collected for ELISA and RT-PCR assay respectively.Results:OPG was expressed in the cytoplasm of human dental follicle cells.GSF-1 at 25 ng/ml and 1 h-exposure down-regulated OPG expression in the cells(P

@@

Objective To investigate the application opportunity and effect of B-Lynch suture in severe postpartum hemorrhage during cesarean section. Methods One hundred patients with high risk to postpartum hemorrhage were randomly divided into two groups. Group A was given with preventive treatment by B-Lynch suture after the placenta was born. Group B was given with traditional treatment, such as kneading the uterus, pressing, "8" suture, stuffing with gauze first. B-Lynch suture was used after the failure of traditional treatment or the amount of bleeding was over 400 ml.At the same time, another 50 patients without severe postpartum hemorrhage were selected as control (group C). Observed the difference of the amount of bleeding during different time, the operation time and comphcations among the three groups. Results The amount of bleeding during operation and 2 h after childbirth in group A [(266.00±29.90),(301.33±40.30) ml] were obviously less than those in group B[(512.67±202.12), (554.17±201.78)ml](P<0.01). The operation time in group A [(33.73±2.28)min] was shorter than that in group B [(49.33±10.40) min] (P<0.01). The incidence rate of severe postpartum hemorrhage in group A (6%, 3/50) was lower than that in group B (64%, 32/50) (P<0.01). Every parameter in group A was similar with group C. There were no serious complications during and after operation. Conclusions The preventive use of B-Lynch suture in patients with high risk to postpartum hemorrhage attains much better effects, and depresses the incidence rate of severe postpartum hemorrhage, and also improves the living quality. B-Lynch suture should be. used widely in patients with high risk to postpartum hemorrhage preventively.