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.

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 .

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 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 analyze the glucose and metabolism and perinatal outcome in pregnant women with different extent gestational diabetes mellitus (GDM) of IADPSG diagnostic criteria,and to investigate the necessity to manage mild GDM.Methods Total 368 pregnant women at 24-28 gestational weeks were given 75 g glucose oral glucose tolerance test (OGTT).They were divided into three groups according OGTI result,single abnormal group (GDM1 group,148 cases),combination abnormal group (GDM2 group,120 cases) and normal group (100 cases).The three groups were given determinations of glycosylated hemoglobin,fasting C peptide (FCP),fasting insulin (FINS),total cholesterol (TC),triglyceride (TG),high density lipoprotein cholesterol (HDL-C),low density lipoprotein cholesterol (LDL-C),apolipoprotein (Apo) A1 and ApoB,calculated homeostasis model of assessment for insulin resistance index (HOMA-IR) and homeostasis beta cell index (HBCI).Results From normal group,GDM1 group to GDM2 group,the fasting plasma glucose,glycosylated hemoglobin,FCP,HOMA-IR,TG were gradually increased [(4.39 ± 0.38),(4.98 ± 0.49),(5.25 ± 0.59) mmol/L; (5.10 ± 0.29)％,(5.27 ± 0.36)％,(5.46 ± 0.46)％ ;(1.37 ±0.67),(1.73 ±0.73),(1.99 ±0.96) μ g/L;1.07 ±0.42,1.26 ±0.54,1.37 ±0.43; (2.77 ±0.67),(3.05 ± 0.78),(3.34 ± 0.92) mmol/L,P ＜ 0.01],while HBCI was gradually decreased (5.93 ± 0.48,5.42 ±0.45,5.29 ± 0.44,P ＜ 0.01).ApoA1 in GDM1 group and GDM2 group were significantly lower than that in normal group [(2.21 ±0.39),(2.15 ±0.35) g/L vs.(2.42 ±0.37) g/L,P ＜0.01],but there was no significant difference between GDM1 group and GDM2 group (P＞ 0.05).ApoB/ApoA1 in GDM2 group was significantly higher than that in normal group and GDM1 group (0.49 ±0.14 vs.0.42 ±0.14 and 0.45 ±0.12,P ＜ 0.01),but there was no significant difference between normal group and GDM 1 group (P ＞ 0.05).There was no significant difference in FINS,TC,HDL-C,LDL-C,ApoB,neonatal weight and the incidence rate of premature delivery among the three groups (P ＞ 0.05).The incidence rates of eclampsism,large for date infant and cesarean section in GDM1 group and GDM2 group were significantly higher than those in normal group [8.1％(12/148) and 14.2％(17/120) vs.2.0％(2/100),14.9％(22/148) and 16.7％(20/120)vs.6.0％(6/100),52.0％(77/148) and 54.2％(65/120) vs.30.0％(30/100),P＜ 0.01].Conclusions Different extent GDM of IADPSG diagnostic criteria has different extent abnormal glucose and lipid metabolism and abnormal perinatal outcome,so it is necessary to diagnose and manage GDM pregnant women even mild GDM.

ObjectiveTo evaluate the clinical efficacy of intravenous catheter in combination with ultraviolet radiation for postherpetic neuralgia (PHN).Methods96 patients with PHN were randonly divided into three groups.Intravenous catheter plus UVB radiation was given in the test group(32 patients).Intravenous catheter or UVB radiation was only given in two control groups (32 patients/group), respectively.ResultsThe total effective rate in the test group was 96.88％ (31/32) and the average onset time was 1.55 days.However,the total effective rate in two control groups was 81.25％ (26/32) and 68.75％ (22/32) ,and the average onset time was 2.48 days and 7.41days.There was a statistical difference observed in curative rate (x2 = 5.33,42.42, P ＜ 0.05 or P ＜ 0.01), the total effective rate(x2 =4.59,8.89,P＜0.05 or P＜0.01) and the average onset time(t =22.96,11.96,all P＜0.01)between the test group and two control groups.Moreove,there was also a statistical difference observed in curative rate (x2 = 22.44, P ＜ 0.001) and the average onset time (t = 29.30, P ＜ 0.01) between two control groups.ConclusionIntravenous catheter in combination with UVB radiation was much better than intravenous catheter or UVB radiation only in the treatment of PHN.

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.

Background and purpose:Increasing thyroid cancer (TC) incidence has caused wide public concern. It is typically interpreted as an increase in the true occurrence of TC but may also relfect changing life style or aging of population or increased diagnostic scrutiny. This study describes the temporal trend for incidence of TC and survival rate of patients by summarizing the 41 years TC incidences and follow-up data in Xuhui District, Shanghai.. Methods:Annual TC incidence data of Xuhui District from 1973 to 2013 were provided by Shanghai Cancer Registry System. The calculation of age-standardized incidence rates (ASIR) was based on the population of the year 1973. Temporal trends in TC incidence were analyzed based on the natural spline regression model. Annual percentage change (APC) was estimated by Jointpoint software from US National Cancer Institute, as well as survival rates were estimated using Kaplan-Meier method by Stata software.Results:During the period from 1973 to 2013, papillary cancer was the dominant type with proportion 69.8%. The ASIRs for female TC were 2.51-2.70 times as high as those for male TC. The average age of TC incidence for male was 50.04±14.71 while for female was 48.57±13.65. When aging factors were removed, incidence rate of TC was on the rise since 1981 with the APC of 8.46% (95%CI: 5.9%-11.1%), and on a rapid growth from 2004 to 2013 with the APC of 20.30% (95%CI: 9.8%-31.7%). The study showed that the 5-year TC survival rate was 95.21%, and the 10-year TC survival rate was 89.09%. In addition, survival rate of female was higher than that of male (χ2=15.43,P=0.000 1).Conclusion:The rising trend of TC in Xuhui District is similar to those in Shanghai and some developed countries. Although the mortality rate of TC is low, it has a rapid increase in incidence. Studies on factors associated with TC will help to clarify the epidemiological features about TC and promote more eff-cient prevention and control strategies.

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.