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 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.

Objective To study the treatment of renal artery stenting for patients with coronary artery heart disease and renal artery stenosis who need coronary atery bypass graft (CABG) and its effect on preventing acute renal dysfunction after CABG. Methods From April 2001 to January 2005, renal artery stenting was carried out in 82 patients (a total of 104 renal arteries) with CHD and renal artery stenosis who needed CABG. Among the 82 patients, 77 of them accompanied with hypertension and 21 of them had abnormal renal function. Heparin was selected as anticoagulant other than anti-platelet drug and low molecular weight heparin before stenting. Results All of the stents were successfully implanted in 104 renal lesions without complication. Blood creatinine (Cr) reduced in 9 patients with renal dysfunction by the time of discharge. Three patients had blood Cr increased provisionally after stenting. Four patients with normal pre-operational renal function showed transient increase in blood Cr after stenting. All of the patients with transient blood Cr elevation had bilateral renal artery stenosis. Conclusion Renal artery stenosis may cause acute renal failure after CABG. Pre-CABG renal artery stenting may prevent the occurance of acute renal failure after operation.

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.

Objective To explore the changes of coagulation factors in Xinjiang Uygur and Han patients with diabetic mellitus in order to provide reference for the prevention and treatment of diabetic mellitus patients.Methods 2 100 patients with diabetic mel-litus were taken as the patient group which were diagnosed in our hospital between February 2014 and April 2015,another 446 healthy people were collected as the control group.The difference of coagulation between diabetic mellitus group and control group was compared.Coagulation between Uygur and Han was compared for 2 100 diabetic mellitus patients.Results The APTT of dia-betic mellitus group were significantly less than that in control group(P <0.05).FIB of diabetic mellitus group were significantly higher than that in control group(P <0.05).The difference of PT between diabetic mellitus group and control group were not sig-nificant(P >0.05).The APTT of Uygur group were significantly less than Han group(P <0.05).FIB of Uygur group were signifi-cantly higher than Han group(P <0.05).PT between Uygur group and Han group was not significant(P >0.05).Conclusion Fac-tors were difference of diabetic mellitus patients and healthy people,coagulation factors in diabetic mellitus patients of Xinjang Uygur and Han.

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