Congenital heart disease (CHD)is the most common human congenital malformation,which is the biggest cause of infant morbidity and mortality.Even though it can be corrected by surgical operation,the patient also faces a variety of surgical complications and even the risk of disease recurrence,which brings huge economic pressure to the society.At present,the occurrence of CHD is related to the gene mutation,chromosome variation,environmental fac-tors and epigenetic inheritance.This paper focuses on the genetic basis of CHD and genetic testing technology,to deepen the understanding of the genetic basis of the disease,to provide the basis for the prevention of disease and early diagnosis.

?2 Microglobulin levels were measured by radioimmunoassay in the serum of 114 patients with viral hepatitis and asymptomatic HBsAg carriers, and compared with 24 normal controls.Elevated serum ?2 microglobulin levels were found in acute viral hepatitis, chronic persistent or active hepatitis. The quantity of the serum ?2 microglobulin was remarkably increased in the chronic active hepatitis (P

Objective To evaluate the efficacy and safety of recombinant human tumor necrosis factor-α receptor Ⅱ IgG: Fc fusion protein for injection (rhTNFR: Fc) treatment in Chinese patients with early rheumatoid arthritis (ERA) and active spondyloarthritis. Methods This was a large-scale, multicenter, open-label, phase Ⅳclinical observational study. The dosage of rhTNFR: Fc was 50 mg per week, combined or not combined with other drugs. The primary endpoint of efficacy included the proportion of patients with low disease activity [simplified disease activity index (SDAI)≤11] at 3 month and 6 month. Secondary endpoint variables included clinical disease activity index (CDAI), disease activity score 28 based on C-reactive protein (DAS28-CRP) and health assessment questionnaire(HAQ). The primary endpoint of SpA was the ankylosing spondylitis disease activity score (ASDAS-CRP) at month 3. The secondary endpoints were the proportion of subjects achieving ASDAS<1.3 and ASDAS<2.1, Bath AS functional index (BASFI) and CRP. All subjects in the study were evaluated for safety. T test, χ2 test and rank sum test were used for satistical analysis. Results One thousand two hundred and seventy subjects with ERA were studied. The difference between the baseline and month 3 after treatment in SDAI, CDAI, DAS28-CRP were 26 ±16, 23 ±15, 1.86 ± 1.01 respectively (P<0.01). The above parameters 6 months after treatment were similar to those at 3 months after treatment, which demonstrated the persistence of drug efficacy. Two thousand three hundred and twenty eight subjects of SpA were studied. The difference between the baseline and 3 months after treatment in ASDAS, BASFI was 2.6 ±1.7, 3.4 ±3.8 respectively (t=73 .54, t=42 .36, P<0.01). The overall incidence of adverse events was 8.03%(289/3 598), including the common adverse events such as injection site reactions, skin rash and elevated liver enzyme levels. Adverse events were improved after proper treatment, without severe infections and tumor. These data confirmed that the overall safety of rhTNFR: Fc was good. Conclusion The study confirms that rhTNFR: Fc is effective for the treatment of ERA and SpA, and it is safe and well-tolerated.

Objective To investigate the incidence of anxiety and depression in hospitalized patients with chronic obstructive pulmonary disease( COPD) ,and to analyze the related factors that affect the occurrence of anxiety and depression in patients with chronic obstructive pulmonary disease.Methods In the observation group and control group,the anxiety and depression were assessed,and the influencing factors of the patients with depression were ana-lyzed.Results In the observation group,the patients with anxiety and depression (38.03%) were significantly more than the control group (23.08%),and the difference was statistically significant (χ2 =4.28,P<0.05).The multi-variate logistic regression analysis showed that sex,course of disease,degree of culture,social support and self rated health status of five variables on COPD depression effects were statistically significant ( OR=0.413,1.534,2.651, 1.673,2.442,all P <0.05).Conclusion There is higher incidence of anxiety and depression in patients with COPD.Gender,COPD duration,education,social support and self rated health status are the important factors influen-cing the anxiety and depression of the patients.

OBJECTIVE:To prepare betamethasone gel and establish its quality control method. METHODS: Orthogonal experiment was carried out to optimize the formula of the base material and design the formula technology of betamethasone gel. The content of betamethasone in the gel was determined by UV-spectrophotometry with its stability investigated through centrifugalization,thermostabilization,cold-resistance and long-term tests. RESULTS: The preparation was off-white semitransparent gel,with its property identification in line with the standard specified in Chinese Pharmacopeia (2005 edition). The linear range of betamethasone was 6～36 ?g?ml-1 (r=0.999 9) and its average recovery rate was 98.88% (RSD=0.57%). The stability tests revealed no stratification of the gel. CONCLUSION: The preparation process is simple and the preparation is stable and controllable in quality.

To study the relationship between HLA DRB1*07 and the susceptibility to HBV in the Han nationality in Guangdong Province. 100 chronic HBV carrier individuals, 21 HBV spontaneously cleared individuals and 70 HBV unexposed individuals all of Han nationality in Guangdong Province were entered in this study. The expression of HLA DRB1*07 alleles were detected by polymerase chain reaction sequence specific primer, and IFN ? and IL 4 levels in plasma of HBV chronic carrier individuals were measured by using ELISA kits. The results showed that the positive rate of HLA DRB1*07 in chronic HBV carriers was 30%, which was markedly higher than that in HBV spontaneously cleared individuals(4 76%) and HBV unexposed individuals (8 5%) as well ( P

Objective To study the changes of interferon ( IFN )- γ ,interleukin(IL)-4 and IL-6 in endometriosis. Method The levels of peripheral blood IFN-γ ,IL-4 and IL-6 in 25 patients with endometriosis (EM group) and 20 normal adults (control group) were detected by enzyme linked immunosorbent assay (ELISA). Results The level of peripheral blood IFN- γ in EM group [(109.64±26.79 ) ng/L] was lower than that in control group [(155.17±30.36) ng/L] (P ＜ 0.05 ), IL-4[(33.52 ± 8.69)ng/L]and IL-6 [(44.12 ± 3.57) ng/L] were higher than those in control group [(22.52 ± 6.54), ( 15.12 ±2.63 )ng/L](P＜0.05 ).The ratio of IFN-γ/II-4(3.27±1.45 ) and IFN- γ/IL-6 ( 1.15 ± 0.56 ) in EM group were significantly lower than those in control group (6.89 ±1.68,2.54 ±1.03)(P ＜0.01 or ＜0.05).Conclusions Th1 cells shift toward Th2 cells in patients with endometriosis. Th1/Th2 ratio may be correlated with the pathogenesis of endometriosis.

Cancer molecular epidemiology focus on distribution and pathogenesis of tumor markers in high-risk populations and cancer patients.Cancer molecular epidemiology tries to open the "black box" and to elucidate the nature of cancer through the measurement and evaluation of exposure and response to carcinogens and individual genetic susceptibility,involving the fields of etiology,preventive medicine and clinical medicine.We need rigorously strengthen the design and implementation of cancer molecular epidemiology,the research and application of TM should enhance the principles of quality,evidence and ethics.With the utility of new subject tools such as proteomics,cancer molecular epidemiology which combines the advantages of multi-subjects is now quickly changing.

Objective To investigate the usefulness of calcium and phosphorus supplementation in parenteral nutrition for extremely low-birth-weight (ELBW) infants.Methods According to the inclusion criteria,66 ELBW infants hospitalized after birth in neonatal ward of Tongji Hospital from June 2009 to December 2012 were divided into three groups with random number table:28 infants in the first group were treated with parenteral nutrition without calcium and phosphorus supplementation,21 infants in the second group were treated with parenteral nutrition with calcium supplementation only,and 17 infants in the third group was treated with parenteral nutrition with calcium and phosphorus supplementation.The blood levels of ionic calcium,blood phosphorus,and urine calcium and creatinine were determined once a week (total of 4 times).The speed of sound (SOS) was detected for shin bones by quantitative ultrasound at the date of admitting and the end of 4weeks.Results After administrations of supplementation,the blood levels of ionic calcium in the second group were significantly higher than those in the first group [on the 14th day,(1.82 ± 0.35) mmol/L vs.(1.14 ±0.47) mmol/L,t=5.800,P=0.005;onthe21stday,(1.77±0.45) mmol/Lvs.(1.07±0.43) mmol/L,t=5.492,P=0.004; on the 28th day,(1.61±0.58) mmol/Lvs.(0.92±0.44) mmol/L,t=4.556,P=0.025].The blood levels of ionic calcium in the third group were also significantly higher than those in the first group [on the 14th day,(1.55 ± 0.30) mmol/L vs.(1.14 ± 0.47) mmol/L,t =3.570,P =0.001 ; on the 21st day,(1.58 ±0.38) mmol/L vs.(1.07 ±0.43) mmol/L,t =4.151,P=0.000; on the 28th day,(1.55 ±0.35) mmol/L vs.(0.92 ±0.44) mmol/L,t =5.302,P =0.003].The blood levels of phosphorus were significantly elevated in the third group compared with those in the first group [on the 14th day,(1.86 ±0.10) mmol/L vs.(1.65 ±0.17) mmol/L,t=5.217,P=0.012; on the21st day,(1.88 ±0.14) mmol/Lvs.(1.61 ±0.13) mmol/L,t =6.442,P=0.003; on the 28th day,(1.89 ±0.15) mmol/L vs.(1.58 ±0.14) mmol/L,t =6.891,P =0.000] and the second group [on the 14th day,(1.86 ± 0.10) mmol/L vs.(1.53 ±0.15) mmol/L,t =8.100,P=0.000; on 21st day,(1.88 ±0.14) mmo/Lvs.(1.57 ±0.14) mmol/L,t =6.787,P =0.000; on the 28th day,(1.89 ± 0.15) mmol/L vs.(1.62 ± 0.18) mmol/L,t =5.043,P =0.000].The calcium-to-phosphorus ratios markedly increased in the second group compared with those in the first group (on the 14th day,0.69 ±0.18 vs.0.33 ±0.14,t =7.601,P =0.000; on the 21st day,0.66±0.16 vs.0.37 ±0.14,t =6.62,P=0.001 ; on the 28th day,0.62 ±0.15 vs.0.39 ±0.12,t =5.776,P =0.005) while declined in the third group (on the 14th day,0.14 ± 0.10 vs.0.33 ± 0.14,t =5.294,P =0.010; on the 21st day,0.13 ± 0.12 vs.0.37 ± 0.14,t =6.102,P =0.002; on the 28th day,0.12 ± 0.11 vs.0.39 ± 0.12,t =7.711,P =0.000).The third group showed significantly increased SOS values than those in the first and second groups [(381 ± 87) m/s vs.(135 ± 87) m/s,t =9.815,P =0.000;(381 ±87) m/s vs.(146 ±68) m/s,t =9.774,P=0.000].Conclusions Proper supplementation of calcium and phosphorus via parenteral nutrition can achieve increased bone mineral contents and stable blood ionic calcium and phosphorus levels,and avoid hypercalciuria in ELBW infants.PN therapy with calcium and phosphorus supplementation in ELBW infants needs further studies.

A model system which simulated the conditions of the human stomach was used in the experiments. Precursors NaNO2 and MNG formed MNNG and resulted in the positive mutagenic response to Salmonella typhimurium TA 100. When the concentration of the precursors was 50 mM NaNO2 and 100 mM MNG, the induced average number of revertant per plate was 4327 showed an approximate twenty fold spontaneous revertants. With diluting of the precursors, the mutagenic response was lower, showing a dose-response relationship between the mutagenic activity and the precursors concentration. It was found that, when precursor concentration was lower than 22.2 mM NaNO2 and 44.4 mM MNG, the formation of MNNG was blocked completely by the Chinese Kiwi fruit juice and mutation was inhibited. In the same concentration without the Chinese Kiwi fruit juice, the induced revertant was an approximate 13 fold of the spontaneous revertant. The Chinese Kiwi fruit could not block the formation of the MNNG when the precursors concentration was higher than 33.3 mM NaNO2, but it inhibited the mutagenic activity partly. Compared with the Chinese Kiwi fruit juice, the effect of the ascorbic acid solution in the same concentration was much less.It was demonstrated with TLC that MNNG was formed in the model system.