Congenital cardiovascular anomalies are present in approximately 80％ of children with 22q11.2 deletion syndrome.Three genes in chromosome 22q11.2 ( TBX1,CRKL,and ERK2 ) have been identified whose haploinsufficiency causes anomalies of 22q11.2 deletion.The most common diseases are conotruncal anomalies,which include tetralogy of Fallot ( TOF),pulmonary atresia with ventricular septum defect (PA-VSD),truncus arteriosus,and interrupted aortic arch.In major phenotypes,a high prevalence of the deletion is noted in patients with TOF with pulmonary atresia,TOF associated with pulmonary atresia and major aortopumonary collateral arteries,persistent truncus arteriosus,and type B interruption of aortic arch.In minor phenotypes,right aortic arch,aberrant subclavian artery,and major aortopulmonary collateral arteries are frequently associated with cardiovascular anomalies associated with 22q11.2 deletion.In conclusion,conotruncal anomaly associated with aortic arch and branch anomalies should increase the suspicion of 22q11.2 deletion.

creased maternal serum adiponectin level may be involved in the pathogenesis of pre-eclampsia and also may contribute to the reduced expression of adiponectin in the omental adipose tissue.

The paper introduces the design idea of physical examination system in students recruitment of colleges and universities in Beijing Physical Examination Center, elaborates the functions of personnel examination, department examination, test results input, query statistics, etc.The application of this system could improve the quality of physical examination work, management level and work effi-ciency, summarizes the effect of informatization management in Beijing Physical Examination Center.

Objective To investigate the effects of T-2 toxin on testosterone biosynthesis in primary cultured Leydig cell derived from the mouse testis.Methods Leydig cells isolated from Kunming male mice were adjusted to 5?105/ml and the purity was identified by the modified 3?-hydroxysteroid dehydrogenase(HSD) staining method.Blank control group(treated with 0 ng/ml hCG and 0 mol/L T-2 toxin),inductive control group(treated with 10 ng/ml hCG and 0 mol/L T-2 toxin),low dose T-2 toxin exposure group(treated with 10 ng/ml hCG and 10-9 mol/L T-2 toxin),middle dose T-2 toxin exposure group(treated with 10 ng/ml hCG and 10-8 mol/L T-2 toxin) and high dose T-2 toxin exposure group(treated with 10 ng/ml hCG and 10-7 mol/L T-2 toxin) were designed,respectively.The testosterone level was measured after 24 h of incubation.Results After 24 hours culture in liquid medium contained serum,the fresh isolated Leydig cells grew well and the purity exceeded 90%.Through 10 ng/ml hCG induce,the testosterone level of Legdig cells increased significantly and the difference compared to blank control was of statistical sense(P

Objective To explore the effect of transcranial magnetic stimulation (TMS) on gross motor function for children with cerebralpalsy. Methods 80 children with cerebral palsy treated in our hospital during July 2009 to January 2010 were divided into control group(n=40) and observation group (n=40). The control group received conventional treatment, including physical therapy, massage, scalp acupuncture,body acupuncture, point injection, physiotherapy and medication. The observation group received TMS in addition. The therapeuticeffects were compared using the Gross Motor Function Measure-88 (GMFM-88) after 3 months. Results The percent scores of all the domainssignificantly increased in both groups (P<0.05) after treatment, the increased percent scores of observation group in B domain, D domain,E domain and total were higher in the observation group than in the control group (P<0.05). Conclusion TMS can further improve thegross motor function of children with cerebral palsy.

Objective: To explore the association of fetal umbilical artery (UA) Doppler blood flow parameters with umbilical vein (UV) serum sEng,nitric oxide (NO) level and the perinatal outcome in patients with preeclampsia(PE). Methods: Color ultrasonography was used to detect the resistive index (RI), pulse index (PI), the peak systolic velocity (Vs), diastolic velocity (Vd) and the peak-systolic/diastolic ratio(S/D) of UA in 39 PE patients(20 cases of mild preeclampsia, 19 cases of severe preeclampsia), 20 cases of normal full-term pregnant women and 20 gestational hypertension(GH) women. The UV serum level of sEng was analyzed using enzyme-linked immunosorbent assay (ELISA). The level of NO was determined using nitric acid recovery, and to analysis of perinatal outcome. Results: Compared with normal pregnancy and GH, levels of S/D, RI, PI and sEng were significantly higher in the mild and severe preeclampsia group(P < 0.05), and levels of Vs, Vd and NO were significantly lower(P < 0.05). There was a negative correlation between the values of PI, RI and S/D with the level of UV serum NO in the mild and severe preeclampsia group(P < 0.05). There was a positive correlation between the values of PI, RI and S/D with the level of UV serum sEng in the mild and severe PE group (P < 0.05). The incidence of perinatal disease was significantly higher in PE (P < 0.05). Compared with normal perinatal infants, the abnormal perinatal infants had obviously higher levels of S/D, RI, PI and sEng (P < 0.05), and lower levels of Vs, Vd and NO(P < 0.05) in PE. Conclusion: The umbilical artery blood flow parameters can reflect the disease condition and fetal status, which has an important clinical value.

Objective To investigate the inhibitory effect of siRNA targeting casein kinase 2 (CK2α)gene on the growth of HCT1 1 6 cells and to clarify its mechanism.Methods CK2α-siRNA sequence was designed according to mRNA sequence of CK2α. The in vitro cultured HCT1 1 6 cells were divided into normal control group (without transfection),negative control group (transfected with siRNA)and CK2α-siRNA group (transfected with CK2α-siRNA ),and the HCT116 cells were transfected with Lipofectamine 2000.The expression levels of CK2α,cyclin H,P53,and P21 proteins in the HCT116 cells were detected by Western blottting method,and the proliferation activities of the HCT116 cells were detected by MTT method,and the cell cycle was measured by flow cytometry. Results Compared with negative control group,the expression levels of CK2α,and cyclin H proteins in CK2α-siRNA group were decreased(P<0.01);the expression level of P53 protein had no change dramatically(P>0.05), and the expression level of P21 protein was increased significantly(P<0.01).Compared with negative control group,the survival rate in CK2α-siRNA group was decreased markedly 48 and 72 h after transfection detected by MTT method(P<0.01).Flow cytometry analysis showed the percent of the cells at G1 phase in CK2α-siRNA group was significantly higher than that in negative control group and the percent of the cells at S phase in CK2α-siRNA group was lower than that in negative control group(P<0.01),and the cell cycle was arrested at G1 phase. Conclusion siRNA targeting CK2αcan inhibit the proliferation of HCT116 cells and induce the arrest of G1 phase, which may be associated with inhibiting the expression of cyclin H and recovering the P53 activity after silencing CK2α.

0. 05). When reperfusion time was prolonged, the level of NO in the experiment group was decreased gradually and was lower than that in control group (P

ObjectiveTo explore the influence of the cigarette smoke in the airway inflammation and pulmonary function of the asthmatic patients. MethodsTwenty-five cases of asthmatic patients with cigarette smoke exposure, 22 cases of asthmatic patients without cigarette smoke exposure and 20 cases of normal control persons were involved in this study. The proportion of various inflammatory cells in the induced sputum, the levels of serum interleukin (IL)-8 and IL-4 and lung function (FEV1％ expected value,FEV1/ＦVC％ ) were detected. ResultsThe infiltrating of neutrophils was primarily found in sputum of the asthmatic patients with cigarette smoke exposure, but the infiltrating of eosinophils was mainly in sputum of the asthmatic patients without cigarette smoke exposure. The levels of serum IL-8 and IL-4 of peripheral blood of asthmatic patients with cigarette smoke exposure[(277.02 ±71.37), (171.69 ±31.01) ng/L] were significantly higher than those in asthmatic patients without cigarette smoke exposure[(158.88 ± 21.95 ),( 111.42 ± 21.69 ) ng/L] and normal control persons [( 116.78 ± 71.37 ), (73.94 ± 15.72 ) ng/L] (P ＜ 0.01 ).The FEV1％ expected value and FEV1/FVC％ of the asthmatic patients with cigarette smoke exposure [(51.12 ± 13.30) ％, ( 49.16 ± 11.09 )％] was lower than those of asthmatic patients without cigarette smokeexposure [(81.81 ± 5.82)％, (79.00 ± 3.86)％] and normal control persona [(95.50 ± 10.11 )％, (83.18 ±6.04)％] (P ＜ 0.01 ). The level of serum IL-8 was positively correlated to the neutrophils percentage in the induced sputum (r =0.742,P＜ 0.01 ) ,while negatively correlated to the FEV1％ expected value(r =-0.739,P ＜ 0.01 ). ConclusionCigarette smoke may influence the airway inflammation of the asthmatic patients and accelerate the deterioration of their lung function by promoting the producing of IL-8.

Objective　To introduce clinical diagnostic specificity of hepatocellular carcinoma (HCC) with serum AFP level in 21μg/L to 200μg/L. Methods　Making a literature summarizaton based on the papers review.Results and Conclusions　(1) The AFP level more than 20μg/L can be used as a diagnostic criteria of HCC when existing liver space occuping lesion (SOL). (2) The clinical diagnostic criteria using AFP level more than 20 μg/L instead of more than 200 μg/L would be helpful to avoid misdiagnosis of HCC with the AFP level in 21 μg/L to 200 μg/L. (3) The Combination of AFP level more than 20 μg/L with ultrasonography, CT scanning would have higher sensitivity and specificity than single diagnostic method.