Objective · To explore the correlation between variants located in 3' untranslated regions (3'UTR) of NOTCH1 and JAG1 genes and conotruncal heart defects (CTD). Methods · Six hundred CTD children without 22q11 deletion and three hundred healthy children were enrolled in this hospital-based case-control study. Variants located in the 3'UTR regions of NOTCH1 and JAG1 genes were detected by high-throughput sequencing. The accuracy of the variants were verified by PCR and Sanger sequencing. Online software PicTar, TargetScan and microRNA.org were used to make functional predictions. Results · One mutation and three SNPs were found in the 3'UTR of NOTCH1. Three mutations and six SNPs were found in the 3'UTR of JAG1. The genotypic distributions of two SNPs (rs3840074 and rs8708) located in JAG13'UTR between CTD group and the controls were statistically significant (both P<0.05). Results of prediction showed that all the four mutations and two meaningful SNPs could bind to microRNA. Conclusion · The variants located in 3'UTR regions of NOTCH1 and JAG1 genes may be related to the occurrence of CTD.

ly) and healthy controls respectively. Anti-CⅡ antibody positive group showed higher prevalence rate of rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibody (anti-CCP) (83.3%, 90.5%) than those of anti-CⅡ negative group (43.7%, 52.1%, P

Abdominal Neoplasms ; etiology ; genetics ; Adolescent ; Chromosome Aberrations ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; complications ; genetics ; Male ; Sarcoma, Myeloid ; etiology ; genetics

Objective To investigate the phosphorylation of tau protein and the effect of atorvastatin on tau protein phosphorylation in hypercholesteremic mouse hippocampus. Methods Male Kunming mice were randomly divided into normal control group, hypercholesteremia group, and low-dose atorvastatin treatment group (8mg·kg-1·d-1), middle-dose group (15mg·kg-1·d-1),and high-dose group (20mg·kg-1·d-1) with five mice in each group. The hypercholesteremia mouse model was induced by cholesterol-enriched diets. The expression level of tau protein phosphorylation in mouse hippocampus was detected by Western blot and immunohistochemistry methods. The activities of mitogen-activated protein kinase (MAPK) and cyelin dependent kinase 5 (Cdk-5) were measured by liquid scintillation counting of the hippocampus incorporated radioactivity and immunoprecipetation activity assay respectively. Results In hypercholesteremic group, the expression level of tau protein phosphorylation in mouse hippocampus was significantly increased(F=14.761,P＜0.01)as compared with control group, and so were MAPK activity and Cdk-5 activity(all P＜0.01). Atorvastatin treatment group showed the decreased expression level of tau protein phosphorylation at ser396/404 site in low-dose group (F=6.349,P＜0.05),middle-dose group (F=10.283,P＜0.01) and high-dose group (F=10.511,P＜0.01) as compared with hypercholesteremia mouse group. The activities of MAPK and Cdk-5 were decreased along with the increasing atorvastatin doses. Conclusions Hypercholesteremia induces tau protein hyperphosphorylation in mouse hippocampus. Abnormal cholesterol metabolism may play an important role in the pathology process of neurodegeneration in brain. Atorvastatin might inhibit tau protein hyperphosphorylation by inhibiting the activations of MAPK and Cdk-5 in brain, atorvastatin may have the protect effect for tau protein.

Objective To evaluate the image quality of dynamic three-dimensional contrast enhanced ultrasonography(3D-CEUS) in liver tumors.Methods Twenty-five patients were examed with 2D-CEUS and dynamic 3D-CEUS.Contrast-enhanced computed tomography or magnetic resonance imaging(CECT/MRI) were performed early or late.Two readers reviewed the images of both modalities and graded the images according to diagnostic criteria as follows:tumor blood fusion in arterial phase(unclear-score 0,moderate-score 1,clear-score 2),tumor boundry and relationship with periphery tissues (unclear score 0,moderate-score 1,clear-score 2).The concordance between the two modalities for showing liver tumors was evaluated by Kappa test.Results Twenty-three of 25 danymic 3D-CEUS were displayed successfully versus total objects in CECT/ MRI.Among them,for showing blood fusion,16 lesions scored 2,7 lesions scored 1,2 lesions scored 0 in danymic 3D-CEUS,meanwhile 18 lesions scored 2,7 lesions scored 1,0 lesion scored 0 in CECT/MRI,the Kappa value was 0.65.For showing tumor boundry and relationship with peripherytissues,16 lesions scored 2,7 lesions scored 1,2 lesions scored 0 in danymic 3D-CEUS,meanwhile 21 lesions scored 2,4 lesions scored 1,0 lesion scored 0 in CECT/MRI,the Kappa value was 0.52.Conclusions Danymic 3D-CEUS was shown to be useful for displaying tumor blood fusion,boundry and relationship with periphery tissues in single liver tuomor,the concordance between dynamic CEUS and CECT/MRI for single liver tuomor was fair.For huge liver tumor and multi-tumors,3D-CEUS can not give overall information.

Objective To evaluate the effectiveness of intratracheal injection of pulmonary surfactant (LISA) combined with continuous positive airway pressure (CPAP) on the treatment of neonatal respiratory distress syndrome (RDS). Methods The databases of PubMed, EMBASE, Cochrane, China National Knowledge Infrastructure (CNKI), Wanfang Database, Weipu Database and China Biology Medicine disc (CBM) were searched, and all of the randomized controlled trial of LISA combined with CPAP for treatment of RDS were included. RevMan 5.2 was used to perform meta-analysis. The differences of mortality, bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), and other complications between LISA group and control group were compared in <34 weeks gestational age preterm infants with RDS. Results Five randomized controlled trials were included with 759 infants in total. Compared with control group, the rate of mechanical ventilation (RR: 0.32,95% CI: 0.13-0.82) and the incidence of BPD (RR: 0.61,95%CI: 0.42-0.88) were significantly decreased in LISA group. There were no differences in mortality and the incidences of ROP, IVH, and PVL between two groups (P>0.05). Conclusion The mechanical ventilation and the incidence of BPD is significantly reduced in the treatment of neonatal respiratory distress syndrome by LISA, but it has no effect on the incidences of other complications and mortality.

Objective The study aimed to investigate the effect of lipoxin A4 (LXA4) on lipopolysaccharide (LPS)?induced oxidant stress in human renal tubular epithelial cells (HK2 cells) and possible underlying mecha?nisms. MethodsHK2 cells were divided into three groups: Control ,LPS and LPS+LXA4 groups. After cells were treated with indicated conditions,morphological changes were observed. The expressions of Nrf2 were detected by immunofluorescence and cells were collected for RT?PCR experiments.Results HK2 cells seemed disrupted and necrotic with the administration of LPS. However ,LXA4 could prevent cells from injury induced by LPS. LPS decreased Nrf2 expression and promoted it to translocate to cytoplasm ,while LXA4 could increase its expression and promote it to translocate to nucleus. Moreover ,LPS could decrease Nrf2 and its downstream molecule mRNA expressions,but LXA4 could reverse this effect. Conclusion Our results demonstrated that LXA4 effectively inhibit?ed HK2 cell oxidant stress via Nrf2 pathway.

Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects (CHDs) in Shaanxi Province, China. children and their parents. The univariate and multivariable logistic regression models were used to analyze the influence of risk factors related to parents' lifestyle on CHDs. Results Several possible risk factors were found for CHDs, including fever (OR=4.465, P=0.017), pesticides contact (OR=2.234, P=0.083), passive smoking during pregnancy (OR=20.529, P=0.007) and father's smoking (OR=3.342, P=0.005); fever (OR=2.428, P=0.012) and passive smoking during pregnancy (OR=1.201, P=0.037) were also correlated with ventricular sepal defect (VSD). Conclusion Fever, pesticides contact and passive smoking are associated with CHDs during pregnancy. We should focus our attention on health care during pregnancy to avoid the above-mentioned risk factors and call on parents to hold on to a good healthy lifestyle.

Objective To analyze the Brucellosis incidence and to predict the trends of the disease in Shanxi province and the national in recent years,which could provide the reference for surveillance,prevention and control of the disease.Methods Brucellosis data which was reported monthly during January 2006 and December 2010 in Shanxi province and the data released by Chinese Center for Disease Control and Prevention during January 2005 and December 2010 were collected.Several indexes,such as the annual increasing number,the development rate,growth rate and other indicators were applied to compare Shanxi province with the national Brucellosis epidemic in recent years.What's more,the seasonal autoregressive integrated moving average model (ARIMA) was fitted respectively with the data of Brucellosis incident number reported monthly,so as to predict the prevalence status in the coming two years by verifying the fitting effect.Results Brucellosis prevalence of Shanxi province reached the peak in 2008,and the incidence number was 5397,which was 900 more than 2007.From the onset of decline after 2008,the prevalence decreased by 17.67％ (906/5128) in 2010.However,national incidence of Brucellosis kept increasing before 2009 and the prevalence increased rapidly from 2007 to 2008,and the growth rate reached 39.16％ (8442/21 560).Although the number of Brucellosis fell by 2041 cases in 2010 than in 2009,the rate of decline was only 5.14％(2041/37 734).The fastigium of Brucellosis was from May to July yearly whether Shanxi province or the country.The ARIMA models of Shanxi province and the nation were ARIMA [(1,0,1)(1,1,0)12] and ARIMA[(1,0,1)(0,1,1)12],respectively,according to the incidence numbers reported monthly.The fitting effect of models showed that the predicted values of the two models were both consistent with the actual situation and all predicted values fell within the 95％ confidence limits,which depicted that they both fitted well.The predicted values depict that the incidence of Brucellosis overall trend was basically stable in Shanxi province,while the numbers in the nation would increase in a small extent in 2011 and 2012.The fastigium of Brucellosis was still from May to July yearly.Conclusions Brucellosis control measures are effective in Shanxi province,incidence of Brucellosis declining.The ARIMA model could predict the number of Brucellosis well,which can provide a valuable reference for the predication and evaluation of Brucellosis epidemic in the future.

Abstract:Objective To detect the expression of hepatic function indices and autoantibodies in patients with chronic hepatitis B patients, patients with autoimmune liver disease and patients with chronic hepatitis B combined with autoimmune liver disease, and to evaluate the clinical significance of autoantibodies and hepatic function indexes in the early diagnosis of chronic hepatitis B combined with autoimmune liver disease.Methods A total of 109 healthy controls (HC), 72 patients with chronic hepatitis B (CHB), 74 patients with autoimmune liver disease (AILD), and 24 patients with chronic hepatitis B combined with autoimmune liver disease (CHB+AILD) in the Fifth People’s Hospital of Suzhou from 2013 to 2021 were enrolled in this study. Basic information and the value of admission hepatic function indexes and autoantibodies were collected for all enrolled samples, while no autoantibody test was performed for healthy volunteers. All data were processed using GraphPad Prism and SPSS software.Results There were no significant differences in age and gender among the four groups. The detection rates of anti-mitochondrial antibody M2 (AMA-M2) and anti-soluble acidic phosphorylated nuclear protein antibody (anti-SP100 antibodies) in CHB+AILD group [29.2%(7/24), 17.4%(4/23)] were significantly higher than those in CHB group [5.1%(3/59), 0(0/59)], suggesting that the detection of these two autoantibodies is helpful to the differential diagnosis of CHB and CHB+AILD. In addition, eight hepatic function indexes displayed significant differences among the four groups. The levels of total bilirubin and direct bilirubin in CHB+AILD group were significantly higher than those in CHB and AILD groups, while the levels of total protein and albumin were significantly lower than those in CHB and AILD groups. Alkaline phosphatase and glutamyltranspeptidase in AILD group and CHB+AILD group were significantly higher than those in CHB group. The logistic regression analysis showed that total bilirubin, direct bilirubin, albumin, alanine aminotransferase and alkaline phosphatase could form a promising prediction model, which was useful for clinicians in the differential diagnosis of CHB and CHB+AILD (area under the curve, AUC=0.902).Conclusion The combination of autoantibody and hepatic function index detection can be helpful for clinicians in the differential diagnosis of CHB, AILD and CHB+AILD, thus contributing to the early and correct diagnosis of CHB+AILD and providing theoretical basis for patients to obtain reasonable treatment and clinical cure earlier.