Congenital Abnormalities ; genetics ; Gene Dosage ; Genome, Human ; Humans

Arrhythmias, Cardiac ; etiology ; Cardiovascular Abnormalities ; etiology ; physiopathology ; Child ; Heart Function Tests ; Heart Septal Defects, Ventricular ; etiology ; Humans ; Postoperative Care ; Postoperative Complications ; Prognosis ; Pulmonary Valve Insufficiency ; etiology ; Tetralogy of Fallot ; surgery ; Time Factors ; Ventricular Outflow Obstruction ; etiology

During aging, cardiac contractile response to β-AR stimulation is decreased in humans and animal models. Recent studies demonstrate that the positive inotropic effects of both β1-AR and β2-AR stimulation are significantly decreased with aging.This is accompanied by decreases in both β-AR subtype densities and a reduction in membrane adenylyl cyclase activity. However,neither G protein-coupled receptor kinases (GRKs) nor inhibitory G proteins (Gi) appears to contribute to the age-associated reduction in the β-AR modulation of contraction. Thus, while both aging and chronic heart failure exhibit a diminution in cardiac β-AR responsiveness, only heart failure exhibits increased GRK-mediated desensitization ofβ-Ars and an upregulation of Gi proteins.

Heart Defects, Congenital ; metabolism ; Humans ; Natriuretic Peptide, Brain ; metabolism

Tanshinones, the main bioactive compounds of Salvia miltiorrhiza, are the diterpenoid pigments, multiple genes were proved to be involved in their biosynthesis in plants. CYP76AH1 is the initial P450 gene in the tanshinones biosynthetic pathway, its function has been validated by yeast expression and in vitroenzymatic reaction. In order to clarify the function of CYP76AH1 in vivo, in this study, we constructedthe RNA interference of CYP7AH1 in S. miltiorrhiza hairy root. The RNA interference vector with a hairpin structure was constructed using the Gateway technology, and then the interference fragment was integrated into the genome of S. miltiorrhiza mediated by Agrobacterium rhizogenes. Several highly CYP76AH1 interference S. miltiorrhiza hairy roots were obtained for further analysis.
Agrobacterium ; genetics ; metabolism ; Biosynthetic Pathways ; Cytochrome P-450 Enzyme System ; genetics ; metabolism ; Diterpenes, Abietane ; biosynthesis ; Gene Expression Regulation, Plant ; Plant Proteins ; genetics ; metabolism ; RNA Interference ; Salvia miltiorrhiza ; genetics ; metabolism ; microbiology

Child, Preschool ; Echocardiography, Transesophageal ; methods ; Heart Septal Defects, Ventricular ; diagnostic imaging ; therapy ; Humans ; Male

The aim of this research is to investigate the influence of microencapsulation on the expression of the oxidative stress genes and exogenous regulation of HepG2 cells. We compared the expression of hemeoxygenase-1 (HO-1) and glutathione S-transferases-A1 (GST-A1) in HepG2 cells under different culture conditions through real-time PCR. The effects of exogenous antioxidants on cell viability and albumin levels were also evaluated through MTT assay and ELISA assay. The results showed that after culturing for 6 and 16 days, the expression levels of HO-1 in encapsulated cells were approximately 4.9 and 3.1 times higher than that of monolayer cells at the same culture period; As for the expression levels of GST-A1, they were elevated to 11.2 and 33 times of monolayer cells (P < 0.05). Accordingly, we found that NAC at 5-10 mmol/L significantly increased the viability by 40%-70% and the biosynthetic function by 20%-30% in microencapsulated HepG2 cells (P < 0.05). GSH increased the viability of the encapsulated cells by 20%-55% and the biosynthetic function by 15% (P < 0.05). In conclusion, oxidative stress exists in the microcapsules and affects genes expression. Exogenous antioxidants can prevent the inhibition effects of oxidative stress on cellular growth.
Antioxidants ; pharmacology ; Cell Survival ; Gene Expression Regulation ; Glutathione Transferase ; metabolism ; Heme Oxygenase-1 ; metabolism ; Hep G2 Cells ; Humans ; Oxidative Stress

Background Benign lymphoepithelial lesion of lacrimal gland is not a common orbital disease in clinic,which mainly presented as symmetrical and painless enlargement of bilateral lacrimal glands.However,the etiology and pathogenesis of this disease is still unclear now.Objective This study was to screen the differentially expressed genes between benign lymphoid epithelial lesion of lacrimal gland and orbital cavernous hemangioma and explore the pathogenesis of benign lymphoepithelial lesion of lacrimal gland at the molecular level.Methods Nine patients diagnosed as benign lymphoepithelial lesion of lacrimal gland in Beijing Tongren Hospital,Capital Medical University were enrolled from September 2010 to April 2013,and nine patients with orbital cavernous hemangioma served as control group.The intraorbital tissue was collected during surgery.Whole-genome gene expression microarray was used to detect the expressed genes,and limma algorithm was used to analyze the differentially expressed genes between the benign lymphoepithelial lesion of lacrimal gland and the orbital cavernous hemangioma.Real-time PCR was used to verify differentially expressed genes,Fisher method and gene ontology (GO) functional analysis were performed to realize function and signaling pathways analysis.This study complied with Helsinki Declaration and the protocol was aproved by Institutional Review Board of Beijing Tongren Hospital,and informed consent was obtained.Results Total 5 260 differentially expressed genes were screened between benign lymphoepithelial lesion of lacrimal gland and orbital cavernous hemangioma.The Fisher function and signaling pathways analysis showed that 109 GO terms were significantly upregulated and 101 GO terms were significantly downregulated,and 32 relevant signaling pathways were significantly upregulated and 25 signaling pathways were significantly downregulated in the benign lymphoepithelial lesion of lacrimal gland.GO analysis showed that the expression enrichment of complement receptormediated signaling pathway was high,then following the upregulation of T cell and B cell signaling pathways and downregulation of mitogen-activated protein kinase (MAPK) and transforming growth factor-β (TGF-β) signaling pathways.Real-time PCR results showed that the expressions of TIPRL,TLR7 and TLR10 genes were significantly higher in the benign lymphoepithelial lesion of lacrimal gland than that in the orbital cavernous hemangioma,with significant differences between the two diseases (Z =-2.03,-2.32,-2.32;all at P＜0.05),which was consistent with the microarray data.Conclusions Gene expression profiles are significantly different between benign lymphoepithelial lesion of lacrimal gland and orbital cavernous hemangioma.Those differentially expressed genes play roles in the upregulation of T cell and B cell signaling pathways,downregulation of MAPK and TGF-β signaling pathways and the change of complement system.It is implied that a comprehensive effect of various genes and pathways participates in the pathogenesis of benign lymphoepithelial lesion of lacrimal gland.

Objective To investigate clinical phenotype and the characteristics of gene mutation of patients with spinocercbellar ataxia type 2 and type 3.Methods The trinucleotide repeat mutations were detected by polymerase chain reaction (PCR),fluorescence-PCR and capillary electrophoresis in 9 patients and 43 members from 4 spinocerebellar ataxia families,1 sporadic patients,and 60 normal controls without family history.Results Six patients from 3 families and one sporadic patient had SCA3/MJD (CAG) n expansion mutation(n=68-75) ;Three patients from 1 family had SCA2 allele expansion for 37-41 times. Some of clinical menifestations were same among patients with type 2 or 3,while they showed significant difference in age of onset ,disease devetopment and nervous system injury.Conclusion The difference of clinical feature helps to distinguish SCA3/MJD and SCA2,however genotype analysis is the only method of definite diagnosis.

Objective To describe the understanding level of disease of children with leukemia and their ways of obtaining disease information in order to help nurses and parents to select appropriate content and manners to communicate with children about disease information.Methods In-depth interviews were conducted with 25 children' parents using a descriptive qualitative research method,and the data were analyzed using content analysis.Results Children during remission stage of leukemia had different understanding levels of their disease.Ways of children with leukemia to obtain disease information was correlated with their mental maturity.Conclusions Disease information should be told according to children's age,disease course and level of thinking,and health professionals and parents could provide appropilate ways of obtaining information for children on basis of their mental maturity.