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Background: Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism (SNP) scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population., Methods: One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method., Results: The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect (P = 0.0037) by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect (P = 0.05, multiple loci regression analyses based on reconstructed haplotype blocks)., Conclusions: TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.

Objective: To evaluate the diagnostic value of MRI in the cases suspected of ventriculomegaly by prenatal ultrasonography., Methods: 104 patients of suspected fetal ventriculomegaly (VM) diagnosed by ultrasonography were included from the Shengjing Hospital, China Medical University from March 2006 to October 2007. All cases were divided into 4 groups based on the standard of Gaglioti: 10 - 12 mm (66 cases), 13 - 15 mm (22 cases), 16 - 20 mm (14 cases), and 21 - 25 mm (2 cases); they included 75 cases of single intracerebroventricular expansion and 29 cases of double intracerebroventricular expansion. All of them were subjected to MRI scan within 48 h of ultrasonographic examination to determine the prenatal diagnosis by MRI pregnancy outcomes., Results: Among the 26 072 cases who received prenatal ultrasonography, 104 cases (0.39%) were VM. (1) MRI detected 3 cases (5%) in 10 - 12 mm group: one case of cerebellar hypoplasia, vascular malformation, chest and abdominal anomalies each; 5 cases (23%) in 13 - 15 mm group: one case of agenesis of corpus callosum (ACC), cerebral hemorrhage, cerebral hemorrhage with cerebral meningocele, cerebral meningocele, intracranial mass meningocele each; 6 cases(43%)in 16 - 20 mm group: 4 cases of ACC, one case of intraventricular hemorrhage and ACC combined with ventricular hemorrhage each; 2 cases in 21 - 25 mm group: one case of ACC and intraventricular hemorrhage each. (2) MRI detected 4 cases (5%) among 75 unilateral VM cases and 12 cases (41%) among 29 bilateral VM cases. The differences were significant (P < 0.01). MRI diagnosis rate was 15.38% (16 cases). Follow-up of the outcomes of the pregnancy showed induction of labor in 15 cases (14%) all of which were the same as MRI results on autopsy, full-term delivery of 88 cases, of which all the neonates were healthy., Conclusions: When the expansion width is above 16 mm or bilateral VM is suspected by ultrasonography, we suggest MRI examination to determine fetal central nervous system disease.

Objective: To investigate the mechanisms of intestine absorption of astragaloside IV in rat., Method: The K(a) and P(app) of astragaloside IV was investigated using single-pass intestinal perfusion technique in rats. HPLC was used to determine the concentration of astragaloside IV. The effect of absorption site, drug concentration and the inhibitors of P-glycoproteon on the absorption had been studied., Result: By the testing of the statistics, the K(a) and the P(app) values of the duodenum, jejunum, ileum, colonic had significant differences (P < 0.05). The concentration from 20-80 mg x L(-1) had no distinctive effect on the K(a) and P(app) of small intestine. The inhibitors of P-glycoproteon had no distinctive effect on the absorption of small intestine., Conclusion: Astragaloside IV is absorbed by typical passive diffusion mechanism.