Investigation of single nucleotide polymorphisms in phosphodiesterase 4D gene in Mongol and Han patients with ischemic stroke in Inner Mongolia.

We investigated single nucleotide polymorphisms (SNP) at 87 sites of the phosphodiesterase 4D (PDE4D) gene in Mongol and Han patients with ischemic stroke in Inner Mongolia. SNPs in 226 patients with ischemic stroke (case group, 110 Mongol patients, 116 Han patients) and 220 patients without neurological disease (control group, 102 Mongol patients, 118 Han patients) were detected by polymerase chain reaction-restriction fragment length polymorphism and gene sequencing. The genotype and allele frequencies of all groups were compared. There were no statistically significant differences in genotypes in the PDE4D gene at 87 sites between the case and control groups (P > 0.05). The C allele frequency in the case group was significantly higher than that in the control group (P < 0.05). The CC genotype and C allele frequencies in the Mongol case subgroup were higher than those in the Mongol control subgroup (P < 0.05). The CC genotype and C allele frequencies in the Han case subgroup were higher than those in the Han control subgroup (P < 0.05). In the case group, there were no significant differences at 87 sites for genotypes and allele frequencies between the Mongol and Han subgroups. In the control group, there were no significant differences at 87 site genotypes and allele frequencies between the Mongol and Han subgroups. The increase in the C allele frequency at 87 SNP sites in PDE4D may increase ischemic stroke risk. We found no differences in the risk between Mongol and Han populations in Inner Mongolia.

Application of 64-slice spiral computed tomography angiography in extremity vascular injuries.

The objective of the current study was to assess the utility of 64-row helical computed tomography angiography (CTA) in the evaluation of extremity vascular traumas. The extremities from 17 clinical cases of suspected traumatic vascular damage were evaluated using 64-row helical CTA. To evaluate extremity vascular traumas using CTA, volume rendering, multiple planar reconstruction, and curved planar reconstruction technology were applied to accurately and rapidly indicate the type and extent of blood vessel damage, as well as any relationship with injuries to adjacent bones, joints, soft tissue swelling, or hematomas. The types of extremity vascular traumas evaluated included damaged arteries, artery spasms or block, blood vessels shifted because of pressure, pseudo aneurysms, arteriovenous fistula, and vein occlusion. The results of the study indicated that 64-row helical CTA could be highly efficient and accurate in the evaluation of extremity vascular traumas, and could aid in making clinical assessments.

Relationship between rs1047763 polymorphism of the C1GALT1 gene and susceptibility to immunoglobulin A nephropathy in Xinjiang Uyghur people.

We explored the relationship between rs1047763, a single-nucleotide polymorphism (SNP) of the C1GALT1 gene, and genetic susceptibility to immunoglobulin A nephropathy (IgAN) in Xinjiang Uyghur people. The study comprised 90 patients with IgAN and 90 normal controls recruited from Uyghur people. The distribution of the rs1047763 polymorphism of C1GALT1 in each group was determined by direct sequencing analysis. The gene type, gene frequency, allele type, and allele frequency were calculated by direct counting and the genotype was investigated using the Hardy-Weinberg equilibrium test. The SPSS17.0 software was used for data processing, and genotype and allele frequencies were compared using the χ2 test. In the IgAN group, the AA, AG, and GG genotype frequencies in the rs1047763 polymorphism of the C1GALT1 gene were 21.10, 47.80, and 31.10%, respectively, while AA, AG, and GG genotype frequencies in the control group were 17.8, 40.0, and 42.2%, respectively. There was no statistically significant difference between the two groups (P > 0.05). The rs1047763 SNP of the C1GALT1 gene probably has no correlation with genetic susceptibility to IgAN in Xinjiang Uyghur people.

Effect of the IkBα mutant gene delivery to mesenchymal stem cells on rat chronic pancreatitis.

This study aimed to investigate the effect of inhibitors of the NF-kΒ alpha mutant gene (IkBaM) delivery to mensenchymal stem cells (MSCs) on rat chronic pancreatitis (CP). A total of 120 Sprague-Dawley rats were randomly divided into 6 groups of 20: Group A was injected with sterile saline solution, Group B was injected with allogenic MSCs, Group C1 was injected with allogenic IkBαM-MSCs cultured in vitro 4 h before CP modeling, Group C2 was injected with allogenic IkBαM-MSCs cultured in vitro during CP modeling, Group C3 was cultured with allogenic IkBαM-MSCs cultured in vitro 4 h after CP modeling, and Group D was injected with rAAV2-MSCs. Cytokine levels of ICAM-1, CTGF, IL-1, IL-6, IL-8, TNF-α, TIMP-1, TIMP-2, IL-10, FN, MMP-1, MMP-2, MMP-3, and MMP-9 were examined. The results indicated that allogenic IκBαM-MSCs could reduce pro-inflammatory cytokine levels and increase anti-inflammatory cytokine levels in CP. The allogenic IkBαM-MSCs reduced the activation and promoted the apoptosis of pancreatic stellate cells in the rat model of CP. IkBαM-MSCs influenced the proliferation and apoptosis of pancreatic stellate cells by regulating the activation of the PPAR, MAPK, mTOR, TGF-ß, NOD-like receptor, Notch, WNT, TGF-ß1-SMAD-2/3, and P53 signal transduction pathways.

Association of NPP1 polymorphism with postoperative progression of ossification of the posterior longitudinal ligament in Chinese patients.

Ossification of the posterior longitudinal ligament (OPLL) is a condition of the spine that can cause paralysis by compressing the spinal cord. The aim of this study was to evaluate the possible role of nucleotide pyrophosphatase phosphodiesterase 1 gene (NPP1) polymorphism in the etiology and pathology of the OPLL in Chinese patients. DNA from patients with OPLL (N = 95) and without OPLL (N = 90) were genotyped for 4 NPP1 single-nucleotide polymorphisms (SNPs): A533C, C973T, IVS15-14T→C, and IVS20-11delT. An association study evaluated the relationship between specific SNP genotypes and susceptibility. We also evaluated whether genotypes of these SNPs were associated with disease severity and the probability of disease progression after surgery. The C973T and IVS15-14T SNPs were associated with the existence of the disease. The TT genotypes of C973T and IVS15→14T as well wild-type IVS20 (lack of deletion) were associated with more severe disease. Patients with the T deletion of IVS20 or the AA genotype of A533C had an approximately 3 times greater chance of not having than having disease progression after surgery. We concluded that the 4 SNPs analyzed appeared to have different effects on the etiology and pathology of OPLL. To our knowledge, this study is the first to investigate the relationship between these SNPs and disease progression after surgery. Our findings suggest that the presence of specific genotypes of the IVS20-11delT and A533C SNPs may predict disease outcome after surgical intervention.