Association of ventricular septal defect with rare variations of the HAND2 gene / 中国当代儿科杂志

OBJECTIVES@#To study the association of ventricular septal defect (VSD) with rare variations in the promoter region of HAND2 gene, as well as related molecular mechanisms.@*METHODS@#Blood samples were collected from 349 children with VSD and 345 healthy controls. The target fragments were amplified by polymerase chain reaction and sequenced to identify the rare variation sites in the promoter region of the HAND2 gene. Dual-luciferase reporter assay was used to perform a functional analysis of the variation sites. Electrophoretic mobility shift assay (EMSA) was used to investigate related molecular mechanisms. TRANSFAC and JASPAR databases were used to predict transcription factors.@*RESULTS@#Sequencing revealed that three variation sites (g.173530852A>G, g.173531173A>G, and g.173531213C>G) were only observed in the promoter region of the HAND2 gene in 10 children with VSD, among whom 4 children had only one variation site. The dual-luciferase reporter assay revealed that g.173531213C>G reduced the transcriptional activity of the HAND2 gene promoter. EMSA and transcription factor prediction revealed that g.173531213C>G created a binding site for transcription factor.@*CONCLUSIONS@#The rare variation, g.173531213C>G, in the promoter region of the HAND2 gene participates in the development and progression of VSD possibly by affecting the binding of transcription factors.

Advance in Rehabilitation for Vestibular Dysfunction after Mild Traumatic Brain Injury (review) / 中国康复理论与实践

Traumatic brain injury (TBI) would result in structural injury and/or physiological disruption of brain. Mild traumatic brain injury (mTBI) can result in vestibular dysfunctions, such as dizziness, vertigo and imbalance. Vestibular rehabilitation is effective on vestibular dysfunction after mTBI. This paper reviewed the possible mechanisms of vestibular dysfunction caused by mTBI, the common assessments of vestibular function and the new progress in vestibular rehabilitation.

Study on expression of Smad1 in gastric adenocarcinoma and its effect on migration ability of gastric cancer cells / 中国免疫学杂志

Objective:To investigate the expression of Smad1 in gastric carcinoma and the influence on the migration ability of gastric cancer cells.Methods:Collected the protein from the gastric cancer tissues and corresponding adjacent tissues,the expression level of Smad1 was detected by Western blot.In HGC-27 gastric cancer cells as the research object,the carrier cells transfected with overexpression of Smad1 (p-EGFP-C1/Smad1) and Smad1 small interfering RNA (Smad1 siRNA),while transfection of p-EGFP-C1 and siRNA control as control.MTT to detect cell proliferation.Cell migration ability was detected with cell scratch test.The expression levels of MMP-9,MMP-2,p-Akt and Akt in ceils were detected by Western blot.Akt signal pathway inhibitor LY294002 (20 μg/ml) in gastric adenocarcinoma ceils,MTT for cell proliferation,cell scratch assay for cell migratior.The expression levels of MMP-9,MMP-2,p-Akt,Akt were detected by Western blot.Results:Smadl in gastric carcinoma was significantly lower than the adjacent tissues (P＜ 0.01).The cell survival rate and migration rate of p-EGFP-C1/Smad1 group were significantly lower than that of p-EGFP-C1 group (P＜0.01).The cell survival rate and migration rate of Smad1 siRNA group were significantly higher than those in the siRNA control group (P＜0.01).The expression levels of Akt protein in P-EGFP-C1,p-EGFP-C1/Smad1,Smad1 siRNA,siRNA control cells did not change.The expression levels of MMP-9,MMP-2 and p-Akt in p-EGFP-C1/Smad1 group were significantly lower than that in p-EGFP-C1 group (P＜0.01).The expression levels of MMP-9,MMP-2 and p-Akt in Smad1 siRNA group were significantly higher than that in control siRNA (P＜0.01).The cell proliferation and migration trends in gastric cancer cells effected by Akt signaling pathway inhibitor consistent with the p-EGFP-C1/Smadl group.Conclusion:Low expression of Smad1 in gastric cancer tissue.Smad1 can inhibit the proliferation and migration of gastric cancer cells,the mechanism of action is related to the Akt signaling pathway.

Association of TCF7L2 and GCG Gene Variants with Insulin Secretion, Insulin Resistance, and Obesity in New-onset Diabetes / 生物医学与环境科学（英文）

This cohort study was designed to evaluate the association of transcription factor 7-like 2 (TCF7L2) and proglucagon gene (GCG) variants with disordered glucose metabolism and the incidence of type 2 diabetes mellitus (T2DM) in a rural adult Chinese population. A total of 7,751 non-T2DM participants ⋝18 years old genotyped at baseline were recruited. The same questionnaire interview and physical and blood biochemical examinations were performed at both baseline and follow-up. During a median 6 years of follow-up, T2DM developed in 227 participants. After adjustment for potential contributory factors, nominally significant associations were seen between TT genotype and the recessive model of TCF7L2 rs7903146 and increased risk of T2DM [hazard ratio (HR)=4.068, 95% confidence interval (CI): 1.270-13.026; HR=4.051, 95% CI: 1.268-12.946, respectively]. The TT genotype of rs7903146 was also significantly associated with higher fasting plasma insulin level and the homeostasis model assessment of insulin resistance in case of new-onset diabetes. In addition, the TCF7L2 rs290487 TT genotype was associated with abdominal obesity and the GCG rs12104705 CC genotype was associated with both general obesity and abdominal obesity in case of new-onset diabetes.

Research and implementation of gray-scale blood flow imaging system of high frequency ultrasound / 国际生物医学工程杂志

Objective To study the method of gray-scale blood flow imaging and image processing in condition of high frequency ultrasound,and the implementation of the system.Methods On the base of research of scattered signals of red blood cells in high frequency ultrasound,20 MHz ultrasound mechanical and linear scanning probe was used to transmit a number of pulses on a scan line.Pulse-echo subtraction method was used to obtain the blood flow information.At the end,simulated blood vascular was used to conduct flow imaging,and the obtained images were analyzed.Results Experiment results showed that clear blood flow images were obtained using this system.The noise from perivascular tissue could be filtered and the signals from blood flow could be enhanced after image processing.Conclusions In the detection of superficial blood vessel,blood flow signals can be obtained even using single pulse emitting via high frequency ultrasound.The blood flow imaging system can be implemented after image processing.

Association between Low-density Lipoprotein Receptor-related Protein 5 Polymorphisms and Type 2 Diabetes Mellitus in Han Chinese: a Case-control Study / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate the association between low-density lipoprotein receptor-related protein 5 (LRP5) variants (rs12363572 and rs4930588) and type 2 diabetes mellitus (T2DM) in Han Chinese.</p><p><b>METHODS</b>A total of 1842 T2DM cases (507 newly diagnosed cases and 1335 previously diagnosed cases) and 7777 controls were included in this case-control study. PCR-RFLP was conducted to detect the genotype of the two single nucleotide polymorphisms (SNPs). Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated to describe the strength of the association by logistic regression.</p><p><b>RESULTS</b>In the study subjects, neither rs12363572 nor rs4930588 was significantly associated with T2DM, even after adjusting for relevant covariates. When stratified by body mass index (BMI), the two SNPs were also not associated with T2DM. Among the 3 common haplotypes, only haplotype TT was associated with reduced risk of T2DM (OR 0.820, 95% CI 0.732-0.919). In addition, rs12363572 was associated with BMI (P<0.001) and rs4930588 was associated with triglyceride levels (P=0.043) in 507 newly diagnosed T2DM cases but not in healthy controls.</p><p><b>CONCLUSION</b>No LRP5 variant was found to be associated with T2DM in Han Chinese, but haplotype TT was found to be associated with T2DM.</p>