Identification and analysis of anovel variant of TRAPPC2 in a X-linked spondyloepiphyseal dysplasia tarda pedigree / 中华骨科杂志

Objective:To provide experimental evidence for genetic counseling and prenatal diagnosis by analyzing the clinical characteristics, screening and identification of the function of suspicious variants in a X-1inked spondyloepiphyseal dysplasia tarda (SEDT) family.Methods:The family members' medical history, general physical examination, femur, spine X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA was extracted from these samples. Sequencing clinical whole exons of proband DNA by targeted gene high-throughput sequencing method, then analysis sequencing data. The suspicious mutation was confirmed in pedigree members by PCR and Sanger sequencing. Reverse transcription polymerase chain reaction (RT-PCR) experiments of total RNA from blood lymphocytes were performed. The amplification of exons 3 and 4 of the pathogenic gene were amplified and identified by agarose gel. The expression of the pathogenic gene was also detected.Results:Three affected males of the family were diagnosed with SEDT according to their clinical and radiological features. A nonsense mutation in the transport protein particle complex subunit 2 ( TRAPPC2) gene NM_001011658: c.91A>T (p.K31*) was found in the proband using whole exome sequencing. This variation was also detected in his cousin, but not in non-phenotypic members of the family. The RT-PCR result for amplification of exon 3 and 4 of peripheral blood lymphocytes was the same as those of normal controls, indicating that the mutation did not affect the splicing of transcripts. qPCR results showed that the transcriptional expression of TRAPPC2 in patients was significantly lower than that in family normal controls and normal people controls. Conclusion:Identification of the novel nonsense mutation (c.91A>T) in the SEDT family enables early patients screening, carrier detection, genetic counseling, prenatal diagnosis, and clinical prevention and treatment. The detailed genotype/phenotype descriptions contribute to the SEDT mutation spectrum. The study of the function of TRAPPC2 mutation will help to further elucidate the role of sedlin in cartilage.

Comparative study on Sichuan yak pericardium and Australian cattle pericardium / 生物医学工程学杂志

Currently, as the key raw material of artificial biological heart valve, bovine pericardium is mainly depend on import and has become a "bottleneck" challenge, greatly limiting the development of domestic biological heart valve. Therefore, the localization of bovine pericardium is extremely urgent. In this study, the pericardium of Sichuan yak was compared with that of Australian cattle in terms of fundamental properties and anti-calcification performance. The results demonstrated that the appearance and thickness of yak pericardium were more advantageous than the Australian one. Sichuan yak pericardium and Australian cattle pericardium had comparable performance in shrinkage temperature, mechanical test and anti-calcification test. This study preliminarily verifies the feasibility of substitution of Australian cattle pericardium by Sichuan yak pericardium and promotes the progression of bovine pericardium localization with data support.

School bullying and its influencing factors in higher vocational college students in western Hunan province / 中国学校卫生

Objective@#To understand current situation and influencing factors of school bullying among left-behind and non left-behind students in vocational colleges in western Hunan, and to provide reference for the prevention and control of campus bullying in vocational colleges in poverty-stricken areas.@*Methods@#A multi-stage stratified random cluster sampling method was used to select 1 241 students from higher vocational colleges in Xiangxi for questionnaire survey. The survey included basic demographic characteristics, health-related behaviors and school bullying. Associcted factors were compared among students with and without school bullying by using the χ2 test and Logistic regression.@*Results@#The reported rate of school bullying in vocational colleges was 41.82%. The reported rate of left-behind students (45.05%) was higher than that of non-left-behind students (39.21%). The difference was statistically significant (χ2=4.29,P<0.05). Multivariate unconditional Logistic regression showed that male students and good parental relationship negatively associated with school bullying among left-behind students(OR=0.55，0.47). While rural students, 5 years of senior vocational, smoking, drinking, and game addiction were positively associated with school bullying among left-behind students(OR=1.93,2.57,2.51,3.95,4.73); good relationship with mothers was associated with less school bullying(OR=0.40), while smoke, drinking and game addiction was associated with more school bullying among non left-behind students(OR=1.86,2.32，3.81)(P<0.05).@*Conclusion@#School bullying among students in higher vocational colleges in western Hunan is highly prevalent. The reporting rate among left-behind students is higher than that of non-left-behind students. Due to different factors, joint intervention measures by government, schools and families should be carried out as soon as possible.

Over-expression of transducer of ErbB2, 1 inhibits migration and invasion of human lung cancer cell line A549 in vitro / 肿瘤

Objective: To investigate the effect of over-expression of transducer of ErbB2, 1 (TOB1) on migration and invasion of human lung adenocarcinoma cell line A549. Methods: The expression levels of TOB1, phosphatase and tensin homolog deleted on chromosome ten (PTEN), breast cancer metastasis suppressor 1 (BRMS1), ras homolog gene family, member C (RHOC) and non-metastatic cells 1 (NME1) mRNAs in human bronchial epithelial (HBE) cells and ten types of human lung cancer cells were detected by RT-PCR. The recombinant plasmid pcDNA3.0-TOB1 and the empty vector pcDNA3.0 were transfected into A549 cells, respectively. The A549 cells over-expressing TOB1 protein (A549/TOB1 cells) and the A549/PC3 cells (as the control cells) were established. The abilities of migration and invasion of A549/TOB1 cells were determined by wound healing and Transwell assay. The expression levels of PTEN, BRMS1, RHOC and NME1 mRNAs were detected by RT-PCR, and the expression levels of α-N-catenin, β-catenin, γ-catenin, matrix metalloproteinase 2 (MMP2) and MMP9 were detected by Western blotting. Results: The expression levels of TOB1 mRNA in ten types of lung cancer cells were lower than that in HBE cells (P <0.05). The expression level of TOB1 mRNA was positively correlated with the expression levels of PTEN, BRMS1 and NME1 mRNAs (P <0.05). The abilities of migration and invasion of the A549/TOB1 cells were obviously decreased as compared with those of the A549 cells (P <0.05). The expression levels of PTEN, BRMS1 and NME1 mRNAs were higher whereas the expression level of RHOC mRNA was lower in the A549/TOB1 cells as compared with those in the A549 cells (P <0.05). The expression levels of α-N-catenin, β-catenin, γ-catenin, MMP2 and MMP9 proteins in the A549/TOB1 cells were lower than those in the A549 cells (P <0.05). Conclusion: Exogenous TOB1 over-expression can inhibit the abilities of migration and invasion of A549 human lung cancer cells in vitro . This effect may be associated with the downregulation of α-N-catenin, β-cateninm γ-catenin, MMP2 and MMP9 expressions, and which was induced through the regulation of PTEN, BRMS1, RHOC and NME1 expressions by TOB1. Copyright © 2012 by TUMOR.

An Analysis of the Result of Surgical Treatment of Anterior Communicating Aneurysms

The authors attempted to analyse the factors influencing the mortality involved in aneurysm surgery based on 38 cases of intracranial surgery for anterior communicating aneurysms, and obtained the following conclusion. 1. The surgical results are much better when the aneurysm surgery is delayed over one week after the occurrence of aneurysmal rupture, if there is no evidence of intracerebral hematoma. Administration of a massive dosage of epsilon aminocaproic acid in the waiting period prior to aneurysm surgery seems to be effective for preventing recurrence of bleeding from the aneurysm. 2. The direction of the anterior communicating aneurysm should be clearly visualized on a cerebral angiogram so that the most effective aneurysmal approach can be selected in surgery. 3. Microsurgery and hypotension in aneurysm surgery minimize brain damage in the exposure of aneurysm and provide accurate isolation of the aneurismal neck from the parent vessel in aneurysmal neck ligation. 4. Proximal ligation of the anterior cerebral artery is also an effective procedure to prevent recurrent hemorrhage from anterior communicating aneurysm.