Analysis of neurofibromatosis 1 gene mutation in a family with neurofibromatosis and its clinical significance / 中华神经科杂志

To screen the pathogenic mutation location in a genetic family with the neurofibromatosis (NF1) by the next generation sequencing and analyze the clinical phenotype,Illumina Miseq sequencing was applied to capture and analyze the target regions of NF1 family's probands,and furtherly find out the suspicious mutations,as well as to verify the family members by Sanger sequencing.Two rare variants were identified in proband,including the heterozygous missense mutation c.C3649T (p.P1217S) in KIF1B gene and the missense mutation c.T6311C (p.L2104P) on exon 41 of NF1 gene (NM_000267.3).The amino acid at position 2104 was found to be changed from leucine to proline in NF1.The protein prediction SIFT and Polyphen-2 values were 0,0.997,which predicted a conformational change in the encoded protein and eventually affected its function.The mutation c.T6311C in NF1 gene was detected in all patients in this family,which showed genetic co-segregation.The clinical phenotype was neurofibroma in the spinal canal.There were no café au lait spots,iris Lisch nodules,scoliosis,tinnitus,heating loss,or elevated intracranial pressure.The missense mutation c.T6311C (p.L2104P) in NF1 gene might be the genetic cause of this hereditary disease of neurofibromatosis.

Effect of microRNAs 224 and 21 on human glioblastoma stem cell survival and the possible molecular mechanisms / 中国生化药物杂志

Objective To explore the effect of microRNAs 224 and 21 on human glioma stem cells survival and the possible molecular mechanisms.Methods qPCR was used to detect the dysregulated expression of microRNAs in malignant glioma samples, human GBM stem cells, artificially established GBM stem cell lines and human tissues.Caspase 3/7 assay, Annexin V apoptosis/fluorescence assay were performed to determine the effect of miR-21 or miR-224 mimics and inhibitor on cell apoptosis.Living cells count was used to assess miR-21 or miR-224 mimics and inhibitor on cell growth.TargetScan was used to explore potential targets of miR-21 and miR-224, and dual luciferase reporter assay was used to identify whether the 3’UTR of Caspase 3, Caspase 9 and Bim mRNA was a binding target of miR-21 or miR-224.Western blot was used to detect the expression of Caspase 3, Caspase 9 and Bim protein after transfection of miR-21 or miR-224 mimics or inhibitors.Results miR-21 and miR-224 are strongly upregulated in GSC samples, multiple GBM human tumor specimens, and GBM neurosphere stem cell lines ( P<0.05 ) .Caspase 3/7 assay and Annexin V apoptosis/fluorescence assay results showed that miR-224 and miR-21 regulated GSC apoptosis.Living cells count results demonstrated that miR-224 and miR-21 regulated GSC growth.miR-224 and miR-21 regulate pro-apoptotic gene expression by directly targeting Caspase 3, Caspase 9, and Bim 3’-UTRs. Conclusion These results indicate that miR-224 and miR-21 are important physiologic drivers of GSC resistance to apoptosis, providing new points of therapeutic leverage against these treatment-resistant cells.

Anti-cancer mechanism of bufalin / 国际肿瘤学杂志

Bufalin is one of the major active components of Chan Su,a traditional Chinese medicine.Studies at home and abroad have confirmed that bufalin can inhibit cell proliferation significantly in many human leukemia and solid cancer cell lines by inhibiting endothelial hyperplasia and angiogenesis,and inducing cell differentiation and apoptosis. With the deepening of study,it is showed that bufalin has extensive anticancer activities and it has potential clinical value with very low drug concentration.

Livin and malignant tumor / 国际肿瘤学杂志

The inhibitor of apoptosis proteins (IAPs) are importants factors of cell apoptosis inhibitors that are closely related to tumorigenesis and tumor development. Livin is selectively expressed in most common human malignant neoplasms. It is demonstrated that Livin may play an important role in tumorigenesis. To research the biological characteristics and the role of Livin is significant to tumor development and progression, chemoresistance ,tumor therapy and prognosis. In recent years,immunotherapy and gene therapy for the targeting of Livin have become a spot research, which provid new strategy and direction for tumor therapy.

Study of surface electromyographic signal features of pelvic floor muscles in patients with complete spinal cord injury / 中华物理医学与康复杂志

Objective To investigate changes of surface electromyogr8phic(sEM G)signal of pelvic floor muscles in complete spinal cord injury(cSCI)patients with neurogenic bowel dysfunction.Methods Fifteen hospitalized patients with cSCI(observation group)and fifteen normal subjects(control group)were involved in this study.The root mean square(RMS)of sEMG signals were collected at pelvic floor muscles with rectal surface electrode when subjects'pelvic floor muscles were rest(10 s),fleetly contract(2 s×3),continually contract(10 s).Both groups'data of different contracting states of pelvic floor muscles were analyzed and compared.Results The max RMS and average RMS(16.61±2.83,13.52±2.22)at pelvic floor muscles'rest in observation group were higher than that in control group(8.41±5.55,3.45±1.53).There was statistical difference between two groups(P<0.01).In the subjects of observation group max RMS and average RMS(20.24±13.99,13.36±2.39)at continual contraction and average RMS(13.40±2.31)at fleet contraction were nearly the same as RMS value at pelvic floor muscles'rest.There was no statistical difference between these two states(P>0.05).Conclusion The sEMG could be a quantitative index in assessing function of pelvic floor muscles and the neurogenic bowel dysfunction after cSCI.It can supply some clinical value in framing the training of pelvic floor muscles and improving the bowel dysfunction.