Objective:To explore the clinical and genetic etiology of a Chinese pedigree affected with type 2 Long QT syndrome (LQTS).Methods:A pedigree with type 2 LQTS presented at Fuwai Central China Cardiovascular Hospital on August 23, 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents. Following extraction of genomic DNA, whole exome sequencing (WES) was carried out for the proband, and candidate variant was screened through functional annotation and protein-protein interaction (PPI) analysis. Sanger sequencing was conducted to verify the pathogenicity of candidate variant. This study was approved by Medical Ethics Committee of the Fuwai Central China Cardiovascular Hospital (Ethics No. 2019-15).Results:WES revealed that the proband has harbored a missense variant of the KCNH2 gene, namely c. 1478A>G (p.Tyr493Cys), which was confirmed by Sanger sequencing to have inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_supporting+ PM5+ PP3+ PP4). Conclusion:The KCNH2 gene c. 1478A>G (p.Tyr493Cys) variant probably underlay the type 2 LQTS in this pedigree.

OBJECTIVE: CDKN2B-AS1 polymorphisms were shown to associate with the risk of stroke in European. The goal of this study was to evaluate the contribution of CDKN2B-AS1 rs1333049 to the risk of hemorrhagic stroke (HS) and brain tumor (BT) in Han Chinese. METHODS: A total of 142 HSs, 115 BTs, and 494 controls were included in the current association study. The genotyping test was performed using the melting temperature shift method. RESULTS: We failed to validate the association of CDKN2B-AS1 rs1333049 with the risk of brain disease. Significantly higher levels of low-density lipoprotein cholesterol (LDL-C) (p=0.027), high-density lipoprotein cholesterol (HDL-C) (p<0.001) and total cholesterol (TC) (p<0.001) were found in HSs in the genotype GG/GC carriers, but not the genotype CC carriers (p>0.05). The meta-analysis of 10 studies among 133,993 individuals concluded that rs1333049 of CDKN2B-AS1 gene was likely to increase a 16% incidence rate of cerebrovascular disease (CD) among various populations (odds ratio 1.16, 95% confidence interval 1.08–1.25; p<0.0001, random-effect method). CONCLUSION: Our case-control study identified rs1333049 genotypes showed different association with the concentration of the LDL-C, HDL-C and TC in the HS patients. Meta-analysis supported the association between rs1333049 and CD risk in various populations, although we were unable to observe association between rs1333049 and the risk of HSs in Han Chinese.
Asian Continental Ancestry Group ; Brain Diseases* ; Brain Neoplasms ; Brain* ; Case-Control Studies* ; Cerebrovascular Disorders ; Cholesterol ; Freezing ; Genotype ; Humans ; Incidence ; Lipoproteins ; Methods ; Stroke

During rescue operations in case of armed conflicts in cities , terrorist attacks and public health emergencies , rescuers are always in danger .For this reason, search for and rescue robots have been used to search and evacuate the wounded .They have also become a hot issue in current robotics technology research ,promising a wide range of applications in civilian and military fields .This paper outlines the origin of rescue robot research ,course of development and classifica-tion, focuses on the developments of and future research of the U .S army on evacuation and rescue robots ,and finally pres-ents the problems and key technical difficulties facing the development of such robots .This paper is interded to improve re-search methods and design theories of rescue robotics .

Objective To evaluate the cellular toxic and release of pharmaceutical dressing.Method Following the State standard GB/T14233.2-2005.the L929 cellular merphology was observed by inveded microscopy after 72h and proliferation of the cells was examined using mitochondrial function(MTT)assay.Relative growth rate (RGR)was calculated and cytotoxicity grade was evaluated by absorbency(OD)data.With PBS7.4 as dissolution media,and(32±0.5)℃as dissolution temperature,the release rate was determined with UV method with the determination wavelength of 288 nm and the dissolved liquid in 1/6,1/2,1,3,16,24,36 and 48 h.Results The average cell RGR of the pharmaceutical dressing is 91.25%and reaches 1 cytotoxicity grade.L929 cellular morphology is normal.Pharmaceutical dressing release accord to Higuchi equation,and the simulated equation is M_t/M_∞=0.3271t~(0.239).Conclusions Biologic compatibility of the pharmaceutical dressing is good,and the release of levofloxacin from the pharmaceutical dressing is sustained in vitro.

Objective To obtain the experimental data of vascular tissue engineering.MethodsThe vascular endothelial cells (VEC) and vascular smooth muscle cells (VSMCs) were acquired and cultured, and then seeded on vascular tissue engineering materials. The porous gelatin-chitosan scaffold with VSMCs was subcutaneously implanted, followed by the observation of the cell growth ten days later.ResultsThe two kinds of cells were successfully cultured and their morpholoical and immunohistochemical characteristics were consistent with vascular endothelial and VSMCs respectively. The VSMCs could grow extensively on the scaffold after the in vivo implantation. The scaffold were wrapped by the fibrous tissue ten days later after the in vitro implantation of VSMCs. The seed cells grew in the scaffold, and the vessel cavity seen in the center of the scaffold, was quite different from the normal vessel structure.ConclusionIt is feasible to implant the VSMCs with fibrin gels into the living body. The vessels reconstructed, though different from the normal structure, is similar to the embryo of the vessels.

Uniaxial stretch strain and compressive pressure of 2 atm were applied to rat's osteoblasts, and then immunohistochemistrical staining was used to detect the expression of osteoblasts' c-fos gene. The experiment result indicated the osteoblasts' FOS proteins increased prominently, and the FOS proteins concentrated in nucleolus after having endured two different kinds of loadings. It is very important to prompt stress and strain in promoting osteoblast proliferation.
Animals ; Animals, Newborn ; Cell Proliferation ; Cells, Cultured ; Osteoblasts ; cytology ; metabolism ; Proto-Oncogene Proteins c-fos ; biosynthesis ; genetics ; Rats ; Rats, Wistar ; Skull ; cytology ; Tensile Strength

Bone cells live in an environment heavily influenced by mechanical force. The development of bone tissue is dependent on the environment that surrounds it, both in vivo and in vitro. A loading stimulator on research of bone tissue-engineering was developed based on the mechanism of mechanosensation, scaffolding composites with mechanical strains with more physiologic magnitude, frequency components, and waveform. It also achieves the mechanical environment particularly in hard scaffold enough strong like cancellous bone. The device was tested using a reference scaffold made of better elastic plastic material. The experiment results showed that the device could be used in precision strain controls. Since the drive of the stimulator comes from the usage of smart material, piezoceramics, the strain at physiological level is controlled precisely. The stimulator provides a mechanical condition under which the effects of loading applied on bone tissue-engineering culture are conveniently investigated. Furthermore, after the stimulator is improved, it will be an appropriate bioreactor for bone tissue-engineering culture.
Bioreactors ; Bone and Bones ; cytology ; Cell Differentiation ; Cells, Cultured ; Humans ; Mechanotransduction, Cellular ; Osteoblasts ; cytology ; metabolism ; Stress, Mechanical ; Tissue Engineering ; instrumentation ; methods ; Tissue Scaffolds

ObjectiveTo investigate the feasibility of construction of engineered blood vessel using chitosan tube and fibrin gel as scaffold.MethodsVascular endothelial cells and smooth muscle cells were harvested from aortas of a rat, respectively. After expansion in vitro, vascular endothelial cells were seeded onto the inner surface of chitosan tube and smooth muscle cells mixed with fibrin gel seeded onto outer surface of the scaffold to construct engineered blood vessels. Inverted microscope, immunohistochemical staining and scanning electronic microscope were used to evaluate the construct.ResultsVascular endothelial cells formed monolayer and covered the inner surface of chitosan tube. Smooth muscle cells survived in the fibrin gel and grew in a 3-dimensional manner. ConclusionChitosan-fibrin gel may be potentially used as scaffold of engineered blood vessels.

Rat's osteoblasts cultured in vitro were stimulated by recombinant bovine basic fibroblast growth factor(rb-bFGF). After 1-2 days, the osteoblast grew long protuberance, the numbers of osteoblasts were greater than the control groups', the vitality of osteoblasts was better than that of control groups. After 1 hour, the expression of c-fos in osteoblast increased when compared with that in the control group. After the osteoblasts having been stimulated for 1-2 days, the expression of c-fos increased more conspicuously. These results show that bFGF can boost the osteoblast to grow and proliferate and can enhance the expression of c-fos gene. The increase of c-fos gene's expression may be an important step in the signal transformation process of all kinds of stimulation boosting osteoblast to proliferate.
Animals ; Cattle ; Cell Proliferation ; drug effects ; Cells, Cultured ; Fibroblast Growth Factor 2 ; pharmacology ; Gene Expression Regulation ; drug effects ; Genes, fos ; drug effects ; Osteoblasts ; cytology ; drug effects ; metabolism ; Proto-Oncogene Proteins c-fos ; metabolism ; Rats ; Rats, Wistar ; Recombinant Proteins ; pharmacology

Various surgical technologies have been developed to minimize the risk of the operation. With continuous water flow being the dissector, a relatively bloodless operation and a clear view for the operator can be obtained. When applied to the adventitia and the soft tissue adjacent to the vascular structure, it is satisfying and the vessel and ureter can be protected perfectly if ligated selectively. The operation time is also shorter than the routine one. So, further studies of this technology are necessary.