1.Purchase, utilization and management of medical equipment
Zhixian PU ; Xiang GAO ; Hui TANG
Chinese Medical Equipment Journal 1989;0(03):-
This paper points out that sunshine purchase, reasonable utilization and scientific management be involved in the management of medical equipment.
2.Comparison of Suspension Array and EnzymE-Linked Immunosorbent Assay Methods for Detection of Three Kinds of Veterinary Drug Residues
Nan LIU ; Pu SU ; Zhixian GAO ; Maoxiang ZHU ; Zhihua YANG ; Xiujie PAN ; Fuhuan CHAO
Chinese Journal of Analytical Chemistry 2009;37(7):960-964
A novel suspension array technology was established for the detection of three kinds of veterinary drug residues: chloramphenicol, clenbuterol and 17-β-estradiol. The three conjugates in which veterinary drugs coupled with BSA were immobilized on the solid carrier of the suspension microarray-polystyrene fluorescent microspheres/beads as detective probes. Indirect competitive technology was employed. Competitive reactions between the veterinary drugs in the aqueous phase and the veterinary drugs-BSA conjugates on the beads for coupling with their complimentary specific biotinylated monoclonal antibodies were carried out. And then, straptavidin-phycoerythrin was added for coupling and the fluorescent signals were captured. Afterwards the detective standard curves were plotted. The regular ELISA standard curves of the three veterinary drugs were also plotted. Comparison between suspension array and regular enzymE-linked immunosorbent assay(ELISA) was in the respects of the detective technology, the detection limits, the detective ranges, the samples detection and the multi-analysis. Suspension array technology is distinct advantageous except for specificity. There was well consistent performance between the two methods. The high-throughput suspension array provides a novel method for multi-analysis of veterinary drugs with simple operation, sensitive, rapid and low costing.
3. Spectrum of mutations in benign familial neonatal-infantile epilepsy
Qi ZENG ; Yuehua ZHANG ; Xiaoling YANG ; Lihua PU ; Jing ZHANG ; Aijie LIU ; Zhixian YANG ; Xiaoyan LIU ; Xiru WU
Chinese Journal of Pediatrics 2018;56(4):267-273
Objective:
To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) .
Methods:
Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protoco1. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing, candidate gene mutations were further screened by next-generation sequencing for epilepsy.
Results:
A total of 7 families were collected. Of the 30 affected members, 15 were male and 15 were female. The age of epilepsy onset was from 2 days to 6 months. Genetic testing led to the identification of gene mutations in all families. One family had the PRRT2 hotspot mutation (c.649dupC). Three families had missense SCN2A mutations (c.2674G>A/p.V892I, c.2872A>G/p.M958V, and c.2627A>G/p.N876S) . Both c.2872A>G/p.M958V and c.2627A>G/p.N876S were novel SCN2A mutations. Three families had KCNQ2 mutations. Two of them had missense mutations (c.958G>A/p.V320I and c.998G>A/p.R333Q) . The KCNQ2 mutation c.958G>A/p.V320I was novel. One family had a gene deletion of KCNQ2, which also extended to the adjacent gene, CHRNA4; and the deletion involved all the exons of KCNQ2 and CHRNA4.
Conclusions
Mutations in KCNQ2, SCN2A, and PRRT2 are genetic causes of BFNIE in Chinese families. The detection rate for gene mutations is high in BFNIE families. KCNQ2 and SCN2A mutations are common in BFNIE families. SCN2A mutations (c.2872A>G/p.M958V and c.2627A>G/p.N876S) and KCNQ2 mutation (c.958G>A/p.V320I) are novel mutations.
4.Study of Pathogenic gene spectrum in benign familial infantile epilepsy
Qi ZENG ; Yuehua ZHANG ; Xiaoling YANG ; Lihua PU ; Xiaoli YU ; Xiuju ZHANG ; Jing ZHANG ; Aijie LIU ; Zhixian YANG
Chinese Journal of Applied Clinical Pediatrics 2017;32(24):1866-1872
Objective To investigate the gene mutations in benign familial infantile epilepsy(BFIE)in Chi-na. Methods Data of all BFIE probands and their family members were collected from Peking University First Hospital and other three hospitals between October 2006 and June 2017. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing,candidate gene mutations were further screened by next - generation sequencing. Results A total of 71 families including 227 affected members were collected. Genetic testing led to the identification of gene mutations in 52 families (52 / 71,73. 2%). Forty - three families had PRRT2 mutations (43 / 71,60. 6%),including 40 families with frameshift mutations(hotspot mutations c. 649_650insC and c. 649delC were detected in 29 families and 6 families,respectively),one family with nonsense mutation,one family with a loss of a stop codon,and one family with a microdeletion of the gene. C. 560_561insT and c. 679C > T were novel PRRT2 mutations. Five families had SCN2A mutations. All SCN2A mutations were missense mutations(c. 668G > A,c. 752T > C,c. 1307T > C,c. 4835C > G,c. 1737C > G). Mutation c. 752T > C, c. 1307T > C,c. 4835C > G,and c. 1737C > G were novel mutations. Three families had KCNQ2 mutations. All KCNQ2 mutations were missense mutations(c. 775G > A,c. 237T > G,c. 1510C > T). Mutation c. 237T > G and c. 1510C > T were novel mutations. One family had a novel GABRA6 mutation c. 523G > T. In 71 BFIE families,16 families had mem-bers who showed paroxysmal kinesigenic dyskinesias(PKD)and subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). Fifteen ICCA families were found having PRRT2 mutations (15 / 16,93. 8%). The remaining ICCA family was not detected with any pathogenic mutation. Conclusion There is high frequency of gene mutations in BFIE families. Mutations in KCNQ2,SCN2A,and PRRT2 are genetic causes of BFIE. PRRT2 is the main gene responsible for BFIE. GABRA6 mutation might be a new cause of BFIE.