Analysis of clinical features and genetic variants in a Chinese pedigree affected with tuberous sclerosis / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features of a Chinese pedigree affected with tuberculosis sclerosis and explore its molecular pathogenesis.@*METHODS@#Clinical data of the proband and members of his pedigree were collected. Whole exome sequencing was carried out to detect variants of the TSC1 and TSC2 genes. Candidate variants was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband and his mother, who also had mild features of tuberous sclerosis, were found to harbor a novel heterozygous c.4183C>T (p.Q1395X) variant of the TSC2 gene, which was absent in the 4 healthy relatives. Bioinformatic analysis suggested the variant to be likely pathogenic.@*CONCLUSION@#The heterozygous c.4183C>T (p.Q1395X) variant of the TSC2 gene probably underlay the disease in this pedigree. Above finding has expanded the spectrum of TSC2 gene variants. The more severe symptoms in the proband may be attributed to phenotypic heterogeneity of this disease.

Application of PDCA Cycle Management in Increasing the Dispensing Rate of Hospital Outpatient Automatic Dispensing Equipment / 中国药房

OBJECTIVE: To improve dispensing rate of automatic dispensing equipment, and to shorten dispensing time.METHODS: Continuous quality improvement (CQI) group was established, and COI was conducted by using PDCA (Plan, Do, Check, Action) cycle. The influencing factors for slow drug delivery of automatic dispensing equipment were analyzed to set up the target, adjust multi-package drugs, develop appropriate improvement plans and implementation methods, monitor result and evaluate effect (calculated the first 10 in usage frequency of the multi-package drugs). RESULTS: Through adjusting the specification and list of multi-package drugs, the utilization rate of multi-package drug increased from 63. 91％ to 86. 23％ of 10 drugs during Jun. -Oct. in 2016; compared with the single-package dispensing mode, and dispensing time shortened 7. 86-13. 73 h per month of 10 drugs. CONCLUSIONS: Through the CQI, the dispensing rate of automation dispensing equipment is greatly increased by drug multi-package dispensing mode.