OBJECTIVE:To improve the work quality in Pharmacy intravenous admixture service(PIVAS). METHODS:The major working links of PIVAS(labeling and drug admixture)were optimized,the work efficiency and error before and after optimi-zation were compared. RESULTS:The work efficiency was improved and error was decreased by adding logo and adjusting work range of personnel when labeling and improving distribution principles of drugs to be allocated in horizontal laminar flow table when drug admixture;compared with before,the labeling time for each bag decreased from(2.69±0.17)s to(2.19±0.08)s,to-tal time for admixture decreased from (104 ± 2) min to (83 ± 2) min,error rate of drug admixture decreased from 0.34% to 0.16%. CONCLUSIONS:The optimized work flow had improved the work quality of PIVAS.

OBJECTIVE: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. METHODS: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal. CONCLUSION The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Child ; Female ; Genetic Variation ; Genotype ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa ; genetics ; Night Blindness ; etiology ; Pedigree ; Phenotype ; Usher Syndromes ; genetics ; pathology