Factors influencing satisfaction of rehabilitation services quality for older people purchased by government / 中国康复理论与实践

ObjectiveTo explore the influence of structure and process variables on the satisfaction of government purchasing pension service quality based on framework of Donabedian Three-Dimensional Quality Model, Community-based Rehabilitation Guideline and Rehabilitation in Health System. MethodsFrom June to December, 2019, 952 elderly from Changsha, Zhuzhou and Xiangtan in Hunan were randomly selected. Hierarchical regression was used to analyze the influence of structure and process variables on satisfaction of home care and institutional care service quality. ResultsThe satisfaction degree of rehabilitation service quality for older adults was generally abvoe the average level with the score of (21.19±6.84). And the score was higher in the institutional rehabilitation (23.06±7.67) than in the home rehabilitation (19.31±6.85) (t = 7.93, P = 0.001). Among the structural variables, only staffs training could predict the satisfaction of rehabilitation service (B = 0.088, P < 0.05), and finance was not significant (P > 0.05) after adding process variables. The effect of process variables on satisfaction degree of quality of rehabilitation services was greater than that of structural variables. Information obtaining, autonomy, trust and treat with respect had significant positive effects on rehabilitation service of all the elderly (B = 0.282~0.410, P < 0.05). ConclusionProcess variables are important determinants for satisfaction of rehabilitation service quality. Relevant departments should pay more attention on service process factors such as the interaction between service personnel and the elderly.

Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy / 中华医学遗传学杂志

OBJECTIVE@#To explore clinical and genetic features of a pedigree affected with autosomal recessive neuromyotonia and axonal neuropathy (NMAN).@*METHODS@#For the proband and her parents, clinical data was collected, genomic DNA was extracted from peripheral blood samples. Triplet primed-PCR was carried out to detect dynamic mutation of DMPK and ZNF9 genes, which are responsible for myotonic dystrophy, by capillary electrophoresis. High-throughput sequencing was used to screen variants of candidate genes for Mendelian disorders involving the nervous system. Candidate variants were confirmed by Sanger sequencing. The genotype of the variant was determined in the parents and 100 healthy controls. Pathogenicity of the variant was assessed by ACMG criterion.@*RESULTS@#Mutation of DMPK and ZNF9 genes was excluded. DNA sequencing has identified a homozygous missense variant (c.335C>T, p.R119W) in the HINT1 gene. Both parents were found to carry the variant. The same variant was not found among the healthy controls. According to the ACMG criterion, the missense variant was classified as a pathogenic variant.@*CONCLUSION@#The c.335C>T (p.R119W) of the HINT1 gene probably underlie the disease in this pedigree. Above finding provided further evidence for the connection between HINT1 and NMAN and enriched the mutation spectrum of HINT1 gene.