Suchergebnisse

Objectives: The purpose of this study is to figure out the current state of patient safety research in Korea and to evaluate whether the research fund support project for patient safety research is proceeding in priority order. Methods: Through the literature search, a list of research projects in the field of patient safety in Korea were collected as of January 6, 2017. Four researchers independently evaluated the subject using the priority list of patient safety research derived from the previous study. Results: As of January 2017, a total of 21 research projects were conducted in the Korea Health Industry Development Institute and 42 research studies were conducted in the National Science & Technology Information. The results of the priority evaluation showed that there were no researches that ranked first and second priority. Many of the research topics were �쁀dverse drug events/drug errors,�� �쁇ealth information technology/information systems,�� and �쁋ess relevance.�� Conclusion: Patient safety research projects are not only diverse but also quantitative in Korea. Support for research topics that need to be prioritized is needed, such as developing safety indicators and measuring patient safelty levels, improving communication, and improving patient safety incident reporting systems. ; open

Background X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneration. TRAPPC2 gene, which is important for collagen secretion, has been reported as causative for SEDT-XL. Case presentation Here, we report two variants of TRAPPC2 gene of SEDT-XL patients, a missense variant of start codon, c.1A > T, and a deletion variant, c.40delG. To understand molecular consequence of the variants, we establish an in vitro gene expression assay system and demonstrate that both mutated genes are transcribed, but are not properly translated, indicative of the pathogenic nature of those TRAPPC2 variants. Conclusions In the current study, we provide additional experimental data showing that loss-of-function TRAPPC2 variants are probably causative for SEDT-XL phenotype. These findings further contribute to the understanding the clinical picture related to TRAPPC2 gene. ; TJC is supported by National Research Foundation (NRF) funded by the Ministry of Science, ICT & Future Planning of the Korean government (NRF2014M3C9A2064684: Genome Technology to Business Translation Program), which has been used for the patient recruitment and care, and determining genetic variants. YK is supported by NRF funded by the Ministry of Science, ICT & Future Planning of the Korean government (NRF-2014M3C9A2064688: Genome Technology to Business Translation Program and RF2016R1A5A1011974), which have been used for validation of the pathogenicity of identified variants and in vitro functional studies. All the decisions regarding to the current studies are made by authors, not by funders. The funders are not involved in the study design, data collection and analysis, performing experiments and in writing the manuscript.