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OBJECTIVE Quasi-moyamoya disease (QMMD) is moyamoya disease (MMD) associated with additional underlying diseases. Although the ring finger protein 213 (RNF213) c.14576G>A mutation is highly correlated with MMD in the Asian population, its relationship to QMMD is unclear. Therefore, in this study the authors sought to investigate the RNF213 c.14576G>A mutation in the genetic diagnosis and classification of QMMD. METHODS This case-control study was conducted among four core hospitals. A screening system for the RNF213 c.14576G>A mutation based on high-resolution melting curve analysis was designed. The prevalence of RNF213 c.14576G>A was investigated in 76 patients with MMD and 10 patients with QMMD. RESULTS There were no significant differences in age, sex, family history, and mode of onset between the two groups. Underlying diseases presenting in patients with QMMD were hyperthyroidism (n = 6), neurofibromatosis type 1 (n = 2), Sjögren’s syndrome (n = 1), and meningitis (n =1). The RNF213 c.14576G>A mutation was found in 64 patients (84.2%) with MMD and 8 patients (80%) with QMMD; no significant difference in mutation frequency was observed between cohorts. CONCLUSIONS There are two forms of QMMD, one in which the vascular abnormality is associated with an underlying disease, and the other in which MMD is coincidentally complicated by an unrelated underlying disease. It has been suggested that the presence or absence of the RNF213 c.14576G>A mutation may be useful in distinguishing between these disease types.

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The increase in minimally invasive surgery has led to a decrease in surgical experience. To date, there is only limited research examining whether skills are evaluated objectively and equally in simulation training, especially in microsurgery. The purpose of this study was to analyze the objectivity and equality of simulation evaluation results conducted in a contest format. A nationwide recruitment process was conducted to select study participants. Participants were recruited from a pool of qualified physicians with less than 10 years of experience. In this study, the simulation procedure consisted of incising a 1 mm thick blood vessel and suturing it with a 10-0 thread using a microscope. Initially, we planned to have the neurosurgical supervisors score the simulation procedure by direct observation. However, due to COVID-19, some study participants were unable to attend. Thus requiring some simulation procedures to be scored by video review. A total of 14 trainees participated in the study. The Cronbach's alpha coefficient among the scorers was 0.99, indicating a strong correlation. There was no statistically significant difference between the scores from the video review and direct observation judgments. There was a statistically significant difference (p <0.001) between the scores for some criteria. For the eight criteria, individual scorers assigned scores in a consistent pattern. However, this pattern differed between scorers indicating that some scorers were more lenient than others. The results indicate that both video review and direct observation methods are highly objective techniques evaluate simulation procedures.