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OBJECTIVE@#To explore the genetic etiology for a child with profound intellectual disabilities and obvious behavioral abnormalities.@*METHODS@#A male child who had presented at the Zhongnan Hospital of Wuhan University on December 2, 2020 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. Short tandem repeat (STR) analysis was carried out to determine its parental origin. The splicing variant was also validated in vitro with a minigene assay.@*RESULTS@#WES results revealed that the child had harbored a novel splicing variant of c.176-2A>G in the PAK3 gene, which was inherited from his mother. The results of minigene assay have confirmed aberrant splicing of exon 2. According to the guidelines from the American College of Medical Genetics and Genomics, it was classified as a pathogenic variant (PVS1+PM2_Supporting+PP3).@*CONCLUSION@#The novel splicing variant c.176-2A>G of the PAK3 gene probably underlay the disorder in this child. Above finding has expanded the variation spectrum of the PAK3 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.
Subject(s)
Child , Female , Humans , Male , Pregnancy , Exons , Intellectual Disability/genetics , Mothers , Mutation , p21-Activated Kinases/genetics , Parents , RNA SplicingABSTRACT
Coronary heart disease (CHD) is a kind of cardiovascular diseases originated from atherosclerosis (AS), and chronic inflammation is one of the pathological characteristics. The peripheral blood leukocytes, especially mononuclear cells, play an important role in the AS processes. Recently, in a series of Epigenome-Wide Association Studies (EWAS), multiple DNA differential methylation sites in peripheral blood cells were found to be statistically associated with CHD, which suggested that these DNA differential methylation sites might serve as new risk factors for CHD. The recognition of the variant of DNA methylation as a common epigenetic nucleic acid modification in the occurrence and development of CHD, is ongoing. DNA methylation has the potential to become warning biomarkers, which might provide new ideas and evidences for mechanistic studies of CHD.
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Objective:To investigate the relationship between resilience, perceived social support, and adaptability in military freshmen.Methods:A total of 195 freshmen were randomly selected from a military medical university. The Chinese version of Connor-Davidson Resilience Scale (CD-RISC), the Perceived Social Support Scale (PSSS), and a self-test questionnaire of college students' psychological adaptability were used to investigate their resilience, perceived social support, and adaptability. SPSS 26.0 was used to perform an independent samples t-test and a Pearson correlation analysis to analyze the differences in these scores between freshmen with different demographic characteristics and the correlation between these scores. By using the PROCESS plug-in, a structural equation model was used to analyze the mediating effect of resilience on the relationship between social support and psychological adaptation, which was further tested using the Bootstrap method. Results:The independent samples t-test showed that females had a significantly higher score of other support than males ( t = -2.05, P = 0.041), and student leaders had significantly higher scores of family support and other support, total score of social support, and score in psychological adaptability than other students (all P<0.05). The correlation analysis showed that there were significant positive correlations between the scores of PSSS and its each item, CD-RISC, and self-test of college students' psychological adaptability (all P<0.05). The structural equation model showed that resilience partially mediated the relationship between social support and psychological adaptation, and the Bootstrap method revealed a significant indirect effect (95%CI: 0.102-0.253). Conclusion:Resilience plays a partial mediating role between perceived social support and adaptability in military freshmen. They should be guided to correctly perceive external support and develop strong resilience.
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Objective:To explore the relationship between proactive personality, resilience and achievement motivation of military cadets, and to explore the mediating role of resilience between proactive personality and achievement motivation, as well as the moderating effect of cadets’leading ability on this mediating role.Methods:In this study, 109 military cadets were measured with proactive personality scale, Connor-Davidson resilience scale (CD-RISC) and achievement motivation scale. SPSS 26.0 was used for descriptive statistical analysis and correlation analysis.Results:①There was a significant correlation among the total scores of proactive personality, resilience and achievement motivation ( Ps<0.01). ②Proactive personality could significantly predict the level of achievement motivation ( a=0.454, P<0.001), and resilience could significantly predict the level of achievement motivation ( b=0.231, P=0.019). ③Resilience significantly mediated the relationship between proactive personality and achievement motivation ( c′=0.3, P=0.003). ④Cadets' leading ability moderated the effect of resilience on achievement motivation (index=0.338, 95% CI: 0.057 to 0.881). The mediating effect of resilience between proactive personality and achievement motivation was significant for cadets' leaders (Effect=0.381, 95% CI: 0.085 to 1.005), but not significant for other students (Effect=0.043, 95% CI: -0.069 to 0.252). Conclusion:The proactive personality of military cadets can affect the level of achievement motivation through psychological resilience, which is also moderated by cadre identity, suggesting that military education should improve the level of achievement motivation in many ways.
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Objective:To establish a suitable quality evaluation index system of open online courses in military continuing education.Methods:A primary index system program was established through literature review and small expert meeting. Delphi method was used to conduct a letter consultation among 50 experts, and the index system was revised according to the experts' advice and they consulted again until a broad agreement was reached.Results:After two rounds of letter consultation, the recognition rate of 43 experts on the naming and connotation of the indexes reached more than 95%, and their opinions basically reached a consensus. The variation coefficients of the index weights were distributed between 0.00 and 0.10, with a high degree of concentration. A quality evaluation index system of open online courses in military continuing education has been established, including 4 first-level indexes: curriculum design, curriculum production, online operation and curriculum effect, 10 second-level indexes, and 25 third-level indexes.Conclusion:The quality evaluation index system could provide a basis for evaluating online course quality scientifically and offer better educational resources and teaching services.
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Medical information registration of rare disease cases serves as scientific basis for development of population intervention strategy, improvement of medical service system, better patient medical support level, and higher medicine accessibility. Based on their hospital work, the authors introduced the development practice of an all-dimensional management system for such information registration, in terms of formulating policies, establishing organizational structure, organizing and publicizing policies for the medical service of rare diseases, maintaining registration data and so on, so as to provide the reference for the management of registration work of rare diseases.