Objective To assess the diagnostic yields of clinical chromosomal microarray ( CMA) testing for patients with neurodevelopmetal disorders ( NDD) , and to characterize the spectrum of pathogenic copy number variation(CNV) in NDD.Methods The study was a cross-sectional study.NDD patients from Shanghai Children′s Medical Center ( SCMC ) from April 2014 to April 2015 were recruited.DNA samples from SCMC cohort were tested on Affymetrix Cytoscan Dx microarray platform.The diagnostic yields of CMA testing were further assessed for the whole NDD cohort and each subgroup.Results A genome-wide genotype-phenotype analysis on a total of 107 NDD cases with CMA testing was conducted.Based on the SCMC clinical cohort, the overall diagnostic yield of CMA testing for NDD patients was 20.6%(22/107). Excluding one case with chromosomal aneuploid, the frequency of non-polymorphic CNVs of the rest NDD cases were 25.5%(27/106).The diagnostic yield for developmental delay/intellectual disorder(DD/ID) and autism spectrum disorder(ASD)were 26.3% (15/57) and 10.2%(4/39) respectively.DD/ID was more likely to be associated with CNV than ASD and attention-deficit/hyperactivity disorder(ADHD).Five recurrent genomic loci were significantly enriched in patients including 1q21.1-q21.2, 15q11.2-q13.1, 22q11.2, 7q11.23 and 17q11.2.Conclusion CNV is an important pathogenesis in NDD.

Objective:To observe the application effect of formative evaluation of embedded standard patient (SP) on internal medicine practice teaching.Methods:In this study, 110 students from our school in Batch 2014 who were interned in the internal medicine of the same affiliated hospital were selected as the research objects, and they were randomized into the experimental group and the control group, with 55 students in each group. The control group was trained with traditional clinical practice teaching methods. The experimental group used SP combined mini-clinical evaluation exercise (Mini-CEX) to participate in the evaluation during the clinical practice teaching of internal medicine. After the internal medical practice, the two groups of students were evaluated by Mini-CEX, and the teaching effect of both groups was evaluated through questionnaires.Results:There was no significant difference in the degree of difficulty in the examinations ( P>0.05), but the test scores of the experimental group were significantly higher than those of the control group. The results of Mini-CEX used in inquiry skills, physical examination, humanistic care, and organizational effectiveness were significantly higher in the experimental group than in the control group. The experimental group was highly satisfied with the formative evaluation of SP participation in improving the effect of internal medicine practice, with statistical significance ( P<0.05). Conclusion:The formative evaluation with SP participation in this study can improve the clinical practice teaching effect of medical students to a certain extent.

Objective:To investigate the construction status of clinical skills training centers of secondary and above comprehensive western hospitals in Yunnan Province, and to provide a basis for the scientific, specific and standardized construction and development of clinical skills training centers of hospitals at all levels in Yunnan Province.Methods:The evaluation index of the construction of clinical skills training center was established, and questionnaires were developed to investigate the current situation of the construction of clinical skills training center in the secondary and above comprehensive western hospitals in the whole province. SPSS 17.0 software was used for chi-square test.Results:According to the investigation, 79.1% (72/91) of secondary and above comprehensive western hospitals in Yunnan Province have established clinical skills centers of different scales, but 84.6% (77/91) of them have fewer than 50 teachers participating in clinical skills teaching each year, with weak faculty and big differences in the faculty of hospitals at all levels ( P<0.05). In 64.6% (84/130) of the centers, the simulated teaching courses are only single basic skill courses, and the training content is relatively single, with great differences in the current situation ( P<0.05). Only 33.0% (30/91) of the centers have initially established an internal quality control system, and there are statistically significant differences in the way of conducting quality evaluation ( P=0.023). Conclusion:The foundation of the connotation construction of the clinical skill center is to establish a complete, professional and gradient teaching team and a stepped clinical skills training curriculum system. The construction of a perfect internal quality control system is the vitality of the development of the clinical skill center, and scientific research is the source of the sustainable development of the center.