Clinical and genetic analysis of a child with Schaaf-Yang syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).@*METHODS@#Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.@*RESULTS@#The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.@*CONCLUSION@#The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

Impact of social support, self-efficacy and peer stress on college students’ physical exercise behavior / 中国学校卫生

Objective@#To explore the relationship among social support, self-efficacy, peer pressure and physical exercise behavior and to provide a reference for subjective initiative of college students in physical exercise.@*Methods@#Questionnaire survey regarding social support, peer pressure and self-efficacy, as well as physical exercise behavior was administered among 1 189 students from 3 colleges and universities in Henan Province during August to October 2019.@*Results@#Peer pressure score was (18.72±4.02), subjective support score was (14.76±3.46), objective support score was (10.98±2.53), utilization score for support was (11.20±3.12), self-efficacy score was (36.79±8.00), physical exercise behavior score was (21.72±4.75). Subjective support, objective support, utilization of support, peer pressure, self-efficacy and college students ’ physical exercise behavior were significantly positively correlated(P<0.05). Structural equation model showed that subjective support, objective support, utilization of support, peer pressure, and self-efficacy significantly positively associated with physical exercise behavior,with standardization coefficients of 0.08, 0.12, 0.13, 0.40, 0.90(P<0.05), respectively. Self-efficacy has significant mediating effect on peer pressure, subjective support, objective support, utilization of support and physical exercise behavior of college students used, with standardized effect quantities being 55.36%, 90.73%, 85.88%, 87.92%, respectively.@*Conclusion@#College students’ physical exercise behavior is closely related to social support, peer pressure and self-efficacy. Social support has a significant impact on college students’ physical exercise behavior, and self-efficacy, while self-efficacy and peer pressure all have a positive effect on college students’ physical exercise behavior.

Analysis on current situation of ordinary medical college undergraduates' contact with scientific research at early stage / 中华医学教育探索杂志

Objective To analyze the current situation and influence factors of ordinary medical college undergraduates' contact with scientific research at early stage in order to provide references for scientific research.Methods Totally 1940 students majoring in clinical medicine,imaging,traditional Chinese medicine and nursing (2008 -2010 grade) in China Three Gorges University were enrolled to do questionnaine and SPSS 17.0 was used to do statistical analysis.Results Totally 1653copies of questionnaires were collected from 1940 students,the recovery rate was 85.21％.Two hundred and nineteen students ( 13.25％ ) participated in scientific research,65.28％ students thought college propaganda to be ordinary,95.43％ students got benefits from scientific research.The main influence factors of scientific research were lack of time (23.73％),insufficient knowledge reserves (22.03％) and researchers' own problems (39.73％).Conclusions Medical school should expand the range of scientific research and strengthen propaganda.Medical students should arrange research time and constantly improve their comprehensive ability so as to achieve good results.

Curative effect of lung recruitment maneuvers combined with low tidal volume technique in acute respiratory distress syndrome / 中国医师进修杂志

Objective To study the effects of lung recruitment maneuvers (RM)with different duration combined with low tidal volume (TV)ventilation in acute respiratory distress syndrome (ARDS) with pulmonary and extra-pulmonary origin(ARDSp / ARDSexp). Methods Twenty-six ARDS patients with ventilation were selected including 10 patients of ARDSp (ARDSp group) and 16 patients of ARDSexp(ARDSexp group). All patients were given intermittent high-positive end expiratory pressure (PEEP) combined with low tidal volume RM in the base of usual ventilation. Effects of different duration of RM were evaluated and compared in the patients of ARDSp / ARDSexp. Results MAP decreased and HR increased when sustaining time of RM was above 60 seconds. Significant differences were showed compared with that before treatment. MAP and HR returned to normal after RM stopped.Compared with the state before RM,Pplat and Crs increased immediately after RM (P<0.05). When RM lasted above 60 seconds, Pplat increased significantly compared with that when RM continue lasted 40-59 seconds.But Crs,OI and SpO2 didn't increase obviously. Treatment effects of RM in patients of group ARDSexp were more obviously than those in patients of ARDSp group. There were 1 case of pneumothorax and 3 cases of pneumoderma in ARDSp group and 2 cases of pneumoderma in ARDSexp group when RM lasted above 60 seconds. Conclusions RM with intermittent high-PEEP on low TV is effective to ARDS and best duration is 40～59 seconds. The patients of ARDSexp, with pulmonary interstitial edema as the main pathology, respond better to RM than patients in ARDSp with pulmonary consolidation.

Diagnostic value of me clinical grading methods in acute pulmonary embolism / 中国医师进修杂志

Objective To evaluate the significance of clinical grading methods in acute pulmonary embolism (APE). Methods Clinical data of 259 patients suspected APE were retrospectively analyzed. The clinical probability was classified into low, intermediate and high grade by the Geneva score, the Wells score and the SYSU score. The result was contrasted with gold standard. Results Through the three, methods, pa-tients were classified into low pmbability (43.9%-52.5%), intermediate probability (38.0%-42.1%) and high probability (9.5%-14.0%), and the actual frequencies of APE in each category were 6.2%-14.4% in low probability, 65.9%-76.2% in intermediate probability, 88.5%-90.5% in high probability. The SYSU score had the lowest rate of missed diagnosis in low probability (P<0.05 ).The Geneva score was the most accurate in predicting the intermediate probability (P<0.05). But in high probahility, three prediction rules had no significant difference (P>0.05). Combined with D--dimer test, the rote of missed diagnosis in low probability can be lowered. Conclusions The clinical grading methods can predict the clinical probability of APE. It exists similar accuracy, but has different scope of application. Clinical doctor should choose the ap-propriate grading methods in different patients.