微课在临床医学本科生内分泌与代谢病教学中的应用初探

目的探讨微课在面向临床医学本科生进行内分泌与代谢病教学中的应用及效果。方法随机抽取我校临床医学专业2013级两个班共62名学生作为任课班级,大学前三年两班级的平均成绩差异无统计学意义,分为实验组及对照组,实验组采用传统教学为主、微课为辅的教学方式;对照组采用传统教学方式。教学结束后比较两组学生章节测验成绩,采用问卷调查学生对教学的评价。结果实验组测验成绩高于对照组(P0.05),对微课教学方式的满意度较高。结论以视频为核心的微课教学平台的搭建,可提高内分泌与代谢病的教学效果。     

汉族先天性房室间隔畸形患者GATA-4基因的突变分析

目的 探讨先天性房室间隔畸形患者GATA-4基因突变情况以及其基因型和表现型之间的关系.方法 选择50例汉族先天性房室间隔畸形患者和100名汉族健康者,用聚合酶链反应方法扩增GATA-4基因6个外显子编码区和邻近序列,聚合酶链反应产物纯化后以自动测序仪测序,然后与NCBI数据库中GATA-4基因的序列进行比较.结果 在汉族先天性房窜间隔畸形患者中发现GATA-4基因2个新的杂合子突变,分别位于第2号外显子的His28Tyr和位于第7号外显子的His436Tyr.结论 转录因子GATA-4基因突变可能与汉族先天性房室间隔畸形的发生有关.     

有更多理由提出停止使用格列本脲

除胰岛素外,磺脲类药物是2型糖尿病中使用时间最长的降糖药物.临床研究证实,在精尿病早期采用此类药物治疗,可使患者长期获益.虽然磺脲类药物多为非专利药品而无需商业推广,但医生仍经常为患者处方.虽然如此,不可思议的是其实我们对这类药物知之甚少,尤其是在当今糖尿病的治疗方案中应如何正确应用不同的磺脲类药物.     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

白藜芦醇通过抑制miR-27b表达促进白色脂肪细胞的棕色化功能

目的:探讨白藜芦醇对小鼠原代白色脂肪细胞棕色化功能的影响,研究白藜芦醇调控白色脂肪棕色化功能可能的分子机制?方法:从C57BL/5J小鼠的腹股沟处分离皮下前脂肪细胞,诱导分化后使用不同浓度的白藜芦醇(0~50 μmol/L)刺激48 h,运用RT-PCR检测棕色标志因子基因及相关的miR-27b表达情况?为了验证miR-27b的作用,在细胞内过表达miR-27b,同时予白藜芦醇刺激,运用RT-PCR和Western blot检测相关重要转录因子的基因及蛋白表达?结果:白藜芦醇促进了小鼠原代白色脂肪细胞棕色化功能基因的表达,抑制了原代白色脂肪细胞miR-27b表达,并呈剂量效应?过表达miR-27b显著抑制了白藜芦醇增强棕色化标志基因mRNA表达的作用?在蛋白水平上,过表达miR-27b同样抑制了白藜芦醇增强其靶基因PRDM16和棕色标记基因UCP1蛋白表达的作用?结论:白藜芦醇通过抑制miR-27b表达增强了白色脂肪细胞的棕色化功能,从而为临床有效改善机体能量代谢?防治代谢综合征提供了新策略?