培养医学生岗位胜任力，推进临床教学改革

以加强医学本科教育,培养具备较高素质和较强岗位胜任力的医学专业人才为目的,紧紧围绕医学生岗位胜任力这个中心,契合学校医学人才培养目标,进行临床医学专业本科课堂教学改革的探索和研究。通过提高思想认识,发现存在的问题,更新教学理念,改进教学手段,整合利用资源,合理应用信息化教学手段、调整教学评价体系等一系列措施,以突出素质和能力培养为抓手,以期达到提高课堂教学效率,提升教师教学能力,激发学生自主学习能力和拓宽学生国际视野的结果,对全面提高临床医学教学质量、打造具有区域特色的高水平本科教育、全面提高医学人才培养水平有着重要意义。     

ADRB2基因调控区多态性对SABA治疗儿童哮喘急性发作疗效的影响

目的 探究ADRB2基因调控区多态性对短效β2受体激动剂（SABA）治疗儿童哮喘急性发作疗效的影响。方法 选取2016年10月-2020年10月就诊于中国人民解放军北部战区总医院的急性轻中度发作且接受SABA治疗7 d的支气管哮喘患儿127例,检测其基因型分布,比较不同基因型患儿治疗后肺功能指标的改善情况和疗效,并考察基因多态性高阶交互作用对疗效的影响。结果 127例患儿中,rs2895795位点TT、TA、AA型分别有80、44、3例,rs11168070位点CC、CG、GG型分别有93、32、2例,rs12654778位点GG、GA、AA型分别有41、64、22例,均符合Hardy-Weinberg平衡（P>0.05）。治疗后,rs2895795位点TA型患儿的最高呼气流量占预计值百分比（PEF%pred）、用力呼气75%肺活量时的瞬间流量占预计值百分比（FEF75%pred）改善率均显著低于TT型（P<0.05）;rs11168070位点CG型患儿的PEF%pred、FEF75%pred改善率均显著低于CC型（P<0.05）;rs12654778位点GA、AA型...     

二代测序技术检测伴神经内分泌分化乳腺癌的基因突变

目的探讨高通量测序技术在伴神经内分泌分化乳腺癌(breast carcinomas with neuroendocrine differentiation,BCND)分子遗传学中的应用,提高对该肿瘤生物学特性的认识水平。方法使用二代测序(next-generation sequencing,NGS)技术对20例BCND的石蜡包埋组织进行基因突变检测。使用Sanger测序对NGS检测的阳性结果进行验证,并通过qPCR检测对肿瘤中KRAS、PIK3CA、EGFR、BRAF和NRAS基因突变进行对比分析。结果 NGS和qPCR检测发现2例BCND分别存在PIK3CA、H1047R和E542K突变,其中H1047R突变也通过Sanger测序证实。2例PIK3CA突变肿瘤HER-2均阳性。结论高通量NGS技术可用于BCND石蜡标本的基因突变检测,BCND具有不同于非特殊型浸润性乳腺癌的基因突变谱,其PIK3CA突变可能与HER-2阳性相关。     

少见纵隔占位病变螺旋CT表现及其优势解剖分布

目的:探讨少见纵隔占位病变的螺旋CT表现特征及其病理基础,以提高临床认识及诊治水平。方法:回顾性分析经临床病理证实的原发性少见纵隔占位病变的螺旋CT表现,观察和评价肿块内部结构、密度分布、边缘特征、强化特征等CT表现特点及其优势解剖分布。结果:32例少见纵隔肿块中良性22例(68.75%,22/32),恶性10例(10/32,31.25%)。22例良性肿块中密度均匀12例(12/22,54.54%),形态规则16例(16/22,72.72%),边界清楚14例(14/22,63.64%),低密度15例(15/22,68.18%)。10例恶性肿块中密度不均匀7例(7/10,70%),形态不规则8例(8/10,80%),边界不清楚6例(6/10,60%),中等密度6例(6/10,60%)。32例肿块中位于上纵隔12例,前纵隔16例,中纵隔9例,后纵隔11例。良性肿块常累及一个解剖分区(15/22,68.18%),恶性多累及二个区以上(6/10,60%)。结论:不同的少见纵隔肿块具有不同特征CT表现及其好发部位,这与其解剖来源和其组织成分不同有关。     

Whole exome sequencing analysis of 6 children with dilated cardiomyopathy北大核心CSCD

Objective To explore the mutational loci associated with the occurrence of dilated cardiomyopathy (DCM). Methods Six children with DCM and 3 healthy children were recruited through the " Children DCM Susceptibility Gene Research Project" for a prospective study from December 2019 to June 2021. Six patients were aged from 4 months to 14 years, including 5 girls and 1 boy. Three healthy children were aged between 3-13 years, including 2 girls and 1 boy. Whole exome sequencing was performed on the research subjects, and the pathogenic genes were identified by bioinformatics methods. At the same time, the venous blood of the first - degree relatives of the corresponding children was collected, and the region with gene mutations was subjected to next - generation sequencing. Results A total of 4 mutational loci that might be related to DCM were identified. Case 1 was found to have a c. 2011-3C > G mutation in the jounctophiilin - 2 (JPH2) gene. The c. 2011-3 C > G mutation was homozygous (GG) in the child, but heterozygous (CG) in the parents. This child also had a c. G49415A mutation in the titin (TTN) gene. This c. G49415A mutation was homozygous (AA) in the child, but heterozygous (GA) in the parents. Case 4 was found to have a c. G23033A mutation in the TTN gene. The c. G23033A mutation was heterozygous (GA) in both the subject and the father, but a wild type (GG) in the mother. Case 5 was found to have a c. 16975_16978del mutation in the TTN gene. The c. 16975_16978del mutation was heterozygous (TCTTC/T) in the child and the father, but a wild type (TCTTC/TCTTC) in the mother. Conclusions A total of 4 pathogenic gene loci related to the pathogenesis of DCM are identified in this study. The finding enriches the DCM disease gene spectrum and provides targets for the implementation of precision medicine. © 2022 ＣｈｉｎＪＡｐｐｌＣｌｉｎＰｅｄｉａｔ. All rights reserved.     

幼年哮喘大鼠气道重塑各阶段支气管组织感觉神经肽受体表达变化

目的探讨感觉神经肽受体(NK-1R)在幼年哮喘大鼠气道重塑发生、发展中的意义。方法幼年SD大鼠64只,随机分为哮喘组及对照组各32只。哮喘组大鼠采用卵蛋白(OVA)激发法制作哮喘模型,对照组以等剂量生理盐水处理。将各组32只均分为4个亚组,分别于处理2、4、6、8周后采集标本。采用HE染色进行肺组织病理学观察,图像分析系统测定支气管基底膜周径(Pbm)、总管壁面积(WAt)及平滑肌面积(WAm),并用Pbm将测量值标化;样本碱水解法测定肺组织羟脯氨酸水平;免疫组化法、Western blot法检测支气管组织中的NK-1R,Realtime PCR检测NK-1R mRNA。结果 HE染色光镜下观察,哮喘组各亚组支气管病理变化明显,以哮喘8周组最为明显。哮喘组各亚组Wam/Pbm、肺组织羟脯氨酸水平均高于对照组,哮喘4、6、8周组Wat/Pbm高于对照组(P均<0.05),且Wat/Pbm、Wam/Pbm、羟脯氨酸水平哮喘8周组>哮喘6周组>哮喘4周组>哮喘2周组(P均<0.05)。哮喘组各亚组大鼠支气管中NK-1R mRNA及其蛋白表达均高于对照组,且哮喘8周组>哮喘6周组>哮喘4周组>哮喘2周组(P均<0.05)。结论哮喘大鼠气道重塑各所段支气管组织中NK-1R mRNA及其蛋白表达增高。NK-1R可能与哮喘气道重塑的发生、发展有关。     

孟鲁司特治疗及预防2～5岁儿童哮喘的疗效观察

目的 观察孟鲁司特在2～5岁儿童哮喘防治中的效果.方法 66例2～5岁学龄前哮喘患儿完全随机分为治疗组与对照组,各33例.治疗组在常规治疗的基础上加用孟鲁司特,对照组给予辅舒酮气雾吸入,疗程均3个月.结果 急性发作期治疗组疗效优于对照组[症状缓解时间:(4.26±1.57)d比(5.83±1.62)d;肺部体征消失时间:(3.84±1.31)d比(5.25±1.12)d;P＜0.01];急性发作期治疗后患儿外周血嗜酸粒细胞计数治疗组较对照组降低[(0.36±0.12)×109/L比(0.51±0.15)×109/L],差异有统计学意义(P＜0.05);治疗组较对照组复发次数少、无症状时间长、再次发作的病情轻(均P＜0.05).结论 孟鲁司特依从性好,对于2～5岁学龄前儿童轻中度哮喘治疗及预防疗效显著.

Abstract：

Objective To explore the curative and preventive effect of montelukast in 2-5 years old asthmatic children. Motheds Sixty-six cases were randomly assigned as group A (were treated with fluticasone propionate inhalation) and group B (were administrated orally at montelukast). They were treated with routine treatment.The total course of two groups were three month. Results The curative effect of group B was significantly better than that of group A in acute attack of asthmatic children. The relapse, sympto-matic stage, relapse pathocure of group B were significantly better than that of group A. There was significant difference between treatment before and treatment after (symptoms disappearing) that EC of asthmatic children( P ＜0.05 ), There were some differences between group B ahd group A that there were less times that symptoms appeared after treatment. It was a long time that symptoms disappeared. Conclusion The clinical experiments show that montelukast has dramatic efficacy for the 2-5 years old children with low-grade or moderate asthma without any side effects.     

开喉剑喷雾剂治疗小儿鹅口疮的疗效观察

目的：观察开喉剑喷雾剂（儿童型）治疗小儿鹅口疮的临床疗效。方法观察128例鹅口疮患儿,随机分为治疗组和对照组。治疗组应用开喉剑喷雾剂（儿童型）喷口腔;对照组应用氟康唑涂口腔。结果治疗组患儿口腔白膜消失及进食改善时间较对照组明显缩短,有统计学意义（P均〈0.05）。结论开喉剑喷雾剂（儿童型）治疗小儿鹅口疮疗效显著,安全性好。     

吸入布地奈德对幼年大鼠气道重塑的影响

目的:探讨吸入布地奈德对幼年大鼠哮喘气道重塑的影响.方法:幼年SD大鼠随机分为模型组、对照组、布地奈德组,每组8只,采用HE染色和计算机图像分析系统观察测定支气管壁及平滑肌面积,应用样本碱水解法测定羟脯氨酸含量.结果:(1)模型组Wat/Pbm及Wam/Pbm均较对照组增加,差异有显著性(P＜0.01),布地奈德组Wat/Pbm及Wam/Pbm与模型组比较明显减轻(P＜0.05);(2)模型组羟脯氨酸含量高于对照组(P＜0.01),布地奈德组羟脯氨酸含量较模型组明显减少(P＜0.01).结论:早期应用布地奈德,能显著抑制气道壁平滑肌的增厚、胶原沉积.