Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.

Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).

Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.     

基于网络药理学的济脉通片降压机制研究

目的 采用网络药理学阐明济脉通片多成分-多靶点-多途径的作用理念，为进一步研究济脉通片降压药效物质基础和机制提供一定理论参考。方法 通过TCMSP数据库，结合口服利用度（≥ 30%）和类药性分析（≥ 0.18）参数，筛选济脉通片的活性成分；通过Drugbank和TCMSP数据库进行靶点预测分析；通过GENCARD数据库筛选出高血压疾病相关基因；结合DAVID和KEGG数据库进行GO分析和通路分析；使用Cystoscope软件构建"化合物-靶点-作用通路"网络图。结果 经筛选后得到济脉通片的33个化合物，148个潜在靶基因并映射到了223条信号通路，其中31条信号通路与高血压的发生发展密切相关，其中AGE-RAGE signaling pathway in diabetic complications、PI3K-Akt signaling pathway、TNFsignaling pathway、Adrenergic signaling in cardiomyocytes和Focal adhesion为重要的通路枢纽。结论 济脉通片主要通过多成分、多靶点、多通路调节血管内皮功能、炎症反应、钙钠离子转运、糖脂代谢等参与血管舒张、改善炎症、调节机体代谢、调节离子转运等而产生降压作用。     

肛肠疾病手术前后肛管直肠压力测定的应用

目的:探讨肛肠疾病手术前后肛管直肠压力测定的应用。方法:将2018年5月-2019年5月在上海市松江区方塔中医医院及上海中医药大学附属曙光医院肛肠科行手术治疗的826例肛肠疾病患者作为研究对象,其中,选择性痔上黏膜吻合术246例、单纯外剥内扎术115例、外剥内扎结合内痔套扎术(Automatic Ligation of Hemorrhoids,RPH)153例、低位肛瘘切除术177例、高位肛瘘切开挂线术135例,分别于术前及术后1个月测定肛管直肠压力。结果:选择性痔上黏膜吻合术后直肠静息压、肛管静息压明显低于术前,肛管舒张压高于术前(P<0.05),但肛管最大收缩压与术前相比无明显差异(P>0.05);单纯外剥内扎术术后直肠静息压、肛管静息压明显低于术前,肛管舒张压、肛管最大收缩压明显高于术前(P<0.05);外剥内扎结合内痔套扎术术后直肠静息压、肛管静息压明显低于术前,肛管舒张压、肛管最大收缩压明显高于术前(P<0.05);低位肛瘘切除术术后直肠静息压、肛管静息压、肛管舒张压均高于术前(P<0.05),而肛管最大收缩压与术前相比无明显差异(P>0.05);高位肛瘘切开挂线术术后直肠静息压高于术前,肛管静息压、肛管舒张压低于术前(P<0.05),而与肛管最大收缩压术前相比无明显差异(P>0.05)。结论:肛肠疾病手术前后肛管直肠压力测定的应用效果显著,能准确判断手术效果及患者恢复情况,为医师的进一步诊治奠定了良好基础。     

临床实习生对患者隐私的认知及保护情况调查

目的了解临床实习生对患者隐私的认知以及在临床实践中对患者隐私的保护情况,探讨患者隐私教育及临床实习中存在的问题,分析成因并提出加强患者隐私教育、引导实习生合理获取患者隐私的具体建议,以改善临床医学教育过程中存在的薄弱环节。方法随机选取海军军医大学等5所医学院校的572名临床医学实习生为调查对象,发放调查问卷。主要内容包括实习生隐私教育评分、对于隐私保护法及隐私具体范围的知晓情况、临床实践中是否泄露隐私、隐私与临床诊疗等方面,调查结果采用SPSS 21.0软件进行分析。结果27.6%实习生曾发生过泄露患者隐私的情况,58.9%实习生不了解隐私相关法律法规及隐私具体范围,95.4%实习生认为出于诊疗目的而获取患者隐私信息很有必要,但仍有56.6%实习生曾回避涉及患者隐私的医疗活动。结论临床医学实习生的教育中患者隐私教育相对欠缺并有待进一步加强。实习生应当自觉保护患者隐私,维护患者利益,并树立对于患者隐私的合理认知,从患者隐私中提取有价值的信息。