简介:摘要目的探讨中国东北地区汉族人群patatin样磷脂酶域3(PNPLA3)rs738409及跨膜蛋白6超家族2(TM6SF2)rs58542926基因多态性与原发性肝癌发病的相关性。方法采用病例-对照研究,纳入521例原发性肝癌患者作为病例组,164名健康人作为对照组。病例组根据病因学分为有及无肝硬化组。采用聚合酶链反应(PCR)方法分别检测PNPLA3 rs738409及TM6SF2 rs58542926两个位点的基因多态性。对计量资料用t检验、方差分析或U检验,对计数资料用χ2检验或Fisher确切概率法。结果病例组与对照组相比,PNPLA3 rs738409 G等位基因频率分布存在明显差异(OR = 1.583,P = 0.001);进一步分组后显示,除在丙型病毒性肝炎相关性肝癌组中与对照组差异无统计学意义外(P = 0.161),在其他分组中均存在明显差异(P值均< 0.05)。与对照组相比,病例组TM6SF2 rs58542926 T等位基因频率明显高于对照组(OR = 1.759,P = 0.048)。分组后仅合并肝硬化肝癌组CT/TT基因型频率及酒精性相关性肝癌组T等位基因频率与对照组的差异有统计学意义(P值分别为0.045,0.032)。将病例组按照是否携带PNPLA3 rs738409 G等位基因分成CG/GG与CC组;按照是否携带TM6SF2 rs58542926 T等位基因分成CT/TT与CC组,结果显示,CG/GG与CC组及CT/TT与CC组肝脏酶学指标、白蛋白(Alb)、总胆红素(TBil)、甲胎蛋白(AFP)及空腹血糖水平的差异均无统计学意义。将病例组伴有肝硬化的患者根据Child-Pugh评分分为≥7分组与< 7分组,结果显示,PNPLA3 rs738409 CG/GG型与CC型患者的Child-Pugh评分差异及TM6SF2 rs58542926 CT/TT型与CC型患者的Child-Pugh评分差异均无统计学意义(P值均> 0.05)。结论PNPLA3 rs738409及TM6SF2 rs58542926基因多态性在中国东北地区汉族人群中与原发性肝癌的发生存在相关性。PNPLA3 rs738409及TM6SF2 rs58542926基因多态性在原发性肝癌中对肝脏酶学、Alb、TBil、AFP及空腹血糖等指标没有影响。
简介:摘要目的探讨3-甲基戊烯二酸尿症临床特征、基因变异特点及预后。方法回顾性分析2017年2月至2019年2月上海交通大学医学院附属新华医院小儿内分泌遗传科诊治的6例3-甲基戊烯二酸尿症患儿的临床表现、生化资料、基因测序结果及治疗情况,并对患儿进行发育评估。结果6例患儿中男2例、女4例。4例为3-甲基戊烯二酸尿症Ⅰ型,2例为3-甲基戊烯二酸尿症Ⅵ型伴感音性神经耳聋、脑病及Leigh样综合征。5例患儿通过新生儿筛查确诊,1例为发病后临床诊断。4例患儿尚未发病,2例已发病患儿发病年龄分别为1和2日龄,均在新生儿期出现黄疸及呼吸异常等症状。6例患儿尿3-甲基戊烯二酸浓度为22.38~77.09 mmol/molCr,均高于正常切值。检测到2种基因11种变异,其中10种变异未被报道。4例患儿检测到7种AHU基因变异,分别为c.656-2delA、EX5-EX6 Del、c.942+3A>G、c.373C>T p.(R125W)、c.895-3C>G、c.667C>T p.(R223X)和c.894+5G>A,均未报道;2例患儿检测到4种SERAC1基因变异,包括c.548G>A p.(R138Q)、c.442C>T p.(R148X)、c.1339C>T p.(R447X)和c.973dupA p.(M325Nfs*5),仅c.442C>T p.(R148X)为已报道变异。经限制亮氨酸饮食及左卡尼汀治疗后,4例AUH基因变异患儿效果较好,2例SERAC1基因变异患儿治疗效果较差。2例已发病患儿运动发育落后和(或)智力落后,其余患儿发育正常。结论3-甲基戊烯二酸尿症患儿临床异质性明显、病情轻重不一,基因变异多为剪接变异,其次为无义变异、错义变异及移码变异,无亮氨酸饮食及口服左卡尼汀治疗对部分患儿有效,新生儿筛查有助于此病早期诊断、治疗及预后。
简介:摘要白血病(leukemia)是一种源于骨髓的造血干细胞恶性增殖性疾病。PI3K/AKT信号通路是一种胞内传导的信号通路,与肿瘤细胞生存息息相关。本文就PI3K/AKT信号通路与白血病的相关性进行综述。
简介:AbstractObjective:To develop a downloadable three-dimensional (3D) study tool of the membranous labyrinth in order to facilitate the study of benign paroxysmal positional vertigo (BPPV).Background:The diagnosis and treatment of BPPV depend on an understanding of the anatomy of the vestibular labyrinth and its position relative to the head. To date, many illustrations have been made to explain principles of diagnosis and treatment of BPPV, but few have been based on anatomical studies of the membranous labyrinth.Methods:A previously reported 3D model of a human labyrinth was transposed to a 3D development software to allow the creation of markers along the semicircular ducts and utricle. These markers represent otoliths at different positions during movement of the model within the 3D environment. User-friendly tools were created to navigate the model, to allow clear documentation and communication of studied problems, and to study the model across relevant planes. The final model can be downloaded and is available for general useat https://bppvviewer.com/download/.Results:The model allows visualization of true membranous labyrinth anatomy in both ears simultaneously. The dependent portion of each semicircular duct, the planes of the cristae, and the position of the utricle can easily be visualized in any head position. Moveable markers can mark the expected progress of otolith debris with changes in head position and images can be captured to document simulations in various draw styles.Conclusion:This simple model could offer insights that lead to more accurate diagnosis and treatment of BPPV. It may also be useful as a tool to teach BPPV.
简介:摘要 本文介绍了一种3编组70%低地板有轨电车的研制背景、车辆编组型式、铰接型式、曲线通过、车体结构,并对车体强度进行了有限元分析和试验。
简介:摘要:3D打印技术应用近年来突飞猛进,3D打印技术作为一种增材制造方式,利用数据模型,采用逐层打印的方法,进行造型设计、产品试制、个性化生产等。我院为了适应社会的发展,也在近年开设了3D打印技术应用专业。在专业的建设过程中,我们成功申报了3D打印技术应用专业全国示范基地,围绕着专业的定位、培养方向、师资建设、实训室建设等,需要在实践中不断进行探索和调整,思考和总结,以便更好地适应企业和社会的需要。本文对我院3D打印技术应用专业示范基地建设中的经验进行了思考、分析和总结,逐步梳理工作思路,细化工作方法,为后续相关实践活动的开展奠定坚实基础。