甘肃省375例非综合征型聋患者聋病易感基因突变检测分析

目的 通过对甘肃省部分非综合征型聋患者进行聋病易感基因筛查,从分子水平了解其遗传病因及特点.方法 采集甘肃省375例非综合征型聋患者的外周静脉血5~10 ml,提取基因组DNA,运用SNPscan技术检测GJB2基因2个外显子36个突变位点、SLC26A4基因21个外显子77个突变位点和mtDNA12SrRNA A1555G及C1494T突变.结果 375例非综合征型聋患者中,23例携带mtDNA12SrRNA A1555G均质性突变(6.13%, 23/375),2例携带mtDNA12SrRNA C1494T均质性突变(0.53%, 2/375);检出GJB2基因突变致聋者42例(11.20%, 42/375),其中纯合突变31例(8.27%, 31/375)、复合杂合突变11例(2.93%, 11/375),GJB2基因单杂合突变携带者25例(6.67%,25/375),c.235delC为最常见的突变类型,等位基因频率为8.80%(66/750);检出SLC26A4基因突变致聋者29例(7.73%, 29/375),其中纯合突变17例(4.53%, 17/375)、复合杂合突变12例(3.20%, 12/375),SLC26A4基因单杂合突变携带者14例(3.73%,14/375),c.919-2A>G和c.2168A>G为其最主要的突变类型,等位基因频率分别为5.20%(39/750)和2.0%(15/750).结论 甘肃省部分非综合征型聋患者mt DNA12SrRNA A1555G突变检出率明显高于全国水平(2.83%,57/2016),而GJB2、SLC26A4基因突变检出率与全国水平相近;三个常见聋病易感基因筛查可为25.60%的本组耳聋患者提供明确的分子病因学诊断.     

咽鼓管置管对预防鼻咽癌放疗后分泌性中耳炎的作用

目的 探讨咽鼓管置管在预防鼻咽癌（nasopharynged carcinoma，NPC）放疗后分泌性中耳炎（secretory otitis media，SOM）中的价值。方法 将60例NPC患者随机分成两组，每组各30例，一组患者在鼻内窥镜下经咽鼓管置管为实验组。另一组不置管者为对照组。两组患者均接受常规放射治疗，分析两组患者放疗中和放疗结束后第1天及第3个月时SOM发生率的差异及原因。结果 放疗量过半时，实验组2例发生SOM（6．67％），对照组5例发生SOM（16．67％），差异无统计学意义（χ^2=1．456，P=0．228）。放疗结束第1天实验组6例（20．00％）发生SOM，对照组14例（46．67％）发生SOM，差异有统计学意义（χ^2=4．800，P=0．028）。放疗结束第3个月实验组8例（26．67％）发生SOM，对照组16例（53．33％）发生SOM，差异有统计学意义（χ^2=4．444，P=0．035）。结论 咽鼓管置管能有效地降低NPC患者放疗后SOM的发生率。     

甲状腺腺叶切除术精细化操作技术临床结果初步报告

目的 回顾总结集程序化、精细化操作与质控为一体的甲状腺腺叶切除术外科模式在甲状腺全切除术中临床应用结果.方法 2013年5月至2014年8月应用该外科模式实施甲状腺全切除72例,按程序化的设计和步骤进行精细化操作完成手术,对手术切口、手术时间、术中出血量、术中重要结构保护、切口愈合、术后并发症、患者满意度情况进行总结.结果 颈部第二皮纹切口更符合患者立位的社会属性;一侧腺叶手术时间30 ～ 50 min;出血约2～5 ml;无喉上神经损伤,出现暂时性喉返神经麻痹4侧,术后3～4周均自行恢复;暂时性甲状旁腺功能减退10例,术后4～6周自行恢复;切口均一期愈合;手术切口非常满意66例,满意4例,可接受2例.结论 集程序化、精细化操作与质控为一体的甲状腺腺叶切除外科模式对甲状腺手术的实施是一种良好的外科模式,对标准化流程的建立、质控和临床教学均有积极的推动作用.     

Super-resolution immunohistochemistry study on CD4 and CD8 cells and the relation to macrophages in human cochlea

Recently, the human cochlea has been shown to contain numerous resident macrophages under steady-state. The macrophages accumulate in the stria vascularis, among the auditory nerves, and are also spotted in the human organ of Corti. These macrophages may process antigens reaching the cochlea by invasion of pathogens and insertion of CI electrode. Thus, macrophages execute an innate, and possibly an adaptive immunity. Here, we describe the molecular markers CD4 and CD8 of T cells, macrophage markers MHCII and CD11b, as well as the microglial markers TEME119 and P2Y12, in the human cochlea. Immunohistochemistry and the advantageous super-resolution structured illumination microscopy (SR-SIM) were used in the study. CD4⁺ and CD8⁺ cells were found in the human cochleae. They were seen in the modiolus in a substantial number adjacent to the vessels, in the peripheral region of the Rosenthal's canal, and occasionally in the spiral ligament. While there are a surprisingly large number of macrophages in the stria vascularis as well as between the auditory neurons, CD4⁺ and CD8⁺ cells are hardly seen in these areas, and neither are seen in the organ of Corti. In the modiolus, macrophages, CD4⁺ and CD8⁺ cells appeared often in clusters. Interaction between these different cells was easily observed with SR-SIM, showing closely placed cell bodies, and the processes from macrophages reaching out and touching the lymphocytes. Otherwise the CD4⁺ and CD8⁺ cells in human cochlear tissue are discretely scattered. The possible roles of these immune cells are speculated.     

Fecal transplantation can alleviate tic severity in a Tourette syndrome mouse model by modulating intestinal flora and promoting serotonin secretion

Background: Tourette syndrome (TS) is a neuropsychiatric disorder with onset in childhood that warrants effective therapies. Gut microbiota can affect central physiology and function via the microbiota-gut-brain axis. Therefore, the gut microbiota plays an important role in some mental illnesses. A small clinical trial showed that fecal microbiota transplantation (FMT) may alleviate TS symptoms in children. Herein, FMT effects and mechanisms were explored in a TS mouse model.Methods: TS mice mod...     

Expert consensus on treating esophageal stenosis in children by magnetic recanalization

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腺病毒介导酸性成纤维生长因子对兔角膜内皮细胞感染及促增殖作用的实验研究

目的　观察复制缺陷型重组腺病毒载体介导酸性成纤维生长因子 (aFGF)对体外培养的兔角膜内皮细胞 (RCEC)的感染效率和促增殖作用。方法　 2 93A细胞扩增复制缺陷型重组腺病毒 ,选用细胞半数感染剂量 (TCID50 )法测定病毒滴度。体外培养RCEC ,用携带报告基因 (LacZ)的重组腺病毒 (Ad LacZ)感染RCEC ,二甲基甲酰胺 (X gal)染色估计瞬时感染效率 ,将含aFGF的重组腺病毒 (Ad aFGF)感染RCEC ,RT PCR、Westernblot分别检测aFGF转录及蛋白质表达情况 ,噻唑盐 (MTT)法检测转基因细胞增殖情况。结果　病毒滴度为 2× 10 8pfu/ml;重组腺病毒感染RCEC 2 4h后即可检测到外源基因表达 ,当感染倍数 (MOI)值等于 2 0时 ,Ad LacZ对RCEC的感染效率为 10 0 % ,感染Ad aFGF对RCEC增殖有促进作用 (F =2 17.10 7,P <0 .0 5 )。结论　复制缺陷型重组腺病毒载体介导的外源基因在RCEC中可有效表达 ,感染Ad aFGF对RCEC增殖具有促进作用。     

正常人眼眶脂肪及眼外肌中抵抗素的表达

目的了解抵抗素在人眼眶脂肪组织及眼外肌组织中mRNA及蛋白表达情况。方法RT-PCR法检测人眼眶脂肪组织及眼外肌组织中抵抗素mRNA的表达情况；免疫组织化学法检测抵抗素蛋白在人眼眶脂肪组织及眼外肌组织中的表达。结果PCR产物电泳结果示抵抗素产物片段约500bp，脂肪组织中含量高于眼外肌组织。抵抗素蛋白表达位于胞浆，免疫组织化学显示人眼眶脂肪组织及眼外肌组织中有抵抗素蛋白存在。结论在人眼眶脂肪组织及眼外肌组织中可检测到抵抗素mRNA及蛋白的表达，抵抗素可能与眼眶炎性疾病，如Graves眼病、炎性假瘤等有一定的关系。