简介:目的对云南3所特殊教育学校聋生人群进行系统性的耳聋临床资料分析,为开展耳聋基因的分子流行病学研究提供参考依据。方法了解聋生详细的耳聋病史;进行全身及耳鼻咽喉常规检查;进行纯音听阂测试及声导抗测试,了解聋生双耳听功能和中耳功能状况。结果聋生耳聋前有耳毒性药物用药史者占8.2%,有家族史者占19.5%,综合征性耳聋占5.3%,耳聋病因不明者亦占较大比例;汉族与非汉族聋生在综合征性耳聋和聋前用药史方面无显著差异,汉族聋生有家族史的比例高于非汉族聋生。结论云南省聋生可能的致聋原因有遗传性聋、药物性聋,但大部分聋生病因不明,尚需借助分子生物学理论和技术,从基因水平进行耳聋病因学的深入研究。。
简介:Cisplatindamagescochlearhaircellsandspiralganglionneuronsthroughcelldeathsignalingpathwaysthatarenotfullyunderstood.Weusedfocusedapoptosisgenemicroarraystostudyearlychangesingeneexpres-sionincochlearculturesfromP3neonatalratstreatedwithcisplatin(0.2mM).After12hoursofcisplatintreat-ment,morethan50%ofthe96genesonthearrayshowedasignificantdecreaseinexpression,consistentwithwidespreadcelldeath.However,after3hoursofcisplatintreatment,10genesshowedsignificantincreaseinex-pressionintotalcochleartissue.Inexperimentswithsubsetsofcochleartissues,at3h,cisplatininducedincreasedexpressionof12genesinthecochlearsensoryepithelium(basilarmembrane)and11genesinthespiralganglion(tissueofRosenthal'scanal,containingthespiralganglion).Theseincludedpro-andanti-apoptoticgenesin-volvedinthep53signalingpathway,TNFreceptorfamily,NF-kappaBpathway,deathdomainfamily,deatheffec-tordomainfamily,Bcl-2family,CARDfamily,TRAFfamily,andGTPsignaltransduction.Althoughthechangesingeneexpressionshowedanoverlapbetweenbasilarmembraneandspiralganglion,otherchanges,whichmayreflecttheuniqueresponseofeachtissue,werealsoobserved.Pifithrin-αblockedcisplatin-inducedup-regulationofgenesinthep53signalingpathwaywhenassayedbybothsuperarrayandrealtimePCR.Thedataaddtoourunderstandingoftheinvolvementofp53incisplatin-inducedototoxicityandotoprotection,conferredbythep53inhibitorPifithrin-α.
简介:NuclearfactorkappaB(NF-κB)isoneofthebest-characterizedtranscriptionfactorsplayingimportantrolesinmanycellularresponsestoalargevarietyofstimuli,includinginflammatorycytokines,phorbolesters,growthfactors,andbacterialandviralproducts.TheaimofthisstudyistodemonstrateNF-κBexpressioninthemousecochleaanditsenhancementinresponsetolipopolysaccharides(LPS)andkanamycin(KA)treatment.MethodsKAtreatmentconsistedofsubcutaneousKAinjectionsat700mg/kgtwiceadaywithaneight-hourintervalbetweenthetwoinjectionsfor3or7days.ForanimalsintheLPStreatmentgroup,asingledoseof0.3mgLPSdissolvedin0.2mlsterilesalinewereinjectedintobothbullaethroughthetympanicmembraneandkepttherefor3hours.Animalsinthecontrolgroupreceivedsubcutaneoussalineinjectionfor7days.Followingimmmunohistochemichalprocessingwithrabbitpolyclonalanti-NF-κBp65antibodies,cryosectionsofthecochleawereexaminedforexpressionofNF-κBp65invariousstructuresinthecochlea.ResultsNF-κBp65expression,identifiedbypresenceofbrownreactionproductscharacteristicofDABimmunohistochemistry,wasvisibleinthespiralligament,spiralprominence,tectorialmembrane(TM),spiralganglionandnervefibers.RelativelyweakNF-κBp65expressionwasalsovisualizedintheorganofCorti.WithintheorganofCorti,theinnerhaircells(IHC),outerhaircells(OHC),innerpillarcells(IP),outerpillarcells(OP),Deiter'scells(DC),andBoettcher'scellsexhibitedstrongerstainingthantheinnersulcuscells,Hensen'scells(HC)andClaudius'cells.NoNF-κBp65expressionwasseeninthenucleusoftheIHCandOHC.NF-κBp65expressionwasincreasedinanimalsexposedtoLPSorKA,demonstratingsignificantdifferencesinthestainingbetweencontrolanimalsandLPS/KA-treatedanimals.NF-κBp65expressionwasnotsignificantlydifferentbetweenLPStreatedandKAtreatedanimalsorbetween3and7daysinKA-treatedanimals.Conclusio
简介:目的评估TsG助听器(GNResoundLive9Ts)改善患者耳鸣的效果,从而检验该技术用于治疗单纯性耳鸣和耳鸣伴有听力障碍患者的可行性和疗效。方法采用耳鸣残疾评估量表(TinnitusHandicapInventory,THI)作为评估素材,分别对9名受试者在TSG助听器配戴前后的耳呜残疾程度进行评估。结果①全部受试者配戴GNResoundLive9TS助听器前后THI总分和各条目得分均有显著性差异(P〈0.0001);②GNResoundLive9TS助听器配戴前后受试者THI的功能性、情感性及严重性得分均得到显著性改善(P〈0.0001)。结论GNResoundLive9TS助听器对单纯耳鸣受试者或耳鸣伴有轻中度感音神经性听力损失者均显示出明显的改善作用。
简介:目的使用RNA-Seq技术分析Miif-m敲除鼠与野生鼠的血管纹转录组,研究Mitf-m基因敲除后的差异表达基因及相关改变的分子机制。方法分别取Miif-m敲除鼠(Mitfmi-△M/mi-△M;MM组)与野生鼠(Miif-m+/+;ww组)的血管纹进行总RNA提取;制备cDNA文库,用IlluminaHiSeq2000测序系统行高通量测序。利用软件Tophat2.2.0将cleanreads比对到参考基因组;分别用软件RSeQS-2.3.2和cufflinks来检测测序结果的均一性和基因表达水平。使用edgeR和DESeq程序筛选差异表达基因(differentialexpressedgenes,DEGs);选择下调DEGs,用KOBAS2.O进行基因本体(geneontology,GO)和京都基因与基因组百科全书(KyotoEncyclopediaofGenesandGenomes,KEGG)代谢途径的富集分析。结果MM组与WW组在参考基因组上mapping的cleanreads数分别为42463888和39718542,分别有88.7%和87.4%的reads是唯一映射,说明RNA-Seq结果可靠。DEGs筛查结果表明,相对于WW组,Mftf-m敲除鼠血管纹有45个DEGs,上调表达基因有7个,下调表达基因有38个。GO富集分析发现下调表达基因与黑色素的合成和代谢过程、色素沉着有关,值得关注的是与内向整流钾离子通道Kcnj10和Kcnj13相关。KEGG富集分析显示下调表达基因主要富集于黑色素生成通路。结论RNA-Seq分析拓展了Mftf-m基因调控网,为探究Mitf-m突变所致听力-色素综合征的分子机制及特异性研究Mitf不同转录子的功能奠定了基础。
简介:目的分析眩晕及平衡功能紊乱病人的前庭自动旋转试验(VestibularAutorotationTest,VAT)检测结果,探讨VAT的临床应用价值。方法对65例眩晕及平衡功能障碍的患者在完成全面临床检查及耳神经功能检查的基础上行VAT测试。结果(1)单侧外周前庭功能损害10例,主要表现为水平前庭一眼反射(VOR)相位延迟及低增益,4例伴有非对称性异常,可伴有垂直VOR相位延迟及增益异常。(2)双侧外周前庭功能低下5例,非对称性均正常,主要表现为垂直VOR相位延迟及增益异常。(3)良性阵发性位置性眩晕(benignpositionalparoxysmalveaigo,BPPV)27例,其中有9例合并噪声性听力损失,主要异常表现为垂直VOR相位延迟和水平或垂直VOR高增益,部分可伴有水平VOR相位延迟。(4)可疑中枢性病变7例,多表现为水平VOR高增益和垂直VOR相位延迟。结论VAT能反应眩晕病人垂直VOR异常以及传统前庭功能检测不能显示的高频水平VOR异常,高频旋转试验是对前庭功能检测技术的发展和完善。
简介:20040635 光学记录蜗核和前庭核核团神经元电活动/杨仕明…//听力学及言语疾病杂志-2003,11(4)-272~274 目的:在神经细胞群的水平上研究脑干蜗核(CN)和前庭核(VN)神经元电活动。方法:自新生小鼠(1~5天)制备离体脑干切片,用吸光性电压敏感染料RH155染色20分钟。采用光学记录膜电位(opticalrecordingmembranepotential)技术,观察电刺激位听神经(第8颅神经,nVIII)后脑干CN和VN的神经电活动。结果:①电刺激nVIII断端后光学记录显示兴奋传导至CN和VN核团(n=40);②CN和VN神经兴奋有激发延迟(onsetlatency)和高峰延迟(peaklatency);③所记录的光学信号具有光吸收波长特性,表明光学记录的可靠性;④光学信号包括峰样快反应信号(spikelikefastsignal)和持续较长时间的慢反应信号(slowsignal);⑤连续刺激nⅧ后发现慢反应信号大小递减,为突触疲劳(synapticfatigue)现象。结论:...