简介：ObjectiveThestudyistoidentifythecarrierrateofcommondeafnessmutationinChinesepregnantwomenviadetectingdeafnessgenemutationswithgenechip.MethodsThepregnantwomeninobstetricclinicwithouthearingimpairmentandhearingdisordersfamilyhistorywereselected.Theinformedconsentwassigned.PeripheralbloodwastakentoextractgenomicDNA.Applicationofgeneticdeafnessgenechipfordetecting9mutationalhotspotofthemostcommon4Chinesedeafnessgenes,namelyGJB2(35delG,176del16bp,235delC,299delAT),GJB3(C538T),SLC26A4(IVS72A>G,A2168G)andmitochondrialDNA12SrRNA(A1555G,C1494T).Furthergenetictestingwereprovidedtothespousesandnewbornsofthescreenedcarriers.ResultsPeripheralbloodof430pregnantwomenweredetected,detectionofdeafnessgenemutationcarriersin24cases(4.2%),including13casesoftheGJB2heterozygousmutation,3casesofSLC26A4heterozygousmutation,1casesofGJB3heterozygousmutation,and1caseofmitochondrial12SrRNAmutation.18spousesand17newbornstookfurthergenetictests,and6newbornsinheritedthemutationfromtheirmother.ConclusionThecommondeafnessgenesmutationhasahighcarrierrateinpregnantwomengroup,235delCandIVS7-2A>Gheterozygousmutationsarecommon.

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简介：Geneticdefectsareoneofthemostimportantetiologiesofseveretoprofoundsensorineuralhearinglossandplayanimportantroleindeterminingcochlearimplantationoutcomes.Whilethepathogenicmutationtypesofanumberofdeafnessgeneshavebeencloned,thepathogenesismechanismsandtheirrelationshiptotheoutcomesofcochlearimplantationremainahotresearcharea.Theauditoryperformanceisconsideredtobeaffectedbytheetiologyofhearinglossandthenumberofsurvivingspiralganglioncells,aswellasothers.Currentresearchadvancesincochlearimplantationforhereditarydeafness,especiallytherelationshipamongclinic-types,genotypesandoutcomesofcochlearimplantation,willbediscussedinthisreview.

简介：MitochondrialtRNAmutationsareoneoftheimportantcausesofbothsyndromicandnon-syndromicdeafness.Ofthose,syndromicdeafness-associatedtRNAmutationssuchastRNALeu(UUR)3243A>Gareoftenpresentinheteroplasmy,whilenon-syndromicdeafness-associatedtRNAmutationsincludingtRNASer(UCN)7445A>Gareofteninhomplasmyorinhighlevelsofheteroplasmy.ThesetRNAmutationsaretheprimarymutationsleadingtohearingloss.However,othertRNAmutationssuchastRNAThr15927G>AandtRNASer(UCN)7444G>AmayactinsynergywiththeprimarymitochondrialDNAmutations,modulatingthephenotypicmanifestationoftheprimarymitochondrialDNAmutations.ThesestRNAmutationscausestructuralandfunctionalalteration.AfailureintRNAmetabolismcausedbythesetRNAmutationsimpairedmitochondrialtranslationandrespiration,therebycausingmitochondrialdysfunctionsresponsiblefordeafness.Thesedataoffervaluableinformationfortheearlydiagnosis,managementandtreatmentofmaternallyinheriteddeafness.

简介：ObjectiveTostudytheroleofdiureticagentsintreatingsuddendeafness(SD)andexplorethepossibilityofendolymphatichydropsasapotentialcauseofSD.MethodsTwenty-eightSDcaseswerereviewed.In23cases,treatmentwasinitiatedwithroutineagents.Diureticagentswerelateraddedin8ofthesecasesthatfailedtorespondtoroutinetreatmentagents.Diureticagentswereincludedintheinitialtreatmentintherest5cases.Intotal,13casesreceiveddiureticsinadditiontoroutinetreatmentagentsand15casesreceivedconventionaltreatmentonly.ResultsInthe8caseswhoreceiveddiureticsafterfailedconventionaltreatments,4showedhearingimprovement,whereasall5casesinwhichdiureticswereincludedintheinitialtreatmentdemonstratedhearingimprovement.ConclusionTheseresultssuggestapossibleroleofendolymphatichydropsinthepathophysiologiccourseofSD.Diureticsshouldbeconsideredwhenclearindicationsexistwithnoconflictstoothermedicalconditions.

简介：Eachcomponentofthehumanearperformsaspecificfunctioninhearing.Theactualprocessofsoundtransductiontakesplaceintheauditoryportionoftheinnerear,thefluid-filledcochlea.Inthecochlea,thesensitivityandefficiencyofsensoryapparatustoconvertmechanicalenergyintoneuralactivity,largelydependsonthefluidicandionicenvironment.Inthelateralwallofcochlea,thesecretoryepitheliumstriavascularisplaysanimportantroleinthemaintenanceoffluidicandionichomeostasis.Avarietyofgenemutationsdisturbsthecochlearhomeostasisandsubsequentlyleadstohearingimpairment.Thereviewcoversseveralaspectsofcochlearhomeostasis,fromcochlearfluidandthefunctionalroleofstriavascularis,cochlearK+recyclinganditsmolecularsubstratestogeneticdeafnesswithabnormalcochlearhomeostasis.

简介：ObjectiveTostudyconcomitantsymptomsanddiseaseconditionsinsuddendeafness.MethodsClinicaldataof418casesofsuddendeafnesstreatedinthisdepartmentfrom2000to2007werereviewed.ResultsOfthe418cases,201weremalesand217werefemales.Rightearwasinvolvedin184casesandleftearin191cases.Bilateralinvolvementwasseenin43cases.Theaverageagewas44.1years.Tinnituswasreportedin369cases(88.3%)eitherbeforeorafterhearingloss,ofwhich64.5%wasoflowpitch,27.1%ofhighpitchand8.4%ofmixedtones.Constanttinnituswasreportedin83%ofthecases,andmuffledfeelingsin33.3%ofthecases.Hearinglosswastheonlycomplaintin221cases(52.9%).Dizzinesswasreportedin77cases(18.4%)andvertigoattacksin120cases(28%).Hypertension,coronaryarterydiseaseanddiabeteswerefoundin19.6%of418casesandhyperlipidemiain54.5%of211cases.CTand/orMRIdatawereavailablein147cases,withpositivefindingsin18cases(12.3%):2withacousticneuroma(1.36%);4withemphraxisinthebasalganglia,cerebellum,temporallobeorparietallobe,and12withpoorpneumatizationofipsiorcontralateralmastoidcells.ConclusionInthiscaseseriesofsuddendeafness,low-pitchconstanttinnituswasacommoncomplaint.Mostofthestudiedcasespresentedwithsimplehearingloss.Vertigoattacksweremorecommonthandizzinessinthisgroupofpatients.Themostcommonconcomitantdisorderwashyperlipidemia,especiallyhightriglycerides.Imagingstudiesareimportantinmanagingsuddendeafnessinrulingoutacousticneuromaandotherintracranialdiseases.

简介：Yifeng(TE17),Tinghui(GB2),Zhongzhu(TE3)andXiaxi(GB43)wereselectedaskeyacupointsplushyperbaricoxygentotreat50casesofsuddendeafness,andthetotaleffectiveratewas98%.

简介：MutationsinmitochondrialtRNAgeneshavebeenshowntobeassociatedwithmaternallyinheritedsyn-dromicandnon-syndromicdeafness.Amongthose,mutationssuchastRNALeu(UUR)3243A>Gassociatedwithsyndromicdeafnessareoftenpresentinheteroplasmy,andthenon-syndromicdeafness-associatedtRNAmu-tationsincludingtRNASer(UCN)7445A>Gareofteninhomoplasmyorinhighlevelsofheteroplasmy.ThesetRNAmutationsaretheprimaryfactorsunderlyingthedevelopmentofhearingloss.However,othertRNAmutationssuchastRNAThr15927G>AandtRNASer(UCN)7444G>Aareinsufficienttoproduceadeafnessphe-notype,butalwaysactinsynergywiththeprimarymitochondrialDNAmutations,andcanmodulatetheirphenotypicmanifestation.ThesetRNAmutationsmayalterthestructureandfunctionofthecorrespondingmitochondrialtRNAsandcausefailuresintRNAsmetabolism.Thereby,theimpairmentofmitochondrialproteinsynthesisandsubsequentdefectsinrespirationcausedbythesetRNAmutations,resultsinmitochon-drialdysfunctionsandeventuallyleadstothedevelopmentofhearingloss.Here,wesummarizedthedeaf-ness-associatedmitochondrialtRNAmutationsanddiscussedthepathophysiologyofthesemitochondrialtRNAmutations,andwehopethesedatawillprovideafoundationfortheearlydiagnosis,management,andtreatmentofmaternallyinheriteddeafness.

简介：Objective::Toexplorethevalueofacombinedcomputedtomography(CT)andmagneticresonanceimaging(MRI)inevaluatingprofoundsensorineuraldeafnesspatientsbeforecochlearimplant(CI)surgery.Methods:Aretrospectiveanalysisof1012casesofprofoundsensorineuraldeafnessthatreceivedCIwasperformed.Results:Atotalof96caseswerediagnosedwithinnerearabnormalitiesincludinglargevestibularaqueductsyndrome(LVAS,n?61),Micheldeformity(n?3),cochlearincompletepartitionI(n?2),cochlearincompletepartitionII(n?6),cochlearhypoplasiawithvestibularmalformation(n?3),cochlearossification(n?3),bilateralinternalauditorycanalobstruction(n?5)andinternalauditorycanalstenosis(n?2).Conclusion:HighresolutionCT(HRCT)candisplaybonystructureswhileMRIcanimagethemembranouslabyrinthinpreoperativeevaluationforcochlearimplantation.Thecombinationofthesetwomodalitiesprovidesreliableanatomicalinformationregardingthebonyandmembranouslabyrinths,aswellastheauditorynerve.

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简介：Itisknownthataminoglycosideantibioticscandamagethevestibularandauditorysensoryepithelia,andtheloopdiureticscanenhancetheototoxiceffectofaminoglycosides.Previousstudiesonthesynergisticeffectofthesetwotypesofdrugshaveusedmice,guineapigsandcats,butnotrats.Theaimofthisstudywastodeterminethissynergisticeffectsinratcochleae.Ratsreceivedintravenousinjectionsofdifferentdosesoffurosemideand/orintramuscularinjectionsofkanamycinsulfate.Auditorybrainstemresponse(ABR),scanningelectronmicroscopy(SEM)andimmunocytochemistrywereusedtodeterminetheeffectsofdrugadministration.Inthegroupreceivingcombinedadministrationoffurosemideandkanamycin,theABRthresholdshowedsignificantelevation3daysafterdrugadministration,greaterthansingledrugadministration.Thehaircellsshowedvariousdegreesofinjuryfromtheapicalturntothebasalturnofthecochleaandfromtheouterhaircellstotheinnerhaircells.Neuronfibersofthehaircellsshowedsignificantloss7daysafterthedrugadministration,butthenumberofspiralgangliadidnotdecreaseandsupportingcellsshowednosignsofinjury.Ourstudysuggestthatcombinedadministrationoffurosemideandkanamycinhasansynergisticototoxiceffect,andcanresultinhaircelllossandhearinglossinrats.

简介：ObjectiveTocomparedifferenttreatmentprotocolsforsuddendeafness(SD),forthepurposeofidentifyinganappropriateapproachtoSD.MethodsAtotalof104patientswithdiagnosisofsuddenhearinglosstreatedfromJan2006toDecember2008wereincludedinthisstudy,ofwhich31receivedthetypicalpharmaceuticaltreatment(groupⅠ),40receivedthetypicalpharmaceuticaltreatmentpluspolarizedliquid(GroupⅡ)and33receivedthehyperbaricoxygeninadditiontothetreatmentincludedinGroupⅡ(GroupⅢ).ResultsThetotalimprovementrate(67.74%,62.50%and75.76%forGroupsⅠ,ⅡandⅢrespectively)wasnotstatisticallydifferentbetweenthethreegroups(P>0.05).ConclusionThethreetreatmentprotocolsaresimilarwhenjudgedbythetreatmentoutcomesinSD,neitherbeingsuperiortotheothers.Thetwoimportantfactorsthatappeartoinfluencetreatmentoutcomesaretheaudiogrampatternanddurationofhearinglossbeforeseekingtreatment.Patientswithupslopingorpeak-typeaudiogramsandtreatedwithin7daysfromtheonsethavebetterprognosisthanothers.

简介：DoctorHUAXue-gui,anassociatechiefphysicianinShanghaiResearchInstituteofAcupunctureandMeridian,hasbeenengagedinclinicalpracticeandscientificresearchofacupunctureforover30years.Shehascreatedasetofuniqueandcompleteacupuncturemodalitiesforneurotictinnitusand

简介：ObjectiveToinvestigateGJB2mutationprevalencesintheUigurandHanethnicgroupsinXinjiang,China,anddeterminetherelationshipbetweenethnicityandGJB2genemutations.MethodsInformationregardingethnicityofpatients'familieswasobtainedthroughmedicalrecordsreviewand/orpatientinterview.Bloodsampleswerecollectedfrom61Uigursand66Hansfordirectsequencingofthecodingregionandintron/exonboundariesoftheGBJ2gene.ResultsCarrierfrequencyofGJB2mutationswassimilarbetweentheUigurandHansubjects.TheGJB235delGmutationwasseenonlyinUigurpatientswithhearingloss,whereasthe235delCmutationwasidentifiedinbothUigurandHanpatients.TheallelicFrequencyof35delGmutationwas7.4%(9/122)inUigurdeafstudents,butnoneinHandeafstudents(0/128)andUigurcontrols(0/196).TheallelicfrequencyofGJB2235delCmutationinUigurandHandeafstudentswas5.7%and9.8%,andthatof299-300delATmutationwas0.8%and5.5%,respectively.V27IandE114Gwerethemostfrequenttypesofpolymorphism.ConclusionWefoundanAsian-specificGJB2diversityamongUigurs,andcomparableGJB2contributiontodeafnessinUigurandHanpatients.Thehighcarrierfrequencyof35delGinUigurs(11.5%)isprobablydefinedbygenedrift/foundereffectinaparticulargroup.EventhoughGJB2mutationshavebeenwidelyreportedintheliterature,thisdiscussionrepresentsthefirstreportofGJB2mutationsinChinesemulti-ethnicpopulations.

简介：Objective:ToinvestigatethemembranelocalizationfunctionoftheCX26proteinwhenits86thaminoacidisThr,SerorArg,anditsrelationstodeafness.Methods:CX26-GFPproteinwitheitherThr,SerorArgasthe86thaminoacidwasexpressedinmouseSGNcellsviatheGFPfusiontypelentivirusexpressionsystem.Themembranelocalizationofthefusionproteinwasobservedunderafluorescencemicroscope.Results:ThemutatedproteinofCX26T86Swaslocalizedtocellmembraneandformgapconjunctionstructures,showingnodifferencetothewildtypeCX26protein(withThrasthe86thaminoacid).However,thegapconjunctionstructuredisappearedwhenthemutationwasCX26T86A.Conclusion:TheseresultsindicatethattheCX26T86Rmutationmaybeacauseofhearingloss,butCX26T86Sasanon-pathogenicpolymorphismmutationdoesnotaffectfunctionsoftheCX26protein.Theresultsareinaccordancewiththeresultsofclinicalscreening.

简介：Objective:Todeterminewhetheranew-bornchildfromafamilycarryingadeafnessgeneneedscochlearimplantationtoavoiddysphoniabyscreeningandsequencingadeafness-relatedgene.Results:BothscreeningandsequencingresultsconfirmedthatthenewbornchildhadanormalGJB2genedespitethefactthatshehasabrothersufferingfromhearinglosstriggeredbyanallelicGJB2c.176del16mutation.WeclonedtheGJB2genesderivedfromtheirrespectivebloodgenomicDNAintoGFPfusedplasmidsandtransfectedthoseplasmidsintothe293Tcelllinetotestforgenefunction.WhilethemutatedGJB2gene(GJB2c.176del16)ofherdeafbrotherwasfoundtobeunabletoformthegapjunctionstructurebetweentwoadjacentcells,thebabygirl’sGJB2generanintonosuchproblems.Conclusion:ThescreeningandsequencingaswellastheGJB2genefunctiontestsinvariablyshowedresultsconsistentwiththeABRtestedhearingphenotype,whichmeansthatthechild,withanormalwildtypeGJB2gene,doesnotneedearlyinterventiontopreventherfromdevelopinghearinglossanddysphoniaatalaterstageinlife.

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简介：LedbyfourgenerationsofleadershipfromlateProf.JIANGSichang(academician,ChineseAcademyofEngineering),Prof.YANGWeiyan(HonoraryPresident,DivisionofOtolaryngologyHeadandNeckSurgery,ChineseMedicalAssociation),Prof.HANDongyi(PresidentElected,DivisionofOtolaryngologyHeadandNeckSurgery,ChineseMedicalAssociation)tonowProf.YANGShiming(President,DivisionofOtolaryngologists,