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：Inmedicallaboratoryanimals,thepigistheclosestspeciestohumaninevolution,exceptforprimates.Asananimalmodel,thepigishighlyconcernedbymanyscientists,includingcomparativebiology,developmentalbiology,medicalgenetics.Rodentsasanimalmodelforhumanhearingdefectshasarepoorproducibilityandreliability,duetodifferencesinanatomicalstructure,evolutionaryrateandmetabolicrate,butthesehappenstobetheadvantagesofthepigmodel.Inthispaper,wewillsummarizetheapplicationofminiaturepiginthestudyofhumanhereditarydeafness.

简介：ObjectiveToestablishalymphocytelinecapableoflongsurvivalandexpressinghumanNT-3tolayafoundationforfutureanimalandhumancochleargenetransfectionresearch.MethodsWecollectedlymphocytesfromnormalhumanbloodviaFicollfluidandaddedIL-2intotheserumculturemediumtopromotelymphocytegrowth.TheNT3cDNAwasobtainedbyRT-PCRandligatedwiththeeukaryonvectorwhichispIRES-DsRed2usingT4DNAenzyme.TheNT3cDNAgenewastransfectedintothelymphocytelineusingcationicliposome(LP2000).ThelymphocytestransfectedwithNT3-cDNAwereexaminedbyRT-PCRandWestern-blotmethods.ResultsWeestablishedanewmethodtoextendinvitrolymphocytessurvivaltimeandtotransfectNT3intolymphocytes.Thegeneticallyengineeredlymphocyteswerecapableofsurvivingoverrelativelylongtime.PositiveproteinsignalswereobtainedbyWesternblot.ConclusionsUsinglymphocytesastheintermediary,recombinedplasmidpIRES-DsRed2NT3isusedtoestablishalymphocytelinethatexpressesandsecretesNT3.Thiscelllinecanbeusedinfutureanimalgenecochleartransfectionresearchandmayhelpfindanintermediarycelllineforgenetherapyforhumandeafness.

简介：ObjectToexploretheproceduresinper-operativeharvestingandmanagementoffreshhumancochlearspecimensforresearch.MethodsDuringtrans-cochlearsurgerytoremovelargepetro-clivalmeningiomascausinglife-threateningcompressiononthebrainstem,cochleaearenormallydestroyedanddrilledawayinordertoreachtheapicalpetrousandclivusregion.Insteadthecochleacanbedissectedoutafterethicalper-missionwasobtainedfromthelocalethicalcommittee(EPN)andallowancegainedfromthepatients.Sur-geryisperformedbyateamconsistingofoto-andneurosurgeonsasatwo-dayprocedurewithtotalpetro-sectomyincombinationwithaninferiorre-routingofthefacialnerve.Fixationofthecochleaewasdoneintheoperatingroomassoonasthespecimenshadbeenseparatedfromthetemporalbones.Decalcificationbeganafterhours’toovernight’sfixationfor4weeks.Sectioningparalleltothemodiolus(mid-modiolus)wasperformedwithacryostatmicrotome.Thesectionsweresubjectedtoimmunofluorescence(IF).ResultsUsingfreshlyprepared4%paraformaldehyde(PFD)solution,adequatefixationoffineinnerearstructureswasachievedwithhours’immersionofthecochlearspecimens.Decalcificationin6.2%ethylenedi-amine-tetraceticacid(EDTA)solutionfor4weeksyieldedathoroughlydecalcifiedcochlea.Experiencesinprocessing14humancochleaeandanalysingmainlandmarksinfivehumaninnerearplastic/siliconecastsshowedthattheovalwindow/stapesfootplatearebackwardtilted,atanangleabout15degrees,fromtheplaneperpendiculartothemodiolaraxis.Thedistancefromthemodiolarapextotheanteriorborderoftheovalwindow/footplateintheseinnerearcastsmeasuredbetween4and5mm.HighqualityIFstainingwasobtained.ConclusionSurgicallyobtainedhumancochlearspecimen,whenproperlyprocessed,containside-allypreservedantigenicityforimmunohistochemicalstudy.Adequateorientationduringsectioninghelpsob-tainoptimalmid-modiolarsectionsshowingfi

简介：Introduction:Otoacariasisisarareinfestationoftheearcanal,whichaffectsthequalityoflifeespeciallyinruralareas.Differenttypesofticksandmitesmaycauseotoacariasis.Althoughtreatmentofotoacariasisissimple,diseasestransmittedthroughticksandmitesshouldbeconsideredduringdiagnosisandtreatment.Bothlocalandsystemicsignsandsymptomsofsuchdiseasesshouldbefollowedup.AliteraturereviewwasconductedinPubMedusingthefollowingterms:'otoacariasis,''ticks,''mites,'and'outerearcanalinfestations.'Demographic,radiologic,andtreatmentoptionswerediscussed.Treatmenthintsandpitfallswerealsodiscussedwiththeliteraturereview.Conclusion:Inthispaper,wedescribeotoacariasisinhumansanddiscusstheappropriateinterventions.

简介：Objective:Totestthefeasibilityofmeasuringfinetemporalbonestructuresusinganewlyestablishedcone-beamcomputedtomography(CBCT)system.Materialsandmethods:Sixformalin-fixedhumancadavertemporalboneswereimagedusingahigh-resolutionCBCTsystemthathas900framesandcoppertaluminumfiltration.Finetemporalbonestructures,includingthoseofthefacialnervecanalandvestibularstructures,wereidentifiedandmeasured.Results:Thefinestructuresofthemiddleear,includingthetympanicmembrane,tendonofthetensortympani,cochleariformprocessofthesemicanalofthetensortympani,pyramidaleminence,footplateofthestapes,fullpathofthefacialnervewithinthetemporalbone,supralabyrinthinespace,semicircularcanals,pathwayofthesubarcuatecanal,andfullpathofthevestibularaqueduct,wereclearlydemonstrated.Thevestibularaqueducthasamidpointwidthof0.4±0.0mmandopercularwidthof0.5±0.1mm(mean±SD).Thelengthoftheinternalacousticmeatuswas10.6±1.2mm(mean±SD),andthediameteroftheinternalacousticmeatuswas3.7±0.3mm(mean±SD).Conclusion:Thisnovelhigh-resolutionCBCTsystemhaspotentiallybroadapplicationsinthediagnosisofinnereardiseaseandinmonitoringassociatedpathologicalchanges,surgicalplanning,navigationfortheearsurgery,andtemporalbonetraining.

简介：Recently,thehumancochleahasbeenshowntocontainnumerousresidentmacrophagesundersteady-state.Themacrophagesaccumulateinthestriavascularis,amongtheauditorynerves,andarealsospottedinthehumanorganofCorti.ThesemacrophagesmayprocessantigensreachingthecochleabyinvasionofpathogensandinsertionofCIelectrode.Thus,macrophagesexecuteaninnate,andpossiblyanadaptiveimmunity.Here,wedescribethemolecularmarkersCD4andCD8ofTcells,macrophagemarkersMHCⅡandCD11b,aswellasthemicroglialmarkersTEME119andP2Y12,inthehumancochlea.Immunohistochemistryandtheadvantageoussuper-resolutionstructuredilluminationmicroscopy(SR-SIM)wereusedinthestudy.CD4~+andCD8~+cellswerefoundinthehumancochleae.Theywereseeninthemodiolusinasubstantialnumberadjacenttothevessels,intheperipheralregionoftheRosenthal’scanal,andoccasionallyinthespiralligament.Whilethereareasurprisinglylargenumberofmacrophagesinthestriavascularisaswellasbetweentheauditoryneurons,CD4~+andCD8~+cellsarehardlyseenintheseareas,andneitherareseenintheorganofCorti.Inthemodiolus,macrophages,CD4~+andCD8~+cellsappearedofteninclusters.InteractionbetweenthesedifferentcellswaseasilyobservedwithSR-SIM,showingcloselyplacedcellbodies,andtheprocessesfrommacrophagesreachingoutandtouchingthelymphocytes.OtherwisetheCD4~+andCD8~+cellsinhumancochleartissuearediscretelyscattered.Thepossiblerolesoftheseimmunecellsarespeculated.