简介：Bell’spalsyisacommonlyseencranialnervediseaseandcanresultincompromisedfacialappearanceandfunctions.Itsetiology,prognosisandtreatmentarestillbeingdebated.Thispaperisareviewofrecentdevelopmentintheunderstandingofetiology,diagnosisandnon-surgicaltreatmentofBell’spalsy.

简介：ObjectiveToscreenformutationsinmyosin-7Agene(MYO7A)inpatientswithprelingualnonsyndromichearingimpairment.Methods31sporadicpatientswithcongenitalhearingimpairmentand65patientsfrom34familieswithprelingualhereditaryhearingimpairmentinChinaweretestedinthisstudy,and100hearingnormalindividualswereusedascontrol.GenomicDNAisolatedfromwholebloodofallsubjectswassubjectedtopolymerasechainreaction(PCR)toamplifyselectedexonsofMYO7Agene.ThePCRproductsweresubsequentlyscreenedusingsinglestrandconformationalpolymorphismanalysis(SSCP)anddirectsequencingwhenthefragmentsshowedanabnormalelectrophoreticpattern.ResultsGgAtransitionatposition617inexon7,whichwouldproduceanA206Gaminoacidsubstitution,wasdetectedintwopatientsbutinnoneoftheunaffectedmembersinthefamilies.ThisheterozygousmissensemutationhappenedwithinahighlyconservedheptapeptidesequenceofMYO7Aprotein,andiscloselyrelevanttopreligualnonsyndromicdeafness.ConclusionsTheA206Gsubstitutionispossiblyanewmutationtocausepreligualnonsyndromichearingimpairment.Ourresultsprovideevidencethatexon7ofMYO7Aisamutationalhotspotingenetichearingimpairment.

简介：Hearingloss(HL)isthemostcommonsensorydisorder,affectingallagegroups,ethnicities,andgen-ders.AccordingtoWorldHealthOrganization(WHO)estimatesin2005,278millionpeopleworldwidehavemoderatetoprofoundHLinbothears.Resultsofthe2002NationalHealthInterviewSurveyindicatethatnearly31millionofallnon-institutionalizedadults(aged18andover)intheUnitedStateshavetroublehearing.Epidemiologicalstudieshaveestimatedthatapproximately50%ofprofoundHLcanbeattributedtogeneticcauses.Withover60genesimplicatedinnonsyndromichearingloss,itisalsoanextremelyhet-erogeneoustrait.Recentprogressinidentifyinggenesresponsibleforhearinglossenablesotolaryngologistsandotherclinicianstoapplymoleculardiagnosisbygenetictesting.Theadventofthe$1000genomehasthepotentialtorevolutionizetheidentificationofgenesandtheirmutationsunderlyinggeneticdisorders.ThisisespeciallytrueforextremelyheterogeneousMendelianconditionssuchasdeafness,wherethemuta-tion,andindeedthegene,maybeprivate.Therecenttechnologicaladvancesintarget-enrichmentmethodsandnextgenerationsequencingofferauniqueopportunitytobreakthroughthebarriersoflimitationsim-posedbygenearrays.Theseapproachesnowallowforthecompleteanalysisofallknowndeafness-causinggenesandwillresultinanewwaveofdiscoveriesoftheremaininggenesforMendeliandisorders.Thisre-viewfocusesondescribinggenotype-phenotypecorrelationsofthemostfrequentgenesincludingGJB2,whichisresponsibleformorethanhalfofcases,followedbyothercommongenesandondiscussingtheim-pactofgenomicadvancesforcomprehensivegenetictestingandgenediscoveryinhereditaryhearingloss.

简介：Objective:Totestforpre-attentiveauditorydiscriminationskillsinIndianclassicalvocalmusiciansandnon-musicians.Design:Mismatchnegativity(MMN)wasrecordedtotestforpre-attentiveauditorydiscriminationskillswithapairofstimuliof/1000Hz/and/1100Hz/,with/1000Hz/asthefrequentstimulusand/1100Hz/astheinfrequentstimulus.Onset,offsetandpeaklatenciesweretheconsideredlatencyparameters,whereaspeakamplitudeandareaunderthecurvewereconsideredforamplitudeanalysis.Studysample:Exactly50participants,outofwhichtheexperimentalgrouphad25adultIndianclassicalvocalmusiciansand25age-matchednon-musiciansservedasthecontrolgroup,wereincludedinthestudy.ExperimentalgroupparticipantshadaminimumprofessionalmusicexperienceinIndianclassicvocalmusicof10years.However,controlgroupparticipantsdidnothaveanyformaltraininginmusic.Results:Descriptivestatisticsshowedbetterwaveformmorphologyintheexperimentalgroupascomparedtothecontrol.MANOVAshowedsignificantlybetteronsetlatency,peakamplitudeandareaunderthecurveintheexperimentalgroupbutnosignificantdifferenceintheoffsetandpeaklatenciesbetweenthetwogroups.Conclusion:Thepresentstudyprobablypointstowardstheenhancementofpre-attentiveauditorydiscriminationskillsinIndianclassicalvocalmusicianscomparedtonon-musicians.ItindicatesthatIndianclassicalmusicaltrainingenhancespre-attentiveauditorydiscriminationskillsinmusicians,leadingtohigherpeakamplitudeandagreaterareaunderthecurvecomparedtonon-musicians.

简介：Hearinglossisoneofthemostcommonbirthdefects,withinheritedgeneticdefectsplayanimportantrole,contributingtoabout60%ofdeafnessoccurringininfants.However,hearingimpairmentisgeneticallyheterogeneous,withbothcommonandrareformsoccurringduetomutationsinestimated500genes.Duetothelargenumberandpresumablylowmutationfrequenciesofthosegenes,itwouldbehighlyexpensiveandtime-consumingtoaddressthisissuebyconventionalgene-by-geneSangersequencing.Next-generationsequencingisarevolutionarytechnologythatallowsthesimultaneousscreeningofmutationsinalargenumberofgenes.Itiscosteffectivecomparedtoclassicalstrategiesoflinkageanalysisanddirectsequencingwhenthenumberorsizeofgenesislarge,andthushasbecomeahighlyefficientstrategyforidentifyingnovelcausativegenesandmutationsinvolvedinheritabledisease.Inthisreview,wedescribemajorNGSmethodologiescurrentlyusedforgeneticdisordersandhighlightapplicationsofthesetechnologiesinstudiesofmoleculardiagnosisandthediscoveryofgenesimplicatedinnon-syndromichearingloss.

简介：Vestibularschwannoma(VS)isaslow-growingbenignneoplasm.TherehasbeenanevolutioninthemanagementofVSfromactivetreatments(microsurgeryandstereotacticradiotherapy)toconservativemanagement(waitandscan).RegularMRIscanningisnecessarytomonitortumorprogression.Conservativemanagementcausessignificantlylesscomplicationsandoffersahigherqualityoflifecomparedwithactivetreatments.ThemeangrowthrateofVSvariesfrom0.4to2.9mm/year,andspontaneousshrinkageisobservedin3.8percentoftumorsduringobservation.Ifsignificantgrowthoccurs,activetreatmentisconsidered.Significantgrowthisdefinedasanincreaseofatleast3mminthelargestextrameataldiameterinanyplanebetweenthefirstandlastavailablescans.Thevestibulocochlearnerveissurroundedbycerebrospinalfluid,whichprovidesnaturalcontrastforMRI;thus,gadoliniummaynotbeneededtodetectVS.Specificsequenceshavehighsensitivity,specificity,andaccuracyfordetectionofprogression.HypointensesignalintheipsilateralinnerearfluidmightbeausefulsigntodistinguishVSfrommeningioma.Inthispaper,wesummarizethecurrentstatusofresearchonconservativemanagementandnon-contrastMRIforthedetectionofVS.

简介：ObjectiveTostudytheefficacyandsafetyoftheJiangTangFangLongJiaoNang(HypoglycemicAnti-DeafnessCapsule)intreatingnon-insulindependentdiabetesmellituswithhearingloss.MethodsTwohundredninetysixpatientswithnon-insulindependentdiabetesmellitusandhearinglosswererandomlyassignedtoatreatmentgroup(n=164,208ears)andacontrolgroup(n=132,184ears).PatientsinthetreatmentgroupweretreatedwiththeJiangTangFangLongJiaoNangandsupplementherbalpreparationsasindicatedbytraditionalChinesemedicinedialecticalassessment,whilecontrolpatientsreceivedglibenclamideandconventionaltreatmentsfordeafness.Hearing,fastingbloodglucose(FBG),post-prandialbloodglucose(PBG),24hoururinesugar,plateletfunctionindices,bloodsuperoxidedismutase(SOD)andlipidperoxides(LPO)levels,andsymptomimprovementwerecomparedbetweenthetwogroups.ResultsTherateofhearingimprovementwas56.7%forthetreatmentgroupand26.6%forthecontrol.FBG,PBGand24hoururinesugarimprovedinbothgroups,butthelasttwoweresuperiorinthetreatmentgroupcomparedtothecontrol.Symptomsimprovementwasalsosuperiorinthetreatmentgroupcomparedtothecontrol.InpatientsreceivingJiangTangFangLongJiaoNangtreatment,plateletfunctionindices,SODandLPOwereallimproved,whileonlyLOPimprovementwasnoticedincontrolpatients.Noacuteorlong-termtoxicitywasdemonstratedfortheJiangTangFangLongJiaoNanginanimaltests.TheJiangTangFangLongJiaoNangloweredbloodglucoseandserumtriglyceridesinaratmodelofalloxan-induceddiabetes.ConclusionTheJiangTangFangLongJiaoNangiseffectiveinimprovinghearinganddiabeticindicesindiabeticpatientswithdeafness,withoutsignificantsideeffects.

简介：ObjectiveTotestCalciumion(Ca2+)flowattheheadandendofouterhaircells(OHCs)inrestingstateandinresponsetoNimodipinetreatment.MethodsNon-invasivemicro-testtechniqueswereusedtostudyCa2+inisolatedOHCsinadultguineapigs.ResultsFourtypesofCa2+transportwereidentifiedinOHCsonbasilarmembranetissuefragments:influxattheheadofwitheffluxatthebottom(type1):effluxattheheadofOHCswithinfluxatthebottom(type2);influxatthebothheadandbottom(type3);andeffluxatthebothheadandbottom(type4).However,onlytype1andtype3ofCa2+iontransportweredetectedinthecochlea.WeproposethatCa2+iontransportexistsinadultguineapigcochlearOHCsinrestingstateandisvariable.Ca2+flowinOHCcanbeinhibitedbyNimodipineinrestingstate.

简介：Objective:Basedontheclinicalmanifestationsofahearinglosspatient,thePOU3F4genewastestedfordiagnosisofetiology.Methods:Acomprehensivephysicalexaminationwasperformedontheprobandtoexcludeabnormalitiesofotherorgans,anddetailedaudiologicaltestingandtemporalboneCTscanwerealsoperformed.GenomicDNAwasextractedusingtheproband’speripheralbloodleukocytes.Polymerasechainreactions(PCR)wereperformedinthecodingsequenceofthePOU3F4gene.DirectDNAsequencingwassubsequentlyappliedtoscreentheentirecodingregionofthePOU3F4gene.Results:Theprobandhadseveresensorineuralhearingloss.TemporalCTshowedbilateralcochlearincompletepartition,vestibuledysplasia,internalauditorycanalfundusexpansion,andcochlearinterlinkwiththeinternalauditorycanalfundus.Anovelmutation(c.530C>A(p.S177X))inthePOU3F4genewasfoundinthispatient,creatingannewstopcodonandwaspredictedtoresultinatruncatedproteinlackingnormalPOU3F4transcriptionfactorfunction.Conclusion:ThroughanalysisofthePOU3F4geneandclinicalmanifestationsinthepatient,weconcludethatanovelmutationmayhaveresultedinaprematurestopcodon,contributingtothemutationofPOU3F4gene.