简介:AIM:Tostudyclinicalfeaturesandgenemutationswithinthepaired-likehomeodomaintranscriptionfactor2(PITX2)geneinapedigreeofbilaterallimbaldermoids.METHODS:Completeeyeexaminationshavebeenperformedoneachindividualofthefamily.Exonsofpaired-likehomeodomaintranscriptionfactor2(PITX2)wereamplifiedbypolymerasechainreaction,sequenced,andcomparedwithareferencedatabase.RESULTS:Wedescribedthephenotype,clinicfindingsinafamilywithtwoaffectedmembers.Themassesoftheproband’seyeswereexcisedsurgicallydemonstratingadermoidcystbyhistopathologicalexamination.NomutationwasdetectedinthegenePITX2inthispedigree.CONCLUSION:Afamilyoflimbaldermoidcystwasreported.Inaddition,nopathogenicsequencevariationswerefoundinPITX2,indicatingthatthisphenotypeinthisfamilyisadistinctiveentity.
简介:·Glaucomaisoneoftheleadingcausesofvisualimpairmentandblindnessworldwide.Ofknownriskfactorsforglaucoma,anincreasedinintraocularpressureismosthighlycorrelatedwithglaucomatousdamage.Irrespectiveofthecause,apoptosisoftheretinalganglioncellsistheeventualoutcome.Itiswidelyacceptedthatglaucomaisaneurodegenerativediseasethatisstronglycorrelatedwithcentralnervoussystemdisorders,suchasAlzheimer’sdisease.Thesetwodisordersalsosharesomesimilaritiesinpathogenicmechanisms.Recentstudiessuggestthatthetransientreceptorpotentialcanonical6channelcouldworktogetherwithbrain-derivedneurotrophicfactortopromoteneuronsurvivalinbrainandretina.Inthisstudy,weproposethattransientreceptorpotentialcanonical6maycontributetothepathogenesisofhumanglaucomaandbecomeapotentialtherapeutictarget.
简介:AIM:ToidentifythegeneticdefectinaChinesefamilywithbilateralprogressivechildhoodposteriorcataract.METHODS:Atwo-generationfamilywasrecruitedinthisstudy.Familyhistoryandclinicaldatawererecorded.AllreportedcandidategenesassociatedwithcongenitalposteriorcataractwerescreenedbydirectDNAsequencing.·RESULTS:Allaffectedindividualspresentedposterioropacitiesinthelens.Directsequencingofthecandidategenesshowedaheterozygousc.2668C>TvariationinEPHA2gene,whichresultedinthereplacementofargininebycysteineatcodon890(p.R890C).Thismutationwasfoundintwoaffectedindividuals,butwasnotobservedin200normalcontrols.·CONCLUSION:Wereportanovelmutation(p.R890C)intheEPHA2receptortyrosinekinasegene.ThefindingexpandsthemutationspectrumofEPHA2inassociationwithposteriorcataract.
简介:AIM:Toevaluatetheefficacyandsafetyofcornealcollagencrosslinking(CXL)topreventtheprogressionofpost-laserinsitukeratomileusis(LASIK)cornealectasia.·METHODS:Inaprospective,nonrandomized,single-centrestudy,CXLwasperformedin20eyesof11patientswhohadLASIKformyopicastigmatismandsubsequentlydevelopedkeratectasia.Theprocedureincludedinstillationof0.1%riboflavin-20%dextranesolution30minutesbeforeUVAirradiationandevery5minutesforanadditional30minutesduringirradiation.Theeyeswereevaluatedpreoperativelyandat1-,3-,6-,and12-monthintervals.Thecompleteophthalmologicexaminationcompriseduncorrectedvisualacuity,bestspectacle-correctedvisualacuity,endothelialcellcount,ultrasoundpachymetry,cornealtopography,andinvivoconfocalmicroscopy.·RESULTS:CXLappearedtostabiliseorpartiallyreversetheprogressionofpost-LASIKcornealectasiawithoutapparentcomplicationinourcohort.UCVAandBCVAimprovementswerestatisticallysignificant(P<0.05)beyond12monthsaftersurgery(improvementof0.07and0.13logMARat1year,respectively).Meanbaselineflattestmeridiankeratometryandmeansteepestmeridiankeratometryreduction(improvementof2.00and1.50diopters(D),respectively)werestatisticallysignificant(P<0.05)at12monthspostoperatively.At1yearafterCXL,meanendothelialcellcountdidnotdeteriorate.Meanthinnestcorneapachymetryincreasedsignificantly.·CONCLUSION:Theresultsofthestudyshowedalong-termstabilityofpost-LASIKcornealectasiaaftercrosslinkingwithoutrelevantsideeffects.Itseemstobeasafeandpromisingproceduretostoptheprogressionofpost-LASIKkeratectasia,therebyavoidingordelayingkeratoplasty.
简介:AIM:Toexaminetheexpressionofsurvivinandvascularendothelialgrowthfactor(VEGF)duringthedevelopmentofretinalneovascularization(NV)inamousemodel.·METHODS:Awell-characterizedmurinemodelofretinalNVwasusedtostudytheexpressionofsurvivinandVEGF.NVoftheretinawasinducedinmicebyexposureto75%O2frompostnataldayP7toP12,followedbyreturntoroomairfromP12toP17.ExpressionofsurvivinandVEGFproteinwasanalyzedbyImmunohistochemistry.Inaddition,mousemodelofproliferativeretinopathywasanalyzedbyretinalfluoresceinangiographyandquantificationanalysis.·RESULTS:Thenormalmicehadbothsuperfiekalanddeepvascularlayersthatextendedfromtheopticnervetotheperiphery.Inintraocularpressure(IOP)micewerecharacterizedbyrepresentatypicalpatternofpathologicalretinalNV.Therearelessorlittlenucleiofnewvesselsvascularendothelialcellbreakingthroughtheinnerretinalthaninretinopathyofprematurity(ROP)mice,largeclustersofbloodvesselswereadherenttotheinternallimitingmembrane(ILM)(0.27±0.20vs23.38±1.027,t=9.454,P<0.001).DuringtheangiogenicperiodfromP13toP17,survivinandVEGFproteinexpressionincreasedinexperimentalretinascomparedwithcontrolsamples(2.56±0.46vs3.34±0.40,t=17.43,P<0.01:2.18±0.75vs4.34±0.25,t=19.61,P<0.01).ProteinlevelsofVEGFandsurvivnhassignificantlypositivecorrelation(P<0.05,r=0.411).·CONCLUSION:CorrelationwasmadeattheproteinlevelsofsurvivinexpressioncomparedwiththatofVEGFinamurinemodelofretinalNV,whichsuggestsatemporalroleforsurvivinandVEGFinnewvesselformationinresponsetohypoxicstimulation.
简介:AIM:Todemonstratethemorphologyandstructureofinvitroreconstructedtissue-engineeredhumancornealepithelium(TE-HCEP)withseedercellsfromanuntransfectedHCEPcellline.·METHODS:TheTE-HCEPswerereconstructedinvitrowithseedercellsfromanuntransfectedHCEPcellline,andscaffoldcarriersofdenudedamnioticmembrane(dAM)inair-liquidinterfaceculturefor3,5,7and9days,respectively.Thespecimenswereexaminedwithhematoxylin-eosin(HE)stainingofparaffin-section,immunocytochemicalstaining,scanningandtransmissionelectronmicroscopy.·RESULTS:DuringinvitroreconstructionofTE-HCEP,HCEPcellsformeda3-4,6-7and8-10layersofanHCEP-likestructureondAMsinair-liquidinterfaceculturefor3,5and7days,respectively.Butthecellsdeceasedto5-6layersandthestructureofstraifiedepitheliumbecamelooseatday9.Andthecellsmaintainedpositiveexpressionofmarkerproteins(keratin3andkeratin12),cell-junctionproteins(zonulaoccludens-1,E-cadherin,connexin43andintegrinβ1)andmembranetransportproteinofNa+-K+ATPase.TheHCEPcellsinTE-HCEPwererichinmicrovillionapicalsurfaceandestablishednumerouscell-cellandcell-dAMjunctionsatday5.·CONCLUSION:ThemorphologyandstructureofthereconstructedTE-HCEPweresimilartothoseofHCEPinvivo.TheHCEPcellsinthereconstructedTE-HCEPmaintainedthepropertiesofHCEPcells,includingabilitiesofformingintercellularandcell-extracellularmatrixjunctionsandabilitiesofperformingmembranetransportation.TheuntransfectedHCEPcellsanddAMscouldpromisinglybeusedinreconstructionHCEPequivalentforclinicalcornealepitheliumtransplantation.
简介:<正>DearSir,IamDr.Sheng-LiMi,fromtheBiomanufacturingengineeringlaboratory,GraduateSchoolatShenzhen,TsinghuaUniversity,Shenzhen,China.Iwritetopresentacasereportofnocardiabrasiliensisinapatientwithdiabetes.Nocardiaispartofagroupofaerobicactinomycetes,widelydistributedinsoil.Nocardiaasteroidsandnocardiabrasiliensisarethemostcommonhumanpathogens.Humansinfectedbynocardiaasteroidsthroughtherespiratorytractmainlysufferfromprimarysuppurativepulmonaryconditions.Infectionofnocardiabrasiliensisoftenoccursintheadvancedstagesofaprogressivediseaseorimmunedisorder,especiallyCushingsyndrome,diabetes,orinpatientsusingcorticosteroids,immunosuppressiveagentsandbroad-spectrumantibioticsforlongtime[1].Toourknowledge,thereportsofnocardiakeratitiswasveryrare
简介:AIM:Toestablishanuntransfectedhumancornealstromal(HCS)celllineandcharacterizeitsbiocompatibilitytoacellularporcinecornealstroma(aPCS).·METHODS:PrimaryculturewasinitiatedwithapurepopulationofHCScellsinDMEM/F12media(pH7.2)containing20%fetalbovineserumandvariousnecessarygrowthfactors.Theestablishedcelllinewascharacterizedbygrowthproperty,chromosomeanalysis,tumorigenicityassay,expressionofmarkerproteinsandfunctionalproteins.Furthermore,thebiocompatibilityofHCScellswithaPCSwasexaminedthroughhistologicalandimmunocytochemistryanalysesandwithlight,electronmicroscopies.·RESULTS:HCScellsproliferatedtoconfluence2weekslaterinprimarycultureandhavebeensubculturedtopassage140sofar.AcontinuousuntransfectedHCScelllinewithapopulationdoublingtimeof41.44hoursatpassage80hasbeendetermined.Resultsofchromosomeanalysis,morphology,combinedwiththeresultsofexpressionofmarkerproteinandfunctionalproteinssuggestedthatthecellsretainedHCScellproperties.Furthermore,HCScellshavenotumorigenicity,andwithexcellentbiocompatibilitytoaPCS.·CONCLUSION:Anuntransfectedandnon-tumorigenicHCScelllinehasbeenestablished,andthecellsmaintainedpositiveexpressionofmarkerproteinsandfunctionalproteins.Thecellline,withexcellentbiocompatibilitytoaPCS,mightbeusedforinvitroreconstructionoftissue-engineeredHCS.
简介:AIM:Toinvestigatethespecialtyoftranscranialsurgerythroughpterionalapproachforremovalofcranio-orbitaltumors,introducetheophthalmologicalexperiencesofenteringtheorbittoreducetheincidencerateofassociatedcomplicationsofthisoperation.·METHODS:Weperformedaretrospectiveanalysisofaseriesof37casesinvolvingpatientswhounderwenttranscranialsurgerythroughpterionalapproachfortreatmentofcranio-orbitaltumorsinourdepartmentinthepast8years.Pterionapproachcraniotomywasperformedtoallpatients.Afterremovingtumorsintheskullbytheneurosurgeon,ophthalmologistremovedtumorsinorbit.Wetookmeasuresbelowtodecreasecomplications,includinggroundingopticcanalthroughanabrasivedrillingwhennecessary,hangingvariousextraocularmusclestobeexposedforprotection,refrigeratingbyrefrigerationheadstoremovetumors,atlastsewinguporbitseptumaftersurgery.·RESULTS:Tumorswereremovedcompletelyin32cases,andincompletein5casesduetoextensiveinvasionintothecavernoussinusorsphenoidsinus.Ofallthecases,benigntumorsweredemonstratedin28cases(75.6%,28/37)andmalignantin9(24.3%,9/37).Themostcommonlesiontypewasmeningiomain11cases(29.7%,11/37).Extraocularmuscles(EOM)impairment,occurringin21cases(56.7%,21/37),wasthemostfrequentpostoperativecomplication.Themostseriousconsequencewasvisionlossoccurredin4cases(10.8%,4/37).Othercomplications,suchas11casesoftransientblepharoptosis29.7%(11/37),5casesofmydriasisin13.5%(5/7);2casesofcerebrospinalrhinorrheain5.4%(2/37).·CONCLUSION:Cranio-orbitaltumorscanberemovedcompletelyusingtranscranialapproach,andthepterionalapproachoffersexcellentexposure.Cooperationofinterdisciplinaryteamofneurosurgeonsandophthalmologistsconducestofulluseofrespectiveprofessionaladvantages.Theexperienceofophthalmicoperationtechnologycandecreaseoccurrenceofocularcomplicationsaftersurger
简介:·AIM:Toexploretheeffectofimmunizationwithcopolymer-1(COP-1)andretinalstemcells(RSCs)transplantationoninterferon-gamma(IFN-γ)levelsinaratexperimentalglaucomamodel.·METHODS:Anexperimentalglaucomawasinducedbyargonlaserphotocoagulationoftheepiscleralveinsandlimbalplexusintherighteyeofrats.Immediatelyfollowingglaucomainduction,ratswereimmunizedwithCOP-1.RSCswereculturedandtransplantedintravitreallyintotheeyesofglaucomamodelanimals1weekpost-lasertreatment.Sixexperimentalgroupswereused:COP-1/RSC,PBS/RSC,COP-1/PBS,PBS/PBS,glaucomamodelgroup,andanormalcontrolgroup.TheconcentrationofIFN-γinaqueoushumor(AH)andserumwasmeasuredbyenzyme-linkedimmunosorbentassay(ELISA)ineachofthesixgroups.Retinalganglioncell(RGC)survivalwasassessedbyquantifyingapoptosisusingHoechststaining.·RESULTS:ConcentrationsofIFN-γinAHandserumofratsthathadundergoneglaucomainductionwerehigherthanthoseofnon-inducedcontrolrats.TheconcentrationsofIFN-γinAHandserumoftheCOP-1/RSCstreatedgroupweredeterminedtobe2371.9ng/Land710.9ng/L,respectively,whichweresignificantlylowerthanthoseintheothertreatedgroups(P<0.05).Infact,IFN-γlevelsinthedualtreatedgroupwerereducedtobackgroundlevels.TheCOP-1/RSCgrouphadlowernumberofapoptoticRGCsthantheotherthreeexperimentalgroups(P<0.05).·CONCLUSION:ThereducedlevelsofIFN-γinAHandserumoftheCOP-1/RSCgroupmayberelatedtosynergisticeffectsbetweenRSCstransplantationandCOP-1immunemodulation.ItislikelythatthelowerlevelsofIFN-γpreventedRGCsglaucomatousapoptosis.·
简介:目的探讨数字化多媒体系统矫治训练对大龄儿童弱视的治疗效果。方法选取2013年1月至2016年1月我院门诊收治的大龄弱视患儿86例(128眼),作为研究对象。根据患儿治疗方案的差异将其分为观察组与对照组,对照组45例患儿接受常规综合治疗措施,观察组41例患儿接受数字化多媒体系统治疗,比较两组患儿治疗后双眼视功能变化及疗效。结果观察组患儿治疗后总有效率明显高于对照组,并且观察组患者立体视改善率明显高于对照组,P〈0.05,差异具有统计学意义。结论对大龄弱视患儿采取数字化多媒体系统治疗可有效改善患儿弱视症状,提高患儿双眼视功能,缩短患儿视功能障碍治疗时间,具有临床应用及推广价值。
简介:AIM:Toinvestigatethetreatmentstatusandprognosisofspace-occupyinglacrimalglandlesionsatonetertiaryeyecenterinChina.·METHODS:Aretrospectiveclinicalstudywasperformedon95patientswithspace-occupyinglesionsofthelacrimalglandsurgicallytreatedattheEye&ENTHospitalofFudanUniversityfrom2003to2007.Thereviewedclinicaldataincludedage,gender,sideofthelesion,durationofsignsandsymptoms,histopathologicaldiagnosis,treatmentmodality,recurrence(local,regional,anddistantmetastasis)andsurvival.·RESULTS:Ofthe95cases(99eyes),pleomorphicadenomaswerethemostcommonlesions(43cases),followedbylymphoiddisorders(14),inflammatorypseudotumors(11),carcinomaex-pleomorphicadenomas(11),andadenoidcysticcarcinomas(ACC,6).Therewere8patientswithrelapsedpleomorphicadenomas.Fiveofthese8caseshadmalignantpathologicalchanges.AllpatientswithACChadmetastasisandthreeofthemdiedduringtheirfollow-up.·CONCLUSION:Ourstudyindicatedthatthemostcommonlacrimalglandlesionswerepleomorphicadenomas.Multiplerecurrenceandsurgicalproceduresmayincreasetheriskoftumorprogression.ACChadahighincidenceoftumormetastasisandapoorprognosis.