简介:AIM:Toevaluatetheefficacyofintralesionalradiofrequencyablationinthetreatmentofperiorbitalsyringomas.·METHODS:Wetriedtheintralesionalradiofrequencyablationfor64patientswithperiorbitalsyringomasfrom2007to2011.Theoperationwasperformedunder2.5loupemagnifications.Thehandpiecewasassembledwithaneedleelectrodeandconnectedtotheradiofrequencyablationapparatus.Theelectrodewastheninsertedintothetargetlesionsindermisanddeliveringinjurytothebaseofthesetumors.Resultswereassessedclinicallybycomparingpre-andpost-treatmentphotographsandpatientsatisfactionrates.·RESULTS:Clinicalimprovementincreasedwitheachsubsequenttreatmentsession.Thepercentofpatientswhoseclinicimprovementgradewere≥3aftereachsessionwasrespectively71.9%(Session1),83.3%(Session2),and100%(Session3).Thestatisticalresultsindicatedtheconcordanceoftheclinicalassessmentandthesatisfactionlevelofpatients(kappa=0.78ofthesession1;kappa=0.82ofthesession2).Themajorityofpatientshadgoodorexcellentcosmeticresults.Postoperatively,therewerenopermanentsideeffectsorrecurrences.·CONCLUSION:Asanewtechniqueofminimallyinvasion,theintralesionalradiofrequencyablationwasfoundtobeaneffective,inexpensive,highlypreciseandsafewayoftreatingperiorbitalsyringomas.
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:Toestimatetheprevalenceandriskfactorsforvitreousfloatersinthegeneralpopulation.·METHODS:Anelectronicsurveywasadministeredthroughasmartphoneappaskingvariousdemographicandhealthquestions,includingwhetherusersexperiencefloatersintheirfieldofvision.Multivariatelogisticregressionanalysiswasusedtodetermineriskfactors.·RESULTS:Atotalof603individualscompletedthesurvey,with76%reportingthattheyseefloaters,and33%reportingthatfloaterscausednoticeableimpairmentinvision.Myopeswere3.5timesmorelikely(P=0.0004),andhyperopes4.4timesmorelikely(P=0.0069)toreportmoderatetoseverefloaterscomparedtothosewithnormalvision.Floaterprevalencewasnotsignificantlyaffectedbyrespondentage,race,gender,andeyecolor.·CONCLUSION:Vitreousfloaterswerefoundtobeaverycommonphenomenoninthisnon-clinicalgeneralpopulationsample,andmorelikelytobeimpairinginmyopesandhyperopes.
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:·Thisisacasepresentationofaverybizarreopenglobetraumawithanteriorsegmentforeignbody-fishinghookstuckinthecorneaandiris.Complicationsduetothiskindofeyetraumamightbeveryhazardousandwithseriousimpactonvisualfunction.Wearerepresentingourapproachandexperienceofthreestepmanagementofthiskindofeyeinjury:first-extracttheforeignbody,closeandreconstructtheeyeball,second-fightinflammation,andthird-restorethevisualfunctionbycataractsurgery.·
简介:AIM:Todefinetheultrasonographicstructureofnormallowereyelidanatomiccompartmentsandtheirspacialrelationshipindynamicmotion.METHODS:Highresolutionultrasound(15MHz)wasperformedonthelowereyelidsof7normalsubjects.Movementsofthelowereyelidanditscompartmentswerevisualizedwithultrasound.Inaddition,themaximalexcursionareaofthelowereyelidfatcompartmentsandretractormotionswasmeasuredbeforeandaftermotion.RESULTS:Theorbicularismusclecouldbeseenasanecholucentstructurebetweenthedermisandtheechodencefatpads.Lowereyelidfatpadseemstobedividedinto2compartmentsasrangeofmotionanddirectionofmovementofeachofthemvaries.Itseemsthatthesecompartmentshavealsodifferentbehavior.Themeasuredprofileareaofthevisiblenormallowereyelidfatpadsduringmovementofglobefromup-gazetodown-gazedecreasedby50%.Orderofmovementoflowereyelidstructuresseemstobeasfollows:afterglobemovementfistweseeretractormovement,anteriororbitalfatpad,thenskinandseptum,andfinallymovementofinferiorfatpad.CONCLUSION:Ultrasoundrepresentsanoninvasivetoolforthevisualizationoflowereyelidmorphology.Expandingitsapplicationcouldhelpusunderstandthecompartmentalchangesinphysiologicaleyelidmovement,inaginganddiseasedstudypopulations,aswellasassessoperativeoutcomes.