简介：目的:了解我国Leber遗传性视神经病变(Leber'shereditaryopticneuropathy,LHON)线粒体DNA(mtDNA)14484位点突变患者的发病率和临床特征.方法:对来自117个家系的119例临床确诊或疑诊LHON的患者进行mtDNA检测.对3例证实为14484位点突变的家系做深入调查并收集相关病史及临床资料,抽取15例家属的血样进行mtDNA检测.结果:存在线粒体DNA突变的62例(62/119,52.1%)中,14484位点突变仅3例(4.8%).该3例3个家系56例中,28例有眼部症状,外显率50%.发病经过和临床表现类似11778位点突变的LHON,但其中视力恢复者17例(60.7%).15例家属的血样检测再次证实为14484位点突变.结论:我国LHON患者中14484位点突变者少见,其临床表现与11778位点突变者相似,惟视力恢复率高.

简介：AIM:Toinvestigatethepossiblerelationshipbetweentheinfluencingfactorsoccurringbeforeandduringbirthinfull-terminfantsandtheoutcomeofretinopathy.·METHODS:Totally816full-terminfantsadmittedintheneonateintensiveunitofBoaiHospitalofZhongshanbetween1May,2008and30June,2011wereincludedinthestudy.Fundusexaminationwasperformedandevaluatedindividuallyonthemattheageof48hoursafterdelivery,2weeksand1month.Somepossibleriskfactorshappeningprenatallyorduringdeliverysuchaspregnantrelatedhypertension,placentaprevia,placentalabruptionetc,aswellassomeneonatalriskfactorssuchasneonatalasphyxia,hypoxic-ischemicencephalopathy(HIE),lowbirthweightetc,wererecordedandevacuated.Thentheeffectoftheriskfactorsoffull-terminfantsonretinopathywasstudied.·RESULTS:Theincidenceofretinalhemorrhageoffull-terminfantswithprenatalpregnantrelatedhypertension(PRH)ofthemother(43.6%)wassignificantlyhigherthanthatoffull-terminfantswithout(8.0%).(P<0.001).Theincidenceofretinalhemorrhageoffull-terminfantswithneonatalasphyxiaand/orhypoxic-ischemicencephalopathy(HIE)(29.3%)wassignificantlyhigherthanthatofthosewithout(15.7%),butcorrelationwasnotfoundbetweentheseverityofretinahemorrhageandthedegreeofhypoxicdisease.Apalecolorofopticdiscwasassociatedwithalowbirthweightoffull-terminfant.Full-terminfantswithbirthweighlessthan2500ghadasignificanthigherincidenceofretinopathythanthosewithbirthweightequalormorethan2500g(P<0.001).·CONCLUSION:Themaininfluencingfactorswhichleadtoretinopathyofhighriskfull-terminfantsareprenatalfactorssuchasPRH,andsomeneonatalriskfactorssuchasasphyxia,hypoxic-ischemicencephalopathy,andlowbirthweight.

简介：由中国科学评价中心,武汉大学图书馆及中国科教评价网联袂研发的《中国学术期刊评价研究报告》——RCCSE权威期刊,核心期刊排行榜与指南于2011年8月由科学出版社正式出版,这在国内外期刊评价史上具有新的里程碑意义。

简介：~~

简介：<正>1926年11月生。1954年毕业于中南同济医学院。毕业后留同济医科大学附属协和医院工作,长期从事耳鼻咽喉科的医疗、教学和科研工作,现为主任医师、教授。曾任同济医科大学附属协和医院院长,曾先后在苏联、法、

简介：AIM:ToevaluatethecornealendothelialcelldensityandmorphologyinChinesepatientswithpseudoexfoliationsyndrome(PEX).·METHODS:Medicalrecordsof16patients(20eyes)withPEXwhopresentedtoourinstitutionbetweenJuly2008andJune2010wereretrospectivelyreviewed.Thirteeneyeshadcombinedglaucoma.Theinformationoffiveapparentlynormalfelloweyesinthesepatientswasalsorecorded.Lefteyesof20patientswithbilateralsenilecataractsbutnoothereyediseasewereincludedascontrols.Specularmicroscopywasperformedinalleyestoanalyzeforcornealendothelialcelldensityandmorphology.Celldensity,coefficientofvariationincellsize,andpercentageofhexagonalcellsincornealendotheliumwereevaluated.·RESULTS:ThemeancornealendothelialcelldensityinthePEXeyeswas2298±239cells/mm2,significantlylowerthanthatinthecataracteyes(2652±18cells/mm2,P=0.026),buttherewerenosignificantdifferencesincoefficientofvariationofcellsizeandfrequencyofhexagonalitybetweenthesetwogroups.NosignificantdifferencesinthethreeparameterswerefoundbetweentheapparentlynormalfelloweyesandthePEXeyesorthecataracteyes,orbetweenthePEXeyeswithandwithoutglaucoma.·CONCLUSION:CornealendothelialcelldensitymaydecreaseinChinesepatientswithPEX.ThedevelopmentofglaucomainPEXeyesdoesnotseemtoberelatedwiththechangeincornealendothelialcelldensityormorphology.

简介：据中国科学技术期刊编辑学会和中国高校科技期刊研究会国际检索系统资讯部报道，数据来源——http：//www．ncbi．nlm．nih．gov／pubmed／citmatch。

简介：AIM:Tocharacterizetheclinicalfeatures,diagnosis,treatmentandprognosisofuveitisassociatedwithankylosingspondylitis(AS)inChinesepatients.·METHODS:TwohundredandthreepatientswithuveitisassociatedwithASfollowed-upintheThirdMilitaryMedicalUniversityDapingHospitalbetween2005and2010wereretrospectivelyevaluatedinthisstudy.Completeophthalmologicalexaminationswereevaluatedatbaselineandduringthefollow-upperiod.Thegender,age,follow-uptime,meanfrequencyofuveitisonset,andaccompanyingeyeexaminationfindings,history,demographicalparameterswerereviewed.Allthepatientspresentedcompleteclinicalandradiologic(sacroiliac,lumbar,dorsalandcervicalspine,knee,ankle,shoulder,hip,elbow)evaluation.HLA-B27typingwasalsosearched.·RESULTS:Therewere203patientsdiagnosedwithASassociateduveitis.AllshowedsacroiliacX-raychangesindicativeofAS.Therewere184maleand19femalepatients.Theaverageageofpatientswas35±12(range18-50).Meanfollow-upperiodwas2.4years(1-5years).Acuteanterioruveitiswasthemostcommontypeofuveitisinbothgenders.121eyespresentedunilateralinvolvement(55.2%),and92eyespresentedbilateralinvolvement(45.3%)withonsetalternately.22eyesoccurredhypopyon,16eyeswerefoundanteriorvitreouscells,7eyeswerenotedreactivemacularedemaorexudation,29eyespresentedposteriorsynechiaeofiris,and14eyespresentedcataract,9eyespresentedsecondaryglaucoma,2eyespresentedbendcornealdegenerationand1eyespresentedatrophyofeyeball.Atthefinalvisit,uveitiswaswellcontrolledinmostpatients.·CONCLUSION:ASassociatedwithuveitisinChinesepatientsmainlymanifestsasacuteanterioruveitis.AcombinationofcorticosteroidswithothermydriasisagentsiseffectiveformostASassociatedwithuveitispatients.Ingeneral,theprognosisisgoodinthesecases.

简介：

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.

简介：

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.