学科分类
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6 个结果
  • 简介:Seventy-eightcasesofretinoblastoma(Rb)diagnosedattheEyeENTHospital,ShanghaiMedicalUniversityfrom1953to1985werestudied.Theresultsofmultiplelogisticregressionanalysisandconditionalprobabilitymodelshowedthathighfetalorderhadamoderaterisk(OR=1.28,P<0.05)ofdevelopingunilateralRb.Bothunilateralandbilateralcaseswereindependentofparentalages,andnointeractioncouldbefoundbetweenfetalorderandpaternalofmaternalage;also,theeffectoffetalorderwasnotconfoundedbyparentalages.

  • 标签: bilateral RETINOBLASTOMA FETAL UNILATERAL PARENTAL MATERNAL
  • 简介:Cancergenomicsisarapidlygrowingdisciplineinwhichthegeneticmolecularbasisofmalignancyisstudiedatthescaleofwholegenomes.Whilethedisciplinehasbeensuccessfulwithrespecttoidentifyingspecificoncogenesandtumorsuppressorsinvolvedinoncogenesis,itisalsochallengingourapproachtomanagingpatientssufferingfromthisdeadlydisease.Specificallycancergenomicsisdrivingclinicaloncologytotakeamoremolecularapproachtodiagnosis,prognostication,andtreatmentselection.Wereviewhererecentworkundertakenincancergenomicswithanemphasisontranslationofgenomicfindings.Finally,wediscussscientificchallengesandresearchopportunitiesemergingfromfindingsderivedthroughanalysisoftumorswithhigh-depthsequencing.

  • 标签: 基因组学 恶性肿瘤 癌症 配置文件 翻译 个性化
  • 简介:Three-dimensional(3D)printing(3DP)isarapidprototypingtechnologythathasgainedincreasingrecognitioninmanydifferentfields.Inherentaccuracyandlow-costpropertyenableapplicabilityof3DPinmanyareas,suchasmanufacturing,aerospace,medical,andindustrialdesign.Recently,3DPhasgainedconsiderableattentioninthemedicalfield.Theimagedatacanbequicklyturnedintophysicalobjectsbyusing3DPtechnology.Theseobjectsarebeingusedacrossavarietyofsurgicalspecialties.Theshortageofcadaverspecimensisamajorprobleminmedicaleducation.However,thisconcernhasbeensolvedwiththeemergenceof3DPmodel.Custom-madeitemscanbeproducedbyusing3DPtechnology.Thisinnovationallows3DPuseinpreoperativeplanningandsurgicaltraining.Learningisdifficultamongmedicalstudentsbecauseofthecomplexanatomicalstructuresoftheliver.Thus,3Dvisualizationisausefultoolinanatomyteachingandhepaticsurgicaltraining.However,conventionalmodelsdonotcapturehapticqualities.3DPcanproducehighlyaccurateandcomplexphysicalmodels.Manytypesofhumanoranimaldifferentiatedcellscanbeprintedsuccessfullywiththedevelopmentof3Dbio-printingtechnology.Thisprogressrepresentsavaluablebreakthroughthatexhibitsmanypotentialuses,suchasresearchondrugmetabolismorliverdiseasemechanism.Thistechnologycanalsobeusedtosolveshortageoforgansfortransplantinthefuture.

  • 标签: 肝脏疾病 三维印刷 医学领域 外科 快速成型技术 应用
  • 简介:Precisionmedicineaimstoidentifytherightdrug,fortherightpatient,attherightdose,attherighttime,whichisparticularlyimportantincancertherapy.Problemssuchasthevariabilityoftreatmentresponseandresistancetomedicationhavebeenlongstandingchallengesinoncology,especiallyfordevelopmentofnewmedications.Solidtumors,unlikehematologicmalignanciesorbraintumors,areremarkablydiverseintheircellularoriginsanddevelopmentaltiming.Theabilityofnext-generationsequencing(NGS)toanalyzethecomprehensivelandscapeofgeneticalterationsbringspromisestodiseasesthathaveahighlycomplexandheterogeneousgeneticcompositionsuchascancer.HereweprovideanoverviewofhowNGSisabletofacilitateprecisionmedicineandchangetheparadigmofcancertherapy,especiallyforsolidtumors,throughtechnicaladvancements,moleculardiagnosis,responsemonitoringandclinicaltrials.

  • 标签: 癌症治疗 医学 测序 药物治疗 发育时间 脑肿瘤
  • 简介:Acutemyeloidleukemia(AML)isageneticallyheterogeneousmyeloidmalignancythatoccursmorecommonlyinadults,andhasanincreasingincidence,mostlikelyduetoincreasingage.PrecisediagnosticclassificationofAMLrequiresclinicalandpathologicinformation,thelatterincludingmorphologic,immunophenotypic,cytogeneticandmoleculargeneticanalysis.RiskstratificationinAMLrequirescytogeneticsevaluationasthemostimportantpredictor,withgeneticmutationsprovidingadditionalnecessaryinformation.AMLwithnormalcytogeneticscomprisesabout40%-50%ofallAML,andhasbeenintensivelyinvestigated.Thecurrentlyused2008WorldHealthOrganizationclassificationofhematopoieticneoplasmshasbeenproposedtobeupdatedin2016,alsotoincludeanupdateontheclassificationofAML,duetothecontinuouslyincreasingapplicationofgenomictechniquesthathaveledtomajoradvancesinourknowledgeofthepathogenesisofAML.ThepurposeofthisreviewistodescribesomeoftheserecentmajoradvancesinthediagnosticclassificationandriskstratificationofAML.

  • 标签: 诊断分类 白血病 危险 急性 髓细胞 高精度
  • 简介:Next-generationsequencing(NGS)technologyiscapableofsequencingmillionsorbillionsofDNAmoleculessimultaneously.Therefore,itrepresentsapromisingtoolfortheanalysisofmoleculartargetsfortheinitialdiagnosisofdisease,monitoringofdiseaseprogression,andidentifyingthemechanismofdrugresistance.OnbehalfoftheTumorBiomarkerCommitteeoftheChineseSocietyofClinicalOncology(CSCO)andtheChinaActionableGenomeConsortium(CAGC),thepresentexpertgroupherebyproposesadvisoryguidelinesonclinicalapplicationsofNGStechnologyfortheanalysisofcancerdrivergenesforprecisioncancertherapy.Thisgroupcomprisesanassemblyoflaboratorycancergeneticists,clinicaloncologists,bioinformaticians,pathologists,andotherprofessionals.Aftermultipleroundsofdiscussionsandrevisions,theexpertgrouphasreachedapreliminaryconsensusontheneedofNGSinclinicaldiagnosis,itsregulation,andcompliancestandardsinclinicalsamplecollection.Moreover,ithaspreparedNGScriteria,thesequencingstandardoperationprocedure(SOP),dataanalysis,report,andNGSplatformcertificationandvalidation.

  • 标签: Next-generation SEQUENCING TECHNOLOGY CANCER CONSENSUS