简介：Leber'scongenitalamaurosis(LCA)andrecentgenetherapyadvancementfortreatinginheritedretinopathieswereextensiveliteraturereviewedusingMEDLINE,PubMedandEMBASE.Adeno-associatedviralvectorswerethemostutilisedvectorsforoculargenetherapy.Conephotoreceptorcellsmightuseanalternatepathwaywhichwasnotreliantoftheretinalpigmentepithelium(RPE)derivedretinoidisomerohydrolase(RPE65)toaccessthe11-cisretinaldehydechromophore.Researcheffortsdedicatedontheprogressionofagene-basedtherapyforthetreatmentofLCA2.Suchgenetherapyapproacheswereextremelysuccessfulincanine,porcineandrodentLCA2models.TherecombinantAAV2.hRPE65v2adenoassociatedvectorcontainedtheRPE65cDNAandwasreplicationdeficient.ItsinvitroinjectionintargetcellsinducedRPE65proteinproduction.Thegenetherapytrialsthatweresofarconductedforinheritedretinopathieshavegeneratedpromisingresults.PhaseIclinicaltrialstocureLCAandchoroideremiademonstratedthatadeno-associatedviralvectorscontainingRPEgenesandphotoreceptorsrespectively,couldbesuccessfullyadministeredtoinheritedretinopathypatients.AphaseIIItrialispresentlyongoingandifsuccessful,itwillleadthewaytoadditionalgenetherapyattemptstocuremonogenic,inheritedretinopathies.

简介：Background:Thehospitalizationburdenofcongenitalheartdisease(CHD)atthenationalorregionallevelinChinaremainsunknown.WeaimedtoevaluatetherecentpatientcharacteristicsandtemporaltrendsofhospitalizationsforCHDinBeijing.Methods:PatientshospitalizedforCHDinBeijingfrom2007to2011wereidentifiedfromtheHospitalDischargeInformationSystem.Patientcharacteristicswererecorded,andtrendsinhospitalizationrateswereanalyzedbyPoissonregressionafteradjustmentforageandsex.Results:Atotalof53,064patientswereadmittedforCHDinBeijingduringthestudyperiod,amongwhom50.5%werechildrenyoungerthan5years,30.0%wereadults,18.5%hadsevereCHD,86.9%werenonpermanentBeijingresidents,and81.3%wereadmittedtocardiac-specifictertiaryhospitals.Thehospitalizationrateincreasedfrom10.2per100,000populationin2007to12.4per100,000populationin2011,representingasignificantincreaseafteradjustmentforageandsex(P=0.009).However,thetrendsvariedindifferentgroups.Therateshalvedin2011forbothnonsevereCHDandsevereCHDcomparedwiththeratesin2010,whereasincreasingtrendswerenoticedinchildrenaged1–4yearsandadultsfornonsevereCHDacrossthestudyperiod.Conclusions:TheoverallrateofCHDhospitalizationhasbeenincreasinginBeijing,whereasnotallpatientgroupshavethesametrend.Thehospitalizationratedecreasedamonginfants,whiletheratefornonsevereCHDincreasedsignificantlyamongadults.Thesefindingswillbeofimportanceforfutureallocationofhealthresources.

简介：AIMTo鉴别在透明婴儿透镜和先天的cataract.METHODSLens相关的miRNAs的中央上皮的透镜相关的microRNAs(miRNAs)的表示从PubMed被检索数据库。在透明婴儿透镜和先天的奔流的这些miRNAs的表示层次被茎环颠倒抄写聚合酶链反应(RT-PCR)决定。人权保护的算法被用来预言这些差别的目标基因表示了miRNAs。目标mRNA是validated.RESULTSSix透镜相关的miRNAs从屏蔽PubMed被检索数据库。在透明婴儿透镜的最丰富的miRNA根据茎环RT-PCR是miR-184。miR-182在先天的奔流是起来调整的。相反地，miR-204和miR-124是下面调整的。miR-204比miR-124在表示展出了更重要的减少。另外，Meis2被预言是用人权保护的算法的miR-204的目标。miR-204mimic/antagomirtransfection实验建议了在miR-204的表示之间的否定关联，建议他们在先天的奔流的致病的参与并且miR-182，miR-204和miR-124的Meis2.CONCLUSIONThe表示层次在透明婴儿透镜和先天的奔流的中央上皮之间不同。miR-204可以经由silencingMeis2行动调整透镜开发和先天的奔流形成。

简介：AIMTo用角膜的地形学和共焦的系统决定先天的aniridickeratopathy(CAK)的典型角膜的变化，并且那可能在早diagnosis.METHODSPatients帮助识别特征CAK，健康控制题目包括轴的长度经历了详细眼的考试，角膜的厚度，眼泪电影状况，角膜的地形学，并且在vivo扫描激光共焦的显微镜学(IVCM).RESULTSIn早阶段aniridickeratopathy，我测试的Schirmer(坐)，分散tim另外，显著地，更多的眼睛与控制组相比展出了扁平的角膜。煽动性的树枝状的房间在aniridic上皮是在场的，与相对控制的显著地增加的密度(P<0.05)。栅如脊的特征和反常房间形态学从十六个CAK盒子在六被观察。在中央角膜区域，aniridic角膜有神经density.CONCLUSIONThese处于边线状况在角膜的形态学改变的增加的subbasal能有用证实CAK的诊断。