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.

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简介：AbstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.

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简介：BackgroundCongenitaltrachealstenosis(CTS)isachallengingairwayproblem.CTSininfantsandchildrencanbelife-threatening.Duringlastthirtyyears,alargenumberofstudiescoveringthediagnosis,clinicalpresentation,managements,especiallysurgicaltreatmentsofCTShavebeenreported.ThisreviewaimedtoconcluderecognizedknowledgeofCTSandprovidecluesformanaginginfantsandchildrenwithCTS.

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简介：ObjectivesToevalu-atetheoutcomeofdiagnosisandsurgicaltreatmentforcortriatrium(CTA)in6patientsseenbetween1994and2002.Methods6patientsranginginagefrom5monthsto25yearswereobserved.Allofthemhadothercardiovasculardefects,andpresentedwithdyspnea,palpitations(andlowweightgrowingonlyintheinfants).Preopreativetwodimensionalechocardiogra-phyhaddemonstratedanabnormalseptumintheleftatriumandothercoexistentanomalies.In3ofthemthemembranewasobstructedbetweentheleftatrialaccessorychamberandtheleftatrium.Thecommunicationwereatrialseptaldefect(ASD)indirectly;Theclinicalfindingswereduetothepulmonaryhypervas-cularity.Onlyonecasehadafenestrationintheseptumwithasmallpatentforamenovale(FO)directly,andtheclinicalfindingswereduetotheobstructiontoflowthroughthemembraneintheleftatrium,producingvenocapilarpulmonaryhypertension.TwoofthemhadASDandfenestrationontheseptum.Theot

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简介：AbstractIntroduction:Congenital analgesia is a rare autosomal recessive hereditary disease. The primary damage of congenital analgesia is central structure damage of comprehensive pain perception.Case presentation:A 1-year-old Han Chinese boy was admitted to hospital because of a tongue bite. He had no response to noxious stimulation of the body surface and was diagnosed with congenital analgesia. A small dose of remifentanil was intravenously injected during anesthetic induction to reduce the stress response caused by endotracheal intubation. A certain depth of anesthesia should be guaranteed during anesthetic induction and surgery to alleviate the stress response induced by endotracheal intubation and the operation.Conclusion:Opioid analgesics are not required for general anesthesia in patient with congenital insensitivity to pain. With a heat dissipation barrier in patients with congenital insensitivity to pain with anhidrosis, body temperature, end-tidal carbon dioxide and bispectral index should be monitored.

简介：Cardiovasculardiseaseistheleadingcauseofpregnancy-relateddeathsintheUnitedStates[1].Anestimated4%ofallpregnanciesintheUnitedStatesareaffectedbymaternalcardiovasculardisease,with80%ofthesecasesattributedtocongenitalheartdisease(CHD)[2–4].SecondarytoimproveddiagnosisandmanagementofCHD,morewomenwithCHDarereachingreproductiveage,andmanyofthesewomendesirepregnancy.WhilemanypregnantwomenwithCHDwillhaveanuncomplicatedpregnancyanddelivery,somewithmorecomplexcardiaclesionsorcomorbiditieswillhaveanincreasedriskofmaternalandneonatalmorbidityanddeath.Individualizedpreconception,antepartum,intrapartum.

简介：Congenitalcholesteatoma(CC)isararelyseenbenigntumorofthetemporalbone.Therearefivegeneralsitesofextraduraloccurrence:themiddleear,externalauditorymeatus,mastoid,squamousportionandthepetrousapexofthetemporalbone.CCgrowsslowlyandpresentsnosymptomsattheearlystage.Delayedandmis-diagnosisarecommonwiththiscondition~1.CasereportA10-year-oldboypresentedwitha3-monthhistoryofhearinglossonrightside.Therewasnohistoryofotorrhea,facialpalsy,previousotologicalproceduresortrauma.Otoscopyrevealedabulgingposterosuperiorquadrantintheotherwiseintactrighttympanicmembrane(Fig.1).Puretoneaudiometryshowedanaveragethresholdof51dBfor500,1000,2000and4000Hz,witha40dBair-bonegap,suggestingamoderateconductivehearingloss(Fig.4).CTscanofthetemporalboneshowedanisolatedsofttissuedensitylesioninthemiddleear(Fig.2).

简介：Dataontheprevalenceofdepressioninadultcongenitalheartdisease(ACHD)patientsdifferwidely.Weaimtosummarizethebestavailableinformationontheprevalenceofdepression,itsprognosticimpact,andpsychiatricinterventionsfordepressedACHDpatients.WereviewedreferencesinrelevantpublicationsuptoOctober17,2017.Forhomogeneityofdata,studiesinwhichdepressionwasindependentlyassessedinpatientsaged18yearsorolderorwithamean/medianageolderthan18yearswereincluded.Retrospectiveandpostoperativeevaluationstudieswereexcluded.Twentypublicationsmetthesecriteria.StudysamplesincludedACHDpatientsfollowedupatACHD-specializedhospitalsin13countries.Theprevalenceofdepressiondifferedwidely,rangingfrom6to69%.Depressionhasbeenshowntobeanindependentpredictorofadverseclinicaloutcomes.Itisalsofrequentlyassociatedwithotherprognosticvariables(i.e.,poorfunctionalclass,unfavorableperceivedhealthstatus,andlowqualityoflife).Currently,norandomizedclinicaltrialsonpsychiatricinterventionsinACHDareavailable.Insummary,depressionishighlyprevalentinACHDpatients,yetitisoftenunrecognizedanduntreated.Theadverseprognosticimpactofdepressioncallsforspecializedpsychiatricinterventions,forwhichmoreresearchisneededintheACHDpatientpopulation.

简介：ObjectivesTostudyclinical,imagingfeaturesandtreatmentoutcomesofcongenitalcholesteatomaofmiddleear(CCME).MethodsThisisaretrospectivereviewof10CCMEcasesselectedfrom952cholesteatomacasestreatedbetweenJanuary1995andDecember2005attheDepartmentofOtolaryngology-HeadandNeckSurgery,ChinesePLAGeneralHospital.Themainoutcomemeasureswerethesiteoforigin,clinicalfeatures,surgicalfindings,imagingcharacteristicsandhearingresults.ResultsThemeanageofthe10patientswas16years(rangedfrom10to24years),with6beingolderthan18years.Therewere7malesand3females.Theaveragedelaytodiagnosiswaslongerthan2years.ThemeanpreoperativePTAwas55dBHL,withameanABGof45dB.Typicalcholesteatomaswereseenbehindthetympanicmembraneinthesuperoposteriorquadrantonotoscopyonlyin2patients.HighresolutionCTwascompletedinallpatients.Mostofthepatients(8/10)werediagnosedwithotosclerosisorossicularabnormalitybeforeoperation.Allpatientsunderwentaone-stagetympanoplastyfollowingtransmeatalexplorativetympanotomyandcompletecholesteatomaremoval,exceptone,whounderwentaCWUmastoidectomyduetoextensivecholesteatomainvolvement.Thecholeasteatomalesionwasconfinedtothesuperoposteriormesotympanuminallpatients.ThemeanpostoperativePTAwas20dBHL.Allpatientswerefollowed-upforatleast1.5yearspostoperatively.Revisionprocedureswereperformedin2patientsforhearingdeterioration.Noresidualorrecurrenceofcholesteatomawasfound.ConclusionCCMEisararediseasethatoftengetsdelayeddiagnosis.Residuallesionsandtheprognosismainlydependontheextentofthelesion.

简介：BackgroundPulseoximetryscreening(POS)hasbeenproposedasaneffective,noninvasive,inexpensivetoolallowingearlierdiagnosisofcriticalcongenitalheartdisease(CCHD).However,mostneonatesaredischargedfromthehospitalwithoutthisevaluationinChina.ThisstudyaimedatassessingthefeasibilityofPOSfornewbornsindetectingCCHDinthedepartmentofobstetricsandneonatalintensivecareunit(NICU).MethodsPOSwasperformedin355neonatesborninthedepartmentofobstetricsoradmittedtotheNICUbetweenJanuary2015andJune2015.Theseneonatesweredividedintonormalgroup,mildcongenitalheartdiseasegroup(MCHD)andCCHDgroup,accordingtotheresultofechocardiographyorcomputerizedtomography(CT).Thegestationalage,birthweightandarterialoxygensaturation(SpO_2)werecomparedamongthethreegroups.TheSpO_2valueanddiagnosistimeoftheCCHDcaseswereclassifiedandanalyzed.ResultsTheprematurebirthandlowbirthweightwerethehighriskfactorsofmildcongenitalheartdisease.Therewasnodifference(P>0.05)inSpO_2betweentheMCHDgroupandthenormalgroup.SignificantdifferenceintheSpO_2appearedbetweentheCCHDgroupandthenormalgroup(P<0.05).CombinationofPOSandclinicalexaminationcanreducethemissingdiagnosisrateinscreeningforCCHD.ConclusionsPOSincursverylowcostandriskofharmandisnotrequiredforspecialtraining,therefore,aneffectivewaytoidentifyCCHDinneonates.

简介：AIM:Tocomparethecornealparametersofchildrenwithcongenitalisolatedgrowthhormonedeficiencyandhealthysubjects.METHODS:Inthiscross-sectional,prospectivestudy,50caseswithgrowthhormone(GH)deficiencytreatedwithrecombinantGHand71healthychildrenunderwentacompleteophthalmicexamination.Thecornealhysteresis(CH),cornealresistancefactor(CRF),Goldmann-correlatedintraocularpressure(IOPg)andcorneal-compensatedintraocularpressure(IOPcc)weremeasuredwiththeOcularResponseAnalyzer(ORA).Centralcornealthickness(CCT)wasmeasuredbyaultrasonicpachymeter.RESULTS:Themeanagewas13.0±3.0yearsintheGHdeficiencygroupconsistingof21femalesand29malesand13.4±2.4yearsinthehealthychildrengroupconsistingof41femalesand30males.Therewasnostatisticallysignificantdifferencebetweenthegroupsforgenderorage(Chi-squaretest,P=0.09;independentttest,P=0.28,respectively).ThemeandurationofrecombinantGHtherapywas3.8±2.4yinthestudygroup.ThemeanCH,CRF,IOPgandIOPccvalueswere11.0±2.0,10.9±1.9,15.1±3.3,and15.1±3.2mmHgrespectivelyinthestudygroup.Thesamevalueswere10.7±1.7,10.5±1.7,15.2±3.3,and15.3±3.4mmHgrespectivelyinthecontrolgroup.ThemeanCCTvalueswere555.7±40.6,545.1±32.5μminthestudyandcontrolgroupsrespectively.TherewasnostatisticallysignificantdifferencebetweenthetwogroupsforCH,CRF,IOPg,IOPccmeasurementsorCCTvalues(independentt-test,P=0.315,0.286,0.145,0.747,0.13respectively).CONCLUSION:OurstudysuggeststhatGHdeficiencydoesnothaveaneffectonthecornealparametersandCCTvalues.ThisobservationcouldbebecauseofthedurationbetweenthebeginningofdiseaseandthediagnosisandbeginningofGHtherapy.

简介：ObjectiveToreportuseoftheVibrantSoundbridge(VSB)inpatientswithcongenitaldeformationofthemiddleandouterearsandinvestigateitsutilityinthispatientpopulation.MethodFourpatientswithcongenitaldeformationofmiddleandouterearsunderwentVSBimplantation.Allweremale(aged3-18years,average13.5years)andoperatedontheleftside.Malformationwasbilateralin3patientsandunilateralin1patient.Surgicaltechniquesweremodifiedtoaccommodateeachpatient’suniqueconditionsandneeds.Theimplantsitewasapproachedviathefacialrecessin3patientsandthrougharetro-facialnerveroutein1patient.TheVSBimplantwasconnectedtoeitherthestapes(2cases)ortheroundwindow(2cases).PuretoneandspeechaudiometryresultsanddailycommunicationcapabilitiesbeforeandafterVSBactivationwerecompared.ResultsTheoperationsweresuccessfulinallpatients,withnocomplications.ThepatientcommunicationlevelimprovedsignificantlyafterVSBactivation.Averageairconductionpuretonethresholdorconditionedreflexaudiometrythresholdimprovedby35dBinthe0.25-4kHzrange,from69dBHLbeforeVSBactivationto34dBHLafter.Thesentencerecognitionrateinquietat65dBSPLwentupto86%from0%withoutVSBforpatientswithbilateraldeformationandremainedat100%forthepatientwithunilateraldeformity.However,forthelatterpatient,therateimprovedto20%from0%withoutVSBinnoise(-8dBSNR).ConclusionVSBisanexcellentsolutionforimprovinghearinginpatientswithcongenitaldeformationofmiddleandouterears.Operationcanbecompletedandgoodresultscanbeachievedeveninpatientswithuniqueconditionsandneeds.

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：Withimprovementsintheirsurgicalandmedicalmanagement,thenumberofpatientswithcongenitalheartdisease(CHD)reachingadulthoodhasincreasedoverthelastdecade.AsthepopulationofadultCHDpatientscontinuestorise,anincreasingnumberofthesepatientswillrequireevaluationforhearttransplantation.ItisimportanttorecognizeadvancedheartfailureandotherassociatedcomplicationsearlyinthiscohortofcomplexpatientsforearlyreferraltoanadultCHDspecialist.Asthesepatientspresentwithuniquechallengesbecauseoftheirmultiplecomorbiditiesandcomplexanatomy,thereneedstobeacarefulselectionprocessfortransplantationtooptimizetheutilizationofdonororgans.

简介：OrganizedbyChinaAssociationforPreservationandDevelopmentofTibetanCulture,BeijingRedCrossFoundationandBuchangPharmaGroup,theOneHeartFoundationProjectfundedthethirdgroupof12TibetanchildrenwithcongenitalheartdiseasetoarriveatBeijingonMarch16,2012forfreetreatmentinBeijingTongrenHospitalandBeijingHuaxinHospital.Sita,ViceMinisteroftheUnitedFrontWork