简介：Microphthalmia-associatedtranscriptionfactor(MITF)controlsmelanocytesurvivalanddifferentiationthroughdirectlyregulatingtheexpressionofthetyrosinase(TYR)andtyrosinase-relatedproteins1and2(TYRP1andTYRP2)genes.MITFmutationshavebeenreportedtoresultinanabnormalmelanocytedevel-opmentandleadtoWaardenburgsyndrometype2(WS2),characterizedbyvariabledegreesofsensorineu-ralhearinglossandpatchyregionaldistributionofhypopigmentation.Recently,MITFwasalsoindicatedasacausativegeneforamoreseveresyndrome,theTietzSyndrome(TS),characterizedbygeneralizedhy-popigmentationandcompletehearingloss.However,fewfunctionalstudieshavebeenperformedtocom-parethediseases-causingmutations.Here,weanalyzedtheinvitroactivityoftworecentidentifiedWS2-as-sociatedmutation(p.R217Iandp.T192fsX18)andoneTS-associatedmutationp.N210K.TheR217IMITFretainedpartialactivity,normalDNA-bindingabilityandnucleardistribution,whereastheT192fsX18MITFfailedtoactivateTYRpromoterduetolossofDNA-bindingactivity,andaberrantsubcellularlocalization.TheaberrantsubcellularlocalizationofT192fsX18MITFmaybecausedbydeletionofaputativenuclearlocalizationsignal(NLS)ataa213-218(ERRRRF).Indeed,MITFwithdeletionoftheNLSfragmentfailedtotranslocateintothenucleusandactivatedtheTYRpromoter.TaggingthisNLStoGFPpromotedthegreenfluorescenceprotein(GFP)translocatedintothenucleus.ThesurprisingfindingofourstudyisthataTS-as-sociatedMITFmutation,N210K,showedcomparableinvitroactivityasWT.Thus,thepossibleinvolve-mentofMITFinTSanditsunderlyingmechanismsstillneedfurtherinvestigation.

简介：<正>DearSir,IamDr.HandeTaylanSekeroglu,fromtheOphthalmologyDepartmentofCukurovaUniversityFacultyofMedicine.Iwanttopresentacaseofrecalcitrantocularcicatricialpemphigoid(OCP)whichwascoincidentlydiagnosedwithStevens

简介：Cowdensyndrome(CS),anautosomaldominantdisorder,isoneofaspectrumofclinicaldisordersthathavebeenlinkedtogermlinemutationsinthephosphataseandtensinhomolog(PTEN)gene.Although70-80%ofpatientswithCShaveanidentifiablegermlinePTENmutation,theclinicaldiagnosispresentsmanychallengesbecauseofthephenotypicandgenotypicvariations.Inthepresentstudy,wesequencedtheexonsandthepromoterofPTENgene,mutationsandvariationsinthepromoterandexonswereidentified,andaPTENproteinexpressionnegativeregionwasdeterminedbyimmunohistochemistry(IHC).Inconclusion,anovelpromotermutationwefoundinPTENgenemayturnoffPTENproteinexpressionoccasionally,leadingtothedisorderofPTENanduntypicalCSmanifestations.

简介：Children(5-12years)andadolescents(13-19years)withDownsyndrome(DS)possessasetofhealth,anatomical,physiological,cognitive,andpsycho-socialattributespredisposingthemtolimitationsontheirphysicalfitnessandphysicalactivity(PA)capacities.Thepaucityofstudiesandtheirconflictingfindingspreventaclearunderstandingand/orsubstantiationoftheselimitations.Thepurposeofthisarticlewastoreviewthemeasurement,determinantsandpromotionofphysicalfitnessandPAforyouth(i.e.,childrenandadolescents)withDS.TheexistingbodyofresearchindicatesthatyouthwithDS:1)havelowcardiovascularandmuscularfitness/exercisecapacity;2)demonstrateagreaterprevalenceofoverweightandobesity;3)alargeproportiondonotmeettherecommendedamountofdailyaerobicactivity;and4)theirPAlikelydeclinesthroughchildhoodandintoadolescence.Futureresearchshouldfocuson:1)strengthtestingandtrainingprotocols;2)methodologiestodeterminePAlevels;and3)practicalinterventionstoincreasePA.

简介：AIM:Todeterminetheclinicalfeatures,diagnosisandtreatmentoftheprimarySjogrensyndrome(SS)relatedopticneuritis.METHODS:Theclinicaldataof8patients(12eyes)withprimarySSrelatedopticneuritiswereanalyzedretrospectively.RESULTS:Eightof128consecutivepatientswithopticneuritisresultedfromvariedcausesfulfilledthediagnosticcriteriafortheprimarySS.Theypresentedinitiallywiththesignsandsymptomsofnon-specificopticneuritis,and5patientspresentingwithoutdrynessshowedachronicinflammationofsubmandibularglandorparotidgland,andlymphocyteinfiltrationwasdemonstratedbylabialglandbiopsyin2patients.Therewereserumpositivetitersforanti-SjogrensyndromeA(SSA)in7patientsandanti-SjogrensyndromeB(SSB)in8patients.Anti-aquaporin-4(AQP4)antibodywasnegativeinallthe8patients.Bothglucocorticoidsandimmunosuppressiveagentwereadministered,andvisualacuityelevatedin8eyes(66.7%),3patients(37.5%)recurredinthefollow-up.CONCLUSION:PrimarySSrelatedopticneuritisislesscommonandeasilymisdiagnosed.Theconventionaltherapiesforopticneuritiscouldnotcontroltherecurrence.

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简介：Theetiologyofvasoplegicsyndrome(VS)isnotcompletelyelucidatedandtheclinicalimportanceremainsspeculative.MethodsTwenty-fourpatientswhounderwentcoronaryarterybypassgraftinganddevelopedVSwerecomparedwith48controlpatientswithoutVSina2:1casecontrolstudy.Casesandcontrolswerematchedbygender,age(±5yearsold)andoperationdate(±1week).ResultsTheindependentpredictorsofVSwerelowerejectionfraction(OR10.75,95%CI2.93-39.44,whenLVEF<0.45)anddiureticuse(OR8.98,95%CI2.59-31.10)inlogisticregressionanalysis.Conclusionlowerejectionfraction(<0.45)anddiureticuseareindependentriskfactorsforVSoccurrence.

简介：Thedistributionofsensorysymptomsincarpaltunnelsyndromeisstronglydependentonthedegreeofelectrophysiologicaldysfunctionofthemediannerve.Theassociationbetweencarpaltunnelsyndromeandulnarnerveentrapmentisstillunclear.Inthisstudy,wemeasuredulnarnervefunctionin82patientswithcarpaltunnelsyndrome.ThepatientsweredividedintogroupIwithminimalcarpaltunnelsyndrome(n=35)andgroupIIwithmildtomoderatecarpaltunnelsyndrome(n=47)accordingtoelectrophysiologicaldata.Sixty-oneage-andsex-matchedsubjectswithoutcarpaltunnelsyndromewereusedasacontrolgroup.Therewerenosignificantdifferencesinulnarsensorynervepeaklatenciesorconductionvelocitiesfromthe4thand5thfingersbetweenpatientswithcarpaltunnelsyndromeandthecontrolgroup.Theulnarsensorynerveactionpotentialamplitudesfromthe4thand5thfingerswerelowerinpatientswithcarpaltunnelsyndromethaninthecontrolgroup.Theratiosoftheulnarsensorynerveactionpotentialamplitudesfromthe4thand5thfingerswerealmostthesameinpatientswithcarpaltunnelsyndromeasinthecontrolgroup.Thesefindingsindicatethatinpatientswithminimaltomoderatecarpaltunnelsyndrome,thereissomeelectrophysiologicalevidenceoftractionontheadjacentulnarnervefibers.Thefindingsdonotindicateaxonaldegenerationoftheulnarnerve.

简介：目的将为第三腰部的横向的过程症候群观察不同频率的electroacupuncture(EA)的临床的效果。有第三腰部的横向的过程症候群的80个盒子全部的方法A被使随机化进二个组，40在每个组。Ashi点在中等频率的electroacupuncture(EA)与K8832-T处理设备被连接组织，而Ashi点在传统的EA组与G6805-2电的激发器被连接。药品效果在10个处理会议以后被评估。结果在中等频率的EA组的治疗学的功效比传统的EA组的显著地好(P<0.05)。另外，在中等频率的EA组的管分数的改进比传统的EA组的更著名(P<0.05)。中等频率的EA是为第三腰部的横向的过程症候群并且因此值得推广有益于病人的容易、有效的治疗的结论。

简介：A60-year-oldwomanwithsquamouscellcarcinomaintherightlungwassuccessfullytreatedwithfourcyclesofcombinationchemotherapyaftersurgery,andcompleteremissionwasachieved.However,thepatientdevelopedmyelodysplasticsyndrome(MDS)RAEB-2withmyelofibrosisafterremission,possiblybecauseofchemotherapyorDNAmethylation.Thepatientrespondedwelltodacitabine(Dacogen),suggestingthatDNAhypomethylationagentscanbeapromisingtherapytoretardtheprogressionofasecondtumororcarcinoma.

简介：BackgroundSeveralstudieshavereportedanassociationofhyperglycemiawithincreasedmortalityandcomplicationsinhospitalpatientswithacutecoronarysyndrome(ACS).However,theinfluenceofstresshyperglycemia(SH)onthemedium-andlong-termprognosesinACSpatientshasnotyetbeendetermined.MethodsRandomvenousbloodglucoselevelsweredeterminedin433ACSpatientsandthepatientsweredividedintotwogroupsbasedonbloodglucoseresultsanddiseasehistories.The171patientsincludedintheexperimentalgrouphadnohistoryofdiabetes,hadnodiabetesand/orglucosemetabolismdisordersduringhospitalizationandfollow-upandhadfastingbloodglucoselevelsof≥7.0mmol/Landrandombloodglucoselevels≥11.1mmol/L.The262patientsincludedinthecontrolgrouphadnohistoryofdiabetes,hadnodiabetesand/orglucosemetabolismdisordersduringhospitalizationandfollow-up,andhadfastingbloodglucoselevels<6.1mmol/Landrandombloodglucoselevels<7.8mmol/L.Basicclinicalinformation,coronaryangiographiclesioncharacteristics,PCIsuccessrate,complicationrate,incidenceandmorbidityrateofcardiovasculareventsduringthehospitalizationperiodand6yearsoffollow-upwerecomparedbetweenthetwogroups.ResultsTherewasnosignificantdifferenceinage,genderordiseasehistorybetweenthetwogroups.Thetriglyceridelevelsandtheleftventricularejectionfractionsweresignificantlyhigher(P=0.00)andsignificantlylower(P=0.03)intheexperimentalgroupthaninthecontrolgroup,respectively.BothgroupsweresubjectedtocoronaryangiographyandPCI.ThePCIsuccessratesofthetwogroupsdidnotdiffersignificantly(P=0.63).TheexperimentalgrouphadmoretypeB2lesions,butfewertypeAlesionscomparedwiththecontrolgroup.Theexperimentalgrouphadsignificantlymorestentsimplantedcomparedwiththecontrolgroup(P<0.05).Thecardiovasculareventsweresignificantlyincreased(P=0.01)intheexperimentalgroupcomparedwiththecontrolgroup1yearafterdischarge.Thein

简介：Purpose:Arandomized,controlledtrialwasconductedtodeterminewhethera6-weeklowcaloriedietandaerobicexerciseinterventioncouldaltermetabolicsyndrome(MetS)riskfactorsinpre-pubescentobeseChinesechildren.Methods:Thesubjectswererandomizedintodietandexercise(DE)andcontrol(C)groups.TheDEgroupingested1600-2000kcal/dayadjustedtoeachparticipant’sbasalmetabolicrate,andengagedinhigh-volumeaerobicexercise(6days/week,twicedaily,for3hpersession)for6weeks.Atotalof215obesechildrenbetweentheagesof11and13yearswererecruitedintothestudy,with167subjects(DE,n=95;C,n=72)completingallphases.Pre-andpost-studymeasuresincludedbodyweight,bodymassindex,waistcircumference,bodyfatpercentage,bloodpressureandotherMetS-relatedmarkersfromfastingbloodsamples(serumcholesterol,triglycerides,insulin,andglucose).Results:Comparedtocontrols,theDEsubjectsexperiencedsignificantlyreducedlevelsforalloutcomemarkers(p<0.05),exceptforfastingbloodglucoseinboys(p=0.09).Conclusion:Anintensive,6-weekdietandexerciseinterventionhadfavorableeffectsinalteringMetSriskfactorsinobeseChinesechildrenaged11to13.