简介：患者,女,40岁,农民。以＂间断双下肢浮肿3年余,乏力、纳差6天＂于2016年3月28日入院。现病史：患者3年前出现双下肢浮肿,无胸闷、气憋,无咳嗽、咳痰,无乏力、纳差,遂至红十字医院以＂慢性肾炎＂收入院,具体诊治不详。患者6天前出现乏力、纳差,余无特殊不适。我院门诊化验生化：尿蛋白＋,潜血＋;尿素21.70mmol/L,肌酐358.00μmol/L,钾5.5mmol/L,尿酸577μmol/L,

简介：Inclinicalpractice,avarietyofsyndromesareassociatedwithcardiovasculardiseaseandhavecharacteristicfindings.Mostofthemareanautosomaldominantgeneticdisorderandhavedifferenttypesofcardiovascularabnormalities,includingelectrocardiographicconductiondefects,arrhythmias,cardiomyopathy,vascularandvalvulardiseases,cardiacseptaldefects,andpulmonaryproblems.Thereisagrowingneedforphysicianstopaymoreattentiontothesesyndromes.

简介：摘要目的分析有ANCA相关性血管炎肺部表现临床特征，总结诊治经验。方法2013年2月-2015年12月，医院收治ANCA相关性血管炎患者42例，患者均进行详细的抗体检测、实验室检查、肺影像学检查，所有患者都采用激素为主的治疗，联合血透24例。结果可伴发热、乏力、体重下降，除肺间质损害外，还可见肺部感染、肾、关节、胃肠道、神经、皮肤、心脏损害，实验室检查发生率50%以上包括血红蛋白降低、血清白蛋白下降、血沉加快、血肌酐与血尿素氮水平上升、尿红细胞计数阳性、尿蛋白阳；肺部影像学占1/2以上表现条索斑片影；单纯肺损伤不伴肾损害血红蛋白、红细胞计数、白细胞计数、血小板计数高于伴肾损害者，差异有统计学意义（P＜0.05）；绝大多数患者治疗后，肺部病变吸收。结论ANCA相关性血管炎肺部表现呈多样化，其中条索斑片影作为常见，常合并肾损害，对于伴肾损伤的患者，病情更重，常合并贫血等表现。

简介：Aminoglycosides(AmAn)arewidelyusedfortheirgreatefficiencyagainstgram-negativebacterialinfections.However,theycanalsoinduceototoxichearingloss,whichhasaffectedmillionsofpeoplearoundtheworld.Aspreviouslyreported,individualsbearingmitochondrialDNAmutationsinthe12SrRNAgene,suchasm.1555A>Gandm.1494C>T,aremorepronetoAmAn-inducedototoxicity.Thesemutationscausehumanmitochondrialribosomestomorecloselyresemblebacterialribosomesandenableastrongeraminoglycosideinteraction.Consequently,exposuretoAmAncaninduceorworsenhearinglossintheseindividuals.Furthermore,awiderangeofseverityandpenetranceofhearinglosswasobservedamongfamiliescarryingthesemutations.StudieshaverevealedthatthesemitochondriamutationsaretheprimarymolecularmechanismofgeneticsusceptibilitytoAmAnototoxicity,thoughnuclearmodifiergenesandmitochondrialhaplotypesareknowntomodulatethephenotypicmanifestation.

简介：Masterdevelopmentalpathways,suchasNotch,Wnt,andHedgehog,aresignalingsystemsthatcontrolproliferation,celldeath,motility,migration,andstemness.Thesesystemsarenotonlycommonlyactivatedinmanysolidtumors,wheretheydriveorcontributetocancerinitiation,butalsoinprimaryandmetastatictumordevelopment.Thereactivationofdevelopmentalpathwaysincancerstromafavorsthedevelopmentofcancerstemcellsandallowstheirmaintenance,indicatingthesesignalingpathwaysasparticularlyattractivetargetsforefficientanticancertherapies,especiallyinadvancedprimarytumorsandmetastaticcancers.Metastasisistheworstfeatureofcancerdevelopment.Thisfeatureresultsfromacascadeofeventsemergingfromthehijackingofepithelial-mesenchymaltransition,angiogenesis,migration,andinvasionbytransformingcellsandisassociatedwithpoorsurvival,drugresistance,andtumorrelapse.Inthepresentreview,wesummarizeanddiscussexperimentaldatasuggestingpivotalrolesfordevelopmentalpathwaysincancerdevelopmentandmetastasis,consideringthetherapeuticpotential.EmergingtargetedantimetastatictherapiesbasedonNotch,Wnt,andHedgehogpathwaysarealsodiscussed.

简介：DearEditor,IamDr.SorayaMediero,fromDepartmentofOphthalmologyofLaPazUniversityHospital,Madrid,Spain.IwritetopresentacasereportofkeratoconusassociatedwithWilliams-Beurensyndrome(WBS).Toourknowledge,thisisthefourthreportofkeratoconusassociatedwithWBSandthe

简介：摘要病历患者，女性，66岁，2009年7月28日入院，入院后于2009年7月31日经治疗无效死亡。病历号374089，CT号183312；病理号A1644.

简介：Objective:Gastriccancer(GC)isoneoftheleadingcausesofdeathinChinaandotherAsiancountries.Recently,gastricendoscopyhasbecomethemainapproachforGCscreening,buttheidentificationofhigh-riskindividualsremainsachallengeinGCscreeningprograms.Methods:Therewere7,302patientswithchronicgastritisinvolvedinthisstudy.Endoscopicexaminationswereperformed,andtheirdemographiccharacteristicsandlifestyledatawerecollected.EachpossibleassociatedfactorofGC/premalignantandprecursorlesionswasevaluatedbyunivariateandmultivariatelogisticregressions.Nomogramswereusedforvisualizationofthosemodels,andreceiveroperatingcharacteristic(ROC)curveanalysiswasusedtopresentthepredictiveaccuracy.Results:Wedetected8(0.11%)gastricadenocarcinomas,17(0.23%)dysplasiacases,14(0.19%)hyperplasiacases,52(0.71%)intestinalmetaplasiacases,217(2.97%)inflammatorylesions,141(1.93%)gastriculcers,10(0.14%)atrophicgastritiscases,1,365(18.69%)erosivegastritiscases,and5,957(81.58%)superficialgastritiscasesin7,302patients.Theage(P<0.001),gender(P=0.086),laborintensity(P=0.018)andleekfoodintake(P=0.143)wereidentifiedasindependentpredictivefactorsofGC/premalignantlesionspossibility.Thecorrespondingnomogramexhibitedanareaunderthecurve(AUC)[95%confidenceinterval(95%CI)]of0.82(0.74–0.89)forthemodelinggroupand0.80(0.75–0.85)forthevalidationgroup.Theage(P=0.002),gender(P=0.024),smoking(P=0.002)andleekfoodintake(P=0.039)wereindependentpredictivefactorsofprecursorlesionspossibility.ThecorrespondingnomogramexhibitedanAUC(95%CI)of0.62(0.60–0.65)forthemodelinggroupand0.61(0.59–0.63)forthevalidationgroup.Conclusions:WeidentifiedseveralpotentialassociatedfactorsandprovidedapreclinicalnomogramwiththepotentialtopredictthepossibilityofGC/premalignantandprecursorlesions.

简介：Objective:Oralsquamous-cellcarcinoma(OSCC)accountsfor>90%oforalcancersaffectingadultsmostlybetweenthefourthtoseventhdecadesoflife.ThemostcommonOSCCtreatmentisconcomitantchemoradiotherapy(CCRT)havingbothlocoregionalanddistantcontrol,butCCRThasacuteandchronictoxiceffectsonadjacentnormaltissue.ThisstudyaimedtodeterminethesideeffectsofCCRTontheoralmucosaandtocharacterizetheclinicopathologyoforallesionsinpatientswithOSCC.Methods:Thisdescriptive,cross-sectionalstudywascertifiedbytheEthicalReviewCommittee(UHS/Education/126-12/2728)oftheUniversityofHealthSciences,Lahore,Pakistan.OSSCpatients(n=81)withvarioushistologicalsubtypes,grades,andstageswererecruited,andfindingsontheiroralexaminationwererecorded.Thesepatientsreceived70,90,and119Gyofradiotherapydosagesincombinationwiththechemotherapydrugscisplatinand5-fluorouracil.DatawereanalyzedusingSPSS20.0.Results:ThemostcommonpresentationofOSCCwasanonhealingulcer(63%)involvingtongue(55.6%).Clinicalfindingsincludedmucositis(92.6%)andxerostomiaofmild,moderate,andseveredegreesin11.1%,46.9%,and35.8%cases,respectively.Ulcers(87.7%),palpablelymphnodes(64.2%),limitedmouthopening(64.2%)andfistula(40.7%)werealsoobserved.Infemales,theassociationofradiotherapydosagewithlimitedmouthopening,xerostomia,andhistologicalgradingwasstatisticallysignificant(P<0.05).Theassociationofchemotherapydrugswithxerostomia(P=0.003)wasalsostatisticallysignificant.Conclusions:CCRTinducedmucositis,xerostomia,andtrismusinpatientswithOSCC.

简介：摘要目的比较激素免疫抑制剂及其联合血浆置换治疗抗中性粒细胞胞质抗体（ANCA）相关性血管炎（AAV）的疗效。方法选取AAV患者30例，其中15例患者单采用激素免疫抑制剂进行治疗归为对照组，另15例患者给予激素免疫抑制剂联合血浆置换治疗归为观察组，比较两组的疗效。结果两组患者治疗后ANCA、Scr水平及BVAS评分较治疗前显著降低，且治疗后观察组患者的ANCA、Scr水平及BVAS评分明显低于对照组，P<0.05，差异具有统计学意义。两组患者治疗前后BUN水平均无明显差异，不良反应发生率也无明显差异，P>0.05，差异无统计学意义。治疗3个月后，观察组中仍需长期血液透析治疗的患者所占比率明显低于对照组，P<0.05，差异具有统计学意义。结论激素免疫抑制剂联合血浆置换治疗AAV的疗效优于单使用激素免疫抑制剂，可有效改善患者肾功能，值得推广应用。

简介：AIMTo报告角膜的营养障碍(液晶显示器)与二个变化，R124C和A546D联系了的格子的一个phenotypic变体家谱，在导致贝它的基因(TGFBI).METHODSA详细说明了的转变生长因素，眼睛的检查为一个液晶显示器家庭的所有参加者被参加。从每个参加者的外部血白血球被提取获得DNA。TGFBI基因的所有十七exons的聚合酶链反应(PCR)被执行。产品被定序并且分析。在从proband.RESULTSGenetic分析的右眼睛的渗透的keratoplasty证明proband和所有6个影响个人两个都在codon怀有异质接合的CGC到TGC变化以后，组织学的检查被执行124并且异质接合的GCC到在codon的GAC变化546TGFBI。任何一个100个控制题目和未受影响的家庭成员都不为这二个变化是积极的。眼睛的检查显示了多重refractile在在外部角膜的中央角膜和小小粒的存款的前面的基质的像格子的暗。存款与红显示是的刚果断然被染色在自然淀粉、位于主要观察的前面、中间的stroma.CONCLUSIONWe在TGFBI基因带了二个病原的变化(R124C和A546D)的一个新奇液晶显示器家庭。phenotypic特征与与相应单个变化联系的那些显然不同。结果表明尽管明确的变化是疾病的最重要的基因原因，一些不同修饰词等位基因可以影响显型。

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简介：AIMTo调查锰superoxidedismutase(MnSOD)的协会有糖尿病的retinopathy(医生)的Val16Ala多型性.METHODSPubMed，Embase，中国知识基础结构，和Wanfang数据库被寻找。分享的机会比率(ORs)和95%信心间隔(CI)被计算评估协会的力量。亚群，敏感，和累积分析被执行。出版偏爱也是analyzed.RESULTSEight研究在分享的分析被包括。MnSODVal16Ala多型性在主导的模型下面与医生的风险被联系(OR=0.66，95%CI=0.48-0.91，P<0.0001)，这结果被表明在累积分析相对稳定。没有重要出版偏爱被发现。这多型性也在主导的模型下面在白种人与医生的风险被联系(OR=0.64，95%CI=0.42-0.97，P=0.04，)并且在在后退的模型下面的亚洲人(OR=0.31，95%CI=0.11-0.88，P=0.03).CONCLUSIONThese调查结果建议MnSODVal16Ala多型性是为医生的一个风险因素，并且更多的注意竟然对这些危险性基因的搬运人被给予。

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