简介:摘要报道1例新生儿期起病的多发性线粒体功能障碍综合征1型,以反应弱、纳差、血乳酸增高为主要表现,头颅MRI提示脑白质病变,基因测序提示NFU1基因外显子c.167-1G>T纯合变异。总结患儿临床特点、诊断和治疗过程,以加强临床医生对本病的认识。
简介:摘要患儿 男,5岁,因“仅限少量称谓语表达”于2022年2月就诊于青岛市妇女儿童医院康复科。主要临床表现为重度智力障碍,语言发育迟缓,孤独症行为,脑电图异常放电,头围小,身材矮小和特殊面容。基因检测示CREBBP基因第30号外显子杂合错义变异:c.5120G>A(p.Cys1707Tyr),为新发致病性变异。诊断为Menke-Hennekam综合征1型。
简介:摘要ALK易位相关性肾细胞癌(ALK-RCC)是肾细胞癌(RCC)的一种罕见亚型。在2016版WHO泌尿与男性生殖系统肿瘤分类中被列为暂定亚型。本文回顾性分析1例ALK-HOOK1易位相关性肾细胞癌的临床资料、组织学特征、免疫表型、荧光原位杂交和二代基因测序分析,并复习相关文献,以期进一步探究具有该类特征性改变的肿瘤临床病理特征。
简介:摘要目的调查社区甲型H1N1流感发病情况,并对居家隔离治疗进行观察分析。方法收集2009年10月—11月荣巷街道发现的甲型H1N1流感75例,其中男性39例,女性36例,年龄11个月—31周岁,平均年龄10.3岁,学生占94.67%,伴有支气管哮喘1例,系统性红斑狼疮1例,5岁以下儿童15例(<2岁1例)。75例患者均经无锡市疾病控制中心行甲型H1N1流感病毒核酸检测为阳性,并由市属医院专家组分诊后予以居家隔离治疗,社区卫生服务中心管理随访。结果75例甲型H1N1流感,体温在1天内恢复正常14例,2—3天恢复正常55例,第4天恢复正常4例,同时其他流感样症状也消失,咽拭子甲型H1N1流感病毒核酸检测阴性,1周后解除隔离。未发现合并肺炎、ARDS及呼吸衰竭。结论居家隔离治疗,社区责任医生严密观察、指导和随访,是防控甲型H1N1流感的有效措施。
简介:ObjectivesToexploretheprotectiveeffectofirbesartan(Irb)undertheinterferencewithangiotensinⅡ(AngⅡ)onABCA1.MethodsElectronmicroscopywasusedtodetectthemorphousoffoamcells.TheexpressionofABCA1mRNAanditsproteinweredeterminedbyRT-PCRandWesternblotting,respectively.Thevarianceofcellularcholesterolcontentwasmeasuredbyzymochemistryvia-fluorospectrophotometer.ResultsApositivefacilitativeeffectofAngⅡontheformationoffoamcellswasobserved.TotalcholesterolwasincreasedsignificantlybyAngⅡ,theexpressionofABCA1wasdown-regulatedobviouslybyAngⅡ;IrbcouldprotectABCA1againstthelesionofAngⅡ;TotalcellularcholesterolcontentwasreducedsignificantlyinIrb+AngⅡgroup;However,considerablealterationaboutthecholesterolcontentandtheexpressionofABCA1werenotobservedinIrbgroupwithoutincubationwithAngⅡ.ConclusionsIrbcouldprotectABCA1againstthelesionofAngⅡ,whichmaycontributetoitsanti-atheroscleroticproperties.
简介:摘要目的研究医院对甲型H1N1流感患者在医院时的感染控制策略,从而防范流感的医源性传播。方法回顾性分析了某医院所收治的86例甲型H1N1流感确诊及疑似患者,并在诊断过程中采取有效的消毒、隔离以及防护措施。结果该医院所收治的86例确诊和疑似甲型H1N1流感患者未发生院内感染,医务人员及其家属也无感染病例产生。结论加强对患者的消毒和隔离、及时制定出应急预案的方案、监督并落实医院感染的控制力度,使得甲型H1N1流感患者能够得到成功治疗以及院感控制的强有力保证。
简介:AIM:TocomprehensivelyevaluatethepotentialassociationofCOL1A1polymorphismswithhighmyopiabyasystematicreviewandMeta-analysis.METHODS:AllassociationstudiesonCOL1A1andhighmyopiareporteduptoJune10,2014inPubMed,Embase,WebofScience,andtheChineseBiomedicalDatabasewereretrieved.Oddsratios(ORs)and95%confidenceintervals(95%CIs)wereanalyzedforsinglenucleotidepolymorphisms(SNPs)usingfixed-andrandom-effectsmodelsaccordingtobetween-studyheterogeneity.PublicationbiasanalyseswereconductedbyEgger’stest.RESULTS:Atotaloffourstudiesfromreportedpaperswereincludedinthisanalysis.TheMeta-analysesforCOL1A1rs2075555,composedof2304highmyopiapatientsand2272controls,failedtodetectanysignificantassociationwithhighmyopia.Atotalof971casesand649controlsweretestedforCOL1A1rs2269336.TheassociationofCOL1A1rs2269336withhighmyopiawasobservedinrecessivemodel(CCvsCG+GG,P=0.03)andinheterozygousmodel(CGvsGG,P=0.04),butnotinothermodels.CONCLUSION:ThisMeta-analysisshowsthatCOL1A1rs2269336(CCvsCG+GG)affectsindividualsusceptibilitytohighmyopia,whereasthereisnoassociationdetectedbetweenSNPsrs2075555andhighmyopia.Giventhelimitedsamplesize,furtherinvestigationsincludingmoreethnicgroupsarerequiredtovalidatetheassociation.