简介：

简介：摘要患儿女，5月龄，因"10 d内抽搐5次"住院。特殊面容，浓眉、弓形眉、连心眉，睫毛长且弯曲，小下颌，肌张力略增高，大运动和精神发育落后。头颅磁共振成像示胼胝体变薄；视频脑电图示双侧前头部异常放电；家系全外显子组检测提示患儿存在SMC1A基因NM_006306:exon4:c.607A>G（p.K203E）杂合变异所致Cornelia de Lange综合征Ⅱ型。患儿SMC1A基因检测到的杂合变异c.607A>G是新发变异，在国内未见报道，扩大了SMC1A基因变异谱。

简介：摘要目的对3例Cornelia de Lange综合征(CdLS)患儿的临床表型及基因检测结果进行分析，明确其致病原因。方法选取2020年3月12日、8月14日、12月5日于甘肃省妇幼保健院医学遗传中心就诊的3例CdLS患儿为研究对象。收集患儿及其父母的临床资料，采集外周血样进行家系高通量测序分析。结果3例患儿的主要临床表现包括发育迟缓、智力低下、特殊面容和其他伴随症状。根据国际诊断共识标准，3例患儿被拟诊为CdLS。通过家系全外显子组测序及生物信息学分析，确诊CdLS。患儿1携带NIPBL基因c.5567_5569delGAAinsTAT错义变异，患儿2携带SMC1A基因c.607A>G错义变异，患儿3携带HDAC8基因c.628+1G>A剪接变异。3例患儿均为新发变异。结论3例患儿均确诊CdLS，并发现了致病基因变异位点，其中NIPBL基因c.5567_5569delGAAinsTAT及HDAC8基因c.628+1G>A变异位点既往未见报道，丰富了CdLS的变异谱。

简介：2013年上海网球大师赛德约科维奇成功卫冕,可见他之前迎战格拉诺勒斯时的意外扭伤丝毫没有影响其战斗力。然而并不是每一位球员都有小德这样的好运,伯蒂奇和穆雷就因伤病而无缘赛事。虽说坊间流传中国是小德的福地,但《网球大师》觉得专业及时的治疗才是其扭转伤患劣势的关键。为此小编特别采访了北京弘道运动医学诊所运动医学专家EddieLange,球迷们关注精彩赛事的同时也不妨了解下一直在为运动员保驾护航的运动医疗及恢复性治疗行业。

简介：摘要目的分析1例重型Cornelia de Lange综合征(Cornelia de Lange syndrome，CdLS)患儿的NIPBL基因变异，明确其遗传学病因。方法提取患儿及其父母外周血中DNA物质，应用全外显子基因组测序法检测相关基因变异，应用Sanger测序法验证变异。对可疑变异进行生物信息学预测。结果经全外显子基因组测序分析并经Sanger测序验证，发现患儿NIPBL基因第9外显子存在c.1507A>G(p. Lys503Glu)杂合错义变异，该变异为新发变异，且为未报道过的新变异。经PolyPhen-2、Mutation Taster、SIFT预测软件预测c.1507A>G(p. Lys503Glu)变异为可能有害变异，并经HomoloGene系统分析NIPBL蛋白第503位Lys在各种属间均高度保守，该位点氨基酸改变可导致编码的NIPBL原有蛋白功能发生障碍。而经过PubMed BLAST系统进一步分析发现该位点氨基酸的改变可通过影响Neuromodulin_N superfamily结构域的形成来导致NIPBL蛋白功能发生障碍的。结论NIPBL基因c.1507A>G(p. Lys503Glu)错义变异可能为该患儿罹患重型CdLS的致病原因，基因变异检测结果可以为家系的遗传咨询和产前诊断提供依据。

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简介：摘要分析2019年3月遵义医科大学附属医院收治的Cornelia de Lange综合征(CdLs)患儿2例的临床资料及基因变异结果。2例均在婴儿期起病，表现为难治性癫痫，均伴发育落后及特殊外貌，基因检测显示X染色体上SMC1A基因突变，例1为c.2561dupA(p.K854fs)移码突变；例2为c.3441+1G>A(exon24)剪接突变，均为新生杂合突变，位点未见文献报道。2例患儿为SMC1A基因突变所致CdLs，进一步扩大了CdLs的基因型。提示对于早期癫痫起病伴特殊外貌及发育落后的患儿需考虑CdLs的可能，必要时需行基因检测。

简介：Thereisageneralconsensusthatmostophiolitesformedabovesubductionzones(Pearce,2003),particularlyduringforearcextensionatsubductioninitiation(Shervais,2001;Stern,2004;WhattamandStern,2011).'Supra-Subductionzone'(SSZ)ophiolitessuchasthewell-studiedTethyanophiolites,generallydisplayacharacteristicsequentialevolutionfrommid-oceanicridgebasalts(MORBs)toislandarctholeiities(IATs)orbonites(BONs)(Pearce,2003;DilekandFurnes,2009,2011),whichweregeneratedinsequencefromthedecompressionmeltingofasthenosphericmantleandpartialmeltingofsubduction-metasomatizeddepletedmantle(SternandBloomer,1992;DilekandFurnes,2009;WhattamandStern,2011).However,ophioliteswithMORBand/oroceanic-islandbasalt(OIB)affinitiesarerare,andtheiroriginandtectonicnaturearepoorlyunderstood(Boedoetal.,2013;Saccanietal.,2013).ItisinterestingthatthecompositionoftheseophiolitesfromthecentralTibetanPlateau(CTP)isdominatedbyMORBsandminorOIBsandadistinctlackofIATsandBONs,whichisinconsistentwithmostophiolitesworldwide(RobinsonandZhou,2008;Zhangetal.,2008).Butthegenerationandtectonicnatureoftheseophiolitesarestillcontroversial.*Inthisstudy,wepresentnewgeochronological,mineralogicalandSr-NdisotopicdatafortheChayongandXiewumaficcomplexesinthewesternGarzê-Litangsuturezone(GLS),atypicalPaleo-TethyansuturecrossingtheCTP(Fig.1).TheTriassicophioliteinthewesternGLShasbeendescribedbyLietal.(2009),whofoundthatitmainlyconsistsofgabbros,diabases,pillowbasaltsandafewmetamorphicperidotites.TheophiolitehasbeentectonicallydismemberedandcropsoutinTriassicclasticrocksandlimestonesastectonicblocks.TheChayongandXiewumaficcomplexesaregenerallyregardedasimportantfragmentsoftheTriassicophiolites(e.g.,Jin,2006;Lietal.,2009).ZirconLA-ICP-MSU-Pbagesof234±3Maand236±2MacanbeinterpretedasformationtimesoftheChayongandXiewumaficcomplexes,respectively.Thebasalts

简介：TheHuashixiaareaintheMadoiCounty,QinghaiProvince,westernChinaisoneofthemostimportantareasforthestudiesoftheformationandevolutionoftheA’nyemaqenmélangezoneduetothewellexposed,relativelycompletetectonostratigraphicsuccessions.However,thetimingandevolutionaryprocessoftheA’nyemaqenpaleo-oceanhaslongbeenpoorlyunderstood.Recently,weobtainedabundantradiolariansfromthesiliceousrocksoftheMaerzhengFormationofthismélangezoneinHuashixia.Total19speciesin10radiolariangenerahavebeenidentified.TheybelongmainlytotheAlbaillellaria,Spumellaria,Entactinaria,andLatentifistularia.Fourradiolarianassemblagezonesareestablished,including:thePseudoalbaillellarhombothoracata,Pseudoalbaillellascalprata,Ruzhencevispongusuralicus,andFollicucullusbipartitus-Follicucullussp.cf.F.ventricosuszones.RadiolarianfaunalcorrelationssuggestalateArtinskian–earlyKungurianageandlateCapitanian–earlyWuchiapingianageforthefirsttwozonesfromthelowerpartandthelasttwozonesfromtheupperpartsoftheMaerzhengFormation,respectively.AllradiolariansaretypicalofdeepwaterelementslivingindeepoceansinlowlatitudesduringthePermian.Previously,theradiolariansofEarlyCarboniferoustoEarlyPermianageandfusulinidsofEarly–MiddlePermianagehavealsobeenreportedfromtheA’nyemaqenmélangesuccessions.ThecombinationofthenewlyfoundradiolarianswiththepreviouslyreportedfaunalandmicrofloralassemblagesaswellasradiometricagesobtainedfromthesamestratigraphicunitsindicatesthattheA’nyemaqenpaleo-oceanmayhaveopenedinitiallyduringtheEarlyCarboniferous,expandedfromtheEarly–MiddlePermian,reacheditsacmeintheearlyLatePermian,shrunkduringthelatestPermiantoEarlyTriassic,andeventuallywasclosedintheMiddleTriassic.

简介：摘要目的对1例疑诊为Cornelia de Lange综合征的引产儿及其亲代进行基因检测，为遗传咨询和产前诊断提供依据。方法详细询问妊娠史及家族史，结合孕期影像学检查及引产儿表型做出临床诊断。收集引产儿组织及其亲代的静脉血样，提取基因组DNA，进行全外显子组测序分析，筛查与表型相关的变异位点，并通过Sanger测序进行验证。结果孕期超声提示胎儿前臂及手形态异常、小脑蚓部发育不良、下颌偏小、双肾实质回声增强，引产后可见上肢及面部畸形。全外显子组测序提示胎儿携带NIPBL基因c.2118delG(p.Lys706fs)杂合移码变异，其父母未检出相同变异。结论NIPBL基因c.2118delG杂合移码变异可能是胎儿的致病原因。上述结果可为家系遗传咨询及指导再生育提供依据。

简介：摘要目的探讨儿童Jervell-Lange-Nielsen综合征(JLNS)的临床表现、诊断、治疗及预后，提高临床上对此罕见遗传性心律失常的认识。方法报道1例4岁JLNS患儿的临床资料及利用利多卡因试验预测用药的经验。结果4岁男孩，术前心电图检查发现QT间期明显延长。生后即反复抽搐，曾按"癫痫"给予治疗；既往因耳聋植入人工耳蜗。患儿父母、祖母和外祖母心电图QT间期轻度延长。患儿心电监护发现尖端扭转性室性心动过速发作。利多卡因试验显示利多卡因可显著缩短QT间期，终止尖端扭转性室性心动过速发作。基因检测提示KCNQ1基因复合杂合突变，确诊JLNS，给予口服美西律、普萘洛尔治疗。随访8个月，QT间期维持于460～500 ms，未再抽搐。结论JLNS是长QT综合征的罕见、危重类型之一，利多卡因试验可有效用于长QT综合征患儿的早期鉴别诊断及指导药物的选择。

简介：Résumé：Commesontitre1＇indique,Quatre-vingt-treizeest1＇épopéedelaRévolutionfrancaise,raeontéedtraverstroispersonnagessymboliques：unvieilaristocrate,lemarquisdeLantenac,sonpetit-neveu,Gauvain,unno-blerattaehéauxhumbles,etunhommedupeuple,Cimourdain,pèreadoptifdeCauvain.C＇estdonelesliensfamili-auxquiunissentsespersonnagesavantdelesvoirplongerdanslatourmentedesévénements,etlutterlesunseontrelesautres.Soitparconvictionsderangetdeelasse,soitparraison,soitencorepourunidéal.Enunmot,entreeux,ilexisteunviolenteolfflitentre《1＇humanité》et《larévolution》

简介：InordertoinvestigatetheevolutionofShiquanhe-Yongzhu-Jialiophioliticmélangebelt,thegabbrosfromnewdiscoveredZhongcangophioliticmélangearestudiedthroughpetrology,whole-rockgeochemistry,zirconU-PbdatingandLu-Hfisotope.Thegabbrosinvestigatedinthispapercontaincumulategabbroandgabbrodike,andtheyhaveundergonegreenschist-amphibolitefaciesmetamorphism.Thechondritenormalizedrareearthelement(REE)patternsofmostoftheserocksshowflattypeswithslightlylightREE(LREE)depletionandtheN-MORBnormalizedincompatibleelementsdiagramsindicatedepletioninhighfieldstrengthelements(HFSE)(Nb,Ta)andenrichmentinlargeionlithophileelements(LILE).Thesegabbroshaveislandarcandmid-oceanridgebasaltaffinities,suggestingthattheywereoriginatedinanoceanicbackarcbasin.WholerockgeochemistryandhighpositiveεNd(t)valuesshowthatthesegabbroswerederivedfrom~30%partialmeltingofaspinellherzolitemantle,whichwasenrichedbyinteractionwithslab-derivedfluidsandmeltsfromsediment.U-Pbanalysesofzirconsfromcumulategabbroyieldaweightedmeanageof114.3±1.4Ma.Basedonourdataandpreviousstudies,weproposethatanintra-oceanicsubductionsystemandbackarcbasinoperatedintheNeo-TethyOceanofcentralTibetduringMiddleJurassicandEarlyCretaceous,resemblingmodernactiveintra-oceanicsubductionsystemsinthewesternPacific.