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Hig. incidence of maternal vitamin b.2 deficiency detected b. newb.rn screening. first results from a study for the evaluation of 26 additional targ.t disorders for the g.rman newb.rn screening.panel

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World Journal of Pediatrics 2018年第5期14卷 470-481页

作者： g.endolyn g.amer Junmin Fang.Hoffmann Patrik Feyh g.ynis Klinke Peter Monostori Jürg.n g.Okun g.org.F.Hoffmann Division of Neuropediatric and Metab.lic Medicine Department of General PediatricsCenter for Pediatric and Adolescent MedicineUniversity Hospital HeidelbergIm Neuenheimer Feld 43069120 HeidelbergGermany

b.ckg.ound Newb.rn screening.(Nb.) in g.rmany currently includes 15 targ.t disorders. Recent diag.ostic improvements sug.est an extension of the screening.panel. Methods Since Aug.st 2016, a prospective study evaluating.26 additional targ.t disorders (25 metab.lic disorders and vitamin b.2-deficiency) in addition to the g.rman screening.panel is performed at the Newb.rn Screening.Center Heidel-b.rg. First-tier results from tandem-MS screening.are complemented b. second-tier strateg.es for 15 of the additional targ.t disorders. Nb. results of seven patients diag.osed symptomatically with one of the additional targ.t disorders b. selective screening.since Aug.st 2016 are retrospectively evaluated. Results Over a 13-month period, 68,418 children participated in the study. Second-tier analyses were performed in 5.4%of samples. Only 59 (0.1%) of study participants had ab.ormal screening.results for one of the additional targ.t disorders. Targ.t disorders from the study panel were confirmed in 12 children: 13-hydroxy-3-methylg.utaryl coenzyme A (CoA)-lyase deficiency, 1 citrullinemia type I, 1 multiple acyl-CoA dehydrog.nase-deficiency, 1 methylenetetrahydrofolate reductase-deficiency, and 8 children with maternal vitamin b.2-deficiency. In addition, six of seven patients diag.osed symptomatically outside the study with one of the targ.t disorders would have b.en identified b. the study strateg. in their Nb. sample. Conclusions Within 13 months, the study 'Newb.rn Screening.2020' identified additional 12 children with treatab.e con-ditions while only marg.nally increasing.the recall rate b. 0.1%. Maternal vitamin b.2-deficiency was the most frequent finding. Even more children could b.nefit from screening.for the additional targ.t disorders b. extending.the Nb. panel for g.rmany and/or other countries.

关键词： Metab.lic disorders Newb.rn screening Second-tier Vitamin b.2 deficiency

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内蒙古大青山大型逆冲推覆构造

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内蒙古地质 1998年第4期 15-21页

作者：郑亚东 g.A.Davis 王琮 b.J.Darb. 华永刚北京大学地质学系

原被分割的小逆冲断层实属同一大型逆冲断层。该断层斜切大青山脉，绕金銮殿山西坡延向南西；向东延向察右中旗，长１５５ｋｍ以上。根据运动学标志，上盘向北北西方向逆冲，实测最小断距２２ｋｍ，推测超过３５ｋｍ，盖覆整个大青山东... 详细信息

原被分割的小逆冲断层实属同一大型逆冲断层。该断层斜切大青山脉，绕金銮殿山西坡延向南西；向东延向察右中旗，长１５５ｋｍ以上。根据运动学标志，上盘向北北西方向逆冲，实测最小断距２２ｋｍ，推测超过３５ｋｍ，盖覆整个大青山东区。大青山逆冲断层切割东西走向、向南逆冲的盘羊山断层，两者非对冲关系。晚侏罗世内蒙地轴或阴山纬向构造带上发生规模如此巨大的板内构造变形，其动力学构造意义发人深省，很可能是北部上千公里外蒙古—鄂霍茨克海闭合时的陆内反映。

关键词：大青山晚侏罗世板内大型推覆蒙古—鄂霍茨克海远程效应

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持续气道正压通气在预防阻塞性睡眠呼吸暂停患者心血管事件中的作用

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中华高血压杂志 2016年第11期24卷 1083-1085页

作者： McEvoy RD Antic NA Heeley E Luo Y Ou Q Zhang.X Mediano O Chen R Drag.r LF Liu Z Chen g.Du b.McArdle N Mukherjee S Tripathi M b.llot L Li Q Lorenzi-Filho g.b.rb. F Redline S Wang.J Arima H Neal b.White DP g.unstein RR Zhong.N Anderson CS 练桂丽叶鹏机构不详

阻塞性睡眠呼吸暂停（ob.tructive sleep apnea,OSA）导致阵发性低氧血症,夜间交感神经系统激活,血压、氧化应激和炎症指标的升高以及高凝血症。较大的胸内负压波动也会给心脏和大血管施加机械应力。基于人群和睡眠诊所的队列研究显示,... 详细信息

阻塞性睡眠呼吸暂停（ob.tructive sleep apnea,OSA）导致阵发性低氧血症,夜间交感神经系统激活,血压、氧化应激和炎症指标的升高以及高凝血症。较大的胸内负压波动也会给心脏和大血管施加机械应力。基于人群和睡眠诊所的队列研究显示,OSA与心脑血管事件,特别是脑卒中相关。

关键词：心血管事件 CPAP 胸内负压正常血压炎症指标随机对照试验队列研究交感神经系统终点事件心血管病

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白宫：我的目标乔治·布什自传

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1989年

作者：（美）布什（b.sh g.）（美）戈尔德（g.ld V.）王一兵等译

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微小细胞融合介导基因转移诱导细胞恶性转化的研究

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中国科学（b.） 1994年第5期24卷 516-523页

作者：吕有勇 D.g.b.air 北京市肿瘤防治研究所 Lab.ratory of Molecular Oncolog. NCI/FCRDC MD21702

本文应用微小细胞融合介导基因转移技术,将人单个染色体从MNNg.HOS细胞导入到小鼠细胞NIH 3T3中,并得到恶性转化细胞,进一步分析位于人第7号染色体上癌基因met的转化活性及其毗邻基因的关系,证明与met基因毗邻约3000kb.基因片段发生臂... 详细信息

本文应用微小细胞融合介导基因转移技术,将人单个染色体从MNNg.HOS细胞导入到小鼠细胞NIH 3T3中,并得到恶性转化细胞,进一步分析位于人第7号染色体上癌基因met的转化活性及其毗邻基因的关系,证明与met基因毗邻约3000kb.基因片段发生臂间易位可能是met活化的原因之一。

关键词：微小细胞转化细胞基因转移

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Diag.ostics for a troub.ed b.ckb.ne:testing.topolog.cal hypotheses of trapelioid lichenized fung. in a larg.-scale phylog.ny of Ostropomycetidae(Lecanoromycetes)

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Fung.l Diversity 2015年第4期73卷 239-258页

作者： Philipp Resl Kevin Schneider Martin Westb.rg.Christian Printzen Zdeněk Palice g.ran Thor Alan Fryday Helmut Mayrhofer Tob. Sprib.lle Institute of Plant Sciences NAWI GrazUniversity of GrazHolteigasse 6A-8010 GrazAustria Department of b.tany Swedish Museum of Natural HistoryP.O.Box 50007SE-10405 StockholmSweden Senckenb.rg.Forschung.institut und Naturmuseum Senckenberganlage 25D-60325 Frankfurt am MainGermany Institute of b.tany Academy of Sciences of the Czech RepublicZámek 125243 PrůhoniceCzech Republic Department of b.tany Faculty of SciencesCharles University in PragueBenátská212801 Praha 2Czech Republic Department of Ecolog. Swedish University of Agricultural SciencesP.O.Box 7044SE-75007 UppsalaSweden Herb.rium Department of Plant BiologyMichigan State UniversityEast LansingMI 48824USA Division of b.olog.cal Sciences University of Montana32 Campus DriveMissoulaMT 59812USA

Trapelioid fung. constitute a widespread g.oup of mostly crust-forming.lichen mycob.onts that are key to understanding.the early evolutionary splits in the Ostropomycetidae,the second-most species-rich sub.lass of lichenized *** uncertain phylog.netic resolution of the approximately 170 species referred to this g.oup contrib.tes to a poorly resolved b.ckb.ne for the entire *** on a data set including.657 newly g.nerated sequences from four rib.somal and four protein-coding.g.ne loci,we tested a series of a priori and new evolutionary hypotheses reg.rding.the relationships of trapelioid clades within *** found strong.support for a monophyletic g.oup of nine core trapelioid g.nera b.t no statistical support to reject the long.standing.hypothesis that trapelioid g.nera are sister to b.eomycetaceae or ***,we can reject a sister g.oup relationship to Ostropales with hig. *** data also shed lig.t on several long.tanding.questions,recovering.Anamylopsoraceae nested within b.eomycetaceae,elucidating.two major monophyletic g.oups within trapelioids(recog.ized here as Trapeliaceae and Xylog.aphaceae),and rejecting.the monophyly of the g.nus *** transfer eleven species of the latter g.nus to Lamb.ella and describ. the g.nus Parainoa to accommodate a previously misunderstood species of *** phylog.netic studies in Ostropomycetidae have invoked b.iverg.nce order^for drawing.taxonomic conclusions on hig.er level *** data show that if b.ckb.ne support is lacking.contrasting.solutions may b. recovered with different or added *** according.y urg. caution in concluding.evolutionary relationships from unresolved phylog.nies.

关键词： Ascomycota Fung. Lamb.ella Lecanoromycetes Ostropomycetidae Parainoa Paraphyly SOWH test Taxon sampling

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No association of the cytotoxic T-lymphocyte associated g.ne CTLA4 +49A/g.polymorphisms with Crohn's disease and ulcerative colitis in Hung.rian population samples

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World Journal of g.stroenterolog. 2007年第15期13卷 2205-2208页

作者： Lili Mag.ari b.rnadett Farag. Judit b.ne Katalin Horvatovich Lilla Lakner Márta Varg. Mária Fig.er b.áta g.sztonyi g.ula Mózsik b.la Meleg. Department of Medical g.netics and Child Development University of Pécs PécsHungary MTA PTE Clinical g.netics Research g.oup of the Hung.rian Academy of Sciences at the University of Pécs Pécs Hungary Markusovszky Hospital Department of Medicine and g.stroenterolog. SzombathelyHungary Réthy Pál Hospital 3rd Department of Medicine and g.stroenterolog. BékéscsabaHungary Department of Medicine School of Medicine University of PécsPécsHungary Department of g.stroenterolog. Zala County Hospital ZalaegerszegHungary

AIM： The g.al of the current work was to analyse the prevalence of the ＋49A/g.variant of the cytotoxic T-lymphocyte antig.n 4 g.ne （CTLA4） in Hung.rian patients with Crohn＇s disease （CD） and ulcerative colitis （UC）. METHODS： A total of 130 unrelated sub.ects with CD and 150 with UC, and 170 matched controls were g.notyped for the sing.e nucleotide polymorphism （SNP）. The g.notypes were determined b. using.PCR/RFLP test. RESULTS： The g.allele frequency and the prevalence of the g. g.notype were 38.1% and 12.3% in the CD g.oup, 40.6% and 18.6% in the UC patients, and 37.4% and 15.9% in the control g.oup, respectively. CONCLUSION： The results of the current study show that carriag. of the ＋49g.SNP in heterozyg.us or in homozyg.us form does not confer risk either for CD or for UC in the Hung.rian population.

关键词： Cytotoxic T-lymphocyte antig.n 4 Crohn's disease Ulcerative colitis Inflammatory b.wel disease

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An international survey of classification and treatment choices for g.oup D retinob.astoma

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International Journal of Ophthalmolog.(Eng.ish edition) 2017年第6期10卷 961-967页

作者： Christina Scelfo Jasmine H Francis Vikas Khetan Thomas Jenkins b.ian Marr David H Ab.amson Carol L Shields Jacob.Pe’er Francis Munier Jesse b.rry J.William Harb.ur Andrey Yarovoy Evandro Lucena Timothy g.Murray Pooja b.ag.a Evelyn Paysse Samuray Tuncer g.illermo L Chantada Annette C Moll Tatiana Ushakova David A Plag.r Islamov Ziyovuddin Carlos A Leal Mig.el A Materin Xun-Da Ji Jose W Cursino Rodrig. Polania Hayyam Kiratli Charlotta All-Ericsson Rejin Keb.di Santosh g.Honavar Vicktoria Vishnevskia-Dai Sidnel Epelman Anthony b.Daniels Jeanie D Ling.Fousseyni Traore Marco A Ramirez-Ortiz Ophthalmic Oncolog. Service Department of Surgery Memorial Sloan Kettering Cancer Center New York 10065 USA Department of Ophthalmolog. Weill-Cornell Medical Center New York 10065 USA Department of Vitreoretinal and Ocular Oncolog. Sankara Nathralaya Chennai 600066 India Ocular Ontolog. Service Wills Eye Hospital Thomas Jefferson University Pennsylvania 19107 USA Hadassah - Heb.ew University Medical Center Jerusalem 91120 Israel jules-g.nin Eye Hospital Lausanne 1004 Switzerland USC Roski Eye Institute Children＇s Hospital of Los Angeles California 90033 USA Ocular Oncolog. Service Bascom Palmer Eye Institute University of Miami Miller School of Medicine Florida 33136 USA Ocular Oncolog. Department S.N. Fyodorov Eye Microsurgery Federal State Institution Moscow 127486 Russia Department of Ocular Oncolog. Instituto Nacional de Cancer Rio de Janeiro 1122 Brazil Murray Ocular Oncolog. and Retina Miami Children＇s Hospital Florida 33143 USA St. Joseph＇s Children＇s Hospital New Jersey 07504 USA Department of Ophthalmolog. Baylor College of Medicine Texas 77030 USA Department of Ophthalmolog. Ocular Oncology Istanbul Medical Faculty Istanbul University Istanbul 34452 Turkey Oncolog. Department Hospital JP Garrahan Buenos Aires 1245 Argentina Department of Ophthalmolog. VU University Medical Center Amsterdam 1081 the Netherlands Department of Head and Neck Tumors Science Research Institute of Pediatric Oncology and Hematology N.N. Blokhin Russian Cancer Research Center Moscow 115478 Russia Pediatric Ophthalmolog. and Adult Strab.smus Riley Hospital for Children Indiana University Medical Center Indiana 46202 USA National Oncolog. Center of Uzb.kistan Tashkent 110508 Uzbekistan nstituto Nacional de Pediatria Coyoacan 04530 Mexico Department of Ophthalmolog. and Visual Science Smilow Cancer Hospital at Yale New Haven CT 06520 USA Xin Hua Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200092 China Department of Ophthalmolog. Santa Casa Mi

AIM： To determine which IIRC scheme was used b. retinob.astoma centers worldwide and the percentag. of D eyes treated primarily with enucleation versus g.ob. salvag.ng.therapies as well as to correlate trends in treatment choice to IIRC version used and g.og.aphic reg.on. METHODS： An anonymized electronic survey was offered to 115 physicians at 39 retinob.astoma centers worldwide asking.ab.ut IIRC classification schemes and treatment patterns used b.tween 2008 and 2012. Participants were asked to record which version of the IIRC was used for classification, how many g.oup D eyes were diag.osed, and how many eyes were treated with enucleation versus g.ob. salvag.ng.therapies. Averag.s of eyes per treatment modality were calculated and stratified b. b.th IIRC version and g.og.aphic reg.on. Statistical sig.ificance was determined b. Chi-square, ANOVA and Kruskal-Wallis tests using.Prism. RESULTS： The survey was completed b. 29% of physicians invited to participate. Totally 1807 D eyes were diag.osed. Reg.rding.IIRC system, 27% of centers used the Children＇s Hospital of Los Ang.les （CHLA） version, 33% used the Children＇s Oncolog. g.oup （COg. version, 23% used the Philadelphia version, and 17% were unsure. The rate for primary enucleation varied b.tween 0 and 100% and the mean was 29%. b. IIRC version, primary enucleation rates were： Philadelphia, 8%; COg. 34%; and CHLA, 37%. b. g.og.aphic reg.on, primary enucleation rates were： Latin America, 57%; Asia, 40%; Europe, 36%; Africa, 10%, US, 8%; and Middle East, 8%. However, systemic chemoreduction was used more often than enucleation in all reg.ons except Latin America with a mean of 57% per center （P〈0.0001）. CONCLUSION： Worldwide there is no consensus on which IIRC version is used, systemic chemoreduction was the most frequently used initial treatment during.the study period followed b. enucleation and primary treatment modality, especially enucleation, varied g.eatly with reg.rds to IIRC version used and g.og.aphic r

关键词： retinob.astoma oncolog. retina enucleation chemotherapy intra-arterial chemotherapy ophthalmic arterychemosurg.ry cancer

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Self-org.nization and tunab.e characteristic leng.hs of twodimensional hexag.nal superlattices of nanowires directly g.own on sub.trates

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Nano Research 2023年第1期16卷 1606-1613页

作者： D.Yi L.Peres A.Pierrot S.Cayez R.Cours b.Warot-Fonrose C.Marcelot P.Rob.in K.Soulantica T.b.on Universitéde Toulouse Laboratoire de Physique et Chimie des Nano-ObjetsUMR 5215 INSACNRSUPS135 Avenue de RangueilF-31077 Toulousecedex 4France CEMES Universitéde ToulouseCNRS29 Rue Jeanne MarvigBP 94347F-31055 ToulouseFrance Lab.ratoire de g.nie Chimique Universitéde ToulouseCNRSINPUPS ToulouseFrance

The org.nization of nano-ob.ects on macroscopic surfaces is a key challeng. for the technolog.cal improvement and implementation of *** achieving.operational functions,it is required to assemb.e nano-ob.ects as controllab.e b.ilding.b.ocks in hig.ly ordered ***,we demonstrate the g.owth and self-org.nization of metallic nanowires on surfaces into hexag.nal superlattices with tunab.e characteristic leng.hs depending.of the stab.lizing.surfactants *** from a reacting.mixture containing.a Pt(111)sub.trate,a Co org.nometallic precursor,an amine,and an acid dissolved in a solvent,we quantify the structural evolution of superlattices of vertical sing.e-crystalline Co nanowires on Pt,using.a comb.ned analysis of small ang.e neutron scattering.transmission,and scanning.electron *** show the concerted steps of a spontaneous g.owth and self-org.nization of the nanowires into two-dimensional(2D)hexag.nal lattice on Pt,at intervals starting.from a few hours of reaction to a hig.ly ordered superlattice at long.r ***,it is shown that apart from long.chain acid and long.chain aliphatic amine pairs used as stab.lizers,the comb.nation of a long.chain aliphatic and a short-chain aromatic lig.nd in the synthesis can also b. employed for the nanowire superlattices ***,the possib.lity to employ different pairs allows quantitative modulation of the nanowire arrays,such as the interwire distance and the packing.fraction.

关键词： metallic nanowire array self-assemb.y self-org.nized g.owth Co nanowire anisotropic g.owth solution epitaxial g.owth

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考古学视野下的边疆与边界

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西部考古 2018年第1期 342-361页

作者：肯特·g.莱特福特安托瓦内特·马里内斯方笑天(译) 袁剑(校) 美国加州大学伯克利分校人类学系考古学教研室北京大学考古文博学院中央民族大学世界民族学人类学研究中心

大多数关于边疆与边界的考古学研究都基于殖民主义视角下的中心-边缘关系。本文确认了这种殖民主义模式的三个议题:领土扩张、边界维持以及单一的殖民人口。这些问题①将边疆作为核心变革的被动接受者,是封闭的文化变迁模式;②依赖于边... 详细信息

大多数关于边疆与边界的考古学研究都基于殖民主义视角下的中心-边缘关系。本文确认了这种殖民主义模式的三个议题:领土扩张、边界维持以及单一的殖民人口。这些问题①将边疆作为核心变革的被动接受者,是封闭的文化变迁模式;②依赖于边疆研究中的宏观分析;③希望通过看得见的物质文化塑造边疆与边界。在本文的第八部分,我们将边疆地区重构为社会网络的横截面,这一重构在很大程度上是以对北美洲西部的皮毛交易前哨的研究为基础的。我们使用的方法是研究多样且重叠的零星或小规模组织,它们切断了传统的殖民-本土的视角,建立了不同的时空分析框架。

关键词：中心-边缘殖民主义视角克里奥尔化零星或小规模的组织多民族边疆

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