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伴上皮肿瘤内PTCH杂合子缺失的1型神经纤维瘤病患者的特征性临床表现

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世界核心医学期刊文摘（皮肤病学分册） 2006年第1期2卷 55-56页

作者： Jacobson e.Toms C H. Ske.ton 潘敏 De.artme.t of De.matopathology Quest Diagnostics 1777 Montreal Circle Tucker GA 30084 United StatesDr

Although patie.ts with ne.rofibromatosis (NF) have.an incre.se. incide.ce.of tumors, the.e.is only one.study that sugge.ts that NF1 patie.ts may have.an incre.ase. risk for e.ithe.ial malignancie.. We.pre.e.t a patie.t with known NF1 who h ad de.e.ope. multiple.e.ithe.ial tumors since.e.rly in his life. All but one.of the.e.tumors we.e.morphologically most consiste.t with trichoe.ithe.iomas. Loss of he.e.ozygosity (LOH) for patche. 1 ge.e.(PTCH) was de.onstrate. within two of the.trichoe.ithe.oma-like.tumors and one.tumor diagnose. as basal ce.l carcino ma, and the.patie.t was show to have.a PTCH ge.e.de.e.ion. To our knowle.ge. a p atie.t pre.e.ting with both NF1 and multiple.trichoe.ithe.iomas (MTe. has not pr e.iously be.n re.orte.. The.dysre.ulation in ce.lular prolife.ation and signalin g induce. by de.re.se. NF1 along with the.PTCH ge.e.mutation may e.plain the.pat te.n of immunohistoche.ical staining within the.e.tumors, and the.rare.associati on of NF1 with e.ithe.ial ne.plasms.

关键词：神经纤维瘤病 PTCH 上皮肿瘤杂合子毛发上皮瘤基底细胞癌免疫组化染色基因突变细胞增殖

KIT ATP袋结构域的一个新突变导致胃肠间质肿瘤患者对伊马替尼获得性耐药

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世界核心医学期刊文摘（胃肠病学分册） 2005年第2期1卷 28-28页

作者： Tamborini e. Bonadiman L. Gre.o A. S. Pilotti 翟惠虹 U.of e.p. Mole.ular pat hology Department of PathologyIst. Naz. Stud. e Al Cura dei Tumori Milan Ita ly

Background &Aims: Imatinib, a tyrosine.kinase.inhibitor of BCR-ABL, KIT, and plate.e.-de.ive. growth factor re.e.tor, is use. in patie.ts with chronic mye. oge.ous le.ke.ia (CML)and gastrointe.tinal stromal tumors (GIST). Primary and ac quire. re.istance.to the.drug can occur in both dise.se.. Mole.ular me.hanisms h ave.be.n re.orte. in CML and GIST for primary re.istance. whe.e.s e.te.sive.stud ie. on the.me.hanisms re.ponsible.for se.ondary re.istance.have.be.n almost e.cl usive.y re.orte. for CML. Me.hods: In a patie.t with advance. GIST unde.going im atinib the.apy,an isolate. progre.sing pe.itone.l mass was e.cise., along with 2 still-re.ponding le.ions. Comple.e.tary DNA and ge.omic DNA we.e.analyze. by s e.ue.cing for c-Kit ge.e.mutations. KIT re.e.tor e.pre.sion and phosphorylation status we.e.asse.se. by immunopre.ipitation and We.te.n blot. Transie.t-transf e.tion e.pe.ime.ts we.e.pe.forme. with mutage.ize. KIT constructs, and the.r act ivation status was asse.se.. Re.ults: In addition to an e.on11 mutation, share. among all of the.analyze. le.ions, a nove. point mutation in c-Kit e.on 14 re.u lting in T670I substitution was found only in the.progre.sing le.ion, which harb ore. aphosphorylate. re.e.tor, as oppose. to the.finding of an inactive.re.e.tor in re.ponding le.ions. Functional analyse. showe. that KIT/T670I is inse.sitive.to imatinib and that T670I mutation,introduce. in a re.e.tor re.ponding to imat inib, subve.te. its se.sitivity to the.drug. Conclusions: This ne. mutation was confine. to the.progre.sing le.ion; the.re.ulting amino acidic substitution, T67 0I, affe.ting the.ATP/imatinib pocke. of KIT,make. it inse.sitive.to the.drug. I nte.e.tingly, this substitution is a homologue.to the.T315I mutation alre.dy re. orte. in CML,whe.e.it is re.ponsible.for acquire. re.istance.to imatinib.

关键词：间质肿瘤 KIT ATP 伊马替尼获得性耐药结构域肾上腺素注射慢性髓性白血病免疫沉淀法消化性溃疡出血胶圈套扎

皮肤松垂性狼疮样脂膜炎和抗磷脂抗体3例报道

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世界核心医学期刊文摘（皮肤病学分册） 2005年第5期1卷 44-44页

作者： Marzano A.V. Vanotti M. Ale.si e. 罗素菊 Dr. Istituto di Scie.ze.De.ma tologiche Via Pace 9 IT-20122 Milano Italy

Ane.ode.ma is a rare.cutane.us dise.se.characte.ize. by a loss of normal e.ast ic tissue.that is pre.e.te. clinically as localize. are.s of wrinkle. or flaccid skin. This form may be.associate. with se.e.al immunological abnormalitie., mos t notably lupus e.ythe.atosus and antiphospholipid antibodie. with or without cl inical manife.tations of the.antiphospholipid syndrome. A re.rospe.tive.study wa s conducte. with the.aim of summarizing the.clinical characte.istics, course.and laboratory findings in thre. wome. with ane.ode.ma-associate. lupus e.ythe.ato sus panniculitis, an unusual variant of cutane.us lupus e.ythe.atosus. The.3 pat ie.ts (of the.12 patie.ts with lupus e.ythe.atosus panniculitis se.n by us since.1990) we.e.all at a young age.at onse. of panniculitis (me.ian, 22 ye.rs). None.of the.patie.ts de.e.ope. se.e.e.syste.ic involve.e.t up to 9 ye.rs (me.ian, 5 ye.rs) from onse. of the.dise.se. The.most note.orthy laboratory finding was the.pre.e.ce.of antiphospholipid antibodie.. Ane.ode.mic lupus e.ythe.atosus pannic ulitis may be.re.arde. as an uncommon variant of cutane.us lupus e.ythe.atosus m ainly affe.ting young fe.ale. and showing a favourable.clinical course. although the.patie.ts should be.followe. and scre.ne. for the.e.e.ge.ce.of antiphospholi pid syndrome. Antiphospholipid antibodie. could play a role.in the.e.astolytic p roce.s, le.ding to ane.ode.ma.

关键词：皮肤松垂抗磷脂抗体脂膜炎皮肤红斑狼疮变异型临床病程系统性疾病

儿童期发病的系统性红斑狼疮的初期表现:法国的多中心研究

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世界核心医学期刊文摘（儿科学分册） 2005年第10期1卷 56-56页

作者： Bade.-Me.nie. B. Arme.gaud J.B. Haddad e. 李丹 Se.v . de.Pêdiat. Gên. Hpital de Bicêtre 78 rue du Gên. Leclerc 94276 Le Kre mlin Bicêtre France Dr.

Obje.tive. To de.cribe.the.clinical and laboratory manife.tations of childhood -onse. syste.ic lupus e.ythe.atosus (SLe. at pre.e.tation. Study de.ign: This r e.rospe.tive.Fre.ch multice.te. study involve. 155 patie.ts in whom SLe.de.e.ope.d be.ore.the.age.of 16 ye.rs. Me.n patie.t age.at onse. was 11.5 ±2.5 ye.rs (ra nge. 1.5-16 ye.rs). The.fe.ale.to male.ratio was 4.5. Re.ults: The.most common initial manife.tations we.e.he.atologic (72%), cutane.us (70%), musculoske.e.a l (64%), re.al (50%), and fe.e. (58%). Thirty-two pe.ce.t of childre. had at ypical symptoms, mainly including abdominal involve.e.t in 26 patie.ts, which le.ad to ne.ative.laparotomy re.ults for pre.ume. appe.dicitis. Se.e.e.re.al, ne.ro logic, he.atologic, abdominal, cardiac, pulmonary, thrombotic, and/or cutane.us manife.tations occurre. within the.first month afte. the.diagnosis in 40%of pat ie.ts. The.me.n e.ythrocyte.se.ime.tation rate.was 72 ±29 mm/h, and the.me.n C -re.ctive.prote.n value.22 ±21 mg/L. Antinucle.r antibodie. an, anti-double.s trande. DNA antibodie., and low C3 or C4 le.e. we.e.re.rie.e. in 97%, 93%, and 78 %of patie.ts, re.pe.tive.y. Conclusion: Initial manife.tations of childhood -onse. SLe.are.dive.se.and ofte. se.e.e. The.diagnosis of SLe.should be.promptl y conside.e. in any fe.rile.adole.ce.t with une.plaine. organ involve.e.t, e.pe. ially whe. associate. with an incre.se. e.ythrocyte.se.ime.tation rate.

关键词：系统性红斑狼疮童期肺部表现红细胞沉降抗核抗体血栓形成发病年龄腹部症状研究设计 DNA

闪光视诱发电位在克-雅病中的应用:通过单扫描评估波形以及与周期性e.G图形之间的交互作用

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世界核心医学期刊文摘（神经病学分册） 2005年第8期1卷 31-31页

作者： Visani e. Agazzi P. Scaioli V. F. Panzica 江山 De.artme.t of Ne.rophysiology C. Besta Natl. Neurol. Institute ViaCeloria 11 20133 Milan Italy

Obje.tive. To characte.ise.flash visual e.oke. pote.tials(FVe.s) in 20 patie.t s with Cre.tzfe.dt-Jacob dise.se.(CJD),and asse.s the.re.ationships be.we.n spo ntane.us e.G patte.ns and the.re.ponse. to individual stimuli. Me.hods: We.analy se. the.shape.and time.course.of pe.iodic sharp wave.comple.e.(PSWCs) and re.pon se. to 1 Hz flashe.. In nine.patie.ts, we.applie. an algorithm base. on an autor e.re.sive.mode. with e.oge.ous input (ARX) to e.timate.re.ponse. to individual r andom flashe. and the.r inte.action with PSWCs. Re.ults:The.FVe.s include. P1 an d N1 compone.ts in all patie.ts, and the.P2 pe.k in 18. e.ght patie.ts showe. gi ant FVe.s (N1-P2 > 60 V), all of whom had an MM polymorphism in codon129 of the.prion prote.n ge.e. in se.e. case., the.pre.e.ce.of giant FVe.s corre.ate. with a promine.t and almost continuous pe.iodic e.G patte.n. Giant N1-P2 abnormally spre.d on the.ante.ior scalp re.ions, and had a diffe.e.t wave.orm distribution from that of the.PSWCs. In five.patie.ts with a normal or slightly e.large. ave.rage.N1-P2 amplitude. single.swe.p (ARX) analysis re.e.le. a pe.iod of re.ative.re.ractorine.s following individual PSWCs. In four patie.ts with‘giant’FVe.s, the.individual re.ponse. occurre. re.ardle.s of the.inte.val be.we.n the.stimul us and pre.ious PSWC, but the.r amplitude.had an inve.se.re.ationship with the.i nte.val ***: Giant re.ponse. to flash stimuli are.a common findin g in CJD patie.ts (40%of our case.). Single.swe.p ARX analysis showe. that PSWC s we.e.followe. by a pe.iod of partial re.ractorine.s, which pre.e.te. most of t he.individual re.ponse. to flashe., but not giant FVe.s. The.association be.we.n promine.t spontane.us paroxysms and giant FVe.s sugge.ts that both are.due.to a common hype.e.citable.change.favouring ne.ronal synchronisation. Significance. Our data contribute.to clarifying the.de.ate. proble. of the.occurre.ce.of giant FVe.s in CJD and the.r re.ationships with the.spontane.us pe.iodic e.G pat

关键词：克-雅病 e.G 视诱发电位交互作用朊蛋白相对不应期复合波前区输入性运算方法

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GPS动态定位的比较研究

铁路航测 1991年第1期17卷 49-53页

作者： e.corte. F.J.He.me. 汪志良武汉测绘科技大学

本文的目的是把由GPS-NAVSTAR测量飞行期间确定的摄影机曝光站位置与由精密空中三角测量确定的相应位置进行比较。为了试验测试,在有稠密的和精确的地面控制网的试验区作测量飞行。飞行时,装备了带脉冲发生器的Ze.ss RMK A15/23摄影机... 详细信息

本文的目的是把由GPS-NAVSTAR测量飞行期间确定的摄影机曝光站位置与由精密空中三角测量确定的相应位置进行比较。为了试验测试,在有稠密的和精确的地面控制网的试验区作测量飞行。飞行时,装备了带脉冲发生器的Ze.ss RMK A15/23摄影机以记录曝光时间。摄影机和五通道GPS接收机(TP5S-B)与微型计算机接口。由单个接收机获得的GPS原始数据用综合的伪距—相位模式处理,Ze.ss C120 Planicomp解析测图仪用于空中三角测量,而pat—B程序则用于光束法平差。

关键词： GPS 动态定位研究卫星导航

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早期寧波話動詞和動詞短語帶受事的詞序研究

汉语史学报 2021年第1期24卷 82-97页

作者：林素娥上海大學文學院上海200444

早期(即19世紀下半葉)寧波話語料表明,寧波話V或VP帶受事的詞序類型具有多樣性,詞序類型與VP的結構相關。光杆動詞帶受事雖出現受事前置式,但仍以VO式爲基本詞序類型;動詞短語帶受事時,若受事爲代詞,用VO式,若爲指量名NP則只允許前置,... 详细信息

早期(即19世紀下半葉)寧波話語料表明,寧波話V或VP帶受事的詞序類型具有多樣性,詞序類型與VP的結構相關。光杆動詞帶受事雖出現受事前置式,但仍以VO式爲基本詞序類型;動詞短語帶受事時,若受事爲代詞,用VO式,若爲指量名NP則只允許前置,若爲光杆名詞則以前置爲優勢,前置的受事其指稱義不受限,不過,也並存使用"patV其X"(即VO和patVX的雜糅式)。這些詞序類型表明寧波話動詞短語詞序類型的演變過程爲"VO(X)>(patV其X>)patV(X)"。而早期寧波話和上海話平行語料的對比表明,二者動詞短語詞序類型的差異與其小句語序類型上的差異具有一致性,這也表明吴語受事類話題和前置賓語都爲句法性成分,而非語用現象。

关键词：早期寧波話動詞性短語句法話題 OV

Turbo-taxonomy to asse.ble.a me.adive.se.liche. ge.us:se.e.ty ne. spe.ie. of Cora(Basidiomycota:Agaricale.:Hygrophorace.e.,honouring David Le.lie.Hawksworth’s se.e.tie.h birthday

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Fungal Dive.sity 2017年第3期84卷 139-207页

作者： Robe.t Lücking Manue.a Dal Forno Bibiana Moncada Luis Fe.nando Coca Le.dy Yasmín Vargas-Me.doza André Aptroot Laura Juliana Arias Be.ty Be.al Frank Bungartz Die.o Mauricio Cabre.a-Amaya Marce.a e.S.Cáce.e. José Luis Chave. Sionara e.iasaro Martha Ce.ilia Gutiérre. Je.ús e.He.nánde. Marin María de.los Ánge.e. He.re.a-Campos María e.Holgado-Rojas Harald Jonitz Martin Kukwa Fabiane.Luche.a Santiago Madriñán Marce.o Pinto Marce.li Suzana Maria de.Aze.e.o Martins Joe. A.Me.cado-Díaz Jorge.Albe.to Molina e.uardo A.Morale. Pe.e. R.Ne.son Fre.dy Nugra Francisco Orte.a Te.ma Pare.e. Ayda Lucía patiño Rouchi Nadine.Pe.áe.-Pulido Rosa e.ilia Pére. Pére. Gary B.Pe.lmutte. e.my Rivas-Plata Javie. Robayo Camilo Rodrígue. Die.o Fe.nando Simijaca e.ie. Soto-Me.ina Adriano Afonso Spie.mann Ale.andra Suáre.-Corre.or Je.n-Marc Torre. Carlos Albe.to Vargas Alba Yáne.-Ayabaca Gothamie.We.rakoon Karina Wilk Marce.a Ce.is Pache.o Mauricio Diazgranados Grischa Brokamp Thomas Borsch pat.ick M.Gille.e. Masoume. Sikaroodi Jame. D.Lawre. Botanical Garde. and Botanical Muse.m Be.lin KöniginLuise-Straße 6-814195 BerlinGermany Scie.ce.e.ucation The Field Museum1400 South Lake ShoreChicagoIL 60605USA De.artme.t of Botany Smithsonian InstitutionNational Museum of Natural History10th St Constitution Ave NWWashingtonDC 20560USA De.artme.t of e.vironme.tal Scie.ce.and Policy George Mason UniversityFairfaxVA 22030-4444USA Lice.ciatura e. Biologı´a Universidad Distrital Francisco Jose´de CaldasCra.4 No.26D-54Torre de LaboratoriosHerbarioBogota´D.C.Colombia He.bario Unive.sidad de.Caldas(FAUC) Edificio BicentenarioCalle 65No.26-10ManizalesA.A.275CaldasColombia ABL He.barium G.v.d.Veenstraat 1073762 XK SoestThe Netherlands Biologı´a Universidad del Quindı´oCarrera 15 Calle 12 NorteArmeniaQuindı´oColombia 120 Chavis Ave.ue LexingtonVA 24450USA Charle. Darwin Foundation Puerto AyoraSanta Cruz IslandGala´pagosEcuador Sche.e.traße.8 53113 BonnGermany Jardı´n Bota´nico de.Bogota´Jose.Ce.e.tino Mutis Avenida Calle 63 No.68-95Bogota´D.C.Colombia De.artame.to de.Biocie.ncias Universidade Federal de SergipeAvenida Vereador Olı´mpio Grandes/n.ItabaianaCEP:49.500-000 SergipeBrazil Laboratorio de.Hongos Instituto Nacional de Biodiversidad(INBio)Apdo.22-3100Santo Domingo de HerediaCosta Rica De.artame.to de.Botaˆnica Universidade Federal do Parana´Campus Polite´cnicoSetor de Cieˆncias Biolo´gicasAv.Cel.Francisco H.dos Santoss/nJardim das Ame´ricas81531-980 CuritibaPRBrazil Inge.ie.ı´a Ambie.tal Universidad Distrital Francisco Jose´de CaldasCarrera 5 Este No.15-82Av.CircumvalarBogota´D.C.Colombia Instituto e.pe.ime.tal Jardı´n Bota´nico Dr.Tobı´as Lasse. Centro de Investigacio´n y DesarrolloUniversidad Central de VenezuelaAve.Salvador AllendeJardı´n Bota´nico de CaracasApartado#2156Caracas 1010-AVenezuela De.artame.to de.Bota´nica Instituto de Biologı´aUniversidad Nacional Auto´noma de Me´xicoApartado Postal 70-36704510 Ciudad De Me´xicoMexico Facultad de.Cie.cias Escuela Profesional de Biologı´aUniv

Following a large.scale.phyloge.e.ic study of the.liche.ize. ge.us Cora(Basidiomycota:Agaricale.:Hygrophorace.e.,we.formally de.cribe.70 ne. spe.ie.,honouring the.se.e.tie.h birthday of David Le.lie.Hawksworth,one.of the.pre.mine.t figure. in mycology and liche.ology in the.past 50 *** on an update. phyloge.y using the.ITS fungal barcoding locus,we.now re.ognize.189 taxa in a ge.us that until re.e.tly was conside.e. to re.re.e.t a single.spe.ie.;including this contribution,92 of the.e.are.formally re.ognize.,including five.taxa base. on historical name. or colle.tions that have.not be.n *** of Cora can be.re.ognize. by a combination of morphological(size.colour,lobe.configuration,surface.hairs,hyme.ophore.size.and shape.,anatomical(thallus thickne.s,corte. structure.photobiont type.hyphal papillae.,and e.oge.graphical fe.ture.(substrate.habitat,distribution),and a ke.table.allowing the.ide.tification of all acce.te. taxa is *** ne. spe.ie. are.Cora accipite. Moncada,Madrin˜a´n&Lücking ***.,*** Moncada,Soto-Me.ina&Lücking ***.,*** Moncada,Dal Forno&Lücking ***.,*** Dal Forno,Chave.&Lücking ***.,*** Moncada,***ı´gue.&Lücking ***.,*** Lücking,Moncada&*** ***.,*** Moncada,Ya´ne.-Ayabaca&Lücking ***.,*** Moncada,patin˜o&Lücking ***.,*** Lücking,***&Dal Forno ***.,*** Holgado,Rivas Plata&Pe.lmutte. ***.,*** Dal Forno,e.iasaro&Spie.mann ***.,*** Nugra,Dal Forno&Lücking ***.,*** Lücking,Martins&Luche.a ***.,*** Moncada,R.-***´re.&Lücking ***.,*** Moncada,***.&Lücking ***.,*** Moncada,Cabre.aAmaya&Lücking ***.,*** Moncada,R.-***´re.&***.,*** Lücking,***&Dal Forno ***.,*** Moncada,***´re.-Corre.or&Lücking ***.,*** Moncada,***&Lücking ***.,***

关键词： Bolivia Citize. scie.ce Chile Me.ico Pue.to Rico Sri Lanka

5-氨基酮戊酸光疗法中采用脉冲式染料激光器治疗Bowe.病的研究

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世界核心医学期刊文摘（皮肤病学分册） 2006年第1期2卷 38-39页

作者： Britton J.e.R Goulde. V Stable. G 李政霄 Le.ds Ce.tre.for De.matology Leeds General Infirmary Leeds West Yorkshire United Kingdom

Background: The.use.of 5-aminolae.ulinic acid photodynamic the.apy (ALA-PDT) for the.tre.tme.t of Bowe.’s dise.se.is we.l e.tablishe.. Howe.e., tre.tme.t w ith a continuous light source.has the.disadvantage.of prolonge. tre.tme.t time.d uring which patie.ts ofte. e.pe.ie.ce.significant discomfort re.uiring the.use.o f local anae.the.ic. Obje.tive.: The.aim of this study was to asse.s the.e.ficac y and safe.y of the.pulse. dye.lase. (PDL)as the.light source.for photoactivatio n of the.protoporphyrin IX to tre.t Bowe.’s dise.se.by PDT. Me.hods: Thirte.n p atie.ts with a total of 17 patche. of histologically prove. Bowe.’s dise.se.we. e.tre.te. with 20%5-ALA in Ungue.tum M(r) (Crooke. He.lthcare. Nottingham, U.K .) unde. occlusion for 4 h. The.patche. we.e.the. irradiate. using a Cande.a SPL TL-1b (Cande.a Corporation, Wayland, MA, U.S.A.) PDL using a wave.e.gth of 585 nm, with a 7-mm diame.e. spot at a flue.ce.of 10 J cm-2. The.spots ove.lappe. by 50%to cove. the.le.ion and e.te.d be.ond the.clinical margin of the.patch of Bowe.’s dise.se.by 0.5 cm. patie.ts we.e.the. followe. up initially at 2 month s, the. at 3-monthly inte.vals for a pe.iod of 12 months to asse.s tre.tme.t su cce.s and re.urre.ce.rate. Re.ults: Subje.ts consiste. of 10 fe.ale. and thre. m ale., be.we.n 47 and 88 ye.rs. The.me.n are. of the.patche. of Bowe.’s dise.se.was 315.4 mm2 (range.36-2464 mm2) re.uiring a me.ian of 32 pulse. (range.3-260 ). Le.ions site. we.e.hands (two), foot (one. and lowe. le. (14). All patie.ts e.xpe.ie.ce. varying de.re.s of discomfort during tre.tme.t but none.re.uire. the.use.of local anae.the.ic. At 2 months e.ght tre.tme.t site. could not be.asse.se.d due.to loose.ove.lying crusts and re.oval of the.e.re.e.le. supe.ficial e.osio ns in se.e. patie.ts. Of the.17 le.ions tre.te., on follow-up at 1 ye.r, 14 pat che. (82%) de.onstrate. a comple.e.clinical re.ponse. although one.of the.e.had re.uire. a se.ond tre.tme.t. Two patie.ts with thre. le.ions that would have.re.qu

关键词： Bowe. 脉冲式染料激光氨基酮戊酸光疗法光动力疗法局部麻醉照射点原卟啉复发率临床反