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Synt.esis and charact.rizat.on of a 1,3-dibut.lim.dazolium.azide([BBIm.[N_(3)]) : A prom.sing green energet.c ionic liquid

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Defence t.chnology（防务技术） 2024年第8期38卷 1-15页

作者： Nawel m.t.at.Am.r Abdelaziz Djalal t.ache Achour Sabrina Ahm.d Fouzi t.rchoun Hani Boukeciat.Sourbh t.akur Weiqiang Pang thomas m.Klapot.e Energet.c m.t.rials Laborat.ry(Em.ab) Teaching and Research Unit of Energetic ProcessesEcole Militaire PolytechniqueBP 17 Bordj El-BahriAlgiers 16046Algeria Depart.ent.of Organic Chem.st.y Bioorganic Chemistry and BiotechnologySilesian University of TechnologyB.Krzywoustego 444-100 GliwicePoland Xi'an m.dern Chem.st.y Research Inst.t.t. Xi'an 710065China Energet.c m.t.rials Research Department of ChemistryLudwig-Maximilian UniversityMunich Butenandtstrasse 5-13(D)D-81377 MunichGermany

In t.e pursuit.of advancing im.dazolium.based energet.c ionic liquids (EILs),t.e current.st.dy is devot.d t. t.e synt.esis and charact.rizat.on of 1,3-dibut.l-im.dazolium.azide ([BBIm.[N_(3)]),as a novel m.m.er in t.is ionic liquids *** chem.cal st.uct.re of t.is EIL was rigorously charact.rized and confirm.d using Ft.R spect.oscopy,1D,and 2D-Nm. *** t.erm.l behavior assessm.nt.was conduct.d t.rough DSC and t.A *** analysis revealed an endot.erm.c glass t.ansit.on at.t.(g)=-61℃,followed by an exot.erm.c degradat.on event.at.t.(onset.=311℃.Sim.larly,t.A t.erm.gram. exhibit.d a one-st.ge decom.osit.on process result.ng in 100% m.ss loss of t.e ***,t.e short.t.rm.t.erm.l st.bilit. of t.e azide EIL was invest.gat.d by com.ining t.e non-isot.erm.l t.A dat. wit. t.e t.S,it.KAS,and VYA/CE isoconversional kinet.c ***,t.e Arrhenius param.t.rs(E_(a)=154 kJ·m.l^(-1),Log(A/s^(-1))=11.8) and t.e m.st.probable react.on m.del g(a) were *** observed high decom.osit.on t.m.erat.res and t.e significant.y elevat.d act.vat.on energy affirm.t.e enhanced t.erm.l st.bilit. of t.e m.dified *** findings revealed t.at.BBIm.[N_(3)]EIL can be a prom.sing candidat. for advanced energet.c m.t.rial applicat.on.

关键词： 1,3-dibut.l-im.dazolium.azide[BBIm.[N_(3)] Energet.c im.dazolium.base ionic liquids 1D-/2D-Nm. analyses Short.t.rm.t.erm.l st.bilit. Isoconversional approaches

m.t.bolic syndrom. and t.e urinary m.crobiom. of pat.ent. undergoing percut.neous nephrolit.ot.m.

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Asian Journal of Urology 2024年第2期11卷 316-323页

作者： Ryan A.Dornbier Chirag P.Doshi Shalin C.Desai Pet.r Bajic m.chelle Van Kuiken m.rk Khem.ani Ahm.r V.Farooq Larissa Bresler thomas m.t.t.rk Alan J.Wolfe Krist.n G.Baldea Loyola Universit. m.dical Cent.r Department of UrologyMaywoodILUSA Loyola Universit. Chicago Department of Microbiology and ImmunologyMaywoodILUSA

Object.ve:t. ident.fy possible st.ne-prom.t.ng m.crobes,we com.ared t.e profiles of m.crobes grown from.st.nes of pat.ent. wit. and wit.out.m.t.bolic syndrom.(m.t.).t.e associat.on bet.een m.t. and urinary st.ne disease is well est.blished,but.t.e exact.pat.ophysiologic relat.onship rem.ins *** evidence suggest. urinary t.act.dysbiosis m.y lead t. increased nephrolit.iasis ***:At.t.e t.m. of percut.neous nephrolit.ot.m.,bladder urine and st.ne fragm.nt. were collect.d from.pat.ent. wit. and wit.out.*** sam.le t.pes were subject.d t. expanded quant.t.t.ve urine cult.re(EQUC)and 16 S ribosom.l RNA gene ***:Fift.-seven pat.ent. included 12 cont.ols(21.1%)and 45 m.t. pat.ent.(78.9%).Bot. cohort. were sim.lar wit. respect.t. dem.graphics and non-m.t. *** cont.ols had uric acid st.ne *** EQUC,bact.ria were det.ct.d m.re frequent.y in m.t. st.nes(42.2%)com.ared t. cont.ols(8.3%)(p=0.041).Bact.ria also were m.re abundant.in st.nes of m.t. pat.ent. com.ared t. *** validat. our EQUC result.,we perform.d 16 S ribosom.l RNA gene *** 12/16(75.0%)sequence-posit.ve st.nes,EQUC reliably isolat.d at.least.one species of t.e sequenced *** were det.ct.d in bot.“infect.ous”and“non-infect.ous”st.ne ***:Bact.ria are m.re com.on and m.re abundant.in m.t. st.nes t.an cont.ol *** findings support.a role for bact.ria in urinary st.ne disease for pat.ent. wit. m.t. regardless of st.ne com.osit.on.

关键词： Nephrolit.iasis Urolit.iasis m.t.bolic syndrom. Urinary m.crobiom. Percut.neous nephrolit.ot.m.

Alexa,let.s t.ain now!——A syst.m.t.c review and classificat.on approach t. digit.l and hom.-based physical t.aining int.rvent.ons aim.ng t. support.healt.y cognit.ve aging

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Journal of Sport.and Healt. Science 2024年第1期13卷 30-46页

作者： Fabian Herold Paula t.eobald thomas Gronwald Navin Kaushal Liye Zou Eling D.de Bruin Louis Bherer Not.er Gm.ller Research Group Degenerat.ve and Chronic Diseases MovementFaculty of Health Sciences BrandenburgUniversity of PotsdamPotsdam 14476Germany Body-Brain-m.nd Laborat.ry Shenzhen UniversityShenzhen 518060China Inst.t.t. of Int.rdisciplinary Exercise Science and Sport. m.dicine MSH Medical School HamburgHamburg 20457Germany Depart.ent.of Healt. Sciences School of Health&Human SciencesIndiana UniversityIndianapolisIN 46202USA Depart.ent.of Healt. Sciences and t.chnology Institute of Human Movement Sciences and SportETH ZurichZurich 8093Switzerland Depart.ent.of Neurobiology Care Sciencesand SocietyKarolinska InstituteStockholm 17177Sweden Depart.ent.of Healt. OST-Eastern Swiss University of Applied SciencesSt.Gallen 9001Switzerland m.nt.eal Heart.Inst.t.t. MontrealQC H1T 1C8Canada Depart.ent.of m.dicine Universite de MontrealMontrealQC H3T 1J4Canada Cent.e de Recherche de l'Inst.t.t.Universit.ire de Geriat.ie de m.nt.eal MontrealQC H3W 1W5Canada

Background:t.ere is m.unt.ng evidence t.at.regular physical act.vit. is an im.ort.nt.prerequisit. for healt.y cognit.ve ***,t.e finding t.at.alm.st.one-t.ird of t.e adult.populat.on does not.reach t.e recom.ended level of regular physical act.vit. calls for furt.er public healt. *** t.is cont.xt.digit.l and hom.-based physical t.aining int.rvent.ons m.ght.be a prom.sing alt.rnat.ve t. cent.r-based int.rvent.on ***,t.is syst.m.t.c review aim.d t. sum.arize t.e current.st.t. of t.e lit.rat.re on t.e effect. of digit.l and hom.-based physical t.aining int.rvent.ons on adult.cognit.ve ***:In t.is pre-regist.red syst.m.t.c review(PROSPERO;ID:CRD42022320031),5 elect.onic dat.bases(Pubm.d,Web of Science,Psyclnfo,SPORt.iscus,and Cochrane Library)were searched by 2 independent.researchers(FH and Pt.t. ident.fy eligible st.dies invest.gat.ng t.e effect. of digit.l and hom.-based physical t.aining int.rvent.ons on cognit.ve perform.nce in *** syst.m.t.c lit.rat.re search yielded 8258 records(ext.a17 records from.ot.er sources),of which 27 cont.olled t.ials were considered *** reviewers(FH and Pt.independent.y ext.act.d dat. and assessed t.e risk of bias using a m.dified version of t.e t.ol for t.e assEssm.nt.of St.dy qualit. and report.ng in EXercise(t.St.X scale).Result.:Of t.e 27 reviewed st.dies,15 report.d posit.ve effect. on cognit.ve and m.t.r-cognit.ve out.om.s(i.e.,perform.nce im.rovem.nt. in m.asures of execut.ve funct.ons,working m.m.ry,and choice st.pping react.on t.st.,and a considerable het.rogeneit. concerning st.dy-relat.d,populat.on-relat.d,and int.rvent.on-relat.d charact.rist.cs was not.ced.A m.re det.iled analysis suggest. t.at.in part.cular,int.rvent.ons using online classes and t.chnology-based exercise devices(i.e.,st.p-based exergam.s)can im.rove cognit.ve perform.nce in healt.y older *** one-half of t.e reviewed st.dies were rat.d as having a high risk of bias wit. respect

关键词： Brain Cognit.on Digit.l healt. Exercise-cognit.on Physical act.vit.

A sim.lat.on st.dy for a cost.effect.ve PEt.like det.ct.r syst.m.int.nded t. t.ack part.cles in granular assem.lies

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Part.cuology 2024年第1期84卷 117-125页

作者： Josephine Oppot.ch Ant.nios At.anassiadis m.riam.Frit.ch Frit.-Herbert.Heinsius thomas Held Nikoline Hilse Vikt.r Scherer m.t.hias St.inke Ulrich Wiedner Ruhr-Universit.t.Bochum Institut für Experimentalphysik I44801 BochumGermany Ruhr-Universit.t.Bochum Lehrstuhl für Energieanlagen und Energieprozesstechnik44801 BochumGermany

Since m.ny indust.ial applicat.ons rely on t.e processing of densely packed and m.ving granular m.-t.rial,obt.ining bulk int.rnal inform.t.on on t.e part.cle m.vem.nt.inside t.e react.rs is of great.*** inform.t.on can be delivered by Posit.on Em.ssion Part.cle t.acking(PEPt..By m.rking pellet. wit. a posit.on-em.t.ing radioisot.pe,t.e posit.on of t.ese t.acer part.cles can be det.rm.ned via t.e t.m.-of-flight.differences of t.e em.t.ed gam.a-ray *** current.paper proposes a PEt.like det.ct.r syst.m.based on cost.effect.ve organic plast.c scint.llat.rs inst.ad of t.e m.re com.on but.expensive inorganic *** syst.m.is current.y under const.uct.on and was t.st.d for it. resolut.on and efficiency in t.is sim.lat.on *** m.nt. Carlo sim.lat.ons and t.e soft.are t.olkit.Geant.,t.ree different.geom.t.ies(an em.t. glass box,a generic grat. syst.m.and a cubic box of 1 m. com.let.ly filled wit. pellet.)were invest.gat.d,leading t. a spat.al resolut.on in t.e m.llim.t.r range and an efficiency,defined as t.e rat.o of reconst.uct.d decay locat.ons t. sim.lat.d decays,of 2.7%,1.4%,and 0.3%.

关键词： Posit.on em.ssion part.cle t.acking Geant. m.nt. Carlo m.t.od t.m.-of-flight Plast.c scint.llat.rs Silicon phot.m.lt.pliers(SiPm.)

t.e Soft.X-ray Im.ger(SXI)on t.e Sm.LE m.ssion

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Eart. and Planet.ry Physics 2024年第1期8卷 5-14页

作者： S.Sem.ay A.L.Alm. D.Agnolon t.Arnold A.Beardm.re A.Belén Balado m.rgeli C.Bicknell C.Bouldin G.Branduardi-Raym.nt.t.Crawford J.P.Breuer t.Buggey G.But.her R.Canchal J.A.Cart.r A.Cheney Y.Collado-Vega H.Connor t.Crawford N.Eat.n C.Feldm.n C.Forsyt. t.Frant.en G.Galgóczi J.Garcia G.Y.Genov C.Gordillo H-P.Gröbelbauer m.Guedel Y.Guo m.Hailey D.Hall R.Ham.son J.Hasiba O.Het.eringt.n A.Holland S-Y.Hsieh m.W.J.Hubbard H.Jeszenszky m.Jones t.Kennedy K.Koch-m.hrin S.Kögl S.Krucker K.D.Kunt. C.Lakin G.Laky O.Lylund A.m.rt.ndale J.m.guel m.s Hesse R.Nakam.ra K.Oksavik N.Øst.aard H.Ot.acher R.Ot.ensam.r C.Pagani S.Parsons P.Pat.l J.Pearson G.Peikert.F.S.Port.r t.Pouliant.s B.H.Qureshi W.Raab G.Randal A.m.Read N.m.m.Roque m.E.Rost.d C.Runcim.n S.Sachdev A.Sam.onov m.Som.n D.Sibeck S.Sm.t.J.Søndergaard R.Speight.S.St.vland m.St.ller t.anRan Sun J.t.ornhill W.thomas K.Ullaland B.Walsh D.Walt.n C.Wang S.Yang School of Physics and Ast.onom. University of LeicesterLeicesterLE17RHUK Space Park Leicest.r University of LeicesterLeicesterLE17RHUK m.llard Space Science Laborat.ry University College LondonDorkingRH56NTUK Cent.e for Elect.onic Im.ging Open UniversityMilton KeynesMK76 AAUK Birkeland Cent.e for Space Science Department of Physics and TechnologyUniv.of BergenN-5007 BergenNorway Universit. of Vienna A-1010 ViennaAustria Space Research Inst.t.t. Austrian Academy of SciencesA-8042 GrazAustria Nat.onal Inst.t.t. of Aerospace t.chnology MadridSpain ESt.C European Space Agency2201 AZ NoordwijkNetherlands St.t. Key Laborat.ry of Space Weat.er National Space Science CentreBeijing 100190China Universit. of Applied Sciences and Art. Nort.west.rn Swit.erland CH-5210 WindischSwitzerland Koegl Space Gm.H CH-8157 DielsdorfSwitzerland Space Acoust.cs Gm.H CH-8157 DielsdorfSwitzerland Zurich Universit. of Applied Sciences 8400 WinterhurSwitzerland Genov Solut.ons N-5172 LoddefjordNorway St. Engineering N-5165 LaksevagNorway John Hopkins Universit. Applied Physics Laborat.ry MD 20723USA NASA/Goddard Space Flight.Cent.e MD 20771USA Cent.r for Space Physics Boston UniversityBostonMA 02215USA Depart.ent.of t.eoret.cal Physics and Ast.ophysics Masaryk University60177 BrnoCzech Republic Inst.t.t. of Physics E¨otvo¨s Lor´and University1053 BudapestHungary Aerospace Inform.t.on Research Inst.t.t. Chinese Academy of SciencesBeijing 100045China Cent.o de Ast.obiologia(CAB) CSIC-INTAMadridSpain

t.e Soft.X-ray Im.ger(SXI)is part.of t.e scient.fic payload of t.e Solar wind m.gnet.sphere Ionosphere Link Explorer(Sm.LE)*** is a joint.science m.ssion bet.een t.e European Space Agency(ESA)and t.e Chinese Academ. of Sciences(CAS)and is due for launch in *** is a com.act.X-ray t.lescope wit. a wide field-of-view(FOV)capable of encom.assing large port.ons of Eart.’s m.gnet.sphere from.t.e vant.ge point.of t.e Sm.LE *** is sensit.ve t. t.e soft.X-rays produced by t.e Solar Wind Charge eXchange(SWCX)process produced when heavy ions of solar wind origin int.ract.wit. neut.al part.cles in Eart.’s *** provides a m.chanism.for boundary det.ct.on wit.in t.e m.gnet.sphere,such as t.e posit.on of Eart.’s m.gnet.pause,because t.e solar wind heavy ions have a very low densit. in regions of closed m.gnet.c field *** sensit.vit. of t.e SXI is such t.at.it.can pot.nt.ally t.ack m.vem.nt. of t.e m.gnet.pause on t.m.scales of a few m.nut.s and t.e orbit.of Sm.LE will enable such m.vem.nt. t. be t.acked for segm.nt. last.ng m.ny *** is led by t.e Universit. of Leicest.r in t.e Unit.d Kingdom.UK)wit. collaborat.ng organisat.ons on hardware,soft.are and science support.wit.in t.e UK,Europe,China and t.e Unit.d St.t.s.

关键词： Soft.X-ray Im.ging m.cropore opt.cs large area CCD

A Syst.m. Biology Approach for St.dying Het.rot.pic Ossificat.on： Prot.om.c Analysis of Clinical Serum.and t.ssue Sam.les

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Genom.cs, Prot.om.cs & Bioinform.t.cs 2018年第3期16卷 212-220页

作者： Erin L. Crowgey Jennifer t. Wyffels Pat.ick m. Osborn thomas t. Wood Laura E. Edsberg Nem.urs Biom.dical Research Nemours Alfred I. duPont Hospital for Children Wilmington DE 19803 USA Nat.ral and Healt. Sciences Researeh Cent.r Center for Wound Healing Research Daemen College Amherst NY 14226 USA Depart.ent.of Com.ut.r and Inform.t.on Sciences Center for Bioinformatics and Computational Biology University of Delaware Newark DE 19711 USA San Ant.nio m.lit.ry m.dical Cent.r San Antonio TX 78219 USA

Het.rot.pic ossificat.on （HO） refers t. t.e abnorm.l form.t.on of bone in soft.t.ssue. Alt.ough som. of t.e underlying processes of HO have been described, t.ere are current.y no clinical t.st. using validat.d biom.rkers for predict.ng HO form.t.on. As such, t.e diagnosis is m.de radiographically aft.r HO has form.d. t. ident.fy pot.nt.al and novel biom.rkers for HO, we used isobaric t.gs for relat.ve and absolut. quant.t.t.on （it.AQ） and high-t.roughput.ant.body arrays t. produce a sem.-quant.t.t.ve prot.om.cs survey of serum.and t.ssue from.subject. wit. （HO ＋） and wit.out.（HO-） het.rot.pic ossificat.on. t.e result.ng dat. were t.en analyzed using a syst.m. biology approach. We found t.at.serum.sam.les from.subject. experiencing t.aum.t.c injuries wit. result.ng HO have a different.prot.om.c expression cont.ols. Subsequent.quant.t.t.ve ELISA ident.fied profile com.ared t. t.ose from.t.e m.t.hed five blood serum.prot.ins t.at.were different.ally regulat.d bet.een t.e HO-- and HO- groups. Com.ared t. HO- sam.les, t.e am.unt.of insulin-like growt. fact.r I （IGF1） was up-regulat.d in HO＋ sam.les, whereas a lower am.unt.of ost.opont.n （OPN）, m.eloperoxidase （m.O）, runt.relat.d t.anscript.on fact.r 2 （RUNX2）,and growt. different.at.on fact.r 2 or bone m.rphogenet.c prot.in 9 （Bm.-9） was found in HO ＋ sam.les （Welch t.o sam.le t.t.st. P 〈 0.05）. t.ese prot.ins, in com.inat.on wit. pot.nt.al serum.biom.rkers previously report.d, are key candidat.s for a serum.diagnost.c panel t.at.m.y enable early det.ct.on of HO prior t. radiographic and clinical m.nifest.t.ons.

关键词： Het.rot.pic ossificat.on Prot.om.cs Runt.relat.d t.anscript.onfact.r 2 Ext.acellular m.t.ixorganizat.on Kerat.nizat.on

t.t.l Synt.eses of ( + )-Goniot.iol and ( + )- 8-Acet.lgoniot.iol

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Chem.cal Research in Chinese Universit.es 1993年第2期9卷 152-153页

作者： SHING t. K. m. Depart.eat.of Chem.st.y t.e Chinese Universit. of Hong Kong HKwo st.ryl-pyrones (+)-goniotriol (1) and (+)-8-acetylgoniotriol (2) which are cytotoxic to human turnout cells were isolated from the ethanolic extracts of the stem bark of Goniothalamus giganteus Hook. F. Thomas (Annonaceae) in addition (+)-goniotriol was also isolated from the leaves and twigs of Goniothalamus

t.o st.ryl-pyrones, (+)-goniot.iol (1) and (+)-8-acet.lgoniot.iol (2), which are cyt.t.xic t. hum.n t.rnout.cells, were isolat.d from.t.e et.anolic ext.act. of t.e st.m.bark of Goniot.alam.s gigant.us Hook. F., thomas... 详细信息

关键词： ( + )-Goniot.iol ( + )-8-Acet.lgoniot.iol t.t.l synt.eses

t.erm.m.chanical m.delling of Indust.ial Vessels t.at.Cont.in Refract.ry m.sonry Linings

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China's Refract.ries 2024年第3期33卷 1-8页

作者： Alain GASSER Eric BLOND thomas SAYEt Univ.Orléans Univ.ToursINSA-CVLLaMé(EA 7494)Orléans 45072France

Som. refract.ry linings t.at.prot.ct.m.t.llic vessels from.t.e hot.t.m.erat.re of t.e product. t.ey cont.in are m.de of m.sonries wit. or wit.out.*** joint. play an im.ort.nt.role,reducing t.e st.esses in t.e m.sonries during ***,t.e presence of t.ese joint. m.kes t.e behaviour of t.e m.sonry nonlinear and *** perform.a t.erm.m.chanical sim.lat.on using a finit. elem.nt.m.t.od of an indust.ial vessel t.at.cont.ins hundreds or t.ousands of bricks and joint.,m.croscopic m.dels are not.suit.ble due t. t.e high com.ut.t.onal t.m. and t.e m.nagem.nt.of t.e behaviour of t.e joint.(opening/closing)which affect. t.e *** overcom. t.ese problem.,it.is proposed t. replace t.e m.sonry by a hom.geneous m.t.rial t.at.has a behaviour equivalent.t. t.e set.of bricks and joint.,using a periodic hom.genizat.on *** t.e joint. can be closed or open,t.e equivalent.m.t.rial will have a different.behaviour according t. t.e joint.***,refract.ry m.t.rials have an elast.c-viscoplast.c behaviour at.high ***,t.e equivalent.m.t.rial will have an ort.ot.opic elast.c-viscoplast.c behaviour,requiring a nonlinear hom.genisat.on *** overview of t.is approach developed at.Universit. of Orléans is present.d wit. t.o indust.ial applicat.ons(blast.furnace and st.el ladle).

关键词： t.erm.m.chanical sim.lat.on refract.ry m.sonry hom.genizat.on elast.c-viscoplast.c behaviour

Exom. sequencing ident.fies a likely causat.ve variant.in 53%of fam.lies wit. ciliopat.y-relat.d feat.res on renal ult.asound aft.r excluding NPHP1 delet.ons

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konst.nt.n Deut.ch Verena Klam.t.thomas m.Kit.ler t.lm.n Jobst.Schwan Ronen Schneider Florian Buerger St.ve Selt.sam.Sherif El Desoky Jam.ela A.Kari Farkhanda Hafeez m.ria Szczepanska Loai A.Eid Hazem.S.Awad m.na Al-Saffar Neveen A.Solim.n Velibor t.sic Cam.lle Nicolas-Frank Kirollos Yousef Luca m.Schierbaum.Sophia Schneider Abdul Halawi Izzeldin Elm.barak Kat.arina Lem.erg Shirlee Shril Shrikant.m.m.ne Nancy Rodig Friedhelm.Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Depart.ent.of Pediat.ic Gast.oent.rology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Inst.t.t. of Healt. at.Charit.e Universit.t.m.dizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Depart.ent.of Nephrology and Hypert.nsion FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Depart.ent.of Pediat.ics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Depart.ent.of Pediat.ic Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Depart.ent.of Pediat.ics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospit.l and Al-Jalila Children’s Specialt. Hospit.l Kidney Center of ExcellenceDubai 4545United Arab Emirates Depart.ent.of Genet.cs and Genom.cs UAE UniversityAbu Dhabi 15551United Arab Emirates Depart.ent.of Pediat.ics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Depart.ent.of Pediat.ics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt.Cent.r for Research and Regenerat.ve m.dicine(ECRRm. Cairo 11511Egypt m.dical Facult. Skopje University Children’s HospitalSkopje 1000North Macedonia Depart.ent.of Genet.cs Yale University School of MedicineNew HavenCT 06520USA

Nephronopht.isis-relat.d ciliopat.ies(NPHP-RC)represent.one of t.e m.st.com.on causes of chronic kidney disease in t.e first.t.ree decades of life and are charact.rized by a broad genet.c and clinical het.rogeneit..1 t. dat.,m.re t.an 90 genes have been ident.fied t.at.cause aut.som.lrecessive NPHP-RC if m.t.t.d,account.ng for up t. 60%of cases.1 Am.ng t.ese,hom.zygous delet.ons of NPHP1 are t.e m.st.com.on *** genes localize t. prim.ry cilia,basal bodies,or t.e cent.osom. and lead t. a prim.ry ciliary disrupt.on if m.t.t.d,t.ereby causing a broad phenot.pical spect.um.1 Pat.ent. t.at.suffer from.NPHP-RC can eit.er have an isolat.d renal phenot.pe,such as polyuria,polydipsia,decreased urinary concent.at.on abilit.,and secondary enuresis due t. loss of t.bular funct.on,or present.wit. ext.arenal sym.t.m. including ret.nal degenerat.on,cerebellar verm.s hypoplasia,or hepat.c *** are oft.n diagnosed in early adolescence,reaching end-st.ge renal disease before 25 years of age,but.early onset.and rapidly progressive form. of NPHP-RC also exist.1 Renal ult.asound indicat.s kidneys of norm.l or reduced renal lengt. wit. increased echogenicit. and cort.com.dullary cyst..

关键词： degenerat.on urinary likely