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Dia.nostic cha.lenges in Sa.la.disea.e

Open Journa. of Genetics 2013年第2期3卷 46-49页

作者： Jessica.N. Ha.tley Micha.l S. Sa.ma. Fra.ces a. Booth Lorne Sea.gea.t david a. wenger Jens Wrogema.n a.zeddin a. Mha.ni Depa.tment of Biochemistry a.d Medica. Genetics University of Manitoba Winnipeg Canada Program of Genetics and Metabolism Winnipeg Canada Depa.tment of Biochemistry a.d Medica. Genetics University of Manitoba Winnipeg Canada Program of Genetics and Metabolism Winnipeg Canada Department of Pediatrics and Child Health University of Manitoba Winnipeg Canada Depa.tment of Pedia.rics a.d Child Hea.th University of Manitoba Winnipeg Canada Diagnostic Services Manitoba University of Manitoba Winnipeg Canada Depa.tment of Pedia.rics a.d Child Hea.th University of Manitoba Winnipeg Canada Section of Pediatric Neurology University of Manitoba Winnipeg Canada Depa.tment of Ra.iology Section of Pediatric Radiology University of Manitoba Winnipeg Canada Lysosoma. Disea.es Testing La.ora.ory Thomas Jefferson University Philadelphia USA

Sia.ic a.id stora.e disea.e (Sa.la.disea.e) is a. a.tosoma. recessive disorder ca.sed by muta.ions in a.lysosoma. sia.ic a.id export protein, SLC17a. (OMIM #604369). This disorder wa. initia.ly described in Northern Finla.d but more recently ha. been reported in pa.ients of other ethnicities. We describe the clinica. presenta.ion a.d the neuroima.ing findings of two non-Finnish children where a.dia.nosis of Sa.la.disea.e wa. suspected on the ba.is of bra.n ma.netic resona.ce ima.ing. The biochemica. confirma.ion of this dia.nosis posed a.cha.lenge a. both pa.ients ha. eleva.ed percent free urine sia.ic a.id but biochemica. a.a.yses in fibrobla.ts were not conclusive;therefore, molecula. testing wa. necessa.y for confirma.ion of the dia.nosis. The described encounters demonstra.e the importa.ce of pursuing confirma.ory molecula. dia.nostic testing when a.sia.ic a.id stora.e disorder is suspected.

关键词： Sia.ic a.id Sa.la Disea.e Lysosoma. SLC17a.

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Kerogen Kinetic Distributions a.d Simula.ions Provide Insights into Petroleum Tra.sforma.ion Fra.tion (TF) Profiles of Orga.ic-Rich Sha.es

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Journa. of Ea.th Science 2024年第3期35卷 747-757页

作者： david a.Wood DWa.Energy Limited Lincoln LN59JPUnited Kingdom

Two hundred a.d fifty single first-order a.rhenius rea.tions a.e simula.ed to genera.e S2 pyrogra.s a. three hea.ing ra.es 25,15,a.d 5°C·*** a.tiva.ion energy(E)a.d pre-exponentia. fa.tor(a.of the rea.tions simula.ed follow a.long-esta.lished trend of those va.ia.le va.ues displa.ed by sha.es a.d *** cha.a.teristics of the tra.sforma.ion fra.tion(TF)profiles(product genera.ion window tempera.ures)of the simula.ed single rea.tions a.e compa.ed to the TF profiles of recorded sha.e pyrogra.s genera.ed by multiple rea.tions with different E-a.va.ues lying nea. the defined E-a.*** simila.ities a.d differences a.e observed between the TF profile va.ues of the two *** simila.ities support the sprea. of E-a.va.ues involved in sha.e pyrogra. best *** differences a.e most likely expla.ned by the complexity of the multiple kerogen first-order a.d second-order rea.tions contributing to the recorded sha.e pyrogra.s versus the simplicity a.d crispness of the single first-order rea.tions *** results a.so justify the va.idity of using the previously described“va.ia.le E-a.pyrogra.-fitting method”of multi-hea.ing-ra.e sha.e pyrogra.s ena.ling optimizers to choose multiple rea.tions from a. unlimited ra.ge of E-a.*** contra.t,further doubt is ca.t on the va.idity of the consta.t-a.pyrogra.-fitting method used by the Ea.y%Ro technique,in tha. a.distribution of rea.tions with a.single a.va.ue is unlikely to represent the complex va.iety of kerogen ma.era.s observed in sha.e *** profiles genera.ed by the va.ia.le E-a.pyrogra.-fitting method lie close to the esta.lished E-a.trend a.d a.e likely to provide more rea.istic TF genera.ion window tempera.ures tha. TF profiles genera.ed by the consta.t-a.pyrogra.-fitting method.

关键词： tra.sforma.ion fra.tion profiles simula.ed S2 pyrogra.s multiple hea.ing ra.es kerogen/sha.e kinetics S2 pyrogra. fitting techniques kerogen petroleum resea.ch.

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La.e Ordovicia. Ma.s Extinction: Ea.th, fire a.d ice

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Na.iona. Science Review 2024年第1期11卷 51-65页

作者： david a.T.Ha.per Pa.a.oecosystems Group Department of Earth SciencesDurham University

The La.e Ordovicia. Ma.s Extinction wa. the ea.liest of the ‘big’ five extinction events a.d the ea.liest to a.fect the tra.ectory of meta.oa. life. Two pha.es ha.e been identified nea. the sta.t of the Hirna.tia. period a.d in the middle. It wa. a.ma.sive ta.onomic extinction, a.wea. phylogenetic extinction a.d a.rela.ively benign ecologica. extinction. a.ra.id cooling, triggering a.ma.or ice a.e tha. reduced the tempera.ure of surfa.e wa.ers, prompted a.drop in sea.level of some 100 m a.d introduced toxic bottom wa.ers onto the shelves. These symptoms of more funda.enta. pla.eta.y processes ha.e been a.socia.ed with a.ra.ge of fa.tors with a. underlying driver identified a. volca.icity. Volca.ic eruptions, a.d other products, ma. ha.e extended ba.k in time to a. lea.t the Sa.dbia. a.d ea.ly Ka.ia., suggesting the extinctions were more protra.ted a.d influentia. tha. hitherto documented.

关键词： Ordovicia. LOME pa.eoecology pa.a.obiogeogra.hy biota.

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One-dimensiona. monotone nona.tonomous dyna.ica. systems

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Science China.Ma.hema.ics 2024年第2期67卷 281-314页

作者： david Cheba. Fa.ulty of Ma.hema.ics a.d Computer Science Laboratory of Fundamental and Applied MathematicsMoldova State UniversityChisinau 2009Moldova

This work is devoted to the study of the dyna.ics of one-dimensiona. monotone nona.tonomous(cocycle) dyna.ica. systems. a.description of the structures of their inva.ia.t sets, omega.limit sets,Bohr/Levita. a.most periodic a.d a.most a.tomorphic motions, globa. a.tra.tors, a.d pinched a.d minima.sets is given. a. a.plica.ion of our genera. results is given to sca.a. differentia. a.d difference equa.ions.

关键词： one-dimensiona. dyna.ics pinched a.d minima. sets globa. a.tra.tors monotone nona.tonomous cocycle a.most periodic solutions sca.a. differentia./difference equa.ions

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Sex Determina.ion in Homo sa.iens a. a.Multi-Step Process: Potentia. for Development of Va.ia.ts a.d Sex Differences in Disea.e Risk

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Journa. of Biomedica. Science a.d Engineering 2024年第1期17卷 13-34页

作者： david a. Ha.t Depa.tment of Surgery Faculty of Kinesiology McCaig Institute for Bone & Joint Health University of Calgary Cal-gary Canada

Reproduction via.cis-bina.y mecha.isms a.pea.s to ha.e evolved fa.rly ea.ly in the evolution of complex orga.isms, a.d a.system committed to prior to evolution of huma.s. While the evolution of a.chromosoma.-specific a.proa.h ha. been a.successful stra.egy for surviva. of a.la.ge va.iety of species including huma.s, the fidelity of sex determina.ion lea.ing to 100% cis-bina.y outcomes is not a.hieved in ma.y species, with evidence for homosexua. or bisexua. beha.iour evident in more tha. 1500 species. Thus, such outcomes indica.es tha. sex determina.ion is a.multi-step process a.d not a.single event, a.d a. such, could lea. to the a.pea.a.ce of va.ia.ts during the process which developed much ea.lier tha. huma.s. Va.ia.ts could a.ise either due to intrinsic va.ia.ion in the steps of determina.ion, or a.so be influenced by environmenta. fa.tors of a.biologica. or psychologica. na.ure. In contra.t to homosexua. va.ia.ts which do not require interventions such a. hormone thera.y or surgery, expression of gender dysphoria. is more ba.ed in psychology, but a.so ha. biologica. underpinnings a.d ca. be influenced by such hormona. interventions a.d surgery. While the numbers of those with gender dysphoria.is sma.l (~0.6% - 1.0% of popula.ion), the a.tention given to this issue ra.ses the possibility of biologica. a.d psychologica. environmenta. fa.tors impa.ting the emergence of some of those expressing gender dysphoria. Furthermore, tra.sitioning from ma.e-to-fema.e or fema.e-to-ma.e ca. ha.e consequences rega.ding disea.e risks la.ter in life, including the a.pea.a.ce of a.toimmune disea.es. This review will a.tempt to review some of the evidence rega.ding sex determina.ion, discuss why the system ha. potentia.ly not been improved upon during evolution, how a.potentia. role for sex chromosome function on neurodevelopment ma. be centra. to va.ia.ion in huma.s, a.d how commitment to the current stra.egy is likely integra.ed into other sex-rela.ed events such a. puberty, pre

关键词： Sex Determina.ion Va.ia.t Development Fidelity of Sex Determina.ion Biologica. Sex Determina.ion Species Va.ia.ion

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a.a.ysis of a.cient ma.s extinction recoveries in ma.ine environments: genera.ing stra.egies for ma.a.ing outcomes of the current ma.s extinction

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Na.iona. Science Review 2024年第1期11卷 8-10页

作者： david J.Bottjer Depa.tment of Ea.th Sciences University of Southern California

The defining fea.ure of a.ma.s extinction a.d its a.socia.ed recovery is the globa. a.ount of extinction tha. occurred[1]. However, there is finer-sca.e deta.l to the story, a. seen in the ongoing modern ma.s extinction(the sixth ma.s extinction), which exhibits va.ia.le effects a.ong ma.ine ecosystems a.d environments, a.d hence geogra.hic a.ea. [1].

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Current sta.e-of-the-a.t review of footwea.–ground friction

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Friction 2024年第10期12卷 2188-2204页

作者： david REBENDa.Tomáš SÁHA Footwea. Resea.ch Centre University InstituteTomas Bata University in ZlinZlin 76001Czech Republic Fa.ulty of Mecha.ica. Engineering Brno University of TechnologyBron 61600Czech Republic

The most importa.t role of footwea. is to ensure sa.e,functiona. wa.king,a.d foot *** the proper functiona.ity of not only the work shoes,the a.ti-slip beha.ior of the shoe under va.ious conditions a.d environments pla.s a. importa.t role in the prevention of slips,trips,fa.ls,a.d consequent *** a.ticle is intended to review the current understa.ding of the frictiona. mecha.isms between shoe outsoles a.d va.ious counterfa.es tha. impa.t the eva.ua.ion of outsole *** resea.ch focuses on the mecha.isms driving outsole friction on different ground surfa.es or the definition a.d description of pa.a.eters tha. influence outsole ***,the review discusses the effect of va.ious surfa.e conta.ina.ts on footwea. ***,cha.lenges a.d outlooks in the field of footwea. outsoles a.e briefly mentioned.

关键词： shoe outsole composite slipperiness coefficient of friction(COF) a.hesion sa.e wa.k

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Ga.troesopha.ea. reflux following perora. endoscopic myotomy for a.ha.a.ia.Bumps in the roa. to success

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World Journa. of Ga.troenterology 2024年第29期30卷 3461-3464页

作者： david Itskoviz Stephen david Howa.d Ma.nick Ka.la. Medica. Center Institute of Gastroenterology and HepatologyHebrew University Medical School of JerusalemRehovot 76100Israel Ka.la. Medica. Center Department of Internal Medicine CHebrew University Medical School of JerusalemRehovot 76100Israel

a.ha.a.ia.ca. significa.tly impa.r the qua.ity of *** clinica. presenta.ion typica.ly includes dyspha.ia.to both solids a.d liquids,chest pa.n,a.d *** ca. be dela.ed in pa.ients with a.ypica. presenta.ions,a.d they might receive a.wrong dia.nosis,such a. ga.troesopha.ea. reflux disea.e(GERD),owing to overla.ping symptoms of both *** the ca.se of a.ha.a.ia.is poorly understood,its impa.t on the motility of the esopha.us a.d ga.troesopha.ea. junction is well *** trea.ment moda.ities ha.e been utilized,with the most common being surgica. Heller myotomy with concomita.t fundoplica.ion a.d pneuma.ic ba.loon ***,perora. endoscopic myotomy(POEM)ha. ga.ned popula.ity a. a. effective trea.ment for a.ha.a.ia.despite a.rela.ively high incidence of GERD occurring a.ter trea.ment compa.ed to other *** ma.nitude of post-POEM GERD depends on its definition a.d is influenced by pa.ient a.d procedure-rela.ed *** longterm sequela. of post-POEM GERD a.e yet to be determined,but it a.pea.s to ha.e a.benign course a.d is usua.ly ma.a.ea.le with clinica.ly a.a.la.le *** risk fa.tors for post-POEM GERD a.d modifying the POEM procedure in selected pa.ients ma. improve the overa.l success of this technique.

关键词： a.ha.a.ia Per-ora. endoscopic myotomy Ga.troesopha.ea. reflux Pneuma.ic dila.a.ion Heller myotomy Proton pump inhibitor a.idic fermenta.ion

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Discovery of strong bulk Dzya.oshinskii-Moriya.intera.tion in composition-uniform centrosymmetric ma.netic single la.ers

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Science China.Physics,Mecha.ics & a.tronomy) 2024年第2期67卷 174-180页

作者： Lijun Zhu david Luja. Xia.qin Li Sta.e Key La.ora.ory of Superla.tices a.d Microstructures Institute of SemiconductorsChinese Academy of SciencesBeijing 100083China College of Ma.eria.s Science a.d Opto-Electronic Technology University of Chinese Academy of SciencesBeijing 100049China Depa.tment of Physics Center for Complex Quantum SystemsUniversity of Texas at AustinAustin 78712USA

Dzya.oshinskii-Moriya.intera.tion(DMI)is the key ingredient of chira. spintronic phenomena.a.d the emerging technologies ba.ed on such phenomena.a.nonzero DMI usua.ly occurs a. ma.netic interfa.es or within non-centrosymmetric single ***,we report the observa.ion of a.strong unexpected DMI within a.centrosymmetric polycrysta.line ferroma.net tha. ha. neither a.crysta. inversion symmetry brea.ing nor a.composition *** DMI is a.bulk effect,increa.es with the thickness of the ma.netic la.er,a.d is insensitive to the symmetry of the interfa.es or the neighboring *** observe a.tota. DMI strength tha. is a.fa.tor of>2 grea.er tha. the highest interfa.ia. DMI in the *** DMI most likely a.ises from the strong spin-orbit coupling,strong orbita. hybriza.ion,a.d a.hidden”long-ra.ge a.ymmetry in the *** discovery of the strong unconventiona. bulk DMI in centrosymmetric,composition-uniform ma.netic single la.ers provides funda.enta. building blocks for the emerging field of spintronics a.d will stimula.e the exploita.ion of unconventiona. spin-orbit phenomena.in a.wide ra.ge of ma.eria.s.

关键词： Brillouin light sca.tering Dzya.oshinskii-Moriya.intera.tion spin wa.e

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Eva.ua.ion of ha.d infections in the emergency depa.tment using point-of-ca.e ultra.ound

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World Journa. of Emergency Medicine 2024年第4期15卷 283-288页

作者： david a.ma. Ha.da. david Mintz Bra.don M Wubben Oma. Rizvi Srika. a.hika.i Depa.tment of Emergency Medicine Michigan MedicineAnn Arbor 48109-1382USA University of a.izona.College of Medicine Tucson 85724USA Depa.tment of Emergency Medicine University of IowaIowa City 52242-1009USA Depa.tment of Surgery University of Arizona College of MedicineTucson 85724USA Depa.tment of Emergency Medicine University of Arizona College of MedicineTucson 85724USA

Ba.KGROUND:We a.med to eva.ua.e the utility of point-of-ca.e ultra.ound(POCUS)in the a.sessment of ha.d infections tha. present to the emergency depa.tment(ED)a.d its impa.t on medica. decision ma.ing a.d pa.ient ***:We conducted a.retrospective review of pa.ients who presented to two urba. a.a.emic EDs with clinica. presenta.ions concerning for skin a.d soft tissue infections(SSTI)of the ha.d between December 2015 a.d December *** tra.ned POCUS fellowship physicia.s reviewed a. ED POCUS da.a.a.e for POCUS exa.ina.ions of the *** then reviewed pa.ients’electronic hea.th records(EHR)for demogra.hic cha.a.teristics,history,physica. exa.ina.ion findings,ED course,a.ditiona. ima.ing studies,consulta.ions,impa.t of POCUS on pa.ient ca.e a.d fina. ***:We included a.tota. of 50 ca.es(28 ma.e,22 fema.e)in the fina. *** most common presenting symptoms a.d exa. findings were pa.n(100%),swelling(90%),a.d erythema.74%).The most common sonogra.hic findings were edema.76%),soft tissue swelling(78%),a.d fluid surrounding the tendon(57%).POCUS wa. used in medica. decision ma.ing 68%of the time(n=34),with the use of POCUS lea.ing to cha.ges in ma.a.ement 38%of the time(n=19).POCUS use led to ea.ly a.tibiotic use(11/19),ea.ly consulta.ion(10/19),a.d led to the performa.ce of a.required procedure(8/19).The POCUS dia.nosis wa. consistent with the discha.ge dia.nosis of flexor tenosynovitis 8/12 times,a.scess 12/16 times,a.d cellulitis 14/20 ***:POCUS is beneficia. for eva.ua.ing of ha.d infections tha. present to the ED a.d ca. be used a. a. importa.t pa.t of medica. decision ma.ing to expedite pa.ient ca.e.

关键词： Ultra.ound Point-of-ca.e ultra.ound Cellulitis a.scess Flexor tenosynovitis

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