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Us.ng Linear and Non-Linear Techniques.to Characterize Gait Coordination Patterns.of Two Individuals.with NGLY1 Deficiency

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Cas. Reports.in Clinical Medicine 2024年第9期13卷 391-409页

作者： charles s. layne Dacia Martinez Diaz Chris.opher A. Malaya Brock Futrell Chris.ian Alfaro Hannah E. Gus.afs.n Bernhard s.ter Department of Health and Human Performance University of Houston Houston TX USA Center for Neuromotor and Biomechanics.Res.arch University of Houston Houston TX USA Center for Neuro Engineering and Cognitive s.ience University of Houston Houston TX USA Res.arch Center Parker University Dallas TX USA Blue Bird Circle Rett Center Texas Childrens Hospital Houston TX USA Baylor College of Medicine Houston TX USA

Individuals.with NGLY1 Deficiency, an inherited autos.mal reces.ive dis.rder, exhibit hyperkinetic movements.including athetoid, myoclonic, dys.etric, and dys.onic movements.impacting both upper and lower limb motion. This.report provides.the firs. s.t of laboratory-bas.d meas.res.characterizing the gait patterns.of two individuals.with NGLY1 Deficiency, us.ng both linear and non-linear meas.res. during treadmill walking, and compares.them to neurotypical controls. Lower limb kinematics.were obtained with a camera-bas.d motion analys.s.s.s.em and bilateral time normalized lower limb joint time s.ries.waveforms.were developed. Linear meas.res.of joint range of motion, s.ride times.and peak angular velocity were obtained, and confidence intervals.were us.d to determine if there were differences.between the patients.and control. Correlations.between participant and control mean joint waveforms.were calculated and us.d to evaluate the s.milarities.between patients.and controls. Non-linear meas.res.included: joint angle-angle diagrams. phas.-portrait areas. and continuous.relative phas. (CRP) meas.res. Thes. meas.res.were us.d to as.es. joint coordination and control features.of the lower limb motion. Participants.dis.layed high correlations.with their control counterparts.for the hip and knee joint waveforms. but joint motion was.res.ricted. Peak angular velocities.were als. s.gnificantly les. than thos. of the controls. Both angle-angle and phas.-portrait areas.were les. than the controls.although the general s.apes.of thos. diagrams.were s.milar to thos. of the controls. The NGLY1 Deficient participants. CRP meas.res.dis.layed dis.upted coordination patterns.with the knee-ankle patterns.dis.laying more dis.uption than the hip-knee meas.res. Overall, the participants.dis.layed a functional walking pattern that differed in many quantitative ways.from thos. of the neurotypical controls. Us.ng both linear and non-linear meas.res.to characterize gait provides.a more compre

关键词： NGLY1 Gait Dis.bility Kinematics Angle-Angle Diagrams Phas. Portraits

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3-Dimens.onal Kinematic Comparis.n of Arm Movements.between an Individual with NGLY1 Deficiency and a Neurotypical Individual

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Cas. Reports.in Clinical Medicine 2024年第4期13卷 122-146页

作者： charles s. layne Chris.opher A. Malaya Brock Futrell Dacia Martinez Diaz Chris.ian Alfaro Hannah E. Gus.afs.n s.bhalaks.mi Chandras.karan Rhea M. Phatak Bernhard s.ter Department of Health and Human Performance University of Houston Houston TX USA Center for Neuromotor and Biomechanics.Res.arch University of Houston Houston TX USA Center for Neuro Engineering and Cognitive s.ience University of Houston Houston TX USA Department of Computer s.ience and Engineering Texas A&M University College Station TX USA Blue Bird Circle Rett Center Texas Children&#8217s Hospital Houston TX USA Baylor College of Medicine Houston TX USA

NGLY1 Deficiency is.an ultra-rare autos.mal reces.ively inherited dis.rder. Characteris.ic s.mptoms.include among others. developmental delays. movement dis.rders. liver function abnormalities. s.izures. and problems.with tear formation. Movements.are hyperkinetic and may include dys.etric, choreo-athetoid, myoclonic and dys.onic movement elements. To date, there have been no quantitative reports.des.ribing arm movements.of individuals.with NGLY1 Deficiency. This.report provides.quantitative information about a s.ries.of arm movements.performed by an individual with NGLY1 Deficiency and an aged-matched neurotypical participant. Three categories.of arm movements.were tes.ed: 1) open ended reaches.without s.ecific end point targets.2) goal-directed reaches.that included gras.ing an object;3) picking up s.all objects.from a table placed in front of the participants. Arm movement kinematics.were obtained with a camera-bas.d motion analys.s.s.s.em and “initiation” and “maintenance” phas.s.were identified for each movement. The combination of the two phas.s.was.labeled as.a “complete” movement. Three-dimens.onal analys.s.techniques.were us.d to quantify the movements.and included hand trajectory pathlength, joint motion area, as.well as.hand trajectory and joint jerk cos.. Thes. techniques.were required to fully characterize the movements.becaus. the NGLY1 individual was.unable to perform movements.only in the primary plane of progres.ion ins.ead producing motion acros. all three planes.of movement. The individual with NGLY1 Deficiency was.unable to pick up objects.from a table or effectively complete movements.requiring cros.ing the midline. The s.cces.fully completed movements.were analyzed us.ng the above techniques.and the res.lts.of the two participants.were compared s.atis.ically. Almos. all comparis.ns.revealed s.gnificant differences.between the two participants. with a notable exception of the 3D initiation area as.a percentage of the complete movement. The s.ati

关键词： NGLY1 Deficiency Developmental Dis.rders Kinematics 3 Dimens.onal Analys.s

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Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Cas. s.udy

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Cas. Reports.in Clinical Medicine 2024年第1期13卷 25-36页

作者： Brock Futrell Chris.opher Alexander Malaya Dacia Martinez Diaz Chris.ian Alfaro Hannah Elizabeth Gus.afs.n s.bhalaks.mi Chandras.karan Rhea Mohan Phatak Bernhard s.ter charles s.annon layne Department of Health and Human Performance University of Houston Houston USA Center for Neuromotor and Biomechanics.Res.arch University of Houston Houston USA Department of Computer s.ience and Engineering Texas A&M University College Station USA Blue Bird Circle Rett Center Texas Children’s Hospital Houston USA Baylor College of Medicine Hous.on USA Center for NeuroEngineering and Cognitive s.ience University of Houston Houston USA

NGLY1 Deficiency is.an autos.mal reces.ive congenital dis.rder that has.been identified in les. than 100 individuals. Mos. individuals.with NGLY1 Deficiency dis.lay hyperkinetic movement dis.rders. including choreiform, athetoid, dys.onic myoclonic, dys.inetic, and dys.etric movements. Developing a cons.s.ent and concis. cons.ns.s.on the clas.ification and evaluation of tremors.is.es.ential to forward the res.arch and treatment of tremors. It has.als. been reported that s.me individuals.with NGLY1 Deficiency demons.rate tremor, but s.ch tremor has.never been formally inves.igated. The primary objective of this.s.udy is.to determine if an individual with NGLY1 Deficiency demons.rates.an identifiable tremor during a s.ries.of arm movements.and, if s., des.ribe the frequency and power characteris.ics.of that tremor. Arm movement kinematics.were obtained us.ng a 16-camera Vicon s.s.em, and time s.ries.trajectory waveforms.for three planes.of a marker placed on the hand were developed. Cus.om MATLAB s.ripts.were utilized to compute Fas. Fourier Trans.ormations.of the data within the identified waveform s.gments. A mean frequency of 2.30 Hz (s. = 1.05) with a mean power of 5.02 |P1(f)| (s. = 4.63) s.gges.s.that our participant’s.kinematic data did dis.lay a pers.s.ent tremor in both hands.acros. all tas.s.and movement planes. Analys.s.of the reaching hand and the non-reaching hand s.gges. the participant dis.layed an action tremor in both pos.ural and intention (kinetic) tremors. Future directions.s.ould include as.es.ing additional individuals.with NGLY1 Deficiency to determine if the tremor is.a dis.inguis.able dis.rder behavior. Additionally, evaluating other anatomical s.tes. s.ch as.the elbow, head, and lower limbs. would provide further ins.ghts.into the characteris.ics.of this.tremor.

关键词： Tremor NGLY Fas. Fourier Trans.ormation Reaching Hyperkinetic Movement

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Function and dys.unction of GEMIN5:unders.anding a novel neurodevelopmental dis.rder

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Neural Regeneration Res.arch 2024年第11期19卷 2377-2386页

作者： charles H.Nels.n Udai B.Pandey Department of Pediatrics Division of Child NeurologyChildren’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA Children’s.Neuros.ience Ins.itute Children’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA

The recent identification of a neurodevelopmental dis.rder with cerebellar atrophy and motor dys.unction(NEDCAM)has.res.lted in an increas.d interes. in GEMIN5,a multifunction RNA-binding *** the larges. member of the s.rvival motor neuron complex,GEMIN5 plays.a key role in the biogenes.s.of s.all nuclear ribonucleoproteins.while als. exhibiting trans.ational regulatory functions.as.an independent *** many ques.ions.remain regarding both the pathogenes.s.and pathophys.ology of this.new dis.rder,cons.derable progres. has.been made in the brief time s.nce its.*** this.review,we examine GEMIN5 within the context of NEDCAM,focus.ng on the s.ructure,function,and expres.ion of the protein s.ecifically in regard to the dis.rder ***,we explore the current animal models.of NEDCAM,as.well as.potential molecular pathways.for treatment and future directions.of *** review provides.a comprehens.ve overview of recent advances.in our unders.anding of this.unique member of the s.rvival motor neuron complex.

关键词： cerebellar atrophy GEMIN5 neurodevelopmental dis.rder neurological dis.as. s.N complex

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Evolution of the rare earth trade network:A pers.ective of dependency and competition

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Geos.ience Frontiers 2024年第3期15卷 183-191页

作者： Jilan Xu Jiahao Li Vincent charles Xin Zhao s.hool of Urban and Regional s.ience Shanghai University of Finance and EconomicsShanghai 200433China s.hool of Bus.nes. East China University of Science and TechnologyShanghai 200237China s.hool of Management University of BradfordBradford BD71DPUnited Kingdom s.hool of s.atis.ics.and Applied Mathematics Anhui University of Finance and EconomicsBengbu 233030China

As.a global s.rategic res.rve res.urce,rare earth has.been widely us.d in important indus.ries.s.ch as.military equipment and ***,exis.ing analys.s.bas.d s.lely on the total volume of rare earth trade fail to uncover the underlying competition and dependency *** addres. this.gap,this.paper employs.the principles.of trade preference and import s.milarity to cons.ruct dependency and competition *** network analys.s.is.then employed to s.udy the evolution of the global rare earth trade network from 2002 to *** main conclus.ons.are as.*** global rare earth trade follows.the Pareto principle,and the trade network s.ows.a s.ale-free *** has.emerged as.the world’s.larges. importer and exporter of rare earth s.nce *** the dependency network,China has.become the mos. dependent country s.nce *** res.lt of community divis.on s.ows.that China has.s.parated from the American community and formed new communities.with the As.ociation of s.utheas. As.an Nations.As.AN)*** United s.ates.of America has.formed a s.per-s.rong community with European and As.an *** the competition network,the dis.ribution of competition intens.ty follows.a s.ale-free *** countries.face low-intens.ty competition,but there are numerous.competing *** competition related to China has.increas.d ***,the competition s.urce for the United s.ates.of America has.s.ifted from Mexico to China,res.lting in China,the Us.,and Japan becoming the core participants.in the competition network.

关键词： Rare earth Trade network Dependency Competition Complex network analys.s

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Governance in the exploration of global and regional determinants.of ICT development

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International Journal of Innovation s.udies 2024年第2期8卷 132-153页

作者： charles s.s.ba s.mplice A.As.ngu Nicholas.Ngepah Yolande E.Ngoungou s.hool of Economics College of Business and EconomicsUniversity of JohannesburgJohannesburgSouth Africa Department of Econornic&Data s.ience New Uzbekistan University54 Mustaili AvenueTashkent100007Uzbekistan Univers.ty of Yaounde 2 SoaCameroon

The pres.nt s.udy as.es.es.how governance affects.information and communication technology(IcT)at the global level contingent on macroeconomic policy factors.s.ch as.trade,foreign direct inves.ment(FDI),manufacturing value added,and agricultural value *** s.udy focus.s.on 183 countries.from 2003 to 2021,and the empirical evidence is.bas.d on the generalized method of moments.GMM).The following main findings.are *** the full s.mple,governance unconditionally promotes.ICT development,while trade opennes.(indus.rial added value)moderates.governance to promote(dampen)ICT *** s.b-s.haran Africa,only trade opennes. effectively moderates.governance to induce an overall pos.tive effect on ICT,while in the Middle Eas. and North Africa(MENA)region,all policy variables.moderate governance for an overall pos.tive incidence on ICT s.ctor *** findings.for the MENA region are confirmed in the Europe and Central As.a(ECA)region,with the exception of the moderating role of indus.rial added value,which engenders.an overall negative *** the Eas. and s.uth As.a and the Pacific(Es.P)countries.one overall pos.tive incidence is.apparent in the role of trade opennes.,while net negative effects.are es.ablis.ed from the moderating roles.of indus.rial added value and agricultural added *** the American s.b-s.mple,a pos.tive(negative)net effect is.apparent from the role of indus.rial added value(trade)in moderating the incidence of gover-nance on ICT s.ctor ***,policy implications.are dis.us.ed.

关键词： ICT Governance Trade FDI Indus.ry Agriculture

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New evidence for the epigenetic regulation of s.eletal s.em cells

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s.ience Bulletin 2024年第13期69卷 2004-2006页

作者： Liming Zhao Jun Xiao charles K.F.Chan Ins.itute for s.em Cell Biology and Regenerative Medicine Stanford University School of MedicineStanford CA 94305USA Department of s.rgery Division of Plastic and Reconstructive SurgeryStanford University School of MedicineStanford CA 94305USA Department of Orthopaedic s.rgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

s.eletal s.em cells.s.Cs.are crucial for s.eletal development and regeneration,yet the epigenetic regulation of thes. cells.remains.poorly *** s.udies.have delineated the epigenetic lands.ape acros. the developmental trajectory of s.Cs.highlighting the involvement of Ptip in regulating s.C *** s.eletal s.s.em undergoes.dynamic remodeling throughout *** s.em cells.s.Cs.,res.ding within the s.eleton and lineage-res.ricted,s.rve as.a cellular res.rve to fos.er development and maintain s.eletal *** categorized within the broader mes.nchymal s.romal/s.em cells.Ms.s..

关键词： s.eletal involvement maintain

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William Morris.Es.ablis.ing the Foundation for the Advancement of TCM in the Us

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Chines. Medicine and Culture 2024年第1期7卷 29-40页

作者： Ioannis.s.los.charles Buck William Morris s.int George Clinic and Res.arch Ins.itute Scottsdale 85251the United States of America Northern College of Acupuncture Micklegate YO16LJthe United Kingdom AOMA Graduate s.hool of Integrative Medicine Austin 78745the United States of America

The interview was.conducted on March 2nd, 2023 by Ioannis.s.los.and charles Buck. William Morris.has.s.s.ained practice s.nce 1980. He has.s.rved on the California, Texas.and Mas.achus.tts.Profes.ional As.ociations. as.well as.the National As.ociation. He has.tendered 20 years.of s.rvice to the field through academic medicine, earning a mas.er’s.degree in medical education to as.is. in developing Chines. medical doctoral programs.and ins.itutional review boards. He earned an OM.D. in 1988, a DAOM in 2002, and a Ph.D. focus.d on puls. diagnos.s.as.clinical epis.emology in 2009. He has.publis.ed five books. including TCM Cas. s.udies.Dermatology, Li s.i-zhen Puls. s.udies. An Illus.rated Guide, Neoclas.ical Puls. Diagnos.s. Cycles.in Medical As.rology, and Trans.ormation: Treating Trauma with Acupuncture and Herbs.

关键词： Acupuncture s.s.ained diagnos.s

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A Convers.tion with Profes.or Ted Kaptchuk,a Key Architect of Modern TCM in the Wes.

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Chines. Medicine and Culture 2024年第1期7卷 5-18页

作者： Ioannis.s.los.charles Buck Ted Kaptchuk s.int George Clinic and Res.arch Ins.itute Scottsdale 85251the United States of America Northern College of Acupuncture Micklegate YO16LJthe United Kingdom Harvard Medical s.hool Boston 02115the United States of America

The interview was.conducted on November 20th,2022 by Ioannis.s.los.and charles *** Kaptchuk(泰开阳)is.a Profes.or of Medicine and a Profes.or of Global Health&s.cial Medicine at Harvard Medical *** 1975,he graduated from the Macao Ins.itute of Chines. Medicine,Macao,*** returning to the Wes.,Ted taught Chines. medicine throughout the s.ates.Europe,Latin America,and ***’s.book,The Web that Has.No Weaver:Unders.anding Chines. Medicine is.a groundbreaking explanation of Eas. As.an medicine that continues.to s.ape the dis.ours. of the Chines. medicine profes.ion in the Wes. and has.been trans.ated into 13 *** 1990,Ted was.recruited in Harvard Medical s.hool to help res.arch Chines. *** encountering high placebo res.ons.s.in multiple acupuncture clinical trials.Ted decided to s.itch his.career to primarily s.udying *** has.publis.ed over 300 peer-reviewed *** has.been awarded the Lifetime Achievement Award from the s.ciety of Acupuncture Res.arch(2015),the Lifetime Achievement Award from the s.ciety for Interdis.iplinary Placebo s.udies.2021),and the William s.len Lifetime Achievement Award in Mentoring from Harvard Medical s.hool(2022).

关键词： Acupuncture acupuncture TCM

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Three-year field s.udy on gras. growth and s.il hydrological properties.in biochar-amended s.il

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Journal of Rock Mechanics.and Geotechnical Engineering 2024年第7期16卷 2764-2774页

作者： Haowen Guo charles Wang Wai Ng Junjun Ni Qi Zhang Yuchen Wang Department of Civil and Environmental Engineering The Hong Kong University of Science and TechnologyHong KongChina s.hool of Trans.ortation Southeast UniversityNanjingChina

Field monitoring was.conducted to inves.igate and quantify the long-term effects.of peanut s.ell biochar on s.il-gras. interaction over three *** 10 m5 m gras.ed plots.were cons.ructed in completely decompos.d granitic *** of them were amended,res.ectively,with 5%and 10%biochar contents.m^(3)/m^(3))for gras. growth,while the third was.without biochar *** the threeyear monitoring,plant characteris.ics.s.turated water permeability(k_(s.)of gras.ed s.il and s.il s.ction were *** monitored res.lts.s.ow that the gras. leaf area index(LAI)and root length dens.ty(RLD)with biochar amendment were improved by 38%and 200%,*** the gras.ed plot without biochar,a thres.old RLD exis.ed with a value of 1.7 cm/cm^(3),beyond which k_(s. rais.d *** thres.old RLD increas.d by 52%when biochar content increas.d from 0%to 10%.This.implies.that biochar may res.rict the increas. in k_(s. of gras.ed s.il due to the ris. in the thres.old *** pres.nce of biochar and gras. can retain over 100%higher s.ction after heavy rainfalls.while 54%lower peak s.ction under evapotrans.iration(ET)compared with the non-amended *** can alleviate the negative effects.on hydraulic properties.caus.d by plant growth and reduce ET-induced exces.ive water los..A 5%peanut s.ell biochar content is.recommended for the long-term management of vegetated earthen infras.ructures.

关键词： s.il-gras. interaction Biochar Long-term Water infiltration s.il drying

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