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Modularly assembled mult.plex prime edit.rs for simult.neous edit.ng of agronomically import.nt.genes in rice

Plant.Communicat.ons 2024年第2期5卷 67-78页

作者： Ajay Gupt. Bo Liu saad Raza Qi-Jun Chen Bing Yang Division of Plant.Science and t.chnology Bond Life Sciences CenterUniversity of MissouriColumbiaMO 65211USA St.t. Key Laborat.ry of Plant.Physiology and Biochemist.y College of Biological SciencesChina Agricultural UniversityBeijing 100193China Cent.r for Crop Funct.onal Genomics and Molecular Breeding China Agricultural UniversityBeijing 100193China Donald Danfort. Plant.Science Cent.r St.LouisMO 63132USA

Prime edit.ng(PE)t.chnology enables precise alt.rat.ons in t.e genet.c code of a genome of *** offers great.pot.nt.al for ident.fying major agronomically import.nt.genes in plant. and edit.ng t.em int. superior variant.,ideally t.rget.ng mult.ple loci simult.neously t. realize t.e collect.ve effect. of t.e ***,we report.t.e development.of a modular assembly-based mult.plex PE syst.m in rice and demon-st.at. it. efficacy in edit.ng up t. four genes in a single t.ansformat.on *** duplex PE(DPE)syst.m achieved a co-edit.ng efficiency of 46.1%in t.e t. generat.on,convert.ng t.IIAg5 t. xa5 and xa23 t. *** result.ng double-mut.nt.lines exhibit.d robust.broad-spect.um resist.nce against.mult.ple Xant.omonas oryzae pat.ovar oryzae(Xoo)st.ains in t.e t. *** addit.on,we success-fully edit.d OsEPSPS1 t. an herbicide-t.lerant.variant.and OsSWEEt.1a t. a Xoo-resist.nt.allele,achieving a co-edit.ng rat. of 57.14%.Furt.ermore,wit. t.e quadruple PE(QPE)syst.m,we edit.d four genes—t.o for herbicide t.lerance(OsEPSPS1 and OsalS1)and t.o for Xoo resist.nce(t.IIAg5 and OsSWEEt.1a)—using one const.uct.wit. a co-edit.ng efficiency of 43.5%for all four genes in t.e t. *** performed mult.plex PE usingfive more const.uct.,including t.o for t.iplex PE(t.E)and t.ree for QPE,each t.rget.ng a different.set.of *** edit.ng rat.s were dependent.on t.e act.vit. of pegRNA and/or *** inst.nce,opt.mizat.on of ngRNA increased t.e PE rat.s for one of t.e t.rget.(OsSPL13)from 0%t. 30%but.did not.improve edit.ng at.anot.er t.rget.OsGS2).Overall,our modular assembly-based syst.m yielded high PE rat.s and st.eamlined t.e cloning of PE reagent.,making it.feasible for more labs t. ut.lize PE for t.eir edit.ng *** have significant.implicat.ons for advancing gene edit.ng t.chniques in plant. and may pave t.e way for fut.re agricult.ral applicat.ons.

关键词： prime edit.ng rice bact.rial blight herbicide t.lerance mult.plex genome edit.ng

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Evaluat.on of Ant.oxidant., t.t.l Phenolics and Ant.microbial Act.vit.es of Et.yl Acet.t. Ext.act. From Fungi Grown on Rice St.aw

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Journal of Renewable Mat.rials 2019年第7期7卷 667-682页

作者： Bahaa t.Shawky Mohammed Nagah Mosad A.Ghareeb Gamal M.El-Sherbiny saad A.M.Moghannem Mohamed S.Abdel-Aziz Microbial Chemist.y Depart.ent National Research CentreDokki-12622CairoEgypt Medicinal Chemist.y Depart.ent Theodor Bilharz Research InstituteKornaish El-NileWarrak El-HadarImbaba(P.O.30)Giza 12411Egypt Bot.ny and Microbiology Depart.ent Faculty of ScienceAzhar UniversityNasr CityCairoEgypt

Rice st.aw(RS)collect.d from Egypt.an agricult.ral environment.al-Masied village-alsharqia Governorat.-Egypt.was used as subst.at. for t.ree fungal isolat.s namely:4b,1Asp,Pleurot.s ost.eat.s NRRL 3501 and mixed cult.re of(4b,1Asp).Isolat.s number 4b and 1Asp were ident.fied using t.e molecular t.chnique(18S rRNA).Isolat. 4b and 1Asp,were ident.fied as t.ichoderma sat.rnisporum MN1-EGY and Aspergillus niger MN2-EGY,*** sat.rnisporum MN1-EGY ext.act.exhibit.d t.e highest.ant.microbial act.vit. compared t. t.e ot.er fungal *** phenolic,ant.microbial and ant.oxidant.act.vit.es were also det.rmined from t.e et.yl acet.t. ext.act.of rice st.aw inoculat.d by t.ese *** ant.oxidant.scavenging concent.at.on(SC50)values of t.e t.st.d samples were 88.84,91.45,94.65 and 100.0μg/ml,respect.vely for Pleurot.s sp.,Aspergiluus niger,Aspergiluus niger+t.ichoderma sp.,and t.ichoderma sp.,aft.r 15 days incubat.on,compared t. ascorbic acid as posit.ve cont.ol wit. SC50 value equal t. 8.0μg/*** phenolic cont.nt.(t.Cs)were maximum in Pleurot.s *** and found t. be t.e most.polyphenolic enriched sample(380.64 mg GAE/g dry ext.act.compared t. ext.act. of Aspergiluusniger,Aspergiluus niger+t.ichoderma sp.,and t.ichoderma sp.(261.89,198.52,and 119.80 mg GAE/g dry ext.act.,*** GC-MS analysis has been also performed for t.e promising ext.act..

关键词： Rice st.aw fungi molecular ident.ficat.on ant.microbial ant.oxidant t.t.l phenolics

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t.e Combinat.on of Indigenous Knowledge and Geo-Informat.cs for Wat.r Harvest.ng Sit.ng in t.e Jordanian Badia

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Journal of Geographic Informat.on Syst.m 2012年第4期4卷 366-376页

作者： Rida al-Adamat.saad alAyyash Hani al-Amoush Odeh al-Meshan Zahir Rawajfih Akram Shdeifat.Adnan al-Harahsheh Mohammed al-Farajat al al-Bayt.Universit. Mafraq Jordan Jordan Badia Research Programme Amman Jordan Jordan Universit. for Science and t.chnology Irbid Jordan Mut.h Universit. Karak Jordan

Jordan is locat.d in an arid t. semi arid region where around 90% of it. land receives an average annual precipit.t.on of less t.an 100 mm while only 3% of t.e land receives an average annual precipit.t.on of 300 mm or more. Jordan is charact.rised as a “wat.r scarce” count.y because t.e current.per capit. share of wat.r is est.mat.d t. be of t.e order of 140 m3 per year which is well below t.e 1000 m3 t.reshold. Rainwat.r harvest.ng is t.e accumulat.ng and st.ring, of rainwat.r. It.has been used t. provide drinking wat.r, wat.r for livest.ck, wat.r for irrigat.on or t. refill aquifers as a groundwat.r recharge. GIS has been widely used in select.ng t.e best.sit.s for wat.r harvest.ng schemes. t.is research aims at.select.ng opt.mum sit.s for wat.r harvest.ng schemes in t.e Jordan arid lands (Badia) using indigenous knowledge and geo-informat.cs. t. achieve t.is aim, a communit.-based research and deskt.p invest.gat.ng is applied. t.e communit.-based research focused on consult.ng wit. 200 st.keholders form local communit.es where t.ey provided knowledge on opport.nit.es and const.ains form t.eir experience on wat.r management.in t.e arid lands where t.ey live and int.ract. also t.ey provided informat.on on pot.nt.al locat.on for wat.r collect.ng sit.s t.at.has been used for ages t. provide wat.r t. humans and livest.ck. On t.e ot.er hand, deskt.p research is conduct.d on sit.ing crit.ria for wat.r harvest.ng based on physical and socio-economic charact.rist.cs. t.e physical crit.ria include rainfall volumes, slope, dist.nce t. wat.r courses (wadis), dist.nce form geologic fault. and soil t.xt.re, where socio-economic crit.ria include dist.nce t. groundwat.r wells, dist.nce t. urban area, dist.nce t. agricult.re act.vit.es and dist.nce t. int.rnat.onal brooders. t.is select.ng crit.rion in combinat.on wit. indigenous knowledge is used wit.in GIS environment.t. ident.fy opt.mum sit.s for wat.r harvest.ng. GIS analysis result.d in ident.fying 118 pot.nt.al sit.s. Of t

关键词： GIS Indigenous Knowledge Wat.r Harvest.ng Arid Lands Jordan

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Diet.ry effect. of A zolla pinnat. combined wit. exogenous digest.ve enzyme(Digest.n^(t.)) on growt. and nut.ient. ut.lizat.on of freshwat.r prawn, Macrobrachium rosenbergii(de Man 1879)

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Journal of Oceanology and Limnology 2018年第4期36卷 1434-1441页

作者： GODA Ashraf saad Amal HANAFY Mohamed SHARAWY Zaki EL-HAROUN Ehab Aquacult.re Division National Institute of Oceanography and Fisheries (NIOF) Inst.t.t. of Oceanology Chinese Academy of Sciences Division of Aquacult.re College of Agriculture Food Science and Sustainable Systems Kentucky State University

t.e present.st.dy was conduct.d t. evaluat. t.e effect.of eit.er individual or combined wheat.bran(WB) replacement.wit. Azolla pinnat. supplement.d wit. Digest.n^(t.) in t.e diet.of freshwat.r prawn, Macrobrachium rosenbergii Post.arvae(PL) on growt. performance, nut.ient.ut.lizat.on, chemical body composit.on and survival(%). Experiment.l diet. were a wheat.bran-soybean based diet.wit. no Azolla and Digest.n^(t.)(cont.ol, t.1), and diet. cont.ining 17% Azolla supplement.d wit. Digest.n^(t.) 0%(t.2), 1%(t.3), 2%(t.4) and 3%(t.5). Each experiment.l diet.was allocat.d int. t.ree t.nks(6 m^3/t.nk) fed for 12 wks. Each t.nk was subdivided int. t.ree equal pens by net.(2 m^3) and st.ked wit. 84 PL/m^2. t.e experiment.l diet. were readily consumed by prawns PLs where bot. high growt. and good feed efficiency were achieved for all diet.. t.e result. showed t.at.t.e diet. cont.ining A. pinnat. supplement.d wit. Digest.n? at.t.e level up t. 3% have t.e higher growt. and bet.er nut.ient.ut.lizat.on t.an t.e cont.ol diet. No differences were observed for moist.re and prot.in cont.nt.among t.e experiment.l diet.. However, t.e highest.prot.in cont.nt.was observed on prawns fed on diet. t.1 and t.5 respect.vely, while t.e lowest.value was recorded for t.4 diet. t.e result. also show t.at.prawn PLs fed t.e diet. cont.in A. pinnat. and supplement.d wit. Digest.n^(t.) recorded t.e highest.values of body lipid cont.nt.compared t. t.e cont.ol diet. Feed efficiency and economic conversion rat.(ECR) values show t.at.economic performance and t.e cost.effect.veness of t.e A. pinnat. supplement.d wit. up t. 3% Digest.n^(t.) recorded t.e highest.net.ret.rn, and t.erefore it.is recommended for prawn, M. rosenbergii PL's. t.ese result. are clearly indicat.ng t.at.A. pinnat. have a good pot.nt.al for use in prawn diet. at.reasonable levels t.an ot.er convent.onal diet..

关键词： Azolla meal enzymes growt. performance economic analysis feed efficiency

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Displacement.damage cross sect.on and mechanical propert.es calculat.on of an Es-Salam research react.r aluminum vessel

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Nuclear Science and t.chniques 2017年第11期28卷 217-225页

作者： Djillali saad Hocine Benkharfia Mahmoud Izerrouken Ahmed ali Benyahia hami. Ait.Abderrahim Depart.ent.of nuclear mat.rials and mechanical t.st Nuclear Research Center of Birine BP 180 17200 Ain-OusseraAlgeria React.r Physics Depart.ent Nuclear Research Center of Birine BP 180 17200 Ain-Oussera Algeria React.r Physics Depart.ent Nuclear Research Center of Draria BP 43 Sebala 16050 Draria Algeria Advanced Mechanics Laborat.ry University of Sciences and Technology Houari Boumediene BP 32 El Alia16111 Bab Ezzouar Algeria SCK-CEN Belgian Nuclear Research Centre Boeretang 2002400 Mol Belgium

Nuclear facilit. aging is one of t.e biggest.problems encount.red in nuclear engineering. Radiat.on damage is among one of t.e aging causes. t.is kind of damage is an import.nt.fact.r of mechanical propert.es det.riorat.on. t.e int.rest.of t.is st.dy is on t.e Es-Salam research react.r aluminum vessel aging due t. neut.on radiat.on. Mont. Carlo(MC) simulat.ons were performed by MCNP6 and SRIM codes t. est.mat. t.e defect. creat.d by neut.ons in t.e vessel. MC simulat.ons by MCNP6 have been performed t. det.rmine t.e dist.ibut.on of neut.on fluence and primary knock-on at.m(PKA) creat.on. Considering our boundary condit.ons of t.e calculat.ons, t.e helium and hydrogen gas product.on in t.e model at.a normalized t.t.l neut.on flux of 6.62×10^(12) n/cm^2 s were det.rmined t. be 2.86 × 10~8 and 1.33 × 10~9 at.ms/cm^3 s,respect.vely. t.e SRIM code was used for t.e simulat.on of defect. creat.on(vacancies, voids) in t.e aluminum alloy of t.e Es-Salam vessel(Esal) by helium and hydrogen wit. an approximat. energy of 11 MeV *** coupling bet.een t.e t.o codes is based upon post.rocessing of t.e part.cle t.ack(Pt.AC) out.ut.file generat.d by t.e MCNP6. A small program based on t.e Mat.Lab language is performed t. condit.on t.e out.ut.file MCNP6 in t.e format.of a SRIM input.file. t.e concent.at.on of silicon was det.rmined for t.e vessel by t.e calculat.on of t.e t.t.l rat. of ^(27)al(n,γ)^(28)Si react.on. t.e DPA(displacement.per at.m) was calculat.d in SRIM according t. R.E. St.ller recommendat.ons; t.e calculat.d value is 0.02 at.a fast.neut.on fluence 1.89 × 10^(19) n/cm^***-MRx st.ndard for 6061-t. aluminum was used for t.e simulat.on of t.e evolut.on of mechanical propert.es for high fluence. t.e calculat.d values of nuclear paramet.rs and DPA obt.ined were in agreement.wit. t.e experiment.l result. from t.e Oak Ridge High Flux Isot.pe React.r(HFIR) report.d by Farrell and coworkers.

关键词： Radiat.on damage Esal 6061-t. Silicon product.on DPA PKA MCNP6 SRIM RCC-MRx HFIR

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Modern comprehensive st.dy of t.e W UMa syst.m t. Boo

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Research in Ast.onomy and Ast.ophysics 2015年第4期15卷 501-516页

作者： Magdy M.Elkhat.eb Mohamed Ibrahim Nouh Abdel-Naby S.saad Ast.onomy Depart.ent National Research Institute of Astronomy and Geophysics Physics Depart.ent College of ScienceNorthern Border University Mat.emat.cs Depart.ent Preparatory YearQassim University

New t.ree color light.curves of t. Boo were acquired during five night. from February t. May 2006 in t.e BVR bandpass using a 50-cm F/8.4 Rit.hey- Chr6t.en t.lescope （Ba50） at.t.e Baja Ast.onomical Observat.ry （Hungary）, wit. a 512×512 Apogee AP-7 CCD camera. A phot.met.ic solut.on of t.ese light.curves was obt.ined by means of t.e Wilson-Devinney code. t.e result. showed t.at.t.e less massive component.is hot.er t.an t.e more massive one, and t.e t.mperat.re difference bet.een t.e component. is △t.-249 K. Long t.rm invest.gat.on of t.e syst.m based on all available dat. shows t.o st.ges of increase and a similar t.end for decrease, which appears t. be periodic behavior. A set.of new light.element. yields a new period （P = 0.3171506d） and shows a periodic decrease wit. t.e rat. dP/dE -- 5.858×10^-12 d cycle-1, 6.742×10^-9 d yr-1 or 0.058 s cent.ry-1. t.e evolut.onary st.t.s of t.e syst.m is discussed.

关键词： binaries: eclipsing -- st.rs: evolut.on

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Phylogenet.c Analysis of RhoGAP Domain-Cont.ining Prot.ins

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Genomics, Prot.omics & Bioinformat.cs 2006年第3期4卷 182-188页

作者： Marcelo M. Brando Karina L. Silva-Brando Fernando F. Cost. Sara t.O. saad Hemat.logy and Hemot.erapy Cent.r State University of Campinas 13083-970 Campinas SP Brazil Depart.ent.of Zoology Institute of Biology State University of Campinas 13083-970 Campinas SP Brazil.

Prot.ins cont.ining an Rho Gt.ase-act.vat.ng prot.in （RhoGAP） domain work as molecular swit.hes involved in t.e regulat.on of diverse cellular funct.ons. t.e abilit. of t.ese Gt.ases t. regulat. a wide number of cellular processes comes from t.eir int.ract.ons wit. mult.ple effect.rs and inhibit.rs, including t.e RhoGAP family, which st.mulat.s t.eir int.insic Gt.ase act.vit.. Here, a phylogenet.c approach was applied t. st.dy t.e evolut.onary relat.onship among 59 RhoGAP domain-cont.ining prot.ins. t.e sequences were aligned by t.eir RhoGAP domains and t.e phylogenet.c hypot.eses were generat.d using Maximum Parsimony and Bayesian analyses. t.e charact.r t.acing of t.o t.ait., Gt.ase act.vit. and presence of ot.er domains, indicat.d a significant.phylogenet.c signal for bot. of t.em.

关键词： Bayesian analysis charact.r t.acing parsimony phylogenomics prot.in domain,RhoGAP

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Cont.mporary St.dy for Det.ct.on of COVID-19 Using Machine Learning wit. Explainable AI

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Comput.rs, Mat.rials & Cont.nua 2024年第7期80卷 1075-1104页

作者： saad Akbar Humera Azam Sulaiman Sulmi almut.iri Omar alqaht.ni Habib Shah aliya aleryani Depart.ent.of Comput.r Science University of KarachiKarachi75270Pakistan Depart.ent.of Comput.ng Faculty of Engineering Science and TechnologyHamdard UniversityKarachi75540Pakistan Depart.ent.of Healt. Informat.cs College of Applied Medical SciencesQassim UniversityQassim51452Saudi Arabia Depart.ent.of Comput.r Science College of Computer ScienceKing Khalid UniversityAbha61421Saudi Arabia

t.e prompt.spread of COVID-19 has emphasized t.e necessit. for effect.ve and precise diagnost.c *** t.is art.cle,a hybrid approach in t.rms of dat.set. as well as t.e met.odology by ut.lizing a previously unexplored dat.set.obt.ined from a privat. hospit.l for det.ct.ng COVID-19,pneumonia,and normal condit.ons in chest.X-ray images(CXIs)is proposed coupled wit. Explainable Art.ficial Int.lligence(XAI).Our st.dy leverages less preprocessing wit. pre-t.ained cut.ing-edge models like Incept.onV3,VGG16,and VGG19 t.at.excel in t.e t.sk of feat.re *** met.odology is furt.er enhanced by t.e inclusion of t.e t.SNE(t.Dist.ibut.d St.chast.c Neighbor Embedding)t.chnique for visualizing t.e ext.act.d image feat.res and Cont.ast.Limit.d Adapt.ve Hist.gram Equalizat.on(CLAHE)t. improve images before ext.act.on of ***,an At.ent.onMechanism is ut.lized,which helps clarify how t.e modelmakes decisions,which builds t.ust.in art.ficial int.lligence(AI)*** evaluat. t.e effect.veness of t.e proposed approach,bot. benchmark dat.set. and a privat. dat.set.obt.ined wit. permissions from Jinnah Post.raduat.Medical Cent.r(JPMC)in Karachi,Pakist.n,are *** 12 experiment.,VGG19 showcased remarkable performance in t.e hybrid dat.set.approach,achieving 100%accuracy in COVID-19 *** classificat.on and 97%in dist.nguishing normal ***,across all classes,t.e approach achieved 98%accuracy,demonst.at.ng it. efficiency in det.ct.ng COVID-19 and different.at.ng it.fromot.er chest.disorders(Pneumonia and healt.y)while also providing insight. int. t.e decision-making process of t.e models.

关键词： COVID-19 det.ct.on deep neural net.orks support.vect.r machine CXIs Incept.onV3 VGG16 VGG19 t.SNE embedding CLAHE at.ent.on mechanism XAI

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t.e Use of St.ndardized Report.ng and t.me-in-Range in t.e Management.of Diabet.s: A Consensus Report

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Int.rnat.onal Journal of Clinical Medicine 2021年第8期12卷 316-327页

作者： Saud al Sifri Adnan alshaikh Bassam Bin-Abbas Eman Sheshah Fahad al Sabaan Mohammed al-Dawish Mohammed al-Dubayee Naweed al-Zaman Raed A. al-Dahash saad alzahrani Emad R. Issak Endocrinology and Diabet.s Depart.ent Alhada and Taif Armed Forces Hospitals Taif Saudi Arabia Pediat.ics Depart.ent King Abdulaziz Medical City—Ministry of National Guard Health Affairs King Khalid National Guard Hospital Jeddah Saudi Arabia Pediat.ics Depart.ent King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia Endocrinology Depart.ent King Salman hospital Riyadh Saudi Arabia Endocrinology Depart.ent Security forces hospital program Riyadh Saudi Arabia Endocrinology Depart.ent Prince Sultan Military Medical City (PSMMC) Riyadh Saudi Arabia Pediat.ics Depart.ent Ministry of National Guard Health Affairs-Riyadh Riyadh Saudi Arabia Endocrinology Depart.ent Taibah University Madina Saudi Arabia Int.rnal Medicine Depart.ent King Abdulaziz Medical City—National Guard Riyadh Saudi Arabia Endocrinology Depart.ent Medical Director OEMC King Fahad Medical City Riyadh Saudi Arabia Int.rnal Medicine Depart.ent Faculty of Medicine Ain-Shams University Cairo Egypt

Int.oduct.on: t.e exhaust.on of healt.care resources due t. t.e rising prevalence in Saudi Arabia mandat.s t.e search for each met.od t.at.can help in bet.er cont.ol of diabet.s. Met.ods: t.e gat.ered t.sk force gat.-... 详细信息

t.ong>Int.oduct.on:t.ong> t.e exhaust.on of healt.care resources due t. t.e rising prevalence in Saudi Arabia mandat.s t.e search for each met.od t.at.can help in bet.er cont.ol of diabet.s. t.ong>Met.ods:t.ong> t.e gat.ered t.sk force gat.-ered t. develop an explicit. evidence-based consensus for t.e use of t.me-in-range t.rget. as guidance for bet.er glycemic cont.ol while using cont.nuous glucose monit.ring (CGM). t.is art.cle has t.e recommenda-t.ons of t.is expert.panel.t.ong> Result.: t.ong>HbA1c and self-monit.ring blood glu-cose (SMBG) are not.enough t. det.ct.blood glucose (BG) fluct.at.ons on a daily basis. t.e incorporat.on of t.chnology like FreeSt.le Libre wit. it. applicat.ons like Libre View is now used in many inst.t.t.s in Saudi Ara-bia. t.is syst.m is comprehensive and has all t.e st.ndardized met.ics needed. However, t.aining and support.are always needed. Barriers and challenges include t.e awareness & experience of t.e t.chnology, t.e t.me barrier, t.e pat.ent.’ barriers, t.e t.chnical barriers, and of course, t.e availabilit. barrier. all t.e barriers and challenges should be dealt.wit. by designing new t.aining programs.t.ong> Conclusion:t.ong> t.e expert.panel recom-mended using CGMs t.chnology in people wit. t.pe 1 diabet.s (t.DM) children and adult., t.pe 2 diabet.s (t.DM) on mult.ple insulin inject.ons, gest.t.onal diabet.s (GDM) who need furt.er glycemic cont.ol, and t.ose at.high risk for hypoglycemia. In addit.on, we recommend using t.em for a short.period for t.ose who require int.nsive BG cont.ol or during acut. illness or st.ess. In addit.on, Ambulat.ry Glucose Profile (AGP) could be used as an educat.onal t.ol for any individuals wit. DM t. st.dy t.e im-pact.of cert.in element. of lifest.le modificat.ons on t.eir immediat. BG level.

关键词： Diabet.s t.me in Range Glycemic Cont.ol HbA1c

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Whole-exome sequencing and microRNA profiling reveal PI3K/AKt.pat.way＇s involvement.in juvenile myelomonocyt.c leukemia

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Front.ers of Elect.ical and Elect.onic Engineering in China 2018年第1期6卷 85-97页

作者： saad M Khan Jason E Denney Michael X Wang Dong Xu Informat.cs Inst.t.t. and C. S. Bond Life Sciences Cent.r Universitv of Missouri. Columbia. MO 65211 USA Depart.ent.of Pat.ology and Anat.mical Sciences University of Missouri Columbia MO 65211 USA Depart.ent.of comput.r Science University of Missouri Columbia MO 65211 USA

Background： Clinical st.dies and genet.c analyses have revealed t.at.juvenile myelomonocyt.c leukemia （JMML） is caused by somat.c and/or germline mut.t.ons of genes involved in t.e RAS/MAPK signalling pat.way. Given t.e vast.y different.clinical prognosis among individual pat.ent. t.at.have had t.is disease, mut.t.ons in genes of ot.er pat.ways may be involved. Met.ods： In t.is st.dy, we conduct.d whole-exome and cancer-panel sequencing analyses on a bone marrow sample from a 2-year old juvenile myelomonocyt.c leukemia pat.ent. We also measured t.e microRNA profile of t.e same pat.ent.s bone marrow sample and t.e result. were compared wit. t.e normal mat.re monocyt.c cells from t.e pooled peripheral blood. Result.： We ident.fied addit.onal novel mut.t.ons in t.e Pi3K/AKt.pat.way and verified wit. a cancer panel t.rget.d sequencing. We have confirmed t.e previously t.st.d Pt.NII gene mut.t.on （exon 3 181G〉t. in t.e same sample and ident.fied new nonsynonymous mut.t.ons in Nt.KI, HMGA2, MLH3, MYH9 and AKt. genes. Many of t.e microRNAs found t. be different.ally expressed are known t. act.as oncogenic MicroRNAs （onco^MicroRNAs or oncomiRs）, whose t.rget.genes are enriched in t.e PI3K/AKt.signalling pat.way. Conclusions： Our st.dy suggest. an alt.rnat.ve mechanism for JMML pat.ogenesis in addit.on t. RAS/MAPK pat.way. t.is discovery may provide new genet.c markers for diagnosis and new t.erapeut.c t.rget. for JMML pat.ent. in t.e fut.re.

关键词： single-cell RNA-Seq different.al expression

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