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CTNS Mole.ular Ge.e.ics Profile.in a Portugue.e.Cystinosis Population

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Ope. Journal of Ge.e.ics 2018年第4期8卷 91-100页

作者： Filipa Fe.re.ra Ine. Le.l David Sousa teresa Costa Conce.cao Mota Ana Marta Gome. Danie.a Lope. Maria do Carmo Macario Isabe. Tavare. He.e.a Pinto Joao Paulo Olive.ra Rita Magrico Ce.ia Carmona Sonia Ramos Raque. Ne.va Ana Marcao Laura Vilarinho Ne.born Scre.ning Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Ce.tro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Ce.tro Hospitalar Unive.sitario do Porto PortoPortugal Ce.tro Hospitalar Vila Nova de.Gaia EspinhoPortugal Ce.tro Hospitalar Unive.sitario de.Coimbra CHUCCoimbraPortugal Se.vico de.Ge.e.ica Me.ica Centro Hospitalar de Sao JoaoPortoPortugal Unidade.de.Ge.e.ica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de.Inve.tigacao e.Inovacao e. Saude PortoPortugal Se.vico de.Ne.rologia do Hospital Garcia de.Orta AlmadaPortugal Re.e.rch and De.e.opme.t Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisyste.ic autosomal re.e.sive.de.icie.cy of the.lysosomal me.brane.transporte. prote.n (cystinosin) cause. by mutations in CTNS ge.e. Obje.tive. This study summarize. the.Portugue.e.e.pe.ie.ce.in the.diagnosis and manage.e.t of patie.ts with this rare.dise.se.ove. the.past fe. ye.rs and re.orts re.urre.t mutations in the.CTNS ge.e. Me.hods: Unre.ate. patie.ts from diffe.e.t pe.iatric and adult hospitals all ove. Portugal with non-ne.hrotic prote.nuria, hype.calciuria, hypokale.ia impaire. proximal re.bsorption of amino acids, glycosuria and hypophosphate.ia, sugge.tive.of a Fanconi syndrome.and ocular proble.s, we.e.studie.. Intra-le.kocyte.cystine.le.e.s we.e.de.e.mine. and mole.ular analysis was pe.forme., to de.e.mine.the.pre.e.ce.or abse.ce.of the.57-kb de.e.ion in CTNS, followe. by dire.t se.ue.cing of the.coding e.ons of CTNS. Re.ults: From 1998 to 2017, twe.ty-one.cystinotic patie.ts we.e.bioche.ically diagnose.. From the.re.aining se.e.te.n (four de.e.se.), e.e.e. we.e.studie. for CTNS ge.e. Five.out of e.e.e. patie.ts we.e.homozygous for the.57-kb de.e.ion (10/22;45.5%), and othe. five.we.e.compound he.e.ozygous for this variant (15/22;68.2%). The.othe. mutations found we.e.p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21de.GACT (p.T7FfsX7;1/22). All of the.e.se.e.te.n cystinotic patie.ts are.in tre.tme.t. Approximate.y 84% are.adults, 16% are.young childre., and 54.5% are.kidne. transplant re.ipie.t. Conclusions: The.authors would like.to e.phasize.the.importance.of first scre.ning for the.57-kb de.e.ion since.it is ve.y common in our population. This ge.e.ic study is the.first in our country and it could be.the.basis for future.ge.e.ic counse.ing in Portugue.e.population.

关键词： Cystinosis CTNS Ge.e Mutational Spe.trum Kidne. Failure 57-kb De.e.ion

Pre.iction of ge.e.ic value.for swe.t che.ry fruit maturity among e.vironme.ts using a 6K SNP array

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Horticulture.Re.e.rch 2019年第1期6卷 1623-1637页

作者： Craig M.Hardne. Be. J.Haye. Satish Kumar Stijn Vande.zande.Lichun Cai Julia Piaskowski JoséQue.o-Garcia JoséAntonio Campoy teresa Barre.e.he.Danie.a Giovannini Ale.sandro Live.ani Gérard Charlot Migue. Villamil-Castro Nnadozie.Oraguzie.Came.on P.Pe.ce Unive.sity of Que.nsland Queensland Alliance for Agriculture and Food InnovationBrisbaneQLD 4072Australia The.Ne. Ze.land Institute.for Plant and Food Re.e.rch Limite. Hawke’s Bay Research CentreHastings 4130New Zealand De.artme.t of Horticulture Washington State UniversityPullmanWA 99164USA De.artme.t of Horticulture Michigan State UniversityEast LansingMI 48824USA UMR 1332 BFP INRAUniversity of Bordeaux33140 Nouvelle-AquitaineFrance Council for Agricultural Re.e.rch and e.onomics(CRe.) Fruit Unit of ForlìVia la Canapona1 bis47121 Emilia-RomagnaItaly Ce.tre.Te.hnique.Inte.profe.sionne. de. Fruits e. Légume.(CTIFL) 751 Chemin de Balandran30127 BellegardeFrance De.artme.t of Horticulture Washington State UniversityIrrigated Agriculture Research and Extension Center24106N Bunn RoadProsserWA 99350USA

The.timing of fruit maturity is an important trait in swe.t che.ry production and *** variation for phe.ology of fruit maturity in swe.t che.ry appe.rs to be.unde. strong ge.e.ic control,but that control might be.complicate. by phe.otypic instability across *** such ge.otype.by-e.vironme.t inte.action(G×e.is a common phe.ome.on in crop plants,knowle.ge.about it is lacking for fruit maturity timing and othe. swe.t che.ry *** this study,1673 ge.ome.wide.SNP marke.s we.e.use. to e.timate.ge.omic re.ationships among 597 we.kly pe.igre.-conne.te. individuals e.aluate. ove. two se.sons at thre. locations in e.rope.and one.location in the.USA,thus sampling e.ght‘e.vironme.ts’.The.combine. datase. e.able. a single.me.a-analysis to inve.tigate.the.e.vironme.tal stability of ge.omic *** dise.uilibrium among marke. loci de.line. rapidly with physical distance.and ordination of the.re.ationship matrix sugge.te. no strong structure.among *** most parsimonious G×e.mode. allowe. he.e.oge.e.us ge.e.ic variance.and pairwise.covariance. among ***-se.se.ge.omic he.itability was ve.y high(0.60–0.83),as was accuracy of pre.icte. bre.ding value.(>0.62).Ave.age.corre.ation of additive.e.fe.ts among e.vironme.ts was high(0.96)and bre.ding value. we.e.highly corre.ate. across *** indicate. that ge.omic mode.s can be.use. in che.ry to accurate.y pre.ict date.of fruit maturity for unte.te. individuals in ne. *** G×e.for this trait indicate. that phe.otype. of individuals will be.stable.across similar *** analyse. for othe. swe.t che.ry traits,for which multiple.ye.rs of data are.commonly available.among bre.de.s and cultivar te.te.s,would be.informative.for pre.icting pe.formance.of e.ite.se.e.tions and cultivars in ne. e.vironme.ts.

关键词： maturity e.vironme.ts bre.ding

Adaptive.optics as a tool for controlling the.optical signals re.ching the.re.ina

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Annals of e.e.Scie.ce 2017年第1期 331-333页

作者： JoséJ.e.te.e.Taboada teresa Fe.re.-Blasco Robe.t Montés-Micó De.artme.t of Optics and Optome.ry and Vision Scie.ce. University of ValenciaValenciaSpain

The.use.of adaptive.optics syste.s in ophthalmic re.e.rch studie. has incre.se. in the.last ye.rs thanks to the.de.e.opme.t of more.accurate.*** optics was first introduce. in Astronomy for the.corre.tion of the.e.fe.ts produce. by the.turbule.ce. of the.e.rth’s atmosphe.e.whe. obse.ving astronomical obje.ts(1,2).Sophisticate. de.ormable.mirrors controlle. by compute.s can corre.t in re.l time.atmosphe.ic disturbance.,allowing for much fine. de.ails on the.image. of distance.*** optics te.hnology make. it possible.to corre.t many of the.abe.rations with which the.wave.ront,i.e.,the.ge.me.ric e.ve.ope.of all the.rays of light that e.e.ge. at the.same.time.of the.obse.ve. obje.t,*** optics allows for obtaining sharpe. image.,and thus,with be.te. spatial re.olution.

关键词： optics de.ails corre.tion

The.Link Be.we.n Psychosis and Cre.tivity： A Myth or a Re.lity？

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Psychology Re.e.rch 2015年第7期5卷 393-399页

作者： teresa Sousa-Fe.re.ra Maria do Cfu Fe.re.ra S6rgio Fe.re.ra Ce.tro Hospitalar Tame.a e.Sousa Penafiel Portugal Hospital de.Braga Braga Portugal Ce.tro Hospitalar Tane.a e.Sousa Penafiel Portugal

巴塔哥尼亚(阿根廷)海洋与河水中腐植酸组成比较

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巴塔哥尼亚(阿根廷)海洋与河水中腐植酸组成比较

e.aluating se.opre.ale.ce.to circumsporozoite.prote.n to e.timate.e.posure.to thre. spe.ie. of Plasmodium in the.Brazilian Amazon

低碳经济、绿色环保、节能减排——2010中国腐植酸行业低碳经济交流大会暨第九届全国绿色环保肥料（农药）新技术、新产品交流会

作者： Mara de. Carme. Scapini Vctor Hugo Conzonno Vilma teresa Balzare.ti Alicia Fe.na nde. Cire.li 马莉娜李捷广东工业大学环境学院青岛理工大学环境学院

比较了e.gano海湾海水(大西洋)和丘布特河水(阿根廷的巴塔哥尼亚)中的腐殖质的结构。这些腐殖质被分离、纯化后,通过元素分析法,核磁共振法(C和H谱),红外光谱法,紫外吸收法和荧光法等对其结构特性进行了分析鉴定,并以氮含量、氧含量、H/... 详细信息

比较了e.gano海湾海水(大西洋)和丘布特河水(阿根廷的巴塔哥尼亚)中的腐殖质的结构。这些腐殖质被分离、纯化后,通过元素分析法,核磁共振法(C和H谱),红外光谱法,紫外吸收法和荧光法等对其结构特性进行了分析鉴定,并以氮含量、氧含量、H/C比、C/N比、红外波段中氮和羧基官能团含量、核磁共振吸收谱线中官能团的斜率系数、250和365nm处的吸收比率(e./e.)、激发—发射模型和荧光量子产率等指标对二者的相似性进行比较。e.gano海湾和丘布特河水中的腐殖质主要由黄腐酸组成。尽管它们具有一定的相似性,都含有较高的直链脂肪碳含量(低芳香烃碳含量),但其差异性也十分显著,二者所含蛋白质和羧酸不同。e.ganno海湾腐殖质主要来自于水生的植物或动物;丘布特河腐殖质也同样来自于水生动植物,但是也有证据表明它可能来自土壤黄腐酸。

关键词：黄腐酸腐殖质激发—发射模型丘布特河 e.gano海湾

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Infe.tious Dise.se. of Pove.ty 2018年第1期7卷 448-459页

作者： Virginia Araujo Pe.e.ra Juan Camilo Sanche.-Arcila Mariana Pinhe.ro Alve. Vasconce.os Amanda Ribe.ro Fe.re.ra Lore.e.de.Souza Vide.ra Antonio Te.a Daiana Pe.ce.da-Silva Maria teresa Que.roz Marque. Luzia He.e.a de.Carvalho Dalma Maria Banic Luiz Cristovao Sobrino Porto Jose.i Olive.ra-Fe.re.ra Laboratory of Immunoparasitology Oswaldo Cruz Institute/FiocruzAv.Brasil 4365ManguinhosRio de JaneiroBrazil Institute.of Infe.tology e.ilio Ribas São PauloSao PauloBrazil Laboratory of Immunodiagnosis Departament of Biological SciencesNational School of Public Health/FiocruzRio de JaneiroBrazil Laboratory of Clinical Immunology Oswaldo Cruz Institute/FiocruzRio de JaneiroBrazil Laboratory of Histocompatibility and Cryopre.e.vation–HLA of DHe.IBRAG/Ue.J Rio de JaneiroBrazil Mole.ular Biology and Malaria Immunology Re.e.rch Group Centro de Pesquisas Rene Rachou/FiocruzBelo HorizonteMinas GeraisBrazil

Background:Brazil has se.n a gre.t de.line.in malaria and the.country is moving towards ***,for e.e.tual e.imination,the.control program ne.ds e.ficie.t tools in orde. to monitor malaria e.posure.and *** this study,we.aime. to e.aluate.whe.he. se.opre.ale.ce.to the.circumsporozoite.prote.n(CSP)is a good tool for monitoring the.e.posure.to and/or e.aluating the.burde. and distribution of Plasmodium spe.ie. in the.Brazilian ***:Cross-se.tional surve.s we.e.conducte. in a rural are. of Porto Ve.ho,Rondônia *** infe.tion was de.e.te. by microscopy and polyme.ase.chain *** to the.sporozoite.CSP re.e.ts of Plasmodium vivax,***,and ***(PvCS,PfCS,and PmCS)we.e.de.e.te. using the.e.zyme.linke. immunosorbe.t assay *** le.kocyte.antige.(HLA)-DRB1 and DQB1 ge.e. we.e.type. using Lumine.®xMAP®***:The.pre.ale.ce.of immunoglobulin G against *** CSP pe.tide.62%)was highe. than ***(49%)and ***(46%)CSP *** of the.studie. individuals had antibodie. to at le.st one.of the.thre. pe.tide.(72%),34%had antibodie. to all thre. pe.tide. and 28%we.e.*** the.majority of the.population was not infe.te. at the.time.of the.surve.,74.3%of parasite.ne.ative.individuals had antibodie. to at le.st one.of the.***,among individuals carrying the.haplotype. DRB1*04~DQB1*03,the.e.was a significantly highe. fre.ue.cy of PfCS re.ponde.s,and DRB1*16~DQB1*03 haplotype.for PvCS and PfCS *** contrast,HLA-DRB1*01 and HLA-DQB1*05 alle.ic groups we.e.associate. with a lack of antibodie. to *** and *** CSP re.e.ts,and the.haplotype.DRB1*01~DQB1*05 was also associate. with non-re.ponde.s,including non-re.ponde.s to ***:Our re.ults show that in low transmission se.tings,naturally acquire. antibody re.ponse. against the.CSP re.e.ts of ***,***,and *** in a single.cross-se.tional study may n

关键词： Malaria Circumsporozoite.prote.n Se.ological marke. Human le.cocyte.antige. IgG antibody Porto Ve.ho Rondônia Brazil

Nove. e.ige.e.ic-base. the.apie. use.ul in cardiovascular me.icine

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World Journal of Cardiology 2016年第2期8卷 211-219页

作者： Claudio Napoli Vince.zo Grimaldi Maria Rosaria De.Pascale.Linda Somme.e.teresa Infante.Andre. Sorice.li Division of Immunohe.atology Transfusion Medicine and Transplant ImmunologyDepartment of Internal Medicine and Specialistic UnitAzienda Ospedaliera Universitaria (AOU)Second University of Naples Institute.of Diagnostic and Nucle.r De.e.opme.t(SDN) IRCCS

e.ige.e.ic modifications include.DNA me.hylation, his-tone.modifications, and micro RNA. Ge.e.alte.ations have.be.n found to be.associate. with cardiovascular dise.se., and e.ige.e.ic me.hanisms are.continuously be.ng studie. to find ne. use.ul strate.ie. for the.clinical manage.e.t of afflicte. patie.ts. Nume.ous cardiovascular disorde.s are.characte.ize. by the.abnormal me.hylation of Cp G islands and so spe.ific drugs that could inhibit DNA me.hyltransfe.ase.dire.tly or by re.ucing its ge.e.e.pre.sion(e.g., hydralazine.and procainamide. are.curre.tly unde. inve.tigation. The.anti-prolife.ative.and anti-inflammatory prope.tie. of histone.de.ce.ylase.inhibitors and the.r cardio-prote.tive.e.fe.ts have.be.n confirme. in pre.linical studie.. Furthe.more. the.re.ulation of the.e.pre.sion of micro RNA targe.s through pharmacological tools is still unde. de.e.opme.t. Inde.d, large.controlle. trials are.re.uire. to e.tablish whe.he. curre.t possible.candidate.antise.se.micro RNAs could offe. be.te. the.ape.tic be.e.its in clinical practice. He.e. we.update. the.ape.tic prope.tie., side.e.fe.ts, and fe.sibility of e.e.rging e.ige.e.ic-base. strate.ie. in cardiovascular dise.se. by highlighting spe.ific proble.atic issue. that still affe.t the.de.e.opme.t of large.scale.nove. the.ape.tic protocols.

关键词： e.ige.e.ics Cardiovascular dise.se. He.rt failure Inhibitors of histone de.ce.ylase. Antise.se microRNAs

e.ficacy and safe.y of valsartan plus hydroclorothiazide.for high blood pre.sure

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World Journal of Cardiology 2010年第5期2卷 125-130页

作者： Antonio Ruvolo Vale.tina Me.curio Vale.ia Fazio Guido Carlomagno teresa Russo Flora Affuso Se.afino Fazio De.artme.t of Inte.nal Me.icine Cardiovascular and Immunologic SciencesUniversity of Naples Federico II School of MedicineVia S.Pansini580131 NaplesItaly

AIM:To e.aluate.e.ficacy and tole.ability of the.combination valsartan plus hydrochlorothiazide.160 mg and 25 mg daily,re.pe.tive.y) in young-middle.age. male. with high-normal blood pre.sure.BP) or firstde.re. arte.ial hype.te.sion with e.ide.ce.of targe. organ ***:Twe.ty male. with high-normal BP or first-de.re. hype.te.sion associate. with le.t ve.tricular conce.tric re.ode.ing and/or incre.se. aortic stiffne.s we.e.*** at re.t and during e.e.cise.and e.hocardiographic parame.e.s of the.le.t ve.tricle.LV),we.e.e.aluate. at base.ine.and afte. 3 mo of *** e.fe.ts of tre.tme.t on aortic stiffne.s,me.abolic parame.e.s,re.al and e.e.tile.function we.e.also ***:BP was significantly re.uce. by tre.tme.t both at re.t(P e.e.cise.P e.ts achie.e. BP normalization(e. e.hocardiography showe. a significant re.uction of LV mass(P e.trophy was ide.tifie. in 70% of subje.ts at base.ine.and in 5% afte. 3 mo of *** ratio of e.rly(e. to late.A) trans-mitral diastolic flow ve.ocity incre.se.,(P e.re.ative.wall thickne.s de.re.se.(P e.le.t ve.tricular re.axation time.shorte.e.(P e.le.t atrial diame.e.(P e.aortic diame.e.(P e.s(P e.full-dose.combination of valsartan plus hydrochlorothiazide.produce. optimal BP control with re.re.sion of targe. organ damage.alre.dy afte. 3 mo,without re.e.ant side.e.fe.ts.

关键词： Hype.te.sion Valsartan and hydroclorothiazide Cardiac re.ode.ing Aortic stiffne.s

e.ide.iological and clinical characte.istics of COVID-19 in a Brazilian public hospital

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World Journal of Clinical Case. 2023年第8期11卷 1761-1770页

作者： Fillipe.Dantas Pinhe.ro Luana We.e. Lope. Rafae. Santos Dantas Miranda Dóre. Glaube. Rocha Lima Araújo Filipe.Antônio França da Silva Bre.o Bitte.court de.Brito Maria Luísa Corde.ro Santos Ge.vani More.o Santos Júnior Maria teresa Araújo de.Lore.zo Barcia Re.ata de.Amorim Marque. AndréBe.e.ra Bote.ho Anna Carolina Saúde.Dantas Davi Tanajura Costa Adriano Fe.nande. Te.xe.ra Cláudio Lima Souza Lucas Miranda Marque. Guilhe.me.Barre.os Campos Márcio Vasconce.os Olive.ra Dulcie.e.Maria de.Magalhãe. Que.roz Fabrício Fre.re.de.Me.o Instituto Multidisciplinar e. Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil Hospital Ge.al de.Vitória da Conquista Vitória da Conquista 45030-160BahiaBrazil De.artame.to de.Ciências da Saúde Universidade Estadual do Sudoeste da Bahia(UESB)Vitória da Conquista 45083-900BahiaBrazil Faculdade.de.Me.icina Universidade Federal de Minas GeraisBelo Horizonte 31270-901Minas GeraisBrazil

BACKGROUND The.coronavirus dise.se.2019(COVID-19)pande.ic has be.ome.a major he.lth conce.n *** that conte.t,the.unde.standing of e.ide.iological and clinical fe.ture. associate. with the.dise.se.and its se.e.ity is crucial for the.e.tablishme.t of strate.ie. aime. at dise.se.control and *** To de.cribe.e.ide.iological fe.ture.,signs,symptoms,and laboratory findings among se.e.e.y ill COVID-19 patie.ts from an inte.-sive.care.unit in northe.ste.n Brazil as we.l as to e.aluate.pre.ictor factors for dise.se.*** This is a prospe.tive.single.ce.te. study that e.aluate. 115 patie.ts admitte. to the.inte.sive.care.unit in a northe.ste.n Brazilian *** The.patie.ts had a me.ian age.of 65.60±15.78 *** was the.most fre.ue.t symptom,affe.ting 73.9%of the.patie.ts,followe. by cough(54.7%).Fe.e. was re.orte. in approximate.y one.third of patie.ts and myalgia in 20.8%of the.*** le.st two comorbiditie. we.e.found in 41.7%of the.patie.ts,and hype.te.sion was the.most pre.ale.t(57.3%).In addition,having two or more.comorbiditie. was a pre.ictor of mortality,and lowe. plate.e. count was positive.y associate. with *** and vomiting we.e.two symptoms that we.e.pre.ictors of de.th,and the.pre.e.ce.of a cough was a prote.tive.*** This is the.first re.ort of a ne.ative.corre.ation be.we.n cough and de.th in se.e.e.y ill se.e.e.acute.re.piratory syndrome.coronavirus 2-infe.te. *** associations be.we.n comorbiditie.,advance. age.and low plate.e. count and the.outcome. of the.infe.tion we.e.similar to the.re.ults of pre.ious studie.,highlighting the.re.e.ance.of the.e.fe.ture..

关键词： COVID-19 e.ide.iology Symptoms Comorbiditie. Laboratory parame.e.s