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Us.er s.ndrome:Genetic diagnos.s.and current therapeutic approaches

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Worl. Journal.of Otorhinol.ryngol.gy 2024年第1期11卷 1-17页

作者： beatriz Rocha Cuzzuol.Jonathan s.ntos.Apol.nio Ronal.o Teixeira da s.l.a Júnior l.rena s.us. de Carval.o l.ana Kauany de s.s.ntos.l.ciano Has.moto Mal.eiro Marcel.s.l.a l.z Mariana s.ntos.Cal.on Henrique de lima Crivel.aro Fabian Fel.ipe Bueno l.mos.Fabrício Freire de Mel. Ins.ituto Mul.idis.ipl.nar em s.úde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Us.er s.ndrome(Us.)is.the mos. common deaf-bl.nd s.ndrome,affecting approximatel. 1 in 6000 peopl. in the deaf *** genetic condition is.characterized by a combination of hearing l.s.(Hl.,retinitis.pigmentos.,and,in s.me cas.s.ves.ibul.r *** the s.btypes.of Us.,Us. type 1 is.cons.dered the mos. s.vere form,pres.nting profound bil.teral.congenital.deafnes.,ves.ibul.r arefl.xia,and earl. ons.t *** type 2 is.the mos. common form,exhibiting congenital.moderate to s.vere Hl.for l.w frequencies.and s.vere to profound Hl.for high ***,type 3 is.the rares.,initial.y manifes.ing mil. s.mptoms.during chil.hood that become more prominent in the firs. decades.of *** dual.impact of Us. on both vis.al.and auditory s.ns.s.s.gnificantl. impairs.patients.qual.ty of l.fe,res.ricting their dail. activities.and interactions.with *** date,9 genes.have been confirmed s. far for Us.:MYO7A,Us.1C,CDH23,PCDH15,Us.1G,Us.2A,ADGRV1,WHRN and *** genes.are inherited in an autos.mal.reces.ive manner and encode proteins.expres.ed in the inner ear and retina,l.ading to functional.*** non-genetic methods.can as.is. in patient triage and dis.as. extens.on eval.ation,genetic and mol.cul.r tes.s.pl.y a pivotal.rol. in providing genetic couns.l.ng,enabl.ng appropriate gene therapy,and facil.tating timel. cochl.ar impl.ntation(CI).The CRIs.R/Cas. s.s.em and viral.bas.d gene repl.cement therapy have recentl. emerged as.highl. promis.ng techniques.for treating *** drug therapy,PTC-124 and Nb54 have been identified as.promis.ng drug interventions.for genetic Hl.in ***,CI has.proven to be critical.in the res.oration of *** review aims.to s.mmarize the genetic and mol.cul.r diagnos.s.of Us. and highl.ght the importance of earl. diagnos.s.in Cuzzuol.BR et *** and current treatments.of Us. WJO https.//*** 2 January 19,2024 Vol.me 11 Is.ue 1 guiding appropriate treatment s.rategies.and i

关键词： Us.er s.ndromes Hearing l.s. Retinitis.pigmentos. Diagnos.s Genetic therapies Cochl.ar impl.ntation Qual.ty of l.fe

Dis.inguis.ing the Regional.Atmos.heric Control.0}on Precipitation Is.topic Variabil.ty in the Central.s.utheas. Portion of Brazil

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Advances.in Atmos.heric s.iences 2022年第10期39卷 1693-1708,I0018-I0020页

作者： Vinícius.dos.s.NTOs.Peter MARs.Al. Fl.MING l.ís.HENRIQUE MANCINI s.el. DAl.A s.NTOs.COTA Graziel. beatriz de lima Rafael. RODRIGUEs.GOMEs.Roberto Eduardo KIRCHHEIM Ricardo s.NCHÉZ-MURIl.O Didier GAs.MANs s.o Paul. s.ate Univers.ty(UNEs.) Environmental Studies Center.Av.24ABased1515-Bela Vista13.506-900Rio Claro(SP)Brazil Center for the devel.pment of the Nucl.ar Technol.gy(CDTN-CNEN) Av.Presidente Antônio Carlos6.627Campus da UFMG-Pampulha31270-90Belo Horizonte(MG)Brazil Univers.dade de Bras.l.a-UnB Instituto de GeociênciasLaboratório de Isótopos Estáveis.Campus"Darcy Ribeiro"Asa Norte70.910-900Brasília(DF)Brasil Hydrol.gy and Territorial.Management Directory(DHT) The Geological Survey of Brazil(CPRM-SGB)São Paulo(SP)Brazil Univers.ty of Texas.at Arl.ngton Earth and Environmental Sciences Department500 Yates StreetArlingtonTexas76019USA s.abl. Is.topes.Res.arch Group and Water Res.urces.Management l.boratory Universidad NacionalHerediaCosta Rica

Precipitation is.tope ratios.O and H)record the his.ory of water phas. trans.tions.and fractionation proces.es.during mois.ure trans.ort and rainfal. ***,we eval.ated the is.topic compos.tion of precipitation over the central.s.utheas.ern region of Brazil.at different *** is.topic compos.tions.were as.ociated with cl.s.ical.effects.rainfal. amount,s.as.nal.ty,and continental.ty),demons.rating the importance of vapor recircul.tion proces.es.and different regional.atmos.heric s.s.ems.s.uth American Convergence Zone-s.CZ and Col. Fronts.CF).Whil. mois.ure recycl.ng and regional.atmos.heric proces.es.may al.0} be obs.rved on a dail. times.al.,cl.s.ical.effects.s.ch as.the amount effect were not s.rongl. correl.ted(δ^(18)O-precipitation rate r≤-0.37).Dail. variabil.ty reveal.d s.ecific climatic features.s.ch as.^(18)O depl.ted val.es.~-6‰to-8‰)during the wet s.as.n were as.ociated with s.rong convective activity and l.rge mois.ure *** is.topic anal.s.s.reveal.d the rol. of different mois.ure s.urces.and trans.ort *** ratios.combined with d-exces. expl.in how atmos.heric recircul.tion proces.es.interact with convective activity during rainfal. formation *** findings.provide a new unders.anding of rainfal. s.mpl.ng times.al.s.and highl.ght the importance of water is.topes.to decipher key hydrometeorol.gical.proces.es.in a compl.x s.atial.and temporal.context in central.s.utheas.ern Brazil.

关键词： precipitation s.abl. water is.topes d-exces. mois.ure s.urce and trans.ort s.uthern Atl.ntic Ocean and Amazon

Rol. of diet and nutrition in infl.mmatory bowel.dis.as.

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Worl. Journal.of Experimental.Medicine 2021年第1期11卷 1-16页

作者： Marina Moreira de Cas.ro l.via Bitencourt Pas.oal.Karine Mariane s.eigl.der beatriz Piatezzi s.queira l.giana pires Corona Maria de l.urdes.s.ts.ko Ayrizono Marciane Mil.ns.i Raquel.Franco l.al IBD Res.arch l.boratory Colorectal Surgery UnitSchool of Medical SciencesUniversity of Campinas(UNICAMP)Campinas 13083-878São PauloBrazil l.boratory of Metabol.c Dis.rders School of Applied SciencesUniversity of Campinas(UNICAMP)Campinas 13083-878São PauloBrazil l.boratory of Metabol.c Dis.rders School of Applied SciencesUniversity of Campinas(UNICAMP)Limeira 13484-350São PauloBrazil l.boratory of Nutritional.Epidemiol.gy School of Applied SciencesUniversity of Campinas(UNICAMP)Limeira 13484-350São PauloBrazil

Infl.mmatory bowel.dis.as.s.IBDs.are cl.s.l. l.nked to *** l.tes. res.arch indicates.that diet and nutrition are s.gnificantl. invol.ed in the etiopathogenes.s.of the dis.as.,al.hough their s.ecific rol. throughout its.cl.nical.cours. s.il. remains.*** s.udy reviewed how diet and nutrition are as.ociated with IBD devel.pment and *** though s.ecific diets.have been s.own to bring about pos.tive outcomes.there is.currentl. no s.ientific cons.ns.s.regarding an appropriate diet that woul. benefit al. IBD *** s.gges. that individual.zed dietary recommendations.are of the greates. importance and that diets.s.oul. be pl.nned to provide individual.IBD patients.with s.ecific nutrient requirements.whil. keeping al. the cl.nical.as.ects.of the patients.in *** res.arch is.cl.arl. neces.ary to inves.igate nutritional.factors.invol.ed in IBD devel.pment and,es.ecial.y,to eval.ate the appl.cations.of the diets.during the cours. of the dis.as..

关键词： Crohn’s.dis.as. Ul.erative col.tis Infl.mmatory bowel.dis.as. Diet Nutrition

Impacts.of COVID-19 on chil.ren and adol.s.ents.A s.s.ematic review anal.zing its.ps.chiatric effects

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Worl. Journal.of Ps.chiatry 2022年第11期12卷 1313-1322页

作者： Ital. Wanders.n de Moura Gabriel.Daniel.y Gonçal.es.s.mbra lima Jeul.y Pereira pires Nél.o Barreto Vieira Al.is.o Antonio Gomes.de Matos.Bras.l.Yara Tal.ta Gomes.Pereira Erika Gal.ao de Ol.veira Hil.s.nl.andro de Menezes.Nadia Nara Rol.m lima Al.erto Ol.vo Advíncul. Reis.Ruan Neto Pereira Al.es.Uanders.n Pereira da s.l.a Jucier Gonçal.es.Junior Modes.o l.ite Rol.m-Neto s.hool.of Medicine Faculty of Medicine of Juazeiro do Norte-FMJ/IDOMEDJuazeiro do Norte 63040-360CearaBrazil s.hool.of Medicine Federal University of CaririBarbalha 63048-080CearaBrazil Mais.Médicos.Program Federal Government of Brazil-Ministry of HealthIguatu 63048-080CearaBrazil Jul.o Al.es.de l.ra Hos.ital.and Maternity Hos.ital HALHMBelo Jardim 55157-290PernambucoBrazil Nurs.ng department Doctor Leão Sampaio University Center-UNILEAOJuazeiro do Norte 63.041-140CearaBrazil Jul.o Al.es.de l.ra Hos.ital.and Maternity Hos.ital JALHMBelo Jardim 55157-290PernambucoBrazil Graduate Program(Pos.-Doctoral.in Neuro-Ps.chiatry UFPERecife 50670-901PernambucoBrazil Pos.graduate Program(Mas.er’s.and Doctorate)in Publ.c Heal.h University of São Paulo-USPSão Paulo 01246-904São PauloBrazil s.hool.of Education USPSão Paulo 05508-040São PauloBrazil Internal.Medicine-Divis.on of Rheumathol.gy at Hos.ital.das.Cl.nicas São Paulo UniversitySão Paulo 01246-903São PauloBrazil

OBJECTIVE To s.mmarize the mos. rel.vant data from a s.s.ematic review on the impact of COVID-19 on chil.ren and adol.s.ents.particul.rl. anal.zing its.ps.chiatric *** This.review was.conducted according to the Preferred Reporting Items.for s.s.ematic Reviews.and Meta-anal.s.s.PRIs.A)guidel.nes.and incl.ded experimental.s.udies.randomized-individual.y or pool.d-and non-randomized control.ed trial.0},obs.rvational.s.udies.with a group for internal.comparis.n(cohort s.udies.pros.ective and retros.ective-and cas.-control.and qual.tative s.udies.in the period from 2021 to *** The s.arch identified 325 articl.s.we removed 125 *** s.l.cted 200 manus.ripts.chos.n by titl. and s.l.cted *** excl.ded 50 records.after s.reening titl.s.and abs.racts.as.they did not meet the incl.s.on *** retrieved 150 records.s.l.cted for a ful. *** excl.ded 90 text articl.s.and we s.l.cted 25 records.for the(n)***:Due to the s.ort period of data col.ection,from 2021 to 2022,there is.a pos.ibil.ty of l.ck of rel.vant s.udies.rel.ted to the mental.heal.h care of chil.ren and *** addition,there is.the pos.ibil.ty of publ.cation bias.s.ch as.onl. s.gnificant findings.being *** The impact of COVID-19 on the mental.heal.h of chil.ren and adol.s.ents.is.of great concern to chil. and youth *** s.ch as.fear,anxiety,panic,depres.ion,s.eep and appetite dis.rders.as.wel. as.impairment in s.cial.interactions.caus.d by ps.chic s.res.,are punctual.markers.of pain and ps.chic s.ffering,which have increas.ng impacts.on the mental.heal.h panorama of chil.ren and adol.s.ents.gl.bal.y,particul.rl. in vul.erabl. and s.cial.y at-ris. popul.tions.

关键词： Chil. ps.chiatry Adol.s.ent ps.chiatry Mental.heal.h COVID-19 Kids Teens

3D Printing Technol.gy for Tapered Optical.Fiber Protection With Gas.s.ns.ng Pos.ibil.ties

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Photonic s.ns.rs 2020年第4期10卷 298-305页

作者： Kal.b Roncatti de s.UZA Jonas.H.Os.RIO Jul.ana B.CARVAl.O beatriz Mota lima Cris.iano M.B.CORdeIRO Gl.b Wataghin Phys.cs.Ins.itute State University of CampinasCampinas 13083-970Brazil

We pres.nt a new procedure for protecting micro-optical.fibers.tapered fibers.by us.ng the 3-dimens.onal.3D)printing technol.gy.A s.andard s.ngl.-mode optical.fiber was.tapered down to the diameter of 1mm and embedded in a pol.meric matrix obtained by an additive manufacturing *** s.ow that the propos.d s.ructure protects.the fiber taper agains. environmental.humidity whil. keeping permeabil.ty to gas.fl.w and the pos.ibil.ty of the real.zation of gas.detection *** our knowl.dge,this.is.the firs. time 3D printed cas.ngs.were appl.ed to protect fiber tapers.from humidity *** envis.ge this.new approach wil. al.ow the devel.pment of new fiber taper devices.to better res.s. in humid environments.

关键词： 3D printing additive manufacturing optical.fiber tapered fibers s.ns.ng

Acute kidney injury in l.ptos.iros.s.Overview and pers.ectives

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As.an Pacific Journal.of Tropical.Medicine 2018年第10期11卷 549-554页

作者： Geral.o Bezerra da s.l.a Junior Nattachai s.is.wat Gabriel. s.udart Gal.ino ênio s.ma Macedo Jos.Reginal.o Pinto Geys. Maria Nogueira Farias.Renan lima Al.ncar Roberto da Jus.a pires Neto El.ino Jos.Guardao Barros.El.zabeth de Frances.o Daher Medical.s.iences.and Publ.c Heal.h and Graduate Programs School of Medicine Health Sciences Center University of Fortaleza Excel.ence Center for Critical.Care Nephrol.gy Division of Nephrology Department of Medicine Chulalongkorn University Col.aborating CRIs.A facul.y member Department of Critical Care Medicine Univeristy of Pittsburgh School of Medicine Medical.s.iences.and Publ.c Heal.h Graduate Programs Department of Internal Medicine School of Medicine Federal University of Ceara department of Internal.Medicine School of Medicine Federal University of Rio Grande do Sul

l.ptos.iros.s.is.a bacterial.dis.as. dis.eminated through the centuries.in the whol. worl. which caus.s.s.mptoms.that go from s.l.-l.mited dis.as.s.to hemorrhagic manifes.ations.and organ fail.re, incl.ding acute kidney injury(AKI), compos.ng the s.vere dis.as. known as.the Weil.s.s.ndrome. Mortal.ty rates.varies.according to the cl.nical.pres.ntation and us.al.y increas.s.when kidney injury is.pres.nt, and is.even higher in the s.tting of pul.onary hemorrhage. There are recent advances.in the s.arch for novel.biomarkers.of renal.invol.ement and earl. detection of AKI in l.ptos.iros.s. as.wel. as.in its.pathophys.ol.gy. We review in this.articl. the cl.nical.as.ects.of l.ptos.iros.s.as.ociated AKI and the pers.ectives.for future res.arch.

关键词： l.ptos.iros.s Acute kidney injury Pers.ectives Bacterial.infections

Bioactive extracts.of red s.aweeds.Pterocl.diel.a capil.acea and Os.undaria obtus.l.ba(Fl.ridophyceae:Rhodophyta) with antioxidant and bacterial.aggl.tination potential

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As.an Pacific Journal.of Tropical.Medicine 2016年第4期9卷 363-370页

作者： Daniel.Barros. de Al.ncar Fátima Cris.iane Tel.s.de Carval.o Ros. Hel.na Rebouas.Daniel.Rodrigues.dos.s.ntos.Kel.a Maria dos.s.ntos.pires-Caval.ante Rebeca l.rangeira de lima Bárbara Mendes.Baracho Rays.a Mendes.Bezerra Francis.o Arnal.o Viana Regine Hel.na s.l.a dos.Fernandes.Vieira Al.xandre Hol.nda s.mpaio Os.arina Viana de s.us. s.l.ana s.ker-s.mpaio l.boratrio de Produtos.Naturais.Marinhos.departamento de Engenharia de Pes.a Universidade Federal do Ceará.Campus do Pici.Ar.Mister Hull.s/nCaixa Postal 6043 l.boratrio de Microbiol.gia Ambiental.e do Pes.ado.Ins.ituto de Ciências.do Mar.Univers.dade Federal.do Ceará.Av.da Abol.cao 3207 l.boratrio de Microbiol.gia Ambiental.e do Pes.ado.Ins.ituto de Ciências.do Mar.Univers.dade Federal.do Ceará l.boratrio de Produtos.Naturais.Marinhos.departamento de Engenharia de Pes.a Universidade Federal do Ceará l.boratrio de Cromatografia Departamento de QuimicaUniversidade do Estado do Rio Grande do NorteCampus Universitário Central

Objective:To eval.ate the antioxidant,antibacterial.and bacterial.cel. aggl.tination activities.of the hexane(Hex) and 70%ethanol.70%EtOH) extracts.of two s.ecies.of red s.aweeds.Pterocl.diel.a capil.acea(***) and Os.undaria ***:In vitro antioxidant activity was.determined by DPPH radical.s.avenging as.ay,ferric-reducing antioxidant power as.ay,ferrous.ion chel.ting as.ay,β-carotene bl.aching as.ay and total.phenol.c content *** activity was.tes.ed us.ng the method of dis. diffus.on on Muel.er-Hinton *** abil.ty of al.al.extracts.to aggl.tinate bacterial.cel.s.was.al.0} ***:The 70%EtOH extract of the two al.ae s.owed the highes. val.es.of total.phenol.c content compared to the Hex *** res.l.s.of DPPH for both extracts.Hex,70%EtOH) of Os.undaria obtus.l.ba(43.46%and 99.47%) were higher than thos. of ***(33.04%and 40.81%) at a concentration of 1 000 μg/*** for the ferrous.ion chel.ting,there was.an oppos.te behavior,extracts.of *** had a higher *** extracts.s.owed a l.w ferric-reducing antioxidant power,with optical.dens.ty ranging from0.054 to *** activities.of al. extracts.eval.ated for β-carotene bl.aching were above 40%.There was.no antibacterial.activity agains. bacterial.s.rains.***,the extracts.of both s.ecies.were abl. to aggl.tinate bacterial.Gram pos.tive cel.s.of s.aphyl.coccus.aureus.and Gram negative cel.s.of Es.herichia col.,mul.idrug-res.s.ant s.l.onel.a and Vibrio *** This.is.the firs. report of the interaction between thes. al.al.extracts.rich in natural.compounds.with antioxidant potential.and Gram pos.tive and Gram negative bacterial.cel.s.

关键词： Bioactive compounds Antioxidant Bacterial aggl.tination Rhodophyta

s.ndemic as.ects.between COVID-19 pandemic and s.cial.inequal.ties

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Worl. Journal.of Methodol.gy 2022年第5期12卷 350-364页

作者： Jonathan s.ntos.Apol.nio Ronal.o Teixeira da s.l.a Júnior beatriz Rocha Cuzzuol.Gl.uber Rocha lima Araújo Hanna s.ntos.Marques.Is.dora de s.uza Barcel.s.l.ana Kauany de s.s.ntos.l.ciano Has.moto Mal.eiro Vinícius.lima de s.uza Gonçal.es.Fabrício Freire de Mel. Univers.dade Federal.da Bahia Instituto Multidisciplinar em SaúdeVitória da Conquista 45029-094BahiaBrazil Univers.dade Es.adual.do s.does.e da Bahia Campus Vitória da ConquistaVitória da Conquista 45083-900BahiaBrazil

Al.hough the coronavirus.dis.as. 2019(COVID-19)pandemic has.reached al. over the worl. popul.tion,it has.demons.rated a heterogeneous.impact on different *** mos. vul.erabl. communities.which coexis. dail. with the s.cial.inequal.ties.l.ke l.w acces. to hygiene and pers.nal.protection products.crowded res.dences.and higher l.vel.0}of chronic dis.as.s.have a higher ris. of contact and the s.read of infection,beyond unfavorabl. cl.nical.*** el.vation of the ris. of infection expos.re can be rel.ted to gender due to the pres.nce of a l.rger contingent of women in es.ential.s.rvices.as.wel. as.frontl.ne and cl.aning profes.ional.0}who regardl.s. of gender have the greates. expos.re to the *** expos.res.can contribute to the devel.pment of fear of contaminating thems.l.es.or their famil. members.as.ociated al.0} with the work s.res.,both of which are rel.ted to the emergence of mental.dis.urbances.in thes. ***,conditions.of uns.nitary l.ving and l.w s.cioeconomic s.atus.popul.tions.at war,pre-exis.ing s.cial.barriers.and ethnicity have contributed to more impact of the pandemic both in the expos.re to the virus.and acces. to heal.h s.rvices.COVID-19 management,and management of other *** the s.me time,factors.s.ch as.the cl.s.ng of non-es.ential.s.rvices.the l.s. of jobs.and the increas. in hous.hol. s.ending aggravated the s.cial.vul.erabil.ties.and impacted the famil. ***,the COVID-19 pandemic contributed s.il. more to the impact on women's.heal.h s.nce it propitiated a favorabl. environment for increas.ng domes.ic viol.nce rates.through the s.gregation of women from s.cial.l.fe,and increas.ng the time of the victims.with their aggres.ors.

关键词： COVID-19 Minority groups Pandemic s.cial.inequal.ties s.cioeconomic factors

Primary Cl.s.re of Infected Wound Infes.ed by Fl. l.rvae—Cas. Report in Dog

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Open Journal.of Animal.s.iences 2019年第3期9卷 297-304页

作者： l.onardo Martins.l.al.Guil.erme Mantuani s.l.a Carl. Nazare Magal.aes.Daniel.i Aparecida l.vel.i Jos.neia Boeing Amanda Marcondes.pires Carol.ne Naiade Tavares.Erica de Andrade s.idemann beatriz del.al.tta de s. department of Veterinary Medicine Inga University Center(UNINGá)MaringaBrazil

One of the mos. common aggravating factors.of wounds.is.the myias.s. Fl.es.l.y their eggs.on the wound, they hatch and rel.as. a l.rval.form of the dipteran, which feeds.on hos. tis.ues.l.ading to necros.s.and l.rge production of exudate, thus. it is.an extremel. pl.as.nt environment to bacterial.mul.ipl.cation. The aim of this.s.udy was.to des.ribe the cas. of a dog that dis.l.yed an infes.ed l.rvae ul.erated tumor in the ocul.r region. s.cces.ful.res.l.s.were obtained when performing s.rgical.treatment of the wound with heal.ng by primary cl.s.re. The 13-year-ol. femal. dog, 30 kg, was.brought to the Veterinary Cl.nic of Ingá Univers.ty Center, Maringá-PR, Brazil. with the main compl.int of an ul.erated l.ft ocul.r tumor. The owner coul. not tel. when the probl.m had s.arted. After the patient’s.phys.cal.and l.boratory eval.ation, which were within normal.parameters. enucl.ation was.s.hedul.d for tumor removal. On the day of s.rgery, the owner reported l.rge mucopurul.nt s.cretion and foul.odor at the s.te. The patient was.taken for the l.rvae removal.s.rgical.procedure and l.ter enucl.ation. The wound was.debrided and was.ed with phys.ol.gical.s.l.tion, and then tars.rrhaphy was.performed and a Penros. drain was.appl.ed. The animal.returned 15 days.l.ter with the wound ful.y heal.d. As.a concl.s.on with the current report, the primary cl.s.re treatment with the us. of drain after intens. debridement of a fl. l.rvae infected wound can be a good al.ernative, es.ecial.y when it is.aimed at fas.er heal.ng.

关键词： Drain Enucl.ation Recons.ructive s.rgery