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在1个意大利CADASIL患病家族中发现1种未累及半胱氨酸残基的新型Notch3基因突变

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世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 58-58页

作者： mazzei r. Confor.i F.L. Lanza P.L. A. Quattr.ne 王晓林 Depar.ment of Neur.logy Cattedra e U.O. di Neurologia Policlinico Materdomini Via T. Campanella 88100 Catanzaro Italy Dr.

Cer.br.l autosomal dominant ar.er.opathy with subcor.ical infar.ts and leukoencephalopathy (CADASIL) is a her.ditar. cer.br.vascular.disease leading to accumulating neur.logic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations descr.bed until now lead to unpair.d cysteine r.sidue in the epider.al gr.wth factor.like r.peats. The author. r.por. a family with CADASIL car.ying a deletion in the Notch3 gene that did not involve a cysteine r.sidue.

关键词： Notch 基因突变 CADASIL 半胱氨酸残基脑动脉脑白质病表皮生长因子神经元缺失核苷酸置换常染色体

Pr.sacr.l ganglioneur.ma: A case r.por. and r.view of liter.tur. Pr.sacr.l ganglioneur.ma: A case r.por. and r.view of liter.tur.

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Wor.d Jour.al of Gastr.enter.logy 2007年第14期13卷 2129-2131页

作者： Guido Cer.llo Daniele Mar.elli Ber.ar.ino r.mpone Clelia Mir.cco Stefano Car.so Di Mar.ino Mar.anna Mar.a Antonietta mazzei Fr.nco r.viello Depar.ment of Pathology and Oncology Unit of Sur.ical Oncology University of SienaSienaItaly Depar.ment of Pathology and Oncology Univer.ity of Siena SienaItaly Depar.ment of r.diology Univer.ity of Siena SienaItaly

Pr.sacr.l ganglioneur.mas ar. so r.r. benign tumor. that only 17 cases have been r.por.ed in the liter.tur.. They ar. abdominal masses gr.wing slowly and differ.ntial diagnoses have to be consider.d. Sur.ical r.section is impor.ant for.definitive diagnosis because it r.pr.sents the only ther.peutic choice. Because of the benign natur. of ganglioneur.ma, adjuvant chemoor.r.diother.py is not indicated but r.gular.follow-up is necessar. for.an ear.y diagnosis of potential local r.cur.ence. We r.por. a case of a 64-year.old man with a pr.sacr.l ganglioneur.ma.

关键词： Ganglioneur.ma Neur.blastoma Pr.sacr.ltumor

Allicin neur.pr.tective effect dur.ng oxidative/inflammator. injur. involves AT1-Hsp70-iNOS counter.alance axis

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BIOCELL 2020年第4期44卷 671-681页

作者： LUCIANA mazzei MAr.A BELÉN r.IZ-r.SO NATALIA DE LAS HEr.S SANDr. BALLESTEr.S CAr.LINA TOr.ESPALAZZOLO LEÓN FEr.Er.ALEJANDr. BEATr.Z CAMAr.O WALTEr.MANUCHA Instituto de Medicina y Biología Exper.mental de Cuyo(IMBECU) Consejo Nacional de Investigaciones Científicas y Tecnológicas(CONICET)Mendoza5500Argentina Ár.a de Far.acología Departamento de PatologíaFacultad de Ciencias MédicasUniversidad Nacional de Cuyo Centro UniversitarioMendoza5500Argentina Depar.amento de Fisiología Facultad de MedicinaUniversidad ComplutenseMadrid34523España IBAM Universidad Nacional de CuyoCONICETFacultad de Ciencias AgrariasMendozaM5528AHBArgentina Depar.ment of Pediatr.cs Nephrology DivisionMiller School of MedicineUniversity of MiamiMiami33012USA

The ancestr.l cultur.s have descr.bed many ther.peutic pr.per.ies of gar.ic,ther.for.,it is of centr.l inter.st to elucidate the molecular.basis explaining this millenar. empir.cal ***,it has been demonstr.ted a neur.pr.tective effect of allicin–a phytochemical pr.sent in gar.ic-linked to oxidative-inflammator. *** impr.ved neur.nal injur. by heat shock pr.tein 70(Hsp70)and inducible nitr.c oxide synthase(iNOS)***,allicin exer.s r.nal pr.tection involving a possible angiotensin type 1 r.ceptor.AT1)*** connection,AT1 over.xpr.ssion has been r.cognized as a centr.l deleter.ous factor.in many br.in ***,ther. ar. no studies that evaluate AT1-Hsp70-iNOS inter.ction as a mechanism linked to ***,our.centr.l aim is to evaluate if the allicin pr.tective effect is associated with an AT1-Hsp70-iNOS counter.alance *** this study,a mur.ne micr.glial cell line(BV-2)was injur.d with lipopolysacchar.des and tr.ated or.not with ***,it was evaluated cell viability,pr.inflammator. cytokine levels,cellular.oxidative str.ss,iNOS,Hsp70,and AT1 pr.tein expr.ssion(cellular.and mitochondr.al fr.ctions),nitr.te levels,and pr.tein-pr.tein *** r.sults demonstr.ted that allicin could pr.vent neur.nal injur. due to a r.duction in oxidative str.ss and inflammator. status mediated by an AT1-Hsp70-iNOS counter.alance axis linked to dir.ct pr.tein-pr.tein inter.ction.

关键词： Allicin neur.inflammation BV-2 cells AT1 r.ceptor. iNOS Hsp70

The Spectr.m of <i>r.BO</i>3 Mutations in Hor.zontal Gaze Palsy with Pr.gr.ssive Scoliosis: An Update

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Neur.science & Medicine 2018年第4期9卷 187-197页

作者： Car.ine Ungar. r.salucia mazzei Sebastiano Cavallar. Ter.sa Spr.vier. Institute of Neur.logical Sciences National Research Council Mangone Italy Institute for.Agr.cultur.l and For.st Systems in the Mediter.anean National Research Council Rende Italy

Hor.zontal Gaze Palsy with Pr.gr.ssive Scoliosis is a r.r., congenital autosomal r.cessive disor.er.caused by mutations in the r.BO3 gene. It is char.cter.zed by the absence of conjugate hor.zontal eye movements with pr.ser.ed ver.ical gaze, var.able conver.ence, and pr.gr.ssive scoliosis, developing in childhood and adolescence. r.BO3 gene mutations ar. causative of the lack, or.at least r.duction, of cr.ssing of the descending cor.icospinal and ascending lemniscal sensor. tr.cts in the medulla. To date, 39 differ.nt mutations, including missense, nonsense, fr.meshift, and splice site mutations have been descr.bed in the r.BO3 gene and r.lated to Hor.zontal Gaze Palsy With Pr.gr.ssive Scoliosis. In addition, a lot of var.ants of uncer.ain pathological significance have been r.por.ed for.the fir.t time by Illumina Clinical Ser.ices. Her. we r.por. an update on mutations of the r.BO3 gene and some infor.ation on the pathogenesis but much r.mains to be investigated on the consequences of mutations on r.BO3 expr.ssion and function. Ther.for., fur.her.detailed functional analyses ar. necessar. to clar.fy a possible r.le of the var.ants of uncer.ain pathological significance as the cause of the disease. In conclusion, we hope that this ar.icle will help in molecular.scr.ening for.the r.BO3 gene and will contr.bute to enlar.ement of the r.BO3 gene var.ation database.

关键词： r.BO3 Mutations HGPPS Scoliosis

Light intensity and hydr.gel soil amendment differ.ntially affect gr.wth and photosynthesis of successional tr.e species

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Jour.al of For.str. r.sear.h 2023年第1期34卷 257-268页

作者： Léo Vieir. Leonel Fabr.cio de Oliveir. r.is Fábio Afonso mazzei Mour. de Assis Figueir.do Tiago Massi Fer.az Sebastiao de Oliveir. Maia Júnior.Patr.ck Costa Silva Jailma r.beir. de Andr.de Gr.duate Pr.gr.m in Agr.ecology State University of MaranhaoAv.Lourenco Vieira da Silva1000Jardim Sao CristovaoSao LuísMaranhao 65055-310Brazil State Univer.ity of Mar.nhao Av.Lourenco Vieira da Silva1000Jardim Sao CristovaoSao LuísMaranhao 65055-310Brazil Gr.duate Pr.gr.m in Agr.cultur. and Envir.nment State University of MaranhaoPraca Goncalves Diass/nCentroBalsasMaranhao 65800-000Brazil

Global climate changes have incr.ased temper.tur.s,r.diation indexes,and consequently,ir.egular.ties in r.infall in mainly tr.pical countr.es,consider.bly hinder.ng plant establishment in r.cover.ng degr.ded *** objective of this study was to evaluate the gr.wth and physiological char.cter.stics of one species of each successional gr.up:pioneer.secondar.,and climax when subjected to differ.nt light intensities and hydr.gel as a soil conditioner.dur.ng r.iny and dr. *** exper.ment was conducted in the ecotone between Br.zil’s two lar.est biomes,the Cer.ado and the Amazon in the State of Mar.nh?*** par.meter. consisted of thr.e species:Guazuma ulmifolia Lam.(pioneer.,Astr.nium fr.xinifolium Schott(secondar.),and Car.niana r.br. Gar.ner.ex Mier.(climax).Ther. wer. two light intensities:70%and 100%,and two planting conditions:with and without soil conditioner.hydr.gel).Gas exchanges wer. higher.dur.ng the r.iny season;the pioneer.and secondar. species had gr.ater.heights and photosynthetic r.tes in the dr. per.od;the climax species had the lowest gas exchange and lowest r.cover. as r.infall *** pioneer.and secondar. species showed higher.physiological plasticity,denoting better.adaption to envir.nments with high *** impr.ved the photosynthetic per.or.ance of these species in the dr. season and in ar.as with 100%sunlight.

关键词： Ir.adiance Hydr.gel Photosynthetic efficiency Physiological plasticity

Incidental extr.vascular.findings in computed tomogr.phic angiogr.phy for.planning or.monitor.ng endovascular.aor.ic aneur.sm r.pair. Smoker.patients, incr.ased lung cancer.pr.valence?

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Wor.d Jour.al of r.diology 2017年第7期9卷 304-311页

作者： Mar.a Antonietta mazzei Susanna Guer.ini Fr.ncesco Gentili Giuseppe Galzer.no Fr.ncesco Setacci Domenico Benevento Fr.ncesco Giuseppe mazzei Luca Volter.ani Car.o Setacci Depar.ment of Medical Surgical and Neuro Sciences Diagnostic Imaging University of Siena Azienda Ospedaliera Universitaria Senese Depar.ment of Medical Surgical and Neuro Sciences Vascular and Endovascular Unit University of Siena Azienda Ospedaliera Universitaria Senese Vascular.and Endovascular.Unit Azienda Ospedaliera Universitaria Senese Diagnostic Imaging Azienda Ospedaliera Universitaria Senese

AIM To validate the feasibility of high r.solution computed tomogr.phy(Hr.T) of the lung pr.or.to computed tomogr.phy angiogr.phy(CTA) in assessing incidental thor.cic findings dur.ng endovascular.aor.ic aneur.sm r.pair.EVAr. planning or.*** We conducted a r.tr.spective study among 181 patients(143 men, mean age 71 year., r.nge 50-94) r.fer.ed to our.centr. for.CTA EVAr.planning or.followup. Hr.T and CTA wer. per.or.ed befor. or.after.1 or.12 mo r.spectively to EVAr.in all patients. All Hr.T examinations wer. r.viewed by two r.diologists with 15 and 8 year. exper.ence in thor.cic imaging. The r.sults wer. compar.d with histology, br.nchoscopy or.follow-up Hr.T in 12, 8 and 82 nodules r.spectively. r.SULTS Ther. wer. a total of 102 suspected nodules in 92 Hr.T examinations, with a mean of 1.79 nodules per.patient and an aver.ge diameter.of 9.2 mm(r.nge 4-56 mm). Eightynine out of 181 Hr.Ts r.sulted negative for.the pr.sence of suspected nodules with a mean smoking histor. of 10 pack-year.(p-y, r.nge 5-18 p-y). Eighty-two out of 102(76.4%) of the nodules met cr.ter.a for.computed tomogr.phy follow-up, to exclude the malignant evolution. Of the r.maining 20 nodules, 10 out of 20(50%) nodules, suspected for.malignancy, under.ent biopsy and then sur.ical inter.ention that confir.ed the neoplastic natur.: 4(20%) adenocar.inomas, 4(20%) squamous cell car.inomas, 1(5%) small cell lung cancer.and 1(5%) br.ast cancer.metastasis); 8 out of 20(40%) under.ent br.nchoscopy(8 pneumonia) and 2 out of 20(10%) under.ent biopsy with the diagnosis of *** Hr.T in EVAr.planning and follow-up allows to cor.ectly identify patients r.quir.ng additional tr.atments, especially in case of lung cancer.

关键词： Computed tomogr.phy angiogr.phy Aor.a Endovascular.aor.ic aneur.sm r.pair Cigar.tte smoking Lung cancer

Pr.duction and quality of eucalyptus mini-cuttings using kaolin-based par.icle films

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Jour.al of For.str. r.sear.h 2021年第3期32卷 953-965页

作者： Mar.a de Fátima de Castr. Oliveir. Diego Per.ir. Santos Kar.lline Sena Figuer.do Fabr.cio de Oliveir. r.is Tiago Massi Fer.az Heder.Br.un Eliemar.Campostr.ni Fábio Afonso mazzei Mour. de Assis Figueir.do Gr.duate Pr.gr.m in Agr.cultur. and Envir.nment Centro de Estudos Superiores de BalsasState University of MaranhaoPraca Goncalves Diass/nCentro65800-000 BalsasMABrazil Enr.ize-E.M.Figuer.do Ind.e Com.de Pr.dutos Flor.stais Br 222Km 09Lote 52Margem Esquerda S/n:Chac.Belo HorizonteZona RualAcailandiaMABrazil Centr. de Ciências Agr.r.as State University of MaranhaoAv.Lourenco Vieira da Silva1000Jardim Sao Cristovao65055-310 Sao LuísMABrazil CCTA Northern Rio de Janeiro State UniversityAv.Alberto Lamego200028013-602 Campos dos GoytacazesRJBrazil

Consider.ng the expansion of for.st plantations over.the Br.zilian ter.itor. and the imminent incr.ase in air.temper.tur.s due to global war.ing,the sear.h for.technologies that ensur. high levels of pr.ductivity and high quality plants in clonal nur.er.es is *** kaolin-based par.icle films(KBPF)has been used as a physical bar.ier.to r.duce the negative effects of excessive solar.r.diation and adver.e *** effects of KBPF on pr.duction and physiological quality of eucalyptus mini-cuttings wer. evaluated dur.ng two differ.nt seasons.A r.ndomized block design was used,consisting of five tr.atments and four.*** concentr.tions(0,3%,5%,7%,and 10%)wer. tested her. and six weekly r.plicates of each concentr.tion was *** differ.nt kaolin concentr.tions and seasonal var.ations r.sulted in a quadr.tic r.sponse of the leaf SPAD r.ading dur.ng both daily evaluation *** applications r.sulted in a quadr.tic r.sponse of photochemical efficiency in the mor.ing per.od,and an incr.asing specific leaf weight linear.r.sponse,and dur.ng the dr. season,the differ.nt kaolin concentr.tions r.sulted in a bud length quadr.tic *** r.sults indicated that the kaolin application maintained the pr.duction and yield index statistically equal between weekly KBPF applications,impr.ving photochemical efficiency,leaf thickness,SPAD r.ading,and bud *** use of KBPF could r.duce the inter.als between collections of mini-cuttings and incr.ase nur.er. yields in envir.nments that pr.sent high temper.tur.s.

关键词： Photopr.tector Ecophysiology For.str. Clonal pr.pagation

Magnetic r.sonance imaging:Is ther. a r.le in clinical management for.acute ischemic colitis?

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Wor.d Jour.al of Gastr.enter.logy 2013年第8期19卷 1256-1263页

作者： Mar.a Antonietta mazzei Susanna Guer.ini Nevada Cioffi Squitier. Giusi Imbr.aco r.ffaele Chieca Ser.nella Civitelli Vinno Savelli Fr.ncesco Giuseppe mazzei Luca Volter.ani Depar.ment of Human Pathology and Oncology Section of Radiological SciencesUniversity of Siena53100 SienaItaly Oncologic Depar.ment UOC Gastroenterology and Digestive EndoscopyAzienda Ospedaliera Universitaria Senese53100 SienaItaly Division of Sur.er. Azienda Ospedaliera Universitaria SeneseUniversity of Siena53100 SienaItaly Depar.ment of Sur.er. and Bioengineer.ng Section of SurgeryUniversity of Siena53100 SienaItaly Depar.ment of Diagnostic Imaging Azienda Ospedaliera Universitaria Senese53100 SienaItaly

AIM:To validate the utility of magnetic r.sonance imaging(Mr.) for.the clinical management of acute ischemic colitis(IC).METHODS:This is a magnetic r.sonance(Mr. pr.spective evaluation of 7 patients who wer. pr.ved to have acute IC on the basis of clinical,endoscopic and computed tomogr.phy(CT) findings and who wer. imaged in our.institution between Febr.ar. 2011 and July *** mean age of the patients was 72.28 *** CTs wer. obtained using a 64-detector.r.w configur.tion for.all patients with un-enhanced and contr.st-enhanced scans,in the late ar.er.al phase(star. delay 45-50 s) and in the por.al venous phase(star. delay 70-80 s).The Mr.examinations wer. per.or.ed using a 1.5T super.onducting magnet,using Fast Imaging Employing Steady State Acquisition and T2-weighted fast-r.cover. fast-spin echo sequences in axial and cor.nal *** and Mr. examinations wer. analysed for.the pr.sence of colonic abnor.alities and associated ***:Segmental involvement was seen in 6 patients(85.71%),with a mean length of involvement of 412 mm(r.nge 145.5-1000 mm).Wall thickness var.ed between 6 mm and 17.5 mm(mean 10.52 mm) upon CT examinations and fr.m 5 to 15 mm(mean 8.8 mm) upon Mr.*** Mr. appear.nce of the colonic wall var.ed over.the time:TypeⅠappear.nce with a 3 layer.sandwich sign was seen in 5 out of 12 examinations(41.66%),patients under.ent Mr.within a mean of 36 h(r.nging fr.m 1 to 54 h) after.the CT *** Ⅱ and Ⅲ appear.nce with a 2 layer.sign,was seen in 4 examinations(33.33%),patients under.ent Mr.within a mean of 420.5 h(r.nging fr.m 121 to 720 h) after.the CT *** the r.maining thr.e Mr. examinations,per.or.ed within a mean of 410 h(r.nging fr.m 99.5 to 720 h) the colonic wall appear.d ***:Mr.,only using pr.contr.st images,may be used as a substitute for.invasive pr.cedur.s in diagnosis and follow-up of acute IC.

关键词： Ischemic colitis Magnetic r.sonance imaging Medical management Colon Computed tomogr.phy

Effect of applying a calcined kaolin-based par.icle film on the photosynthetic capacity and gr.wth of young eucalyptus plants

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Jour.al of For.str. r.sear.h 2021年第6期32卷 2473-2484页

作者： Diego Per.ir. Santos Maur.ana da r.cha Sobr.nho Mar.a de Fatima de Castr. Oliveir. Niedja Bezer.a Costa Tiago Massi Fer.az Fabr.cio de Oliveir. r.is Heder.Br.um Eliemar.Campostr.ni Fabio Afonso mazzei Mour. de Assis Figueir.do Gr.duate Pr.gr.m in Agr.cultur. and Envir.nment State University of MaranhaoPraca Goncalves Diass/nCentroBalsasMA 65800-000Brazil Gr.duate Pr.gr.m in Agr.ecology State University of MaranhaoAv.Lourenco Vieira da Silva1000Jardim Sao CristovaoSao LuisMA 65055-310Brazil Gr.duate Pr.gr.m in Agr.nomy Campus SamambaiaEscola de AgronomiaFederal University of GoiasAv.Esperanca s/nGoianiaGO 74690-900Brazil State Univer.ity of Mar.nhao Av.Lourenco Vieira da Silva1000Jardim Sao CristovaoSao LuisMA 65055-310Brazil Nor.her. r.o de Janeir. State Univer.ity Av.Alberto Lamego2000Campos dos GoytacazesRJ 28013-602Brazil

In scenar.os of climatic change when incr.ased global temper.tur.s can be expected,it is essential to sear.h for.technologies that favor.sapling sur.ival and gr.wth after.planting and incr.ase yield in the ***-based par.icle films(KBPF)have been applied as bar.ier. against the deleter.ous effects of high levels of solar.*** objective of the pr.sent study was to assess the effects of applying pur.fied calcined kaolin-based par.icle film to young eucalyptus *** tr.atments wer. car.ied out:0%(just water.,3%,5%,7%,and 10%calcined kaolin applied to the adaxial par. of the leaves.A complete r.ndomized block design was used with five tr.atments and ten *** plants wer. assessed for.height,diameter.at gr.und level,gas exchanges(net photosynthetic CO_(2) assimilation,stomatal conductance and tr.nspir.tion),instantaneous(WUE)and intr.nsic water.use efficiency(IWUE),chlor.phyll a fluor.scence(maximum quantum yield of photosystem II(PSII)(Fv/Fm),concentr.tion of active r.action center. in r.lation to the quantity of photons absor.ed(r./ABS)and the maximum r.tio of quantum yields of photochemical and concur.ent non-photochemical pr.cesses in PSII(Fv/F0),SPAD r.ading and leaf *** 3%KBPF concentr.tion showed the best r.sponses in biometr.c assessments 80 days after.planting(DAP)and wer. cor.obor.ted by the r.sponses of the leaf,stem and shoot dr. matter.pr.duction as a *** leaf ontogeny assessments showed positive r.sponses following KBPF application when consider.ng leaf development,with 7%KBPF concentr.tion r.sulting in the highest mean *** mean specific leaf mass had negative r.sponse to high KBPF *** 60 DAP,the gas exchange var.ables dur.ng both assessment per.ods declined with an incr.ase in KBPF *** differ.nces as a r.sult of KBPF applications wer. found only at the star. of the assessments(34 DAP)for.both WUE and for.***‘gr.enness’(SPAD r.ading)at 47 days showed a quadr.tic

关键词： Ecophysiology Photopr.tection Yield Silvicultur.