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Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility

Journal of Genetics and Genomics 2021年第6期48卷 497-507页

作者： Miriam Zuccala Nadia Barizzone Elena Boggio Luca Gigliotti Melissa Sorosina Chiara Basagni Roberta Bordoni Ferdinando Clarelli Santosh Anand Eleonora Mangano Domizia Vecchio Elena Corsetti Serena Martire Simona Perga Daniela Ferrante Alberto Gajofatto Andrei Ivashynka Claudio Solaro Roberto Cantello Vittorio Martinelli Giancarlo Comi Massimo Filippi Federica Esposito Maurizio Leone Gianluca De Beilis Umberto Dianzani Filippo Martinelli-Boneschi Sandra D’Alfonso Department of Health Sciences Center on Autoimmune and Allergic Diseases(CAAD)UPOUniversity of Eastern PiedmontA.AvogadroNovara 28100Italy Consorzio Interuniversitario di Biotecnologie(CIB) Trieste 34149Italy Laboratory of Human Genetics of Neurological Disorders Institute of Experimental NeurologyDivision of NeurosciencesIRCCS San Raffaele Scientific InstituteMilan 20132Italy National Research Council of Italy Institute for Biomedical TechnologiesSegrateMilan 20090Italy Department of Genetic Medicine and Development(GEDEV) Faculty of MedicineUniversity of Geneva Medical SchoolGeneva 1211Switzerland Department of Informatics Systems and Communications(DISCo)University of Milano-BicoccaMilan 20126Italy MS Centre SCDU NeurologyAOU Maggiore della CaritàNovara 28100Italy Department of Translational Medicine Interdisciplinary Research Center of Autoimmune Diseases(IRCAD)University of Eastern PiedmontNovaraAvogadro UniversityNovara 28100Italy Neuroscience Institute Cavalieri Ottolenghi OrbassanoTurin 10043Italy Neurobiology Unit Neurology-CReSM(Regional Referring Center of Multiple Sclerosis)AOU San Luigi GonzagaOrbassanoTurin 10043Italy Department of Neuroscience‘Rita Levi Montalcini’ University of TurinTurin 10126Italy Department of Neuroscience Biomedicine and Movement SciencesUniversity of VeronaVerona 37134Italy UO Neurologia Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni RotondoFoggia 71013Italy Centro Recupero e Rieducazione Funzionale“Mons L Novarese” Moncrivello(VC)13040Italy Department of Neurology IRCCS San Raffaele Scientific InstituteMilan 20132Italy Neuroimaging Research Unit Institute of Experimental NeurologyDivision of NeuroscienceIRCCS San Raffaele Scientific InstituteMilan 20132Italy Vita-Salute San Raffaele University Milan 20138Italy Neurophysiology Unit IRCCS San Raffaele Scientific InstituteMilan 20138Italy Dino Ferrari Centre Neuroscience SectionDepartment of Pathophysiology and Transplantation(DEPT)University of MilanMilan 20122

Among multiple sclerosis(MS)susceptibility genes,the strongest non-human leukocyte antigen(HLA)signal in the Italian population maps to the TNFSF14 gene encoding LIGHT,a glycoprotein involved in dendritic cell(DC)*** fine-mapping in a large Italian dataset(4,198 patients with MS and3,903 controls),we show that the TNFSF14 intronic SNP rs1077667 is the primarily MS-associated variant in the *** quantitative trait locus(e QTL)analysis indicates that the MS risk allele is significantly associated with reduced TNFSF14 messenger RNA levels in blood cells,which is consistent with the allelic imbalance in RNA-Seq reads(P<0.0001).The MS risk allele is associated with reduced levels of TNFSF14 gene expression(P<0.01)in blood cells from 84 Italian patients with MS and 80 healthy controls(HCs).Interestingly,patients with MS are lower expressors of TNFSF14 compared to HC(P<0.007).Individuals homozygous for the MS risk allele display an increased percentage of LIGHT-positive peripheral blood myeloid DCs(CD11 c+,P=0.035)in 37 HCs,as well as in in vitro monocyte-derived DCs from 22 HCs(P=0.04).Our findings suggest that the intronic variant rs1077667 alters the expression of TNFSF14 in immune cells,which may play a role in MS pathogenesis.

关键词： Multiple sclerosis TNFSF14 LIGHT Fine-mapping analysis SNV

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Antiplasmodial,cytotoxic activities and characterization of a new naturally occurring quinone methide pentacyclic triterpenoid derivative isolated from Salacia leptoclada Tul.(Celastraceae)originated from Madagascar

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Asian Pacific Journal of Tropical Biomedicine 2013年第10期3卷 780-784页

作者： Fatiany Pierre Ruphin Robijaona Baholy Randrianarivo Emmanuel Raharisololalao Amelie Marie-Therese Martin Ngbolua Koto-te-Nyiwa Department of Organic Chemistry Faculty of SciencesP.O.Box 187.University of Toliara601 Toliara Madagascar Malagasy Institute of Applied Research Avarabohitra Itaosy lot AVB 77.P.O.BOX 3833102 Antananarivo Madagascar Department of Organic Chemistry Faculty of SciencesP.O.Box 906 University of Antananarivo101 AntananarivoMadagascar Institute of Natural Products Chemistry National Centre for Scientific Research CNRS 91198Gif Sur Yvette-ParisFrance Department of Biology Faculty of ScienceUniversity of KinshasaP.O.BOX 190 Kinshasa XIDemocratic.Republic of the Congo

Objective:To validate scientifically the traditional use of Salacia leptoclada Tul.(Celastraceae)(***)and to isolate and elucidate the structure of the biologically active ***:Bioassay-guided fractionation of the acetonic extract of the stem barks of *** was carried out by a combination of chromatography technique and biological experiments in viro using Plasmodium falciparum and P388 leukemia cell lines as *** structure of the biologically active pure compound was elucidated by 1D and 2D NMR spectroscopy and mass ***:Biological screening of *** extracts resulted in the isolation of a pentacyclic triterpenic quinone *** pure compound exhibited both in vitro a cytotoxic effect on murine P388 leukemia cells with IC_(50)value of(0.041±0.020)μg/mL and an antiplasmodial activity against the chloroquine-resistant strain FC29 of Plasmodium falciparum with an IC_(50)value of(0.052±0.030)μg/*** this interesting anti-malarial property of the lead compound,the therapeutic index was weak(0.788).In the best of our knowledge,the quinone methide pentacyclic triterpenoid derivative compound is reported for the first time in ***:The results suggest that furthers studies involving antineoplastic activity is needed for the development of this lead compound as anticancer drug.

关键词： Salacia leptoclada Quinone methide Malaria Therapeutic index Cancer Madagascar

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壳聚糖金属盐抑菌效果研究

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浙江林学院学报 2006年第1期23卷 89-93页

作者：毛胜凤孙芳利段新芳文桂峰浙江林学院林业与生物技术学院浙江临安311300 浙江林学院工程学院浙江临安311300 中国林业科学研究院木材工业研究所北京100091

采用抑菌圈法研究了壳聚糖金属盐防霉剂对木霉Trichoderma viride,青霉Penicillamcitrinum,黑曲霉Aspergillus niger,黄曲霉Aspergillus flavus以及酵母菌Microzymesp.的抑菌作用,并筛选出最佳抑菌质量分数。结果表明壳聚糖铜盐对于所... 详细信息

采用抑菌圈法研究了壳聚糖金属盐防霉剂对木霉Trichoderma viride,青霉Penicillamcitrinum,黑曲霉Aspergillus niger,黄曲霉Aspergillus flavus以及酵母菌Microzymesp.的抑菌作用,并筛选出最佳抑菌质量分数。结果表明壳聚糖铜盐对于所选菌种的抑制效果高于其他几种试剂,且抑制持续性也较长;质量分数为20.0 ***-1时,壳聚糖对木霉和酵母菌的抑菌效果特别明显,且抑制持续性也最长;壳聚糖锌盐对木霉和酵母菌的抑菌效果高于硼酸;硼酸只对黑曲霉有较长的抑制持续性。

关键词：林业工程抑菌剂抑菌试验壳聚糖壳聚糖金属盐

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Migration of Biodegradable Organic Matter in Underlying Soils of Household Waste Dumpsites: A Case Study in Abomey-Calavi, Benin

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Journal of Crystallization Process and Technology 2018年第1期8卷 18-32页

作者： Metogbe B.Djihouessi Sofiath Onifade Martin P.Aina Hervé E.Labité Francois de Paule Codo Laboratoire des Sciences et Techniques de l’Eau(LSTE) Institut National de l’EauUniversitéd’Abomey-Calavi(UAC)CotonouBénin Institut National de l’Eau(INE) Universitéd’Abomey-Calavi(UAC)CotonouBénin

This paper presented the first part of the studies about the development of a tool for groundwater contamination prediction, conducted by the Laboratory of Sciences and Technology of Water (UAC/Benin). The investigation made consisted in estimating the combined effect of retardation factor and biodegradation on migration processes of leachate, in the underlying soils of household waste dumpsites, without active safety barrier. Leachate infiltration tests for different initial conditions were made on soil columns and the breakthrough curves were traced for electrical conductivity, the 5 day biochemical oxygen demand (BOD5) and total kjeldahl nitrogen TKN. A mathematical migration model was developed and solved numerically by finite difference method and implemented with Matlab R2013a. Thus, the calibration of the model was made with electric conductivity data by determining the dispersion coefficient of the studied soils (D = 0.96 cm2/min). Simulations for model verification showed that the established model can perfectly predict the migration of biodegradable organic pollution (BOD5) but did not give conclusive results for the monitoring of nitrogenous organic matter (TKN). The influence of the retardation factor on the migration of biodegradable organic pollutants in soils was linear, while the biodegradation rate of the organic material on migration showed an exponential pattern.

关键词： Waste Dumpsites Pollutants Biodegradability Soil Dispersion Column Test Biodegradable Organic Pollution Nitrogenous Organic Matter

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Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers

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Translational Neurodegeneration 2020年第2期9卷 309-321页

作者： Julia Remnestål Linn Oijerstedt Abbe Ullgren Jennie Olofsson Sofia Bergström Kim Kultima Martin Ingelsson Lena Kilander Mathias Uhlén Anna Månberg Caroline Graff Peter Nilsson Division of Affinity Proteomics Department of Protein ScienceKTH Royal Institute of TechnologySciLifeLabTomtebodavägen 23 AAlpha 217165 SolnaStockholmSweden Swedish FTD Initiative StockholmSweden Division of Neurogeriatrics Centre for Alzheimer ResearchDepartment of NeurobiologyCare Sciences and SocietyKarolinska Institutet17164SolnaSweden Unit for hereditary dementias Theme AgingKarolinska University HospitalStockholmSweden Department of Medical Sciences Clinical ChemistryUppsala UniversityUppsalaSweden Department of Public Health and Caring Sciences GeriatricsUppsala UniversityUppsalaSweden Department of Neuroscience Karolinska InstitutetSolnaSweden

Background The clinical presentations of frontotemporal dementia(FTD)are diverse and overlap with other neurological *** are,as of today,no biomarkers in clinical practice for diagnosing the ***,we aimed to find protein markers in cerebrospinal fluid(CSF)from patients with FTD,presymptomatic mutation carriers and *** Antibody suspension bead arrays were used to analyse 328 proteins in CSF from patients with behavioural variant FTD(bvFTD,n=16)and progressive primary aphasia(PPA,n=13),as well as presymptomatic mutation carriers(PMC,n=16)and non-carriers(NC,n=8).A total of 492 antibodies were used to measure protein levels by direct labelling of the CSF *** findings were further examined in an independent cohort including 13 FTD patients,79 patients with Alzheimer’s disease and 18 healthy *** We found significantly altered protein levels in CSF from FTD patients compared to unaffected individuals(PMC and NC)for 26 *** analysis show patterns of separation between unaffected individuals and FTD patients,especially for those with a clinical diagnosis of *** most statistically significant differences in protein levels were found for VGF,TN-R,NPTXR,TMEM132D,PDYN and *** with FTD were found to have higher levels of TN-R and NF-M,and lower levels of VGF,NPTXR,TMEM132D and PDYN,compared to unaffected *** main findings were reproduced in the independent *** In this pilot study,we show a separation of FTD patients from unaffected individuals based on protein levels in *** investigation is required to explore the CSF profiles in larger cohorts,but the results presented here has the potential to enable future clinical utilization of these potential biomarkers within FTD.

关键词： Frontotemporal dementia Cerebrospinal fluid Biomarkers Proteomics Antibody suspension bead array

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Systematics of the avian family Alaudidae using multilocus and genomic data

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Avian Research 2023年第2期14卷 137-152页

作者： Per Alstrom Zeinolabedin Mohammadi Erik D.Enbody Martin Irestedt Derek Engelbrecht Pierre-Andre Crochet Alban Guillaumet Loïs Rancilhac B.Irene Tieleman Urban Olsson Paul F.Donald Martin Stervander Animal Ecology Department of Ecology and GeneticsEvolutionary Biology CentreUppsala UniversityNorbyvagen 18DSE-75236UppsalaSweden Key Laboratory of Zoological Systematics and Evolution Institute of ZoologyChinese Academy of SciencesBeijing100101China Department of Biology Faculty of SciencesGolestan UniversityGorganGolestanIran Department of Medical Biochemistry and Microbiology Uppsala University75123UppsalaSweden Department of Biomolecular Engineering University of CaliforniaSanta Cruz95060Santa CruzCAUSA Department of Bioinformatics and Genetics Swedish Museum of Natural HistoryP.O.Box 50007SE-10405StockholmSweden Department of Biodiversity University of LimpopoPrivate Bag X1106Sovenga0727South Africa CEFE CNRSUniv MontpellierEPHEIRDMontpellierFrance Department of Biological&Environmental Sciences Troy UniversityTroyAL36082USA Groningen Institute for Evolutionary Life Sciences University of GroningenNijenborgh 79747 AGGroningenthe Netherlands Department of Biological and Environmental Sciences University of GothenburgP.O.Box 463SE-40530GothenburgSweden Gothenburg Global Biodiversity Centre P.O.Box 461SE-40530GothenburgSweden BirdLife International The David Attenborough BuildingPembroke StCambridgeCB23QZUK Department of Zoology University of CambridgeDowning StreetCambridgeCB23EJUK Bird Group Natural History MuseumAkeman StreetTringHertfordshireHP236APUnited Kingdom

The family Alaudidae,larks,comprises 93-100 species(depending on taxonomy)that are widely distributed across Africa and Eurasia,with single species extending their ranges to North and northernmost South America and Australia.A decade-old molecular phylogeny,comprising~80%of the species,revealed multiple cases of parallel evolution and large variation in rates of morphological evolution,which had misled taxonomists into creating many non-monophyletic ***,we reconstruct the phylogeny of the larks,using a dataset covering one mitochondrial and 16 nuclear loci and comprising all except one of the currently recognised species as well as several recently proposed new species(in total 133 taxa;not all loci available for all species).We provide additional support using genome-wide markers to infer a genus-level phylogeny based on near-complete generic sampling(in total 51 samples of 44 taxa across 40 species).Our results confirm the previous findings of rampant morphological convergence and divergence,and reveal new cases of paraphyletic *** propose a new subfamily classification,and also that the genus Mirafra is divided into four genera to produce a more balanced generic classification of the *** study supports recently proposed species splits as well as some recent lumps,while also questioning some of the *** comprehensive phylogeny will form an important basis for future studies,such as comparative studies of lark natural history,ecology,evolution and conservation.

关键词： Phylogeny Phylogenomics Multispecies coalescent Lark Paraphyly Taxonomy Subfamily description

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Associations of cerebrospinal fluid amyloidogenic nanoplaques with cytokines in Alzheimer’s disease

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Translational Neurodegeneration 2021年第2期10卷 230-239页

作者： Mari Aksnes Hans Christian DAass Ann Tiiman Trine Holt Edwin Lars Terenius Nenad Bogdanovic Vladana Vukojevic Anne-Brita Knapskog Department of Geriatric Medicine Institute of Clinical MedicineFaculty of MedicineUniversity of OsloOsloNorway Department of Medical Biochemistry Oslo University HospitalOsloNorway Department of Clinical Neurosciences(CNS) Center for Molecular Medicine CMM L8:01Karolinska InstitutetStockholmSweden Department of Geriatric Medicine The Memory ClinicOslo University HospitalOsloNorway Institute of Health and Society Faculty of MedicineUniversity of OsloOsloNorway Norwegian National Advisory Unit on Ageing and Health Vestfold Hospital TrustTonsbergNorway Department of Neurobiology Care Science and Society(NVS)Division of Clinical GeriatricsKarolinska InstitutetHuddingeSweden

Background:The aggregation of amyloidβ(Aβ)is central in the pathogenesis of Alzheimer’s disease(AD).Recently it has been shown that specifically,larger,Thioflavin T-binding Aβaggregates are associated with increased neuroinflammation and cytokine *** study was aimed to quantify fibrillary amyloid aggregates,so-called nanoplaques,and investigate their relationship with cytokines in the cerebrospinal fluid(CSF).Methods:CSF was collected from 111 patients assessed for cognitive complaints at the Oslo University Hospital Memory *** patients were grouped based on their amyloid *** CSF nanoplaque concentration was quantified with the Thioflavin T-fluorescence correlation spectroscopy(ThT-FCS)*** levels of nine cytokines(eotaxin-1,granulocyte stimulating factor,interleukin[IL]-6,IL-7,IL-8,monocyte chemoattractant protein-1,gammainduced protein 10,macrophage inflammatory protein[MIP]-1α,and MIP-1β)were quantified with a magnetic bead-based multiplex assay and read on a Luminex IS 200 ***:There were 49 amyloid-negative and 62 amyloid-positive patients in the cohort;none of the cytokines differed significantly between the amyloid *** increased nanoplaque levels were associated with levels of MIP-1βbelow the lower limit of quantification,and with decreased levels of MIP-1αand *** associations remained significant when adjusted for age,sex,cognitive function,apolipoproteinε4 status and CSF core biomarker ***:The cytokine levels were not associated with amyloid status in this *** nanoplaque levels were negatively associated with MIP-1β,MIP-1αand IL-8,which is in line with recent findings suggesting that the upregulation of some cytokine markers has a protective role and is negatively associated with AD progression.

关键词： Alzheimer's disease Amyloid Amyloid beta peptides Amyloidogenic proteins Biomarkers Cerebrospinal fluid Cytokines Inflammation Fluorescence correlation spectroscopy Thioflavin T

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Head Neck:检测细针穿刺样品中的HPV16可用于诊断HPV阳性

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现代生物医学进展 2017年第8期17卷 I0004-I0004页

作者： Lars Sivars MD David Landin MD Linnea Haeggblom MSci Nikolaos Tertipis PhD Nathalie Gr uuml n PhD Cinzia Bersani PhD Linda Marklund MD, PhD Mehran Ghaderi PhD Anders N auml sman MD, PhD Torbj ouml rn Ramqvist PhD Cecilia Nordfors PhD Eva Munck ndash Wikland MD, PhD Edneia Tani MD, PhD Tina Dalianis MD, PhD Department of Oncology - Pathology Karolinska Institutet Stockholm Sweden Department of Oto-Rhino-Laryngology Head and Neck Surgery CLINTEC Karolinska Institutet Stockholm Sweden Department of Clinical Pathology Karolinska University Hospital Stockholm Sweden Department of Medical Biochemistry and Microbiology Microbiology - Immunology Uppsala University Uppsala Sweden

口咽鳞状细胞癌HPV16是指人乳头瘤病毒16型。HPV有多种类型，其中低危型HPV感染，主要引起生殖器疣（俗称菜花）。而高危型HPV感染则引起生殖器癌和子宫颈癌上皮细胞病变，此病毒为生殖器癌和子宫颈癌前细胞病毒的开端。

关键词： HPV16 人乳头瘤病毒16型鳞状细胞癌阳性诊断样品穿刺检测

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Liver fibrosis in non-alcoholic fatty liver disease-diagnostic challenge with prognostic significance

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World Journal of Gastroenterology 2015年第39期21卷 11077-11087页

作者： Per Stal Division of Gastroenterology and Hepatology Karolinska InstitutetDepartment of Digestive DiseasesHuddinge K63Karolinska University Hospital

Non-alcoholic fatty liver disease(NAFLD) is the mostcommon liver disease in the Western world, with a prevalence of 20%. In a subgroup of patients, inflammation, ballooning degeneration of hepatocytes and a varying degree of fibrosis may develop, a condition named non-alcoholic steatohepatitis. Advanced liver fibrosis(stage F3) and cirrhosis(stage F4) are histologic features that most accurately predict increased mortality in both liver-related and cardiovascular diseases. Patients with advanced fibrosis or cirrhosis are at risk for complications such as hepatocellular carcinoma and esophageal varices and should therefore be included in surveillance programs. However, liver disease and fibrosis are often unrecognized in patients with NAFLD, possibly leading to a delayed diagnosis of complications. The early diagnosis of advanced fibrosis in NAFLD is therefore crucial, and it can be accomplished using serum biomarkers(e.g., the NAFLD Fibrosis Score, Fib-4 Index or BARD) or non-invasive imaging techniques(transient elastography or acoustic radiation force impulse imaging). The screening of risk groups, such as patients with obesity and/or type 2 diabetes mellitus, for NAFLD development with these non-invasive methods may detect advanced fibrosis at an early stage. Additionally, patients with a low risk for advanced fibrosis can be identified, and the need for liver biopsies can be minimized. This review focuses on the diagnostic challenge and prognostic impact of advanced liver fibrosis in NAFLD.

关键词： Non-alcoholic fatty liver disease Fibrosis Mortality Biomarkers Elastography

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Molecular Characterization and Prevalence of Trypanosoma Species in Cattle from a Northern Livestock Area in Cote d’Ivoire

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Open Journal of Veterinary Medicine 2014年第12期4卷 314-321页

作者： Isidore Kpandji Kouadio Didier Sokouri Mathurin Koffi Ibrahim Konate Bernadin Ahouty Alain Koffi Simon Pierre N’Guetta Laboratoire de Genetique UFR BiosciencesUniversite Felix Houphouet BoignyAbidjanCote d’Ivoire Laboratoire des Interaction Hote-Microorganisme-Environnement et Evolution Universite Jean Lorougnon GuedeDaloaCote d’Ivoire Centre Suisse de Recherches Scientifiques en Cote d’Ivoire AbidjanCote d’Ivoire Institut Pierre Richet Unite de Recherche TrypanosomosesBouakeCote d’Ivoire

Background: African animal trypanosomiasis (AAT) is caused mainly by Trypanosoma congolense, T. vivax, and T. brucei brucei and is the major constraint for livestock productivity in Sub-Saharan African countries. Information about animal trypanosomiasis status in Ivory Coast is missing, especially regarding molecular epidemiology. Therefore, this study intended to apply molecular tools to identify and characterize trypanosomes in Ivory Coast for sustainable control. Methods: 363 cattle blood samples were collected from Ferkessedougou Region in northern Ivory Coast in 2012. Buffy coat technique (BCT) and species-specific PCR assays were used to detect trypanosome species. Results: Out of 363 cattle examined with BCT, 33 were found positive with all trypanosomes species accounting for an average of 9.09% prevalence whereas polymerase chain reaction (PCR) using species-specific primers showed that 81 out of 363 cattle were infected with trypanosomes with an overall prevalence of 22.31%. Trypanosoma congolense savanah type, T. Vivax and T. brucei sl. accounted for 28.39%, 49.38% and 23.45% of the infection rate respectively. No infection with T. congo forest?type was detected. T. vivax infection was the most prevalence in the area investigated compared to the two other trypanosome species. Mixed infections with different trypanosomes species were detected accounting for 7.32% of prevalence. Regarding sexrelated prevalence, male cattles were slightly more infected than female but the difference was not significant. Conclusion: Our results showed that there was a high prevalence of AAT in livestock in Ferkessedougou Area. There is therefore a need to strengthen control policies and institute measures that help prevent the spread of the parasites for sustainable control of animal trypanosome in this area.

关键词： Animal African Trypanosomiasis Molecular Diagnosis Species-Specific PCR Cote d’Ivoire

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