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Acute liver failure with hemolytic anemia in children with Wilson’s disease:Genotype-phenotype correlations?

World Journal of Hepatology 2021年第10期13卷 1428-1438页

作者： tudor lucian Pop Alina Grama ana Cristina stefanescu Claudia Willheim Peter Ferenci 2^(nd) Pediatric Discipline Department of Mother and ChildIuliu Hatieganu University of Medicine and PharmacyCluj-Napoca 400177Romania 2^(nd) Pediatric Clinic Center of Expertise in Pediatric Liver Rare DisordersEmergency Clinical Hospital for ChildrenCluj-Napoca 400177Romania Department of Internal Medicine Ⅲ Gastroenterology and HepatologyMedical University of ViennaWien A-1090Austria

BACKGROUND Wilson’s disease(WD)is a rare autosomal recessive inherited disorder of copper *** liver failure(AlF)and hemolytic anemia represent the most severe presentation of WD in *** clear genotype-phenotype correlations exist in ***-truncating nonsense,frame-shift,or splice-site variants may be associated with more severe *** contrast,missense variants may be associated with late-onset,less severe disease,and more neurological ***,a gene variant(HsD17B13:tA,rs72613567)with a possible hepatic protective role against toxins was associated with a less severe hepatic phenotype in *** to analyze the possible genotype-phenotype correlations in children with WD presented with AlF and non-immune hemolytic *** the medical records of children with WD diagnosed and treated in our hospital from January 2006 to December 2020 were retrospectively *** clinical manifestations(AlF with non-immune hemolytic anemia or other less severe forms),laboratory parameters,copper metabolism,AtP7B variants,and the HsD17B13:tA(rs72613567)variant were reviewed to analyze the possible genotype-phenotype *** We analyzed the data of 51 patients with WD,26 females(50.98%),with the mean age at the diagnosis of 12.36±3.74 *** and Coombs-negative hemolytic anemia was present in 8 children(15.67%),all adolescent *** Kayser-Fleisher ring was present in 9 children(17.65%).the most frequent variants of the AtP7B gene were ***1069Gln(c.3207A>G)in 38.24% of all alleles,***1341Asp(c.4021G>A)in 26.47%,***939Cys(c.2817G>t)in 9.80%,and ***844ter(c.2530A>t)in 4.90%.In AlF with hemolytic anemia,***939Cys(c.2817G>t)and ***844ter(c.2530A>t)variants were more frequent than in other less severe forms,in which ***1069Gln(c.3207A>G)was more ***1341Asp(c.4021G>A)has a similar frequency in all hepatic *** 33 of the patients,the HsD17B13 genotype was *** overall HsD17B13:tA a

关键词： Wilson’s disease Children Acute liver failure Hemolytic anemia AtP7B variant Genotype-phenotype correlation

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Evaluation on the corrosion resistance, antibacterial property and osteogenic activity of biodegradable Mg-Ca and Mg-Ca-Zn-Ag alloys

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Journal of Magnesium and Alloys 2022年第12期10卷 3380-3396页

作者： Hewei Chen Bo Yuan Rui Zhao Xiao Yang Zhanwen Xiao Antoniac Aurora Bita ana Iulia Xiangdong Zhu Antoniac Vasile Iulian Xingdong Zhang National Engineering Research Center for Biomaterials Sichuan UniversityChengdu 610064China Faculty of Materials science and Engineering University Politehnica of BucharestBucharest 060042Romania Academy of Romanian scientists Bucharest 050094Romania

the rapid degradation of magnesium(Mg)-based implants in physiological environment limits its clinical applications, and alloying treatment is an effective way to regulate the degradation rate of Mg-based materials. In the present study, three Mg alloys, including Mg-0.8Ca(denoted as ZQ), Mg-0.8Ca-5Zn-1.5Ag(denoted as ZQ71) and Mg-0.8Ca-5Zn-2.5Ag(denoted as ZQ63), were fabricated by alloying with calcium(Ca), zinc(Zn) and silver(Ag). the results obtained from electrochemical corrosion tests and in vitro degradation evaluation demonstrated that the three Mg alloys exhibited distinct corrosion resistance, and ZQ71 exhibited the lowest degradation rate in vitro among them. After addition of Zn and Ag, the antibacterial potential of Mg alloys was also enhanced. the in vitro cell experiments showed that all the three Mg alloys had good biocompatibility. After implantation in a rat femoral defect, ZQ71 showed significantly higher osteogenic activity and bone substitution rate than ZQ63 and ZQ, due to its higher corrosion resistance as well as the stimulatory effects of the released metallic ions. In addition, the average daily degradation rate of each Mg alloy in vivo was significantly higher than that in vitro, as could be due to the implantation site located in the highly vascularized trabecular region. Importantly, the correlations between the in vitro and in vivo degradation parameters of the Mg alloys were systematically analyzed to find out the potential predictors of the in vivo degradation performance of the materials. the current work not only evaluated the clinical potential of the three biodegradable Mg alloys as bone grafts but also provided a feasible approach for predicting the in vivo degradation behavior of biodegradable materials.

关键词： Mg alloys Degradability Antibacterial property Osteogenic ability Bone defect repair

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8-Hydroxyquinolylnitrones as multifunctional ligands for the therapy of neurodegenerative diseases

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Acta Pharmaceutica sinica B 2023年第5期13卷 2152-2175页

作者： damijan Knez daniel Diez-Iriepa Mourad Chioua Andrea Gottinger Milica Denic Fabien Chantegreil Florian Nachon Xavier Brazzolotto Anna skrzypczak-Wiercioch Ane Meden Anja Pilar Janko Kos simon akelj Jure stojan Kinga saat Julia serrano ana Patricia Fernández Aitana sánchez-García Ricardo Martínez-Murillo Claudia Binda Francisco lópez-Muoz stanislav Gobec JoséMarco-Contelles University of ljubljana Faculty of PharmacyLjubljana 1000Slovenia laboratory of Medicinal Chemistry(Institute of Organic Chemistry CSIC)Madrid 28006Spain Departamento de Química Orgánicay Química Inorgánica Alcaláde HenaresMadrid 28871Spain Department of Biology and Biotechnology University of PaviaPavia 27100Italy Département de toxicologie et Risques Chimiques Institut de Recherche Biomédicale des ArméesParis 91220France Department of Animal anatomy and Preclinical sciences University Centre of Veterinary Medicine JU-UAUniversity of Agriculture in KrakowKrakow 30-059Poland Institute of Biochemistry Faculty of MedicineUniversity of LjubljanaLjubljana 1000Slovenia Department of Pharmacodynamics Chair of PharmacodynamicsFaculty of PharmacyJagiellonian University Medical CollegeKrakow 30-688Poland Department of translational Neurobiology Neurovascular Research GroupCajal Institute(CSIC)Madrid 28002Spain Biotechnology and Vegetal Biology Department Escuela Técnica Superior de Ingeniería AgronómicaAlimentaria y de BiosistemasUniversidad Politécnica de MadridMadrid 28040Spain Faculty of Health Camilo JoséCela University of Madrid(UCJC)Neuropsychopharmacology Unit“Hospital 12 de Octubre”Research InstituteMadrid 28692Spain

We describe the development of quinolylnitrones(QNs)as multifunctional ligands inhibiting cholinesterases(ChEs:acetylcholinesterase and butyrylcholinesterase—h BChE)and monoamine oxidases(hMAO-A/B)for the therapy of neurodegenerative *** identified QN 19,a simple,low molecular weight nitrone,that is readily synthesized from commercially available *** 19 has no typical pharmacophoric element to suggest ChE or MAO inhibition,yet unexpectedly showed potent inhibition of h BChE(IC50=1.06±0.31 nmol/l)and h MAO-B(IC_(50)=4.46±0.18μmol/l).the crystal structures of 19 with hBChE and hMAO-B provided the structural basis for potent binding,which was further studied by enzyme *** 19 acted as a free radical scavenger and biometal chelator,crossed the blood—brain barrier,was not cytotoxic,and showed neuroprotective properties in a 6-hydroxydopamine cell model of Parkinson's *** addition,in vivo studies showed the anti-amnesic effect of 19 in the scopolamine-induced mouse model of AD without adverse effects on motoric function and ***,chronic treatment of double transgenic APPswe-Ps1δE9 mice with 19 reduced amyloid plaque load in the hippocampus and cortex of female mice,underscoring the disease-modifying effect of QN 19.

关键词： Quinolylnitrone Butyrylcholinesterase Monoamine oxidase B Alzheimer's disease Multifunctional ligands 6-Hydroxydopamine model Passive avoidance task Novel object recognition

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Brazilian Indigenous Children as Carriers of Diarrheagenic Escherichia coli Pathotypes

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Advances in Infectious Diseases 2018年第4期8卷 200-216页

作者： Carla V.l.Coelho tania A.t.Gomes Monica A.M.Vieira ana Cláudia P.Rosa Diana P.Marinho Bernadeth l.Von sohsten Cristiane s.sanfins AndréR.santos Périssé Adriana H.Regua-Mangia Oswaldo Cruz Foundation Rio de JaneiroBrazil Federal University of sao Paulo Sao PauloBrazil University of the state of Rio de Janeiro Rio de JaneiroBrazil Ministry of Health Rio de Janeiro State NucleusRio de JaneiroBrazil

Introduction: Diarrheagenic Escherichia coli (DEC) is a relevant cause of diarrhea, particularly among infants and young children in developing countries. Methodology: We compared the frequency, antimicrobial resistance, adherence, enterovirulence and genetic diversity of DEC isolates from Guarani indigenous population under five living in distinct villages in Brazil. Results: Of the 314 E. coli isolates from 57 children, with and without diarrhea, 15% (48/314) were classified in DEC categories: aEPEC (56%, 27/48), EAEC (35%, 17/48) and EtEC (8%, 4/48). EtEC belonged to plylogroup A, EAEC to groups A, B1, B2 and D, and aEPEC to phylogroups A, B1, and B2. EAEC exhibited the aggregative adherence phenotype while EtEC and aEPEC the aggregative and undefined patterns. Multidrug-resistance was detected in aEPEC, EtEC and EAEC while extensive drug-resistance was found in EAEC and aEPEC. RAPD typing revealed a genetically diverse bacterial population. Conclusion: this is the first report regarding aspects of DEC in an indigenous Brazilian population, showing that Guarani children are DEC carriers and that antimicrobial resistance at high levels is widely disseminated among these enteropathogens.

关键词： Escherichia coli Brazilian Indians Virulence Antimicrobial Resistance Diarrheal Disease

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Environmental parameters and tree physiology in two semiarid land use systems in Brazil

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Journal of Forestry Research 2019年第2期30卷 397-407页

作者： Marlete Moreira Mendes Ivanov Claudivan Feitosa de lacerda Francisco Eden Fernandes Paiva ana Clara Rodrigues Cavalcante teogenes senna de Oliveira Departamento de Biologia Universidade Federal do Piaui Departamento de Engenharia Agricola Campus do PiciUniversidade Federal do Ceara Embrapa Caprinos e Ovinos Departamento de solos Universidade Federal de Vicosa

to determine if reduced tree densities(number of trees per unit area) lead to changes in micro-meteorological and tree physiological characteristics, two areas with different tree densities were assessed. One was an agrosilvopastoral system(AGP) with low tree density, and the other, a secondary forest(sF) with greater tree numbers, both located in a semiarid region of Brazil. data were collected simultaneously by two automated weather stations: rainfall, air(t_a) and soil temperatures(t_(s5 cm)), relative humidity(RHair), photosynthetically active radiation(PAR), soil moisture at two depths(M_(s30 cm)and M_(s50 cm)),and wind velocity(Vw). Net photosynthesis in Cordia oncocalyx Allema?o trees was measured with an infrared gas analyzer in February, March, May, July, August and september 2011, which encompasses a rainy period followed by a dry period. Average values of ta, t_(s5 cm), Vwand PAR were greater and average values of RHairand M_(s50 cm) were lesser in the AGP. Photosynthetic rates were greater in plants growing under the AGP at the onset of the dry season when Vw, PAR and t_(s5 cm)were greater and M_(s50 cm) was lesser. Photosynthetic rates correlated strongly with physical parameters during the dry season, especially under sF. Differences in tree numbers between AGP and sF led to differences in physical environmental parameters;however, the latter had less influence on photosynthetic rates in C. oncocalyx during the rainy season. During the dry season, all physical parameters had an impact on net photosynthesis under sF but not under AGP. this indicates a certain independence of plants in AGP.

关键词： Agrosilvopastoral system Net photosynthesis secondary forest tree density

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Metabolic syndrome and colorectal neoplasms:An ominous association

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World Journal of Gastroenterology 2015年第17期21卷 5320-5327页

作者： daniel trabulo suzane Ribeiro Cláudio Martins Cristina teixeira Cláudia Cardoso Jo?o Mangualde Ricardo Freire élia Gamito ana l Alves Fátima Augusto ana P Oliveira Isabelle Cremers Gastroenterology Department Hospital de S?o BernardoCentro Hospitalar de Setúbal2910-446 SetúbalPortugal

AIM:to evaluate the association of metabolic syndrome(Ms) and colorectal cancer and adenomas in a Western country,where the incidence of Ms is over 27%.MEtHODs:this was a prospective study between March 2013 and March *** was diagnosed according to the National Cholesterol Education ProgramAtP *** characteristics,anthropometric measurements,metabolic risk factors,and colonoscopic pathologic findings were assessed in patients with Ms(group 1) who underwent routine colonoscopy at our *** data was compared with consecutive patients without metabolic syndrome(group 2),with no differences regarding sex and *** with incomplete colonoscopy,family history,or past history of colorectal neoplasm were *** consent was obtained and the ethics committee approved this *** analysis was performed using student's t-test and χ2 test,with a P value ≤ 0.05 being considered statistically ***:Of 258 patients,129 had Ms;51% males;mean-age 67.1 years(50-87).Among the Ms group,94% had high blood pressure,91% had increased waist circumference,60% had diabetes,55% had low high-density lipoprotein cholesterol level,50% had increased triglyceride level,and 54% were obese [body mass index(BMI) 30 kg/m2].51% presented 4 criteria of *** was associated with increased prevalence of adenomas(43% vs 25%,P = 0.004) and colorectal cancer(13% vs 5%,P = 0.027),compared with patients without *** was also positively associated with multiple(≥ 3) adenomas(35% vs 9%,P = 0.024) and sessile adenomas(69% vs 53%,P = 0.05).No difference existed between location(P = 0.086),grade of dysplasia(P = 0.196),or size(P= 0.841) of *** addition,no difference was found between BMI(P = 0.078),smoking(P = 0.146),alcohol consumption(P = 0.231),and the presence of ***:Ms is positively associated with adenomas and colorectal ***,there is not enough information in western European countries to justify screening in

关键词： Metabolic syndrome Colorectal cancer Colorectal adenomas Obesity Western countries

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MicroRNAs expression influence in ulcerative colitis and Crohn's disease:A pilot study for the identification of diagnostic biomarkers

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World Journal of Gastroenterology 2021年第45期27卷 7801-7812页

作者： ana Elisa Valencise Quaglio Felipe Jose santaella Maria Aparecida Marchesan Rodrigues ligia Yukie sassaki luiz Claudio Di stasi laboratory of Phytomedicines Pharmacology and Biotechnology(PhytoPharmaTec)Department of Biophysics and PharmacologySão Paulo State University(Unesp)Institute of BiosciencesBotucatu 18618-689São PauloBrazil Department of Pathology Botucatu Medical SchoolSao Paulo State University(Unesp)Botucatu 18618-687São PauloBrazil Department of Internal Medicine Botucatu Medical SchoolSão Paulo State University(Unesp)Botucatu 18618-687São PauloBrazil

BACKGROUND Inflammatory bowel disease(IBD)comprises two distinct diseases,Crohn’s disease(CD)and ulcerative colitis(UC),both of which are chronic,relapsing inflammatory disorders of the gastrointestinal tract with a mostly unknown *** incidence and prevalence of IBD are continually increasing,indicating the need for further studies to investigate the genetic determinants of these *** microRNAs(miRNAs)regulate protein translation via complementary binding to mRNA,discovering differentially expressed miRNAs(DE)in UC or CD patients could be important for diagnostic biomarker identification,assisting in the appropriate disease differentiation progressing the understanding of IBD *** to determine the miRNA expression profile in UC and CD patients and the potential pathophysiological contributions of differentially expressed *** A total of 20 formalin-fixed paraffin-embedded colonic samples were collected from the Pathology Department of Botucatu Medical school at são Paulo state University(Unesp).the diagnosis of UC or CD was based on clinical,endoscopic,radiologic,and histological criteria and confirmed by histopathological analysis at the time of *** taqMan™Array Human MicroRNA A+B Cards set v3.0(Applied Biosystems™)platform was used to analyze 754 *** of DE-miRNAs were predicted using miRNA data Integration Portal(mirDIP)and the miRNA target Interaction database(MiRtarBase).All statistical analyses were conducted using GraphPad Prism *** and nonparametric data were analyzed using t-tests and Mann-Whitney U tests,*** the results showed that of the 754 miRNAs that were initially evaluated,643 miRNAs were found to be expressed in at least five of the patients who were diagnosed with either CD or UC;the remaining 111 miRNAs were not considered to be expressed in these *** expression levels of 28 miRNAs were significantly different between the CD and UC patients(P≤0.05

关键词： Crohn’s disease Ulcerative colitis Inflammatory bowel disease miRNA Differential diagnosis Biomarker

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Graphene electronic fibres with touch-sensing and lightemitting functionalities for smart textiles

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npj Flexible Electronics 2018年第1期2卷 231-236页

作者： Elias torres Alonso daniela P.Rodrigues Mukond Khetani Dong-Wook shin Adolfo De sanctis Hugo Joulie Isabel de schrijver Anna Baldycheva Helena Alves ana I.s.Neves saverio Russo Monica F.Craciun Centre for Graphene science College of EngineeringMathematics and Physical SciencesUniversity of ExeterEX44QL ExeterUnited Kingdom Department of Physics and CICECO University of Aveiro3819-130 AveiroPortugal Centexbel Technologiepark-Zwijnaarde 79052 GhentBelgium Department of Physics Instituto Superior TécnicoUniversity of LisbonAv.Rovisco Pais 11040-001 LisbonPortugal

the true integration of electronics into textiles requires the fabrication of devices directly on the fibre itself using high-performance materials that allow seamless incorporation into *** electronics and opto-electronics,attained by intertwined fibres with complementary functions are the emerging and most ambitious technological and scientific *** we demonstrate graphene-enabled functional devices directly fabricated on textile fibres and attained by weaving graphene electronic fibres in a *** touch-sensors and light-emitting devices were produced using a roll-to-roll-compatible patterning technique,opening new avenues for woven textile ***,the demonstration of fabric-enabled pixels for displays and position sensitive functions is a gateway for novel electronic skin,wearable electronic and smart textile applications.

关键词： textiles smart functional

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Pseudomembranous colitis associated with a triple therapy for Helicobacter pylori eradication

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World Journal of Gastroenterology 2013年第42期19卷 7476-7479页

作者： Anca trifan Irina Girleanu Camelia Cojocariu Catalin sfarti ana Maria singeap Carmen Dorobat lucia Grigore Carol stanciu "Gr. t. Popa" University of Medicine and Pharmacy 700111 IasiRomania Institute of Gastroenterology and Hepatology "St. Spiridon" Emergency Hospital700111 IasiRomania "st. Parascheva" Clinical Hospital of Infectious Diseases 700111 IasiRomania

Helicobacter pylori(***)is one of the most common chronic bacterial infections in humans,affecting half of world’s *** for *** infection has proven to be both effective and *** oneweek triple therapy including proton pump inhibitor,clarithromycin,and amoxicillin or metronidazole is still recommended as a first-line treatment to eradicate *** infection in countries with low clarithromycin ***,this therapy is well-tolerated,with only a few and usually minor side ***,rare but severe adverse effects such as pseudomembranous colitis have been reported,Clostridium difficile(***)infection being the main causative factor in all *** report the cases of two women who developed pseudomembranous colitis after a 1-wk triple therapy consisting of pantoprazole 20 mg bid,clarithromycin 500 mg bid,and amoxicillin 1 g bid to eradicate *** infection.A limited colonoscopy showed typical appearance of pseudomembranous colitis,and the stool test for *** toxins was *** resolution of symptoms and negative *** toxins were obtained in both patients with oral *** relapse occurred during a four and eleven-month,respectively,follow *** cases suggest that physicians should have a high index of suspicion for pseudomembranous colitis when evaluate patients with diarrhea following *** eradication therapy.

关键词： Helicobacter pylori eradication triple therapy Clostridium difficile Pseudomembranous colitis Vancomycin

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Actinobacteria-enhanced plant growth, nutrient acquisition, and crop protection:Advances in soil, plant, and microbial multifactorial interactions

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Pedosphere 2022年第1期32卷 149-170页

作者： Debasis MItRA Rittick MONdal Bahman KHOsHRU Ansuman sENAPAtI t.K.RADHA Bhaswatimayee MAHAKUR Navendra UNIYAl Ei Mon MYO Hanane BOUtAJ Beatriz Elena GUERRA sIERRA Periyasamy PANNEERsElVAM Arakalagud Nanjundaiah GANEsHAMURtHY snežana ANÐElKOVIĆ tanja VAsIĆ Anju RANI subhadeep DUttA Pradeep K.das MOHAPAtRA Department of Microbiology Raiganj UniversityRaiganjWest Bengal 733134India Department of sericulture Raiganj UniversityRaiganjWest Bengal 733134India Department of soil science Faculty of AgricultureUniversity of TabrizTabriz 51664Iran Crop Production Division Indian Council of Agricultural Research(ICAR)National Rice Research InstituteCuttackOdisha 753006India Division of soil science and Agricultural Chemistry ICAR Indian Institute of Horticultural ResearchBengaluruKarnataka 560089India Department of Botany and Biotechnology Ravenshaw UniversityCuttackOdisha 753003India Genetics and tree Propagation Division Forest Research InstituteUttarakhand 248003India Biotechnology Research Department Department of Research and InnovationMinistry of EducationKyaukse 05151Myanmar laboratory of Biotechnology and Molecular Bioengineering Faculty of Sciences and TechnologyCadi Ayyad UniversityMarrakesh 40000Morocco Universidad de santander Facultad de Ciencias Exactas Naturales y AgropecuariasGrupoMicrobiotaCampus Universitario Lagos del CaciqueBucaramanga 680002Colombia Institute for Forage Crops Kruševac 37251Republic of Serbia Plant Protection Faculty of AgricultureUniversity of NišKosančićeva 4Kruševac 37000Republic of Serbia Department of life sciences Graphic Era(Deemed to be University)DehradunUttarakhand 248002India Professor A.K.Bothra Environment Conservation Centre Raiganj UniversityRaiganjWest Bengal 733134India

Agricultural areas of land are deteriorating every day owing to population increase, rapid urbanization, and industrialization. to feed today’s huge populations, increased crop production is required from smaller areas, which warrants the continuous application of high doses of inorganic fertilizers to agricultural land. these cause damage to soil health and, therefore, nutrient imbalance conditions in arable soils. Under these conditions, the benefits of microbial inoculants (such as Actinobacteria) as replacements for harmful chemicals and promoting ecofriendly sustainable farming practices have been made clear through recent technological advances. there are multifunctional traits involved in the production of different types of bioactive compounds responsible for plant growth promotion, and the biocontrol of phytopathogens has reduced the use of chemical fertilizers and pesticides. there are some well-known groups of nitrogen-fixing Actinobacteria, such as Frankia, which undergo mutualism with plants and offer enhanced symbiotic *** addition to nitrogen fixation, increasing availability of major plant nutrients in soil due to the solubilization of immobilized forms of phosphorus and potassium compounds, production of phytohormones, such as indole-3-acetic acid, indole-3-pyruvic acid, gibberellins, and cytokinins, improving organic matter decomposition by releasing cellulases, xylanase, glucanases, lipases, and proteases, and suppression of soil-borne pathogens by the production of siderophores, ammonia, hydrogen cyanide, and chitinase are important features of Actinobacteria useful for combating biotic and abiotic stresses in *** positive influence of Actinobacteria on soil fertility and plant health has motivated us to compile this review of important findings associated with sustaining plant productivity in the long run.

关键词： biocontrol agents microbial inoculant metabolites mitrogen fixation plant growth promoters sustainable agriculture

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