Search results for "TAM"

showing 10 items of 11664 documents

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Different behavior of myeloperoxidase in two rodent amoebic liver abscess models.

2016

The protozoan Entamoeba histolytica is the etiological agent of amoebiasis, which can spread to the liver and form amoebic liver abscesses. Histological studies conducted with resistant and susceptible models of amoebic liver abscesses (ALAs) have established that neutrophils are the first cells to contact invasive amoebae at the lesion site. Myeloperoxidase is the most abundant enzyme secreted by neutrophils. It uses hydrogen peroxide secreted by the same cells to oxidize chloride ions and produce hypochlorous acid, which is the most efficient microbicidal system of neutrophils. In a previous report, our group demonstrated that myeloperoxidase presents amoebicidal activity in vitro. The ai…

0301 basic medicineMalePathologyNeutrophilslcsh:MedicineGene ExpressionPathology and Laboratory MedicineWhite Blood Cells0302 clinical medicineAnimal CellsCricetinaeMedicine and Health SciencesAmoebaslcsh:ScienceImmune ResponseDisease ResistanceMammalsProtozoansMice Inbred BALB CMultidisciplinaryAmoebic liver abscessbiologyChemistryAnimal ModelsLiverExperimental Organism SystemsMyeloperoxidaseHost-Pathogen InteractionsVertebratesLiver Abscess AmebicHamstersmedicine.symptomCellular TypesResearch Articlemedicine.medical_specialtyImmune CellsImmunologyMouse ModelsResearch and Analysis MethodsRodentsMicrobiologyLesionEntamoeba Histolytica03 medical and health sciencesEntamoeba histolyticaModel OrganismsSigns and SymptomsIn vivoDiagnostic MedicineParasite GroupsmedicineGeneticsAnimalsAmoebiasisTrophozoitesPeroxidaseInflammationBlood Cellslcsh:ROrganismsBiology and Life SciencesCell Biologybiology.organism_classificationmedicine.diseaseIn vitroParasitic ProtozoansDisease Models Animal030104 developmental biologyAmniotesbiology.proteinlcsh:QParasitologyLeukocyte ElastaseApicomplexa030215 immunologyLiver abscessPloS one
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Prospective cohort study of risk factors for extended-spectrum ß-lactamase-producing Escherichia coli urinary tract infections in elderly patients ad…

2017

Producción Científica

0301 basic medicineMalePediatricsmedicine.medical_specialtyMultivariate analysismedicine.drug_classUrinary system030106 microbiologyAntibioticsbeta-Lactamases03 medical and health sciences0302 clinical medicineRisk Factors32 Ciencias Médicaspolycyclic compoundsmedicinePrevalenceEscherichia coliHumans030212 general & internal medicineProspective StudiesRisk factorProspective cohort studyEscherichia coli InfectionsAgedHigh rateAged 80 and overInfeccionesbusiness.industryMedical recordGeneral Medicinebiochemical phenomena metabolism and nutritionbacterial infections and mycosesUniversity hospitalHospitalizationSpainUrinary Tract InfectionsbacteriaFemalebusinessBiomarkers
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Is prolonged infusion of piperacillin/tazobactam and meropenem in critically ill patients associated with improved pharmacokinetic/pharmacodynamic an…

2016

Objectives: We utilized the database of the Defining Antibiotic Levels in Intensive care unit patients (DALI) study to statistically compare the pharmacokinetic/pharmacodynamic and clinical outcomes between prolonged- infusion and intermittent-bolus dosing of piperacillin/tazobactam and meropenem in critically ill patients using inclusion criteria similar to those used in previous prospective studies. Methods: This was a post hoc analysis of a prospective, multicentre pharmacokinetic point-prevalence study (DALI), which recruited a large cohort of critically ill patients from 68 ICUs across 10 countries. Results: Of the 211 patients receiving piperacillin/tazobactam and meropenem in the DAL…

0301 basic medicineMalePenicillanic Acidintensive care unitlaw.inventionthienamycin derivative abdominal infection[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseaseslawcentral nervous system infectioncreatinine clearancePharmacology (medical)Infusions IntravenouProspective StudiesInfusions IntravenousProspective cohort studyTazobactam Drug CombinationAged; Anti-Bacterial Agents; Blood Chemical Analysis; Critical Illness; Female; Humans; Infusions Intravenous; Intensive Care Units; Male; Meropenem; Microbial Sensitivity Tests; Middle Aged; Penicillanic Acid; Piperacillin; Piperacillin Tazobactam Drug Combination; Prospective Studies; Thienamycins; Treatment Outcome; Pharmacology; Microbiology (medical); Pharmacology (medical); Infectious Diseasescritical illneMicrobial Sensitivity TestadultRespiratory infectionclinical trialMiddle Agedcontinuous infusionanalogs and derivativeIntensive care unit3. Good healthAnti-Bacterial Agentsantiinfective agentintravenous drug administrationIntensive Care Units[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyTreatment OutcomeInfectious DiseasesPiperacillin/tazobactammulticenter study (topic)SOFA scoreFemaletreatment outcome AgedIntravenousprospective studyHumanmedicine.drugsurvival rateMicrobiology (medical)medicine.medical_specialtyInfusionspost hoc analysirespiratory tract infectionCritical IllnessAged; Anti-Bacterial Agents; Blood Chemical Analysis; Critical Illness; Female; Humans; Infusions Intravenous; Intensive Care Units; Male; Microbial Sensitivity Tests; Middle Aged; Penicillanic Acid; Piperacillin; Prospective Studies; Thienamycins; Treatment Outcome; Pharmacology; Pharmacology (medical); Infectious Diseases030106 microbiologybloodstream infectionMicrobial Sensitivity Testsminimum inhibitory concentrationpiperacillin plus tazobactamMeropenemTazobactamArticle03 medical and health sciencescritically ill patientInternal medicineAnti-Bacterial AgentmedicineSequential Organ Failure Assessment ScoreHumansThienamycinsurvival timeblood analysiAgedPiperacillinPharmacologybusiness.industryBlood Chemical AnalysiMeropenemmajor clinical studySurgeryProspective Studiemulticenter studyPharmacology; Pharmacology (medical); Infectious Diseases[SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/PharmacologyThienamycinspiperacillin tazobactam drug combinationurinary tract infectionbusinessBlood Chemical AnalysisPiperacillin
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A novel intracellular mutualistic bacterium in the invasive ant Cardiocondyla obscurior.

2016

The evolution of eukaryotic organisms is often strongly influenced by microbial symbionts that confer novel traits to their hosts. Here we describe the intracellular Enterobacteriaceae symbiont of the invasive ant Cardiocondyla obscurior, 'Candidatus Westeberhardia cardiocondylae'. Upon metamorphosis, Westeberhardia is found in gut-associated bacteriomes that deteriorate following eclosion. Only queens maintain Westeberhardia in the ovarian nurse cells from where the symbionts are transmitted to late-stage oocytes during nurse cell depletion. Functional analyses of the streamlined genome of Westeberhardia (533 kb, 23.41% GC content) indicate that neither vitamins nor essential amino acids a…

0301 basic medicineMalePhenylpyruvic Acidsmedia_common.quotation_subjectMicrobiologyGenomeNurse cellMicrobiology03 medical and health sciencesShikimate pathwayAnimalsMetamorphosisSymbiosisEcology Evolution Behavior and SystematicsPhylogenymedia_commonGeneticsbiologyBacteriaHost (biology)Antsfungibiochemical phenomena metabolism and nutritionbiology.organism_classificationEnterobacteriaceaeANT030104 developmental biologyCandidatusFemaleOriginal ArticleThe ISME journal
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Molecular Alterations in Spermatozoa of a Family Case Living in the Land of Fires. A First Look at Possible Transgenerational Effects of Pollutants.

2020

In our previous work, we reported alterations in protamines/histones ratio, in DNA binding of these proteins and their involvement in DNA oxidative damage in 84% of the young men living in the Land of Fires. In the present work, we extended our findings, evaluating any alterations in spermatozoa of a family case, a father and son, living in this area, to also give a first look at the possibility of transgenerational inherited effects of environmental contaminants on the molecular alterations of sperm nuclear basic proteins (SNBP), DNA and semen parameters. In the father and son, we found a diverse excess of copper and chromium in the semen, different alterations in SNBP content and low DNA …

0301 basic medicineMaleProtamineprotein-DNA binding010501 environmental sciences01 natural sciencesAntioxidantslcsh:ChemistryOxidative damageHistoneschemistry.chemical_compoundProtaminesSettore BIO/06 - Anatomia Comparata E CitologiaLand of Firesheavy metalslcsh:QH301-705.5SpectroscopyGeneticsbiologySperm CountSperm Motility Nuclear Proteinhuman protaminestransgenerational effectsHuman protamineNuclear ProteinsGeneral MedicineMiddle AgedSpermatozoaComputer Science ApplicationsDNA oxidative damageHistoneHeavy metalSperm MotilityEnvironmental PollutantsAntioxidantAdolescentDNA damageSemenEMSACatalysisArticleInorganic Chemistry03 medical and health sciencesTransgenerational epigeneticsSemenHumansPhysical and Theoretical ChemistryMolecular BiologyEnvironmental PollutantLand of FireInfertility Male0105 earth and related environmental sciencesPollutantOrganic ChemistryTransgenerational effectEnvironmental ExposureHydrogen PeroxideProtaminehuman spermatozoaSemen Analysis030104 developmental biologyFertilitylcsh:Biology (General)lcsh:QD1-999chemistrybiology.proteinDNADNA DamageInternational journal of molecular sciences
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Plasma Metabolites From Choline Pathway and Risk of Cardiovascular Disease in the PREDIMED (Prevention With Mediterranean Diet) Study.

2017

Background-The relationship between plasma concentrations of betaine and choline metabolism and major cardiovascular disease (CVD) end points remains unclear. We have evaluated the association between metabolites from the choline pathway and risk of incident CVD and the potential modifying effect of Mediterranean diet interventions. Methods and Results-We designed a case-cohort study nested within the PREDIMED (Prevention With Mediterranean Diet) trial, including 229 incident CVD cases and 751 randomly selected participants at baseline, followed up for 4.8 years. We used liquid chromatography-tandem mass spectrometry to measure, at baseline and at 1 year of follow-up, plasma concentrations …

0301 basic medicineMaleTime FactorsMediterranean dietEpidemiologymodelos de riesgos proporcionaleshumanosSistema cardiovascular -- Malaltieséteres de fosfolípidosDisease030204 cardiovascular system & hematologyGut floraDiet MediterraneanCholinechemistry.chemical_compound0302 clinical medicineBetainecardiovascular diseaseRisk FactorsTandem Mass Spectrometryestudios prospectivosmetabolómicaCholineProspective StudiesTrimethylamine-n-oxidemediana edadOriginal ResearchDiet and Nutritionmetilaminas2. Zero hungerAged 80 and overChromatographyancianoCholine metabolismbiologydietaresultado del tratamientoIncidencePhospholipid Ethersdistribución de la ji al cuadradoMiddle AgedCardiovascular disease3. Good healthPrimary PreventioncolinaTreatment OutcomeCardiovascular Diseasesespectrometría de masas en tándemPlasma concentrationProfileFemaleCardiology and Cardiovascular Medicinefosforilcolinamedicine.medical_specialtyPhosphorylcholineestudios de casos y controlesenfermedades cardiovascularesGut microbiotaincidencia03 medical and health sciencesMethylaminesfactores de tiempoInternal medicineMediterranean dietOxidationmedicinefactores de riesgoHumansMetabolomicsanálisis multifactorialDieta -- Mediterrània Regió de lacromatografíaAgedProportional Hazards ModelsChi-Square Distributiongut microbiotabusiness.industrybetaínaPlasma sanguiniLifestylebiology.organism_classificationPredimedDietBetainePhosphatidylcholine030104 developmental biologyEndocrinologychemistrySpainCase-Control StudiesMultivariate AnalysisbusinessBiomarkersChromatography Liquid
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Repurposing a Library of Human Cathepsin L Ligands: Identification of Macrocyclic Lactams as Potent Rhodesain and Trypanosoma brucei Inhibitors.

2018

Rhodesain (RD) is a parasitic, human cathepsin L (hCatL) like cysteine protease produced by Trypanosoma brucei (T. b.) species and a potential drug target for the treatment of human African trypanosomiasis (HAT). A library of hCatL inhibitors was screened, and macrocyclic lactams were identified as potent RD inhibitors (Ki < 10 nM), preventing the cell-growth of Trypanosoma brucei rhodesiense (IC50 < 400 nM). SARs addressing the S2 and S3 pockets of RD were established. Three cocrystal structures with RD revealed a noncovalent binding mode of this ligand class due to oxidation of the catalytic Cys25 to a sulfenic acid (Cys–SOH) during crystallization. The P-glycoprotein efflux ratio was mea…

0301 basic medicineMaleTrypanosoma brucei rhodesienseSwineCathepsin LLactams MacrocyclicTrypanosoma bruceiCysteine Proteinase InhibitorsLigands01 natural sciencesCell LineCathepsin L03 medical and health sciencesStructure-Activity RelationshipIn vivoparasitic diseasesDrug DiscoveryHydrolaseAnimalsHumansIC50Binding SitesbiologyMolecular Structure010405 organic chemistryChemistryDrug RepositioningTrypanosoma brucei rhodesiensebiology.organism_classificationCysteine proteaseMolecular biologyTrypanocidal Agents0104 chemical sciencesRatsMice Inbred C57BLCysteine Endopeptidases030104 developmental biologyBlood-Brain Barrierbiology.proteinMolecular MedicineEffluxJournal of medicinal chemistry
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Concentrations of urinary arsenic species in relation to rice and seafood consumption among children living in Spain.

2017

Inorganic arsenic (i-As) has been related to wide-ranging health effects in children, leading to lifelong concerns. Proportionally, dietary i-As exposure dominates in regions with low arsenic drinking water. This study aims to investigate the relation between rice and seafood consumption and urinary arsenic species during childhood and to assess the proportion of urinary i-As metabolites. Urinary arsenic species concentration in 400 4-year-old children living in four geographical areas of Spain, in addition to repeated measures from 100 children at 7 years of age are included in this study. Rice and seafood products intake was collected from children's parents using a validated food frequen…

0301 basic medicineMaleUrinary systemPopulationchemistry.chemical_elementFood ContaminationUrine010501 environmental sciencesBiology01 natural sciencesBiochemistryArticleArsenic03 medical and health scienceschemistry.chemical_compoundEnvironmental healthSurveys and QuestionnairesJournal ArticleHumansFood scienceeducationChildArsenic0105 earth and related environmental sciencesGeneral Environmental ScienceConsumption (economics)education.field_of_studyintegumentary systemfood and beveragesOryzaEnvironmental exposureEnvironmental ExposureDiet030104 developmental biologychemistrySeafoodSpainChild PreschoolEnvironmental PollutantsFemaleArsenobetaineFood contaminantEnvironmental MonitoringEnvironmental research
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

2019

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

0301 basic medicineMale[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyLOCAL TRANSLATIONMedizinmedicine.disease_causeDISEASEchemistry.chemical_compound0302 clinical medicinepolineuropathyCinètica enzimàticaGene Regulatory NetworksPyridoxal phosphateChildPyridoxal KinaseAdenosine triphosphate (ATP)Research ArticlesAged 80 and overMutationGene Regulatory NetworkPLASMAAutosomal recessive axonal polyneuropathyDisease gene identificationPyridoxal kinase3. Good healthSettore MED/26 - NEUROLOGIANeuropaties perifèriquesTreatment OutcomePolyneuropathieNeurologyChild PreschoolPyridoxal PhosphateRELIABILITYVitamin B ComplexFemaleLife Sciences & BiomedicinePolyneuropathyHumanResearch ArticleAdultAdolescentPDXKClinical NeurologyCHARCOT-MARIE-TOOTHCHARCOT-MARIE-TOOTH CMT NEUROPATHY SCORE LOCAL TRANSLATION DISEASE RELIABILITY; MECHANISMS DISCOVERY FRAMEWORK KINASE PLASMAMECHANISMS03 medical and health sciencesPolyneuropathiesAtrophy[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]KINASEmedicineHumansCMT NEUROPATHY SCOREPDXK mutationsPyridoxalDietary SupplementAgedPeripheral neuropathiesScience & Technology[SCCO.NEUR]Cognitive science/NeuroscienceEnzyme kineticsNeurosciencesFRAMEWORKmedicine.diseaseMolecular biology030104 developmental biologychemistryDISCOVERYDietary SupplementsMutationNeurosciences & NeurologyNeurology (clinical)Adenosine triphosphate030217 neurology & neurosurgeryAnnals of Neurology
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