Search results for "DAS"

showing 10 items of 4164 documents

Impact of NADPH oxidase functional polymorphisms in acute myeloid leukemia induction chemotherapy.

2016

Efficacy and toxicity of anthracycline treatment in acute myeloid leukemia (AML) is mediated by reactive oxygen species (ROS). NADPH oxidase is the major endogenous source of ROS and a key mediator of oxidative cardiac damage. The impact of NADPH oxidase polymorphisms (CYBA:rs4673, NCF4:rs1883112, RAC2:rs13058338) was evaluated in 225 adult de novo AML patients. Variant alleles of NCF4 and RAC2 were related to higher complete remission (P=0.035, P=0.016), and CYBA homozygous variant showed lower overall survival with recessive model (P=0.045). Anthracycline-induced cardiotoxicity was associated to NCF4 homozygous variant (P=0.012) and CYBA heterozygous genotype (P=0.027). Novel associations…

0301 basic medicineMaleAnthracyclinePharmacologyBiologyPolymorphism Single NucleotideNephrotoxicity03 medical and health sciences0302 clinical medicineAntineoplastic Combined Chemotherapy ProtocolsGeneticsHumansAgedRetrospective StudiesPharmacologychemistry.chemical_classificationReactive oxygen speciesCardiotoxicityNADPH oxidaseRemission InductionMyeloid leukemiaNADPH OxidasesInduction ChemotherapyMiddle Agedrac GTP-Binding ProteinsRac GTP-Binding ProteinsLeukemia Myeloid Acute030104 developmental biologychemistry030220 oncology & carcinogenesisToxicitybiology.proteinMolecular MedicineFemaleReactive Oxygen SpeciesThe pharmacogenomics journal
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Initial serum thyroid peroxidase antibodies and long-term outcomes in SREAT.

2015

Objective To quantify clinical outcome in patients with steroid-responsive encephalopathy and associated autoimmune thyroiditis (SREAT) after the acute phase and explore potential associations of initial serum thyroid peroxidase antibody titers (TPO-Abs) with outcome. Materials and methods Retrospective chart review of patients diagnosed with SREAT between 01/2005 and 05/2014 in a tertiary care center and followed in an affiliated autoimmune outpatient clinic. Outcome was quantified using the extended Glasgow Outcome Scale (GOS-E). We calculated Pearson's correlation coefficients to quantify associations with clinical outcome at follow-up. Results Among 134 patients with encephalopathy of u…

0301 basic medicineMaleAnti-Inflammatory AgentsGlasgow Outcome Scaleblood [Iodide Peroxidase]0302 clinical medicineblood [Hashimoto Disease]blood [Encephalitis]Outpatient clinicHashimoto Diseasebiologytherapy [Hashimoto Disease]Glasgow Outcome Scaletherapy [Encephalitis]therapeutic use [Anti-Inflammatory Agents]General MedicineMiddle Agedblood [Thyroiditis Autoimmune]Magnetic Resonance Imagingtherapy [Thyroiditis Autoimmune]Treatment OutcomeNeurologyEncephalitisFemaleSteroidsImmunosuppressive AgentsAdultmedicine.medical_specialtyEncephalopathyHashimoto DiseaseIodide PeroxidaseAutoimmune thyroiditisanalysis [Autoantibodies]03 medical and health sciencesimmunology [Thyroiditis Autoimmune]Thyroid peroxidaseInternal medicinemedicineHumansddc:610immunology [Encephalitis]therapeutic use [Steroids]AgedAutoantibodiesRetrospective Studiesbusiness.industrytherapeutic use [Methotrexate]Thyroiditis AutoimmuneRetrospective cohort studymedicine.diseasetherapeutic use [Immunosuppressive Agents]immunology [Hashimoto Disease]030104 developmental biologyMethotrexateImmunologybiology.proteinEtiologyNeurology (clinical)businessimmunology [Iodide Peroxidase]030217 neurology & neurosurgeryFollow-Up StudiesActa neurologica Scandinavica
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Effects of a Lactobacillus salivarius mixture on performance, intestinal health and serum lipids of broiler chickens

2017

The ban or severe restriction on the use of antibiotics in poultry feeds to promote growth has led to considerable interest to find alternative approaches. Probiotics have been considered as such alternatives. In the present study, the effects of a Lactobacillus mixture composed from three previously isolated Lactobacillus salivarius strains (CI1, CI2 and CI3) from chicken intestines on performance, intestinal health status and serum lipids of broiler chickens has been evaluated. Supplementation of the mixture at a concentration of 0.5 or 1 g kg-1 of diet to broilers for 42 days improved body weight, body weight gain and FCR, reduced total cholesterol, LDL-cholesterol and triglycerides, inc…

0301 basic medicineMaleAntibioticsBlood lipidslcsh:MedicineWeight GainBiochemistryPoultrylaw.inventionProbioticRandom AllocationlawLactobacillusMedicine and Health SciencesGamefowlFood sciencelcsh:ScienceBifidobacteriumGlucuronidaseMultidisciplinarybiologyLactobacillus salivariusbeta-Glucosidasefood and beveragesAgriculture04 agricultural and veterinary sciencesLipidsIntestinesCholesterolVertebratesAnatomyResearch Articleanimal structuresmedicine.drug_classReal-Time Polymerase Chain ReactionMicrobiologyBirds03 medical and health sciencesmedicineAnimalsNutritionBacteriaProbioticslcsh:RGut Bacteria0402 animal and dairy scienceBroilerOrganismsBiology and Life Sciencesbiology.organism_classification040201 dairy & animal scienceAnimal FeedDietGastrointestinal MicrobiomeGastrointestinal TractLactobacillus030104 developmental biologyFowlAmniotesLigilactobacillus salivariuslcsh:QBifidobacteriumChickensDigestive SystemBacteriaPLoS ONE
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Venlafaxine prevents morphine antinociceptive tolerance: The role of neuroinflammation and the l-arginine-nitric oxide pathway.

2017

Abstract Opioid-induced neuroinflammation and the nitric oxide (NO) signal-transduction pathway are involved in the development of opioid analgesic tolerance. The antidepressant venlafaxine (VLF) modulates NO in nervous tissues, and so we investigated its effect on induced tolerance to morphine, neuroinflammation, and oxidative stress in mice. Tolerance to the analgesic effects of morphine were induced by injecting mice with morphine (50 mg/kg) once a day for three consecutive days; the effect of co-administration of VLF (5 or 40 mg/kg) with morphine was similarly tested in a separate group. To determine if the NO precursor l -arginine hydrochloride ( l -arg) or NO are involved in the effec…

0301 basic medicineMaleArginineAnalgesicPharmacologymedicine.disease_causeNitric oxideProinflammatory cytokine03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineDevelopmental NeurosciencemedicineAnimalsEnzyme InhibitorsNitritesPain Measurementchemistry.chemical_classificationGlutathione PeroxidaseDose-Response Relationship DrugMorphineGlutathione peroxidaseVenlafaxine HydrochlorideBrainMalondialdehydeAnalgesics OpioidDisease Models AnimalOxidative Stress030104 developmental biologyNG-Nitroarginine Methyl EsterNeurologychemistryMorphineAntidepressive Agents Second-GenerationCytokinesLipid PeroxidationMorphine Dependence030217 neurology & neurosurgeryOxidative stressmedicine.drugSignal TransductionExperimental neurology
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

2019

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10…

0301 basic medicineMaleCandidate geneMultifactorial InheritanceImaging geneticsQH301 BiologyLANGUAGEGenome-wide association study3124 Neurology and psychiatryCANDIDATE GENESDyslexiaCohort StudiesREADING-DISABILITYMOLECULAR-GENETICS0302 clinical medicineCognitionAUTOMATIZED NAMING RANChildSUSCEPTIBILITY LOCUSRapid automatized namingR2CSHORT-TERM-MEMORY~DC~IMAGING-GENETICSRJ Pediatrics[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesPsychiatry and Mental healthDyslexia/geneticsAnxietyFemalemedicine.symptomBDCRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryClinical psychologyNeuroinformaticsAdultReading disabilityAdolescentGenotypeRJPolymorphism Single NucleotideArticlelcsh:RC321-571ENVIRONMENTAL-INFLUENCES03 medical and health sciencesCellular and Molecular NeuroscienceQH301Young AdultmedicinedysleksiaHumansGenetic Predisposition to Diseaselcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological Psychiatrygeenitbusiness.industryDyslexiaDASmedicine.diseaseComorbiditypredictors030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsRC0321DEVELOPMENTAL DYSLEXIAbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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Endothelial Dab1 signaling orchestrates neuro-glia-vessel communication in the central nervous system.

2018

Developing the bloodbrain barrier During development, signals need to be dynamically integrated by endothelial cells, neurons, and glia to achieve functional neuro-glia-vascular units in the central nervous system. During cortical development, neuronal Dab1 and ApoER2 receptors respond to a guidance cue called reelin. Studying mice, Segarra et al. found that Dab1 and ApoER2 are also expressed in endothelial cells (see the Perspective by Thomas). The integration of reelin signaling in endothelial cells and neurons facilitates the communication between vessels, glia, and neurons that is necessary for the correct positioning of neurons during cortical development. This integration is also impo…

0301 basic medicineMaleCell signalingLow-density lipoprotein receptor-related protein 8EndotheliumCell Adhesion Molecules NeuronalCentral nervous systemNeovascularization PhysiologicNerve Tissue ProteinsCell Communication03 medical and health sciencesMiceCell MovementmedicineAnimalsReelinLDL-Receptor Related ProteinsCerebral CortexMice KnockoutNeuronsRetinaExtracellular Matrix ProteinsMultidisciplinarybiologyIntegrin beta1Serine EndopeptidasesRetinal VesselsDAB1Reelin Protein030104 developmental biologymedicine.anatomical_structurenervous systemCerebral cortexBlood-Brain Barrierbiology.proteinFemaleEndothelium VascularLamininNeuroscienceNeurogliaGene DeletionSignal TransductionScience (New York, N.Y.)
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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

2021

International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD.Methods and findings: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi p…

0301 basic medicineMaleDelphi TechniqueEndocrinology Diabetes and Metabolism[SDV]Life Sciences [q-bio]Delphi methodDisease030105 genetics & heredityKidneyBiochemistry0302 clinical medicineEndocrinologyClinical outcomesClinical Trials as TopicGlobosidesTrihexosylceramidesMiddle Aged3. Good healthClinical trialIsoenzymesTreatment OutcomeInclusion and exclusion criteriaSecondary Outcome MeasureFemaleAdultmedicine.medical_specialtyConsensusLysosomal storage disorders03 medical and health sciencesQuality of life (healthcare)Inherited metabolic disordersGeneticsmedicineHumansEnzyme Replacement TherapyIntensive care medicineMolecular BiologyFabry diseaseSphingolipidsbusiness.industryClinical study designmedicine.diseaseFabry diseaseClinical trialDelphi consensusalpha-GalactosidaseQuality of LifeFabry DiseaseGlycolipidsbusiness030217 neurology & neurosurgeryMolecular genetics and metabolism
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Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations

2016

This work was supported by Spanish Ministry of Economy and Competitiveness (MINECO) Grants SAF2010-16044 and SAF2013-46663-R (to V.A.), SAF2011-30312 and SAF2014-58286-C2-1-R (to L.H.-M.), SAF2011-30088 (to E.D.), and SAF2014-52413-R (to C.L.-O.) and Fondo de Investigación Sanitaria del Instituto de Salud Carlos III Grants RD12/0042/0028 (to V.A.), RD12/0042/0011 (to J.T.), and RD12/0042/0002 (to L.H.-M.), with cofunding from the Fondo Europeo de Desarrollo Regional and the Progeria Research Foundation. J.A.G. is the recipient of a U-Mobility Grant from the Marie Curie cofunding of Regional, National and International Programme (Grant 246550). The Instituto Universitario de Oncología is sup…

0301 basic medicineMaleHutchinson–Gilford progeria syndrome calcium handling connexin43 prelamin A progerinElectrònica en cardiologia030204 cardiovascular system & hematologyPathogenesisCiencias Biomedicas0302 clinical medicineProgeriaCardiac Conduction System DiseasefisiologiapatologíaTecnología médicaChildCiencias médicasMice KnockoutProgeriaprelamin AMultidisciplinaryintegumentary systemMetalloendopeptidasesHeartProgerinHutchinson-Gilford progeria syndrome3. Good health:Enginyeria biomèdica::Electrònica biomèdica::Electrònica en cardiologia [Àrees temàtiques de la UPC]Sarcoplasmic Reticulummedicine.anatomical_structurePNAS PlusChild Preschoolcardiovascular systemNuclear laminaFemalemedicine.symptomBradycardiaAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesAdolescentBiology03 medical and health sciencesQRS complexYoung AdultElectrònica mèdicaInternal medicinemedicineAnimalsHumansPR intervalHutchinson–Gilford progeria syndromeNuclear LaminaMyocardiumMembrane Proteinsnutritional and metabolic diseasesArrhythmias Cardiacmedicine.diseaseMedical electronicsconnexin43Mice Inbred C57BL030104 developmental biologyEndocrinologyVentricleprogerinConnexin 43calcium handlingsistema cardiovascularCalcium
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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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Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.

2018

Abstract Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some un…

0301 basic medicineMalePediatricsmedicine.medical_specialtyAdolescentDevelopmental DisabilitiesDisease03 medical and health sciences0302 clinical medicinemedicineJuvenileHumansMuscle SkeletalGenetics (clinical)business.industryGlycogen Storage Disease Type IIGenetic variantsalpha-Glucosidases030104 developmental biologyJuvenile onsetNeurologyPediatrics Perinatology and Child HealthMutationNeurology (clinical)Glucan 14-alpha-Glucosidasebusiness030217 neurology & neurosurgeryNeuromuscular disorders : NMD
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