Search results for "physiologic"

showing 10 items of 2593 documents

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

2017

GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle weakness in both the lower and upper extremities, with the quadriceps muscle relatively spared until the late stages of disease. To explore the role of SA synthesis in the disease, we conducted a comprehensive and systematic analysis of both free and total SA levels in a large cohort of GNEM patients and a mouse model. A sensitive LC/MS/MS assay was developed to quantify SA in serum and muscle h…

0301 basic medicineMaleBiopsylcsh:MedicineMuscle ProteinsBiochemistryPathogenesischemistry.chemical_compoundMice0302 clinical medicineTandem Mass SpectrometryMedicine and Health Scienceslcsh:ScienceMusculoskeletal SystemMultidisciplinarymedicine.diagnostic_testOrganic CompoundsMusclesGastrocnemius MusclesAnimal ModelsMuscle AnalysisMiddle AgedChemistrymedicine.anatomical_structureBioassays and Physiological AnalysisBiochemistryExperimental Organism SystemsPhysical SciencesFemalemedicine.symptomAnatomyResearch ArticleMuscle tissueAdultmedicine.medical_specialtyAdolescentMuscle TissueMouse ModelsSurgical and Invasive Medical ProceduresCreatineResearch and Analysis Methods03 medical and health sciencesYoung AdultModel OrganismsInternal medicineBiopsymedicineAnimalsHumansMyopathyMuscle SkeletalAgedHereditary inclusion body myopathybusiness.industrylcsh:ROrganic ChemistryChemical CompoundsBiology and Life SciencesProteinsmedicine.diseaseCreatineN-Acetylneuraminic AcidSialic acidDistal MyopathiesDisease Models Animal030104 developmental biologyEndocrinologyBiological TissuechemistrySkeletal Muscleslcsh:QbusinessN-Acetylneuraminic acid030217 neurology & neurosurgeryBiomarkersChromatography LiquidPLoS ONE
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Phenotypic and functional characterization of neutrophils and monocytes from patients with myelodysplastic syndrome by flow cytometry.

2016

Myelodysplastic syndrome (MDS) is a clonal stem cell disorder frequently associated with inefficient granulopoiesis showing dysplastic polymorphonuclear neutrophils (PMNs). To assess PMN functionality in MDS in a clinical routine setting, 30 MDS patients and ten healthy volunteers were analyzed for PMN and monocyte phenotype and function (degranulation, CD62L shedding, oxidative burst and phagocytosis) upon stimulation with lipopolysaccharide by multi-color flow cytometry (MCFC). Our data show a heterogeneous pattern for CD66, CD16 and CD64 expression on PMNs of MDS patients. CD62L shedding rate and CD66 degranulation were reduced. Interestingly, we detected correlations between the WHO ada…

0301 basic medicineMaleCell DegranulationNeutrophilsImmunologyCell SeparationBiologyGranulopoiesisCell DegranulationMonocytesFlow cytometryImmunophenotyping03 medical and health sciences0302 clinical medicineMonitoring ImmunologicmedicineHumans610 Medicine & healthAgedMonitoring PhysiologicCD64Aged 80 and overCD11b Antigenmedicine.diagnostic_testMyelodysplastic syndromesMonocyteReceptors IgGDegranulationhemic and immune systemsMiddle Agedmedicine.diseaseFlow CytometryPrognosis030104 developmental biologymedicine.anatomical_structureInternational Prognostic Scoring SystemMyelodysplastic SyndromesImmunologyFemale030215 immunologyCellular immunology
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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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Myeloid Cells Restrict MCMV and Drive Stress- Induced Extramedullary Hematopoiesis through STAT1

2019

Cytomegalovirus (CMV) has a high prevalence worldwide, is often fatal for immunocompromised patients, and causes bone marrow suppression. Deficiency of signal transducer and activator of transcription 1 (STAT1) results in severely impaired antiviral immunity. We have used cell- type restricted deletion of Stat1 to determine the importance of myeloid cell activity for the defense against murine CMV (MCMV). We show that myeloid STAT1 limits MCMV burden and infection- associated pathology in the spleen but does not affect ultimate clearance of infection. Unexpectedly, we found an essential role of myeloid STAT1 in the induction of extramedullary hematopoiesis (EMH). The EMH- promoting function…

0301 basic medicineMaleMuromegalovirusMyeloidIFN-II receptorReceptor Interferon alpha-betamonocytes signal transducer and activator of transcription Herpesviridae IFN-I receptor IFN-II receptor L-27 receptor TLR9 agonistmedicine.disease_causeVirus Replication0302 clinical medicineTLR9 agonistMyeloid CellsSTAT1Cells CulturedHerpesviridaeReceptors Interferonsignal transducer and activator of transcriptionvirus diseasesIL-27 receptorHerpesviridae InfectionsExtramedullary hematopoiesisKiller Cells NaturalHaematopoiesismedicine.anatomical_structureSTAT1 Transcription FactorBone marrow suppressionHematopoiesis ExtramedullaryFemalemonocytesBIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti.SpleenBiologyGeneral Biochemistry Genetics and Molecular BiologyHerpesviridaeArticle03 medical and health sciencesStress PhysiologicalmedicineAnimalsBIOMEDICINE AND HEALTHCARE. Basic Medical Sciences.Receptors Interleukinmedicine.diseaseMice Inbred C57BL030104 developmental biologyImmunologySTAT proteinbiology.protein030217 neurology & neurosurgeryGene DeletionSpleenIFN-I receptor
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Combined platelet-rich plasma and lipofilling treatment provides great improvement in facial skin-induced lesion regeneration for scleroderma patient…

2017

Background The use of stem cells, including mesenchymal stem cells (MSCs), for regenerative medicine is gaining interest for the clinical benefits so far obtained in patients. This study investigates the use of adipose autologous tissue in combination with platelet-rich plasma (PRP) to improve the clinical outcome of patients affected by systemic sclerosis (SSc). Methods Adipose-derived mesenchymal stem cells (AD-MSCs) and PRPs were purified from healthy donors and SSc patients. The multilineage differentiation potential of AD-MSCs and their genotypic–phenotypic features were investigated. A cytokine production profile was evaluated on AD-MSCs and PRPs from both healthy subjects and SSc pat…

0301 basic medicineMalePathologyCell- and Tissue-Based TherapyAdipose tissueMedicine (miscellaneous)Gene ExpressionRegenerative MedicineCell therapyCell therapySystemic sclerosiAdipose-derived mesenchymal stem cells; Cell therapy; Lipofilling; Mesenchymal stem cells; Platelet-rich plasma; Regenerative medicine; Systemic sclerosis; Medicine (miscellaneous); Molecular Medicine; Biochemistry Genetics and Molecular Biology (miscellaneous); Cell Biologylcsh:QD415-436skin and connective tissue diseasesMesenchymal stem cellSkinAged 80 and overlcsh:R5-920integumentary systemCell DifferentiationStromal vascular fractionMiddle Agedmedicine.anatomical_structureAdipose TissueMolecular MedicineCytokinesSystemic sclerosisFemaleStem celllcsh:Medicine (General)Adultmedicine.medical_specialtyPrimary Cell CultureConnective tissueNeovascularization PhysiologicMesenchymal Stem Cell TransplantationBiochemistry Genetics and Molecular Biology (miscellaneous)lcsh:Biochemistry03 medical and health sciencesPlatelet-rich plasmaAntigens CDAdipose-derived mesenchymal stem cellsmedicineHumansCell ProliferationAdipose-derived mesenchymal stem cellLipofillingScleroderma Systemicbusiness.industryRegeneration (biology)ResearchMesenchymal stem cellMesenchymal Stem CellsCell Biology030104 developmental biologyPlatelet-rich plasmaImmunologybusinessStem cell researchtherapy
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Circadian and Dopaminergic Regulation of Fatty Acid Oxidation Pathway Genes in Retina and Photoreceptor Cells.

2016

The energy metabolism of the retina might comply with daily changes in energy demand and is impaired in diabetic retinopathy-one of the most common causes of blindness in Europe and the USA. The aim of this study was to investigate putative adaptation of energy metabolism in healthy and diabetic retina. Hence expression analysis of metabolic pathway genes was performed using quantitative polymerase chain reaction, semi-quantitative western blot and immunohistochemistry. Transcriptional profiling of key enzymes of energy metabolism identified transcripts of mitochondrial fatty acid β-oxidation enzymes, i.e. carnitine palmitoyltransferase-1α (Cpt-1α) and medium chain acyl-CoA dehydrogenase (A…

0301 basic medicineMalePhysiologyDopamineMice ObeseGene Expressionlcsh:MedicineBiochemistryAcyl-CoA DehydrogenaseMice0302 clinical medicineCatecholaminesEndocrinologyMedicine and Health SciencesAminesEnzyme Chemistrylcsh:ScienceBeta oxidationMice KnockoutMice Inbred C3HMultidisciplinaryOrganic CompoundsDopaminergicFatty AcidsNeurochemistryDiabetic retinopathyNeurotransmittersCircadian RhythmChemistryCircadian Oscillatorsmedicine.anatomical_structurePhysical SciencesFemaleAnatomyOxidation-Reductionmedicine.drugResearch Articlemedicine.medical_specialtyBiogenic AminesEndocrine DisordersOcular AnatomyBiologyRetinaEnzyme Regulation03 medical and health sciencesOcular SystemInternal medicinemedicineGeneticsDiabetes MellitusAnimalsPhotoreceptor CellsGene RegulationCircadian rhythmCarnitineACADMRetinaDiabetic RetinopathyCarnitine O-PalmitoyltransferaseReceptor Melatonin MT1Receptors Dopamine D4Organic Chemistrylcsh:RChemical CompoundsBiology and Life Sciencesmedicine.diseaseHormonesMice Inbred C57BLMetabolic pathwayDisease Models Animal030104 developmental biologyEndocrinologyMetabolismMicroscopy FluorescenceMetabolic DisordersEnzymologylcsh:Qsense organsEnergy MetabolismPhysiological ProcessesChronobiology030217 neurology & neurosurgeryNeurosciencePLoS ONE
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Longitudinal Analysis of Serum Autoantibody-Reactivities in Patients with Primary Open Angle Glaucoma and Optic Disc Hemorrhage.

2015

Background The aim of our current investigation was to analyze the autoantibody-reactivities of primary open angle glaucoma patients with optic disc hemorrhage as possibly correlated to disease progression by means of a protein microarray approach. Methods Sera of patients with primary open angle glaucoma and optic disc hemorrhage (n = 16) were collected directly after study inclusion (0 weeks) and after 2 weeks, 4 weeks and 12 weeks. As a control group patients with primary open angle glaucoma (n = 18) were used (0 weeks and 12 weeks). Microarrays were incubated and occurring antibody-antigen-reactions were visualized with fluorescence labeled anti-human-IgG secondary antibodies. To detect…

0301 basic medicineMaleRetinal Ganglion CellsSerum ProteinsVisual acuitygenetic structuresEye DiseasesMicroarraysVisionVisual AcuityGlaucomalcsh:MedicineSocial SciencesPathogenesisPathology and Laboratory MedicineVascular MedicineBiochemistryPathogenesis0302 clinical medicineAnimal CellsMedicine and Health SciencesPsychologyLongitudinal Studieslcsh:ScienceNeuronsMultidisciplinarybiologyMiddle AgedPrimary and secondary antibodiesmedicine.anatomical_structureBioassays and Physiological AnalysisDisease ProgressionFemaleSensory PerceptionAntibodymedicine.symptomCellular TypesAnatomyGlaucoma Open-AngleOptic discResearch Articlemedicine.medical_specialtyGanglion CellsOpen angle glaucomaOcular AnatomyProtein Array AnalysisHemorrhageResearch and Analysis MethodsOptic Disc03 medical and health sciencesSigns and SymptomsDiagnostic MedicineOcular SystemOphthalmologymedicineHumansAgedAutoantibodiesbusiness.industrylcsh:RAutoantibodyBiology and Life SciencesAfferent NeuronsProteinsGlaucomaCell Biologymedicine.diseaseeye diseasesOphthalmology030104 developmental biologyCellular Neuroscience030221 ophthalmology & optometrybiology.proteinlcsh:Qsense organsbusinessNeurosciencePloS one
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Impact of the BioFire FilmArray gastrointestinal panel on patient care and infection control.

2020

Contains fulltext : 218876.pdf (Publisher’s version ) (Open Access) OBJECTIVES: Conventional routine PCR testing for gastrointestinal infections is generally based on pathogen related panels specifically requested by clinicians and can be erroneous and time consuming. The BioFire FilmArray gastrointestinal (GI) panel combines 22 pathogens into a single cartridge-based test on a random-access system, thereby reducing the turnaround time to less than 2 hours. We described the clinical impact of implementing the BioFire FilmArray on patients with gastroenteritis in our hospital. METHODS: Patients attending a Dutch tertiary care center (Radboud University Medical Center), from whom stool sample…

0301 basic medicineMaleTime Factorslnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Pathology and Laboratory MedicineTertiary carePolymerase Chain ReactionTertiary Care CentersFeces0302 clinical medicineClinical historyAntibioticsMedicine and Health SciencesMedicineInfection controlUniversity medicalGastrointestinal Infections030212 general & internal medicineChildNetherlandsAged 80 and overPotential impactMultidisciplinaryWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]AntimicrobialsQRDrugsGastrointestinal AnalysisMiddle AgedGastroenteritisBacterial PathogensBioassays and Physiological AnalysisMolecular Diagnostic TechniquesMedical MicrobiologyChild PreschoolViral PathogensVirusesMedicinePathogensResearch ArticleAdultmedicine.medical_specialtyIsolation (health care)AdolescentClostridium DifficileScience030106 microbiologyGastroenterology and HepatologyResearch and Analysis MethodsMicrobiologyPatient care03 medical and health sciencesYoung AdultDiagnostic MedicineInternal medicineMicrobial ControlHumansMicrobial PathogensAgedPharmacologyInfection ControlBacteriabusiness.industryGut BacteriaInfant NewbornOrganismsInfantBiology and Life SciencesPatient datalnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4]Patient CarebusinessPloS one
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Effect of a Nutritional Intervention on the Intestinal Microbiota of Vertically HIV-Infected Children: The Pediabiota Study

2020

This article belongs to the Special Issue Role of Prebiotics and Probiotics in Health and Disease.

0301 basic medicineMalemedicine.medical_specialtyChildren and adolescentsTime FactorsHuman immunodeficiency virus (HIV)HIV Infectionslcsh:TX341-641Diseasemedicine.disease_causedigestive systemArticle03 medical and health sciences0302 clinical medicineDouble-Blind MethodIntervention (counseling)Internal medicineHiv infectedmedicinemicrobiotaHumans030212 general & internal medicineChildSymbiosisNutrition and Dieteticsbusiness.industryMicrobiotaProbioticsHIVInfectious Disease Transmission VerticalGastrointestinal MicrobiomePilots030104 developmental biologyPrebioticsAnti-Retroviral Agentschildren and adolescentsChild PreschoolDietary SupplementsVertical transmissionDysbiosisFemalevertical transmissionbusinessChild Nutritional Physiological Phenomenalcsh:Nutrition. Foods and food supplyFood ScienceNutrients
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Interhemispheric inhibition is dynamically regulated during action observation

2016

International audience; It is now well established that the motor system plays a pivotal role in action observation and that the neurophysiological processes underlying perception and action overlaps. However, while various experiments have shown a specific facilitation of the contralateral motor cortex during action observation, no information is available concerning the dynamics of interhemispheric interactions. The aim of the present study was, therefore, to assess interhemispheric inhibition during the observation of others' actions. We designed a transcranial magnetic stimulation (TMS) experiment in which we measured both corticospinal excitability and interhemispheric inhibition, this…

0301 basic medicineMalemedicine.medical_treatmentcorpus-callosumPyramidal TractsCorticospinal excitabilitFunctional Laterality0302 clinical medicinehuman motor cortextranscallosal inhibitionInterhemispheric inhibitiontranscranial magnetic stimulationAction observation Corticospinal excitabilit; Interhemispheric inhibition Movement kinematics Transcranial magnetic stimulation Adult Evoked Potentials Motor Female Functional Laterality Hand Strength Humans Male Motor Cortex Movement Muscle Skeletal Pyramidal Tracts Rest Transcranial Magnetic Stimulation Young Adult Neuropsychology and Physiological Psychology Experimental and Cognitive Psychology Cognitive NeuroscienceEvoked Potentialsvoluntary movementHand StrengthMotor CortexAction observationSkeletalCorticospinal excitabilitymedicine.anatomical_structureNeuropsychology and Physiological PsychologyMotormultiple-sclerosiscortical areasMuscleFemalePsychologyMotor cortexAdultCognitive NeuroscienceMovementRestipsilateral silent periodExperimental and Cognitive PsychologyInhibitory postsynaptic potential03 medical and health sciencesYoung AdultMotor systemmedicineHumansMuscle SkeletalPyramidal tractsNeurophysiologyEvoked Potentials MotorTranscranial magnetic stimulation030104 developmental biologyAction (philosophy)[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Silent periodMovement kinematicsNeuroscienceintracortical circuits030217 neurology & neurosurgery
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