Search results for "TOC"

showing 10 items of 14693 documents

Transcriptome Analysis Identifies Doublesex and Mab-3 Related Transcription Factor (DMRT3) in Nasal Polyp Epithelial Cells of Patients Suffering from…

2021

Background: Aspirin-exacerbated respiratory disease (AERD) is a syndrome characterised by chronic rhinosinusitis, nasal polyps, asthma and aspirin intolerance. An imbalance of eicosanoid metabolism with anover-production of cysteinyl leukotrienes (CysLTs) has been associated with AERD. However, the precise mechanisms underlying AERD are unknown. Objective: To establish the transcriptome of the nasal polyp airway epithelial cells derived from AERD patients to discover gene expression patterns in this disease. Methods: Nasal airway epithelial cells were isolated from 12 AERD polyps and 8 AERD non-polyp nasal mucosa samples as controls from the same subjects. Utilising the Illumina HiSeq 2500 …

0301 basic medicineMaleMucous membrane of noseBiochemistryDMRT3TranscriptomeTranscription Factors TFII0302 clinical medicinetranscriptome analysisGene expressionMedicineNasal polypsRNA-SeqEicosanoid metabolismAnti-Inflammatory Agents Non-SteroidalMiddle AgedImmunohistochemistryQR1-502030220 oncology & carcinogenesisImmunohistochemistryFemalemedicine.symptomAdultLeukotrienesAspirin-exacerbated respiratory diseaseInflammationMicrobiologyArticle03 medical and health sciencesImmune systemNasal Polypsotorhinolaryngologic diseasesHumansSinusitisMolecular BiologySkin TestsAspirinbusiness.industryGene Expression Profilingnasal airwayEpithelial Cellsmedicine.diseaseRespiration Disorders030104 developmental biologyImmunologyChronic DiseaseNasal LavageAsthma Aspirin-InducedbusinessTranscriptomeBiomolecules
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Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

2020

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…

0301 basic medicineMaleNF-KAPPA-BMedizinlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Fluorescent Antibody TechniqueAutoimmunityDiseaseNUCLEAR-FACTORKaplan-Meier Estimatemedicine.disease_causeHypogammaglobulinemia0302 clinical medicineNFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivityHDE PEDImmunology and Allergyvariants and mutationsNF-κB1-related phenotypeImmunodeficiencyIMMUNODEFICIENCY*NF-?B1-related phenotypeNFKB1 variants and mutations1184 Genetics developmental biology physiologycommon variable immunodeficiencyDisease ManagementMiddle AgedNF-kappa B1-related phenotypereduced penetrancePrognosisPenetranceImmunohistochemistryMagnetic Resonance Imaging3. Good healthPhenotypeNFKB1 variant*NFKB1 variant*common variable immunodeficiencyFemaleHaploinsufficiency*reduced penetranceNFKB1 mutationAdultHeterozygote*NFKB1 mutationImmunologyHAPLOINSUFFICIENCYArticle03 medical and health sciencesvariable expressivityautosomal dominantmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesAgedbusiness.industryCommon variable immunodeficiencyNF-kappa B p50 SubunitNF-KAPPA-B1Immune dysregulationmedicine.diseaseautosomal dominant inheritance030104 developmental biologyBiological Variation PopulationImmunologyCELLSMutation*autosomal dominantPrimary immunodeficiency3111 BiomedicinebusinessTomography X-Ray ComputedBiomarkers030215 immunology
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Ibrutinib, obinutuzumab, and venetoclax in relapsed and untreated patients with mantle cell lymphoma: a phase 1/2 trial.

2020

Abstract Ibrutinib, obinutuzumab, and venetoclax demonstrate synergy in preclinical models of mantle cell lymphoma (MCL). OAsIs (NCT02558816), a single-arm multicenter prospective phase 1/2 trial, aimed to determine the maximum tolerated dose of venetoclax in combination with fixed doses of ibrutinib and obinutuzumab, in relapsed MCL patients. At the venetoclax MTD, extension cohorts were opened for relapsed and untreated patients. Safety and efficacy were secondary objectives. Minimal residual disease (MRD) was assessed by allele-specific oligonucleotide quantitative polymerase chain reaction. Between 14 October 2015 and 29 May 2018, 48 patients were enrolled. No dose-limiting toxicity was…

0301 basic medicineMaleNeoplasm Residualmedicine.medical_treatmentImmunoglobulin Variable RegionHematopoietic stem cell transplantationKaplan-Meier EstimateLymphoma Mantle-CellBiochemistryGastroenterologychemistry.chemical_compound0302 clinical medicinePiperidinesObinutuzumabAntineoplastic Combined Chemotherapy ProtocolsProspective StudiesProspective cohort studyAged 80 and overSulfonamidesHematopoietic Stem Cell TransplantationHematologyMiddle AgedCombined Modality TherapyProgression-Free Survival3. Good healthTreatment Outcome030220 oncology & carcinogenesisIbrutinibFemaleImmunoglobulin Heavy Chainsmedicine.medical_specialtyMaximum Tolerated DoseImmunologyAntibodies Monoclonal Humanized03 medical and health sciencesInternal medicinemedicineHumansProgression-free survivalAgedVenetoclaxbusiness.industryAdenineCell Biologymedicine.diseaseBridged Bicyclo Compounds HeterocyclicGenes p53Minimal residual diseaseHematologic Diseases030104 developmental biologychemistryMutationMantle cell lymphomabusinessFollow-Up StudiesBlood
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Marathon Race Affects Neutrophil Surface Molecules: Role of Inflammatory Mediators

2016

The fatigue induced by marathon races was observed in terms of inflammatory and immunological outcomes. Neutrophil survival and activation are essential for inflammation resolution and contributes directly to the pathogenesis of many infectious and inflammatory conditions. The aim of this study was to investigate the effect of marathon races on surface molecules related to neutrophil adhesion and extrinsic apoptosis pathway and its association with inflammatory markers. We evaluated 23 trained male runners at the Sao Paulo International Marathon 2013. The following components were measured: hematological and inflammatory mediators, muscle damage markers, and neutrophil function. The maratho…

0301 basic medicineMaleNeutrophilsPhysiologylcsh:MedicineApoptosisDNA fragmentationPathology and Laboratory MedicineBiochemistryNeutrophil ActivationRunningPathogenesischemistry.chemical_compoundWhite Blood CellsLeukocyte Count0302 clinical medicineAnimal CellsImmune PhysiologyMedicine and Health Scienceslcsh:ScienceImmune ResponseInnate Immune SystemMultidisciplinarybiologyCell DeathInterleukinHematologyFas receptorBody FluidsNucleic acidsBloodHematocritCell ProcessesAntigens SurfaceCytokinesTumor necrosis factor alphamedicine.symptomCellular TypesAnatomyInflammation MediatorsResearch ArticleAdultCell SurvivalImmune CellseducationImmunologyInflammation03 medical and health sciencesSigns and SymptomsDiagnostic MedicineLactate dehydrogenasemedicineGeneticsHumansLeukocyte RollingHemoglobinInflammationBlood Cellsbusiness.industrylcsh:RBiology and Life SciencesProteins030229 sport sciencesCell BiologyDNAMolecular DevelopmentBlood Counts030104 developmental biologychemistryApoptosisImmune SystemImmunologybiology.proteinCreatine kinaselcsh:Qbusinesshuman activitiesDevelopmental BiologyPLoS ONE
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Oestrus ovis external ophtalmomyiasis : a case report in Burgundy France

2018

Background External ophtalmomyiasis (EOM) is a zoonosis related to the presence of Oestrus ovis larvae at the ocular level in small ruminants (i.e. ovine, caprine). In humans, EOM is a rare cosmopolitan disorder, mostly described in warm and dry rural areas in patients living close to livestock areas. In metropolitan France (excluding Corsica), EOM is an exceptional disease with less than 25 cases recorded since 1917. Case presentation We report a case of EOM in a 19-years old man in the last week of September 2016 in Burgundy. Conclusion The diagnosis of an EOM in Burgundy, a French region described as cold and humid, is surprising and could be due to a more marked climatic warming during …

0301 basic medicineMaleOrganes des sensgenetic structuresCase ReportEyedipteraOestrus ovis0302 clinical medicinelcsh:OphthalmologyOestrus ovisGenusEye Infections ParasiticbiologyZoonosisGeneral Medicine030108 mycology & parasitologyBurgundy regionLivestockepidemiologyFranceBurgundy[SDV.MP.PAR] Life Sciences [q-bio]/Microbiology and Parasitology/Parasitologysheep030231 tropical medicineSensory OrgansZoologyMédecine humaine et pathologielinne03 medical and health sciencesMyiasisYoung AdultmedicineAnimalsHumansIn patient[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrgansClimatic warmingOphtalmomyiasisophthalmomyiasisbusiness.industrybiology.organism_classificationmedicine.diseaseeye diseasesMetropolitan FranceOphthalmologylcsh:RE1-994Human health and pathologysense organsbusinessoestridae[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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The burden and epidemiology of community-acquired central nervous system infections: a multinational study

2017

Ghaydaa, Shehata/0000-0002-3631-893X; Radic, Ljiljana Betica/0000-0002-8778-106X; Silva-Pinto, Andre/0000-0002-2077-3356; Cascio, Antonio/0000-0002-1992-1796; Bossi, Paolo/0000-0003-0135-0224; Stebel, Roman/0000-0001-6922-4465; Namani, Sadie/0000-0002-2411-8623; Chan, Phillip/0000-0002-4071-4409; Hargreaves, Sally/0000-0003-2974-4348; Artuk, Cumhur/0000-0003-0827-990X; Harxhi, Arjan/0000-0001-8518-7377; Larsen, Lykke/0000-0002-4113-4182; Uysal, Serhat/0000-0002-4294-5999 WOS: 000407582200010 PubMed: 28397100 Risk assessment of central nervous system (CNS) infection patients is of key importance in predicting likely pathogens. However, data are lacking on the epidemiology globally. We perfor…

0301 basic medicineMaleOutcome AssessmentAdverse Clinical Outcomemedicine.disease_causeCentral nervous system infections ; burden ; epidemiologyMedical microbiologyCentral Nervous System InfectionsOutcome Assessment Health CareEpidemiology80 and overAged 80 and overbiologyAge FactorsGeneral MedicineMiddle AgedCommunity-Acquired InfectionsInfectious Diseases[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyPopulation SurveillanceFemaleNeuroborreliosisHuman Immunodeficiency VirusMicrobiology (medical)Adultmedicine.medical_specialtyTuberculosisSettore MED/17 - Malattie Infettive030106 microbiologyBrain AbscessCentral Nervous System InfectionNeurosyphilisMycobacterium tuberculosis03 medical and health sciencesYoung AdultInternal medicineStreptococcus pneumoniaeJournal ArticlemedicineHumansAgedRetrospective Studiesbusiness.industryVaricella zoster virusmedicine.diseasebiology.organism_classificationHealth CareCross-Sectional StudiesCentral Nervous System DiseaseBrain AbsceHuman Immunodeficiency ViruImmunologybusiness
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Melatonin enhances neural stem cell differentiation and engraftment by increasing mitochondrial function

2017

Mendivil-Perez, Miguel et al.

0301 basic medicineMaleParkinson's diseaseCellMice TransgenicBiologyMitochondrionTransplantmedicine.disease_causeMelatonin03 medical and health sciencesMice0302 clinical medicineEndocrinologyAlzheimer DiseasemedicineAnimalsreproductive and urinary physiologyMelatoninNeuronsNeural stem cellsATP synthaseGraft SurvivalCell Differentiationmedicine.diseaseAntigens DifferentiationNeural stem cellnervous system diseasesCell biologyMitochondriaTransplantation030104 developmental biologymedicine.anatomical_structurenervous systemOxidative stressbiology.proteinParkinson’s diseaseNeuroscienceAlzheimer’s disease030217 neurology & neurosurgeryOxidative stressmedicine.drug
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Hnf4α is a key gene that can generate columnar metaplasia in oesophageal epithelium

2017

AbstractBarrett's metaplasia is the only known morphological precursor to oesophageal adenocarcinoma and is characterized by replacement of stratified squamous epithelium by columnar epithelium. The cell of origin is uncertain and the molecular mechanisms responsible for the change in cellular phenotype are poorly understood. We therefore explored the role of two transcription factors, Cdx2 and HNF4α in the conversion using primary organ cultures. Biopsy samples from cases of human Barrett's metaplasia were analysed for the presence of CDX2 and HNF4α. A new organ culture system for adult murine oesophagus is described. Using this, Cdx2 and HNF4α were ectopically expressed by adenoviral infe…

0301 basic medicineMalePathologyCancer ResearchEsophageal NeoplasmsBiopsyEpitheliumMice0302 clinical medicineMetaplasiaCDX2 Transcription FactorCDX2CàncerOesophageal cancerAnatomyNeoplasm ProteinsBarrett's oesophagusGene Expression Regulation Neoplasticmedicine.anatomical_structureHepatocyte Nuclear Factor 4Loricrin/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being030211 gastroenterology & hepatologymedicine.symptomVillinHepatocyte nuclear factor 4-alphaAdultmedicine.medical_specialtyStratified squamous epitheliumBiologyAdenocarcinomaOrgan cultureArticle03 medical and health sciencesBarrett EsophagusEsophagusOrgan Culture TechniquesSDG 3 - Good Health and Well-beingmedicineAnimalsHumansMolecular BiologyHNF4αMetaplasiaHistologiaCell BiologyEpitheliumdigestive system diseases030104 developmental biologybiology.proteinEctopic expressionDevelopmental Biology
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Dietary salt promotes ischemic brain injury and is associated with parenchymal migrasome formation

2018

Sodium chloride promotes vascular fibrosis, arterial hypertension, pro-inflammatory immune cell polarization and endothelial dysfunction, all of which might influence outcomes following stroke. But despite enormous translational relevance, the functional importance of sodium chloride in the pathophysiology of acute ischemic stroke is still unclear. In the current study, we show that high-salt diet leads to significantly worse functional outcomes, increased infarct volumes, and a loss of astrocytes and cortical neurons in acute ischemic stroke. While analyzing the underlying pathologic processes, we identified the migrasome as a novel, sodium chloride-driven pathomechanism in acute ischemic …

0301 basic medicineMalePathologyMacroglial CellsSodium ChlorideVascular MedicineBrain IschemiaMice0302 clinical medicineCytosolAnimal CellsMedicine and Health SciencesMedicineEndothelial dysfunctionStrokeNeuronsCerebral CortexCerebral IschemiaMultidisciplinaryQRPathophysiologyStrokeChemistryNeurologyPhysical SciencesImmunohistochemistryMedicineCellular Structures and OrganellesCellular TypesIntracellularResearch Articlemedicine.medical_specialtyScienceCerebrovascular DiseasesGlial Cells03 medical and health sciencesImmune systemIn vivoParenchymaAnimalscardiovascular diseasesVesiclesSodium Chloride DietaryMicroglial CellsNutritionIschemic StrokeOrganellesbusiness.industryChemical CompoundsBiology and Life SciencesCell Biologymedicine.diseaseDiet030104 developmental biologyCellular NeuroscienceAstrocytesBrain InjuriesSaltsbusiness030217 neurology & neurosurgeryNeurosciencePLoS ONE
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Short-Term Effects of Microglia-Specific Mitochondrial Dysfunction on Amyloidosis in Transgenic Models of Alzheimer's Disease.

2018

Reduction of mitochondrial activity is a subtle and early event in the pathogenesis of Alzheimer’s disease. Mitochondrial damage and consequentially enhanced production of reactive oxygen species is particularly occurring in the vicinity of amyloid plaques. Since all cells are affected by mitochondrial damage, analyses of cell type-specific effects are challenging. To study the impact of mitochondrial alterations on microglial activity in a homogeneous genetic background, we generated bone marrow chimeras of irradiated 46-days-old APP-transgenic mice. For reconstitution, bone marrow from CX3CR1-eGFP mice with mitochondria of either non-obese diabetic or C57BL/6J animals was utilized. Succes…

0301 basic medicineMalePathologymedicine.medical_specialtyMitochondrial DiseasesAmyloidCellGreen Fluorescent ProteinsCX3C Chemokine Receptor 1Mice TransgenicPlaque AmyloidBiologyMitochondrionPathogenesis03 medical and health sciencesAmyloid beta-Protein Precursor0302 clinical medicineAlzheimer DiseaseMice Inbred NODCX3CR1medicinePresenilin-1AnimalsHumansMicrogliaGeneral NeuroscienceAmyloidosisCalcium-Binding ProteinsMicrofilament ProteinsGeneral MedicineAmyloidosismedicine.diseaseMitochondriaMice Inbred C57BLPsychiatry and Mental healthClinical PsychologyDisease Models Animal030104 developmental biologymedicine.anatomical_structureFemaleBone marrowMicrogliaGeriatrics and Gerontology030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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