Search results for " Autoimmune diseases"

showing 5 items of 15 documents

The Role of Exosomes Derived From Mesenchymal Stromal Cells in Dermatology

2021

This study has been funded by the Carlos III Health Institute of Spain through the PI13/02576 and PI17/02083 projects [cofunded by European Regional Development Fund "A way to make Europe" and Andalusian Regional Government Finance (SAS PI-0458-2016)]. The work of MQ-V was supported by a predoctoral fellowship (BOE 22/10/2019) from the Spanish Ministry of Science, Innovation and Universities. This study is part of her doctoral research in the Biomedicine program at the University of Granada.

Mesenchymal stem cell-derived exosomesregenerative medicinemesenchymal stem cell-derived exosomesReviewimmunomodulationRegenerative medicineskin autoimmune diseasesImmunomodulationCell and Developmental Biologyexosomes-based therapyMedicineSkin wound healinglcsh:QH301-705.5Skin repairintegumentary systembusiness.industryRegeneration (biology)Mesenchymal stem cellCell BiologyExosomes-based therapyMicrovesicleslcsh:Biology (General)skin wound healingRegenerative medicineCancer researchSkin autoimmune diseasesWound healingbusinessDevelopmental BiologyFrontiers in Cell and Developmental Biology
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…

Models MolecularInterferon-Induced Helicase IFIH1Molecular Sequence DataHDE NEU PEDElectrophoretic Mobility Shift AssayBiologymedicine.disease_causeNervous System MalformationsReal-Time Polymerase Chain ReactionArticleDEAD-box RNA HelicasesImmune systemAutoimmune Diseases of the Nervous SystemDownregulation and upregulationAnalysis of Variance; Autoimmune Diseases of the Nervous System; Base Sequence; DEAD-box RNA Helicases; Electrophoretic Mobility Shift Assay; Exome; HEK293 Cells; Humans; Interferon Type I; Microsatellite Repeats; Molecular Sequence Data; Mutation; Nervous System Malformations; Real-Time Polymerase Chain Reaction; Sequence Analysis DNA; Signal Transduction; Spectrum Analysis; Models Molecular; Phenotype; GeneticsModelsInterferonGeneticsmedicineHumansExomeMutationAnalysis of VarianceBase SequenceSpectrum AnalysisMolecularRNAMDA5DNASequence Analysis DNAMolecular biology3. Good healthInterferon Tipo IHEK293 CellsPhenotypeInterferon Type IMutationCancer researchSignal transductionSequence AnalysisInterferon type Imedicine.drugMicrosatellite RepeatsSignal TransductionNature genetics
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Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

2019

International audience; Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional g…

OncologyMaleMultifactorial InheritanceLymphomaEpidemiologyChronic lymphocytic leukemiaFollicular lymphomaGenome-wide association studyDiseaseNeurodegenerativemeta-analysiimmune system diseasesHLA AntigensRisk Factorshemic and lymphatic diseases2.1 Biological and endogenous factorsHLA AntigenAetiologyGenetics (clinical)CancerAllele0303 health sciences[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyLymphoma Non-Hodgkinnon-Hodgkin lymphoma030305 genetics & hereditySingle NucleotideHematologyMiddle Aged3. Good healthnon-Hodgkin lymphoma.Public Health and Health ServicesFemaleHumanmedicine.medical_specialtyautoimmune disease; genome-wide association study; meta-analysis; non-Hodgkin lymphoma; Alleles; Autoimmune Diseases; Female; HLA Antigens; Humans; Lymphoma Non-Hodgkin; Male; Middle Aged; Multifactorial Inheritance; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to DiseaseNon-Hodgkinautoimmune diseasePolymorphism Single NucleotideArticleAutoimmune Diseases03 medical and health sciencesRare DiseasesInternal medicineGenetic variationmedicineGeneticsHumansGenetic Predisposition to DiseasePolymorphismAlleles030304 developmental biologyAutoimmune diseasegenome-wide association studybusiness.industryMultiple sclerosisRisk FactorArthritisInflammatory and immune systemHuman Genomemedicine.diseaseLymphomaBrain Disordersmeta-analysisbusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Computer-Assisted Classification Patterns in Autoimmune Diagnostics: The AIDA Project.

2016

International audience; Antinuclear antibodies (ANAs) are significant biomarkers in the diagnosis of autoimmune diseases in humans, done by mean of Indirect ImmunoFluorescence (IIF) method, and performed by analyzing patterns and fluorescence intensity. This paper introduces the AIDA Project (autoimmunity: diagnosis assisted by computer) developed in the framework of an Italy-Tunisia cross-border cooperation and its preliminary results. A database of interpreted IIF images is being collected through the exchange of images and double reporting and a Gold Standard database, containing around 1000 double reported images, has been settled. The Gold Standard database is used for optimization of …

Pathologymedicine.medical_specialtyTunisiaArticle SubjectAnti-nuclear antibody[SDV]Life Sciences [q-bio]lcsh:MedicineCAD02 engineering and technologyGeneral Biochemistry Genetics and Molecular Biology030218 nuclear medicine & medical imagingAutoimmune Diseases03 medical and health sciences0302 clinical medicine0202 electrical engineering electronic engineering information engineeringImage Processing Computer-AssistedMedicineHumansFluorescent Antibody Technique IndirectIndirect immunofluorescenceGeneral Immunology and Microbiologybusiness.industrylcsh:RIIfPattern recognitionGeneral MedicineGold standard (test)Computer aided detectionSettore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)3. Good healthFluorescence intensityItalyComputer-aided diagnosisAntibodies Antinuclear020201 artificial intelligence & image processingArtificial intelligencebusinessComputer Aided Diagnosis Immunofluorescence Pattern Classification IIF images Autoimmune diseases SVM ANN HEp-2Research ArticleBioMed research international
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Comparative Study of Human and Automated Screening for Antinuclear Antibodies by Immunofluorescence on HEp-2 Cells

2015

Background : Several automated systems had been developed in order to reduce inter-observer variability in indirect immunofluorescence (IIF) interpretation. We aimed to evaluate the performance of a processing system in antinuclear antibodies (ANA) screening on HEp-2 cells. Patients and Methods : This study included 64 ANA-positive sera and 107 ANA-negative sera that underwent IIF on two commercial kits of HEp-2 cells (BioSystems® and Euroimmun®). IIF results were compared with a novel automated interpretation system, the “ Cyclopus CADImmuno®” (CAD). Results : All ANA-positive sera images were recognized as positive by CAD (sensitivity = 100%), while 17 (15.9%) of the ANA-negative sera ima…

Statistics and ProbabilityPathologymedicine.medical_specialtyIndirect immunofluorescenceAnti-nuclear antibodymedicine.diagnostic_testbusiness.industryConcordanceHealth InformaticsIIfImmunofluorescenceHealth Professions (miscellaneous)Settore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)Continuous integrationPattern identificationAutoantibodies HEp-2 Immunofluorescence autoimmune diseases automated screening standardization.Health Information ManagementMedicineFine speckledbusinessInternational Journal of Statistics in Medical Research
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