Search results for "Scleroderma"

showing 10 items of 70 documents

Regulatory T cell deficient scurfy mice exhibit a Th2/M2-like inflammatory response in the skin

2017

Abstract Background Scurfy mice have a functional defect in regulatory T cells (Treg), which leads to lethal multi-organ inflammation. The missing Treg function results in uncontrolled autoimmune cellular and humoral inflammatory responses. We and others have previously shown that during the course of disease scurfy mice develop severe skin inflammation and autoantibodies including anti-nuclear autoantibodies (ANA). Objective Autoimmune skin inflammation and ANA are hallmarks for the diagnosis of autoimmune connective tissue diseases; therefore we analyzed scurfy mice for typical signs of these diseases. Methods Indirect immunofluorescence was used to specify the ANA pattern in scurfy mice.…

Male0301 basic medicinePathologymedicine.medical_specialtyRegulatory T cellCD3Fluorescent Antibody TechniqueConnective tissueDermatitisInflammationDermatologyT-Lymphocytes RegulatoryBiochemistrySclerodermaAutoimmune DiseasesMice03 medical and health sciencesMixed connective tissue diseaseFibrosismedicineAnimalsMolecular BiologySkinCell NucleusScleroderma SystemicTissue Inhibitor of Metalloproteinase-1biologybusiness.industryMacrophagesAutoantibodyForkhead Transcription FactorsMacrophage ActivationFlow Cytometrymedicine.diseaseFibrosisUp-Regulation030104 developmental biologymedicine.anatomical_structureAntibodies AntinuclearImmunologybiology.proteinCytokinesFemaleCollagenmedicine.symptombusinessJournal of Dermatological Science
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The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

2013

Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…

MaleLinkage disequilibrium:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleSLElcsh:MedicineAutoimmunityGenome-wide association studyLinkage DisequilibriumScleroderma:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Gene Frequency:Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group [Medical Subject Headings]Risk FactorsIRF5Genetics of the Immune SystemLupus Erythematosus Systemic:Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma Systemic [Medical Subject Headings]skin and connective tissue diseaseslcsh:ScienceMultidisciplinary:Diseases::Immune System Diseases::Autoimmune Diseases::Lupus Erythematosus Systemic [Medical Subject Headings]Predisposición genética a la enfermedad:Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings]PhenotypeInterferon Regulatory FactorsSYSTEMIC SCLEROSISMedicineEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]FemaleIRF5; SLE; TYPE I INTERFERON; SYSTEMIC SCLEROSISHaplotiposResearch ArticleFactores de riesgoImmunology:Chemicals and Drugs::Amino Acids Peptides and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins Signal Transducing::Interferon Regulatory Factors [Medical Subject Headings]:Check Tags::Male [Medical Subject Headings]:Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings]Single-nucleotide polymorphismHuman leukocyte antigenBiologyPolymorphism Single NucleotideWhite PeopleAutoimmune DiseasesRheumatologyLupus eritematoso sistémicoGeneticsHumansGenetic Predisposition to DiseaseGrupo de ascendencia continental europeaAlleleBiologyAllele frequencyAllelesGenetic Association Studies:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]Scleroderma SystemicHaplotypelcsh:R:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci [Medical Subject Headings]Human Genetics:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]Factores reguladores del interferónHaplotypesDesequilibrio de ligamiento:Check Tags::Female [Medical Subject Headings]Genetic LociTYPE I INTERFERONGenetics of DiseaseImmunologyGenetic PolymorphismClinical Immunologylcsh:Q:Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]Population GeneticsIRF5PLoS ONE
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Vascular damage and lack of angiogenesis in systemic sclerosis skin

2003

The aim of this study was to analyse microvascular damage and compensatory angiogenesis in skin from patients with systemic sclerosis (SSc) compared with systemic lupus erythematosus (SLE), Raynaud's phenomenon (RP) and healthy controls. Immunohistochemistry was used for skin biopsies (9 SSc, 10 SLE, 9 RP and 12 healthy controls) using von Willebrand factor and beta3 integrin subunit specific antibodies, TechMate immunostaining robot and biotin-streptavidin protocol. In the early stages of SSc, vWF was found in the perivascular space and interstitial matrix in papillary but not in the reticular dermis, in particular around small oedematous blood vessels infiltrated by mononuclear cells. The…

MalePathologymedicine.medical_specialtyAngiogenesisNeovascularization PhysiologicConnective tissueRisk AssessmentSeverity of Illness IndexPathogenesis03 medical and health sciences0302 clinical medicineRheumatologyInterstitial matrixVon Willebrand factorReference ValuesFibrosisvon Willebrand FactormedicineHumansLupus Erythematosus SystemicPerivascular spaceskin and connective tissue diseases030304 developmental biology030203 arthritis & rheumatology0303 health sciencesScleroderma Systemicintegumentary systembiologybusiness.industryBiopsy NeedleRaynaud DiseaseGeneral MedicinePrognosismedicine.diseaseImmunohistochemistry3. Good healthDermal papillaemedicine.anatomical_structureCase-Control Studiesbiology.proteinFemaleEndothelium VascularbusinessClinical Rheumatology
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Alterations of the beneficial effect of deep inspiration in scleroderma: relationships between lung function and imaging.

2007

<i>Background:</i> It has been postulated that the beneficial effects of deep inspiration are dependent on the magnitude of airway distension by virtue of airway to parenchyma interdependence. <i>Objective:</i> This study was designed to examine whether the changes that occur in pulmonary fibrosis affect the beneficial effect of deep inspiration. <i>Methods:</i> Thirty-one subjects with scleroderma underwent lung volume and diffusion capacity assessment as well as high-resolution computed tomography. To assess the effect of deep inspiration, each subject underwent methacholine provocations in the absence of deep breaths. When the targeted change in lung f…

MalePulmonary and Respiratory MedicinePathologymedicine.medical_specialtyPulmonary FibrosisVital CapacityDistensionSettore MED/10 - Malattie Dell'Apparato RespiratorioBronchial Provocation TestsSclerodermaBronchoconstrictor AgentsScleroderma LocalizedForced Expiratory VolumeParenchymamedicineHumansLungMethacholine ChlorideBronchusLungbusiness.industryRespiratory diseaseInterstitial lung diseaseMiddle Agedrespiratory systemmedicine.diseaserespiratory tract diseasesmedicine.anatomical_structureInhalationRespiratory Mechanicsconnettive diseases lung inflation imagingFemaleTomography X-Ray ComputedAirwaybusiness
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Vitamin D increases the production of IL-10 by regulatory T cells in patients with systemic sclerosis

2019

OBJECTIVES: Vitamin D status influences the risk to develop autoimmune diseases affecting the percentage and/or functions of regulatory T cells (Tregs). Since low levels of 25 (OH) D have been decreased in patients with systemic sclerosis (SSc), we aimed to study the effect of Vitamin D3 (cholecalciferol) supplementation on Tregs frequencies and functions. METHODS: Peripheral blood and sera samples were obtained from 45 SSc patients and controls (HC). A number of eighteen SSc patients had consumed Cholecalciferol (orally) at the dose of 25.000 UI/month for 6 months at the time of enrollment. 25(OH)D serum levels were measured and VDR polymorphisms, were genotyped by polymerase chain reactio…

MaleScleroderma SystemicMiddle AgedT-Lymphocytes RegulatoryInterleukin-10Case-Control StudiesDietary SupplementsLeukocytes MononuclearHumansFemaleVitamin Dsystemic sclerosis vitamin D TregsCase-Control StudieDietary SupplementHuman
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Hope for Disease-Modifying Treatment of Systemic Sclerosis/Scleroderma

2014

Systemic sclerosis (SSc), or scleroderma, similar to many fibrotic disorders, lacks effective therapies. Current trials focus on anti-inflammatory drugs or targeted approaches aimed at one of the many receptor mechanisms initiating fibrosis. In light of evidence that a myocardin-related transcription factor (MRTF)–and serum response factor (SRF)–regulated gene transcriptional program induced by Rho GTPases is essential for myofibroblast activation, we explored the hypothesis that inhibitors of this pathway may represent novel antifibrotics. MRTF/SRF-regulated genes show spontaneously increased expression in primary dermal fibroblasts from patients with diffuse cutaneous SSc. A novel small-m…

MaleSerum Response Factormedicine.medical_specialtyOncogene Proteins FusionTranscription GeneticNipecotic AcidsDiseaseSclerodermaDrug Discovery and Translational MedicineInternal medicinemedicineAnimalsHumansMyofibroblastsskin and connective tissue diseasesPharmacologyScleroderma Systemicintegumentary systembusiness.industrymedicine.diseaseConnective tissue diseaseDermatologyRheumatologyDNA-Binding Proteinsstomatognathic diseasesMolecular MedicineFemalebusinessJournal of Pharmacology and Experimental Therapeutics
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Polymorphism of immunoglobulin enhancer element HS1,2A: allele *2 associates with systemic sclerosis. Comparison with HLA‐DR and DQ allele frequency

2007

OBJECTIVE: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3' enhancer complex regulatory region (IgH3'EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. METHODS: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. RESULTS: …

MaleSettore MED/16 - REUMATOLOGIAsystemic sclerosisclinical evaluationgenotype phenotype correlationHLA DR antigenSclerodermaGene FrequencyGenotypeImmunology and Allergycentromere antibody; HLA DR antigen; immunoglobulin enhancer binding protein; scl 70 antibody; adult; aged; article; clinical evaluation; controlled study; DNA polymorphism; female; gene frequency; genotype phenotype correlation; human; major clinical study; male; priority journal; risk factor; systemic sclerosis; Adult; Aged; Autoantibodies; Enhancer Elements (Genetics); Esophagus; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; HLA-DQ Antigens; HLA-DR Antigens; Humans; Immunoglobulin Heavy Chains; Male; Middle Aged; Phenotype; Polymorphism Genetic; Scleroderma Systemic; Statistics Nonparametric; Stomacheducation.field_of_studycentromere antibodyStatisticsStomacharticleMiddle AgedExtended Reportimmunoglobulin enhancer binding proteinEnhancer Elements GeneticPhenotypepriority journalrisk factorFemaleImmunoglobulin Heavy ChainsAdultGenotypeImmunologyPopulationBiologyGeneral Biochemistry Genetics and Molecular BiologyStatistics NonparametricEsophagusGeneticRheumatologyHLA-DQ AntigensHLA-DRHumanscontrolled studyEnhancer Elements (Genetics)NonparametricGenetic Predisposition to DiseasehumanPolymorphismAlleleeducationEnhancerAllele frequencyAgedAutoantibodiesscl 70 antibodyPolymorphism GeneticScleroderma SystemicSystemicHLA-DR Antigensmajor clinical studyGenotype frequencySettore BIO/18 - GeneticaDNA polymorphismImmunologyImmunoglobulin heavy chain
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Adenosine A2A receptors in diffuse dermal fibrosis: pathogenic role in human dermal fibroblasts and in a murine model of scleroderma.

2006

Objective Adenosine regulates inflammation and tissue repair, and adenosine A2A receptors promote wound healing by stimulating collagen matrix production. We therefore examined whether adenosine A2A receptors contribute to the pathogenesis of dermal fibrosis. Methods Collagen production by primary human dermal fibroblasts was analyzed by real-time polymerase chain reaction, 14C-proline incorporation, and Sircol assay. Intracellular signaling for dermal collagen production was investigated using inhibitors of MEK-1 and by demonstration of ERK phosphorylation. In vivo effects were studied in a bleomycin-induced dermal fibrosis model using adenosine A2A receptor–deficient wild-type littermate …

Malemedicine.medical_specialtyReceptor Adenosine A2AImmunologyMAP Kinase Kinase 1Adenosine A2A receptorGene ExpressionBiologyMiceRheumatologyFibrosisInternal medicinemedicineImmunology and AllergyAnimalsHumansPharmacology (medical)RNA MessengerEnzyme InhibitorsReceptorCells CulturedMice Knockoutintegumentary systemTriazinesDermisPurinergic signallingFibroblastsTriazolesAdenosine A3 receptormedicine.diseaseAdenosineAdenosine receptorFibrosisMice Inbred C57BLDisease Models AnimalHydroxyprolineEndocrinologyScleroderma DiffuseCancer researchCollagenWound healingmedicine.drugArthritis and rheumatism
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Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

2012

Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…

Oncologymedicine.medical_specialtysystemic sclerosisRHOBImmunologyGenome-wide association studySingle-nucleotide polymorphismBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyArticleWhite PeopleRheumatologyRisk FactorsInternal medicineRhoB GTP-Binding Proteinsystemic sclerosis; genome wide screening; genetic risk factorsmedicinegenetic risk factorsImmunology and AllergySNPHumansGenetic Predisposition to DiseaseAllelerhoB GTP-Binding ProteinRheumatology and AutoimmunityScleroderma Systemicbusiness.industryHaplotypeProteinsgenome wide screeningDNA-Binding ProteinsEuropeHaplotypesCohortEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]businessGenome-Wide Association Study
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Perikollagene Amyloidablagerungen in Haut und inneren Organen bei Sklerodermie

1969

Bei 18 Sklerodermie-Patienten konnte in 2 Fallen polarisationsoptisch in der Haut perikollagenes Amyloid nachgewiesen werden, bei 1 Obduktionsfall dieser Beobachtungsreihe gleicherweise in einigen Innenorganen, jedoch nicht in der Haut.

Pathologymedicine.medical_specialtyAmyloidbusiness.industryGeneral Medicinemedicine.diseaseMolecular medicineSclerodermaHuman geneticsDrug DiscoveryMolecular MedicineMedicinebusinessGenetics (clinical)Klinische Wochenschrift
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