Search results for "Systemic Sclerosis"

showing 10 items of 33 documents

Pulmonary functional and radiological correlations of nutritional status and physical activity in systemic sclerosis

2011

Purpose Methods and Materials Results Conclusion References Personal Information

CT-High ResolutionConnective tissue disordersPulmonary Function Radiology Nutritional status Physical Activity Systemic SclerosisSettore MED/10 - Malattie Dell'Apparato RespiratorioRespiratory system
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A machine learning application to predict early lung involvement in scleroderma: A feasibility evaluation

2021

Introduction: Systemic sclerosis (SSc) is a systemic immune-mediated disease, featuring fibrosis of the skin and organs, and has the greatest mortality among rheumatic diseases. The nervous system involvement has recently been demonstrated, although actual lung involvement is considered the leading cause of death in SSc and, therefore, should be diagnosed early. Pulmonary function tests are not sensitive enough to be used for screening purposes, thus they should be flanked by other clinical examinations

Elastic net regularizationSpirometryMedicine (General)High-resolution computed tomographyArtificial intelligenceClinical BiochemistryDiseaseMachine learningcomputer.software_genreArticlePulmonary function testingR5-920Machine learningmedicineCause of deathEsophageal dilatationintegumentary systemmedicine.diagnostic_testbusiness.industryHRCT chestRegressionRandom forestArtificial intelligence; Esophageal dilatation; HRCT chest; Machine learning; Systemic sclerosisSystemic sclerosisArtificial intelligencebusinesscomputer
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Manometrische untersuchungen zur oesophagusbeteiligung bei progressiver sklerodermie

1975

Bei 15 Patienten mit progressiver Sklerodermie wurde die Oesophagus funktion manometrisch und radiologisch untersucht. Nur ein Drittel der Patienten gab Schluckbeschwerden an. Dagegen liesen sich radiologisch bei 8 Patienten (55%) deutliche Motilitatsstorungen nachweisen, mit der Oesophagusmanometrie sogar bei 11 Patienten (73%). Fehlende subjektive Symptome schliesen demnach einen ausgedehnten Befall der Speiserohre nicht aus. Die manometrischen Messungen zeigen, das mit einer Beteiligung der Speiserohre im odematos-indurativen Stadium der Sklerodermie in einem wesentlichen hoheren Prozentsatz gerechnet werden mus, als ublicherweise aufgrund von Rontgenuntersuchungen allein angenommen wurd…

Gynecologymedicine.medical_specialtybusiness.industryMedicineProgressive systemic sclerosisDermatologyGeneral Medicinebusinessmedicine.diseaseArchives for Dermatological Research
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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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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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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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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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Rehabilitative interventions for ischaemic digital ulcers, pain, and hand functioning in systemic sclerosis: a prospective before-after study

2022

Abstract Background Systemic sclerosis (SSc) is a rare connective tissue disease characterised by immune dysfunction, vasculopathy, cellular inflammation, fibrosis of the skin associated with multiple internal organs involvement. Ischaemic digital ulcers (IDU) of the hands commonly occur in patients with SSc adversely affecting functional independence. Purpose Aim of the study is to investigate the effectiveness of a rehabilitation protocol based on the combined use of ultrasound (US) therapy and therapeutic exercise in terms of ulcers healing, pain relief, and hand functioning in patients affected by SSc with IDUs. Moreover, we also investigated the safety of the proposed intervention. Stu…

Scleroderma SystemicRehabilitationPainRehabilitation Systemic sclerosis Ultra-sound therapy Manual therapy Connective tissue diseaseHandFingersSystemic sclerosiProspective StudieRheumatologyControlled Before-After StudiesControlled Before-After StudieManual therapyFingerHumansOrthopedics and Sports MedicineProspective StudiesUltra-sound therapyConnective tissue diseaseUlcerHuman
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IL-13 and IL-33 Serum Levels Are Increased in Systemic Sclerosis Patients With Interstitial Lung Disease

2022

ObjectiveSystemic sclerosis (SSc) mortality is extremely variable in its internal organ involvement. Pulmonary fibrosis occurs in up to 30% of the cases. Animal models provide evidence that IL-33 is able to induce both cutaneous and pulmonary fibrosis via increased IL-13 and in SSc patients the levels of IL-33 correlate with skin fibrosis. Our aim was to test whether both IL-33 and IL-13 are higher in patients with diffuse SSc and interstitial lung disease (SSc-ILD) compared to SSc patients without ILD and healthy controls.MethodsSerum levels of IL-13 and IL-33 were measured in 30 SSc patients with diffuse disease and 30 healthy controls by enzyme-linked immunosorbent assay. The extent of p…

interstitial lung diseaseMedicine (General)R5-920interleukinsintegumentary systemsystemic sclerosisIL-13IL-13; IL-33; interleukins; interstitial lung disease; systemic sclerosisIL-33General Medicinerespiratory systemskin and connective tissue diseases
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Interleukin-32 in systemic sclerosis, a potential new biomarker for pulmonary arterial hypertension

2020

Abstract Background Pulmonary arterial hypertension (PAH) is a severe complication of systemic sclerosis (SSc), associated with a progressive elevation in pulmonary vascular resistance and subsequent right heart failure and death. Due to unspecific symptoms, the diagnosis of PAH is often delayed. On this basis, it is of great value to improve current diagnostic methods and develop new strategies for evaluating patients with suspected PAH. Interleukin-32 (IL-32) is a proinflammatory cytokine expressed in damaged vascular cells, and the present study aimed to assess if this cytokine could be a new biomarker of PAH during SSc. Methods The IL-32 expression was evaluated in the sera and skin sam…

medicine.medical_specialtylcsh:Diseases of the musculoskeletal systemHypertension Pulmonarymedicine.medical_treatment030204 cardiovascular system & hematologyPulmonary arterial hypertensionGastroenterologyProinflammatory cytokineSystemic sclerosi03 medical and health sciences0302 clinical medicineInternal medicinemedicine.arterysystemic sclerosis; pulmonary arterial hypertension; IL-32medicineHumansskin and connective tissue diseases030203 arthritis & rheumatologyScleroderma Systemicintegumentary systembusiness.industryInterleukinsRheumatologyInterleukin 32Cytokinemedicine.anatomical_structureIL-32; Pulmonary arterial hypertension; Systemic sclerosisIL-32Pulmonary arteryVascular resistanceSystemic sclerosisBiomarker (medicine)Immunohistochemistrylcsh:RC925-935businessBiomarkersResearch ArticleArthritis Research & Therapy
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