Search results for "Autoimmune"

showing 10 items of 648 documents

TIROIDITE AUTOIMMUNE IN FENILCHETONURIA: DESCRIZIONE DI UNA NUOVA ASSOCIAZIONE

2011

Settore MED/38 - Pediatria Generale E SpecialisticaFENILCHETONURIATIROIDITE AUTOIMMUNE
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Autoimmune thyroiditis and phenilketonuria: a new association

2011

Settore MED/38 - Pediatria Generale E SpecialisticaPHENILKETONURIAAUTOIMMUNE THYROIDITIS
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Patologia Muscolare Autoimmune: dermatomiosite. La nostra casistica.

2017

Settore MED/38 - Pediatria Generale E SpecialisticaPatologia Muscolare Autoimmune dermatomiosite
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TIROIDITE AUTOIMMUNE IN S. DI LOWE: SEGNALAZIONE DI UNA NUOVA ASSOCIAZIONE

2009

Settore MED/38 - Pediatria Generale E SpecialisticaSindrome di Lowe Insufficienza renale tiroidite autoimmune
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SELENIUM AND AUTOIMMUNE THYROIDITIS

2023

Selenium (Se) is an essential trace element of pivotal importance to human health. Se is incorporated into selenoproteins (SePs) which have pleiotropic effects, including antioxidant and anti-inflammatory effects, and in the production of active thyroid hormone. These findings may explain the relationship between Se deficiency and pathogenesis of various human diseases including thyroid disorder. In line with these observations, the therapeutic effectiveness of Se supplementation has already been reported in patients with various thyroid diseases. However, there are still controversial data about the optimal dose of Se to be administered, as well as the duration and efficacy of treatment an…

Settore MED/49 - Scienze Tecniche Dietetiche Applicateselenium nutrition selenoproteins autoimmune thyroiditis Hashimoto’s thyroiditis Graves' disease Graves' ophthalmopathy
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The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multipl…

2020

The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms produced by IL22RA2 (IL-22 binding protein-1(IL-22BPi1), IL-22BPi2 and IL-22BPi3). Genotyping was extended to a Europe-wide case-control dataset and yielded high significance in the full dataset (p = 3.17 &times

Signal peptideGene isoformSignal peptidePopulationSingle-nucleotide polymorphismLocus (genetics)610 Medicine & healthBiologymultiple sclerosisMultiple sclerosis03 medical and health sciences0302 clinical medicineSNPIL-22 binding protein isoformsignal peptideddc:610Alleleeducation610 Medicine &amp; healthlcsh:QH301-705.5Peptide sequence030304 developmental biology0303 health scienceseducation.field_of_studyautoimmuneGeneral MedicineMolecular biologylcsh:Biology (General)<i>IL22RA2</i>IL22RA2Mutation[SDV.IMM]Life Sciences [q-bio]/Immunologymutation030217 neurology & neurosurgeryAutoimmune
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Differentiating Multiple Sclerosis From AQP4-Neuromyelitis Optica Spectrum Disorder and MOG-Antibody Disease With Imaging.

2023

Background and ObjectivesRelapsing-remitting multiple sclerosis (RRMS), aquaporin-4 antibody–positive neuromyelitis optica spectrum disorder (AQP4-NMOSD), and myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD) may have overlapping clinical features. There is an unmet need for imaging markers that differentiate between them when serologic testing is unavailable or ambiguous. We assessed whether imaging characteristics typical of MS discriminate RRMS from AQP4-NMOSD and MOGAD, alone and in combination.MethodsAdult, nonacute patients with RRMS, APQ4-NMOSD, and MOGAD and healthy controls were prospectively recruited at the National Hospital for Neurology and Neurosurgery (L…

Sistema nerviós central - MalaltiesMalalties autoimmunitàries:aminoácidos péptidos y proteínas::proteínas::glicoproteínas::glicoproteínas de membranas::butirofilinas::glicoproteína mielínica del oligodendrocito [COMPUESTOS QUÍMICOS Y DROGAS]:Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases CNS::Myelitis Transverse::Neuromyelitis Optica [DISEASES]:enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::enfermedades autoinmunes desmielinizantes del SNC::mielitis transversa::neuromielitis óptica [ENFERMEDADES]:Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases CNS::Multiple Sclerosis [DISEASES]Esclerosi múltiple:Amino Acids Peptides and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Butyrophilins::Myelin-Oligodendrocyte Glycoprotein [CHEMICALS AND DRUGS]:Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Tomography::Magnetic Resonance Imaging [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]:enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::enfermedades autoinmunes desmielinizantes del SNC::esclerosis múltiple [ENFERMEDADES]Imatgeria per ressonància magnèticaNA:diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::tomografía::imagen por resonancia magnética [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Neurology (clinical)Neurology
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Clinical manifestations of the anti-IgLON5 disease

2017

Objective:To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies.Methods:This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques.Results:Patients' median age was 64 years (range 46–83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%). By the time of diagnosis of the disorder, 4 syndromes were identified: (1) a sleep disorder with paras…

Sleep Wake Disorders0301 basic medicinemedicine.medical_specialtyCell Adhesion Molecules NeuronalPopulationExcessive daytime sleepinessAutoimmune DiseasesProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansCognitive declineeducationAgedAutoantibodiesRetrospective StudiesAged 80 and overeducation.field_of_studySleep disorderbusiness.industryBrainSleep apneaChoreaParasomniaMiddle Agedmedicine.disease030104 developmental biologyImmunoglobulin GImmunotherapyNeurology (clinical)medicine.symptomCarrier ProteinsbusinessBiomarkers030217 neurology & neurosurgeryHLA-DRB1 ChainsNeurology
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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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Autoimmunity to the p53 protein is a feature of systemic lupus erythematosus (SLE) related to anti-DNA antibodies.

2001

The induction of anti-DNA autoantibodies in systemic lupus erythematosus (SLE) patients is problematic because mammalian DNA is poorly immunogenic at best. Here we demonstrate a chain of connected antibodies in SLE patient sera that could account for the induction of anti-DNA antibody, and possibly for some of the pathogenic features of SLE. We now report that SLE patients, in addition to anti-DNA, produce antibodies to the carboxy-terminal domain of the tumour suppressor molecule p53; this p53 domain recognizes damaged DNA. Hence, these anti-p53 antibodies could mimic damaged DNA immunologically. Indeed, SLE sera do contain anti-idiotypic antibodies to a prototypic anti-p53 antibody. Moreo…

Systemic diseaseAnti-nuclear antibodyImmunologyBiologymedicine.disease_causeProtein Structure SecondaryAutoimmunityImmunoglobulin Idiotypesimmune system diseasesmedicineImmunology and AllergyHumansLupus Erythematosus Systemicskin and connective tissue diseasesAutoantibodiesAutoimmune diseaseLupus erythematosusMolecular MimicryAutoantibodymedicine.diseaseDNA-Binding ProteinsMolecular mimicryAntibodies AntinuclearImmunologyCancer researchbiology.proteinAntibodyTumor Suppressor Protein p53PeptidesJournal of autoimmunity
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