Search results for "PATHOGENESIS"

showing 10 items of 761 documents

A CTLA4high genotype is associated with myasthenia gravis in thymoma patients

2005

Myasthenia gravis (MG) in thymoma patients depends critically on intratumorous generation and export of mature autoreactive CD4+ T cells. Why non-MG thymomas fail to produce CD4+ T cells is unknown. We studied three single-nucleotide polymorphisms of the cytotoxic T-lymphocyte–associated antigen 4(CTLA4) gene in thymoma patients, nonthymoma early-onset MG patients, and control subjects. Surprisingly, the CTLA4high genotype +49A/A, which is protective against several autoimmune diseases, exerted a prominent predisposing effect to paraneoplastic MG in thymoma patients. The unusual disease association with a CTLA4high genotype implies a unique pathogenesis of paraneoplastic MG, with high CTLA4…

AdultMaleThymomaAdolescentGenotypeThymomaDisease Associationchemical and pharmacologic phenomenaPolymorphism Single NucleotidePathogenesis03 medical and health sciences0302 clinical medicineGene FrequencyAntigenAntigens CDhemic and lymphatic diseasesMyasthenia GravisGenotypeHumansMedicineCytotoxic T cellCTLA-4 AntigenChildGeneAgedDemography030304 developmental biology0303 health sciencesbusiness.industryThymus NeoplasmsMiddle Agedmedicine.diseaseAntigens DifferentiationMyasthenia gravis3. Good healthNeurologyImmunologyFemaleNeurology (clinical)business030215 immunologyAnnals of Neurology
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Immunohistochemical analysis of vascular endothelial growth factor (VEGF) and p53 expression in pterygium from Tunisian patients.

2009

A pterygium is characterized by abnormal fibrovascular corneoconjunctival tissue. A number of investigations have attempted to elucidate this incompletely understood pathology. Since vascular endothelial growth factor (VEGF) and p53 are known to participate in tumor vascularization, our purpose was to study VEGF and p53 expression in active primary and recurrent pterygium from Tunisian patients. To this end, 15 cases of active primary pterygium and five cases of recurrent pterygium from Tunisia were studied by immunohistochemistry. Antibodies raised against VEGF and p53 were used to analyze the distribution and expression of these markers in pterygium and normal human conjunctiva were used …

AdultMaleVascular Endothelial Growth Factor APathologymedicine.medical_specialtyConjunctivaTunisiaAngiogenesisPterygiumPathogenesisNeovascularizationImmunoenzyme Techniqueschemistry.chemical_compoundYoung AdultRecurrenceMedicineHumansCorneal NeovascularizationAgedbusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseGenes p53eye diseasesPathophysiologyPterygiumVascular endothelial growth factormedicine.anatomical_structurechemistryImmunohistochemistryFemalesense organsmedicine.symptomTumor Suppressor Protein p53businessConjunctivaPathologie-biologie
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Effects of a nutraceutical formulation based on the combination of antioxidants and ω-3 essential fatty acids in the expression of inflamma…

2013

Maria D Pinazo-Durán,1,* Carmen Galbis-Estrada,1,* Sheila Pons-Vázquez,1 Jorge Cantú-Dibildox,2 Carla Marco-Ramírez,1 Javier Benítez-del-Castillo21Ophthalmic Research Unit Santiago Grisolia, Department of Surgery/Ophthalmology, Faculty of Medicine, University of Valencia, Valencia, Spain; 2Department of Ophthalmology, Hospital of Jerez, Jerez de la Frontera, Spain*These authors contributed equally to this workBackground: Women, and those older than 65 years of age, are particularly susceptible to dry eye disorders (DEDs). Inflammation is clearly involved in the pathogenesis of DEDs, and there is mounting evidence on the antioxidant and …

AdultMaleVascular Endothelial Growth Factor Amedicine.medical_specialtyessential polyunsaturated fatty acidsInterleukin-1betaInflammationnutraceuticsGastroenterologyAntioxidantsPathogenesischemistry.chemical_compoundRisk FactorsInternal medicineFatty Acids Omega-3HumansMedicineProspective StudiesInterleukin 6Prospective cohort studyAgedOriginal ResearchAged 80 and overchemistry.chemical_classificationbiologyInterleukin-6business.industryagingtearsInterleukinGeneral MedicineMiddle AgedcytokinesInterleukin-10Vascular endothelial growth factorchemistryClinical Interventions in AgingDietary SupplementsImmunologybiology.proteinTearsDry Eye SyndromesFemalewomenInflammation MediatorsGeriatrics and Gerontologymedicine.symptombusinessPolyunsaturated fatty acidClinical Interventions in Aging
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Elevated protein carbonyl and HIF-1α levels in eyes with proliferative diabetic retinopathy.

2013

Purpose: To evaluate the role of protein carbonyls and hypoxia inducible factor-1a (HIF-1a) in diabetic eyes with proliferative diabetic retinopathy (PDR). Methods: Prospective consecutive controlled observational study was performed. Vitreous samples were collected at the start of the 3-ppp vitrectomy. Protein carbonylation analysis was performed by Western blotting with antibody against 2,4-Dinitrophenol (anti-DNP), following derivatization of protein carbonyls with 2,4 Dinitrophenylhydrazine (DNHP). Protein carbonylation was quantified by scanning densitometry analysis and relativized to the total amount of protein into the ponceau staining of membranes. Vitreous HIF-1 a was determined w…

AdultMaleVascular Endothelial Growth Factor Amedicine.medical_specialtygenetic structuresmedicine.medical_treatmentProtein CarbonylationBlotting WesternVitrectomyEnzyme-Linked Immunosorbent Assaymedicine.disease_causePathogenesisProtein Carbonylationchemistry.chemical_compoundOphthalmologyVitrectomymedicineHumansProspective StudiesMacular holeAgedGlycated HemoglobinDiabetic Retinopathybusiness.industryRetinal detachmentGeneral MedicineDiabetic retinopathyMiddle Agedmedicine.diseaseHypoxia-Inducible Factor 1 alpha Subuniteye diseasesSurgeryVascular endothelial growth factorVitreous BodyOphthalmologyOxidative StressDiabetes Mellitus Type 1chemistryDiabetes Mellitus Type 2Femalesense organsbusinessOxidative stressActa ophthalmologica
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MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissec…

2014

Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic heterogeneity with some forms allelic to Marfan and Loeys-Dietz syndrome, and an important number of cases still remain unexplained at the molecular level. Through whole-exome sequencing of affected members in a large TAAD-affected family, we identified the c.472CT (p.Arg158(∗)) nonsense mutation in MFAP5 encoding the extracellular matrix component MAGP-2. This protein interacts with elastin fibers and the microfibrillar network. Mutation screening of 403 additional probands identified an additional missense mutation of MFAP5 (c.62GT …

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesAdolescentExtracellular matrix componentNonsense mutationHaploinsufficiencyThoracic aortic aneurysmPathogenesisContractile ProteinsReportGeneticsmedicineHumansMissense mutationGenetics(clinical)ExomeChildGenetics (clinical)AgedGlycoproteinsAged 80 and overGeneticsAortic Aneurysm ThoracicbiologyGenetic heterogeneitySequence Analysis DNAFibroblastsMiddle Agedmedicine.diseasePedigree3. Good healthAortic DissectionAmino Acid SubstitutionCodon Nonsensebiology.proteinIntercellular Signaling Peptides and ProteinsFemaleHaploinsufficiencyElastinThe American Journal of Human Genetics
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Thyroid Stimulating Antibodies Are Highly Prevalent in Hashimoto's Thyroiditis and Associated Orbitopathy

2016

Thyroid-associated orbitopathy (TAO) rarely occurs in patients with Hashimoto's thyroiditis (HT).There is evidence that TSH receptor stimulating antibodies (TSAb) play a role in the pathogenesis of TAO. In this report, the prevalence of TSAb in HT patients with and without TAO was studied.This is a longitudinal observational study.The study took place in an academic joint thyroid-eye clinic.A total of 1055 subjects were included.TSAb was measured with a Food and Drug Administration-cleared bioassay that uses Chinese hamster ovary cells expressing a chimeric TSH receptor and a cAMP response element-dependent luciferase. Results of TSAb activity were reported as percentage of specimen-to-refe…

AdultMaleendocrine systemmedicine.medical_specialtyAdolescentendocrine system diseasesEndocrinology Diabetes and MetabolismClinical Biochemistry030209 endocrinology & metabolismContext (language use)CHO CellsHashimoto DiseaseBiochemistryThyroiditisPathogenesisYoung Adult03 medical and health sciencesCricetulus0302 clinical medicineEndocrinologyCricetinaeInternal medicineAnimalsHumansMedicineYoung adultReceptorbiologybusiness.industryBiochemistry (medical)ThyroidOutcome measuresReceptors ThyrotropinMiddle Agedmedicine.diseaseeye diseasesGraves OphthalmopathyEndocrinologymedicine.anatomical_structure030220 oncology & carcinogenesisbiology.proteinFemaleAntibodybusinessImmunoglobulins Thyroid-StimulatingThe Journal of Clinical Endocrinology & Metabolism
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Immunoregulatory T-lymphocyte subset deficiency in newly diagnosed Type 1 (insulin-dependent) diabetes mellitus

1984

Humoral and cell-mediated disorders in Type 1 (insulin-dependent) diabetes suggest that an imbalance of immunoregulatory T-cell subsets exists. In 23 newly diagnosed (onset less than 3 months) and 21 long-standing Type 1 diabetic patients, T lymphocyte subsets were analyzed using monoclonal antibodies (OKT3, OKT4, OKT8, OKM1). The newly diagnosed patients showed a reduction with a significant difference from healthy controls in total T cells (OKT3+: 58.1 +/- 8.5% versus 70.7 +/- 8.0%), helper/inducer cells (OKT4+: 33.8 +/- 7.0% versus 47.1 +/- 8.3%), suppressor/cytotoxic cells (OKT8+: 18.5 +/- 7.3% versus 32 +/- 6.8%) and monocytes (OKM1+: 11.5 +/- 3.8% versus 19.9 +/- 5.2%) (p less than 0.…

AdultMalemedicine.medical_specialtyAdolescentmedicine.drug_classT-LymphocytesEndocrinology Diabetes and Metabolismchemical and pharmacologic phenomenaNewly diagnosedBiologyMonoclonal antibodymedicine.disease_causeT-Lymphocytes RegulatoryMonocytesAutoimmunityPathogenesisIslets of LangerhansLeukocyte CountDiabetes mellitusInternal medicineInternal MedicinemedicineHumansCytotoxic T cellChildType 1 diabetesImmunologic Deficiency SyndromesAntibodies MonoclonalT-Lymphocytes Helper-InducerT lymphocytemedicine.diseaseDiabetes Mellitus Type 1EndocrinologyFemaleT-Lymphocytes CytotoxicDiabetologia
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Binding of monocytes from normolipidemic hyperglycemic patients with type 1 diabetes to endothelial cells is increased in vitro.

2009

Increased endothelial binding and emigration of monocytes play a dominant role in the pathogenesis of atherosclerosis in diabetes mellitus. Previous studies revealed that hyperlipidemia correlates with monocyte binding in vitro. The aim of this study was to characterize the monocyte-endothelial interaction of leucocytes of hyperglycemic patients with type 1 diabetes but lacking hyperlipidemia. We isolated monocytes from healthy controls and normolipidemic type 1 diabetes patients with elevated levels of HbA1c and quantified monocyte binding by an immunoilluminometric cell adhesion assay. Purity of isolated monocytes was at least 98%. Endothelial binding of monocytes from patients with type …

AdultMalemedicine.medical_specialtyArteriosclerosisEndocrinology Diabetes and MetabolismCell CountMonocytesPathogenesischemistry.chemical_compoundEndocrinologyInternal medicineDiabetes mellitusHyperlipidemiaInternal MedicinemedicineCell AdhesionHumansType 1 diabetesbusiness.industryCD11 AntigensImmunomagnetic SeparationMonocyteAntibodies MonoclonalGeneral Medicinemedicine.diseaseFlow CytometryIn vitroEndothelial stem cellEndocrinologymedicine.anatomical_structureDiabetes Mellitus Type 1GlucoseL-GlucosechemistryHyperglycemiaLuminescent MeasurementsMultivariate AnalysisRegression AnalysisFemaleEndothelium VascularbusinessExperimental and clinical endocrinologydiabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
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Esophageal dysfunction and its pathogenesis in progressive systemic sclerosis

1978

In 25 patients with progressive systemic sclerosis esophageal involvement was studied prospectively by analysing subjective symptoms and radiological and manometric criteria. In all patients abnormal motility could be demonstrated by X-ray and/or manometry: radiologically in 18 (72%), manometrically in 22 (88%) cases. Dysphagia was present only in 11 patients (44%). Six patients (24%) had no subjective symptoms in spite of severe objective esophageal abnormalities. Therefore, the absence of esophageal symptoms does not exclude advanced affliction of the esophagus. To determine the pathogenesis of esophageal dysfunction the effects of 3.5 microgram/kg carbachol and of 0.6 microgram/kg pentag…

AdultMalemedicine.medical_specialtyCarbacholManometryGastroenterologySclerodermaPathogenesisEsophagusAtrophyInternal medicineDrug DiscoverymedicineHumansEsophagusGenetics (clinical)AgedPeristalsisScleroderma Systemicbusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseDysphagiaSurgeryPentagastrinmedicine.anatomical_structureMolecular MedicineCarbacholFemalePentagastrinPeristalsismedicine.symptomDeglutition Disordersbusinessmedicine.drugKlinische Wochenschrift
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Serum levels of type III procollagen peptide in diabetes mellitus.

1989

Serum levels of type III procollagen peptide (P-III-P) were investigated in 19 patients with type 1 (insulin-dependent) and in 48 (25 orally treated, 23 insulinized) patients with type 2 (non insulin-dependent) diabetes mellitus. Among patients with type 2 diabetes, 16 orally treated and 14 insulin-treated subjects had macrovascular complications. P-III-P levels were not correlated with the duration of diabetes and with glucose control, nor were there any significant sex and age differences in the levels. P-III-P values were significantly higher in the sera of insulin-treated non insulin-dependent diabetic patients with macroangiopathy. These high values (18.5 +/- 10.8 ng/ml) were in contra…

AdultMalemedicine.medical_specialtyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentClinical BiochemistryType 2 diabetesBiochemistryPathogenesisEndocrinologyInternal medicineDiabetes mellitusmedicineDiabetes MellitusHumansSensitizationPancreatic hormoneAgedbusiness.industryInsulinBiochemistry (medical)RadioimmunoassayGeneral MedicineMiddle Agedmedicine.diseaseProcollagen peptidasemedicine.anatomical_structureEndocrinologyDiabetes Mellitus Type 1Diabetes Mellitus Type 2FemalebusinessProcollagenHormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
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