Search results for "inflammatory diseases"

showing 10 items of 44 documents

Immune-inflammatory and metabolic effects of high dose furosemide plus hypertonic saline solution (HSS) treatment in cirrhotic subjects with refracto…

2016

Introduction Patients with chronic liver diseases are usually thin as a result of hypermetabolism and malnutrition expressed by reduced levels of leptin and impairment of other adyponectins such as visfatin. Aims We evaluated the metabolic and inflammatory effects of intravenous high-dose furosemide plus hypertonic saline solutions (HSS) compared with repeated paracentesis and a standard oral diuretic schedule, in patients with cirrhosis and refractory ascites. Methods 59 consecutive cirrhotic patients with refractory ascites unresponsive to outpatient treatment. Enrolled subjects were randomized to treatment with intravenous infusion of furosemide (125-250mg⁄bid) plus small volumes of HSS …

Liver CirrhosisMaleLeptinCirrhosisPhysiologyPeptide Hormonesmedicine.medical_treatmentdiureticlcsh:MedicineVisfatinPathology and Laboratory MedicineFurosemide; Hypertonic Saline Solution; TNF-alpha; IL-1beta; IL-6; ANP; BNP; Visfatin; Leptin; cirrhosis; refractory ascites; paracentesis; diureticBiochemistryGastroenterology0302 clinical medicineRecurrenceFurosemideImmune PhysiologyMedicine and Health SciencesParacentesisDiureticslcsh:ScienceImmune ResponseSalineHypertonicInnate Immune SystemMultidisciplinarymedicine.diagnostic_testLiver DiseasesPhysicsLeptinrefractory asciteAscitesClassical MechanicsFurosemideHematologyMiddle AgedBody FluidsBloodTreatment OutcomeCirrhosis030220 oncology & carcinogenesisPhysical SciencesHypermetabolismCytokinesAdministration IntravenousFemale030211 gastroenterology & hepatologyAnatomyInflammation MediatorsANPResearch ArticleTNF-alphamedicine.drugparacentesimedicine.medical_specialtyInflammatory DiseasesImmunologyGastroenterology and HepatologyBlood Plasma03 medical and health sciencesSigns and SymptomsDiagnostic MedicineOsmotic PressureInternal medicinePressuremedicineTonicityHumansAgedInflammationSaline Solution HypertonicIL-6business.industrylcsh:RBiology and Life SciencesMolecular DevelopmentIL-1betamedicine.diseaseHormonesHypertonic salineEndocrinologyImmune Systemlcsh:QHypertonic Saline SolutionDiureticbusinessBiomarkersDevelopmental BiologyBNPcirrhosi
researchProduct

The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

2022

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …

Male*Genetic analysis*Autoinflammatory diseasesPyrinFamilial Mediterranean fever*Classification criteriaCohort StudiesAnesthesiology and Pain MedicineRheumatologySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAMutation*Familial mediterranean feverHumansFemale*RegistryRegistriesAutoinflammatory diseases Classification criteria Familial mediterranean fever Genetic analysis Recurrent fevers Registry Cohort Studies Colchicine Female Humans Male Mutation Pyrin Registries Familial Mediterranean FeverColchicine*Recurrent fevers
researchProduct

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

2018

BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. The primary outcome was complete response (resolution…

Male0301 basic medicineInterleukin-1betaFamilial Mediterranean fever0302 clinical medicineMonoclonalChildMedicine(all)Mevalonate kinase deficiencySubcutaneousMedicine (all)Interleukin-1betaAntibodies MonoclonalGeneral MedicineFamilial Mediterranean FeverRecurrent feverChild PreschoolFemaleTumor necrosis factor alphaDrugInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.drugAdultAdolescentFeverInjections SubcutaneousHereditary Autoinflammatory DiseasesAntibodies Monoclonal HumanizedAdolescent; Adult; Antibodies Monoclonal/administration & dosage; Antibodies Monoclonal/adverse effects; Antibodies Monoclonal/therapeutic use; Child; Child Preschool; Dose-Response Relationship Drug; Double-Blind Method; Familial Mediterranean Fever/drug therapy; Female; Fever/drug therapy; Hereditary Autoinflammatory Diseases/drug therapy; Humans; Injections Subcutaneous; Interleukin-1beta/antagonists & inhibitors; Male; Mevalonate Kinase Deficiency/drug therapy; Young AdultAntibodiesInjectionsDose-Response RelationshipYoung Adult03 medical and health sciencesAll institutes and research themes of the Radboud University Medical CenterDouble-Blind MethodGeneral & Internal MedicinemedicineHumansPreschoolAdolescent; Adult; Antibodies Monoclonal; Child; Child Preschool; Dose-Response Relationship Drug; Double-Blind Method; Familial Mediterranean Fever; Female; Fever; Hereditary Autoinflammatory Diseases; Humans; Injections Subcutaneous; Interleukin-1beta; Male; Mevalonate Kinase Deficiency; Young Adult; Medicine (all)030203 arthritis & rheumatologyDose-Response Relationship Drugbusiness.industryHereditary Autoinflammatory DiseasesHyperimmunoglobulinemia Dmedicine.diseaseCanakinumab030104 developmental biologyImmunologyMevalonate Kinase Deficiencybusiness
researchProduct

Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated perio…

2015

Abstract TNFR-associated periodic syndrome is an autoinflammatory disorder caused by autosomal-dominant mutations in TNFRSF1A, the gene encoding for TNFR superfamily 1A. The lack of knowledge in the field of TNFR-associated periodic syndrome biology is clear, particularly in the context of control of immune self-tolerance. We investigated how TNF-α/TNFR superfamily 1A signaling can affect T cell biology, focusing on conventional CD4+CD25− and regulatory CD4+CD25+ T cell functions in patients with TNFR-associated periodic syndrome carrying either high or low penetrance TNFRSF1A mutations. Specifically, we observed that in high penetrance TNFR-associated periodic syndrome, at the molecular le…

Male0301 basic medicinePenetranceAutoimmunitymedicine.disease_causeT-Lymphocytes RegulatoryImmune toleranceSettore MED/38 - Pediatria Generale E SpecialisticaTRAPS; Tconvs; Tregs; autoimmunity; immune toleranceImmunology and AllergyIL-2 receptorChildGeneticsMutationTconvTOR Serine-Threonine Kinaseshemic and immune systemsMiddle AgedAcquired immune systemPenetranceTregSTAT Transcription Factorsmedicine.anatomical_structureReceptors Tumor Necrosis Factor Type ICytokinesFemalebiological phenomena cell phenomena and immunitySignal TransductionAdultAdolescentFeverT cellAutoimmunity; Immune tolerance; Tconvs; Tregs; TRAPS; Cell Biology; ImmunologyImmunologyReceptors Antigen T-CellContext (language use)Tregs[object Object]BiologyImmunophenotypingYoung Adult03 medical and health sciencesImmune systemmedicineHumansAgedCell ProliferationDemographyTconvsImmune toleranceHereditary Autoinflammatory DiseasesTRAPSCell Biologybiological factors030104 developmental biologyMutationCancer research
researchProduct

Drug survival of anakinra and canakinumab in monogenic autoinflammatory diseases: observational study from the International AIDA Registry

2021

Abstract Objectives To investigate survival of IL-1 inhibitors in monogenic autoinflammatory disorders (mAID) through drug retention rate (DRR) and identify potential predictive factors of drug survival from a real-life perspective. Patients and methods Multicentre retrospective study analysing patients affected by the most common mAID treated with anakinra or canakinumab. Survival curves were analysed with the Kaplan-Meier method. Statistical analysis included a Cox-proportional hazard model to detect factors responsible for drug discontinuation. Results Seventy-eight patients for a total of 102 treatment regimens were enrolled. The mean treatment duration was 29.59 months. The estimated D…

Male0301 basic medicineTime FactorsSettore MED/16 - REUMATOLOGIAInterleukin-1beta0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaMonoclonalPharmacology (medical)RegistriesHumanizedmedia_commonIL-1 anakinra canakinumab innovative biotechnologies monogenic autoinflammatory disorders personalized medicinepersonalized medicineMiddle AgedPenetranceTreatment OutcomeAnakinraAntirheumatic AgentsAutoinflammationIL-1; anakinra; canakinumab; innovative biotechnologies; monogenic autoinflammatory disorders; personalized medicine; Adult; Antibodies Monoclonal Humanized; Antirheumatic Agents; Female; Follow-Up Studies; Hereditary Autoinflammatory Diseases; Humans; Interleukin 1 Receptor Antagonist Protein; Interleukin-1beta; Male; Middle Aged; Retrospective Studies; Time Factors; Treatment Outcome; Young Adult; RegistriesFemalemedicine.drugAdultDrugmedicine.medical_specialtymedia_common.quotation_subjectAntibodies Monoclonal HumanizedcanakinumabAntibodiesYoung Adult03 medical and health sciencesinnovative biotechnologiesRheumatologyInternal medicinemedicineHumansAdverse effectSurvival analysismonogenic autoinflammatory disordersRetrospective Studies030203 arthritis & rheumatologyAnakinraIL-1business.industryHereditary Autoinflammatory DiseasesRetrospective cohort studyInterleukin 1 Receptor Antagonist ProteinCanakinumab030104 developmental biologyObservational studybusinessFollow-Up Studies
researchProduct

Different brain oxidative and neuroinflammation status in rats during prolonged abstinence depending on their ethanol relapse-like drinking behavior:…

2022

Rationale: Accumulating evidence suggests that chronic alcohol consumption is associated with excessive oxidative damage and neuroinflammatory processes and these events have been associated to early alcohol withdrawal. In the present research we wonder if brain oxidative stress and neuroinflammation remains altered during prolonged withdrawal situations and whether these alterations can be correlated with relapse behavior in alcohol consumption. The effects of alcohol reintroduction were also evaluated Methods: We have used a model based on the alcohol deprivation effect (ADE) within a cohort of wild-type male Wistar rats. Two subpopulations were identified according to the alcohol relapse…

MalePharmacologyAlcohol Efectes fisiològicsAlcohol DrinkingEthanolEstrès oxidatiuPrefrontal CortexToxicologyRatsSubstance Withdrawal SyndromeAlcoholismOxidative StressPsychiatry and Mental healthAlcohol relapseAlcohol deprivation effectNeuroinflammationRecurrenceOxidative stressNeuroinflammatory DiseasesAnimalsPharmacology (medical)Rats WistarOxidation-ReductionCraving
researchProduct

Involvement of the P2X7 purinergic receptor in colonic motor dysfunction associated with bowel inflammation in rats

2014

Background and Purpose Recent evidence indicates an involvement of P2X7 purinergic receptor (P2X7R) in the fine tuning of immune functions, as well as in driving enteric neuron apoptosis under intestinal inflammation. However, the participation of this receptor in the regulation of enteric neuromuscular functions remains undetermined. This study was aimed at investigating the role of P2X7Rs in the control of colonic motility in experimental colitis. Experimental Approach Colitis was induced in rats by 2,4-dinitrobenzenesulfonic acid. P2X7R distribution was examined by immunofluorescence analysis. The effects of A804598 (selective P2X7R antagonist) and BzATP (P2X7R agonist) were tested on co…

MalePurinergic P2X Receptor AntagonistsInflammatory Diseaseslcsh:MedicineInflammationGastroenterology and HepatologyBiologyInflammatory bowel diseaseSettore BIO/09 - FisiologiaGuanidinesPurinergic P2X Receptor AgonistsRats Sprague-DawleyImmune systemAdenosine TriphosphatemedicineMedicine and Health SciencesAnimalsP2X7 purinergic receptorColitisReceptorlcsh:SciencePurinergic P2X Receptor AgonistsPharmacologyNeuronsMultidisciplinaryPurinergic receptorlcsh:RBenzenesulfonatesMuscle Smoothmedicine.diseaseColitisRatsDisease Models AnimalImmunologyQuinolineslcsh:QP2X7 Purinergic Receptor Bowel Inflammation colonReceptors Purinergic P2X7medicine.symptomPurinergic P2X Receptor AntagonistsResearch Article
researchProduct

Defining the role of common variation in the genomic and biological architecture of adult human height

2014

Item does not contain fulltext Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes…

Netherlands Twin Register (NTR)BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAElectronic Medical Records and Genomics (eMEMERGEGE) ConsortiumMedizinGenome-wide association studyAdult; Analysis of Variance; Body Height/genetics; European Continental Ancestry Group/genetics; Genetic Variation/genetics; Genetics Population; Genome-Wide Association Study/methods; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism Single Nucleotide/geneticsheritability0302 clinical medicineGenome-wideEuropean Continental Ancestry Group/geneticsSNPSOligonucleotide Array Sequence AnalysissnpsGenetics & Heredityddc:616GeneticsMedical And Health Sciences0303 health scienceseducation.field_of_studyvariantsBody Height/geneticsGENETIC-VARIATIONBiological SciencesPolymorphism Single Nucleotide/geneticsGenetic Variation/geneticsUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Genome-Wide Association Study/methodsbody heightgenetic-variationLife Sciences & BiomedicineSingle Nucleotide/geneticsHumanAdultEuropean Continental Ancestry GroupPopulationPopulationSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleWhite PeopleNOcomplex traits03 medical and health sciencesGenetic variationheritability adult height/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsHumansPolymorphismHuman heightPAGEGE ConsortiumeducationGeneVLAG030304 developmental biologyGlobal NutritionWereldvoedingAnalysis of VarianceGenome-wide; heritability; variantsgenome-wide association studyScience & TechnologyWhitesOligonucleotide Array Sequence AnalysiMUTATIONSCOMPLEX TRAITSta1184Klinisk medicinpopulation geneticsGenetic VariationHeritabilityta3121mutationsGenetic architectureBody HeightGenetics Populationgenetic variationMIGen ConsortiumInflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5]Clinical Medicine030217 neurology & neurosurgeryheightLifeLines Cohort StudyDevelopmental BiologyGenome-Wide Association StudyNature genetics
researchProduct

Ketogenic and Modified Mediterranean Diet as a Tool to Counteract Neuroinflammation in Multiple Sclerosis: Nutritional Suggestions.

2022

Ketogenic Diet is a nutritional pattern often used as dietotherapy in inflammatory diseases, including neurological disorders. Applied on epileptic children since 1920, in recent years it has been taken into account again as a tool to both reduce inflammatory burdens and ameliorate the nutritional status of patients affected by different pathologies. Multiple sclerosis (MS) is considered an immune-mediated neuro-inflammatory disease and diet is a possible factor in its pathogenesis. The aim of this work is to investigate the main potential targets of MS-related impairments, in particular the cognitive deficits, focusing on the alteration of biomarkers such as the Brain Derived-Neurotrophic …

Nutrition and DieteticsMultiple Sclerosisbrain derived neurotrophic factor BDNFMediterraneanDiet MediterraneanSettore BIO/09 - FisiologianeuroinflammationketogenicNeuroinflammatory DiseasesHumansTryptophan/Kynurenine ratiodietChildDiet KetogenicBiomarkersFood ScienceNutrients
researchProduct

Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

2022

ObjectiveThe aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thu…

RegistryKeywords: autoinflammatory diseases; clinical management; precision medicine; rare diseases; research; treatment.Settore MED/16 - REUMATOLOGIAresearchtreatmentprecision medicinerare diseasesrare diseaseGeneral Medicineautoinflammatory diseasestreatment.Settore MED/38 - Pediatria Generale E Specialisticaautoinflammatory diseaseVEXAS syndromeclinical managementHuman medicineKeywords: autoinflammatory diseases
researchProduct