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Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A S…

2020

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05…

0301 basic medicinemyalgiaMaleAbdominal painSettore MED/16 - REUMATOLOGIATNFRSF1AGene mutationGastroenterology0302 clinical medicinePathologyMedicineRB1-214PericarditisChildPrognosisPenetranceInflamacióFamilial Mediterranean FeverAIDA networkEstudi de casosReceptors Tumor Necrosis Factor Type IChild PreschoolAutoinflammationFemalemedicine.symptomResearch ArticleAdultmedicine.medical_specialtyArticle SubjectAdolescentGenotypetumor necrosis factorImmunologyContext (language use)Asymptomatic03 medical and health sciencesYoung AdultInternal medicineAnimalsHumansRetrospective Studies030203 arthritis & rheumatologyInflammationbusiness.industrytumor necrosis factor TRAPS AIDA networkTumor Necrosis Factor-alphaInfantTRAPSCell BiologyMyalgiaBiological productmedicine.disease030104 developmental biologyMutationCase studiesbusinessKidney diseaseMediators of Inflammation
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Characterization of Differentially Expressed Circulating miRNAs in Metabolically Healthy versus Unhealthy Obesity

2021

Obese individuals without metabolic comorbidities are categorized as metabolically healthy obese (MHO). MicroRNAs (miRNAs) may be implicated in MHO. This cross-sectional study explores the link between circulating miRNAs and the main components of metabolic syndrome (MetS) in the context of obesity. We also examine oxidative stress biomarkers in MHO vs. metabolically unhealthy obesity (MUO). We analysed 3536 serum miRNAs in 20 middle-aged obese individuals: 10 MHO and 10 MUO. A total of 159 miRNAs were differentially expressed, of which, 72 miRNAs (45.2%) were higher and 87 miRNAs (54.7%) were lower in the MUO group. In addition, miRNAs related to insulin signalling and lipid metabolism pat…

0301 basic medicineobesitymedicine.medical_specialtyatherogenic dyslipidaemiaMedicine (miscellaneous)Context (language use)Biologymedicine.disease_causeArticlemetabolic syndromeGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineInsulin resistanceDownregulation and upregulationinsulin resistanceInternal medicinemicroRNAmedicineoxidative stresslcsh:QH301-705.5Lipid metabolismmedicine.diseaseObesitymicroRNAs030104 developmental biologyEndocrinologylcsh:Biology (General)030220 oncology & carcinogenesisMetabolic syndromeOxidative stressBiomedicines
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Ocular Clocks: Adapting Mechanisms for Eye Functions and Health

2018

Vision is a highly rhythmic function adapted to the extensive changes in light intensity occurring over the 24-hour day. This adaptation relies on rhythms in cellular and molecular processes, which are orchestrated by a network of circadian clocks located within the retina and in the eye, synchronized to the day/night cycle and which, together, fine-tune detection and processing of light information over the 24-hour period and ensure retinal homeostasis. Systematic or high throughput studies revealed a series of genes rhythmically expressed in the retina, pointing at specific functions or pathways under circadian control. Conversely, knockout studies demonstrated that the circadian clock re…

0301 basic medicineretinavisiongenetic structuresPeriod (gene)[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyCircadian clockCLOCK ProteinsGene ExpressionContext (language use)melatoninReviewBiologyrhythm03 medical and health scienceschemistry.chemical_compoundCircadian ClocksmedicineAnimalsHumansCircadian rhythmOcular Physiological PhenomenaComputingMilieux_MISCELLANEOUSRetinaAdaptation OcularRetinalphotoreceptorCircadian RhythmCLOCKLight intensity030104 developmental biologymedicine.anatomical_structurecircadianchemistrysense organsdopamineNeuroscienceInvestigative Ophthalmology & Visual Science
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The growing role of precision medicine for the treatment of autoimmune diseases; results of a systematic review of literature and Experts’ Consensus

2021

International audience; Autoimmune diseases (AIDs) share similar serological, clinical, and radiological findings, but, behind these common features, there are different pathogenic mechanisms, immune cells dysfunctions, and targeted organs. In this context, multiple lines of evidence suggest the application of precision medicine principles to AIDs to reduce the treatment failure. Precision medicine refers to the tailoring of therapeutic strategies to the individual characteristics of each patient, thus it could be a new approach for management of AIDS which considers individual variability in genes, environmental exposure, and lifestyle. Precision medicine would also assist physicians in ch…

0301 basic medicinerheumatoid arthritismedicine.medical_specialtyantiphospholipid syndrome; precision medicine; primary sjogren's syndrome; rheumatoid arthritis; spondyloarthritides; systemic lupus erythematosus; systemic sclerosis; consensus; humans; precision medicine; autoimmune diseases; lupus erythematosus systemic; sjogren's syndromeConsensusspondyloarthritidesystemic sclerosisImmunologysystemic lupus erythematosuSjogren's Syndrome.Context (language use)Consensuprimary Sjogren's syndromeAutoimmune DiseaseTreatment failureAutoimmune DiseasesNOEfficacy03 medical and health sciences0302 clinical medicineprimary Sjogren’s syndromeAcquired immunodeficiency syndrome (AIDS)systemic lupus erythematosusmedicineImmunology and AllergyHumansLupus Erythematosus SystemicIn patientIntensive care medicineAdverse effect030203 arthritis & rheumatologybusiness.industryPrecision medicinePrecision medicine; antiphospholipid syndrome; primary Sjogren’s syndrome; rheumatoid arthritis; spondyloarthritides; systemic lupus erythematosus; systemic sclerosisEnvironmental exposurerheumatoid arthritimedicine.diseasePrecision medicineantiphospholipid syndrome; Precision medicine; primary Sjogren's syndrome; rheumatoid arthritis; spondyloarthritides; systemic lupus erythematosus; systemic sclerosisspondyloarthritides3. Good health030104 developmental biologySjogren's Syndrome[SDV.IMM]Life Sciences [q-bio]/Immunologybusinesssystemic sclerosiantiphospholipid syndromeHuman
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Repeated, Intermittent Social Defeat across the Entire Juvenile Period Resulted in Behavioral, Physiological, Hormonal, Immunological, and Neurochemi…

2016

The developing brain is vulnerable to social defeat during the juvenile period. As complements of human studies, animal models of social defeat provide a straightforward approach to investigating the functional and neurobiological consequences of social defeats. Taking advantage of agonist behavior and social defeat in male golden hamster, a set of 6 experiments was conducted to investigate the consequences at multiple levels in young adulthood resulting from repeated, intermittent social defeats or “social threats” across the entire juvenile period. Male hamsters at postnatal day 28 (P28) were randomly assigned to either the social defeat, “social threat”, or arena control group, and they …

0301 basic medicinesocial threatCognitive NeuroscienceHippocampusContext (language use)cortisolpro-inflammatory cytokinesrepeated intermittent social defeatDevelopmental psychologySocial defeat03 medical and health sciencesBehavioral Neuroscience0302 clinical medicineNeurochemicalmonoamine neurotransmittersJuvenileYoung adultOriginal Researchmale golden hamstersSocial relationadolescent bullying030104 developmental biologyjuvenileNeuropsychology and Physiological PsychologyPsychology030217 neurology & neurosurgeryGolden hamsterNeuroscienceFrontiers in Behavioral Neuroscience
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SAT0025 THE EFFECT OF DIMETHYL FUMARATE ON PLASMABLAST DIFFERENTIATION TRANSCRIPTIONAL PROGRAMMES IN SYSTEMIC LUPUS ERYTHEMATOSUS

2019

Background: Dimethyl fumarate (DMF), is an immunomodulatory drug approved for the treatment of Multiple Sclerosis (MS) and Psoriasis. The exact mechanism of action of DMF is not entirely known. Anti-inflammatory and immunomodulatory effects have been observed, including the upregulation of NRF-2, the inhibition of TIGAR and the block of the E2 ubiquitin-conjugating enzyme UBEL3. Further evidence from MS patients suggests a modulation on B cell activation. Although beneficial effects of DMF have been observed in animal models of lupus nephritis and limited cases human cutaneous lupus, the effect of DMF on B cell maturation transcriptional programmes in systemic Lupus Erythematosus (SLE) has …

030203 arthritis & rheumatology0301 basic medicineCD40Dimethyl fumaratebiologybusiness.industryNaive B cellLupus nephritisContext (language use)CD38medicine.diseaseImmunoglobulin D03 medical and health scienceschemistry.chemical_compound030104 developmental biology0302 clinical medicinemedicine.anatomical_structurechemistryimmune system diseasesImmunologybiology.proteinMedicinebusinessB cellSATURDAY, 15 JUNE 2019
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New insights into the pathogenesis of giant cell arteritis

2017

Giant cell arteritis (GCA) is an inflammatory chronic disease occurring exclusively in elderly individuals. Until recently, the disease has been considered a unique disease resulting from the interaction in the walls of susceptible arteries, between an unknown infectious agents with local dendritic cells (DCs), activated CD4 T cells and effector macrophages. Recent evidence has shown that this view was too simplistic and has clarified many of the pathogenetic aspects of the disease. Many genetic studies recently published have identified different new genes, including cytokines, adhesion molecules and regulators of innate immunity, as crucial players in the development and progression of GC…

030203 arthritis & rheumatology0301 basic medicineImmunology and Allergy; ImmunologyInnate immune systemGiant Cell ArteritisImmunologyContext (language use)DiseaseBiologymedicine.diseasePathogenesisSettore MED/16 - Reumatologia03 medical and health sciencesGiant cell arteritis030104 developmental biology0302 clinical medicineImmune systemLymphatic systemAntigenImmunologymedicineAnimalsHumansImmunology and Allergyskin and connective tissue diseases
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El diagnóstico de la crisis de la cultura en España: del recorte público a la crisis sistémica

2016

Since its invention in the fifties, cultural policy has been subject of analysis and reflection by Social Sciences. However, Spain, due to Franco period, has a number of distinguishing features as compared to Western European democracies. With the restoration of democracy, Spain acquires the dominant paradigm of a democratic cultural policy based on freedom, pluralism and the right to culture. However, after decades of democratic governments, diagnosis of cultural policy in Spain shows signs of systemic crisis, added to the impact of the global financial crisis at the beginning of the XXI century. In this context, scholars, using the Delphi method along with secondary sources, identify a se…

030214 geriatricsVisual Arts and Performing Artsmedia_common.quotation_subjectSubject (philosophy)Context (language use)Democracy03 medical and health sciences0302 clinical medicinePluralism (political theory)Financial crisisEconomic historyNarrativeSociologySocial science030217 neurology & neurosurgeryPeriod (music)media_commonCultural policyArte, Individuo y Sociedad
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Inner Archipelagos in Sicily. From Culture-Based Development to Creativity-Oriented Evolution

2020

When Covid-19 arrived in Europe from the far East, the media and experts in economics and social sciences noticed that it was the expected discontinuity in the socio-economic development process. Really, the current phase has spread since the 1960s, when the application of econometric worldwide-spread development model was going to produce social inequalities, and consumption of physical, social, and cultural resources. Some places in Italy, far from the erosive and urban context and erosive metropolitan areas, are currently isolated seeds of a new cycle of life, because of the local community identity and the strong link between human, cultural, and natural components are currently working…

030231 tropical medicineGeography Planning and Development0211 other engineering and technologiesIdentity (social science)TJ807-830Context (language use)02 engineering and technologyManagement Monitoring Policy and LawCultural systemSettore ICAR/21 - UrbanisticaTD194-195Renewable energy sources03 medical and health sciences0302 clinical medicineAnthropocenelocal cultural systemsHofstede's cultural dimensions theorySocial inequalityGE1-350Economic geographyEnvironmental effects of industries and plantsRenewable Energy Sustainability and the Environmentneoanthropocene raising021107 urban & regional planninginner landLocal communityCultural heritageEnvironmental sciencesGeographySustainability
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Evaluating the suitability of nicotinic acetylcholine receptor antibodies for standard immunodetection procedures

2007

Nicotinic acetylcholine receptors play important roles in numerous cognitive processes as well as in several debilitating central nervous system (CNS) disorders. In order to fully elucidate the diverse roles of nicotinic acetylcholine receptors in CNS function and dysfunction, a detailed knowledge of their cellular and subcellular localizations is essential. To date, methods to precisely localize nicotinic acetylcholine receptors in the CNS have predominantly relied on the use of anti-receptor subunit antibodies. Although data obtained by immunohistology and immunoblotting are generally in accordance with ligand binding studies, some discrepancies remain, in particular with electrophysiolog…

0303 health sciencesCentral nervous systemContext (language use)BiologyBiochemistry3. Good healthBlot03 medical and health sciencesCellular and Molecular NeuroscienceNicotinic acetylcholine receptor0302 clinical medicinemedicine.anatomical_structureNicotinic agonistmedicineImmunohistochemistryReceptorNeuroscience030217 neurology & neurosurgery030304 developmental biologyAcetylcholine receptorJournal of Neurochemistry
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