Search results for " Adult-onset"

showing 6 items of 16 documents

Parenchymal lung disease in adult onset Still’s disease: an emergent marker of disease severity—characterisation and predictive factors from Gruppo I…

2020

Abstract Background Adult-onset Still’s disease (AOSD) is a systemic inflammatory disorder of unknown aetiology usually affecting young adults. Interestingly, recent evidence from the juvenile counterpart of AOSD suggested the emergent high fatality rate of lung disease (LD) in these patients. In this work, we aimed to characterise LD in AOSD, to identify associated clinical features and predictive factors, and to describe long-term outcomes of the disease comparing patients with LD and those without. Methods A retrospective assessment of prospectively followed patients, from January 2001 to December 2019, was provided to describe the rate of LD in AOSD, associated clinical features and pre…

Lung DiseasesmyalgiaAbdominal painmedicine.medical_specialtylcsh:Diseases of the musculoskeletal systemDiseaseSeverity of Illness IndexYoung AdultAdult onset Still's diseaseInternal medicineCase fatality ratemedicineHumansMortalityYoung adultSurvival rateAgedRetrospective StudiesAdult onset Still’s diseasebusiness.industryMortality rateAdult onset Still's disease; Lung disease; MortalityLung diseaseCohortMortality.lcsh:RC925-935medicine.symptombusinessStill's Disease Adult-OnsetBiomarkersResearch ArticleArthritis Research & Therapy
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H-ferritin and CD68+/H-ferritin+ monocytes/macrophages are increased in the skin of adult-onset Still's disease patients and correlate with the multi…

2016

Summary Adult-onset Still's disease (AOSD) patients may show an evanescent salmon-pink erythema appearing during febrile attacks and reducing without fever. Some patients may experience this eruption for many weeks. During AOSD, exceptionally high serum levels of ferritin may be observed; it is an iron storage protein composed of 24 subunits, heavy (H) subunits and light (L) subunits. The ferritin enriched in L subunits (L-ferritin) and the ferritin enriched in H subunits (H-ferritin) may be observed in different tissues. In this work, we aimed to investigate the skin expression of both H-and L-ferritin and the number of macrophages expressing these molecules from AOSD patients with persist…

Male0301 basic medicinePathologymedicine.medical_specialtyAdult-onset Still's diseaseDermal immune systemErythemaMacrophageBiopsyImmunologyAntigens Differentiation MyelomonocyticGene ExpressionDiseaseAdult-onset Still's diseaseMonocytesH-Ferritin03 medical and health sciences0302 clinical medicineAntigens CDadult-onset Still's disease; dermal immune system; ferritin; hyperferritinaemic syndrome; macrophagemedicineHumansImmunology and AllergyMonocytes macrophagesMacrophageRNA MessengerSkin030203 arthritis & rheumatologyFerritinbiologyCD68MacrophagesOriginal ArticlesFerritinSettore MED/16 - Reumatologia030104 developmental biologyApoferritinsImmunologyLeukocytes Mononuclearbiology.proteinCytokinesFemaleInflammation Mediatorsmedicine.symptomHyperferritinaemic syndromeStill's Disease Adult-OnsetBiomarkersClinical and Experimental Immunology
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Adult-onset Still's disease: an Italian multicentre retrospective observational study of manifestations and treatments in 245 patients

2016

Adult-onset Still’s disease (AOSD) is a systemic inflammatory condition of unknown aetiology characterized by typical episodes of spiking fever, evanescent rash, arthralgia, leukocytosis and hyperferritinemia. Given the lack of data in Italian series, we promote a multicentric data collection to characterize the clinical phenotype of Italian patients with AOSD. Data from 245 subjects diagnosed with AOSD were collected by 15 centres between March and May 2013. The diagnosis was made following Yamaguchi’s criteria. Data regarding clinical manifestations, laboratory features, disease course and treatments were reported and compared with those presented in other published series of different et…

Male0301 basic medicinePediatricsAdult-onset Still's diseaseSettore MED/16 - REUMATOLOGIALeukocytosisClinical presentationArthritisComorbidityDiseaseLaboratory finding0302 clinical medicineAdrenal Cortex HormonesLeukocytosisAdult-onset Still’s diseaseBiologic drugsMedicine (all)General MedicineMiddle AgedRashRetrospective studyTreatment OutcomeItalyAdult-onset Still’s disease; Biologic drugs; Clinical presentation; Laboratory findings; Retrospective study; Rheumatology; Medicine (all)Antirheumatic AgentsFemalemedicine.symptomStill's Disease Adult-OnsetAdultLaboratory findingsmedicine.medical_specialtyAdolescentFeverNOYoung Adult03 medical and health sciencesRheumatologyInternal medicinemedicineHumansAgedRetrospective Studies030203 arthritis & rheumatologybusiness.industryAdult-onset Still’s disease; Biologic drugs; Clinical presentation; Laboratory findings; Retrospective study; RheumatologyRetrospective cohort studymedicine.diseaseNeutrophiliaRheumatologySurgery030104 developmental biologybusinessBiologic drug
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A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

2021

Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the β-galactocerebrosidase (GALC) gene. KD is distinguished into subtypes based on the age of onset; these are early infantile, late infantile, juvenile, and adult-onset. We report a case of a 47-year-old Caucasian man with a 2-year history of muscle atrophy and weakness in both hands associated with pyramidal signs and mild spasticity in the lower limbs. An extensive work-up led this motor neuron disease-like disorder to be diagnosed as adult-onset KD. The patient was found to be compound heterozygous for two GALC mutations (p.G286D and p.Y49…

MaleCellular and Molecular NeuroscienceHeterozygoteMutationGeneticsHumansSettore MED/26 - NeurologiaMiddle AgedGenetics (clinical)Compound heterozygous mutation GALC Adult-onset Krabbe disease Peripheral neuropathyGalactosylceramidaseLeukodystrophy Globoid Cell
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Efficacy and safety of tocilizumab in adult-onset Still's disease: Real-life experience from the international AIDA registry

2022

© 2022 Elsevier Inc.Background/objectives: Long-term efficacy and safety of tocilizumab (TCZ) in adult-onset Still's disease (AOSD) mostly derive from small case series. Herein we report a registry-based study investigating TCZ efficacy and safety in a cohort of patients with AOSD evaluated by clinical and serum inflammatory markers as well as drug retention rate analysis. Methods: This is an international multicentre study analyzing data from patients with AOSD regularly enrolled in the AIDA registry. TCZ efficacy was evaluated between baseline and last follow-up assessment in terms of changes in the Pouchot score and laboratory findings. Drug-retention rate was estimated by the Kaplan-Mei…

RegistrieAdultMaleSettore MED/16 - REUMATOLOGIAInterleukin-6Innovative biotechnologiesTocilizumabAdult-onset Still's diseaseAntibodies Monoclonal HumanizedPersonalized medicineAdult-onset Still's disease; Innovative biotechnologies; Interleukin-6; Personalized medicine; TocilizumabSettore MED/38 - Pediatria Generale E SpecialisticaAnesthesiology and Pain MedicineRheumatologyInnovative biotechnologieStill's diseaseHumansFemaleRegistriesImmunotherapyTocilizumab.Still's Disease Adult-OnsetHuman
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Dissecting the clinical heterogeneity of adult-onset Still's disease, results from a multi-dimensional characterisation and stratification

2021

Abstract Objectives To stratify adult-onset Still’s disease (AOSD) patients in distinct clinical subsets to be differently managed, by using a multi-dimensional characterization. Methods AOSD patients were evaluated by using a hierarchical unsupervised cluster analysis comprising age, laboratory markers systemic score and outcomes. The squared Euclidean distances between each pair of patients were calculated and put into a distance matrix, which served as the input clustering algorithm. Derived clusters were descriptively analysed for any possible difference. Results Four AOSD patients clusters were identified. Disease onset in cluster 1 was characterized by fever (100%), skin rash (92%) an…

myalgiaAdultmedicine.medical_specialtyAdult-onset Still's diseaseFeverprecision medicineArthritisAdult-onset Still's diseaseGastroenterologyRheumatologyInternal medicinemedicineSore throatHumansPharmacology (medical)Adult-onset Still’s diseasebiologybusiness.industryMortality rateArthritisExanthemaMiddle Agedmedicine.diseaseRashFerritinC-Reactive ProteinAdult-onset Still’s disease; precision medicineFerritinsMulti dimensionalbiology.proteinmedicine.symptombusinessStill's Disease Adult-OnsetAlgorithmsBiomarkers
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