Search results for "Hyperferritinemia"

showing 5 items of 5 documents

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.

2022

Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound h…

General Immunology and Microbiologymisdiagnosis.hyperferritinemiaGaucher disease; hyperferritinemia; hemochromatosis; misdiagnosisGaucher diseasehemochromatosiGeneral Agricultural and Biological SciencesGeneral Biochemistry Genetics and Molecular BiologyBiology
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Increased level of H-ferritin and its imbalance with L-ferritin, in bone marrow and liver of patients with adult onset Still's disease, developing ma…

2015

In this paper, we aimed to evaluate the levels of ferritin enriched in H subunits (H-ferritin) and ferritin enriched in L subunits (L-ferritin) and the cells expressing these 2 molecules, in the bone marrow (BM) and liver biopsies obtained from adult onset Still's disease (AOSD) patients who developed macrophage activation syndrome (MAS), and correlating these data with the severity of the disease. Twenty-one patients with MAS-associated AOSD underwent BM biopsy and among them, 9 patients with hepatomegaly and elevated liver enzymes underwent liver biopsy. All the samples were stained by both immunohistochemistry and immunofluorescence. A statistical analysis was performed to estimate the p…

Adult-OnsetAdultPathologymedicine.medical_specialtyApoferritinImmunologyAdult-onset Still's disease; Hyperferritinemia; Macrophage activation syndrome; Adult; Age of Onset; Animals; Apoferritins; Bone Marrow; Humans; Liver; Macrophage Activation Syndrome; Still's Disease Adult-Onset; Immunology; Immunology and Allergy; Medicine (all)ImmunofluorescenceAdult-onset Still's diseaseBone MarrowBiopsymedicineAnimalsHumansImmunology and AllergyAge of Onsetmedicine.diagnostic_testbiologyCD68business.industryAnimalMacrophage Activation SyndromeMedicine (all)medicine.diseaseStill's DiseaseFerritinmedicine.anatomical_structureLiverMacrophage activation syndromeLiver biopsyApoferritinsbiology.proteinImmunohistochemistryBone marrowHyperferritinemiabusinessStill's Disease Adult-OnsetHuman
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Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in…

2021

Abstract Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clini…

Coronary artery abnormalities; Hypotension; Kawasaki disease; Multisystem inflammatory syndrome associated with coronavirus disease; Myocarditis; Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection; SARS-CoV-2; Age Distribution; Antirheumatic Agents; Aspirin; C-Reactive Protein; COVID-19; Child; Child Preschool; Coronary Artery Disease; Cough; Diarrhea; Dyspnea; Female; Glucocorticoids; Heart Failure; Humans; Hyperferritinemia; Hypotension; Immunoglobulins Intravenous; Immunologic Factors; Infant; Intensive Care Units Pediatric; Interleukin 1 Receptor Antagonist Protein; Italy; Lymphopenia; Male; Mucocutaneous Lymph Node Syndrome; Myocarditis; Platelet Aggregation Inhibitors; SARS-CoV-2; Shock; Systemic Inflammatory Response Syndrome; Tachypnea; Troponin T; VomitingMalelcsh:Diseases of the musculoskeletal systemcoronary artery abnormalities; hypotension; kawasaki disease; multisystem inflammatory syndrome associated with coronavirus disease; myocarditis; pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection; SARS-CoV-2; age distribution; antirheumatic agents; aspirin; C-reactive protein; COVID-19; child ; preschool; coronary artery disease; cough; diarrhea; yspnea; female; glucocorticoids; heart failure; humans; hyperferritinemia; hypotension; immunoglobulins; intravenous; immunologic factors; infant; intensive care units; pediatric; interleukin 1 receptor antagonist protein; italy; lymphopenia; male; mucocutaneous lymph node syndrome; myocarditis; platelet aggregation inhibitors; SARS-CoV-2; shock; systemic inflammatory response syndrome; tachypnea; troponin T; vomitingMyocarditiCoronary Artery Disease030204 cardiovascular system & hematologySARS-CoV-2 Kawasaki disease Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection Myocarditis Hypotension Multisystem inflammatory syndrome associated with coronavirus disease Coronary artery abnormalitiesCoronary artery diseaseSettore MED/38 - Pediatria Generale E Specialistica0302 clinical medicineGlucocorticoidImmunologic FactorMultisystem inflammatory syndrome associated with coronavirus diseaseImmunology and AllergyChildCoronary artery abnormalitieFisher's exact testPediatricTachypneabiologylcsh:RJ1-570Antirheumatic AgentImmunoglobulins IntravenousShockPediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infectionSettore MED/38Systemic Inflammatory Response SyndromeIntensive Care UnitsMyocarditisC-Reactive ProteinItalyAntirheumatic AgentsChild PreschoolCohortsymbolsPlatelet aggregation inhibitorFemaleHypotensionIntravenousCoronary artery abnormalitiesHumanResearch ArticleDiarrheamedicine.medical_specialtyMyocarditisVomitingImmunoglobulinsMucocutaneous Lymph Node SyndromeIntensive Care Units Pediatric03 medical and health sciencessymbols.namesakeAge DistributionRheumatologyTroponin TInternal medicineLymphopeniamedicineHumansImmunologic FactorsPreschoolGlucocorticoids030203 arthritis & rheumatologyHeart FailureAspirinKawasaki diseasebusiness.industrySARS-CoV-2Platelet Aggregation InhibitorC-reactive proteinCOVID-19Infantlcsh:Pediatricsmedicine.diseaseSystemic inflammatory response syndromeInterleukin 1 Receptor Antagonist ProteinDyspneaCoughImmunoglobulins IntravenouPediatrics Perinatology and Child Healthbiology.proteinKawasaki diseaseHyperferritinemialcsh:RC925-935businessPlatelet Aggregation InhibitorsPediatric rheumatology online journal
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Development and initial validation of a composite disease activity score for systemic juvenile idiopathic arthritis

2020

Made available in DSpace on 2021-06-25T10:38:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-11-01 Healthway Objective. To develop a composite disease activity score for systemic JIA (sJIA) and to provide preliminary evidence of its validity. Methods. The systemic Juvenile Arthritis Disease Activity Score (sJADAS) was constructed by adding to the four items of the original JADAS a fifth item that aimed to quantify the activity of systemic features. Validation analyses were conducted on patients with definite or probable/possible sJIA enrolled at first visit or at the time of a flare, who had active systemic manifestations, which should include fever. Patients were reassessed 2 wee…

MaleClinical assessment; Composite disease activity score; Disease activity; Outcome measures; Pediatric rheumatology; Still's disease; Systemic juvenile idiopathic arthritismedicine.medical_specialtyFeverClinical assessmentComposite disease activity scoreArthritisLymphadenopathyDiseaseSeverity of Illness IndexOutcome measuresOutcome measureJuvenile Arthritis Disease Activity ScoreRheumatologyCronbach's alphaSystemic juvenile idiopathic arthritisInternal medicineStill's diseaseContent validityMedicineJuvenileHumansPharmacology (medical)Pediatric rheumatologyDisease activityRange of Motion ArticularChildPain MeasurementSerositisThrombocytosisbusiness.industryConstruct validityReproducibility of ResultsAnemiaExanthemamedicine.diseaseArthralgiaRheumatologyArthritis JuvenileChild PreschoolSplenomegalyQuality of LifeFemaleHyperferritinemiabusinessHepatomegaly
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Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

2009

AIM: To investigate the relationship between ferritin and steatosis in patients with chronically abnormal liver function tests (LFTs) and high ferritin level. METHODS: One hundred and twenty-four consecutive patients with hyperferritinemia (male > 300 ng/mL, female > 200 ng/mL) were evaluated; clinical, biochemical and serological data, iron status parameters, HFE gene mutations and homeostasis model assessment score were obtained. Steatosis was graded by ultrasound as absent or present. Histology was available in 53 patients only. RESULTS: Mean level of ferritin was 881 ± 77 ng/mL in men and 549 ± 82 ng/mL in women. The diagnosis was chronic hepatitis C in 53 (42.7%), non-alcoholic fatty l…

MalePathologymedicine.medical_specialtyHyperferritinemia chronic liver disease.Chronic liver diseaseGastroenterologyLiver Function TestsRisk FactorsInternal medicinemedicineHumansmedicine.diagnostic_testbiologybusiness.industryLiver DiseasesFatty liverGastroenterologyGeneral MedicineMiddle Agedmedicine.diseaseFerritinFatty LiverBrief ArticlesLiver biopsyHereditary hemochromatosisChronic DiseaseFerritinsMutationbiology.proteinAbnormal Liver Function TestFemaleSteatosisSteatohepatitisbusinessWorld journal of gastroenterology
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