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showing 10 items of 1287 documents

“Better explanations” in multiple sclerosis diagnostic workup

2019

BackgroundThe exclusion of other diseases that can mimic multiple sclerosis (MS) is the cornerstone of current diagnostic criteria. However, data on the frequency of MS mimics in real life are incomplete.MethodsA total of 695 patients presenting with symptoms suggestive of MS in any of the 22 RIREMS centers underwent a detailed diagnostic workup, including a brain and spinal cord MRI scan, CSF and blood examinations, and a 3-year clinical and radiologic follow-up.FindingsA total of 667 patients completed the study. Alternative diagnoses were formulated in 163 (24.4%) cases, the most frequent being nonspecific neurologic symptoms in association with atypical MRI lesions of suspected vascular…

Male404241Longitudinal StudieDisease0302 clinical medicineMultiple SclerosiDiagnosisMedicine030212 general & internal medicineProspective StudiesLongitudinal StudiesProspective cohort studymedicine.diagnostic_testMagnetic Resonance Imagingclinical practiceatypical MRI lesionsMS mimicsDisease ProgressionFemaleSettore MED/26 - NeurologiaRadiologyHumanAdultmultiple sclerosis; diagnostic criteria; atypical MRI lesions; MS mimics; clinical practicemedicine.medical_specialtyMultiple Sclerosis2omarkers / metabolism Diagnosis Differential Female Follow-Up Studies Humans Longitudinal Studies Magnetic Resonance Imaging Male Multiple Sclerosis / diagnosis* Prospective StudiesArticleFollow-Up StudieDiagnosis Differential03 medical and health sciencesHumansNeuromyelitis opticabusiness.industryMultiple sclerosisAdult; Biomarkers; Diagnosis Differential; Female; Follow-Up Studies; Humans; Longitudinal Studies; Magnetic Resonance Imaging; Male; Multiple Sclerosis; Prospective StudiesMagnetic resonance imagingOdds ratioBiomarkermedicine.disease101MigraineDifferentialdiagnostic criteriaNeurology (clinical)Differential diagnosisbusiness030217 neurology & neurosurgeryBiomarkersFollow-Up StudiesNeurology
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Occult hepatitis B virus infection

2000

Many studies have shown that hepatitis B virus infection may also occur in hepatitis B surface antigen-negative patients. This occult infection has been identified both in patients with cryptogenic liver disease and in patients with hepatitis C virus-related chronic hepatitis, and much evidence suggests that it may be a risk factor of hepatocellular carcinoma development. However several aspects of this occult infection remain unclear such as its prevalence and the factor(s) involved in the lack of circulating hepatitis B surface antigen. Moreover, it is uncertain whether the occult hepatitis B virus infection may contribute to chronic liver damage, considering that it is usually associated…

MaleACUTE VIRAL-HEPATITISPOSTTRANSFUSION HEPATITISHBV SURFACE-ANTIGENComorbidityHBV genome HBsAg-negative liver DNA liver diseasemedicine.disease_causeSeverity of Illness IndexSEROLOGICAL MARKERS; TRANSPLANT RECIPIENTS; POSTTRANSFUSION HEPATITIS; HEPATITIS C VIRUS; HEPATOCELLULAR-CARCINOMA; HBV SURFACE-ANTIGEN; ACUTE VIRAL-HEPATITIS; CHRONIC LIVER-DISEASE; POLYMERASE CHAIN-REACTION; occult hepatitis B virus infectionLiver diseaseCHRONIC LIVER-DISEASEHEPATOCELLULAR-CARCINOMAChronic/diagnosis* Hepatitis BDifferential Disease Progression Female Hepatitis B Surface Antigens/analysis* Hepatitis Bhbsag-negative; hbv genome; liver disease; liver dnaIncidenceHepatocellular/diagnosis CarcinomaLiver NeoplasmsGastroenterologyHepatitis CHepatitis BPOLYMERASE CHAIN-REACTIONPrognosisChronic/epidemiology* Humans Incidence Liver Neoplasms/diagnosis Liver Neoplasms/epidemiology* Male Prognosis Risk Assessment Severity of Illness IndexCarcinoma Hepatocellular/diagnosis Carcinoma Hepatocellular/epidemiology* Comorbidity DNA Viral/analysis Diagnosis Differential Disease Progression Female Hepatitis B Surface Antigens/analysis* Hepatitis B Chronic/diagnosis* Hepatitis B Chronic/epidemiology* Humans Incidence Liver Neoplasms/diagnosis Liver Neoplasms/epidemiology* Male Prognosis Risk Assessment Severity of Illness IndexHepatocellular carcinomaDisease Progressionhbv genomeFemaleliver diseaseCarcinoma HepatocellularTRANSPLANT RECIPIENTSRisk AssessmentDiagnosis Differentialoccult hepatitis B virus infectionHepatitis B ChronicViral/analysis DiagnosismedicineHumansRisk factorHepatitis B virusHepatitis B Surface AntigensHepatologybusiness.industryCarcinomaHEPATITIS C VIRUShbsag-negativeliver dnamedicine.diseaseOccultVirologyHepatocellular/epidemiology* Comorbidity DNASEROLOGICAL MARKERSViral replicationImmunologyDNA Viralbusiness
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Resolved versus confirmed ARDS after 24 h: insights from the LUNG SAFE study

2018

Purpose: To evaluate patients with resolved versus confirmed ARDS, identify subgroups with substantial mortality risk, and to determine the utility of day 2 ARDS reclassification. Methods: Our primary objective, in this secondary LUNG SAFE analysis, was to compare outcome in patients with resolved versus confirmed ARDS after 24 h. Secondary objectives included identifying factors associated with ARDS persistence and mortality, and the utility of day 2 ARDS reclassification. Results: Of 2377 patients fulfilling the ARDS definition on the first day of ARDS (day 1) and receiving invasive mechanical ventilation, 503 (24%) no longer fulfilled the ARDS definition the next day, 52% of whom initial…

MaleARDSmedicine.medical_treatmentlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]ARDS reassessment; ARDS Survival; Berlin criteria ARDS; Persisting ARDS;Critical Care and Intensive Care Medicineassisted ventilation0302 clinical medicineRisk Factors030212 general & internal medicinerisk factor AdultTidal volumecomparative studyeducation.field_of_studyRespiratory Distress SyndromeMortality rateRemission Inductiontidal volumeARDS reassessment; ARDS Survival; Berlin criteria ARDS; Persisting ARDS; Critical Care and Intensive Care MedicineARDS reassessmentartificial ventilationclinical trialimmunosuppressive treatmentadult respiratory distress syndromeMiddle AgedARDS SurvivalMonte Carlo methodmedicine.anatomical_structureclassificationpositive end expiratory pressureCardiologyDisease ProgressionSOFA scoredisease severityFemaleAdultmedicine.medical_specialtyPopulationdisease classificationArticleNO03 medical and health sciencesremissionlength of stayAnesthesiologyInternal medicinemedicinepneumoniaSequential Organ Failure Assessment ScoreHumanshumaneducationAgedMechanical ventilationhospital mortalityLungbusiness.industryRisk Factordisease associationRespiratory Distress Syndrome AdultPersisting ARDSmedicine.diseasemajor clinical studymortalityRespiration Artificialbreathing rate030228 respiratory systemdisease exacerbationBerlin criteria ARDSbusinessIntensive care medicine
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Invasive Strategy in Patients With Advanced Diabetes and Non-ST-Segment Elevation Acute Coronary Syndrome. Angiographic Findings and Clinical Follow-…

2006

Introduction and objectives Advanced diabetes can be associated with diffuse coronary artery disease that is difficult to treat by revascularization. We studied angiographic findings and disease progression in patients with advanced diabetes (either insulin-dependent or taking antidiabetic drugs for >5 years) and non-ST-elevation acute coronary syndrome who were being treated using an invasive strategy. Methods The study included 141 patients. The extent of the coronary artery disease was quantified using a score derived from a 29-segment coronary angiogram. The composite endpoint was death, myocardial infarction, or readmission for unstable angina within one year of follow-up. Results The …

MaleAcute coronary syndromemedicine.medical_specialtymedicine.medical_treatmentMyocardial InfarctionCoronary AngiographyRevascularizationDiabetes ComplicationsCoronary artery diseaseElectrocardiographyInternal medicineDiabetes mellitusMyocardial RevascularizationmedicineHumansAngina UnstableProspective StudiesMyocardial infarctionAgedKillip classEjection fractionUnstable anginabusiness.industrySyndromeGeneral Medicinemedicine.diseaseAcute DiseaseDisease ProgressionCardiologyFemalebusinessFollow-Up StudiesRevista Española de Cardiología (English Edition)
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Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript.

2000

This study describes a new case of Ewing sarcoma (ES)-peripheral primitive neuroectodermal tumor (pPNET) with unusual phenotype and fusion gene structure. The tumor located in the inguinal area of a 15-year-old boy showed a highly aggressive behavior with hematogenous metastases after intensive chemotherapy and bone marrow transplant, causing death 28 months after diagnosis. The tumor displayed a clear cell pattern, and several neuroectodermal markers proved positive both in the original tumor and in xenografts. This neuroectodermal character was confirmed by electron microscopy. Moreover, cytogenetically the tumor has an unusual chromosomal rearrangement, t(2;22)(q13;q22,t(3;18)(p21;q23); …

MaleAdolescentOncogene Proteins FusionChromosomes Human Pair 22Transplantation HeterologousMice NudeSoft Tissue NeoplasmsChromosomal rearrangementSarcoma EwingBiologyGroinTranslocation GeneticPathology and Forensic MedicineFusion geneExonMiceFatal OutcomemedicineTumor Cells CulturedAnimalsHumansNeuroectodermal Tumors PrimitiveNeoplasm MetastasisMolecular BiologyPeripheral Primitive Neuroectodermal TumorReverse Transcriptase Polymerase Chain ReactionCell BiologyExonsmedicine.diseasePrognosisCombined Modality TherapyNeoplasm ProteinsFusion transcriptPrimitive neuroectodermal tumorChromosomes Human Pair 2KaryotypingCancer researchDisease ProgressionSarcomaClear cellDiagnostic molecular pathology : the American journal of surgical pathology, part B
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A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome

2010

Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047).…

MaleAged; Amino Acid Sequence; Animals; Disease Progression; Epidemiologic Methods; Female; Genetic Predisposition to Disease; Genotype; Humans; LDL-Receptor Related Proteins; Leukemia Lymphocytic Chronic B-Cell; Lymphoma; Male; Middle Aged; Molecular Sequence Data; Neoplasm Proteins; Polymorphism Single Nucleotide; Prognosis; Sequence Alignment; SyndromeGenotypeLymphomaMolecular Sequence DataLRP4genetics/metabolismRichter syndrome; chronic lymphocytic leukemia; LRP4 genePolymorphism Single NucleotideAnimalsHumansGenetic Predisposition to DiseaseAmino Acid SequenceChronicPolymorphismLDL-Receptor Related ProteinsAgedLeukemiaLRP4 geneB-CellSingle NucleotideSyndromeMiddle AgedPrognosisRichter syndrome.Leukemia Lymphocytic Chronic B-Cellsingle nucleotide polimorphismLymphocyticdiffuse large B cell lymphomaNeoplasm ProteinsAged Amino Acid Sequence Animals Disease Progression Epidemiologic Methods Female Genetic Predisposition to Disease Genotype Humans LDL-Receptor Related Proteins; genetics/metabolism Leukemia; Lymphocytic; Chronic; B-Cell; genetics/metabolism Lymphoma; genetics/metabolism Male Middle Aged Molecular Sequence Data Neoplasm Proteins; genetics/metabolism Polymorphism; Single Nucleotide Prognosis Sequence Alignment SyndromeSettore MED/15 - MALATTIE DEL SANGUERichter syndrome; chronic lymphocytic leukaemia; diffuse large B cell lymphoma; single nucleotide polimorphism; LRP4Disease Progressionchronic lymphocytic leukemiaFemaleRichter syndromeEpidemiologic MethodsSequence Alignmentchronic lymphocytic leukaemia
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Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

2011

11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204

MaleAgingMitochondrial DiseasesMitochondrial MyopathyUbiquinoneCardiomyopathylcsh:MedicineMitochondrionAMP-Activated Protein Kinasesp38 Mitogen-Activated Protein KinasesAntioxidantsAdenosine TriphosphateAMP-activated protein kinaseTrinucleotide RepeatsFibrosisMolecular Cell BiologyChildlcsh:ScienceHeat-Shock ProteinsRegulation of gene expressionMultidisciplinaryMovement DisordersbiologyNeuromuscular DiseasesMiddle AgedCatalasePeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaCell biologyMitochondriaDNA-Binding ProteinsNeurologyDisease ProgressionMedicineFemalemedicine.symptomSignal TransductionResearch ArticleAdultcongenital hereditary and neonatal diseases and abnormalitiesAtaxiaAdolescentMitochondrial ProteinsmedicineGeneticsHumansBiologyAllelesGlutathione PeroxidaseSuperoxide Dismutaselcsh:RHuman GeneticsFibroblastsmedicine.diseaseMolecular biologyOxidative StressMitochondrial biogenesisGene Expression RegulationFriedreich Ataxiabiology.proteinFrataxinlcsh:QEnergy MetabolismReactive Oxygen SpeciesTranscription FactorsPLoS ONE
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HFE p.H63D polymorphism does not influence ALS phenotype and survival.

2015

It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significa…

MaleAgingSurvivalSettore MED/03 - GENETICA MEDICAMiceSuperoxide Dismutase-1C9orf72HFE polymorphismAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Aged; Alleles; Amyotrophic Lateral Sclerosis; Animals; Disease Progression; Female; Hemochromatosis Protein; Histocompatibility Antigens Class I; Humans; Italy; Male; Membrane Proteins; Mice; Middle Aged; Polymorphism Genetic; Superoxide Dismutase; Superoxide Dismutase-1; Survival Rate; Genetic Association Studies; PhenotypeHFE polymorphismsMembrane ProteinAlleleAmyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGeneral NeuroscienceSOD1Middle AgedPhenotypeSurvival RatePhenotypeItalyAmyotrophic lateral sclerosis; HFE polymorphisms; SOD1; phenotype; survivalDisease ProgressionFemaleHumanmedicine.medical_specialtySOD1Amyotrophic lateral sclerosis; HFE polymorphisms; Phenotype; SOD1; Survival;Genetic Association StudieBiologyTARDBPArticleGeneticInternal medicinemedicineAnimalsHumansAllelePolymorphismHemochromatosis ProteinSurvival rateAmyotrophic lateral sclerosiAllelesGenetic Association StudiesAgedNeuroscience (all)Polymorphism GeneticAnimalSuperoxide DismutaseAmyotrophic Lateral SclerosisHistocompatibility Antigens Class Inutritional and metabolic diseasesMembrane Proteinsmedicine.diseaseMinor allele frequencyEndocrinologyImmunologyNeurology (clinical)Geriatrics and GerontologyDevelopmental BiologyNeurobiology of aging
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Analysis of early biochemical markers and regulation by tin protoporphyrin IX in a model of spontaneous osteoarthritis

2011

Abstract Age-related changes in joint tissues lead to osteoarthritis (OA). Detection of early changes in OA patients may help to initiate treatments before the establishment of irreversible joint destruction. STR/ort mice develop with age a severe degenerative joint disease that resembles human OA thus allowing the investigation of biochemical markers as well as new treatments in an accelerated time frame. We have analyzed the changes in serum levels of different mediators during the early phases of idiopathic OA in STR/ort mice. Serum levels of matrix metalloproteinase-3 (MMP-3) but not those of tumor necrosis factor-α, interleukin(IL)-1β, IL-17 or prostaglandin E 2 correlated with histopa…

MaleAgingmedicine.medical_specialtyPathologyMetalloporphyrinsmedicine.medical_treatmentDrug Evaluation PreclinicalProtoporphyrinsMice Inbred StrainsOsteoarthritisMatrix metalloproteinaseBiochemistryMiceEndocrinologyInternal medicineOsteoarthritisGeneticsmedicineAnimalsEnzyme InhibitorsMolecular BiologyBiochemical markersbusiness.industryInterleukinCell BiologyClinical Enzyme TestsTin protoporphyrin IXmedicine.diseaseArthritis ExperimentalEarly DiagnosisEndocrinologyHeme Oxygenase (Decyclizing)Disease ProgressionBiomarker (medicine)Matrix Metalloproteinase 3Tumor necrosis factor alphaInflammation MediatorsbusinessBiomarkersProstaglandin EExperimental Gerontology
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Bronchial hyperresponsiveness in children with atopic rhinitis: a 7-year follow-up

2004

Background:  A high prevalence of bronchial hyperresponsiveness (BHR) was found in atopic subjects with rhinitis. Those subjects may be at higher risk for developing bronchial asthma. We evaluated, in a 7-year follow-up, BHR and atopy in a homogeneous population of nonasthmatic children with allergic rhinitis (AR), and their role in asthma development. Methods:  Twenty-eight children (6–15 years) with AR were studied. At enrollment (T0), skin tests, total serum IgE assay, peak expiratory flow (PEF) monitoring and methacholine (Mch) bronchial challenge were performed. BHR was computed as the Mch dose causing a 20% forced expiratory volume (FEV)1 fall (PD20FEV1) and as dose–response slope (DR…

MaleAllergymedicine.medical_specialtyAdolescentAtopic RhinitisImmunologyPopulationLongitudinal StudieFollow-Up StudieAtopychildrennonspecific bronchial hyperresponsivenessInternal medicinemedicineHypersensitivityHumansImmunology and AllergyLongitudinal StudiesHumans; Disease Progression; Asthma; Child; Rhinitis; Longitudinal Studies; Hypersensitivity; Pulmonary Ventilation; Bronchial Hyperreactivity; Follow-Up Studies; Adolescent; Female; MaleeducationChildRhinitiRhinitisAsthmaeducation.field_of_studyallergic rhinitis; asthma; children; methacholine test; nonspecific bronchial hyperresponsivenessallergic rhinitisbusiness.industryRespiratory diseasemethacholine testrespiratory systemasthmamedicine.diseaserespiratory tract diseasesBronchial hyperresponsivenessImmunologyDisease ProgressionMethacholineFemaleBronchial HyperreactivitybusinessPulmonary VentilationFollow-Up Studiesmedicine.drugHuman
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