Search results for "diagnostic"

showing 10 items of 8913 documents

Genetic justification of severe COVID-19 using a rigorous algorithm

2021

Recent studies suggest excessive complement activation in severe coronavirus disease-19 (COVID-19). The latter shares common characteristics with complement-mediated thrombotic microangiopathy (TMA). We hypothesized that genetic susceptibility would be evident in patients with severe COVID-19 (similar to TMA) and associated with disease severity. We analyzed genetic and clinical data from 97 patients hospitalized for COVID-19. Through targeted next-generation-sequencing we found an ADAMTS13 variant in 49 patients, along with two risk factor variants (C3, 21 patients; CFH,34 patients). 31 (32%) patients had a combination of these, which was independently associated with ICU hospitalization (…

0301 basic medicineMaleThrombomodulinSeverity of Illness Index0302 clinical medicineRisk FactorsImmunology and AllergyMedicineComplement ActivationRigorous algorithmmedicine.diagnostic_testHigh-Throughput Nucleotide SequencingComplement C3EculizumabEculizumabMiddle AgedHospitalizationSettore ICAR/09 - Tecnica Delle CostruzioniIntensive Care UnitsFactor HComplement Factor HFemaleAlgorithmsmedicine.drugmedicine.medical_specialtyThrombotic microangiopathyCritical CareImmunologyComplementADAMTS13 Protein03 medical and health sciencesInternal medicineFull Length ArticleSeverity of illnessGenetic predispositionGenetic susceptibilityHumansGenetic Predisposition to DiseaseGenetic TestingRisk factorGenetic testingAgedbusiness.industryThrombotic MicroangiopathiesCOVID-19medicine.diseaseComplement system030104 developmental biologySARS-CoV2business030215 immunologyClinical Immunology (Orlando, Fla.)
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Impact of Pre-Analytical Time on the Recovery of Pathogens from Blood Cultures: Results from a Large Retrospective Survey.

2017

Background Prompt identification of bloodstream pathogens is essential for optimal management of patients. Significant changes in analytical methods have improved the turnaround time for laboratory diagnosis. Less attention has been paid to the time elapsing from blood collection to incubation and to its potential effect on recovery of pathogens. We evaluated the performance of blood cultures collected under typical hospital conditions in relation to the length of their pre-analytical time. Methods We carried out a large retrospective study including 50,955 blood cultures collected, over a 30-month period, from 7,035 adult septic patients. Cultures were accepted by the laboratory only durin…

0301 basic medicineMaleTime FactorsResearch FacilitiesPhysiologylcsh:MedicineBacteremiaYeast and Fungal ModelsMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)Pathology and Laboratory MedicineTurnaround timeSurveys and QuestionnairesMedicine and Health SciencesMedicineBlood culturelcsh:ScienceIncubationCandidaFungal PathogensMultidisciplinarymedicine.diagnostic_testPre analyticalHematologyMiddle AgedHospitalsClinical Laboratory SciencesBody FluidsClinical LaboratoriesBloodItalyExperimental Organism SystemsMedical MicrobiologyFemaleAnatomyPathogensResearch LaboratoriesResearch ArticleBiotechnologymedicine.medical_specialtyCatheters030106 microbiologyMycologyResearch and Analysis MethodsMicrobiologySpecimen HandlingSepsis03 medical and health sciencesSigns and SymptomsRetrospective surveyDiagnostic MedicineInternal medicineSepsisHumansCandida AlbicansMicrobial PathogensAgedRetrospective StudiesBacteriological TechniquesBacteriabusiness.industryClinical Laboratory Techniqueslcsh:ROrganismsFungiBiology and Life SciencesRetrospective cohort studymedicine.diseaseYeastSurgeryBlood CultureBacteremialcsh:QMedical Devices and EquipmentbusinessGovernment LaboratoriesPloS one
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Impact of the BioFire FilmArray gastrointestinal panel on patient care and infection control.

2020

Contains fulltext : 218876.pdf (Publisher’s version ) (Open Access) OBJECTIVES: Conventional routine PCR testing for gastrointestinal infections is generally based on pathogen related panels specifically requested by clinicians and can be erroneous and time consuming. The BioFire FilmArray gastrointestinal (GI) panel combines 22 pathogens into a single cartridge-based test on a random-access system, thereby reducing the turnaround time to less than 2 hours. We described the clinical impact of implementing the BioFire FilmArray on patients with gastroenteritis in our hospital. METHODS: Patients attending a Dutch tertiary care center (Radboud University Medical Center), from whom stool sample…

0301 basic medicineMaleTime Factorslnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Pathology and Laboratory MedicineTertiary carePolymerase Chain ReactionTertiary Care CentersFeces0302 clinical medicineClinical historyAntibioticsMedicine and Health SciencesMedicineInfection controlUniversity medicalGastrointestinal Infections030212 general & internal medicineChildNetherlandsAged 80 and overPotential impactMultidisciplinaryWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]AntimicrobialsQRDrugsGastrointestinal AnalysisMiddle AgedGastroenteritisBacterial PathogensBioassays and Physiological AnalysisMolecular Diagnostic TechniquesMedical MicrobiologyChild PreschoolViral PathogensVirusesMedicinePathogensResearch ArticleAdultmedicine.medical_specialtyIsolation (health care)AdolescentClostridium DifficileScience030106 microbiologyGastroenterology and HepatologyResearch and Analysis MethodsMicrobiologyPatient care03 medical and health sciencesYoung AdultDiagnostic MedicineInternal medicineMicrobial ControlHumansMicrobial PathogensAgedPharmacologyInfection ControlBacteriabusiness.industryGut BacteriaInfant NewbornOrganismsInfantBiology and Life SciencesPatient datalnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4]Patient CarebusinessPloS one
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An in-depth analysis shows a hidden atherogenic lipoprotein profile in non-diabetic chronic kidney disease patients

2019

Background: Chronic kidney disease (CKD) is an independent risk factor for atherosclerotic disease. We hypothesized that CKD promotes a proatherogenic lipid profile modifying lipoprotein composition and particle number. Methods: Cross-sectional study in 395 non-diabetic individuals (209 CKD patients and 186 controls) without statin therapy. Conventional lipid determinations were combined with advanced lipoprotein profiling by nuclear magnetic resonance, and their discrimination ability was assessed by machine learning. Results: CKD patients showed an increase of very-low-density (VLDL) particles and a reduction of LDL particle size. Cholesterol and triglyceride content of VLDLs and intermed…

0301 basic medicineMaleVery low-density lipoproteinMagnetic Resonance SpectroscopyClinical BiochemistryMachine LearningPCSK9chemistry.chemical_compound0302 clinical medicineLp(a)Risk FactorsDrug DiscoveryProspective Studiesmedicine.diagnostic_testMiddle AgedLipids030220 oncology & carcinogenesisMolecular MedicineFemalelipids (amino acids peptides and proteins)Proprotein Convertase 9Adultmedicine.medical_specialtylipoprotein subfractionsLipoproteins03 medical and health sciencesInternal medicinemedicineHumansRisk factorRenal Insufficiency ChronicAgedPharmacologybusiness.industryCholesterolPCSK9dyslipidemiamedicine.diseaseAtherosclerosis030104 developmental biologyEndocrinologyCross-Sectional StudieschemistryCase-Control StudiesbusinessLipid profileDyslipidemiachronic kidney diseaseLipoproteinKidney disease
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CD3ε Expression Defines Functionally Distinct Subsets of Vδ1 T Cells in Patients With Human Immunodeficiency Virus Infection

2018

Human γδ T cells expressing the Vδ1 T cell receptor (TCR) recognize self and microbial antigens and stress-inducible molecules in a major histocompatibility complex -unrestricted manner and are an important source of innate interleukin-17. Vδ1 T cells are expanded in the circulation and intestines of patients with human immunodeficiency virus (HIV) infection. In the present study, we show that patients with HIV have elevated frequencies, but not absolute numbers, of circulating Vδ1 T cells compared to control subjects. This increase was most striking in the patients with Candida albicans co-infection. Using flow cytometry and confocal microscopy, we identify two populations of Vδ1 T cells, …

0301 basic medicineMalelcsh:Immunologic diseases. AllergyCD3 ComplexCD3T cellVδ1 T cellsImmunologyGene ExpressionHIV InfectionsMajor histocompatibility complexFlow cytometryImmunophenotypinginterleukin-1703 medical and health sciencesImmunophenotypingAntigenT-Lymphocyte SubsetsmedicineHumansImmunology and AllergyLymphocyte CountOriginal Researchprogrammed death-1biologymedicine.diagnostic_testhuman immunodeficiency virusCoinfectionflow cytometryT-cell receptorCandidiasisReceptors Antigen T-Cell gamma-deltaMolecular biology030104 developmental biologymedicine.anatomical_structurebiology.proteinHIV-1CytokinesFemaleInterleukin 17lcsh:RC581-607CD3εBiomarkersFrontiers in Immunology
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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

2019

Abstract Background Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with the classic phenotype with early-onset, multisystem manifestations evolving to vital organ complications during adulthood. We assessed the ability of 2 low-dose agalsidase beta regimens to lower skin, plasma, and urine globotriaosylceramide (GL-3) levels, and influence clinical manifestations in male pediatric Fabry patients. Methods In this multicenter, open-label, parallel-group, phase 3b study, male patients aged 5–18 years were randomized to receive agalsidase beta at 0.5 mg/kg 2-weekly (n = 16) or 1.0 mg/kg 4-w…

0301 basic medicineMalemedicine.medical_specialtyAbdominal painAdolescentEndocrinology Diabetes and MetabolismGlobotriaosylceramideUrologyRenal function030105 genetics & heredityBiochemistrylaw.invention03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyRandomized controlled triallawBiopsyGeneticsmedicineHumansEnzyme Replacement TherapyChildMolecular BiologySkinKidneymedicine.diagnostic_testDose-Response Relationship Drugbusiness.industryTrihexosylceramidesEnzyme replacement therapymedicine.diseaseFabry diseaseIsoenzymesmedicine.anatomical_structureTreatment OutcomechemistryChild Preschoolalpha-GalactosidaseFabry Diseasemedicine.symptombusiness030217 neurology & neurosurgeryMolecular genetics and metabolism
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Blood zinc levels and cognitive and functional evaluation in non-demented older patients.

2018

A complete battery of geriatric and psychometric tests was used to determine whether plasma-borne zinc (Zn), a key ion in neuroplasticity, can be associated with the severity of functional, psychological and cognitive impairment in non-demented older individuals. There was a significant positive correlation between plasma Zn levels and the concentration subcategory measured with the Mini-Mental State Examination (MMSE) test (p  0.001), but not the total MMSE score, and the levels were significantly reduced in polymedicated patients (defined as concurrent administration of5 drugs). No correlations were found between plasma Zn levels and depressive symptoms measured with the Yesavage scale fo…

0301 basic medicineMalemedicine.medical_specialtyAgingActivities of daily livingBarthel indexBiochemistrySeverity of Illness Index03 medical and health sciences0302 clinical medicineEndocrinologyCognitionOlder patientsInternal medicineActivities of Daily LivingGeneticsMedicineHumansCognitive DysfunctionMolecular BiologyGeriatric AssessmentDepression (differential diagnoses)AgedAged 80 and overPsychiatric Status Rating ScalesFunctional evaluationMini–Mental State Examinationmedicine.diagnostic_testbusiness.industryDepressionCognitionCell BiologyMiddle AgedPoor sleepZinc030104 developmental biologySpainFemalebusiness030217 neurology & neurosurgeryExperimental gerontology
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Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity

2017

9 páginas, 2 figuras, 4 tablas

0301 basic medicineMalemedicine.medical_specialtyMovement disordersScienceSubstantia nigraDiseaseComorbidityArticle03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansGenetic Predisposition to DiseaseFamily historyAmyotrophic lateral sclerosisPsychiatryGenetic Association StudiesGenetic testingAgedUltrasonographyMultidisciplinarymedicine.diagnostic_testbusiness.industryQCase-control studyRNeurodegenerative DiseasesMiddle Agedmedicine.diseaseComorbiditySubstantia Nigra030104 developmental biologyCase-Control StudiesMutationMedicineFemalemedicine.symptombusiness030217 neurology & neurosurgeryBiomarkers
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Mild behavioral impairment in Parkinson's disease: Data from the Parkinson's disease cognitive impairment study (PACOS)

2019

Neuropsychiatric symptoms (NPS) have been frequently described in Parkinson's disease (PD), even in the earliest stages of the disease. Recently the construct of mild behavioral impairment (MBI) has been proposed as an at-risk state for incident cognitive decline and dementia. The aim of the present study is to evaluate the prevalence and associated factors of MBI in PD. Cross-sectional data from 429 consecutive PD patients enrolled in the PArkinson's disease COgnitive impairment Study (PACOS) were included in the study. All subjects underwent neuropsychological assessment, according to the MDS Level II criteria. NPS were evaluated with the Neuropsychiatric Inventory. Multivariate logistic …

0301 basic medicineMalemedicine.medical_specialtyParkinson's diseaseParkinson's diseaseMild behavioral impairmentNeuropsychiatric symptomDiseaseCognitive impairment; Mild behavioral impairment; Neuropsychiatric symptoms; Parkinson's disease; Prevalence; Neuroscience (all); Clinical Psychology; Geriatrics and Gerontology; Psychiatry and Mental HealthNeuropsychological TestsLogistic regressionSeverity of Illness Index03 medical and health sciences0302 clinical medicineInternal medicinemedicinePrevalenceDementiaHumansCognitive DysfunctionNeuropsychological assessmentCognitive declineStage (cooking)Cognitive impairmentAgedNeuroscience (all)medicine.diagnostic_testbusiness.industryGeneral NeuroscienceParkinson DiseaseGeneral MedicineMiddle Agedmedicine.diseaseNeuropsychiatric symptomsClinical Psychology030104 developmental biologyCross-Sectional StudiesCognitive impairmentPsychiatry and Mental HealthFemaleGeriatrics and Gerontologybusiness030217 neurology & neurosurgery
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Performance evaluation of a newly developed molecular assay for the accurate diagnosis of gastroenteritis associated with norovirus of genogroup II

2018

The performance of a newly proposed fully automated cassette-based sample-to-results solution for norovirus (NoV) detection, InGenius Norovirus ELITe MGB®, was evaluated. A total of 120 selected archival stool samples from children hospitalized for acute gastroenteritis were used to compare the results to a reference real-time RT-PCR. The InGenius NoV assay showed optimal diagnostic accuracy (sensitivity, 100%; specificity, 95.7%) and was able to correctly detect the entire wide panel of epidemiologically relevant genotypes tested. These preliminary results suggest that the InGenius NoV assay can be recommended as a valuable method for accurate diagnosis of NoV GII infection in epidemic and…

0301 basic medicineMalemedicine.medical_specialtySettore MED/07 - Microbiologia E Microbiologia ClinicaAdolescentGenotype030106 microbiologyDiagnostic accuracyBiologymedicine.disease_causeReal-Time Polymerase Chain ReactionSensitivity and SpecificityFeces03 medical and health sciencesMedical microbiologyVirologyGenotypemedicineHumansChildCaliciviridae InfectionsNoroviruCaliciviridae InfectionGastroenteritiReverse Transcriptase Polymerase Chain ReactionNorovirusInfantGeneral MedicineAcute gastroenteritisbacterial infections and mycosesVirologyGastroenteritis030104 developmental biologyCaliciviridae InfectionsFully automatedChild PreschoolNorovirusFeceFemaleHuman
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