Search results for "ETIOLOGY"

showing 10 items of 639 documents

Circulating monocyte subsets and heart failure prognosis

2018

Altres ajuts: Fundacio' La MARATO' de TV3 (201502 to ABG, 201516), AdvanceCat with the support of ACCIÓ [Catalonia Trade & Investment, Generalitat de Catalunya], Fundació Bancària La Caixa. Monocytes are a heterogeneous population of effector cells with key roles in tissue integrity restoration and maintenance. Here, we explore the association of monocyte subsets and prognosis in patients with ambulatory heart failure (HF). Monocyte subsets were classified as classical (CD14 ++ /CD16 -), intermediate (CD14 ++ /CD16 +), or non-classical (CD14 + /CD16 ++). Percentage distribution and absolute cell count were assessed in each subset, and multivariable Cox regression analyses were performed wit…

Male0301 basic medicineEtiologylcsh:Medicine030204 cardiovascular system & hematologyPathology and Laboratory MedicineMonocytesWhite Blood CellsMathematical and Statistical Techniques0302 clinical medicineAnimal CellsCell MovementRisk FactorsCause of DeathMedicine and Health Scienceslcsh:ScienceCause of deathMultidisciplinaryEjection fractionHeartPrognosismedicine.anatomical_structurePhysical SciencesAmbulatoryCardiologyRegression AnalysisFemaleCellular TypesAnatomyStatistics (Mathematics)Research Articlemedicine.medical_specialtyImmune CellsCD14ImmunologyCell Enumeration TechniquesCardiologyResearch and Analysis MethodsDisease-Free Survival03 medical and health sciencesDiagnostic MedicineInternal medicinemedicineHumansStatistical MethodsAgedProportional Hazards ModelsHeart FailureBlood Cellsbusiness.industryProportional hazards modelMonocytelcsh:RBiology and Life SciencesCell Biologymedicine.disease030104 developmental biologyVentricleHeart failureCardiovascular Anatomylcsh:QbusinessMathematicsEjection FractionPLOS ONE
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Bacterial etiology of community-acquired pneumonia in immunocompetent hospitalized patients and appropriateness of empirical treatment recommendation…

2020

An accurate knowledge of the epidemiology of community-acquired pneumonia (CAP) is key for selecting appropriate antimicrobial treatments. Very few etiological studies assessed the appropriateness of empiric guideline recommendations at a multinational level. This study aims at the following: (i) describing the bacterial etiologic distribution of CAP and (ii) assessing the appropriateness of the empirical treatment recommendations by clinical practice guidelines (CPGs) for CAP in light of the bacterial pathogens diagnosed as causative agents of CAP. Secondary analysis of the GLIMP, a point-prevalence international study which enrolled adults hospitalized with CAP in 2015. The analysis was l…

Male0301 basic medicineMicrobiology (medical)medicine.medical_specialtyCommunity-acquired pneumonia030106 microbiologyAntimicrobial treatmentPrevalenceGuidelineSettore MED/10 - Malattie Dell'Apparato RespiratorioGuidelinesGlobal Healthmedicine.disease_causeImmunocompromised Host03 medical and health sciences0302 clinical medicineMedical microbiologyCommunity-acquired pneumoniaInternal medicineEpidemiologyStreptococcus pneumoniaePneumonia BacterialPrevalenceHumansMedicine030212 general & internal medicinePractice Patterns Physicians'AgedAged 80 and overbusiness.industryCorrectionGeneral MedicineGuidelineMiddle Agedmedicine.diseaseAnti-Bacterial AgentsCommunity-Acquired InfectionsHospitalizationPneumoniaInfectious DiseasesStreptococcus pneumoniaePractice Guidelines as TopicPseudomonas aeruginosaEtiologyOriginal ArticleFemaleGuideline Adherencebusiness
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Predicting resistant etiology in hospitalized patients with blood cultures positive for Gram-negative bacilli

2018

Abstract Objective To develop a risk-scoring tool to predict multidrug-resistant (MDR) etiology in patients with bloodstream infections (BSI) caused by Gram-negative bacilli (GNB). Methods A prospective multicenter study analyzed patients with BSI hospitalized in 31 Internal Medicine wards in Italy from March 2012 to December 2012. Patients with BSI caused by MDR-GNB (non-susceptible to at least one agent in three antimicrobial categories) were compared to those with BSI due to susceptible GNB. A logistic regression to identify predictive factors of MDR-GNB was performed and the odds ratio (OR) were calculated. A score to predict the risk of MDR was developed. Results Of 533 BSI episodes, 2…

Male0301 basic medicineMultivariate analysisGram-negative bacilliHospitalized patientsLogistic regressionLikelihood ratios in diagnostic testingRisk FactorsDrug Resistance Multiple BacterialMedicineAge FactorMultidrug-resistantProspective StudiesMultivariate AnalysiAged 80 and overAge FactorsAnti-Bacterial AgentsHospitalizationItalyBloodstream infections; Gram-negative bacilli; Multidrug-resistantBloodstream infections; Gram-negative bacilli; Multidrug-resistant; Internal MedicineFemaleSettore SECS-S/01 - StatisticaHumanmedicine.medical_specialtyLogistic Model030106 microbiologyBloodstream infection03 medical and health sciencesInternal medicineAnti-Bacterial AgentGram-Negative BacteriaGram-Negative Bacterial InfectionInternal MedicineHumansAgedbusiness.industryRisk FactorGram negative bacilliOdds ratiomedicine.diseaseProspective StudieLogistic ModelsROC CurveBlood CultureBacteremiaMultivariate AnalysisEtiologyBloodstream infectionsGram-Negative Bacterial Infectionsbusiness
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

2018

ObjectivePrimary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportiona…

Male0301 basic medicineOncologyCandidate geneCholangitismedicine.medical_treatmentMedizinTrasplantament hepàticGenome-wide association studyKaplan-Meier EstimateLIVER FIBROSISLiver transplantationBioinformaticsSclerosingOral and gastrointestinalPrimary sclerosing cholangitis; genetics; liver transplantationCohort StudiesACTIVATION0302 clinical medicineMED/12 - GASTROENTEROLOGIAMULTIPLE2.1 Biological and endogenous factorsEPIDEMIOLOGYgeneticsAetiologyCIRRHOSISliver transplantationBilious diseases and biliousnessPrimary sclerosing cholangitisLiver Diseasedigestive oral and skin physiologyGastroenterologySingle NucleotidePrimary sclerosing cholangitiMiddle Aged3. Good healthULCERATIVE-COLITISDisease ProgressionFemale030211 gastroenterology & hepatologyAdultmedicine.medical_specialtyCholangitis SclerosingChronic Liver Disease and CirrhosisClinical SciencesMalalties del tracte biliarSingle-nucleotide polymorphismHEPATIC STELLATE CELLSPolymorphism Single NucleotideInternational PSC Study GroupArticlePrimary sclerosing cholangitisPaediatrics and Reproductive Medicine03 medical and health sciencesRare DiseasesClinical ResearchInternal medicineGeneticsmedicineHumansPolymorphismGENOME-WIDE ASSOCIATIONAlleleDigestive Diseases - (Gallbladder)Survival analysisProportional Hazards ModelsMALIGNANCYThe UK PSC ConsortiumTransplantationGastroenterology & Hepatologybusiness.industryProportional hazards modelmedicine.diseaseRISK LOCILogistic Models030104 developmental biology3121 General medicine internal medicine and other clinical medicinegeneticHepatic transplantationThrombospondinsDigestive DiseasesbusinessGenèticaGut
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Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium

2016

Background Data are limited on genome-wide association studies (GWAS) for incident coronary heart disease (CHD). Moreover, it is not known whether genetic variants identified to date also associate with risk of CHD in a prospective setting. Methods We performed a two-stage GWAS analysis of incident myocardial infarction (MI) and CHD in a total of 64,297 individuals (including 3898 MI cases, 5465 CHD cases). SNPs that passed an arbitrary threshold of 5×10−6 in Stage I were taken to Stage II for further discovery. Furthermore, in an analysis of prognosis, we studied whether known SNPs from former GWAS were associated with total mortality in individuals who experienced MI during follow-up. Res…

Male0301 basic medicineOncologyPREDICTIONMyocardial Infarctionlcsh:MedicineGenome-wide association studyCoronary Artery DiseaseCardiovascular MedicineSUSCEPTIBILITY030204 cardiovascular system & hematologyCardiovascularBioinformaticsincident myocardial infarctionCohort StudiesCoronary artery diseaseMathematical and Statistical Techniques0302 clinical medicineDESIGNMedicine and Health Sciences2.1 Biological and endogenous factorsProspective StudiesMyocardial infarctionAetiologyCooperative Behaviorlcsh:ScienceProspective cohort studyRISKscreening and diagnosisMultidisciplinaryResearch Support Non-U.S. Gov'tSingle NucleotideGenomicsMiddle Aged3. Good healthMultidisciplinary SciencesDetectionCHROMOSOME 9P21Heart DiseaseResearch DesignCardiovascular DiseasesCARDIOVASCULAR-DISEASEPhysical SciencesScience & Technology - Other TopicsFemaleStatistics (Mathematics)4.2 Evaluation of markers and technologiesResearch ArticleCohort studymedicine.medical_specialtyGeneral Science & TechnologyCardiologySingle-nucleotide polymorphismResearch and Analysis MethodsGenome ComplexityPolymorphism Single Nucleotide03 medical and health sciencescoronary hearth diseaseInternal medicineMD MultidisciplinaryGenome-Wide Association StudiesGeneticsJournal ArticlemedicineHumansSNPGenetic Predisposition to DiseasePolymorphismStatistical MethodsHeart Disease - Coronary Heart DiseaseMETAANALYSISAgedGenetic associationta112Science & Technologybusiness.industryPreventionlcsh:RHuman GenomeBiology and Life SciencesComputational BiologyHuman GeneticsGenome AnalysisROTTERDAMmedicine.diseaseIntronsGood Health and Well Being030104 developmental biologyGenetic LociGenetics of Diseaselcsh:Q3111 BiomedicinebusinessMathematicsMeta-AnalysisGenome-Wide Association StudyPLOS ONE
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Frequency and Correlates of Subjective Memory Complaints in Parkinson’s Disease with and without Mild Cognitive Impairment: Data from the Parkinson’s…

2018

Subjective memory complaints (SMC) may represent the preclinical phase of mild cognitive impairment (MCI) due to Alzheimer's disease. Dementia/MCI have been described with a high prevalence in Parkinson's disease (PD), but whether SMC may predict the development of cognitive impairment has been barely explored. To evaluate the frequency and clinical correlates of isolated SMC (PD-SMC) or within the construct of MCI in subjects with PD, 147 PD patients from the PArkinson's disease COgnitive impairment Study (PACOS) were consecutively recruited for the study. This is a multicenter study involving two Movement Disorder Centers in south Italy. All subjects underwent comprehensive neuropsycholog…

Male0301 basic medicineParkinson's diseaseParkinson's diseaseDiseaseNeuropsychological TestsAnxietyLogistic regressionExecutive Function0302 clinical medicineSurveys and QuestionnairesAttentionCognitive impairmentAged 80 and overGeneral NeuroscienceNeuropsychologyParkinson DiseaseGeneral MedicineMiddle Agedmusculoskeletal systemPsychiatry and Mental healthClinical PsychologyVisual Perceptioncardiovascular systemAnxietySettore MED/26 - NeurologiaFemaleAnxiety; cognitive impairment; disability; motor impairment; Parkinson's disease; subjective complaints; Neuroscience (all); Clinical Psychology; Geriatrics and Gerontology; Psychiatry and Mental Healthmedicine.symptommedicine.medical_specialtyStatistics Nonparametricmotor impairment03 medical and health sciencesInternal medicinemental disordersmedicineHumansDementiaAgedRetrospective Studiescognitive impairmentSubjective complaints Cognitive Impairment Parkinson’s Disease Disability Motor Impairment AnxietyMemory DisordersNeuroscience (all)subjective complaintsbusiness.industrymedicine.diseaseCross-Sectional Studies030104 developmental biologydisabilityEtiologyGeriatrics and GerontologyCognition Disordersbusiness030217 neurology & neurosurgeryJournal of Alzheimer's Disease
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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

2016

International audience; Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after a multidisciplinary consultation and tedious diagnostic strategy. In the rare situations when neutropenia is identified and associated with intellectual disability (ID), there are few diagnostic hypotheses to test. This retrospective multicenter study reports on a clinically heterogeneous cohort of 10 unrelated patients with CN associated with ID and no molecular diagnosis prior to whole-exome sequencing (WES). WES provided a diagnostic yield o…

Male0301 basic medicinePediatricsmedicine.medical_specialtyNeutropeniaAdolescentNeonatal onsetNeutropenia03 medical and health sciences0302 clinical medicinecongenital neutropenia[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyIntellectual DisabilityIntellectual disabilityGeneticsmedicineCongenital Bone Marrow Failure SyndromesHumansExomeChildCongenital NeutropeniaGenetic Association StudiesGenetics (clinical)Exome sequencingRetrospective Studiesbusiness.industryHigh-Throughput Nucleotide SequencingInfantSyndromemedicine.disease3. Good healthPhenotype030104 developmental biologyCHD2Child Preschool030220 oncology & carcinogenesisCohortEtiologyFemalebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyBiomarkersAmerican Journal of Medical Genetics Part A
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Calorie Restriction in Adulthood Reduces Hepatic Disorders Induced by Transient Postnatal Overfeeding in Mice

2019

International audience; Impaired early nutrition influences the risk of developing metabolic disorders in later life. We observed that transient postnatal overfeeding (OF) in mice induces long-term hepatic alterations, characterized by microsteatosis, fibrosis associated with oxidative stress (OS), and stress-induced premature senescence (SIPS). In this study, we investigated whether such changes can be reversed by moderate calorie restriction (CR). C57BL/6 male mice pups were maintained during lactation in litters adjusted to nine pups in the normal feeding (NF) group and three pups in the transient postnatal OF group. At six months of age, adult mice from the NF and OF groups were randoml…

Male0301 basic medicineStress-induced premature senescencemedicine.disease_causeMicechemistry.chemical_compound0302 clinical medicineFibrosisLactationoxidative stressCellular Senescence2. Zero hungerNutrition and DieteticsbiologySuperoxideLiver DiseasesDOHaDCatalasemedicine.anatomical_structure030220 oncology & carcinogenesisstress-induced premature senescenceFemalelcsh:Nutrition. Foods and food supplymedicine.medical_specialtyAnimals; Animals Newborn; Caloric Restriction/methods; Catalase/metabolism; Cellular Senescence; Feeding Methods/adverse effects; Female; Liver/metabolism; Liver Diseases/diet therapy; Liver Diseases/etiology; Liver Diseases/physiopathology; Male; Mice; Mice Inbred C57BL; Oxidative Stress; Superoxide Dismutase/metabolism; DOHaD; developmental programming; liver; oxidative stress; reversibility; stress-induced premature senescenceCalorie restrictionlcsh:TX341-641liverArticleLipofuscinFeeding MethodsSuperoxide dismutase03 medical and health sciencesreversibility[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemdevelopmental programmingInternal medicinemedicineAnimalsCaloric RestrictionSuperoxide Dismutasebusiness.industrymedicine.diseaseMice Inbred C57BL030104 developmental biologyEndocrinologyAnimals Newbornchemistrybiology.proteinbusinessOxidative stressFood Science
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Pancreatic Protein Tyrosine Phosphatase 1B Deficiency Exacerbates Acute Pancreatitis in Mice

2016

Acute pancreatitis (AP) is a common and devastating gastrointestinal disorder that causes significant morbidity. The disease starts as local inflammation in the pancreas that may progress to systemic inflammation and complications. Protein tyrosine phosphatase 1B (PTP1B) is implicated in inflammatory signaling, but its significance in AP remains unclear. To investigate whether PTP1B may have a role in AP, we used pancreas PTP1B knockout (panc-PTP1B KO) mice and determined the effects of pancreatic PTP1B deficiency on cerulein- and arginine-induced acute pancreatitis. We report that PTP1B protein expression was increased in the early phase of AP in mice and rats. In addition, histological an…

Male0301 basic medicineWistarSystemic inflammationMedical and Health SciencesOral and gastrointestinalMicePathology2.1 Biological and endogenous factorsAetiologyNon-Receptor Type 1CancerMice KnockoutProtein Tyrosine Phosphatase Non-Receptor Type 1Pancreatitis Acute NecrotizingReverse Transcriptase Polymerase Chain ReactionRegular Articlemedicine.anatomical_structureAcute NecrotizingGastrointestinal disorderAcute pancreatitisTumor necrosis factor alphamedicine.symptomPancreashormones hormone substitutes and hormone antagonistsmedicine.medical_specialtyKnockoutInflammationPathology and Forensic MedicineProinflammatory cytokinePancreatic Cancer03 medical and health sciencesRare DiseasesInternal medicinemedicineAnimalsRats WistarAnimalbusiness.industrymedicine.diseaseRatsDisease Models Animal030104 developmental biologyEndocrinologyPancreatitisDisease ModelsPancreatitisProtein Tyrosine PhosphataseDigestive DiseasesbusinessThe American Journal of Pathology
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

2018

The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations c…

Male0301 basic medicinechromosome 9p23Medical and Health SciencesCorpus CallosumCohort StudiesMice2.1 Biological and endogenous factorsMegalencephalyAetiologyChildAgenesis of the corpus callosumGenetics (clinical)PediatricGenetics & HeredityCerebral CortexMice KnockoutGeneticsSingle Nucleotidenuclear factor IBiological SciencesNFIBNFIXdevelopmental delayMental HealthNFIBCodon NonsenseNFIAintellectual disabilityChild Preschoolchromosome 9p22.3NeurologicalSpeech delayFemalemedicine.symptomHaploinsufficiencyAdultAdolescentKnockoutIntellectual and Developmental Disabilities (IDD)[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsBiologymacrocephalyPolymorphism Single NucleotideArticleYoung Adult03 medical and health sciencesRare DiseasesBehavioral and Social ScienceGeneticsmedicinemegalencephalyAnimalsHumansPolymorphismCodonPreschoolNeurosciencesMacrocephalymedicine.diseaseBrain DisordershaploinsufficiencyNFI Transcription Factors030104 developmental biologyNonsense[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsbiology.proteinagenesis of the corpus callosumAmerican journal of human genetics
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