Search results for "Repo"

showing 10 items of 2753 documents

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient

2020

Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…

MaleHypotonia - developmental delayPediatricsmedicine.medical_specialtyPopulationEncephalopathyCytochrome-c Oxidase DeficiencyCase ReportHypotoniaCompound heterozygosityDiagnosis Differential03 medical and health sciences0302 clinical medicineWhole-genome-sequencingHypotonia; developmental delay; Mitochondrial disease; Whole-exome sequencing; CCT5030225 pediatricsmedicineMissense mutationHumansGlobal developmental delayeducationeducation.field_of_studyComparative Genomic Hybridizationbusiness.industrylcsh:RJ1-570Infant Newbornlcsh:Pediatricsmedicine.diseaseHypotoniaHypoplasiaMitochondrial diseaseNeoplasm Proteinsdevelopmental delayNeonatal hypotoniaPhenotypeItalyWhole-exome sequencingMutationLSFCmedicine.symptomLeigh DiseaseCCT5business030217 neurology & neurosurgeryInfant Premature
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The dapagliflozin and prevention of adverse outcomes in chronic kidney disease (DAPA-CKD) trial: baseline characteristics

2020

Abstract Background The Dapagliflozin and Prevention of Adverse outcomes in Chronic Kidney Disease (DAPA-CKD; NCT03036150) trial was designed to assess the effect of the sodium–glucose co-transporter 2 (SGLT2) inhibitor dapagliflozin on kidney and cardiovascular events in participants with CKD with and without type 2 diabetes (T2D). This analysis reports the baseline characteristics of those recruited, comparing them with those enrolled in other trials. Methods In DAPA-CKD, 4304 participants with a urinary albumin:creatinine ratio (UACR) ≥200 mg/g and estimated glomerular filtration rate (eGFR) between 25 and 75 mL/min/1.73 m2 were randomized to dapagliflozin 10 mg once daily or placebo. Me…

MaleIGA NEPHROPATHYRATIONALEPROGRESSIONType 2 diabetesurologic and male genital diseasesDiabetic nephropathychemistry.chemical_compoundGlucosidesDESIGNMedicineFAILUREDiabetic NephropathiesDapagliflozinrandomized controlled clinical trialPrognosisfemale genital diseases and pregnancy complications//purl.org/pe-repo/ocde/ford#3.02.13 [https]Cardiovascular DiseasesNephrologyFemalesodium–glucose co-transporter-2 inhibitormedicine.symptomBENAZEPRILGlomerular Filtration Ratemedicine.medical_specialtyFinerenoneINHIBITIONNephropathy//purl.org/pe-repo/ocde/ford#3.02.20 [https]Double-Blind MethodClinical ResearchInternal medicineDiabetes mellitusEND-POINTSHumansBenzhydryl CompoundsRenal Insufficiency ChronicAcademicSubjects/MED00340Sodium-Glucose Transporter 2 InhibitorsAgedTransplantationDECLINEbusiness.industrysodium-glucose co-transporter-2 inhibitordapagliflozinmedicine.diseaseEFFICACYEditor's ChoiceDiabetes Mellitus Type 2chemistryAlbuminuriaORIGINAL ARTICLESbusinesschronic kidney diseaseKidney disease
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Cumulative Prognostic Score Predicting Mortality in Patients Older Than 80 Years Admitted to the ICU

2019

OBJECTIVES To develop a scoring system model that predicts mortality within 30 days of admission of patients older than 80 years admitted to intensive care units (ICUs). DESIGN Prospective cohort study. SETTING A total of 306 ICUs from 24 European countries. PARTICIPANTS Older adults admitted to European ICUs (N = 3730; median age = 84 years [interquartile range = 81‐87 y]; 51.8% male). MEASUREMENTS Overall, 24 variables available during ICU admission were included as potential predictive variables. Multivariable logistic regression was used to identify independent predictors of 30‐day mortality. Model sensitivity, specificity, and accuracy were evaluated with receiver operating characteris…

MaleINTENSIVE-CARE-UNITOrgan Dysfunction Scoresmedicine.medical_treatmentPrognosis.MedizinDECISION-MAKINGLogistic regressionlaw.inventionolder adult0302 clinical medicinePHYSICIANSInterquartile rangelaw80 and overMedicine and Health Sciences030212 general & internal medicineHospital MortalityProspective StudiesProspective cohort studyolder adultsAged 80 and overpredictddc:617Respiration[SDV.MHEP.GEG]Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontologyBrief ReportPrognosisIntensive care unitADMISSION3. Good healthEuropeHospitalizationIntensive Care UnitsBrier scoreOlder adultsArtificialFemaleprognosimedicine.medical_specialtycritical care; model; older adults; predict; prognosis; Aged 80 and over; Europe; Female; Hospital Mortality; Hospitalization; Humans; Intensive Care Units; Male; Prospective Studies; Respiration Artificial; Organ Dysfunction Scores; Prognosis03 medical and health sciencesIntensive caremedicineJournal ArticleHumansILL ELDERLY-PATIENTSRenal replacement therapyAgedmodelReceiver operating characteristicbusiness.industry030208 emergency & critical care medicineRespiration Artificialcritical careEmergency medicine[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieBrief ReportsprognosisGeriatrics and Gerontologybusiness
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Differential regulation of interleukin-10 production by genetic and environmental factors – a twin study

2002

Interleukin-10 (IL-10) has a critical role in the regulation of immune responses. The relative contribution of genetic and environmental factors to IL-10 production is under debate. We performed a twin study in 246 monozygotic and dizygotic twins to assess the heritability of IL-10 production after LPS stimulation in whole blood. In addition, the influence of promoter single nucleotide polymorphisms (-1082, -819 and -592) on transcriptional activity and their binding to nuclear factors was studied in luciferase reporter gene and electrophoretic mobility shift assays. IL-10 production showed a genetic determination with a heritability of 0.5. Decreasing body mass index (BMI), smoking and fem…

MaleImmunologyElectrophoretic Mobility Shift AssaySingle-nucleotide polymorphismIn Vitro TechniquesBiologyPolymorphism Single NucleotideMonocytesCell LineGenes ReporterPolymorphism (computer science)GeneticsHumansAllelePromoter Regions GeneticTranscription factorGenetics (clinical)GeneticsBinding SitesHaplotypeDNAHeritabilityTwin studyInterleukin-10Interleukin 10Gene Expression RegulationTwin Studies as TopicFemaleTranscription FactorsGenes & Immunity
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Sedentary behavior and perceived stress among adults aged ≥50 years in six low- and middle-income countries.

2018

Background:\ud Sedentary behavior and perceived stress are both negatively associated with physical and mental health. Little is known about the association between sedentary behavior and \ud perceived stress, and there is a particular paucity of data on people aged ≥50 years from low- and middle-income countries (LMICs). \ud Methods:\ud We analyzed cross-sectional, community-based data from 34,129 individuals aged ≥50 years [mean age 62.4 (SD=16.0) years, 52% females] from six LMICs. Perceived stress was assessed using the Perceived Stress Scale and time spent sedentary per day was self-reported. Multivariable linear regression analyses were conducted, adjusting for important socio economi…

MaleInternationalityPerceived Stress ScaleGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineNegatively associatedStress (linguistics)Sedentary behavior perceived stress health mental health low- and middleincome countries physical activityMedicineHumans030212 general & internal medicineDeveloping CountriesAgedLow- and middle-income countriesMultivariable linear regressionbusiness.industryPhysical activityConfoundingObstetrics and GynecologyPerceived stressSedentary behaviorMiddle AgedMental healthSedentary behaviorSocioeconomic FactorsLow and middle income countriesHealthRegression AnalysisMental healthFemalePerceptionSelf ReportSedentary Behaviorbusiness030217 neurology & neurosurgeryStress PsychologicalDemographyMaturitas
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Power of lower extremities is most important determinant of agility among physically inactive or active adult people

2018

OBJECTIVE The purpose of this cross-sectional study was to determine the relationships between agility, running speed, jumping height and length, body mass index, self-report pain in back and in lower extremities, personal factors as self-report health and fitness, and leisure time physical activity in physically inactive or active adult people. METHODS Altogether, 233 healthy subjects, 149 women (43.0 ± 7.3 years) and 84 men (44.0 ± 7.7 years), participated into study. Outcome measures were described in the International Classification of Functioning, Disability and Health domains. RESULTS Multiple regression analysis showed that jumping length explained 24.6% and 15.3% of the variance ass…

MaleLeisure timeperceptionmedicine.disease_causeBody Mass IndexRunning0302 clinical medicineJumpingInternational Classification of Functioning Disability and Health030212 general & internal medicineta315iakttagelsermedia_commonmuscle powerbeslutsfattandeta3141CognitionRegression analysisMiddle AgedTest (assessment)Lower ExtremityFemalePsychologyAdultkognitiiviset taidotmedicine.medical_specialtymedia_common.quotation_subjectPhysical Therapy Sports Therapy and RehabilitationAthletic Performancedecision makingagility03 medical and health sciencesPhysical medicine and rehabilitationPerceptionmedicineHumansmotoriset taidotAgedmuskelstyrkakehonhallinta030229 sport sciencesCross-Sectional StudiesPhysical FitnessExercise Testmuscle strengthmobilitetSelf ReportSedentary BehaviorBody mass indexlihasvoimaPhysiotherapy Research International
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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study …

2020

Publisher's version (útgefin grein)

MaleLife expectancyDisability-Adjusted Life YearDiseasesDiseasecommunicable diseasesystematic analysisGlobal Burden of Disease0302 clinical medicine80 and overMedicine10. No inequalityChild11 Medical and Health SciencesinjuriesAged 80 and overeducation.field_of_studySjúkdómarDEMENTIAFALLSGeneral MedicineForvarnir3. Good healthChild PreschoolHumanGBDPopulation health03 medical and health sciencesSDG 3 - Good Health and Well-beingHumansGlobal Burden of Disease StudyeducationAgedSpatial AnalysisGlobal burdenDisabilityPreventionDISABILITYInfantSpatial AnalysiMortality rateGlobal Burden of Disease Diseases Injuries Systematic analysisPREVENTIONYears of potential life lostRisk factorsDisease studyGBD; communicable disease; injuries;ITC-ISI-JOURNAL-ARTICLELife expectancyRISK-FACTORSClinical MedicineRADemographyFötlunDánartíðniÁhættuþættir030204 cardiovascular system & hematologyRisk FactorsCause of DeathGlobal health030212 general & internal medicineMortality ratePopulation health1. No povertyDisability-Adjusted Life YearsPublic Health Global Health Social Medicine and EpidemiologyMiddle Aged3142 Public health care science environmental and occupational healthAdolescent; Adult; Age Distribution; Aged; Aged 80 and over; Cause of Death; Child; Child Preschool; Disability-Adjusted Life Years; Female; Global Burden of Disease; Humans; Infant; Infant Newborn; Male; Middle Aged; Risk Factors; Spatial Analysis; Young Adult/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingLýðheilsaFemaleCLINICAL-TRIALSAdultAdolescentPopulationGlobal healthSettore MED/01 - Statistica MedicadiseasesITC-HYBRIDYoung AdultHeilbrigðisvísindiAge DistributionGeneral & Internal MedicineMortalityPreschoolDisease burdenbusiness.industryRisk FactorKlinisk medicinInfant NewbornNewborn//purl.org/pe-repo/ocde/ford#3.02.00 [https]Folkhälsovetenskap global hälsa socialmedicin och epidemiologiÁverkarSystematic analysisNAbusiness
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Psychometric Properties of Spanish Version Student Utrecht Work Engagement Scale (UWES–S–9) in High-school Students

2019

AbstractThe Utrecht Work Engagement Scale (UWES) is a self-report instrument widely used, both in the original and its abbreviated version of nine items, to assess the work -UWES, UWES–9– and academic engagement -UWES-S, UWES–S–9–. The present study examines factor structure of the UWES–S–9 using confirmatory factor analysis (CFA), its convergent validity and invariance across sex and age groups in a sample of 626 Spanish high school students. The results support an unidimensional conceptualization of engagement (S-Bχ2/df = 5.29; CFI = .96; NNFI = .94; RMSEA = .083; IFI = .96; AIC = 82.21; BIC = 267.38), revealed an essentially invariant structure of the UWES–S–9 across the sex, ΔS-Bχ2(Δ6) …

MaleLinguistics and LanguageAdolescentPsychometrics050109 social psychologyStudent engagementPersonal SatisfactionFactor structureLanguage and LinguisticsStructural equation modelingAge groups0502 economics and businessHumans0501 psychology and cognitive sciencesStudentsGeneral PsychologyOptimismAcademic SuccessWork engagement05 social sciencesReproducibility of ResultsSpanish versionWork EngagementConfirmatory factor analysisConvergent validityFemaleSelf ReportFactor Analysis StatisticalPsychologyStress Psychological050203 business & managementClinical psychologyThe Spanish Journal of Psychology
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The SF-8 Spanish Version for Health-Related Quality of Life Assessment: Psychometric Study with IRT and CFA Models.

2018

AbstractThe aim of current research is to analyze the psychometric properties of the Spanish version of the SF–8, overcoming previous shortcomings. A double line of analyses was used: competitivestructural equations modelsto establish factorial validity, andItem Response theoryto analyze item psychometric characteristics and information. 593 people aged 60 years or older, attending long life learning programs at the University were surveyed. Their age ranged from 60 to 92 years old. 67.6% were women. The survey included scales on personality dimensions, attitudes, perceptions, and behaviors related to aging. Competitive confirmatory models pointed out two-factors (physical and mental health…

MaleLinguistics and LanguagePsychometricsmedia_common.quotation_subjectLogistic regressionLanguage and LinguisticsStructural equation modeling03 medical and health sciences0302 clinical medicinePerceptionItem response theoryPersonalityHumans030212 general & internal medicinePatient Reported Outcome MeasuresGeneral Psychologymedia_commonAgedAged 80 and over030505 public healthModels StatisticalSpanish versionMiddle AgedMental healthTest (assessment)SpainQuality of LifeFemale0305 other medical sciencePsychologyClinical psychologyThe Spanish journal of psychology
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Prepositions and pronouns in connected discourse of individuals with aphasia

2018

The lexical-grammatical divide has been a widely addressed topic in aphasia. Speech parts are generally classified as either belonging to a lexical or a grammatical category based on the frequency of acquisition of new members in their paradigms (open vs. closed classes), thus neglecting heterogeneity within categories. Such an approach has led to contradictory findings. First, prepositions form closed classes, but are classically taken as lexical items. Pronouns, also belonging to a closed class, are analyzed as grammatical elements. Second, both within the group of prepositions and pronouns, forms with different syntactic and semantic properties co-exist. Following the theoretical notions…

MaleLinguistics and LanguageSpeech outputmedia_common.quotation_subjectGrammatical categorySpanishVocabulary050105 experimental psychologyLanguage and LinguisticsLexical item030507 speech-language pathology & audiology03 medical and health sciencesSpeech and HearingAphasiaAphasiamedicineHumans0501 psychology and cognitive scienceslexical-grammatical divideAgedmedia_commonGrammar05 social sciencesSemantic propertyClosed classprepositionsLinguisticsSemanticspronounsSpainFemalemedicine.symptom0305 other medical sciencePsychologyClinical Linguistics & Phonetics
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