Search results for "Enrichment"

showing 10 items of 131 documents

The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders

2016

Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioinformatics level, with consequences including new requirements for interpretation of results, and for genetic counseling. We review some recent examples of the application of NGS technologies, with purely diagnostic and with both diagnostic and research aims, for establishing a rapid genetic diagnosis in LSDs. Given that NGS can be applied in a w…

0301 basic medicinelcsh:R5-920Emerging technologiesbusiness.industryEndocrinology Diabetes and MetabolismGenetic counselingLysosomal storage disordersComputational biology030105 genetics & heredityBioinformaticsTarget enrichmentMonogenic diseaseDNA sequencing03 medical and health sciences030104 developmental biologyPediatrics Perinatology and Child HealthMedicinelcsh:Medicine (General)businessGenetic diagnosisGenetics (clinical)Journal of Inborn Errors of Metabolism and Screening
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Structural changes induced by daily music listening in the recovering brain after middle cerebral artery stroke: a voxel-based morphometry study

2014

[Abstract.] Music is a highly complex and versatile stimulus for the brain that engages many temporal, frontal, parietal, cerebellar, and subcortical areas involved in auditory, cognitive, emotional, and motor processing. Regular musical activities have been shown to effectively enhance the structure and function of many brain areas, making music a potential tool also in neuro- logical rehabilitation. In our previous randomized controlled study, we found that listening to music on a daily basis can improve cognitive recovery and improve mood after an acute mid- dle cerebral artery stroke. Extending this study, a voxel-based morphometry (VBM) analysis utilizing cost function masking was perf…

6162 Cognitive sciencespeechAudiologyBehavioral NeuroscienceEARLY-ONSET STIMULATIONSPATIAL NORMALIZATIONArcuate fasciculusmagnetic resonance imagingCerebrovascular diseaseOriginal ResearchSUPPORTED THERAPYmagneettikuvausstrokehumanitiesPsychiatry and Mental healthNeuropsychology and Physiological Psychologymedicine.anatomical_structureNeurologyNeuroplasticitatta6131PsychologyMalalties cerebrovascularsmedicine.medical_specialtyCOST FUNCTION MASKING515 PsychologyneuroplasticitymusiikkiAuditory cortexbehavioral disciplines and activitiesLateralization of brain functionlcsh:RC321-571rehabilitationMagnetic resonance imagingWORKING-MEMORYImatges per ressonància magnèticamedicinevoxel-based morphometrymusicneuroplastisuuslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological PsychiatryAnterior cingulate cortexWorking memoryENRICHED-ENVIRONMENTARCUATE FASCICULUSVoxel-based morphometryta3124Superior frontal gyrusenvironmental enrichmentkuntoutusNeuroplasticity3111 BiomedicineVerbal memorySENSORIMOTOR CORTEXNeuroscienceMusicNeuroscienceMúsicaAUDITORY-CORTEXNEUROTROPHIC FACTOR
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Determination of free formaldehyde in cosmetics containing formaldehyde-releasing preservatives by reversed-phase dispersive liquid-liquid microextra…

2017

Abstract An analytical method for the determination of traces of formaldehyde in cosmetic products containing formaldehyde-releasing preservatives has been developed. The method is based on reversed-phase dispersive liquid–liquid microextraction (RP-DLLME), that allows the extraction of highly polar compounds, followed by liquid chromatography–ultraviolet/visible (LC–UV/vis) determination with post-column derivatization. The variables involved in the RP-DLLME process were studied to provide the best enrichment factors. Under the selected conditions, a mixture of 500 μL of acetonitrile (disperser solvent) and 50 μL of water (extraction solvent) was rapidly injected into 5 mL of toluene sampl…

AcetonitrilesLiquid Phase Microextraction02 engineering and technologyCosmetics01 natural sciencesBiochemistryChemistry Techniques AnalyticalAnalytical Chemistrychemistry.chemical_compoundLimit of DetectionFormaldehydeAcetonitrileDerivatizationDetection limitChromatographyElution010401 analytical chemistryOrganic ChemistryExtraction (chemistry)Preservatives PharmaceuticalReproducibility of ResultsWaterGeneral Medicine021001 nanoscience & nanotechnology0104 chemical sciencesSolventchemistryReagentSolvents0210 nano-technologyEnrichment factorChromatography LiquidTolueneJournal of chromatography. A
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Work–family conflict and enrichment from the perspective of psychosocial resources: Comparing Finnish healthcare workers by working schedules

2014

Abstract We examined work–family conflict (WFC) and work–family enrichment (WFE) by comparing Finnish nurses, working dayshifts (non-shiftworkers, n = 874) and non-dayshifts. The non-dayshift employees worked either two different dayshifts (2-shiftworkers, n = 490) or three different shifts including nightshifts (3-shiftworkers, n = 270). Specifically, we investigated whether different resources, i.e. job control, managers' work–family support, co-workers' work–family support, control at home, personal coping strategies, and schedule satisfaction, predicted differently WFC and WFE in these three groups. Results showed that lower managers' work–family support predicted higher WFC only among …

AdultEmploymentMaleScheduleTime FactorsHealth PersonnelJob controlWork–family conflictPersonnel Staffing and SchedulingPhysical Therapy Sports Therapy and RehabilitationHuman Factors and ErgonomicsJob SatisfactionConflict PsychologicalSurveys and QuestionnairesWork Schedule ToleranceHealth careHumansPsychologyFamilyfamily conflictSafety Risk Reliability and QualityEngineering (miscellaneous)ta515FinlandWork–family enrichmentbusiness.industryPerspective (graphical)shiftworkta3142Femalefamily enrichmentPsychologybusinessSocial psychologyPsychosocialApplied Ergonomics
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Nocturnal oxygen enrichment in sleep apnoea.

2000

We hypothesized that a modest oxygen enrichment, rather than 100% oxygen supplementation as used in previous trials, could result in improvement in ventilatory and cardiac symptoms, in patients with obstructive sleep apnoea (OSA), without jeopardizing the chemostimulant ventilatory drive. This hypothesis was tested in five male patients with OSA in a single-blinded trial consisting of one night spent sleeping in control room air (control night), followed by one night spent sleeping while exposed to air with a 9% enriched oxygen content (oxygen-enriched night). Oxygen enrichment resulted in a significant shift in the oxygen saturation profile towards values of ≥ 95% and to decrease desatura…

AdultMaleOxygen enrichmentmedicine.medical_treatmentchemistry.chemical_elementHemodynamics030204 cardiovascular system & hematologyNocturnalBiochemistryOxygen03 medical and health sciences0302 clinical medicineOxygen therapyMedicineHumansIn patientOxygen saturation (medicine)Sleep Apnea Obstructivebusiness.industryBiochemistry (medical)Cell BiologyGeneral MedicineMiddle AgedSleep in non-human animalsVentilationCircadian RhythmOxygenAffectchemistry030220 oncology & carcinogenesisAnesthesiabusinessThe Journal of international medical research
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci ass…

AgingMultifactorial InheritanceBLOODEpigenetic clock05 Environmental SciencesbiomarkkeritGenome-wide association studyQH426-470Epigenesis Genetic/dk/atira/pure/core/keywords/icep0302 clinical medicineBiomarkers of agingGWASBiology (General)AdiposityGenetics11832 Microbiology and virology0303 health sciences318 Medical biotechnologyDNA methylation1184 Genetics developmental biology physiologygenomiikkaDna Methylation ; Epigenetic Clock ; Gwasddc:DNA-metylaatioINSIGHTSC-Reactive ProteinepigenetiikkaDNA methylationMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingEducational StatusICEPGenetic MarkersPROVIDESSUSCEPTIBILITY LOCIBioinformaticsQH301-705.5GenomicsBiology03 medical and health sciencesNHLBI Trans-Omics for Precision Medicine (TOPMed) ConsortiumAGESDG 3 - Good Health and Well-beingPlasminogen Activator Inhibitor 1REGRESSIONGeneticsHumansEpigeneticsGeneMETAANALYSIS030304 developmental biologyGenome HumanResearchGenetics of DNA Methylation Consortium06 Biological SciencesLipid MetabolismHuman geneticsGenetic architectureImmunity InnateikääntyminenGenetic LociCpG Islands08 Information and Computing Sciences3111 BiomedicineENRICHMENTepigenetic clock030217 neurology & neurosurgeryBiomarkersGenome-Wide Association StudyGranulocytes
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Behavioral effects of different enriched environments in mice treated with the cholinergic agonist PNU-282987.

2013

Abstract Environmental enrichment is an experimental model in which rodents are housed in complex environments that favor lower levels of anxiety-like behavior. PNU-282987 (PNU) is a α7 nicotinic acetylcholine receptor agonist with beneficial effects on learning though its effects on anxiety are unclear. Our main aim was to carry out a study of its effects in NMRI ( n  = 96) mice reared in different environments: environmental enrichment (EE), Marlau™ cages (MC) and standard environment (SE). After a 4-month period, mice received acute treatment of PNU (2.5, 5 and 10 mg/kg) and were evaluated in the elevated plus-maze (EPM) and hole-board (HB). In the EPM, both EE and MC reared mice showed …

AgonistMalemedicine.medical_specialtyElevated plus mazealpha7 Nicotinic Acetylcholine Receptormedicine.drug_classAnxietyEnvironmentMotor ActivityDevelopmental psychologyBehavioral NeuroscienceBridged Bicyclo CompoundsMiceα7 nicotinic acetylcholine receptorInternal medicinemedicineAnimalsNicotinic AgonistsBeneficial effectsEnvironmental enrichmentBehavior AnimalExperimental modelGeneral MedicineNicotinic agonistEndocrinologyBenzamidesExploratory BehaviorCholinergicAnimal Science and ZoologyPsychologyInjections IntraperitonealBehavioural processes
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Environmental applications (air)

2020

Abstract The use of solid sorbent-based devices for the monitoring of contaminants in the air is a widespread trend due to its versatility, physicochemical stability, and high enrichment factor. Active and passive sampling strategies have been developed for air monitoring using different materials, such as carbon-based organic polymers and inorganic sorbents. It has been updated in the literature regarding the most recent applications of the use of solid sorbent-based samplers for the monitoring of air in different sites such as rural, urban, industrialized, and indoor areas, including workplace environments for the evaluation of occupational exposure risks.

Air monitoringSorbentWaste managementEnvironmental scienceOccupational exposureContaminationEnrichment factorPassive sampling
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Voltammetric Analysis of Platinum in Environmental Matrices

2014

This article will summarize measurement data for Pt in different environmental samples obtained by the authors using a recently developed approach by voltammetric analysis. A fast accumulation of platinum and rhodium in the environmental and biological matrices has been observed in the last few years and concern has arisen about potential environmental and health risks. Voltammetry was used for the determination of Pt and Rh in airborne particulate collected in Palermo, Italy. Possible interferences by other environmental metals have also been evaluated. All samples show concentrations of Pt and Rh above average upper crust values. The Pt and Rh concentrations in particulate samples collect…

Air pollutionchemistry.chemical_elementParticulatesmedicine.disease_causeSettore CHIM/12 - Chimica Dell'Ambiente E Dei Beni Culturalilaw.inventionRhodiumchemistrylawEnvironmental chemistryCatalytic convertermedicineEnvironmental scienceSettore CHIM/01 - Chimica AnaliticaVoltammetric Analysis Platinum EnvironmentalDifferential pulse voltammetryPlatinumEnrichment factorVoltammetry
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Environmental enrichment reverts the effects of continuous or intermittent perinatal alcohol exposure. Focus on alcohol vulnerability and affectivity…

2015

Alcohol consumption during perinatal periods is common, despite the warning of adverse effects on the foetal development. In female rats, the intermittent pattern of alcohol consumption is responsible for higher drinking levels and more profound disruption of maternal care than traditional continuous free-access paradigm, which can have persistent effects on the offspring. The environmental enrichment, a powerful form of experience-dependent plasticity that allows high cognitive, motor and sensory stimulations, is helpful for recovering from different neurological pathologies. Thus, this study aimed at exploring the effects of environmental enrichment on alcohol vulnerability and affective …

Alcohol perinatal exposure offspring vulnerability affectivity environmental enrichment
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