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showing 10 items of 14051 documents

CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.

2018

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Hypovitaminosis D seems to contribute to MS susceptibility as both an environmental and a genetic risk factor. The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. We performed a nested case-control study on patients with multiple sclerosis and healthy controls. Serum 25(OH)D3 levels and genotyping of CYP27A1, CYP24A1, and RXR-α -SNPs were investigated both in MS patients and in healthy controls. Serum 25(OH)D3 levels were measured by a high-performance liquid chromatograp…

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisRXRSingle-nucleotide polymorphismPilot ProjectsPolymorphism Single Nucleotide03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicineGenotypemedicineVitamin D and neurologyHumansVitamin DAlleleVitamin D3 24-HydroxylaseGenotypingAutoimmune disease25-Hydroxyvitamin D 2Retinoid X Receptor alphabusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseMinor allele frequencyCYP24A1030104 developmental biologyEndocrinologyCase-Control StudiesCYP27A1Cholestanetriol 26-MonooxygenaseFemalebusiness030217 neurology & neurosurgeryJournal of molecular neuroscience : MN
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New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

2017

Abstract Introduction The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This ‘classical’ phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. Methods Data on…

0301 basic medicineAdultMalemedicine.medical_specialtyPediatricsAtaxiaMovement disordersBiologyWhite People03 medical and health sciencesNeurological manifestation0302 clinical medicinePhenotypic variabilitymedicineAceruloplasminemiaHumansCognitive declineAceruloplasminemiaPsychiatryDystoniaCerebellar ataxiaParkinsonismCeruloplasminChoreaNeurodegenerative DiseasesMiddle Agedmedicine.diseaseIron Metabolism DisordersPedigree030104 developmental biologyPsychiatric changesPhenotypeNeurologyFemaleNeurology (clinical)Geriatrics and Gerontologymedicine.symptomNervous System DiseasesSettore M-EDF/01 - Metodi E Didattiche Delle Attivita' Motorie030217 neurology & neurosurgeryFollow-Up Studies
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Preliminary evidence of reductive stress in human cytotoxic T cells following exercise.

2018

This study investigated immunophenotypic differences in intracellular thiol redox state of peripheral blood mononuclear cells (PBMCs) isolated from trained [ n = 9, means ± SD: age 28 ± 5 yr; (body mass index) BMI 23.2 ± 2.6 kg/m2; V̇o2max (maximal oxygen intake)56.9 ± 6.1 ml·kg−1·min−1] and recreationally active (RA, n = 11, means ± SD: age 27 ± 6 yr; BMI 24.2 ± 3.7 kg/m2; V̇o2max 45.1 ± 6.4 ml·kg−1·min−1) participants before and after a maximal aerobic exercise tolerance test. Blood samples were taken before (Pre), during (sample acquired at 70% maximum heart rate), immediately after (Post + 0), and 15 min postexercise (Post + 15). PBMCs were isolated, and reduced thiol analysis [fluores…

0301 basic medicineAdultMalemedicine.medical_specialtyPhysiologyLymphocytePopulationPeripheral blood mononuclear cellRC120003 medical and health sciencesLeukocyte Count0302 clinical medicineOxygen ConsumptionStress PhysiologicalPhysiology (medical)Internal medicinemedicineLeukocytesAerobic exerciseCytotoxic T cellHumanseducationExercisechemistry.chemical_classificationeducation.field_of_studyChemistryFlow Cytometry030104 developmental biologyEndocrinologymedicine.anatomical_structureQR180ThiolExercise TestLeukocytes MononuclearFemaleThiol redox030217 neurology & neurosurgeryCD8T-Lymphocytes CytotoxicJournal of applied physiology (Bethesda, Md. : 1985)
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Having your cake and eating it: Faster responses with reduced muscular activation while learning a temporal interval

2019

International audience; We examined how motor responses to a stimulus evolve as individuals learn to predict when a stimulus will appear, by comparing responses to a regular versus irregular stimulus train. The study was conducted with two groups of adults — one responded to the regular appearance of a visual stimulus every 3 s (R group) and the second responded to the irregular presentation of the same stimulus (IR group) at intervals varying between 2 and 4 s. Participants responded to the appearance of the stimulus by bending over to press a button that was slightly out of reach. This whole body reach requires muscular activation at the ankles. Over the course of 50 consecutive responses…

0301 basic medicineAdultMalemedicine.medical_specialtyStimulus (physiology)AudiologyElectromyographs03 medical and health sciences0302 clinical medicineReaction TimeMedicineHumansLearningMotor activityPostural BalanceSoleus musclebusiness.industryElectromyographyGeneral Neuroscience[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/NeuroscienceAntagonistAnterior tibialisTibialis Muscle030104 developmental biologymedicine.anatomical_structureFemaleAnklebusiness030217 neurology & neurosurgeryPhotic StimulationPsychomotor Performance
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Does the educational level of women influence hand grip and pinch strength in carpal tunnel syndrome?

2020

Abstract Background Grip and pinch strength are relevant functional variables for various activities of daily life and are related to the quality of life of patients with carpal tunnel syndrome (CTS). Objective The main aim was to analyze the relationship between grip and pinch strength and the educational level in women with CTS. Study design Cross-sectional study. Methods Thirty-one female patients with CTS awaiting surgery were assigned to the low education group if they only had primary education level (completed or not) and the high education group for those having higher education level. The assessments included: grip strength, pinch strength, Visual Analogue Scale, Quick DASH Questio…

0301 basic medicineAdultMalemedicine.medical_specialtyVisual analogue scalePinch Strength03 medical and health sciencesGrip strength0302 clinical medicineHand strengthSurveys and QuestionnairesMedicineHumansPinch StrengthQuick dashCarpal tunnel syndromeLife StyleAgedPain MeasurementHand Strengthbusiness.industryCatastrophizationSignificant differenceGeneral MedicineMiddle Agedmedicine.diseaseCarpal Tunnel Syndromebody regions030104 developmental biologyCross-Sectional StudiesTreatment OutcomePhysical therapyQuality of LifeEducational StatusPain catastrophizingFemalebusiness030217 neurology & neurosurgeryMedical hypotheses
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The Gut Metagenome Changes in Parallel to Waist Circumference, Brain Iron Deposition, and Cognitive Function.

2017

Context Microbiota perturbations seem to exert modulatory effects on emotional behavior, stress-, and pain-modulation systems in adult animals; however, limited information is available in humans. Objective To study potential relationships among the gut metagenome, brain microstructure, and cognitive performance in middle-aged, apparently healthy, obese and nonobese subjects after weight changes. Design This is a longitudinal study over a 2-year period. Setting A tertiary public hospital. Patients or other participants Thirty-five (18 obese) apparently healthy subjects. Intervention(s) Diet counseling was provided to all subjects. Obese subjects were followed every 6 months. Main outcome me…

0301 basic medicineAdultMalemedicine.medical_specialtyWaistEndocrinology Diabetes and MetabolismIronClinical BiochemistryHippocampusFirmicutesContext (language use)BiologyNeuropsychological TestsBiochemistryAmygdala03 medical and health sciences0302 clinical medicineEndocrinologyCognitionInternal medicinemedicineImage Processing Computer-AssistedHumansEffects of sleep deprivation on cognitive performanceLongitudinal StudiesObesityBacteroidetesBiochemistry (medical)Case-control studyBrainCognitionMiddle AgedMagnetic Resonance ImagingGastrointestinal Microbiome030104 developmental biologyEndocrinologymedicine.anatomical_structureCross-Sectional StudiesCase-Control StudiesMetagenomeFemaleWaist CircumferenceBody mass index030217 neurology & neurosurgeryTenericutesThe Journal of clinical endocrinology and metabolism
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Role of Haptoglobin as a Marker of Muscular Improvement in Patients with Multiple Sclerosis after Administration of Epigallocatechin Gallate and Incr…

2021

Here, we report on the role of haptoglobin (Hp), whose expression depends on the synthesis of interleukin 6 (IL-6), related to the pathogenesis of multiple sclerosis (MS), as a possible marker of muscle improvement achieved after treatment with the polyphenol epigallocatechin gallate (EGCG) and an increase in the ketone body beta-hydroxybutyrate (BHB) in the blood. After 4 months of intervention with 27 MS patients, we observed that Hp does not significantly increase, alongside a significant decrease in IL-6 and a significant increase in muscle percentage. At the same time, Hp synthesis is considerably and positively correlated with IL-6 both before and after treatment

0301 basic medicineAdultMalemedicine.medical_specialtyepigallocatechin gallateMultiple Sclerosisbeta-hydroxybutyratemuscleinterleukin 6Pilot ProjectsEpigallocatechin gallateMicrobiologyBiochemistryCatechinArticlePathogenesis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBeta hydroxybutyrateInternal medicinemedicineHumansIn patientInterleukin 6Muscle SkeletalMolecular Biologybiology3-Hydroxybutyric AcidHaptoglobinsbusiness.industryInterleukin-6Multiple sclerosisHaptoglobinfood and beveragesMiddle Agedmedicine.diseaseQR1-502haptoglobin030104 developmental biologyEndocrinologychemistrybiology.proteinKetone bodiesFemalebusiness030217 neurology & neurosurgeryBiomarkersBiomolecules
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High-definition transcranial direct current stimulation to both primary motor cortices improves unimanual and bimanual dexterity.

2017

While most research on brain stimulation with transcranial direct current stimulation (tDCS) targets unimanual motor tasks, little is known about its effects on bimanual motor performance. This study aims to investigate the effects of tDCS on unimanual as well as bimanual motor dexterity. We examined the effects of bihemispheric anodal high-definition tDCS (HD-atDCS) on both primary motor cortices (M1) applied concurrent with unimanual and bimanual motor training. We then measured the effects with the Purdue Pegboard Test (PPT) and compared them to a sham stimulation. Between a pretest and posttest, 31 healthy, right-handed participants practiced the PPT on three consecutive days and receiv…

0301 basic medicineAdultMalemedicine.medical_specialtymedicine.medical_treatmentStimulationTranscranial Direct Current StimulationFunctional Laterality03 medical and health sciencesYoung Adult0302 clinical medicinePhysical medicine and rehabilitationmedicinePurdue Pegboard TestHumansTranscranial direct-current stimulationGeneral NeuroscienceMotor CortexRepeated measures designEvoked Potentials MotorHandElectric StimulationImproved performance030104 developmental biologyMotor SkillsBrain stimulationHigh definitionFemaleAnalysis of variancePsychology030217 neurology & neurosurgeryPsychomotor PerformanceCognitive psychologyNeuroscience letters
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Heart rate acceleration at relative workloads during treadmill and overground running for tracking exercise performance during functional overreaching

2020

AbstractMaximal rate of heart rate (HR) increase (rHRI) as a measure of HR acceleration during the transition from rest to exercise, or during an increase in workload, tracks exercise performance. rHRI assessed at relative rather than absolute workloads may track performance better, and a field test would increase applicability. This study therefore aimed to evaluate the sensitivity of rHRI assessed at individualised relative workloads during treadmill and overground running for tracking exercise performance. Treadmill running performance (5 km time trial; 5TTT) and rHRI were assessed in 11 male runners following 1 week of light training (LT), 2 weeks of heavy training (HT) and a 10-day tap…

0301 basic medicineAdultMalemedicine.medical_specialtysykekestävyysharjoittelulcsh:MedicineField testsWorkloadAthletic PerformanceArticleRunning03 medical and health sciences0302 clinical medicineTime trialTreadmill runningHeart RateInternal medicineylikuntoExercise performanceHeart rateMedicineHumansTreadmilllcsh:ScienceMultidisciplinaryExercise Tolerancebusiness.industrylcsh:Rautonomic nervous systemheart rate variabilitytype I syndactylyMiddle AgedOverreachingCardiovascular biologyharjoitusvasteCirculation030104 developmental biologyHeart rate accelerationCardiologyExercise Testlcsh:Qbusiness030217 neurology & neurosurgery
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Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

0301 basic medicineAdultMalep.R227Pnovel moutationAdolescentc.639 + 5G > TMutation MissenseBiologyLeft ventricular hypertrophy03 medical and health sciencesExonYoung Adult0302 clinical medicineSettore BIO/13 - Biologia ApplicataGeneticsmedicinefabry; novel moutationMissense mutationAlpha-galactosidase AHumansPoint MutationCornea verticillataGenetic Predisposition to DiseaseChildfabryGLA genec.846_847delTCGeneticsAlpha-galactosidasePoint mutationFabry disease; Alpha-galactosidase A; c.846_847delTC; p.E341X; p.C382X; p.R227P; c.639 + 5G > Tp.E341XGeneral MedicineMiddle Agedmedicine.diseaseMolecular biologyFabry diseaseStop codon030104 developmental biologyp.C382Xalpha-Galactosidasebiology.proteinFabry DiseaseFemalemedicine.symptom030217 neurology & neurosurgery
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