Search results for "Libri"

showing 10 items of 1189 documents

Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study

2004

Several polymorphisms in the APOA5 gene have been associated with increased plasma triglyceride (TG) concentrations. However, associations between APOA5 and lipoprotein subclasses, remnant-like particles (RLPs), and cardiovascular disease (CVD) risk have been less explored. We investigated associations of five APOA5 single-nucleotide polymorphisms (SNPs; −1131T>C, −3A>G, 56C>G IVS3+ 476G>A, and 1259T>C) with lipoprotein subfractions and CVD risk in 1,129 men and 1,262 women participating in the Framingham Heart Study. Except for the 56C>G SNP, the other SNPs were in significant linkage disequilibria, resulting in three haplotypes (11111, 22122, and 11211) representing 98% of the population.…

AdultMaleRiskhaplotypemedicine.medical_specialtyGenotypeLipoproteinsPopulationCoronary DiseaseSingle-nucleotide polymorphismQD415-436BiologyCardiovascular SystemPolymorphism Single NucleotideBiochemistryLinkage Disequilibriumchemistry.chemical_compoundSex FactorsEndocrinologyFramingham Heart StudyInternal medicineremnant-like particlesmedicineHumansSNPAlleleeducationAllelesApolipoproteins ATriglyceridesAgededucation.field_of_studyPolymorphism GeneticCholesterolHaplotypeGenetic VariationCell BiologyMiddle Agedcardiovascular disease riskApolipoproteinsCholesterolEndocrinologyHaplotypeschemistryApolipoprotein A-VCardiovascular DiseasesFemaleLipoproteinJournal of Lipid Research
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The HLA locus and multiple sclerosis in Sicily

2005

The authors report the analysis of HLA-class II allelic heterogeneity in a well characterized multiple sclerosis (MS) Sicilian dataset. Family-based association analysis revealed evidence for excess transmission to affected individuals for alleles HLA-DRB1*1501, DRB1*04, and DQB1*0302. When analyzed as haplotypes, the authors observed excess transmission for the DRB1*0400-DQB1*0302 haplotype. Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affecteds living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations.

AdultMaleRiskmusculoskeletal diseasesMultiple SclerosisAdolescentGenes MHC Class IILocus (genetics)Human leukocyte antigenBiologySeverity of Illness IndexLinkage DisequilibriumCohort StudiesDisability EvaluationGene Frequencyimmune system diseasesMultiple Sclerosis/epidemiologyPrevalencemedicineHumansGenetic Predisposition to DiseaseAge of OnsetAlleleskin and connective tissue diseasesSicilyAllelesGenetic associationGeneticsHLA-D AntigensIncidenceMultiple sclerosisHaplotypeGene Poolmedicine.diseaselanguage.human_languageSettore BIO/18 - GeneticaHaplotypeslanguageFemaleAllelic heterogeneitySettore MED/26 - NeurologiaNeurology (clinical)Sicilian
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Obstructive sleep apnoea syndrome (OSAS): effects on the vestibular system

2010

SUMMARY Aim of the present study was to evaluate the effects of obstructive sleep apnoea syndrome (OSAS) on the peripheral and central vestibular system, by means of a case series prospective study at the University referral centre of Otolaryngology Head and Neck Surgery; 45 consecutive patients suffering from OSAS were compared with a control group of 30 volunteer subjects selected from among the department employees. Severity of the disease was evaluated by means of cardio-respiratory function monitoring during sleep; the apnoea-hypopnoea index was calculated. Both groups underwent: 1) head and neck examination; 2) fibre-optic examination; 3) pure tone audiometry; 4) evaluation of eye mov…

AdultMaleSleep Apnea ObstructiveOSASMiddle AgedDizzinessVestibologyImbalanceYoung AdultVestibular DiseasesVertigoHumansDisequilibriumFemaleProspective StudiesActa Otorhinolaryngologica Italica
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An ensemble analysis of electromyographic activity during whole body pointing with the use of support vector machines.

2011

Import JabRef | WosArea Life Sciences and Biomedicine - Other Topics; International audience; We explored the use of support vector machines (SVM) in order to analyze the ensemble activities of 24 postural and focal muscles recorded during a whole body pointing task. Because of the large number of variables involved in motor control studies, such multivariate methods have much to offer over the standard univariate techniques that are currently employed in the field to detect modifications. The SVM was used to uncover the principle differences underlying several variations of the task. Five variants of the task were used. An unconstrained reaching, two constrained at the focal level and two …

AdultMaleSupport Vector MachineNeural NetworksComputer sciencePosturelcsh:MedicineElectromyographyKinematicsMotor ActivityDIAGNOSISCLASSIFICATIONTask (project management)03 medical and health sciences0302 clinical medicineDiscriminative modelmedicineHumanslcsh:ScienceMuscle SkeletalBiology030304 developmental biologyComputational NeuroscienceMotor Systems0303 health sciencesCOORDINATIONMultidisciplinaryMOVEMENTSmedicine.diagnostic_testbusiness.industryElectromyographylcsh:RUnivariateMotor controlPattern recognitionBiomechanical PhenomenaSupport vector machineKernel methodEQUILIBRIUMPATTERNSARM[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]lcsh:QArtificial intelligencebusiness030217 neurology & neurosurgeryResearch ArticleNeurosciencePloS one
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Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.

2003

Abstract Background Decreased sensitivity to and increased tolerance for the effects of alcohol is a phenotype, which was shown to be associated with an increased risk for alcoholism in humans and was observed in protein tyrosine kinase (PTK) fyn knockout mice. Methods We performed an association study of genetic variations of PTK fyn in 430 alcohol-dependent patients and 365 unrelated control subjects from two independent samples. Results In a combined analysis, we found an association of alcohol dependence with the single nucleotide polymorphism (SNP) T137346C in the 5′ untranslated region (UTR) of the gene. A relevant association could be excluded for the remaining two informative SNPs. …

AdultMaleThreonineLinkage disequilibriumGenotypeGlycineSingle-nucleotide polymorphismBiologyProto-Oncogene Proteins c-fynPolymorphism Single NucleotideCohort StudiesFYNGene FrequencyProto-Oncogene ProteinsGenotypeSNPHumansCysteineAlleleBiological PsychiatryGeneticsAlanineChi-Square DistributionAlcohol dependenceGenetic VariationMiddle AgedAlcoholismCase-Control StudiesFemale5' Untranslated RegionsTyrosine kinaseBiological psychiatry
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Distribution, genetic and cardiovascular determinants of FVIII:c - Data from the population-based Gutenberg Health Study

2015

Background: Elevated levels of FVIII:c are associated with risk for both venous and arterial thromboembolism. However, no population-based study on the sex-specific distribution and reference ranges of plasma FVIII: c and its cardiovascular determinants is available. Methods: FVIII:c was analyzed in a randomly selected sample of 2533 males and 2440 females from the Gutenberg Health Study in Germany. Multivariable regression analyses for FVIII:c were performed under adjustment for genetic determinants, cardiovascular risk factors and cardiovascular disease. Results and conclusions: Females (126.6% (95% CI: 125.2/128)) showed higher FVIII:c levels than males (121.2% (119.8/122.7)). FVIII:c le…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyLinkage disequilibriumGenotypeanimal diseasesPopulationFVIII:c reference valuesSingle-nucleotide polymorphismDiseaseAge DistributionVon Willebrand factorGermanyThromboembolismhemic and lymphatic diseasesInternal medicineVenous thrombosisHumansMedicineGenetic Predisposition to DiseaseProspective StudiesSex DistributioneducationAgededucation.field_of_studyEpidemiological studiesFactor VIIIPolymorphism Geneticbiologybusiness.industryIncidenceC-reactive proteinArterial thrombosisDNAMiddle AgedNomogrammedicine.diseaseVenous thrombosisPopulation SurveillanceImmunologybiology.proteinFemaleCardiology and Cardiovascular MedicinebusinessFollow-Up Studies
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Allelic variants of IL1R1gene associate with severe hand osteoarthritis

2010

Background In search for genes predisposing to osteoarthritis (OA), several genome wide scans have provided evidence for linkage on 2q. In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families. Methods We genotyped 32 single nucleotide polymorphisms (SNPs) in this 470 kb region comprising six genes belonging to the interleukin 1 superfamily and monitored for association with individual SNPs and SNP haplotypes among severe familial hand OA cases (material extended from our previous linkage study; n = 134), unrelated end-stage bilateral primary knee OA cases (n =…

AdultMalelcsh:Internal medicineLinkage disequilibriumLINKAGE DISEQUILIBRIUMlcsh:QH426-470Hand JointsNF-KAPPA-BSingle-nucleotide polymorphismLocus (genetics)KNEE OSTEOARTHRITISBiologyRADIOGRAPHIC SIGNSPolymorphism Single NucleotideSeverity of Illness IndexGenomeCHROMOSOME 2QINTERLEUKIN-1 RECEPTOR ANTAGONIST03 medical and health sciences0302 clinical medicineOsteoarthritisGeneticsHumansSNPGenetic Predisposition to DiseaseGenetics(clinical)Allelelcsh:RC31-1245GeneAllelesPOLYMORPHISMSGenetics (clinical)AgedHAPLOTYPE RECONSTRUCTION030304 developmental biologyReceptors Interleukin-1 Type I030203 arthritis & rheumatologyGenetics0303 health sciencesHaplotypeCLUSTERMiddle Aged314 Health sciences3. Good healthlcsh:GeneticsCase-Control StudiesDISC DEGENERATIONFemaleResearch ArticleBMC Medical Genetics
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Dietary acid load and renal function have varying effects on blood acid-base status and exercise performance across age and sex

2017

Diet composition influences acid-base status of the body. This may become more relevant as renal functional capacity declines with aging. We examined the effects of low (LD) versus high dietary acid load (HD) on blood acid-base status and exercise performance. Participants included 22 adolescents, 33 young adults (YA), and 33 elderly (EL), who followed a 7-day LD and HD in a randomized order. At the end of both diet periods the subjects performed a cycle ergometer test (3 × 10 min at 35%, 55%, 75%, and (except EL) until exhaustion at 100% of maximal oxygen uptake). At the beginning of and after the diet periods, blood samples were collected at rest and after all workloads. Oxygen uptake, r…

AdultMalemedicine.medical_specialtyAdolescentPhysiologyEndocrinology Diabetes and MetabolismBicarbonateRenal functionPhysiology030209 endocrinology & metabolismAcid–base homeostasisKidneyKidney Function Tests03 medical and health scienceschemistry.chemical_compoundOxygen Consumption0302 clinical medicinePhysiology (medical)Internal medicineHeart rateHumansMedicineAerobic exerciseExerciseRespiratory exchange ratioAgedAcid-Base EquilibriumNutrition and Dieteticsbusiness.industryVO2 max030229 sport sciencesGeneral MedicineMiddle AgedDietBicarbonatesEndocrinologyBreath TestschemistryExercise TestFemaleBase excessbusinessApplied Physiology, Nutrition, and Metabolism
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''Modulation of Anticipatory Postural Activity For Multiple Conditions of A Whole-body Pointing Task''

2012

Tolambiya, A. | Chiovetto, E. | Pozzo, T. | Thomas, E.; International audience; ''This is a study on associated postural activities during the anticipatory segments of a multijoint movement. Several previous studies have shown that they are task dependant. The previous studies, however, have mostly been limited in demonstrating the presence of modulation for one task condition, that is, one aspect such as the distance of the target or the direction of reaching. Real-life activities like whole-body pointing, however, can vary in several ways. How specific is the adaptation of the postural activities for the diverse possibilities of a whole-body pointing task? We used a classification paradig…

AdultMalemedicine.medical_specialtyCORTEXSupport Vector MachineMovementPostureEMG ANALYSISAdaptation (eye)CLASSIFICATIONTask (project management)Physical medicine and rehabilitationModulation (music)medicineMotor activity''VOLUNTARY MOVEMENTSCommunicationCOORDINATIONbusiness.industryMovement (music)General NeuroscienceTARGET DISTANCEFeed forwardMotor controlBrainElectroencephalographyHUMANSAnticipation PsychologicalCLASSIFICATION''EQUILIBRIUMADJUSTMENTS[ SCCO.NEUR ] Cognitive science/NeurosciencePATTERNSVOLUNTARY MOVEMENTSbusinessPsychologyWhole bodyPsychomotor Performance
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Body Composition and Power Performance Improved After Weight Reduction in Male Athletes Without Hampering Hormonal Balance

2014

The aim of this study was to investigate the effects of a 4-week weight reduction period with high protein and reduced carbohydrate intake on body composition, explosive power, speed, serum hormones, and acid-base balance in male track and field jumpers and sprinters. Eight participants were assigned to a high weight reduction group (HWR; energy restriction 750 kcal·d) and 7 to a low weight reduction group (LWR; energy restriction 300 kcal·d). Energy and carbohydrate intake decreased significantly (p ≤ 0.05) only in HWR by 740 ± 330 kcal·d and 130 ± 29 g·d, respectively. Furthermore, total body mass and fat mass decreased (p ≤ 0.05) only in HWR by 2.2 ± 1.0 kg and 1.7 ± 1.6 kg, respectively…

AdultMalemedicine.medical_specialtyDiet ReducingHydrocortisoneGlobulinPhysical Therapy Sports Therapy and RehabilitationDiet Carbohydrate-RestrictedSex hormone-binding globulinWeight lossSex Hormone-Binding GlobulinInternal medicineWeight LossmedicineHumansTestosteroneOrthopedics and Sports Medicineta315Balance (ability)HydrocortisoneAcid-Base EquilibriumbiologyChemistryTrack and FieldGeneral MedicineCarbohydrateexplosive powerEndocrinologySprintBody Compositionbiology.proteinDietary Proteinsmedicine.symptomproteinBiomarkersHormonemedicine.drugJournal of Strength and Conditioning Research
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