Search results for "equilibrium"

showing 10 items of 1021 documents

Association of functional DBH genetic variants with alcohol dependence risk and related depression and suicide attempt phenotypes: Results from a lar…

2012

Abstract Objective Dopamine-beta-hydroxylase (DBH) metabolizes the conversion of dopamine to noradrenaline. DBH, located on chromosome 9q34.2 has variants with potential functional consequences which may be related to alterations of neurotransmitter function and several psychiatric phenotypes, including alcohol dependence (AD), depression (MD) and suicidal behavior (SA). The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to investigate the role of DBH SNPs and haplotypes in AD risk and associated phenotypes (AD with MD or SA). Method 1606 inpatient subjects with DSM-IV AD from four addiction treatment centers and 1866 control sub…

AdultMaleOncologymedicine.medical_specialtyGenotypePoison controlSuicide AttemptedSingle-nucleotide polymorphismDopamine beta-HydroxylaseToxicologyPolymorphism Single NucleotideRisk AssessmentLinkage DisequilibriumGermanyInternal medicinemedicineHumansSNPPharmacology (medical)Age of OnsetDepression (differential diagnoses)PharmacologyDepressive DisorderSex CharacteristicsSuicide attemptAlcohol dependenceHaplotypeDNAMiddle AgedAlcoholismPsychiatry and Mental healthPhenotypeCase-Control StudiesSample SizeEtiologyFemalePsychologyGenome-Wide Association StudyClinical psychologyDrug and Alcohol Dependence
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HLA Class I and Class II Polymorphism in Three Sicilian Populations

2007

Two human leukocyte antigen (HLA) class I loci (HLA-A and HLA-B) and one class II locus (HLA-DR) were typed at the DNA level in the Sicilian population. Study participants were of Sicilian origin (183 for class I loci and 260 for class II loci) and live in three towns, chosen on the basis of geographic position and different historical events. These towns are Sciacca (southwest Sicily, located at sea level, conquered by Arabs in a.d. 814), Piana degli Albanesi (northwest Sicily, 720 m above sea level, has maintained religious, cultural, and linguistic peculiarities traced to Albanian settlement in 1488), and Troina (northeast Sicily, 1,120 m above sea level, known as the first settlement of…

AdultMalePopulationLocus (genetics)Human leukocyte antigenLinkage DisequilibriumGene FrequencyGeneticsHumansAlleleeducationSicilyAllele frequencyAllelesGenetics (clinical)Ecology Evolution Behavior and Systematicseducation.field_of_studyPolymorphism GeneticHLA-A AntigensGenetic VariationHLA-DR Antigenslanguage.human_languageGenetics PopulationHaplotypesHLA-B AntigensChild PreschoolGenetic structurelanguageEthnologyFemalePhoenicianDNA typing haplotype frequency HLA polymorphism sicilian populationSicilianHLA-DRB1 ChainsDemographyHuman Biology
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The applicability of SRTM in [18F]fallypride PET investigations: Impact of scan durations

2011

The high-affinity radioligand [18F]fallypride (FP) is frequently used for quantification of striatal/extrastriatal D2/3 receptors and the receptor occupancies of antipsychotics (APs). Its 110 minutes half-life allows long scan durations. However, the optimum scan duration is a matter of debate. This investigation focuses on scan-duration-related effects on simplified reference tissue model (SRTM) results and the time point of transient equilibrium in a large sample of dynamic FP positron emission tomography (PET) scans. Fifty drug-free and 50 AP-treated subjects underwent FP-PET scans (180 minutes scan duration). The binding potential ( BPND) of the putamen, thalamus, and temporal cortex w…

AdultMalePyrrolidinesTime FactorsMaterials scienceAdolescentShuttle Radar Topography MissionRadioligand AssayYoung AdultRadioligandmedicineHumansTemporal cortexTransient equilibriummedicine.diagnostic_testReceptors Dopamine D2business.industryMental DisordersPutamenReceptors Dopamine D3Binding potentialMiddle AgedCorpus StriatumNeurologyFallypridePositron emission tomographyPositron-Emission TomographyBenzamidesFemaleOriginal ArticleNeurology (clinical)Cardiology and Cardiovascular MedicineNuclear medicinebusinessAntipsychotic AgentsJournal of Cerebral Blood Flow & Metabolism
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Urinary diversion in children and young adults using the Mainz Pouch I technique

1997

Objectives To determine the late complications and consequences for renal function, vitamin and acid-base metabolism after application of the Mainz Pouch I (MZP-I) technique in children and young adults. Patients and methods To November 1994, the MZP-I procedure was carried out in 463 patients at our institution, 91 of whom were children and adolescents (≤20 years old) using bladder augmentation in 21 and a continent cutaneous stoma in 70. A minimum follow-up of 1 year was possible in 87 patients or 163 renal units (RUs) with a mean of 5.5 years (range 1–10.5). Results At the last examination, 23 of 55 (42%) pre-operatively dilated RUs had improved, 131 of the 163 RUs (80%) were stable and …

AdultMaleReoperationmedicine.medical_specialtyAdolescentUrologymedicine.medical_treatmentBile Acids and SaltsFolic AcidUreterStoma (medicine)medicineHumansChildDefecationUpper urinary tractAcid-Base EquilibriumUrinary bladderbusiness.industryUrinary Reservoirs ContinentUrinary diversionUrinary Bladder DiseasesVitaminsSurgeryTreatment OutcomeUrinary Incontinencemedicine.anatomical_structureBladder augmentationChild PreschoolCreatinineFemalePouchbusinessContinent Urinary DiversionFollow-Up StudiesBJU International
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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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