Search results for "Reference value"

showing 10 items of 536 documents

Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?

2007

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

MaleCancer ResearchSettore MED/06 - Oncologia MedicaPopulationBRCA1 breast cancerBreast NeoplasmsBiologyRisk AssessmentAllelotype AnalysisReference ValuesHumansAlleleeducationSicilySequence DeletionOvarian NeoplasmsGeneticseducation.field_of_studyBRCA1 ProteinHaplotypeFounder Effectlanguage.human_languagePedigreeOncologyMutationMutation (genetic algorithm)languageMicrosatelliteFemaleSicilianMicrosatellite RepeatsFounder effect
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First-trimester screening for trisomy-21 using a simplified method to assess the presence or absence of the fetal nasal bone.

2005

Objective To determine the benefit of including nasal bone assessment in addition to standard first-trimester markers (nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A) as a screening test for Down syndrome, using a strict criterion for classification of nasal bone absence. Study design Nasal bone assessment was conducted in 2411 patients with crown-rump length between 45 and 84 mm, including 15 patients with Down syndrome. A patient was considered to have an absent nasal bone only if there was no evidence of present nasal bone. Unlike other studies, nasal bone was classified as present when there was evidence of a thin echogenic line und…

AdultDown syndromemedicine.medical_specialtyPregnancy-associated plasma protein AUrologyAneuploidyPrenatal diagnosisEmbryonic StructuresSensitivity and SpecificityCrown-Rump LengthUltrasonography PrenatalPredictive Value of TestsPregnancyReference ValuesRisk FactorsmedicineConfidence IntervalsHumansMass ScreeningNasal BoneProbabilityObstetricsbusiness.industryObstetrics and GynecologyEchogenicityPrenatal Caremedicine.diseaseNasal boneConfidence intervalPregnancy Trimester FirstCase-Control StudiesLinear ModelsFemaleDown SyndromeTrisomybusinessNuchal Translucency MeasurementAmerican journal of obstetrics and gynecology
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Expectation of sensory stimulation modulates brain activation during visual motion stimulation.

2005

The differential effects of visual hemifield motion stimulation during fixation of a stationary target were compared under two conditions: fixation straight ahead without any further instructions and fixation straight ahead with attention shifted to the "dark hemifield." Data from nine right-handed volunteers revealed that striate and extrastriate right hemispheric visual areas exhibited larger activations during left hemifield motion stimulation when attention was shifted to the right dark hemifield. Montreal Neurological Institute (MNI) coordinates (26, -98, -4) of the additional clusters activated in the latter condition corresponded best to the kinetic occipital region, which is known t…

Brain activationAdultMalegenetic structuresModels NeurologicalMotion PerceptionStimulationFixation OcularNeural populationGeneral Biochemistry Genetics and Molecular BiologyFunctional LateralityHistory and Philosophy of ScienceReference ValuesPhysical StimulationHumansMotion perceptionCommunicationBrain MappingSensory stimulation therapybusiness.industryGeneral NeuroscienceBrainMiddle AgedVisual motionStraight aheadPositron-Emission TomographyFixation (visual)Visual PerceptionFemaleVisual FieldsPsychologybusinessNeurosciencePhotic StimulationAnnals of the New York Academy of Sciences
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Finnish version of the Tampa Scale of Kinesiophobia: Reference values in the Finnish general population and associations with leisure-time physical a…

2014

[Abstract.] Objectives: To create reference values for the general Finnish population using the Tampa Scale of Kinesiophobia (TSK-FIN), to study gender differences in the TSK-FIN, to assess the internal consistency of the TSK-FIN, to estimate the prevalence of high levels of kinesiophobia in Finnish men and women, and to examine the association between kinesio-phobia and leisure-time physical activity and the impact of co-morbidities on kinesiophobia. Methods: The study population comprised 455 men and 579 women. Participants completed a self-administered questionnaire about their socio-demographic factors, leisure-time physical activity, co-morbidities and kinesiophobia. Results: The mean …

AdultMalemedicine.medical_specialtyPsychometricsPsychometricsPopulationPhysical activityphysical activityPhysical Therapy Sports Therapy and RehabilitationMotor ActivityLeisure ActivitiesCronbach's alphaReference ValuesSurveys and QuestionnairesPrevalencemedicineviitearvotHumansMusculoskeletal DiseaseseducationFinlandPain MeasurementSex Characteristicseducation.field_of_studyRehabilitationFearGeneral MedicineMiddle Agedco-morbiditiesPhobic DisordersReference valuesScale (social sciences)Physical therapyPopulation studyFemalePsychologyLow Back Painpain-related fearSex characteristics
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Neural discrimination of nonprototypical chords in music experts and laymen:an MEG study

2009

Abstract At the level of the auditory cortex, musicians discriminate pitch changes more accurately than nonmusicians. However, it is not agreed upon how sound familiarity and musical expertise interact in the formation of pitch-change discrimination skills, that is, whether musicians possess musical pitch discrimination abilities that are generally more accurate than in nonmusicians or, alternatively, whether they may be distinguished from nonmusicians particularly with respect to the discrimination of nonprototypical sounds that do not play a reference role in Western tonal music. To resolve this, we used magnetoencephalography (MEG) to measure the change-related magnetic mismatch response…

AdultMalemedicine.medical_specialtyCognitive NeuroscienceMismatch negativityAudiologyRecognition (Psychology)Auditory cortex050105 experimental psychologyPitch Discrimination03 medical and health sciencesYoung AdultDiscrimination Psychological0302 clinical medicineReference ValuesmedicineAuditory systemHumans0501 psychology and cognitive sciencesAttention10. No inequalityCerebral CortexDiscrimination (Psychology)Communicationmedicine.diagnostic_testbusiness.industryMajor and minor05 social sciencesMagnetoencephalographyRecognition PsychologyMagnetoencephalographyConsonance and dissonancemedicine.anatomical_structureAcoustic StimulationEvoked Potentials AuditoryChord (music)FemalePsychologybusiness030217 neurology & neurosurgeryMusicPitch (Music)
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Enhanced oxidative susceptibility and reduced antioxidant content of metabolic precursors of small, dense low-density lipoproteins.

2001

Abstract PURPOSE: Elevated plasma concentrations of low-density lipoproteins (LDL) increase risk for coronary heart disease. However, lipoprotein profiles rich in small, dense LDL particles confer greater risk than those that mainly consist of large, buoyant LDL. This may be due, in part, to the greater oxidative susceptibility of small, dense LDL. In the current studies, we tested whether differences in the oxidative behavior of buoyant and dense LDL arise from differences in their immediate metabolic precursors, intermediate-density lipoproteins. SUBJECTS AND METHODS: We compared the properties of intermediate-density lipoproteins and buoyant and dense LDL subfractions in 9 subjects with …

AdultMalemedicine.medical_specialtyAntioxidantParinaric Acidmedicine.medical_treatmentOxidative phosphorylationAntioxidantsReference ValuesInternal medicineMedicineHumansPolyacrylamide gel electrophoresisFluorescent DyesIntermediate-density lipoproteinbusiness.industryGeneral MedicineLipoproteins LDLEndocrinologyPhenotypeFatty Acids Unsaturatedlipids (amino acids peptides and proteins)Electrophoresis Polyacrylamide GelFemaleUltracentrifugebusinessQuantitative analysis (chemistry)Oxidation-ReductionLipoproteinThe American journal of medicine
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Influence of Concurrent Obesity and Low Birth Weight on Blood Pressure Phenotype in Youth

2009

The aim of this study was to assess the impact of obesity and low birth weight on both office and ambulatory blood pressure (BP) values, as well as on aortic-derived parameters in youths. A total of 422 white youths, from 10 to 18 years of age, were included. Subjects were divided into 4 groups according to the presence (234; 55%) or the absence (188; 45%) of obesity and according to low (114; 27%) or normal (308; 73%, birth weight. Spacelabs 90207 was used to measure ambulatory BP during a 24-hour period. SphygmoCor radial/aortic transform software was used to estimate aortic pressure waveform. Office, 24-hour, daytime, and nighttime systolic BP values were significantly higher in those s…

Malemedicine.medical_specialtyPediatricsAmbulatory blood pressureAdolescentBirth weightObesidadSeverity of Illness IndexBody Mass IndexPeso de nacimiento; Obesidad; Adolescencia; Presión sanguíneaCohort StudiesAge DistributionReference ValuesInternal medicineHeart rateInternal MedicinemedicineHumansObesitySex DistributionChildProbabilitybusiness.industryIncidenceInfant NewbornBlood Pressure Monitoring AmbulatoryInfant Low Birth WeightPrognosis:CIENCIAS MÉDICAS [UNESCO]medicine.diseasePresión sanguíneaObesityLow birth weightBlood pressureHypertensionMultivariate AnalysisAdolescenciaUNESCO::CIENCIAS MÉDICASAmbulatoryLinear ModelsCardiologyPeso de nacimientoFemalemedicine.symptombusinessBody mass indexHypertension
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The accuracy of calculated base excess in blood.

2002

Most equations used for calculation of the base excess (BE, mmol/l) in human blood are based on the fundamental equation derived by Siggaard-Andersen and called the Van Slyke equation: BE = Z x [[cHCO3-(P) - C7.4 HCO3-(P)] + beta x (pH -7.4)]. In simple approximation, where Z is a constant which depends only on total hemoglobin concentration (cHb, g/dl) in blood, three equations were tested: the ones proposed by Siggaard-Andersen (SA), the National Committee for Clinical Laboratory Standards (NCCLS) or Zander (ZA). They differ only slightly in the solubility factor for carbon dioxide (alphaCO2, mmol/l x mmHg) and in the apparent pK(pK'), but more significantly in the plasma bicarbonate conc…

medicine.medical_specialtySimple equationPartial PressureClinical BiochemistryAnalytical chemistrypCO2HemoglobinsReference ValuesmedicineMethodsHumansSolubilityWhole bloodAcid-Base EquilibriumHuman bloodChemistryBiochemistry (medical)Reproducibility of ResultsGeneral MedicineCarbon DioxideHydrogen-Ion ConcentrationSurgeryOxygenBicarbonatesBloodChemistry ClinicalArterial bloodBase excessAcid–base reactionClinical chemistry and laboratory medicine
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Modulatory Role of Endothelial and Nonendothelial Nitric Oxide in 5-Hydroxytryptamine-induced Contraction in Cerebral Arteries after Subarachnoid Hem…

1996

OBJECTIVE : Endothelial dysfunction is claimed to play a role in the pathogenesis of delayed cerebral vasospasm after subarachnoid hemorrhage (SAH). We have examined the effect of experimental SAH on the modulatory action of endothelial and nonendothelial nitric oxide (NO) in the contractile response of goat middle cerebral artery to 5-hydroxytryptamine (5-HT). METHODS : We compared the 5-HT-induced contractile responses of cerebral arteries from control goats and from goats with SAH that had been experimentally induced 3 days earlier by delivery of autologous arterial blood into the subarachnoid space. Contractile responses were examined by recording the isometric tension in isolated cereb…

Serotoninmedicine.medical_specialtySubarachnoid hemorrhageEndotheliumCerebral arteriesNitric OxideCerebral vasospasmReference Valuesmedicine.arteryInternal medicinemedicineAnimalscardiovascular diseasesEndothelial dysfunctionVascular diseasebusiness.industryGoatsCerebral ArteriesSubarachnoid Hemorrhagemedicine.diseasenervous system diseasesmedicine.anatomical_structureEndocrinologyVasoconstrictionAnesthesiaMiddle cerebral arteryFemaleSurgeryEndothelium VascularNeurology (clinical)businessBlood vesselNeurosurgery
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Dominance for Vestibular Cortical Function in the Non-dominant Hemisphere

2003

The aim of this (15)O-labelled H(2)O bolus positron emission tomography (PET) study was to analyse the hemispheric dominance of the vestibular cortical system. Therefore, the differential effects of caloric vestibular stimulation (right or left ear irrigation with warm water at 44 degrees C) on cortical and subcortical activation were studied in 12 right-handed and 12 left-handed healthy volunteers. Caloric irrigation induces a direction-specific sensation of rotation and nystagmus. Significant regional cerebral blood flow increases were found in a network within both hemispheres, including the superior frontal gyrus/sulcus, the precentral gyrus and the inferior parietal lobule with the sup…

AdultMaleCognitive NeurosciencePrecuneusInferior frontal gyrusFunctional LateralityCellular and Molecular NeuroscienceSuperior temporal gyrusSupramarginal gyrusReference ValuesCaloric Testsotorhinolaryngologic diseasesmedicineHumansDominance CerebralCerebral CortexVestibular systemBrainPrecentral gyrusAnatomyMiddle AgedVestibular cortexmedicine.anatomical_structureSuperior frontal gyrusFemaleVestibule Labyrinthsense organsPsychologyNeuroscienceTomography Emission-ComputedCerebral Cortex
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