Search results for " algorithm"

showing 10 items of 2538 documents

BRAF V600E Mutation in Two Distinct Meningeal Melanocytomas Associated With a Nevus of Ota

2014

MaleProto-Oncogene Proteins B-rafCancer ResearchSkin NeoplasmsAdolescentGlutamic AcidNevus of OtaValineMeningeal NeoplasmsmedicineHumansMelanomabusiness.industryValinemedicine.diseaseNevus of OtaBRAF V600ECell Transformation NeoplasticOncologyMutationMutation (genetic algorithm)Cancer researchMelanocytesSignal transductionbusinessSignal TransductionJournal of Clinical Oncology
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The COPD multi-dimensional phenotype: A new classification from the STORICO Italian observational study.

2019

BackgroundThis paper is aimed to (i) develop an innovative classification of COPD, multi-dimensional phenotype, based on a multidimensional assessment; (ii) describe the identified multi-dimensional phenotypes.MethodsAn exploratory factor analysis to identify the main classificatory variables and, then, a cluster analysis based on these variables were run to classify the COPD-diagnosed 514 patients enrolled in the STORICO (trial registration number: NCT03105999) study into multi-dimensional phenotypes.ResultsThe circadian rhythm of symptoms and health-related quality of life, but neither comorbidity nor respiratory function, qualified as primary classificatory variables. Five multidimension…

MalePulmonologyPhysiologyComorbidityAnxietyPathology and Laboratory MedicineCohort StudiesPulmonary Disease Chronic ObstructiveMathematical and Statistical TechniquesQuality of lifeMedicine and Health SciencesCoughingCluster AnalysisRespiratory functionPublic and Occupational HealthAged 80 and overCOPDMultidisciplinaryDepressionApplied MathematicsSimulation and ModelingQStatisticsRMiddle AgedExploratory factor analysisCircadian RhythmBody FluidsCircadian RhythmsPhenotypeItalyPhysical SciencesAnxietyMedicineFemalemedicine.symptomAnatomyFactor AnalysisAlgorithmsCohort studyResearch Articlemedicine.medical_specialtyScienceMemory EpisodicChronic Obstructive Pulmonary DiseaseSettore MED/10 - Malattie Dell'Apparato RespiratorioResearch and Analysis MethodsClustering AlgorithmsSigns and SymptomsDiagnostic MedicineInternal medicinemedicineCOPDHumansStatistical MethodsAgedbusiness.industryBiology and Life SciencesPhysical Activitymedicine.diseaseComorbidityrespiratory tract diseasesMucusDyspneaCoughQuality of LifeObservational studybusinessFactor Analysis StatisticalSleepPhysiological ProcessesChronobiologymultiple phenotypesMathematicsPloS one
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Chemometric and chemoinformatic analyses of anabolic and androgenic activities of testosterone and dihydrotestosterone analogues

2008

Predictive quantitative structure-activity relationship (QSAR) models of anabolic and androgenic activities for the testosterone and dihydrotestosterone steroid analogues were obtained by means of multiple linear regression using quantum and physicochemical molecular descriptors (MD) as well as a genetic algorithm for the selection of the best subset of variables. Quantitative models found for describing the anabolic (androgenic) activity are significant from a statistical point of view: R2 of 0.84 (0.72 and 0.70). A leave-one-out cross-validation procedure revealed that the regression models had a fairly good predictability [q2 of 0.80 (0.60 and 0.59)]. In addition, other QSAR models were …

MaleQuantitative structure–activity relationshipAnabolismStereochemistrymedicine.medical_treatmentClinical BiochemistryAnabolic and androgenic activitiesQSAR modelQuantitative Structure-Activity RelationshipPharmaceutical ScienceBiochemistrySteroidAnabolic AgentsMolecular descriptorDrug DiscoveryLinear regressionmedicineCluster AnalysisHumansComputer SimulationTestosteroneMolecular BiologyChemistryOrganic ChemistryDihydrotestosteroneModels ChemicalGenetic algorithmDihydrotestosteroneAndrogensQuantum and physicochemical molecular descriptorMolecular MedicineTestosterone and dihydrotestosterone steroid analoguesAlgorithmsAnabolic steroidApplicability domainmedicine.drugBioorganic and Medicinal Chemistry 16: 6448-6459 (2008)
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Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

2012

Abstract Objectives Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). Design and methods We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. Results In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. Conclusions Patients with the c.614delC mu…

MaleSettore MED/09 - Medicina InternaClinical BiochemistryDNA Mutational AnalysisHigh Resolution MeltFrameshift mutationExonmedicineHumansFrameshift MutationGeneSequence DeletionGeneticsFamily HealthAlpha-galactosidasebiologyBase Sequencealpha-galactosidase A geneGeneral MedicineExonsmedicine.diseaseMolecular biologyFabry diseasealpha-GalactosidaseMutation (genetic algorithm)Mutation testingbiology.proteinFabry DiseaseFemalemutationClinical biochemistry
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INTERSPECIFIC AGGRESSION CAUSES NEGATIVE SELECTION ON SEXUAL CHARACTERS

2005

Interspecific aggression originating from mistaken species recognition may cause selection on secondary sexual characters, but this hypothesis has remained untested. Here we report a field experiment designed to test directly whether interspecific aggression causes selection on secondary sexual characters, wing spots, in wild damselfly populations. Males of Calopteryx virgo are more aggressive toward males of C. splendens with large than with small wing spots. This differential interspecific aggression may cause negative selection on wing spot size. Indeed, our results show that directional survival selection on wing spot size of C. splendens males was changed by experimental removal of C. …

MaleSympatryInsectaZoologyNegative selectionDamselflymedicineCharacter displacementGeneticsAnimalsWings AnimalBody Weights and MeasuresSelection GeneticFinlandSelection (genetic algorithm)Ecology Evolution Behavior and SystematicsAnalysis of VarianceSex CharacteristicsbiologyPigmentationDirectional selectionEcologyAggressionInterspecific competitionbiology.organism_classificationSurvival AnalysisAggressionGenetics Populationmedicine.symptomGeneral Agricultural and Biological SciencesEvolution
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Data-Driven Clustering Approach to Derive Taste Perception Profiles from Sweet, Salt, Sour, Bitter, and Umami Perception Scores: An Illustration amon…

2021

BACKGROUND Current approaches to studying relations between taste perception and diet quality typically consider each taste-sweet, salt, sour, bitter, umami-separately or aggregately, as total taste scores. Consistent with studying dietary patterns rather than single foods or total energy, an additional approach may be to study all 5 tastes collectively as "taste perception profiles." OBJECTIVE We developed a data-driven clustering approach to derive taste perception profiles from taste perception scores and examined whether profiles outperformed total taste scores for capturing individual variability in taste perception. METHODS The cohort included 367 community-dwelling adults [55-75 y; 5…

MaleTastemedicine.medical_specialtygenetic structuresmedia_common.quotation_subjectMedicine (miscellaneous)UmamiAudiologySodium ChloridePerceptionmedicineCluster AnalysisHumansTotal energyCluster analysismedia_commonAgedMetabolic SyndromeNutrition and DieteticsTaste Perceptionmedicine.diseaseCluster algorithmBackground currentTasteFemaleMetabolic syndromePsychologypsychological phenomena and processesThe Journal of nutrition
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Do randomized clinical trial selection criteria reflect levels of risk as observed in a general population of acute myocardial infarction survivors? …

2016

IF 4.638; International audience; Background: Few clinical trials have focused on populations with a history of distant myocardial infarction (MI). The PEGASUS trial assessed the impact of dual antiplatelet therapy in such patients, selected by enrichment criteria of high cardiovascular risk. Whether the PEGASUS population reflects the risk of a broader post-MI population is questionable. We analyzed whether 4-year mortality of a routine-practice population would differ according to the inclusion and exclusion criteria used in PEGASUS.Methods: FAST-MI is a nationwide French registry recruiting acute MI patients in November 2005; 2490 patients alive and without recurrent MI at one year were …

MaleTicagrelorMyocardial Infarction030204 cardiovascular system & hematologyCoronary artery diseaselaw.inventionCoronary artery disease0302 clinical medicineRandomized controlled trialRisk FactorslawSecondary PreventionRegistriesSurvivors030212 general & internal medicineMyocardial infarctionRandomized Controlled Trials as TopicAged 80 and overeducation.field_of_studyReperfusion therapyEvidence-Based PharmacotherapyMiddle Aged[ SDV.MHEP.CSC ] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemST-elevation myocardial infarctionPopulation SurveillanceInclusion and exclusion criteriaFemaleFranceAtherothrombotic EventsCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyPopulationAcute St-ElevationAcute myocardial infarctionVorapaxar03 medical and health sciences[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemInternal medicinemedicineHumansMortalityeducationSelection (genetic algorithm)AgedAspirinbusiness.industryPatient SelectionAntiplatelet therapymedicine.diseaseComorbidityClinical trialAdherencePhysical therapyTherapybusinessFollow-Up Studies
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TMS-evoked long-lasting artefacts: A new adaptive algorithm for EEG signal correction

2017

Abstract Objective During EEG the discharge of TMS generates a long-lasting decay artefact (DA) that makes the analysis of TMS-evoked potentials (TEPs) difficult. Our aim was twofold: (1) to describe how the DA affects the recorded EEG and (2) to develop a new adaptive detrend algorithm (ADA) able to correct the DA. Methods We performed two experiments testing 50 healthy volunteers. In experiment 1, we tested the efficacy of ADA by comparing it with two commonly-used independent component analysis (ICA) algorithms. In experiment 2, we further investigated the efficiency of ADA and the impact of the DA evoked from TMS over frontal, motor and parietal areas. Results Our results demonstrated t…

MaleTime Factorsmedicine.medical_treatmentElectroencephalographySignal0302 clinical medicineSignal correctionDetrendEEGAdaptive algorithmmedicine.diagnostic_test05 social sciencesElectroencephalographyTranscranial Magnetic StimulationSensory SystemsAlgorithmNeurologyArtefact; Detrend; EEG; ICA; TMS; Sensory Systems; Neurology; Neurology (clinical); Physiology (medical)ArtifactFemalePrimary motor cortexArtifactsPsychologyAlgorithmsHumanAdultTime Factor050105 experimental psychologyNOYoung Adult03 medical and health sciencesPhysiology (medical)medicineHumansMiddle frontal gyrus0501 psychology and cognitive sciencesICAArtefactSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicabusiness.industryPattern recognitionIndependent component analysisTranscranial magnetic stimulationTMSNeurology (clinical)Artificial intelligenceSensory SystembusinessNeuroscience030217 neurology & neurosurgeryClinical Neurophysiology
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Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

1997

The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth factor receptor 3 (FGFR3) in this family. The mutation, P250R, had been previously reported in 10 patients with non-syndromic craniosynostosis. Variable expression of this mutation is evident especially in two additional members of this family, one of whom is severely affected with pancraniosynostosi…

MaleTurkish populationGenetic LinkageBiologyMuenke syndromeCraniosynostosisVariable ExpressionCraniosynostosesGenetic linkageGeneticsmedicineHumansReceptor Fibroblast Growth Factor Type 3Genetics (clinical)GeneticsGenetic heterogeneityInfant NewbornInfantProtein-Tyrosine KinasesFibroblast growth factor receptor 3medicine.diseaseReceptors Fibroblast Growth FactorPedigreePhenotypeMutationMutation (genetic algorithm)FemaleResearch ArticleJournal of Medical Genetics
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Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

1998

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

MaleUsher syndromeNonsense mutationDNA Mutational AnalysisGenes RecessiveBiologyDeafnessMyosinsPolymerase Chain ReactionExonotorhinolaryngologic diseasesmedicineHumansCysteineMolecular BiologyGenePolymorphism Single-Stranded ConformationalGeneticsMyosin VIIaChromosomeDyneinsCell BiologyDNAExonsSyndromeMiddle Agedmedicine.diseasePedigreeMyosin VIIaMutation (genetic algorithm)MutationCodon TerminatorFemaleNovel mutationRetinitis PigmentosaMolecular and cellular probes
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