Search results for "algorithm"

showing 10 items of 4887 documents

Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

2013

The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…

AdultProbandNovel mutationGenotypeHearing Loss SensorineuralDNA Mutational AnalysisNonsense mutationMutation MissenseGenes RecessiveCongenital hearing lossConnexin mutationSeverity of Illness IndexConnexinsmedicineHumansMissense mutationFamilySicilyGeneticsbiologyTransition (genetics)InfantGeneral Medicinemedicine.diseaseGJB2Settore MED/32 - AudiologiaPedigreeNovel mutation Connexin mutation GJB2Sensorineural hearing loss Congenital hearing lossConnexin 26Settore MED/31 - OtorinolaringoiatriaNovel mutation; Connexin mutation; GJB2OtorhinolaryngologyMutation (genetic algorithm)biology.proteinSettore MED/26 - NeurologiaSensorineural hearing lossGJB6European Archives of Oto-Rhino-Laryngology
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Non-invasive diagnosis in a case of bronchopulmonary sequestration and proposal of diagnostic algorhythm

2008

The case of a 43-year-old woman with intralobar pulmonary sequestration, Pryce type one, is presented. The medical history was characterised by recurrent bronchopneumonia, productive cough with purulent sputum and hemoptysis in the last three years. Diagnosis was made by CT angiography: multiplanar, maximum intensity projection and volume rendering reconstructions were visualised. A volume reduction of middle and lower lobe with multiple cyst-like bronchiectasis was detected and no evident relationship with tracheobronchial tree was pointed out. Reconstructions aimed at evaluating bronchial structures demonstrated no patency of middle and lower lobar bronchi. The study carried out after con…

AdultPulmonary and Respiratory Medicinemedicine.medical_specialtylcsh:MedicinePulmonary sequestrationmedicine.arterymedicineHumansThoracic aortaBronchopulmonary sequestrationBronchopulmonary sequestrationBronchiectasismedicine.diagnostic_testbusiness.industryDecision Treeslcsh:RLung imagingmedicine.diseaseContrast mediumCT angiographyMaximum intensity projectionAngiographyVascular DisorderFemaleRadiologyCardiology and Cardiovascular MedicinebusinessAlgorithmsMonaldi Archives for Chest Disease
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Detection of a new 3-base pair insertion mutation in the protease gene of human immunodeficiency virus type 1 during highly active antiretroviral the…

2005

To investigate a new insertion mutation in the protease (PR) gene of human immunodeficiency virus type 1 (HIV-1) in a patient extensively pretreated with antiretroviral drugs, genotypic analyses of plasma-derived viruses were performed by sequencing segments of 1302 nucleotides in the pol gene of HIV-1. Despite optimal compliance to highly active antiretroviral therapy (HAART) the patient showed poor virological success. Nucleotide sequences of retrospective available plasma samples exhibited a previously unknown 3-bp insertion mutation, corresponding to a leucine, between codons 31 and 32 of the PR gene. This kind of mutation appears to be very rare and it does not seem to be associated wi…

AdultSequence analysismedicine.medical_treatmentImmunologyMolecular Sequence DataGene Products polHIV InfectionsVirusHIV ProteaseVirologyAntiretroviral Therapy Highly ActivemedicineHumansInsertionCodonGeneBase PairingGeneticsProteasebiologyBase SequenceSequence Analysis DNAbiology.organism_classificationVirologyInfectious DiseasesLentivirusMutation (genetic algorithm)MutationHIV-1FemaleViral diseaseAIDS research and human retroviruses
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In Vitro Percutaneous Penetration of Acyclovir from Solvent Systems and Carbopol 971-P Hydrogels: Influence of Propylene Glycol

2005

The mechanism underlying propylene glycol (PG) effects on acyclovir (ACV) penetration through human epidermis were studied. Solvent systems and Carbopol gels containing increasing percentage of PG (from 0% to 70%, w/w) were used. Viscosity studies of both vehicles were carried out to characterise the influence of rheological behaviour. In solvent systems skin permeation values of ACV increase as the concentration of PG increase yielding a maximum enhancement ratio (ER = 10) for 70% PG. The release rate of ACV from gels was determined. Higuchi's model was used to estimate the apparent diffusion coefficient of the drug. These values show a decrease as the content of PG in the vehicle increase…

AdultSkin AbsorptionAcrylic ResinsAcyclovirPharmaceutical ScienceIn Vitro TechniquesAntiviral AgentsPolyvinyl alcoholDosage formPropanediolExcipientschemistry.chemical_compoundHumansOrganic chemistrySolubilityViscosityChemistryHydrogelsPenetration (firestop)Hydrogen-Ion ConcentrationMiddle AgedPermeationSolventSolubilityPropylene GlycolsSelf-healing hydrogelsSolventsThermodynamicsFemalePolyvinylsAlgorithmsNuclear chemistryJournal of Pharmaceutical Sciences
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Optimal selection of individuals for repeated covariate measurements in follow-up studies

2016

Repeated covariate measurements bring important information on the time-varying risk factors in long epidemiological follow-up studies. However, due to budget limitations, it may be possible to carry out the repeated measurements only for a subset of the cohort. We study cost-efficient alternatives for the simple random sampling in the selection of the individuals to be remeasured. The proposed selection criteria are based on forms of the D-optimality. The selection methods are compared with the simulation studies and illustrated with the data from the East–West study carried out in Finland from 1959 to 1999. The results indicate that cost savings can be achieved if the selection is focuse…

AdultStatistics and ProbabilityTime Factorsdata collectionEpidemiologyComputer sciencemissing covariate data01 natural sciences010104 statistics & probability03 medical and health sciences0302 clinical medicineHealth Information ManagementRisk FactorsStatisticsCovariateEconometricsHumans030212 general & internal medicineoptimal design0101 mathematicsrepeated measurementsFinlandSelection (genetic algorithm)Event (probability theory)ta112Data collectionPatient SelectionFollow up studiesta3142follow-up studyMiddle AgedSimple random sampleCardiovascular DiseasesResearch DesignCohortseurantatutkimusSelection methodFollow-Up StudiesStatistical Methods in Medical Research
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Mixed predictability and cross-validation to assess non-linear Granger causality in short cardiovascular variability series

2006

A method to evaluate the direction and strength of causal interactions in bivariate cardiovascular and cardiorespiratory series is presented. The method is based on quantifying self and mixed predictability of the two series using nearest-neighbour local linear approximation. It returns two causal coupling indexes measuring the relative improvement in predictability along direct and reverse directions, and a directionality index indicating the preferential direction of interaction. The method was implemented through a cross-validation approach that allowed quantification of directionality without constraining the embedding of the series, and fully exploited the available data to maximise th…

AdultStatistics as TopicBiomedical EngineeringInferenceBlood PressureHealth InformaticsBivariate analysisDirectionalityCross-validationGranger causalityHeart RateStatisticsEconometricsHumansComputer SimulationPredictabilityMathematicsSeries (mathematics)Models CardiovascularNonlinear systemNonlinear DynamicsData Interpretation StatisticalShort-term cardiovascular variabilityRespiratory MechanicsRegression AnalysisFemaleNon-linear predictionLinear approximationAlgorithmsBiomedizinische Technik/Biomedical Engineering
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Long-term outcome prediction by clinicopathological risk classification algorithms in node-negative breast cancer--comparison between Adjuvant!, St G…

2009

Background: Defining risk categories in breast cancer is of considerable clinical significance. We have developed a novel risk classification algorithm and compared its prognostic utility to the Web-based tool Adjuvant! and to the St Gallen risk classification. Patients and methods: After a median follow-up of 10 years, we retrospectively analyzed 410 consecutive node-negative breast cancer patients who had not received adjuvant systemic therapy. High risk was defined by any of the following criteria: (i) age 2 cm. All patients were also characterized using Adjuvant! and the St Gallen 2007 risk categories. We analyzed disease-free survival (DFS) and overall survival (OS). Results: The Node-…

AdultTime FactorsBreast NeoplasmsKaplan-Meier EstimateRisk AssessmentSensitivity and SpecificityDisease-Free SurvivalBreast cancerBreast cancer 3Predictive Value of TestsMedicineHumansLongitudinal StudiesProspective StudiesRisk factorAgedNeoplasm StagingRetrospective StudiesAged 80 and overNeovascularization Pathologicbusiness.industryHazard ratioCancerRetrospective cohort studyHematologyGenes erbB-2Middle Agedmedicine.diseasePrognosisImmunohistochemistrySurvival AnalysisTreatment OutcomeOncologyAdult; Aged; Aged 80 and over; Algorithms; Breast Neoplasms/genetics; Breast Neoplasms/pathology; Breast Neoplasms/radiotherapy; Breast Neoplasms/surgery; Disease-Free Survival; Female; Follow-Up Studies; Genes erbB-2; Humans; Immunohistochemistry; Kaplan-Meier Estimate; Longitudinal Studies; Middle Aged; Multivariate Analysis; Neoplasm Staging; Neovascularization Pathologic; Predictive Value of Tests; Prognosis; Prospective Studies; Receptors Progesterone/analysis; Regression Analysis; Retrospective Studies; Risk Assessment; Sensitivity and Specificity; Survival Analysis; Time Factors; Treatment OutcomeMultivariate AnalysisRegression AnalysisFemaleBreast diseasebusinessRisk assessmentReceptors ProgesteroneAlgorithmAlgorithmsFollow-Up Studies
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Time-Varying Surrogate Data to Assess Nonlinearity in Nonstationary Time Series: Application to Heart Rate Variability

2009

We propose a method to extend to time-varying (TV) systems the procedure for generating typical surrogate time series, in order to test the presence of nonlinear dynamics in potentially nonstationary signals. The method is based on fitting a TV autoregressive (AR) model to the original series and then regressing the model coefficients with random replacements of the model residuals to generate TV AR surrogate series. The proposed surrogate series were used in combination with a TV sample entropy (SE) discriminating statistic to assess nonlinearity in both simulated and experimental time series, in comparison with traditional time-invariant (TIV) surrogates combined with the TIV SE discrimin…

AdultTime FactorsComputer scienceRestBiomedical EngineeringSurrogate dataHeart RateStatisticsHumansHeart rate variabilityEntropy (information theory)Computer SimulationNonstationarityEntropy (energy dispersal)Time seriesEntropy (arrow of time)StatisticModels StatisticalEntropy (statistical thermodynamics)RespirationNonlinear dynamicModels CardiovascularComplexitySample entropyNonlinear systemNonlinear DynamicsAutoregressive modelSettore ING-INF/06 - Bioingegneria Elettronica E InformaticaSurrogate dataTime-varying (TV) autoregressive (AR) modelHeart rate variability (HRV)AlgorithmsEntropy (order and disorder)IEEE Transactions on Biomedical Engineering
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Integrated pre-surgical diagnostic algorithm to define extent of disease in cervical cancer

2020

ObjectivesSurvival of patients with cervical cancer is strongly associated with the local extent of the primary disease. The aim of the study was to develop an integrated diagnostic algorithm, including ultrasonography (USG), magnetic resonance imaging (MRI), and examination under anesthesia, to define the local extent of disease in patients with newly diagnosed cervical cancer.MethodsPatients with biopsy proven cervical cancer who underwent primary surgery from January 2013 to December 2018 in four participating centers were recruited. Patients who underwent USG, MRI, and examination under anesthesia prior to surgery were included in the study. Those for whom complete data were not availab…

AdultUterine Cervical Neoplasmcervical cancerUterine Cervical Neoplasms03 medical and health sciences0302 clinical medicineRetrospective StudiePreoperative CareBiopsy80 and overHumansmagnetic resonance imagingMedicineAgedNeoplasm StagingRetrospective StudiesAged 80 and overCervical cancer030219 obstetrics & reproductive medicinemedicine.diagnostic_testultrasoundbusiness.industryParametrialObstetrics and GynecologyMagnetic resonance imagingstagingMiddle Agedmedicine.diseasediagnostic algorithmSettore MED/40 - Ginecologia E OstetriciaSquamous carcinomaOncology030220 oncology & carcinogenesisAdenocarcinomaExamination Under AnesthesiaFemaleMedian bodybusinessAlgorithmAlgorithmsHumanInternational Journal of Gynecologic Cancer
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Neurological vertigo in the emergency room in pediatric and adult age: systematic literature review and proposal for a diagnostic algorithm.

2022

AbstractNeurological vertigo is a common symptom in children and adults presenting to the emergency department (ED) and its evaluation may be challenging, requiring often the intervention of different medical specialties. When vertigo is associated with other specific symptoms or signs, a differential diagnosis may be easier. Conversely, if the patient exhibits isolated vertigo, the diagnostic approach becomes complex and only through a detailed history, a complete physical examination and specific tests the clinician can reach the correct diagnosis. Approach to vertigo in ED is considerably different in children and adults due to the differences in incidence and prevalence of the various c…

Adultdifferentialemergency servicediagnosisEmergency departmentadulthood; childhood; emergency department; vertigo; adult; algorithms; child; diagnosis differential; humans; physical examination; emergency service; hospitalGeneral MedicineAdulthoodChildhoodDiagnosis DifferentialVertigoHumanshospitalChildEmergency Service HospitalPhysical ExaminationAlgorithmsItalian journal of pediatrics
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