Search results for "screening"

showing 10 items of 1150 documents

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutat…

1994

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.

Malemedicine.medical_specialtyHeterozygoteX ChromosomeMucopolysaccharidosisDNA Mutational AnalysisPrenatal diagnosisIduronate SulfataseGene mutationBiologyPregnancyInternal medicinePrenatal DiagnosismedicineMissense mutationHumansPoint MutationMucopolysaccharidosis type IIGenetics (clinical)AllelesSex Chromosome AberrationsMucopolysaccharidosis IIGeneticsPoint mutationGenetic Carrier ScreeningObstetrics and GynecologyHunter syndromeDNAmedicine.diseaseFetal DiseasesEndocrinologyKaryotypingFemaleKlinefelter syndromePrenatal diagnosis
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Feasibility and utility of a cognitive screening for risk stratification in hospitalized older patients

2017

OBJECTIVES To determine whether the Mini-Cog can be applied by nursing staff to hospitalized elderly patients for cognitive impairment associated risk stratification. METHODS This explorative prospective multicenter cohort study was carried out among 2522 patients aged 70 and older, hospitalized due to physical illness in eight hospitals in Rhineland-Palatinate, Germany. All patients were asked to conduct the Mini-Cog at the day of admission and were clustered into low-performance, intermediate-performance, and good-performance categories by trained nursing staff and two experienced geronto-psychiatrists as gold standard. Complications in the course of the treatment were monitored. RESULTS …

Malemedicine.medical_specialtyLogistic regressionCohort Studies03 medical and health sciencesCognition0302 clinical medicineGermanyInternal medicineOdds RatioHumansMass ScreeningMedicineDementiaCognitive DysfunctionProspective StudiesAgedAged 80 and overInpatients030214 geriatricsbusiness.industryGold standardArea under the curveOdds ratioMental Status and Dementia Testsmedicine.diseaseHospitalsHospitalizationPsychiatry and Mental healthArea Under CurveRisk stratificationFeasibility StudiesFemaleGeriatrics and GerontologyComplicationbusinessCohort studyInternational Journal of Geriatric Psychiatry
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Patterns of recurrence of obstructing colon cancers after surgery for cure: a population-based study.

2013

Aim Little is known about patterns of recurrence in obstructing colon cancer (OCC) at a population level. The aim of this study was to determine the risk of recurrence following potentially curative surgery in OCC compared with that in uncomplicated colon cancer (CC). Method Data were obtained from the population-based digestive cancer registry of Burgundy (France). Local and distant failure rates were calculated using actuarial methods. A multivariate analysis was performed using a Cox model. Results Obstructing colon cancer represented 8.5% of all colon cancers resected with curative intent (n = 3375). The 5-year cumulative local recurrence rate was 14.2% for OCC and 7.6% for nonobstructi…

Malemedicine.medical_specialtyMultivariate analysisColorectal cancerPopulationDisease-Free SurvivalColonic DiseasesRisk FactorsmedicineHumansRegistriesRisk factoreducationMass screeningAgedProportional Hazards Modelseducation.field_of_studybusiness.industryProportional hazards modelHazard ratioCarcinomaGastroenterologyAge FactorsMiddle Agedmedicine.diseasePrognosisSurgeryRelative riskColonic NeoplasmsMultivariate AnalysisFemaleNeoplasm Recurrence LocalbusinessIntestinal ObstructionColorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
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Prelingual sensorineural hearing loss and infants at risk: Western Sicily report.

2013

Objective: To evaluate independent etiologic factor associated with sensorineural hearing loss (SNHL) in newborn at risk; to study the role of their interaction especially in NICU infants who present often multiple risk factors for SNHL. Methods: The main risk factors for SNHL reported by JCIH 2007 were evaluated on 508 infant at risk ranging from 4 to 20 weeks of life, transferred to the Audiology Department of Palermo from the main births centers of Western Sicily. After a global audiological assessment, performed with TEOAE, tympanometry and ABR, the prevalence and the effect of risk factors was statistically studied through univariate and multivariate analysis on the total population (n…

Malemedicine.medical_specialtyMultivariate analysisHearing Loss SensorineuralAudiologyLogistic regressionMultiple risk factorsNeonatal ScreeningRisk FactorsIntensive Care Units Neonatalotorhinolaryngologic diseasesmedicinePrevalenceHumansFamily historySicilyInfants at risk Neonatal hearing screening Sensorineural hearing loss NICU infantsAbsolute threshold of hearingmedicine.diagnostic_testbusiness.industryInfant NewbornInfantGeneral MedicineTympanometrymedicine.diseaseSettore MED/32 - AudiologiaOtorhinolaryngologyAcoustic Impedance TestsPediatrics Perinatology and Child HealthCohortSensorineural hearing lossFemalebusinessInternational journal of pediatric otorhinolaryngology
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Immune-unreactive urinary albumin as a predictor of cardiovascular events: The Hortega Study

2019

Background: We aimed to determine if immune-unreactive albumin excretion (IURAE) is associated with cardiovascular (CV) events in a representative sample of a general population from Spain.Methods: We included 1297 subjects (mean age ± standard error 48.0 ± 0.2 years, 48% females), who participated in the Hortega Follow-Up Study. The primary endpoint was incidence of fatal and non-fatal CV events. Urinary albumin excretion (UAE) was measured in spot voided urine, frozen at -80°C, by immunonephelometry [immune-reactive albumin excretion (IRAE)] and by high-performance liquid chromatography (HPLC) [total albumin excretion (AE)]. IURAE was calculated as the difference between HPLC measurements…

Malemedicine.medical_specialtyPopulation030232 urology & nephrologyUrineUrinalysis030204 cardiovascular system & hematologyGastroenterologyCohort StudiesExcretion03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePredictive Value of TestsAlbuminsInternal medicinemedicineAlbuminuriaHumansMass ScreeningeducationTransplantationeducation.field_of_studyCreatininebusiness.industryProportional hazards modelIncidenceIncidence (epidemiology)Hazard ratioMiddle AgedConfidence intervalchemistryCardiovascular DiseasesSpainNephrologyFemalebusinessBiomarkersFollow-Up Studies
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Relationship Between Cognitive-Behavioral Impairment and Clinical and Functional Parameters in ALS and Reliability of the Edinburgh Cognitive and Beh…

2019

Background Although it is widely recognized that a high percentage of individuals with amyotrophic lateral sclerosis (ALS) have cognitive and behavioral impairment, the associated clinical and functional parameters remain unknown. ALS is typically assessed via screening tests, such as the Edinburgh Cognitive and Behavioural ALS Screen (ECAS). Objective To investigate the relationship between cognitive-behavioral impairment and other clinical and functional parameters and to compare the assessment results from a set of standardized neuropsychological tests with those from the ECAS. Methods Forty individuals with ALS participated in the study. We assessed attention, memory and learning abilit…

Malemedicine.medical_specialtyScreening testCognitive NeuroscienceNeuropsychological TestsAudiology050105 experimental psychology03 medical and health sciences0302 clinical medicinemedicineHumansCognitive Dysfunction0501 psychology and cognitive sciencesTest selectionAmyotrophic lateral sclerosisSet (psychology)Reliability (statistics)business.industryAmyotrophic Lateral Sclerosis05 social sciencesNeuropsychologyCognitionGeneral MedicineMiddle Agedmedicine.diseasePsychiatry and Mental healthNeuropsychology and Physiological PsychologyFemaleCognition Disordersbusiness030217 neurology & neurosurgeryCognitive and Behavioral Neurology
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Biological and prognostic differences between symptomatic colorectal carcinomas and those detected by screening

2019

REDISSEC-CARESS/CCR group.

Malemedicine.medical_specialtySurvivalColorectal cancerPerineural invasionAsymptomaticGastroenterology03 medical and health sciences0302 clinical medicineInternal medicineBiomarkers TumorHumansMass ScreeningMedicineProspective StudiesColorectal carcinomas030212 general & internal medicineStage (cooking)Prospective cohort studyEarly Detection of CancerAgedNeoplasm StagingBiological markersbusiness.industryIncidenceGeneral MedicineMiddle Agedmedicine.diseaseImmunohistochemistrySurvival RateOncologySpain030220 oncology & carcinogenesisCohortScreeningT-stageFemaleSurgerymedicine.symptomColorectal NeoplasmsbusinessBody mass indexFollow-Up StudiesEuropean Journal of Surgical Oncology
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Computer-Aided Detection and diagnosis for prostate cancer based on mono and multi-parametric MRI: A review

2015

Prostate cancer is the second most diagnosed cancer of men all over the world. In the last few decades, new imaging techniques based on Magnetic Resonance Imaging (MRI) have been developed to improve diagnosis. In practise, diagnosis can be affected by multiple factors such as observer variability and visibility and complexity of the lesions. In this regard, computer-aided detection and computer-aided diagnosis systems have been designed to help radiologists in their clinical practice. Research on computer-aided systems specifically focused for prostate cancer is a young technology and has been part of a dynamic field of research for the last 10years. This survey aims to provide a comprehen…

Malemedicine.medical_specialtyTime FactorsHealth InformaticsCAD[ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processingProstate cancerImage Processing Computer-AssistedMedicineHumansMass ScreeningMedical physicsDiagnosis Computer-AssistedObserver VariationMulti parametricmedicine.diagnostic_testbusiness.industryCarcinomaProstatic NeoplasmsReproducibility of ResultsMagnetic resonance imagingmedicine.diseaseMagnetic Resonance ImagingComputer aided detection3. Good healthComputer Science ApplicationsClinical PracticeMultiple factorsComputer-aided diagnosisResearch DesignNeural Networks ComputerNeoplasm Gradingbusiness[SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processingMedical InformaticsSoftware
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Rotarod impairment: catalepsy-like screening test for antipsychotic side effects.

2009

Extrapyramidal motoric symptoms are casual side effects under antipsychotic medication. New generation antipsychotics are expected to have a reduced risk due to different receptor affinities. Here, haloperidol and the new generation antipsychotics, risperidone, amisulpride, and aripiprazole, were examined with both catalepsy test and rotarod performance test to screen for their usability in mice. Mice treated with haloperidol, risperidone, and aripiprazole showed dose and time-dependent impairment. Amisulpride-treated mice showed no signs of catalepsy. Catalepsy test and rotarod performance test were useful methods to detect side effects of both generation antipsychotics. Catalepsy test pro…

Malemedicine.medical_specialtyTime FactorsScreening testmedicine.medical_treatmentStatistics as TopicDrug Evaluation PreclinicalCatalepsyPharmacologyMotor ActivityRotarod performance testMiceBasal Ganglia DiseasesmedicineHaloperidolAnimalsAmisulprideAntipsychoticPsychiatryFreezing Reaction CatalepticRisperidoneDose-Response Relationship DrugGeneral NeuroscienceGeneral Medicinemedicine.diseaseDisease Models AnimalRotarod Performance TestAripiprazolePsychologymedicine.drugAntipsychotic AgentsThe International journal of neuroscience
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Symptoms of depression and anxiety predict mortality in patients undergoing oral anticoagulation: Results from the thrombEVAL study program

2015

Abstract Background/objectives Depression and anxiety are highly prevalent in cardiovascular patients. Therefore, we examined whether the 4-item Patient Health Questionnaire (PHQ-4, measuring symptoms of depression and anxiety) predicts all-cause mortality in outpatients with long-term oral anticoagulation (OAC). Methods The sample comprised n=1384 outpatients from a regular medical care setting receiving long-term OAC with vitamin K antagonists. At baseline, symptoms of anxiety and depression were assessed with the PHQ-4 and the past medical history was taken. The outcome was all-cause mortality in the 24month observation period. The median follow-up time was 13.3months. Results N=191 pati…

Malemedicine.medical_specialtyVitamin KSickness Impact ProfileSurveys and QuestionnairesInternal medicinemedicineHumansMass ScreeningMedical historyProspective StudiesScreening proceduresDepression (differential diagnoses)AgedAged 80 and overDepressive DisorderPast medical historybusiness.industryMortality rateHazard ratioAnticoagulantsMiddle AgedAnxiety DisordersPatient Health QuestionnaireCardiovascular DiseasesPhysical therapyAnxietyFemalemedicine.symptomCardiology and Cardiovascular MedicinebusinessInternational Journal of Cardiology
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