Search results for "Informatics"

showing 10 items of 2542 documents

Validity, reliability, and sensitivity to motor impairment severity of a multi-touch app designed to assess hand mobility, coordination, and function…

2021

[EN] Background: The assessment of upper-limb motor impairments after stroke is usually performed using clinical scales and tests, which may lack accuracy and specificity and be biased. Although some instruments exist that are capable of evaluating hand functions and grasping during functional tasks, hand mobility and dexterity are generally either not specifically considered during clinical assessments or these examinations lack accuracy. This study aimed to determine the convergent validity, reliability, and sensitivity to impairment severity after a stroke of a dedicated, multi-touch app, named the Hand Assessment Test. Methods: The hand mobility, coordination, and function of 88 individ…

AdultMale030506 rehabilitationmedicine.medical_specialtyNeurologyHealth InformaticsNeurosciences. Biological psychiatry. NeuropsychiatryAssessmentFingers03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationTEORIA DE LA SEÑAL Y COMUNICACIONESMedicineHumansSensitivity (control systems)Upper-limbMulti-touch technologyStrokeReliability (statistics)Agedbusiness.industryResearchRehabilitationStroke RehabilitationMulti-touchReproducibility of ResultsINGENIERIA TELEMATICAMiddle Agedmedicine.diseaseHandMobile ApplicationsTest (assessment)StrokeStandard errorConvergent validityMotor SkillsFemale0305 other medical sciencebusinessApp030217 neurology & neurosurgeryRC321-571Journal of NeuroEngineering and Rehabilitation
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Similarities and differences between eating disorders and obese patients in a virtual environment for normalizing eating patterns.

2016

Virtual reality has demonstrated promising results in the treatment of eating disorders (ED); however, few studies have examined its usefulness in treating obesity. The aim of this study was to compare ED and obese patients on their reality judgment of a virtual environment (VE) designed to normalize their eating pattern. A second objective was to study which variables predicted the reality of the experience of eating a virtual forbidden-fattening food. ED patients, obese patients, and a non-clinical group (N = 62) experienced a non-immersive VE, and then completed reality judgment and presence measures. All participants rated the VE with similar scores for quality, interaction, engagement,…

AdultMale050103 clinical psychology020205 medical informaticsAdolescentlcsh:RC435-571Ecological validityEmotions02 engineering and technologyVirtual realitycomputer.software_genreDevelopmental psychologyFeeding and Eating DisordersEatingJudgmentUser-Computer InterfaceYoung Adultlcsh:Psychiatry0202 electrical engineering electronic engineering information engineeringmedicineHumans0501 psychology and cognitive sciencesComputer SimulationObesityYoung adultdigestive oral and skin physiology05 social sciencesMiddle Agedmedicine.diseaseObesityPsychiatry and Mental healthClinical PsychologyEating disordersVirtual machineFoodPhysical spaceFemalePsychologyAttributioncomputerComprehensive psychiatry
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Negative and Positive Affect Regulation in a Transdiagnostic Internet-Based Protocol for Emotional Disorders: Randomized Controlled Trial

2021

Background Emotional disorders (EDs) are among the most prevalent mental disorders. Existing evidence-based psychological treatments are not sufficient to reduce the disease burden of mental disorders. It is therefore essential to implement innovative solutions to achieve a successful dissemination of psychological treatment protocols, and in this regard, the use of information and communication technologies such as the internet can be very useful. Furthermore, the literature suggests that not everyone with an ED receives the appropriate treatment. This situation has led to the development of new intervention proposals based on the transdiagnostic perspective, which attempts to address the…

AdultMale050103 clinical psychologyemotion regulationAdolescentBeck Anxiety InventoryEmotionsPsychological interventionHealth InformaticsTeràpia de la conductalcsh:Computer applications to medicine. Medical informaticsNegative affectivitylaw.invention03 medical and health sciencesYoung Adult0302 clinical medicineRandomized controlled triallawmedicineHumans0501 psychology and cognitive sciencesAgedOriginal Paperlcsh:Public aspects of medicineMental Disorders05 social sciencesBeck Depression Inventorylcsh:RA1-1270Middle AgedNeuroticismTelemedicine030227 psychiatrynegative affectivityAnsietatAffectTreatment OutcomePositive affectivitytransdiagnosticQuality of Lifeemotional disordersAnxietylcsh:R858-859.7positive affectivityFemaleinternetmedicine.symptomPsychologyInternet-Based InterventionClinical psychology
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Corrigendum to “Short-term changes in light distortion in orthokeratology subjects"

2015

Artigo completo publicado na revista "BioMed Research International, (2015), 1-7" e disponível no RepositóriUM em: http://hdl.handle.net/1822/33375

AdultMaleAdolescentLightmedicine.medical_treatmentVisual AcuityLentes de contactolcsh:MedicineBioinformaticsGeneral Biochemistry Genetics and Molecular BiologyContrast SensitivityCorneaYoung AdultDistortionMyopiamedicineHumansÓpticaScience & TechnologyGeneral Immunology and Microbiologybusiness.industrylcsh:ROrthokeratologyCorneal TopographyGeneral MedicineRefractive ErrorsTerm (time)OptometryFemaleCorrigendumbusinessOrthokeratologic Procedures
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The gene expression profile of cumulus cells reveals altered pathways in patients with endometriosis

2014

PURPOSE: The objective of this experimental study was to compare the global gene expression profile of CC of mature oocytes in 18 patients with severe endometriosis and CC in 18 control patients affected by a severe male factor. METHODS: For each group, the CC were pooled, RNA was extracted and a microarray performed. For validating the microarray, a quantitative real-time PCR was performed in the CC of an independent set of patients with endometriosis (n = 5) and controls (n = 7). RESULTS: 595 differentially expressed genes (320 down-regulated, 275 up-regulated, p < 0.05, fold change ≥1.5) were identified. The most significant changes were observed in genes involved in the chemokine signal…

AdultMaleAdolescentMicroarrayEndometriosisEndometriosisDown-Regulationmacromolecular substancesBiologyBioinformaticsTranscriptomeAndrologyYoung AdultDownregulation and upregulationSettore BIO/13 - Biologia ApplicataGene expressionGeneticsmedicineHumansGenetics (clinical)Cumulus CellsMicroarray analysis techniquesGene Expression Profilingmusculoskeletal neural and ocular physiologygene expression profile cumulus cellObstetrics and GynecologyGeneral Medicinegene expression profile cumulus cells; microarray; EndometriosisMicroarray Analysismedicine.diseaseUp-RegulationGene expression profilingReproductive Physiology and Diseasenervous systemReproductive MedicineCase-Control StudiesOocytesFemaleSignal transductionTranscriptomemicroarraySignal TransductionDevelopmental Biology
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Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

2013

In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…

AdultMaleAdolescentX-linked intellectual disabilityGenetic counselingNonsense mutationNeuropsychological TestsBioinformaticsYoung AdultFatal OutcomeGenes X-LinkedIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansHRASChildGenetics (clinical)GeneticsMassive parallel sequencingAcrocyanosisbusiness.industryBrainFaciesmedicine.diseaseMagnetic Resonance ImagingPedigreePhenotypeMutation (genetic algorithm)MutationbusinessAcyltransferasesAmerican journal of medical genetics. Part A
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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

2015

International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including…

AdultMaleAdolescent[SDV]Life Sciences [q-bio]PenetranceBioinformaticsPolymorphism Single NucleotideArticlePregnancyGRIK2Basic Helix-Loop-Helix Transcription FactorsGeneticsHumansSNPObesityChildGeneGenetic Association StudiesGenetics (clinical)GeneticsComparative Genomic Hybridizationbiology[ SDV ] Life Sciences [q-bio]InfantPenetrancePhenotypeRepressor ProteinsChild PreschoolAborted FetusSIM1biology.proteinChromosomes Human Pair 6FemaleHaploinsufficiencyPrader-Willi SyndromeComparative genomic hybridization
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Prediction of the hemoglobin level in hemodialysis patients using machine learning techniques

2013

HighlightsDifferent prediction algorithms were used to predict Hb levels in CRF patients.Prediction errors in the validation cohorts of patients were around 0.6g/dl.Difficulty to obtain lower errors due to the measuring machine precision (0.2g/dl).Relevance analysis of features have been applied for each predictor. Patients who suffer from chronic renal failure (CRF) tend to suffer from an associated anemia as well. Therefore, it is essential to know the hemoglobin (Hb) levels in these patients. The aim of this paper is to predict the hemoglobin (Hb) value using a database of European hemodialysis patients provided by Fresenius Medical Care (FMC) for improving the treatment of this kind of …

AdultMaleAdolescentmedicine.medical_treatmentHealth InformaticsMachine learningcomputer.software_genreDisease clusterSensitivity and SpecificityHemoglobinsYoung AdultArtificial IntelligenceRenal DialysismedicineHumansComputer SimulationCluster analysisErythropoietinAgedAged 80 and overDose-Response Relationship DrugArtificial neural networkbusiness.industryModels CardiovascularLinear modelReproducibility of ResultsAnemiaMiddle AgedRegressionDrug Therapy Computer-AssistedComputer Science ApplicationsSupport vector machineTreatment OutcomeAdaptive resonance theoryFemaleHemodialysisArtificial intelligenceDrug MonitoringbusinesscomputerAlgorithmsBiomarkersSoftwareComputer Methods and Programs in Biomedicine
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Biomechanical implications of excessive endograft protrusion into the aortic arch after thoracic endovascular repair

2015

Endografts placed in the aorta for thoracic endovascular aortic repair (TEVAR) may determine malappositioning to the lesser curvature of the aortic wall, thus resulting in a devastating complication known as endograft collapse. This premature device failure commonly occurs in young individuals after TEVAR for traumatic aortic injuries as a result of applications outside the physical conditions for which the endograft was designed. In this study, an experimentally-calibrated fluid-structure interaction (FSI) model was developed to assess the hemodynamic and stress/strain distributions acting on the excessive protrusion extension (PE) of endografts deployed in four young patients underwent TE…

AdultMaleAortic archmedicine.medical_specialtyHemodynamicsAorta ThoracicHealth InformaticsProsthesis DesignBlood Vessel Prosthesis ImplantationYoung AdultAortic aneurysmBlood vessel prosthesismedicine.arteryInternal medicineFluid-structure interactionStentHumansMedicineThoracic aortaStent-graftHemodynamicEndovascular ProcedureAortaAortic Aneurysm Thoracicbusiness.industryEndovascular ProceduresHemodynamicsmedicine.diseaseCurvatures of the stomachBlood Vessel ProsthesisComputer Science ApplicationsSurgeryAlgorithmRadiographyDescending aortaCalibrationCardiologyEndograft collapse/infoldingStentsStress MechanicalThoracic endovascular aortic repair (TEVAR)businessAlgorithmsBird-beakHumanComputers in Biology and Medicine
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1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

2012

12 páginas, 6 figuras, 1 tabla.-- et al.

AdultMaleCancer ResearchCandidate geneAdolescentDNA Copy Number VariationsUbiquitin-Protein Ligasesclinical outcomeBone NeoplasmsSarcoma EwingBiologyBioinformaticsPolymorphism Single NucleotideTranscriptomeIn vivoCell Line TumorGeneticsmedicineHumansChildMolecular BiologymicroarraysAgedCell ProliferationAged 80 and overCell CycleComputational BiologyInfantNuclear ProteinsMiddle Agedmedicine.disease1q GainIn vitroChromosomes Human Pair 1Child PreschoolCancer researchImmunohistochemistryFemaleCDT2SarcomaDNA microarrayEwing sarcomaComparative genomic hybridization
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