Search results for "uci"

showing 10 items of 5317 documents

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

2007

Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…

AdultMaleHealth aging / healthy living [IGMD 5]Eye DiseasesGenetics and epigenetic pathways of disease [NCMLS 6]TMEM67Molecular Sequence DataMembrane transport and intracellular motility [NCMLS 5]Biologymedicine.disease_causeJoubert syndromeCell LineGenomic disorders and inherited multi-system disorders [IGMD 3]NephronophthisisCerebellar DiseasesGeneticsmedicinePerception and Action [DCN 1]Basal bodyAnimalsHumansNeurosensory disorders [UMCN 3.3]CiliaAdaptor Proteins Signal TransducingRenal disorder [IGMD 9]GeneticsMutationCiliumCiliary transition zoneProteinsSyndromemedicine.diseasePedigreeRatsCytoskeletal ProteinsGenetic defects of metabolism [UMCN 5.1]RPGRIP1LFemaleKidney DiseasesFunctional Neurogenomics [DCN 2]Ciliary Motility Disorders
researchProduct

External Validation of Nomogram Predicting the Probability of Specimen-Confined Disease (pT2-3a, R0N0) in Patients Undergoing Radical Prostatectomy a…

2014

Introduction: Before radical prostatectomy (RP), a nomogram [Briganti et al., Eur Urol 2012;61:584-592] permits to measure the probability of specimen-confined (SC) disease (pT2-pT3a, node negative with negative margins) in high-risk prostate cancer (PCa). The aim of our study was to perform an external validation of this nomogram. Materials and Methods: Between 2007 and 2011, 623 patients with high-risk PCa (prostate-specific antigen (PSA) >20 ng/ml and/or biopsy Gleason score ≥8 and/or clinical stage T3) underwent RP and pelvic lymph node dissection at tertiary referral centers. Multivariable logistic regression models predicting the presence of SC disease were built in; we then used the …

AdultMaleHigh-risk prostate cancermedicine.medical_specialtyUrologymedicine.medical_treatmentHigh-risk prostate cancer; Nomogram; Radical prostatectomyUrologyReproducibility of ResultRadical prostatectomy; High-risk prostate cancer; Nomogramurologic and male genital diseasesSensitivity and SpecificityRegression AnalysiNomogramCohort StudiesRisk FactorsmedicineHumansIn patientMultivariate AnalysiLymph nodeAgedProbabilityAged 80 and overProstatectomyProstatectomybusiness.industryRisk FactorExternal validationProstatic NeoplasmsReproducibility of ResultsMiddle AgedProstate-Specific AntigenNomogramRadical prostatectomyNomogramsProstate-specific antigenDissectionmedicine.anatomical_structureROC CurveProstatic NeoplasmCalibrationMultivariate AnalysisLymph Node ExcisionRegression AnalysisCohort StudiebusinessHuman
researchProduct

Three-dimensional distribution of trabecular bone density and cortical thickness in the distal humerus

2008

One major barrier to osteosynthesis in distal humeral fractures is poor bone quality. This study was an attempt to measure the bone quality in the distal humerus.We measured the distribution of total bone mineral density (BMD), trabecular BMD (tBMD), and cortical thickness (CTh) in the distal humerus using peripheral quantitive computed tomography. Four slices in the infracondylar, supracondylar, and distal disphyseal regions of 25 human cadaver humeri were investigated.Total BMD decreased continuously from the distal diaphysis to the trochlea. Within the infracondylar region, the capitellum was the region of lowest tBMD and CTh (P.001). Measurements in anterior regions were higher than in …

AdultMaleHumeral FracturesSensitivity and SpecificityAbsorptiometry PhotonImaging Three-DimensionalSex FactorsBone DensityCadaverElbow JointImage Interpretation Computer-AssistedCadaverConfidence IntervalsmedicineHumansOrthopedics and Sports MedicineHumerusQuantitative computed tomographyAgedProbabilityAged 80 and overBone mineralOsteosynthesismedicine.diagnostic_testbusiness.industryAge FactorsReproducibility of ResultsImplant failureGeneral MedicineAnatomyHumerusMiddle AgedDiaphysismedicine.anatomical_structureBone TrabeculaeFemaleSurgeryDiaphysesTomography X-Ray ComputedElbow InjuriesbusinessEpiphysesJournal of Shoulder and Elbow Surgery
researchProduct

Comparison of three accelerated pulse sequences for semiquantitative myocardial perfusion imaging using sensitivity encoding incorporating temporal f…

2007

Purpose To investigate the parallel acquisition technique sensitivity encoding incorporating temporal filtering (TSENSE) with three saturation-recovery (SR) prepared pulse sequences (SR turbo fast low-angle shot [SR-TurboFLASH], SR true fast imaging with steady precession [SR-TrueFISP], and SR-prepared segmented echo-planar-imaging [SR-segEPI]) for semiquantitative first-pass myocardial perfusion imaging. Materials and Methods In blood- and tissue-equivalent phantoms the relationship between signal intensity (SI) and contrast-medium concentration was evaluated for the three pulse sequences. In volunteers, signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and normalized upslopes (N…

AdultMaleImage qualityContrast MediaImage processingSensitivity and SpecificityMyocardial perfusion imagingHeart RateImage Processing Computer-AssistedImage noiseHumansMedicineRadiology Nuclear Medicine and imagingmedicine.diagnostic_testEcho-Planar ImagingPhantoms ImagingPulse (signal processing)business.industryMyocardiumReproducibility of ResultsLinearityMagnetic resonance imagingMagnetic Resonance ImagingPerfusionLinear rangeFemalebusinessNuclear medicineBiomedical engineeringJournal of Magnetic Resonance Imaging
researchProduct

Improvement of inter-rater reliability of PANSS items and subscales by a standardized rater training.

1998

The present evaluation focused on the inter-rater reliability of single items and subscales of the Positive and Negative Syndrome Scale (PANSS) before and after a standardized rater training. The results of two independent studies comprising n=23 (study I) and n=12 (study II) psychiatrists and videotaped interviews with schizophrenic patients were analysed. Chance-corrected coefficients of rating agreement with expert standards (weighted kappa) were computed for single items and subscales of the PANSS. The results clearly demonstrate the importance of rater trainings. After three training sessions, 90% of the PANSS items reached an acceptable level of reliability (kappa(w)>0.40) in both eva…

AdultMaleInservice TrainingPsychometricsPsychometricsHealth PersonneleducationBehavioral SymptomsRater trainingbehavioral disciplines and activitiesHealth personnelHumansLongitudinal StudiesReliability (statistics)AgedObserver VariationPsychiatric Status Rating ScalesPositive and Negative Syndrome ScaleReproducibility of ResultsMiddle AgedPsychiatry and Mental healthInter-rater reliabilityPractice PsychologicalPsychiatric status rating scalesSchizophreniaFemalePsychologyKappaClinical psychologyActa psychiatrica Scandinavica
researchProduct

Intra and intersession repeatability and reliability of the S-Plate® pressure platform.

2017

Abstract Aim The aim of this study was to assess the repeatability and reliability of the S-Plate® pressure platform in a group of healthy subjects. Material and methods Forty subjects, free from physical conditions that would affect normal gait, walked along a five-meter corridor while data were recorded from the pressure platform. A total of 10 steps (five each side) were obtained as well as five static trials; the same measurements were repeated one week later. Peak and mean plantar pressures and contact area were recorded for both dynamic and static trials. Additionally, weight supported on each limb was documented during static trials. To assess intrasession and intersession repeatabil…

AdultMaleIntraclass correlationCoefficient of variationBiophysicsWalking03 medical and health sciences0302 clinical medicinePlate pressurePressureHumansOrthopedics and Sports MedicineGaitReliability (statistics)MathematicsOrthodonticsFootPlantar pressureRehabilitationHealthy subjectsReproducibility of Results030229 sport sciencesRepeatabilityBiomechanical PhenomenaNormal gaitExercise TestFemale030217 neurology & neurosurgeryGaitposture
researchProduct

Reliability, validity and responsiveness of the EQ-5D in assessing and valuing health status in patients with social phobia

2013

Abstract Objective The aim of the study was to analyse the psychometric properties of the EQ-5D in patients with social phobia. Methods We used a sample of 445 patients with social phobia with five measurement points over a 30 month period. The discriminative ability of the EQ-5D was analysed by comparing the patients’ responses with the general population and between different disease severity levels. For test-retest reliability we assessed the level of agreement in patients’ responses over time, when there was no change in the Liebowitz Social Anxiety Scale (LSAS). Construct validity was analysed by identifying correlations of the EQ-5D with more specific instruments. For responsiveness w…

AdultMaleIntraclass correlationHealth StatusPopulationLiebowitz social anxiety scaleValidityPhobic disorderYoung Adult03 medical and health sciences0302 clinical medicineEQ-5DGermanySurveys and QuestionnairesmedicineHumansddc:610030212 general & internal medicineeducationeducation.field_of_studyResearchEQ-5DPublic Health Environmental and Occupational HealthBeck Depression InventoryReproducibility of ResultsConstruct validityResponsivenessGeneral MedicineMiddle AgedReliability030227 psychiatryPhobic DisordersQuality of LifeAnxietyFemalemedicine.symptomSocial phobiaPsychologyClinical psychology
researchProduct

Transpalpebral tonometry: reliability and comparison with Goldmann applanation tonometry and palpation in healthy volunteers

2005

Background/aim: TGDc-01 is a new, portable, transpalpebral tonometry device. The aim of this study was to evaluate the reproducibility of this method, including intraobserver and interobserver deviations, and to compare the results with those of Goldmann applanation tonometry and palpation of intraocular pressure (IOP). Methods: A total of 40 eyes of 20 healthy volunteers were included. Two independent parallel observers (1 and 2) performed three replicate measurements per eye, respectively, both using TGDc01 tonometry, one observer (3) performed three replicate measurements using Goldmann applanation tonometry, and one observer (4) measured the IOP via palpation. Intraindividual deviations…

AdultMaleIntraocular pressuremedicine.medical_specialtyClinical Science - Scientific ReportsPalpationGoldmann applanation tonometryTonometry OcularCellular and Molecular NeuroscienceInterquartile rangeOphthalmologyHealthy volunteersHumansMedicineIn patientIntraocular PressureObserver VariationReproducibilityPalpationmedicine.diagnostic_testbusiness.industryReproducibility of ResultsEquipment DesignSensory SystemsOphthalmologyQuartileFemalebusinessBritish Journal of Ophthalmology
researchProduct

Single region of interest versus multislice T2* MRI approach for the quantification of hepatic iron overload.

2011

Purpose To evaluate the effectiveness of the single ROI approach for the detection of hepatic iron burden in thalassemia major (TM) patients in respect to a whole liver measurement. Materials and Methods Five transverse hepatic slices were acquired by a T2* gradient-echo sequence in 101 TM patients and 20 healthy subjects. The T2* value was calculated in a single region of interest (ROI) defined in the medium-hepatic slice. Moreover, the T2* value was extracted on each of the eight ROIs defined in the functionally independent segments. The mean hepatic T2* value was calculated. Results For patients, the mean T2* values over segments VII and VIII were significantly lower. This pattern was su…

AdultMaleIron OverloadAdolescentSensitivity and SpecificityYoung AdultImaging Three-DimensionalRegion of interestFunctionally independentImage Interpretation Computer-AssistedMedicineCutoffHumansRadiology Nuclear Medicine and imagingMultisliceHepatic ironChildMeasurement variabilitybusiness.industryLiver DiseasesWhole liverHealthy subjectsReproducibility of ResultsTransfusion ReactionMiddle AgedImage EnhancementMagnetic Resonance ImagingFemalebusinessNuclear medicineJournal of magnetic resonance imaging : JMRI
researchProduct

Improved T2* assessment in liver iron overload by magnetic resonance imaging.

2009

In the clinical MRI practice, it is common to assess liver iron overload by T2* multi-echo gradient-echo images. However, there is no full consensus about the best image analysis approach for the T2* measurements. The currently used methods involve manual drawing of a region of interest (ROI) within MR images of the liver. Evaluation of a representative liver T2* value is done by fitting an appropriate model to the signal decay within the ROIs vs. the echo time. The resulting T2* value may depend on both ROI placement and choice of the signal decay model. The aim of this study was to understand how the choice of the analysis methodology may affect the accuracy of T2* measurements. A softwar…

AdultMaleIron OverloadBiomedical EngineeringBiophysicsImage processingSignalSoftwareRegion of interestImage Processing Computer-AssistedMedicineLiver ironHumansRadiology Nuclear Medicine and imagingliver iron overloadObserver VariationReproducibilitymedicine.diagnostic_testbusiness.industrybeta-ThalassemiaReproducibility of ResultsPattern recognitionMagnetic resonance imagingMagnetic Resonance ImagingLiverData Interpretation StatisticalAutomatic segmentationFemaleArtificial intelligencebusinessNuclear medicineAlgorithmsSoftwareMagnetic resonance imaging
researchProduct