Search results for " Variation"

showing 10 items of 1712 documents

Standardized rater training for the Hamilton Depression Rating Scale (HAMD-17) in psychiatric novices.

2003

Abstract Background: Despite the long and widespread use of the Hamilton Depression Rating Scale (HAMD), standardized reliability studies in inexperienced raters are not available. Methods: Rater training was carried using three videotaped interviews with depressed patients in 21 psychiatric novices who had negligible previous experience with the HAMD. Chance-corrected coefficients of rating agreement with expert standards (weighted κ , ICC) were computed for single items and the total score of the HAMD. Results: The results demonstrate sufficiently high interrater reliability ( κ >0.60) for most of the HAMD items and the total score (ICC=0.57–0.73). Three standardized HAMD training session…

AdultMaleObserver VariationPsychiatric Status Rating ScalesPsychiatrymedicine.medical_specialtyPsychometricsItem analysisDepressionTeachingRater trainingPsychiatry and Mental healthClinical PsychologyInter-rater reliabilityRating scaleSurveys and QuestionnairesHamdmedicineHumansGeneralizability theoryFemalePsychologyPsychiatryDepression (differential diagnoses)Journal of affective disorders
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Variation in genomic landscape of clear cell renal cell carcinoma across Europe

2014

The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and …

AdultMaleOncogene Proteins FusionRNA SplicingGeneral Physics and AstronomyBiologymedicine.disease_causeGeneral Biochemistry Genetics and Molecular BiologyCohort StudiesTranscriptomePhosphatidylinositol 3-KinasesMutation RatemedicineHumansEpigeneticsCarcinoma Renal CellAgedAged 80 and overGeneticsFocal AdhesionsMutationMultidisciplinaryGenome HumanGene Expression ProfilingGenetic VariationGenomicsSequence Analysis DNAGeneral ChemistryMiddle Agedmedicine.diseaseHuman genetics3. Good healthEuropeGene Expression Regulation NeoplasticGene expression profilingClear cell renal cell carcinomaMutationFemaleCarcinogenesisClear cellSignal TransductionNature Communications
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Deep pain thresholds in the distal limbs of healthy human subjects.

2003

Pressure pain thresholds (PPTs) in distal limbs have been under-investigated despite their potential clinical importance. Therefore, we compared PPTs over nail bed, bony prominences, and muscle in distal parts of upper and lower limbs. We investigated 12 healthy subjects using three handheld devices: a spring-loaded, analogue pressure threshold meter (PTM) with two operating ranges, and an electronic Algometer. PPTs were determined with three series of ascending stimulus intensities with a ramp of about 50 kPa/s. PPTs were normally distributed in logarithmic space. PPTs over different tissues varied significantly (ANOVA, p0.001): mean thresholds and 95% confidence intervals were 615 kPa (26…

AdultMalePain ThresholdPressure painStimulus (physiology)Functional LateralityReference ValuesPhysical StimulationPressureMedicineHumansDeep painPeripheral NervesMuscle SkeletalPain MeasurementObserver Variationbusiness.industryFootHealthy subjectsNociceptorsExtremitiesAnatomyMiddle AgedHandConfidence intervalAnesthesiology and Pain MedicineNociceptionFemaleAnalysis of varianceTrunk musclebusinessEuropean journal of pain (London, England)
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Study of microcirculation in oral lichen planus by video-capillaroscopy.

2007

Objective The aim of this study was to evaluate “in vivo” the oral microcirculatory characteristics in patients with oral lichen planus (OLP) and to discover any differences in microcirculation in comparison with healthy patients. Study design Twenty patients with established diagnosis of OLP and 20 healthy patients were examined in our laboratory by means of contact optical probe videocapillaroscopy. The examined areas for each patient were the right and the left buccal mucosae. Capillary density and total capillary diameter, as well as afferent and efferent loop diameter were studied; the discovery of characteristic (tortuous, branched) loops was also investigated. Results The results wer…

AdultMalePathologymedicine.medical_specialtyAngiogenesisEfferentStatistics NonparametricMicrocirculationMicroscopic AngioscopyLesionstomatognathic systemIn vivoOral and maxillofacial pathologymedicineHumansGeneral DentistryAgedAged 80 and overObserver VariationMicroscopy Videobusiness.industryMicrocirculationMouth MucosaBuccal administrationMiddle Agedmedicine.diseasestomatognathic diseasesOtorhinolaryngologyCase-Control StudiesSurgeryOral lichen planusFemaleOral Surgerymedicine.symptombusinessLichen Planus OralOral surgery, oral medicine, oral pathology, oral radiology, and endodontics
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Feasibility, reproducibility, and reliability for the T*2 iron evaluation at 3 T in comparison with 1.5 T

2012

This study aimed to determine the feasibility, reproducibility, and reliability of the multiecho T * 2 Magnetic resonance imaging technique at 3 T for myocardial and liver iron burden quantification and the relationship between T * 2 values at 3 and 1.5 T. Thirty-eight transfusion-dependent patients and 20 healthy subjects were studied. Cardiac segmental and global T * 2 values were calculated after developing a correction map to compensate the artifactual T * 2 variations. The hepatic T * 2 value was determined over a region of interest. The intraoperator and interoperator reproducibility for T * 2 measurements at 3 T was good. A linear relationship was found between patients' R (1000/T * …

AdultMalePathologymedicine.medical_specialtyheartliverSensitivity and SpecificityRegion of interestmedicineHumansT*2 magnetic resonanceLiver ironRadiology Nuclear Medicine and imaging3 Tiron overloadReliability (statistics)Observer VariationReproducibilitymedicine.diagnostic_testbusiness.industryHealthy subjectsReproducibility of ResultsMagnetic resonance imagingImage EnhancementMagnetic Resonance ImagingLinear relationshipThalassemiaFemalebusinessNuclear medicineObserver variationMagnetic Resonance in Medicine
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One-year persistence of individual gait patterns identified in a follow-up study – A call for individualised diagnose and therapy

2017

Abstract Although a hunch about the individuality of human movements generally exists, differences in gait patterns between individuals are often neglected. To date, only a few studies distinguished individual gait patterns in terms of uniqueness and emphasised the relevance of individualised diagnoses and therapy. However, small sample sizes have been a limitation on identifying subjects based on gait patterns, and little is known about the permanence of subject-specific characteristics over time. The purpose of this study was (1) to prove the uniqueness of individual gait patterns within a larger sample and (2) to prove the long-term permanence of individual gait patterns. A sample of 128…

AdultMalePersistence (psychology)medicine.medical_specialtyBiophysicsSample (statistics)Barefoot03 medical and health sciences0302 clinical medicineGait (human)Physical medicine and rehabilitationmedicineHumansOrthopedics and Sports MedicineForce platformMedical diagnosisGround reaction forceGaitRehabilitation030229 sport sciencesHealthy VolunteersBiomechanical PhenomenaPreferred walking speedBiological Variation PopulationFemalePsychologyhuman activitiesSocial psychology030217 neurology & neurosurgeryFollow-Up StudiesGait & Posture
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Reproducibility of the WHO histological criteria for the diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms

2014

This study, performed on behalf of the Italian Registry of Thrombocythaemias (Registro Italiano Trombocitemie), aimed to test the inter-observer reproducibility of the histological parameters proposed by the WHO classification for the diagnosis of the Philadelphia chromosome-negative myeloproliferative neoplasms. A series of 103 bone marrow biopsy samples of Philadelphia chromosome-negative myeloproliferative neoplasms consecutively collected in 2004 were classified according to the WHO criteria as follows: essential thrombocythaemia (n=34), primary myelofibrosis (n=44) and polycythaemia vera (n=25). Two independent groups of pathologists reviewed the bone marrow biopsies. The first group w…

AdultMalePolycythaemiaPathologymedicine.medical_specialtymyeloproliferative neoplasmPhiladelphia Chromosome Negativeessential thrombocythaemiaWorld Health Organizationpolycythaemia veramyeloproliferative neoplasmsPathology and Forensic MedicineYoung AdultCohen's kappaBone Marrowhemic and lymphatic diseasesBiopsyHumansMedicinePhiladelphia ChromosomeMyelofibrosisPolycythemia VeraAgedAged 80 and overObserver VariationWHO classificationmedicine.diagnostic_testbusiness.industryprimary myelofibrosiReproducibility of ResultsMiddle Agedmedicine.diseaseprimary myelofibrosisFemaleWho criteriaDifferential diagnosisessential thrombocythaemia; myeloproliferative neoplasms; primary myelofibrosis; polycythaemia vera; WHO classificationbusinessWho classificationThrombocythemia EssentialModern Pathology
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HLA Class I and Class II Polymorphism in Three Sicilian Populations

2007

Two human leukocyte antigen (HLA) class I loci (HLA-A and HLA-B) and one class II locus (HLA-DR) were typed at the DNA level in the Sicilian population. Study participants were of Sicilian origin (183 for class I loci and 260 for class II loci) and live in three towns, chosen on the basis of geographic position and different historical events. These towns are Sciacca (southwest Sicily, located at sea level, conquered by Arabs in a.d. 814), Piana degli Albanesi (northwest Sicily, 720 m above sea level, has maintained religious, cultural, and linguistic peculiarities traced to Albanian settlement in 1488), and Troina (northeast Sicily, 1,120 m above sea level, known as the first settlement of…

AdultMalePopulationLocus (genetics)Human leukocyte antigenLinkage DisequilibriumGene FrequencyGeneticsHumansAlleleeducationSicilyAllele frequencyAllelesGenetics (clinical)Ecology Evolution Behavior and Systematicseducation.field_of_studyPolymorphism GeneticHLA-A AntigensGenetic VariationHLA-DR Antigenslanguage.human_languageGenetics PopulationHaplotypesHLA-B AntigensChild PreschoolGenetic structurelanguageEthnologyFemalePhoenicianDNA typing haplotype frequency HLA polymorphism sicilian populationSicilianHLA-DRB1 ChainsDemographyHuman Biology
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Influence of dental occlusion conditions on plantar pressure distribution during standing and walking – A gender perspective

2021

Abstract The aim of this study was to investigate gender-specific influences of different symmetric and asymmetric occlusion conditions on postural control during standing and walking. The study involved 59 healthy adult volunteers (41 f/19 m) aged between 22 and 53 years (30.2 ± 6.3 years). Postural control measurements were carried out using a pressure plate by measuring plantar pressure distribution during standing and walking test conditions. Seven different occlusion conditions were tested. Prior to a MANOVA model analysis, the relationship between the two test conditions were checked using a factor analysis with a varying number of factors (between 2 and 10). The plantar pressure dist…

AdultMalePressure plateCoefficient of variation0206 medical engineeringBiomedical EngineeringBiophysicsWalking02 engineering and technologyPostural controlDental OcclusionYoung Adult03 medical and health sciences0302 clinical medicineMultivariate analysis of varianceOcclusionPressureHumansMedicinePostural BalanceOrthodonticsFootbusiness.industryDental occlusionPlantar pressureMiddle Aged020601 biomedical engineeringSplintsFemalebusiness030217 neurology & neurosurgeryMedical Engineering & Physics
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Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

2009

Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…

AdultMaleProbandmedicine.medical_specialtyCandidate geneEndocrinology Diabetes and MetabolismMolecular Sequence DataClinical BiochemistryNonsense mutationContext (language use)macromolecular substances030204 cardiovascular system & hematologyBiologyBiochemistry03 medical and health sciencesExon0302 clinical medicineEndocrinologyInternal medicinemedicineHumansTriglyceridesHypolipidemic Agents030304 developmental biologyHypertriglyceridemia0303 health sciencesLipoprotein lipaseBase Sequencedigestive oral and skin physiologyBiochemistry (medical)Hypertriglyceridemianutritional and metabolic diseasesGenetic VariationLMF1 gene; nonsense mutation; hypertriglyceridemiaLMF1 hypertriglyceridemiamedicine.disease3. Good healthLipoprotein LipaseEndocrinologyCodon NonsenseOriginal Articlelipids (amino acids peptides and proteins)Hepatic lipaseGemfibrozil
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