Search results for "HM"

showing 10 items of 10594 documents

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2005

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…

AchromatopsiaGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresGATED CATION CHANNELCNGB3 mutationsNonsense mutationMutantCyclic Nucleotide-Gated Cation ChannelsColor Vision DefectsGenes RecessiveLocus (genetics)Gene mutationBiologyTOTAL COLOURBLINDNESSIon ChannelsCLONINGDogscyclic nucleotide-gated channelGNAT2GeneticsmedicineLOCUSAnimalsHumansMissense mutationNeurosensory disorders [UMCN 3.3]ACHM3 locusDog DiseasesAlleleAllelesGenetics (clinical)Geneticstotal colorblindnessGNAT2PHOTORECEPTORSDYSTROPHYmedicine.diseaseCONE DEGENERATIONGENEeye diseasesPhenotypeEvaluation of complex medical interventions [NCEBP 2]MutationRetinal Cone Photoreceptor Cellssense organsachromatopsiarod monochromacyALPHA-SUBUNIThuman activities
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Thermal stability of transition alumina nanocrystals with different microstructures

2018

Abstract The preparation of well-crystallized boehmite nanoparticles with different morphologies, encompassing from aciculae or rods of 320, 150 and 70 nm of length to platelets of 50 nm in diameter, allowed a comparative study of their respective thermal evolutions as alumina precursors. Static thermal treatments of boehmite nanocrystals at 600, 1000 and 1200 °C and a dynamic, in situ synchrotron study between 100 and 1000 °C revealed that original boehmite microstructures, i.e. size and shape of the nanoparticles, were kept not only in γ-Al 2 O 3 but also in transitional aluminas up to 1000 °C. Specifically, at that temperature, acicular samples presented θ-Al 2 O 3 structure, while in pl…

AcicularBoehmiteMaterials scienceProcess Chemistry and TechnologyNanoparticle02 engineering and technology010402 general chemistry021001 nanoscience & nanotechnologyMicrostructure01 natural sciencesRod0104 chemical sciencesSurfaces Coatings and FilmsElectronic Optical and Magnetic MaterialsChemical engineeringNanocrystalPhase (matter)Materials ChemistryCeramics and CompositesThermal stability0210 nano-technologyCeramics International
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André Aciman: Etsi minut

2020

Kirja-arvostelu teoksesta André Aciman: Etsi minut (Find me). Suom. Antero Tiittula. Tammi 2020. 294 s. nonPeerReviewed

Aciman Andrékirja-arvostelutEtsi minuthomoseksuaalisuusihmissuhteet
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Wooden panel paintings investigation: An air-coupled ultrasonic imaging approach

2007

In this paper, a method for the study of wooden panel paintings using air-coupled acoustical imaging is presented. In order to evaluate the advantages of the technique, several samples were made to mimic panel paintings along with their typical defects. These specimens were tested by means of both single-sided and through-transmission techniques using planar transducers. Image data were processed by means of a two-dimensional (2-D)-fast Fourier transform-based algorithm to increase the S/N ratio and 2-D representations (C-scans) were generated. The simulated defects were imaged using both configurations. Investigations were undertaken on four antique paintings from a private collection. The…

Acoustical imagingEngineeringAcoustics and Ultrasonicsbusiness.industryAirFast Fourier transformImage processingStructural engineeringWoodUltrasonic imagingsymbols.namesakeFourier transformNondestructive testingImage Interpretation Computer-AssistedMaterials TestingsymbolsPaintingsElectrical and Electronic EngineeringAir coupledbusinessInstrumentationAlgorithmsUltrasonographyIEEE Transactions on Ultrasonics, Ferroelectrics and Frequency Control
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Control of irregular cardiac rhythm

2018

International audience; The aim of this work is to investigate the chaos control of the one di- mensional map which modelizes the duration of the current cardiac action potential (APD) as a function of the previous one. Using OGY control method, we obtain very satisfactory numerical results to stabilize the irregular heart rhythm into the normal rhythm.

Action Potential Duration (APD)chaos[MATH.MATH-DS]Mathematics [math]/Dynamical Systems [math.DS][ MATH.MATH-DS ] Mathematics [math]/Dynamical Systems [math.DS][MATH.MATH-DS] Mathematics [math]/Dynamical Systems [math.DS][ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processing[ SDV.MHEP.CSC ] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemequilibrium point[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemnormal rhythmirregular heart rhythm[SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processingcontrol[SPI.SIGNAL] Engineering Sciences [physics]/Signal and Image processing
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Active learning strategies for the deduplication of electronic patient data using classification trees.

2012

Graphical abstractDisplay Omitted Highlights? Active learning for medical record linkage is used on a large data set. ? We compare a simple active learning strategy with a more sophisticated variant. ? The active learning method of Sarawagi and Bhamidipaty (2002) 6] is extended. ? We deliver insights into the variations of the results due to random sampling in the active learning strategies. IntroductionSupervised record linkage methods often require a clerical review to gain informative training data. Active learning means to actively prompt the user to label data with special characteristics in order to minimise the review costs. We conducted an empirical evaluation to investigate whether…

Active learningComputer scienceActive learning (machine learning)Information Storage and RetrievalContext (language use)Health InformaticsSemi-supervised learningMachine learningcomputer.software_genreSet (abstract data type)Artificial IntelligenceBaggingData deduplicationElectronic Health RecordsHumansbusiness.industryString (computer science)Decision TreesOnline machine learningComputer Science ApplicationsData miningArtificial intelligenceMedical Record LinkageString metricbusinesscomputerAlgorithmsJournal of biomedical informatics
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Active Learning for Monitoring Network Optimization

2012

Kernel-based active learning strategies were studied for the optimization of environmental monitoring networks. This chapter introduces the basic machine learning algorithms originated in the statistical learning theory of Vapnik (1998). Active learning is closer to an optimization done using sequential Gaussian simulations. The chapter presents the general ideas of statistical learning from data. It derives the basics of kernel-based support vector algorithms. The active learning framework is presented and machine learning extensions for active learning are described in the chapter. Kernel-based active learning strategies are tested on real case studies. The chapter explores the use of a c…

Active learningComputer scienceActive learning (machine learning)Kernel-based support vector algorithmsMachine learningGaussian simulationsData scienceMonitoring network optimization
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Remote sensing image segmentation by active queries

2012

Active learning deals with developing methods that select examples that may express data characteristics in a compact way. For remote sensing image segmentation, the selected samples are the most informative pixels in the image so that classifiers trained with reduced active datasets become faster and more robust. Strategies for intelligent sampling have been proposed with model-based heuristics aiming at the search of the most informative pixels to optimize model's performance. Unlike standard methods that concentrate on model optimization, here we propose a method inspired in the cluster assumption that holds in most of the remote sensing data. Starting from a complete hierarchical descri…

Active learningComputer scienceActive learning (machine learning)SvmMultispectral image0211 other engineering and technologies02 engineering and technologyMultispectral imageryClusteringMultispectral pattern recognitionArtificial Intelligence0202 electrical engineering electronic engineering information engineeringSegmentationCluster analysis021101 geological & geomatics engineeringRetrievalPixelbusiness.industryLinkageHyperspectral imagingPattern recognitionRemote sensingSupport vector machineMultiscale image segmentationHyperspectral imageryPixel ClassificationSignal Processing020201 artificial intelligence & image processingHyperspectral Data ClassificationComputer Vision and Pattern RecognitionArtificial intelligencebusinessAlgorithmsSoftwareModel
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Gender differences in child and adolescent daily activities : a cross-national time use study

2021

This study used 2009–2015 time-diary data to examine gender differences in daily activities among children and adolescents aged 10–17 in Finland, Spain and the UK ( N = 3517). In all three countries, boys were significantly more involved in screen-based activities and exercising and girls in domestic work, non-screen educational activities and personal care. Gender differences in socializing time were only significant in the UK, with girls socializing more than boys. Gender gaps within countries were largest in domestic work (UK: 60%; Finland: 58%; Spain: 48%) and exercising (UK: 57%; Finland: 36%; Spain: 27%), followed by educational time (UK: 35%; Finland: 34%; Spain: 18%) and screen-bas…

Activities of daily livingCross-nationalDaily activitiesSociology and Political Sciencesukupuolierot05 social scienceslapset (ikäryhmät)kansainvälinen vertailu0506 political scienceChild and adolescentnuoretsukupuoliroolitajankäyttö050902 family studies050602 political science & public administrationGender differences0509 other social sciencesPsychologyTime useChildrenCross nationalDemography
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Urinary leukotriene E4 in the assessment of nocturnal asthma

1996

Urinary leukotriene E4 (LTE4) is a marker of the body's production of cysteinyl LTs, important mediators of airway inflammation. The role of the latter in nocturnal asthma is a topic of increasing interest.This investigation was aimed at determining whether nighttime attacks are associated with increased release of LTs, expressed by urinary LTE4, and the relationship between the two phenomena.Three groups were studied: group A, seven control subjects; group B, nine asthmatic patients without nocturnal attacks; and group C, nine asthmatic patients with a comparable daytime FEV1 but who were experiencing nocturnal exacerbations (morning dips in peak expiratory flow greater than 20%). Urine wa…

Activity CyclesAdultMalemedicine.medical_specialtyUrinary systemImmunologyUrineNocturnalGastroenterologychemistry.chemical_compoundInternal medicinemedicineHumansImmunology and AllergyAgedMorningAsthmaLeukotriene E4Leukotriene E4Creatininebusiness.industryMiddle Agedmedicine.diseaseAsthmaConfidence intervalEndocrinologychemistryFemalebusinessBiomarkersJournal of Allergy and Clinical Immunology
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