Search results for "PROB"

showing 10 items of 8859 documents

Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological…

2018

Ependymoma with YAP1-MAMLD1 fusion is a rare, recently described supratentorial neoplasm of childhood, with few cases published so far. We report on 15 pediatric patients with ependymomas carrying YAP1-MAMLD1 fusions, with their characteristic histopathology, immunophenotype and molecular/cytogenetic, radiological and clinical features. The YAP1-MAMLD1 fusion was documented by RT-PCR/Sanger sequencing, and tumor genomes were studied by molecular inversion probe (MIP) analysis. Significant copy number alterations were identified by GISTIC (Genomic Identification of Significant Targets in Cancer) analysis. All cases showed similar histopathological features including areas of high cellularity…

0301 basic medicineEpendymomaSanger sequencingPathologymedicine.medical_specialtybusiness.industryGeneral NeuroscienceSupratentorial NeoplasmLocus (genetics)medicine.diseaseMolecular Inversion ProbePathology and Forensic Medicine03 medical and health sciencessymbols.namesake030104 developmental biology0302 clinical medicineImmunophenotypingmedicinesymbolsHistopathologyNeurology (clinical)medicine.symptombusinessAnaplasia030217 neurology & neurosurgeryBrain Pathology
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Informational and linguistic analysis of large genomic sequence collections via efficient Hadoop cluster algorithms

2018

Abstract Motivation Information theoretic and compositional/linguistic analysis of genomes have a central role in bioinformatics, even more so since the associated methodologies are becoming very valuable also for epigenomic and meta-genomic studies. The kernel of those methods is based on the collection of k-mer statistics, i.e. how many times each k-mer in {A,C,G,T}k occurs in a DNA sequence. Although this problem is computationally very simple and efficiently solvable on a conventional computer, the sheer amount of data available now in applications demands to resort to parallel and distributed computing. Indeed, those type of algorithms have been developed to collect k-mer statistics in…

0301 basic medicineEpigenomicsgenomic analysis; hadoop; distributed computingStatistics and ProbabilityComputer scienceBig dataSequence assemblyGenomeBiochemistryDomain (software engineering)Set (abstract data type)03 medical and health sciencesdistributed computingSoftwareComputational Theory and MathematicAnimalsCluster AnalysisHumansA-DNAk-mer counting distributed computing hadoop map reduceMolecular BiologyEpigenomicsBacteriabusiness.industryk-mer countingEukaryotaLinguisticsComputer Science Applications1707 Computer Vision and Pattern RecognitionGenomicsSequence Analysis DNAComputer Science ApplicationsComputational Mathematics030104 developmental biologymap reduceComputational Theory and MathematicsDistributed algorithmgenomic analysisKernel (statistics)MetagenomehadoopbusinessAlgorithmAlgorithmsSoftware
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Phylogenomics of Mycobacterium africanum reveals a new lineage and a complex evolutionary history.

2021

Coscolla et al.

0301 basic medicineEvolutionmycobacteriaLineage (evolution)030106 microbiologyPopulation610 Medicine & healthSystems Microbiology: Large-scale comparative genomicsGenomediversityMycobacterium tuberculosisEvolution Molecular03 medical and health sciences360 Social problems & social servicesPhylogenomicsevolutionDrug Resistance BacterialHumansTuberculosiseducationgenomePhylogeny030304 developmental biology0303 health scienceseducation.field_of_studyGenetic diversityDiversityGenomeMycobacterium africanumbiologyWhole Genome Sequencing030306 microbiologyMycobacteriaHigh-Throughput Nucleotide SequencingGeneral MedicineMycobacterium tuberculosisAfrica Easternbiology.organism_classification3. Good healthPhylogeographyAfrica WesternPhylogeography030104 developmental biologyMycobacterium tuberculosis complexEvolutionary biologyMycobacterium africanumGenome BacterialResearch Article
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FASTdoop: A versatile and efficient library for the input of FASTA and FASTQ files for MapReduce Hadoop bioinformatics applications

2017

Abstract Summary MapReduce Hadoop bioinformatics applications require the availability of special-purpose routines to manage the input of sequence files. Unfortunately, the Hadoop framework does not provide any built-in support for the most popular sequence file formats like FASTA or BAM. Moreover, the development of these routines is not easy, both because of the diversity of these formats and the need for managing efficiently sequence datasets that may count up to billions of characters. We present FASTdoop, a generic Hadoop library for the management of FASTA and FASTQ files. We show that, with respect to analogous input management routines that have appeared in the Literature, it offers…

0301 basic medicineFASTQ formatStatistics and ProbabilityComputer scienceSequence analysismedia_common.quotation_subjectInformation Storage and RetrievalBioinformaticscomputer.software_genreGenomeBiochemistryDomain (software engineering)03 medical and health sciencesComputational Theory and MathematicHumansGenomic libraryQuality (business)DNA sequencingFASTQ; NGS; FASTQ; DNA sequencingMolecular Biologymedia_commonGene LibrarySequenceDatabaseSettore INF/01 - InformaticaGenome HumanComputer Science Applications1707 Computer Vision and Pattern RecognitionGenomicsSequence Analysis DNAFASTQFile formatComputer Science ApplicationsStatistics and Probability; Biochemistry; Molecular Biology; Computer Science Applications1707 Computer Vision and Pattern Recognition; Computational Theory and Mathematics; Computational MathematicsComputational Mathematics030104 developmental biologyComputational Theory and MathematicsNGSDatabase Management Systemscomputer
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Diagnostic accuracy of elastography and magnetic resonance imaging in patients with NAFLD: A systematic review and meta-analysis

2021

[Background and Aims] Vibration-controlled transient elastography (VCTE), point shear wave elastography (pSWE), 2-dimensional shear wave elastography (2DSWE), magnetic resonance elastography (MRE), and magnetic resonance imaging (MRI) have been proposed as non-invasive tests for patients with non-alcoholic fatty liver disease (NAFLD). This study evaluated their diagnostic accuracy for liver fibrosis and non-alcoholic steatohepatitis (NASH).

0301 basic medicineFIBROSIS NONINVASIVE ASSESSMENTCirrhosisTransient elastographydeMILI0302 clinical medicineMedicineBARIATRIC SURGERY CANDIDATESNon-alcoholic steatohepatitismedicine.diagnostic_testNONALCOHOLIC STEATOHEPATITISFatty liverMagnetic Resonance Imaging3. Good healthArea Under CurveLiver biopsyElasticity Imaging TechniquesNASH-MRI030211 gastroenterology & hepatologyBio-markersRadiologyElastographyDiffusion-weighted imagingLife Sciences & BiomedicineAdultPREDICTS ADVANCED FIBROSISmedicine.medical_specialtyBiomarkers deMILI Diffusion-weighted imaging Magnetic resonance elastography NASH-MRI Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Shear wave elastography Transient elastography AdultArea Under Curve Elasticity Imaging Techniques Humans Magnetic Resonance Imaging Non-alcoholic Fatty Liver Disease ROC Curve fibro-MRI Iron-corrected T1 Liver fibrosisLiver fibrosisCONTROLLED ATTENUATION PARAMETERSTIFFNESS MEASUREMENT03 medical and health sciencesIron-corrected T1HumansFATTY LIVER-DISEASEScience & TechnologyHepatologyGastroenterology & Hepatologybusiness.industryRADIATION FORCE IMPULSEMagnetic resonance imagingmedicine.diseaseCONTROLLED TRANSIENT ELASTOGRAPHYMagnetic resonance elastography030104 developmental biologyROC CurveMagnetic resonance elastographyShear wave elastographyXL PROBEHuman medicinefibro-MRISteatohepatitisbusinessTransient elastographyBiomarkersNon-alcoholic fatty liver diseaseJournal of Hepatology
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Visualising G-quadruplex DNA dynamics in live cells by fluorescence lifetime imaging microscopy

2020

Guanine rich regions of oligonucleotides fold into quadruple-stranded structures called G-quadruplexes (G4s). Increasing evidence suggests that these G4 structures form in vivo and play a crucial role in cellular processes. However, their direct observation in live cells remains a challenge. Here we demonstrate that a fluorescent probe (DAOTA-M2) in conjunction with fluorescence lifetime imaging microscopy (FLIM) can identify G4s within nuclei of live and fixed cells. We present a FLIM-based cellular assay to study the interaction of non-fluorescent small molecules with G4s and apply it to a wide range of drug candidates. We also demonstrate that DAOTA-M2 can be used to study G4 stability i…

0301 basic medicineFluorescence-lifetime imaging microscopyIndolesIntravital MicroscopyGuanineScienceGeneral Physics and Astronomy010402 general chemistryG-quadruplex01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health scienceschemistry.chemical_compoundMiceCell Line TumorAnimalsHumans030304 developmental biologyFluorescent Dyes0303 health sciencesMultidisciplinaryChemistryOligonucleotideCellular AssayQDNA HelicasesGeneral ChemistryDNAFibroblastsFluorescenceSmall moleculeChemical biologyFanconi Anemia Complementation Group Proteins0104 chemical sciencesMolecular ImagingG-QuadruplexesDNA helicase activity030104 developmental biologyMicroscopy FluorescenceGene Knockdown TechniquesBiophysicsFluorescent probesMolecular imagingRNA HelicasesNature Communications
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Production Conditions Affect the In Vitro Anti-Tumoral Effects of a High Concentration Multi-Strain Probiotic Preparation.

2016

A careful selection of the probiotic agent, standardization of the dose and detailed characterization of the beneficial effects are essential when considering use of a probiotic for the dietary management of serious diseases. However, changes in the manufacturing processes, equipment or facilities can result in differences in the product itself due to the live nature of probiotics. The need to reconfirm safety and/or efficacy for any probiotic product made at a different factory is therefore mandatory. Recently, under the brand VSL#3®, a formulation produced by a manufacturer different from the previous one, has been commercialized in some European countries (the UK and Holland). VSL#3 is a…

0301 basic medicineGenetics and Molecular Biology (all)Cell LinesCancer Treatmentlcsh:MedicineApoptosisMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)Biochemistrylaw.inventionProbiotic0302 clinical medicinelawMedicine and Health SciencesMedicineCell Cycle and Cell DivisionEnzyme-Linked Immunoassayslcsh:ScienceStainingMultidisciplinaryCell DeathMedicine (all)Inflammatory Bowel DiseasesCell StainingApoptotic deathProbiotic agentOncologyCell Processes030211 gastroenterology & hepatologyBiological CulturesResearch ArticleTumor cellsAffect (psychology)Research and Analysis MethodsMicrobiology03 medical and health sciencesImmunoassaysBeneficial effectsBacteriabusiness.industryProbioticslcsh:ROrganismsBiology and Life SciencesCell BiologyIn vitroBiotechnology030104 developmental biologyAgricultural and Biological Sciences (all)Specimen Preparation and TreatmentImmunologyImmunologic Techniqueslcsh:QCaco-2 CellsbusinessPLoS ONE
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Association of susceptible genotypes to periodontal disease with the clinical outcome and tooth survival after non-surgical periodontal therapy: A sy…

2015

Background The real clinical utility of genetic testing is the prognostic value of genetic factors in the clinical outcome of periodontal treatment and the tooth survival. A meta-analysis was undertaken to estimate the effect of a susceptible genotype to periodontitis on the clinical outcomes of non-surgical periodontal therapy and the tooth survival. Material and Methods A systematic search of MEDLINE-Pubmed, Cochrane Library and Scopus was performed. Additionally, a hand search was done in three journals. No specific language restriction was applied. Two reviewers screened independently titles and abstracts or full text copies. Quality assessment of all the included studies was held. Resu…

0301 basic medicineGenotypeBleeding on probingTooth lossDentistryOdontologíaReviewCochrane LibraryMedical and Health Sciences03 medical and health sciences0302 clinical medicineGenotypeTooth lossmedicineHumansGenetic Predisposition to DiseasePolymorphismPeriodontitisGeneral DentistryPeriodontal DiseasesGenetic testingPeriodontitisOral Medicine and Pathologymedicine.diagnostic_testbusiness.industryClinical outcomePeriodontal therapy030206 dentistryBasic Medicinemedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludMeta-analysisTreatment Outcome030104 developmental biologyOtorhinolaryngologyClinical attachment lossSusceptibilityMeta-analysisUNESCO::CIENCIAS MÉDICASSystematic reviewSurgerymedicine.symptomPeriodontal diseasebusinessTooth
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Comparative Performance of Linear Multielectrode Probes and Single-Tip Electrodes for Intracortical Microstimulation and Single-Neuron Recording in M…

2017

Intracortical microstimulation (ICMS) is one of the most widely employed techniques for providing causal evidence of the relationship between neuronal activity and specific motor, perceptual, or even cognitive functions. In recent years, several new types of linear multielectrode silicon probes have been developed, allowing researchers to sample neuronal activity at different depths along the same cortical site simultaneously and with high spatial precision. Nevertheless, silicon multielectrode probes have been rarely employed for ICMS studies and, more importantly, it is unknown whether and to what extent they can be used for combined recording and stimulation experiments. Here, we address…

0301 basic medicineHand regionMaterials scienceCognitive NeuroscienceNeuroscience (miscellaneous)Acute recording; Chronic recording; Electrical stimulation; Macaque monkey; Silicon probes; Neuroscience (miscellaneous); Developmental Neuroscience; Cognitive Neuroscience; Cellular and Molecular NeuroscienceMacaquechronic recording03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineDevelopmental Neurosciencebiology.animalmedicinePremovement neuronal activitysilicon probeselectrical stimulationOriginal Researchbiologytechnology industry and agricultureequipment and suppliesmacaque monkeyMicroelectrode030104 developmental biologyIntracortical microstimulationmedicine.anatomical_structureElectrodeacute recordingNeuron030217 neurology & neurosurgeryBiomedical engineeringMotor cortexNeuroscienceFrontiers in systems neuroscience
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Searching events in AFM force-extension curves: A wavelet approach

2016

An algorithm, based on the wavelet scalogram energy, for automatically detecting events in force-extension AFM force spectroscopy experiments is introduced. The events to be detected are characterized by a discontinuity in the signal. It is shown how the wavelet scalogram energy has different decay rates at different points depending on the degree of regularity of the signal, showing faster decay rates at regular points and slower rates at singular points (jumps). It is shown that these differences produce peaks in the scalogram energy plot at the event points. Finally, the algorithm is illustrated in a tether analysis experiment by using it for the detection of events in the AFM force-exte…

0301 basic medicineHistology010504 meteorology & atmospheric sciencesDegree (graph theory)Mathematical analysisAnalytical chemistryForce spectroscopy01 natural sciencesSignalPlot (graphics)03 medical and health sciencesMedical Laboratory TechnologyDiscontinuity (linguistics)030104 developmental biologyWaveletAnatomyInstrumentationEnergy (signal processing)0105 earth and related environmental sciencesEvent (probability theory)MathematicsMicroscopy Research and Technique
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