Search results for "range"

showing 10 items of 4508 documents

Frequency and prognostic impact of ALK amplifications and mutations in the European Neuroblastoma Study Group (SIOPEN) high-risk neuroblastoma trial …

2021

Purpose: In neuroblastoma (NB), the ALK receptor tyrosine kinase can be constitutively activated through activating point mutations or genomic amplification. We studied ALK genetic alterations in high-risk (HR) patients on the HR-NBL1/SIOPEN trial to determine their frequency, correlation with clinical parameters, and prognostic impact. Materials and methods: Diagnostic tumor samples were available from 1,092 HR-NBL1/SIOPEN patients to determine ALK amplification status (n = 330), ALK mutational profile (n = 191), or both (n = 571). Results: Genomic ALK amplification (ALKa) was detected in 4.5% of cases (41 out of 901), all except one with MYCN amplification (MNA). ALKa was associated with …

0301 basic medicineCancer ResearchPrognostic ImpactAnaplastic Lymphoma Kinase/genetics; Child Preschool; Clinical Trials Phase III as Topic; Europe; Female; Follow-Up Studies; Gene Amplification; Humans; Infant; Male; Mutation Rate; N-Myc Proto-Oncogene Protein/genetics; Neuroblastoma/genetics; Prognosis; Randomized Controlled Trials as Topic; Risk Factors; Survival RateEuropean Neuroblastoma Study GroupSIOPENRELAPSE03 medical and health sciencesNeuroblastoma0302 clinical medicineText miningNeuroblastomahemic and lymphatic diseasesREVEALSMedicine and Health SciencesKINASEMedicineHigh risk neuroblastomaHETEROGENEITYCRIZOTINIBSEGMENTAL CHROMOSOMAL ALTERATIONSACTIVATING MUTATIONSPEDIATRIC-PATIENTSbusiness.industryALK receptor tyrosine kinasePoint mutationREARRANGEMENTSCHEMOTHERAPYmedicine.diseaseDoenças Genéticas030104 developmental biologyALKOncology030220 oncology & carcinogenesisCancer researchbusiness
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

2017

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …

0301 basic medicineCandidate genediagnosis030105 genetics & heredityMedical and Health SciencescytogeneticsTranslocation Geneticchromosomal translocationChromosome Breakpointschromatin conformationbalanced chromosomal rearrangement2.1 Biological and endogenous factorsChromosomes HumanGenetics(clinical)AetiologyGenetics (clinical)In Situ HybridizationIn Situ Hybridization Fluorescencelong-range effectGeneticsGenetics & HeredityGene RearrangementGenomeChromosome MappingBiological SciencesChromatinPosition effectPhenotypeMedical geneticsHPOHumandistal effectmedicine.medical_specialtyChromosome engineeringchromosomal rearrangement/dk/atira/pure/subjectarea/asjc/1300/1311KaryotypeTranslocationChromosomal rearrangementBiologyChromosomesFluorescenceArticleChromosomal Position Effects03 medical and health sciencesGeneticClinical ResearchmedicineGeneticsHumansGenetic Predisposition to DiseaseGeneGenome HumanHuman GenomeGenetic Variation/dk/atira/pure/subjectarea/asjc/2700/2716030104 developmental biologyGene Expression RegulationHuman genomeclinical geneticsAmerican journal of human genetics
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Impact of high-pressure processing on the stability and bioaccessibility of bioactive compounds in Clementine mandarin juice and its cytoprotective e…

2020

Mandarin juice is a rich source of antioxidant bioactive compounds. While the content and profile of bioactives are known, the impact of high-pressure processing (HPP) on their stability and bioaccessibility (BA) is unknown, but may allow obtaining safe, nutritious, and fresh-tasting juices with highly extractable bioactive compounds. The stability and BA of bioactive antioxidant compounds in untreated and HPP-treated (400 MPa/40 °C/1 min) Clementine mandarin juices, and the cytoprotective effect of its bioaccessible fractions (BF) obtained after simulated gastrointestinal digestion against H2O2-induced oxidative stress in differentiated Caco-2 cells were investigated. The BF of HPP-treated…

0301 basic medicineCitrusAntioxidantFood Handlingmedicine.medical_treatmentPhytochemicalsBiological AvailabilityPascalization03 medical and health sciences0404 agricultural biotechnologyCryoprotective AgentsAntioxidant activitymedicineHumansBeta-cryptoxanthinFood scienceOrange juiceCarotenoidchemistry.chemical_classificationOrange juicePulsed electric-fields030109 nutrition & dieteticsVitamin CVitamin-c04 agricultural and veterinary sciencesGeneral MedicineAscorbic acid040401 food scienceCytoprotectionIn-vitro bioaccessibilityFlavonoid compositionFruit and Vegetable JuiceschemistryPolyphenolOxidative stressCitrus juiceAscorbic acidCaco-2 CellsFood ScienceFoodfunction
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Scientific Reports

2019

Anthropogenic climate change ranks among the major global-scale threats to modern biodiversity. Extinction risks are known to increase via the interactions between rapid climatic alterations and environmentally-sensitive species traits that fail to adapt to those changes. Accumulating evidence reveals the influence of ecophysiological, ecological and phenological factors as drivers underlying demographic collapses that lead to population extinctions. However, the extent to which life-history traits influence population responses to climate change remains largely unexplored. The emerging 'cul-de-sac hypothesis' predicts that reptilian viviparity ('live-bearing' reproduction), a 'key innovati…

0301 basic medicineClimate ChangePopulationBiodiversitylcsh:MedicineClimate changeBiologyArticlerange shiftsBody Temperatureiguania03 medical and health sciences0302 clinical medicinenichesevolutionAnimalslcsh:ScienceeducationriskKey innovationEcological nicheeducation.field_of_studyMultidisciplinaryExtinctionbiologyEcologylcsh:RGlobal warmingLizardsBiodiversityCold ClimateAdaptation Physiologicalreptilian viviparityspecies distributionsgenus liolaemus030104 developmental biologylcsh:QAdaptation6th mass extinction030217 neurology & neurosurgeryScientific Reports
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Comparison between adenosine triphosphate bioluminescence and aerobic colony count to assess surface sanitation in the hospital environment

2022

Background: Adenosine triphosphate bioluminescence produced by the firefly luciferase has been successfullyintroduced to verify cleaning procedures in the food industry according to the Hazard Analysis Critical Control Pointprogram.Our aim was to evaluate the reliability of bioluminescence as a tool to monitor the effectiveness of sanitation in healthcaresettings, in comparison with the microbiological gold standard.Methods: 614 surfaces of various material were randomly sampled in Policlinico University Hospital units in Palermo,Italy, to detect adenosine triphosphate bioluminescence and aerobic colony count. Linear regression model andPearson correlation coefficient were used to estimate …

0301 basic medicineColony-forming unitVeterinary medicinebusiness.industry030106 microbiologyGold standard (test)Cleaning monitoringPearson product-moment correlation coefficientSurfaces03 medical and health sciencessymbols.namesakechemistry.chemical_compoundsanitation; hospital hygiene; bioluminescencechemistryInterquartile rangeLinear regressionsymbolsColony countBioluminescenceMedicineBioluminescenceSanitationbusinessAdenosine triphosphate
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Reducing sample size in experiments with animals: historical controls and related strategies

2015

Reducing the number of animal subjects used in biomedical experiments is desirable for ethical and practical reasons. Previous reviews of the benefits of reducing sample sizes have focused on improving experimental designs and methods of statistical analysis, but reducing the size of control groups has been considered rarely. We discuss how the number of current control animals can be reduced, without loss of statistical power, by incorporating information from historical controls, i.e. subjects used as controls in similar previous experiments. Using example data from published reports, we describe how to incorporate information from historical controls under a range of assumptions that mig…

0301 basic medicineComputer scienceDesign of experimentsControl (management)Control subjects01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyStatistical power010104 statistics & probability03 medical and health sciences030104 developmental biologySample size determinationStatisticsRange (statistics)Statistical analysis0101 mathematicsGeneral Agricultural and Biological SciencesStatistical hypothesis testingBiological Reviews
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Differential staining of peripheral nuclear chromatin with Acridine orange implies an A-form epichromatin conformation of the DNA

2018

ABSTRACT The chromatin observed by conventional electron microscopy under the nuclear envelope constitutes a single layer of dense 30–35 nm granules, while ∼30 nm fibrils laterally attached to them, form large patches of lamin-associated domains (LADs). This particular surface “epichromatin” can be discerned by specific (H2A+H2B+DNA) conformational antibody at the inner nuclear envelope and around mitotic chromosomes. In order to differentiate the DNA conformation of the peripheral chromatin we applied an Acridine orange (AO) DNA structural test involving RNAse treatment and the addition of AO after acid pre-treatment. MCF-7 cells treated in this way revealed yellow/red patches of LADs atta…

0301 basic medicineDNA A-formRNase P03 medical and health scienceschemistry.chemical_compoundHumansLADsNADsMitosisOriginal ResearchStaining and LabelingDifferential stainingMetachromasiaAcridine orangeDNACell BiologyepichromatinAcridine OrangeChromatinnucleosome superbeadsChromatinStainingDNA structural test030104 developmental biologychemistryMCF-7 CellsBiophysicsNucleic Acid ConformationDNANucleus
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Parasites, pathogens, and other symbionts of copepods.

2021

There is a large diversity of eukaryotic symbionts of copepods, dominated by epizootic protists such as ciliates, and metazoan parasites. Eukaryotic endoparasites, copepod-associated bacteria, and viruses are less well known, partly due to technical limitations. However, new molecular techniques, combined with a range of other approaches, provide a complementary toolkit for understanding the complete symbiome of copepods and how the symbiome relates to their ecological roles, relationships with other biota, and responses to environmental change. In this review we provide the most complete overview of the copepod symbiome to date, including microeukaryotes, metazoan parasites, bacteria, and …

0301 basic medicineEnvironmental changeRange (biology)030231 tropical medicineZoologyBiologyCopepoda03 medical and health sciences0302 clinical medicinemedicineAnimalsSymbiosisEpizooticEcosystemMicrobiotafungiDinoflagellateEukaryotaBiotamedicine.diseasebiology.organism_classification030104 developmental biologyInfectious DiseasesMicrosporidiaParasitologyhuman activitiesCopepodBacteriaTrends in parasitology
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Epidemiology of fascioliasis in human endemic areas

2005

AbstractConsidered a secondary zoonotic disease until the mid-1990s, human fascioliasis is at present emerging or re-emerging in many countries, including increases of prevalence and intensity and geographical expansion. Research in recent years has justified the inclusion of fascioliasis in the list of important human parasitic diseases. At present, fascioliasis is a vector-borne disease presenting the widest known latitudinal, longitudinal and altitudinal distribution.Fasciola hepaticahas succeeded in expanding from its European original geographical area to colonize five continents, despite theoretical restrictions related to its biology and in turn dependent upon environmental and human…

0301 basic medicineFascioliasismedicine.medical_specialtyEndemic DiseasesRange (biology)030231 tropical medicineHelminthiasisDistribution (economics)DiseaseBiologyZoonotic diseaseDisease Outbreaks03 medical and health sciences0302 clinical medicineEnvironmental healthEpidemiologyPrevalencemedicineAnimalsHumansChildbusiness.industryTransmission (medicine)AltitudeGeneral MedicineFasciola hepatica030108 mycology & parasitologymedicine.diseaseFasciolaHuman fascioliasisFemaleAnimal Science and ZoologyParasitologybusinessJournal of Helminthology
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"Islands of divergence" in the Atlantic cod genome represent polymorphic chromosomal rearrangements

2016

- In several species genetic differentiation across environmental gradients or between geographically separate populations has been reported to center at “genomic islands of divergence,” resulting in heterogeneous differentiation patterns across genomes. Here, genomic regions of elevated divergence were observed on three chromosomes of the highly mobile fish Atlantic cod (Gadus morhua) within geographically fine-scaled coastal areas. The “genomic islands” extended at least 5, 9.5, and 13 megabases on linkage groups 2, 7, and 12, respectively, and coincided with large blocks of linkage disequilibrium. For each of these three chromosomes, pairs of segregating, highly divergent alleles were id…

0301 basic medicineGene FlowLinkage disequilibriumpopulation genomicsGenomePolymorphism Single NucleotideChromosomesLinkage DisequilibriumDivergenceGene flowPopulation genomics03 medical and health sciencesecological adaptationVDP::Genetikk og genomikk: 474VDP::Genetics and genomics: 474GeneticsGadusAnimalsAllele:Genetikk og genomikk: 474 [VDP]Ecology Evolution Behavior and Systematicschromosomal rearrangementsChromosomal inversionGeneticsmarine organismsGenomebiologystructural polymorphismsbiology.organism_classificationAdaptation Physiological030104 developmental biologyGadus morhuaChromosome InversionMetagenomics:Genetics and genomics: 474 [VDP]Research Article
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