Search results for "HM"

showing 10 items of 10594 documents

West syndrome: a comprehensive review

2020

AbstractSince its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside…

0301 basic medicinePediatricsmedicine.medical_specialtyNeurologyEtiologymedicine.medical_treatmentDermatologyReview Article03 medical and health sciences0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaGeneticmedicineGeneticsHumansInfantile spasmsbusiness.industryInfantWest SyndromeElectroencephalographyGeneral MedicineInfantile SpasmWest syndromemedicine.diseasePrognosisHypsarrhythmiaPsychiatry and Mental healthEpileptic spasms030104 developmental biologyInfantile spasms syndromeEtiologyEpileptic spasmInfantile spasmNeurology (clinical)Neurosurgerymedicine.symptomEpileptic spasmsbusinessSpasms Infantile030217 neurology & neurosurgeryKetogenic diet
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Towards a Unified Functional Trait Framework for Parasites

2019

Trait-based research holds high potential to unveil ecological and evolutionary processes. Functional traits are fitness-related characteristics of individuals, which are measured at individual level and defined without using information external to the individual. Despite the usefulness of the functional approach to understand the performance of individuals in ecosystems, and parasitism being the most common life-history strategy on Earth, studies based on functional traits of parasites are still scarce. Since the choice of functional traits is a critical step for any study, we propose a core list of seven functional traits of metazoan parasites, related to three universal challenges faced…

0301 basic medicinePersistence (psychology)030231 tropical medicineFunctional approachBiologyModels BiologicalHost-Parasite InteractionsPersistence03 medical and health sciencesFunctional diversity0302 clinical medicineEstablishmentAnimalsParasitesCommunity ecologyLife History TraitsEcosystemHigh potentialLife Cycle StagesFunctional traitsfunctional diversityCommunityDispersalIndividual level030104 developmental biologyInfectious DiseasesEvolutionary biologyTraitBiological dispersalParasitologyTrends in Parasitology
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Generalized Molecular Descriptors Derived From Event-Based Discrete Derivative.

2016

In the present study, a generalized approach for molecular structure characterization is introduced, based on the relation frequency matrix (F) representation of the molecular graph and the subsequent calculation of the corresponding discrete derivative (finite difference) over a pair of elements (atoms). In earlier publications (22- 24), an unique event, named connected subgraphs, (based on the Kier-Hall's subgraphs) was systematically employed for the computation of the matrix F. The present report is a generalization of this notion, in which eleven additional events are introduced, classified in three categories, namely, topological (terminal paths, vertex path incidence, quantum subgrap…

0301 basic medicinePharmacologyVertex (graph theory)Discrete mathematicsBasis (linear algebra)Bioinformatics01 natural sciences0104 chemical sciences010404 medicinal & biomolecular chemistry03 medical and health scienceschemistry.chemical_compoundMatrix (mathematics)030104 developmental biologychemistryModels ChemicalMolecular descriptorDrug DiscoveryPath (graph theory)Molecular graphRepresentation (mathematics)FuransAlgorithmsSoftwareEvent (probability theory)Current pharmaceutical design
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Stochastic sampling effects favor manual over digital contact tracing.

2020

Isolation of symptomatic individuals, tracing and testing of their nonsymptomatic contacts are fundamental strategies for mitigating the current COVID-19 pandemic. The breaking of contagion chains relies on two complementary strategies: manual reconstruction of contacts based on interviews and a digital (app-based) privacy-preserving contact tracing. We compare their effectiveness using model parameters tailored to describe SARS-CoV-2 diffusion within the activity-driven model, a general empirically validated framework for network dynamics. We show that, even for equal probability of tracing a contact, manual tracing robustly performs better than the digital protocol, also taking into accou…

0301 basic medicinePhysics - Physics and SocietyComputer scienceEpidemiologyScienceComplex networksFOS: Physical sciencesGeneral Physics and AstronomyPhysics and Society (physics.soc-ph)Tracingcomputer.software_genreGeneral Biochemistry Genetics and Molecular BiologyArticleSpecimen Handling03 medical and health sciences0302 clinical medicineHumans030212 general & internal medicineQuantitative Biology - Populations and EvolutionPandemicsCondensed Matter - Statistical Mechanicsstochastic modelProtocol (science)Stochastic ProcessesMultidisciplinaryStatistical Mechanics (cond-mat.stat-mech)Stochastic processDiagnostic Tests RoutineSARS-CoV-2QPopulations and Evolution (q-bio.PE)Sampling (statistics)COVID-19General ChemistryComplex networkModels TheoreticalNetwork dynamics030104 developmental biologyFOS: Biological sciencesScalabilityQuarantineData miningContact TracingcomputerContact tracingAlgorithmsNature communications
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A New Experiment for the Measurement of the g-Factors of 3He+ and 3He2+.

2018

We describe a new experiment that aims at a parts per billion measurement of the nuclear magnetic moment of 3He2+ and a 100 parts per trillion measurement of the Zeeman effect of the ground-state hyperfine splitting of 3He+. To enable ultrafast and efficient experiment cycles the experiment relies on new technologies such as sympathetic laser cooling of single 3He-ions coupled to a cloud of Doppler-cooled 9Be-ions in a Penning trap or a novel spin-state detection scheme.

0301 basic medicinePhysicsHistoryZeeman effectPenning trap01 natural sciencesComputer Science ApplicationsEducation03 medical and health sciencessymbols.namesake030104 developmental biologyLaser coolingTheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITY0103 physical sciencesNuclear magnetic momentsymbolsPhysics::Atomic PhysicsAtomic physicsPräzisionsexperimente - Abteilung Blaum010306 general physicsUltrashort pulseHyperfine structure
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A Thermodynamic Model of Monovalent Cation Homeostasis in the Yeast Saccharomyces cerevisiae

2016

Cationic and heavy metal toxicity is involved in a substantial number of diseases in mammals and crop plants. Therefore, the understanding of tightly regulated transporter activities, as well as conceiving the interplay of regulatory mechanisms, is of substantial interest. A generalized thermodynamic description is developed for the complex interplay of the plasma membrane ion transporters, membrane potential and the consumption of energy for maintaining and restoring specific intracellular cation concentrations. This concept is applied to the homeostasis of cation concentrations in the yeast cells of S. cerevisiae. The thermodynamic approach allows to model passive ion fluxes driven by the…

0301 basic medicinePhysiologyATPaseAntiporterYeast and Fungal ModelsPhysical ChemistryBiochemistryIon ChannelsCation homeostasisMedicine and Health SciencesHomeostasislcsh:QH301-705.5Membrane potentialEcologybiologyChemistryOrganic CompoundsPhysicsMonosaccharidesElectrophysiologyChemistryComputational Theory and MathematicsBiochemistryModeling and SimulationPhysical SciencesThermodynamicsProtonsAlgorithmsResearch ArticleChemical ElementsSaccharomyces cerevisiaeCarbohydratesSaccharomyces cerevisiaeResearch and Analysis MethodsMembrane PotentialModels Biological03 medical and health sciencesCellular and Molecular NeuroscienceSaccharomycesModel OrganismsCationsGeneticsMolecular BiologyEcology Evolution Behavior and SystematicsIon transporterNuclear PhysicsNucleonsIonsOrganic ChemistrySodiumChemical CompoundsOrganismsFungiBiology and Life SciencesComputational BiologyBiological Transportbiology.organism_classificationYeast030104 developmental biologyGlucoseMetabolismlcsh:Biology (General)SymporterActive transportbiology.proteinBiophysicsPLoS Computational Biology
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The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the …

2021

Aim Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disease that typically manifests with cardiac arrhythmias, progressive heart failure and sudden cardiac death (SCD). ACM is mainly caused by mutations in genes encoding desmosome proteins. Desmosomes are cell-cell adhesion structures and hubs for mechanosensing and mechanotransduction. The objective was to identify the dysregulated molecular and biological pathways in human ACM in the absence of overt heart failure. Methods and results Transcriptomes in the right ventricular endomyocardial biopsy samples from three independent individuals carrying truncating mutations in the DSP gene and 5 control samples were analyzed by RNA-S…

0301 basic medicinePhysiologyCardiomyopathy030204 cardiovascular system & hematologyBiologyMechanotransduction CellularBiological pathway03 medical and health sciences0302 clinical medicinePhysiology (medical)medicineHumansMechanotransductionEP300Wnt Signaling PathwayArrhythmogenic Right Ventricular DysplasiaHeart FailureHippo signaling pathwayWnt signaling pathwayArrhythmias CardiacOriginal Articlesmedicine.diseaseCell biologyDeath Sudden Cardiac030104 developmental biologyCardiomyopathy Gene expression Hippo pathway RNA-Sequencing TP53 WNT pathwayHeart failureTumor Suppressor Protein p53Signal transductionCardiomyopathiesCardiology and Cardiovascular MedicineE1A-Associated p300 ProteinCardiovascular Research
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Circadian clock of Drosophila montana is adapted to high variation in summer day lengths and temperatures prevailing at high latitudes

2016

Photoperiodic regulation of the circadian rhythms in insect locomotor activity has been studied in several species, but seasonal entrainment of these rhythms is still poorly understood. We have traced the entrainment of activity rhythm of northern Drosophila montana flies in a climate chamber mimicking the photoperiods and day and night temperatures that the flies encounter in northern Finland during the summer. The experiment was started by transferring freshly emerged females into the chamber in early and late summer conditions to obtain both non-diapausing and diapausing females for the studies. The locomotor activity of the females and daily changes in the expression levels of two core …

0301 basic medicinePhysiologyTimelessPhotoperiodtimelessCircadian clockGene ExpressionZoologyBiologyDiapauseDiapause Insectphotoperiod03 medical and health sciences0302 clinical medicineCircadian Clockscircadian clockZeitgeberAnimalsDrosophila ProteinsCircadian rhythmFinlandphotoperiodismEcologyta1184TemperaturePeriod Circadian Proteinsseasonal adaptationperiod030104 developmental biologyInsect Scienceta1181Period Circadian ProteinsDrosophilalämpötilaSeasonsEntrainment (chronobiology)Locomotion030217 neurology & neurosurgeryJournal of Insect Physiology
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Does Pasteurized Donor Human Milk Efficiently Protect Preterm Infants Against Oxidative Stress?

2019

International audience; Pasteurized donor human milk (DHM) is the preferred alternative for infant nutrition when own mother's milk (OMM) is unavailable. Whether DHM is an efficient means for protecting preterm infants from oxidative stress remains unknown. We quantified a panel of oxidative stress biomarkers in urine samples from preterm infants (≤32 weeks of gestation and a birth weight ≤1500 g) receiving ≥80% of feeding volume as either DHM or OMM. The noninvasive in vivo assessment of oxidative stress showed no statistically significant difference between both groups at the time when full enteral nutrition (150 mL/kg body weight) was achieved and until hospital discharge. In addition, t…

0301 basic medicinePhysiology[SDV]Life Sciences [q-bio]Clinical BiochemistryPasteurizationmedicine.disease_causeBiochemistrylaw.inventionpreterm infant03 medical and health sciencesEnteral Nutritionfluids and secretionslawHumansMedicineoxidative stressLongitudinal StudiesProspective StudiesFood scienceMolecular BiologyGeneral Environmental Science2. Zero hungerMilk Human030102 biochemistry & molecular biologyfull enteral feedingbusiness.industryInfant Newbornfood and beveragesbiomarkersInfant nutritionCell BiologyInfant Low Birth Weight3. Good health030104 developmental biologydonor human milk (DHM)own mother's milk (OMM)PasteurizationGeneral Earth and Planetary SciencesFemalebusiness[SDV.AEN]Life Sciences [q-bio]/Food and NutritionInfant PrematureOxidative stress
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KnotGenome: a server to analyze entanglements of chromosomes.

2018

Abstract The KnotGenome server enables the topological analysis of chromosome model data using three-dimensional coordinate files of chromosomes as input. In particular, it detects prime and composite knots in single chromosomes, and links between chromosomes. The knotting complexity of the chromosome is presented in the form of a matrix diagram that reveals the knot type of the entire polynucleotide chain and of each of its subchains. Links are determined by means of the Gaussian linking integral and the HOMFLY-PT polynomial. Entangled chromosomes are presented graphically in an intuitive way. It is also possible to relax structure with short molecular dynamics runs before the analysis. Kn…

0301 basic medicinePolynomialProtein ConformationGaussianPolynucleotidesBiologyType (model theory)Molecular Dynamics SimulationPrime (order theory)ChromosomesQuantitative Biology::Subcellular Processes03 medical and health sciencessymbols.namesakeMatrix (mathematics)Knot (unit)Chain (algebraic topology)GeneticsDiscrete mathematicsInternetDiagramComputational BiologyMathematics::Geometric TopologyQuantitative Biology::Genomics030104 developmental biologyWeb Server IssuesymbolsAlgorithmsSoftwareNucleic acids research
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