950 resultados para Copy number variations and polymorphisms
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Data from diverse studies endorse ideas that short term torpor and hibernation are expressions of ancient characters. In evolutionary terms, their basic mechanisms are probably plesiomorphic (= ancestral/primitive) and physiologically similar. This contrasts with the alternate view that they are apomorphic (= derived, specialized), arising independently in many taxa from homeothermic ancestry by numerous apparent convergences. This paper explores some of the implications of accepting the plesiomorphic interpretation. Hibernation is, of course, a complex phenomenon that has undergone variations and refinements in different mammalian lineages. The argument is not that hibernation in total is a plesiomorphic character, but that it is built upon fundamental processes that are. Taking this view provides a framework for research that emphasizes the value of comparative studies, particularly of reptiles and birds. Studies of reptiles, for example, might unravel the mystery about periodic arousals. A plesiomorphic framework also explains the most extreme examples of hibernation as derived specializations from ancestry in which heterothermy is more about energy management than escape from cold. It cautions against using low body temperature (Tb) alone to diagnose torpor, emphasizes the need to distinguish between constitutional eurythermy (plesiomorphic) and constitutional stenothermy (apomorphic), and leads to a parsimonious theory about the evolution of endothermy. The paper proposes that brown adipose tissue (BAT) is apomorphic within eutheria and highlights the conundrum posed by the occurrence of both nonshivering thermogenesis (NST) and rapid arousal from hibernation in noneutherian mammals that lack BAT and uncoupling protein 1 (UCP1). It endorses the likely existence of a different, ancient and widespread mechanism for regulatory NST in mammals.
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Pulse transit time (PTT) is a non-invasive measure, defined as time taken for the pulse pressure waves to travel from the R-wave of electrocardiogram to a selected peripheral site. Baseline PTT value is known to be influenced by physiologic variables like heart rate (HR), blood pressure (BP) and arterial compliance (AC). However, few quantitative data are available describing the factors which can influence PTT measurements in a child during breathing. The aim of this study was to investigate the effects of changes in breathing efforts on PTT baseline and fluctuations. Two different inspiratory resistive loading (IRL) devices were used to simulate loaded breathing in order to induce these effects. It is known that HR can influence the normative PTT value however the effect of HR variability (HRV) is not well-studied. Two groups of 3 healthy children ( 0.05) HR changes during all test activities. Results showed that HRV is not the sole contributor to PTT variations and suggest that changes in other physiologic parameters are also equally important. Hence, monitoring PTT measurement can be indicative of these associated changes during tidal or increased breathing efforts in healthy children.
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The stability characteristics of an incompressible viscous pressure-driven flow of an electrically conducting fluid between two parallel boundaries in the presence of a transverse magnetic field are compared and contrasted with those of Plane Poiseuille flow (PPF). Assuming that the outer regions adjacent to the fluid layer are perfectly electrically insulating, the appropriate boundary conditions are applied. The eigenvalue problems are then solved numerically to obtain the critical Reynolds number Rec and the critical wave number ac in the limit of small Hartmann number (M) range to produce the curves of marginal stability. The non-linear two-dimensional travelling waves that bifurcate by way of a Hopf bifurcation from the neutral curves are approximated by a truncated Fourier series in the streamwise direction. Two and three dimensional secondary disturbances are applied to both the constant pressure and constant flux equilibrium solutions using Floquet theory as this is believed to be the generic mechanism of instability in shear flows. The change in shape of the undisturbed velocity profile caused by the magnetic field is found to be the dominant factor. Consequently the critical Reynolds number is found to increase rapidly with increasing M so the transverse magnetic field has a powerful stabilising effect on this type of flow.
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Background: Age-related macular disease is the leading cause of blind registration in the developed world. One aetiological hypothesis involves oxidation, and the intrinsic vulnerability of the retina to damage via this process. This has prompted interest in the role of antioxidants, particularly the carotenoids lutein and zeaxanthin, in the prevention and treatment of this eye disease. Methods: The aim of this randomised controlled trial is to determine the effect of a nutritional supplement containing lutein, vitamins A, C and E, zinc, and copper on measures of visual function in people with and without age-related macular disease. Outcome measures are distance and near visual acuity, contrast sensitivity, colour vision, macular visual field, glare recovery, and fundus photography. Randomisation is achieved via a random number generator, and masking achieved by third party coding of the active and placebo containers. Data collection will take place at nine and 18 months, and statistical analysis will employ Student's t test. Discussion: A paucity of treatment modalities for age-related macular disease has prompted research into the development of prevention strategies. A positive effect on normals may be indicative of a role of nutritional supplementation in preventing or delaying onset of the condition. An observed benefit in the age-related macular disease group may indicate a potential role of supplementation in prevention of progression, or even a degree reversal of the visual effects caused by this condition.
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Using suitable coupled Navier-Stokes Equations for an incompressible Newtonian fluid we investigate the linear and non-linear steady state solutions for both a homogeneously and a laterally heated fluid with finite Prandtl Number (Pr=7) in the vertical orientation of the channel. Both models are studied within the Large Aspect Ratio narrow-gap and under constant flux conditions with the channel closed. We use direct numerics to identify the linear stability criterion in parametric terms as a function of Grashof Number (Gr) and streamwise infinitesimal perturbation wavenumber (making use of the generalised Squire’s Theorem). We find higher harmonic solutions at lower wavenumbers with a resonance of 1:3exist, for both of the heating models considered. We proceed to identify 2D secondary steady state solutions, which bifurcate from the laminar state. Our studies show that 2D solutions are found not to exist in certain regions of the pure manifold, where we find that 1:3 resonant mode 2D solutions exist, for low wavenumber perturbations. For the homogeneously heated fluid, we notice a jump phenomenon existing between the pure and resonant mode secondary solutions for very specific wavenumbers .We attempt to verify whether mixed mode solutions are present for this model by considering the laterally heated model with the same geometry. We find mixed mode solutions for the laterally heated model showing that a bridge exists between the pure and 1:3 resonant mode 2D solutions, of which some are stationary and some travelling. Further, we show that for the homogeneously heated fluid that the 2D solutions bifurcate in hopf bifurcations and there exists a manifold where the 2D solutions are stable to Eckhaus criterion, within this manifold we proceed to identify 3D tertiary solutions and find that the stability for said 3D bifurcations is not phase locked to the 2D state. For the homogeneously heated model we identify a closed loop within the neutral stability curve for higher perturbation wavenumubers and analyse the nature of the multiple 2D bifurcations around this loop for identical wavenumber and find that a temperature inversion occurs within this loop. We conclude that for a homogeneously heated fluid it is possible to have abrup ttransitions between the pure and resonant 2D solutions, and that for the laterally heated model there exist a transient bifurcation via mixed mode solutions.
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Object. Craniopharyngioma is the most common childhood brain tumor and is thought to arise from embryonic remnants of the Rathke pouch. Some craniopharyngiomas are monoclonal in origin and hence presumably harbor somatic genetic alterations, although the precise molecular mechanisms involved in craniopharyngioma development are unknown. The goal of this study was to identify genetic alterations in craniopharyngiomas. Methods. To gain insight into the molecular mechanisms involved in development of these tumors, the authors analyzed nine adamantinomatous craniopharyngiomas by using comparative genomic hybridization. Six tumors (67%) displayed at least one genomic alteration, and three had six or more alterations. Only two tumors displayed a decrease in DNA copy number, and in all others an increase in DNA copy number was noted. Conclusions. The authors conclude that a subset of craniopharyngiomas consists of monoclonal tumors arising from activation of oncogenes located at specific chromosomal loci.
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2000 Mathematics Subject Classification: 11D75, 11D85, 11L20, 11N05, 11N35, 11N36, 11P05, 11P32, 11P55.
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AMS subject classification: 41A17, 41A50, 49Kxx, 90C25.
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2000 Mathematics Subject Classification: Primary: 11D09, 11A55, 11C08, 11R11, 11R29; Secondary: 11R65, 11S40; 11R09.
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We argue that the physics of interacting Kelvin Waves (KWs) is highly nontrivial and cannot be understood on the basis of pure dimensional reasoning. A consistent theory of KW turbulence in superfluids should be based upon explicit knowledge of their interactions. To achieve this, we present a detailed calculation and comprehensive analysis of the interaction coefficients for KW turbuelence, thereby, resolving previous mistakes stemming from unaccounted contributions. As a first application of this analysis, we derive a local nonlinear (partial differential) equation. This equation is much simpler for analysis and numerical simulations of KWs than the Biot-Savart equation, and in contrast to the completely integrable local induction approximation (in which the energy exchange between KWs is absent), describes the nonlinear dynamics of KWs. Second, we show that the previously suggested Kozik-Svistunov energy spectrum for KWs, which has often been used in the analysis of experimental and numerical data in superfluid turbulence, is irrelevant, because it is based upon an erroneous assumption of the locality of the energy transfer through scales. Moreover, we demonstrate the weak nonlocality of the inverse cascade spectrum with a constant particle-number flux and find resulting logarithmic corrections to this spectrum.
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Disturbances alter competitive hierarchies by reducing populations and altering resource regimes. The interaction between disturbance and resource availability may strongly influence the structure of plant communities, as observed in the recolonization of seagrass beds in outer Florida Bay that were denuded by sea-urchin overgrazing. There is no consensus concerning the interaction between disturbance and resource availability on competition intensity (CI). On the other hand, species diversity is dependent on both factors. Peaks in species diversity have been observed to occur when both resource availability and disturbance intensity are high, thus implying that CI is low. Based on this supposition of previous models, I presented the resource-disturbance hypothesis as a graphical model to make predictions of CI as a function of both disturbance intensity and the availability of a limiting resource. The predictions of this model were tested in two experiments within a seagrass community in south Florida, in which transplants of Halodule wrightii were placed into near-monocultures of Syringodium filiforme in a full-factorial array. In the first experiment, two measures of relative CI were calculated based on the changes in the short-shoot number (SS) and of rhizome length (RHL) on the transplants. Both light and disturbance were identified as important factors, though the interaction between light * disturbance was not significant. Relative CISS ranged between 0.2 and 1.0 for the high light and high disturbance treatments and the relative CIRHL < 0 for the same treatments, though results were not significantly different due to high variability and low sample size. These results, including a contour schematic using six data points from the different treatment combinations, preliminarily suggests that the resource-disturbance hypothesis may be used may be used as a next step in developing our understanding of the mechanisms involved in structuring plant communities. Furthermore, the focus of the model is on the outcome of CI, which may be a useful predictor of changes in species diversity. Further study is needed to confirm the results of this study and validate the usefulness of this model in other systems. ^
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Groundwater systems of different densities are often mathematically modeled to understand and predict environmental behavior such as seawater intrusion or submarine groundwater discharge. Additional data collection may be justified if it will cost-effectively aid in reducing the uncertainty of a model's prediction. The collection of salinity, as well as, temperature data could aid in reducing predictive uncertainty in a variable-density model. However, before numerical models can be created, rigorous testing of the modeling code needs to be completed. This research documents the benchmark testing of a new modeling code, SEAWAT Version 4. The benchmark problems include various combinations of density-dependent flow resulting from variations in concentration and temperature. The verified code, SEAWAT, was then applied to two different hydrological analyses to explore the capacity of a variable-density model to guide data collection. ^ The first analysis tested a linear method to guide data collection by quantifying the contribution of different data types and locations toward reducing predictive uncertainty in a nonlinear variable-density flow and transport model. The relative contributions of temperature and concentration measurements, at different locations within a simulated carbonate platform, for predicting movement of the saltwater interface were assessed. Results from the method showed that concentration data had greater worth than temperature data in reducing predictive uncertainty in this case. Results also indicated that a linear method could be used to quantify data worth in a nonlinear model. ^ The second hydrological analysis utilized a model to identify the transient response of the salinity, temperature, age, and amount of submarine groundwater discharge to changes in tidal ocean stage, seasonal temperature variations, and different types of geology. The model was compared to multiple kinds of data to (1) calibrate and verify the model, and (2) explore the potential for the model to be used to guide the collection of data using techniques such as electromagnetic resistivity, thermal imagery, and seepage meters. Results indicated that the model can be used to give insight to submarine groundwater discharge and be used to guide data collection. ^
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This study on risk and disaster management capacities of four Caribbean countries: Barbados, the Dominican Republic, Jamaica, and Trinidad and Tobago, examines three main dimensions: 1) the impact of natural disasters from 1900 to 2010 (number of events, number of people killed, total number affected, and damage in US$); 2) institutional assessments of disaster risk management disparity; and 3) the 2010 Inter-American Bank for Development (IADB) Disaster Risk and Risk Management indicators for the countries under study. The results show high consistency among the different sources examined, pointing out the need to extend the IADB measurements to the rest of the Caribbean countries. Indexes and indicators constitute a comparison measure vis-à-vis existing benchmarks in order to anticipate a capacity to deal with adverse events and their consequences; however, the indexes and indicators could only be tested against the occurrence of a real event. Therefore, the need exists to establish a sustainable and comprehensive evaluation system after important disasters to assess a country‘s performance, verify the indicators, and gain feedback on measurement systems and methodologies. There is diversity in emergency and preparedness for disasters in the four countries under study. The nature of the event (hurricanes, earthquakes, floods, and seismic activity), especially its frequency and the intensity of the damage experienced, is related to how each has designed its risk and disaster management policies and programs to face natural disasters. Vulnerabilities to disaster risks have been increasing, among other factors, because of uncontrolled urbanization, demographic density and poverty increase, social and economic marginalization, and lack of building code enforcement. The four countries under study have shown improvements in risk management capabilities, yet they are far from being completed prepared. Barbados‘ risk management performance is superior, in comparison, to the majority of the countries of the region. However, is still far in achieving high performance levels and sustainability in risk management, primarily when it has the highest gap between potential macroeconomic and financial losses and the ability to face them. The Dominican Republic has shown steady risk performance up to 2008, but two remaining areas for improvement are hazard monitoring and early warning systems. Jamaica has made uneven advances between 1990 and 2008, requiring significant improvements to achieve high performance levels and sustainability in risk management, as well as macroeconomic mitigation infrastructure. Trinidad and Tobago has the lowest risk management score of the 15 countries in the Latin American and Caribbean region as assessed by the IADB study in 2010, yet it has experienced an important vulnerability reduction. In sum, the results confirmed the high disaster risk management disparity in the Caribbean region.
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The Earth's upper mantle, mainly composed of olivine, is seismically anisotropic. Seismic anisotropy attenuation has been observed at 220km depth. Karato et al. (1992) attributed this attenuation to a transition between two deformation mechanisms, from dislocation creep above 220km to diffusion creep below 220km, induced by a change in water content. Couvy (2005) and Mainprice et al. (2005) predicted a change in Lattice Preferred Orientation induced by pressure, which comes from a change of slip system, from [100] slip to [001] slip, and is responsible for the seismic anisotropy attenuation. Raterron et al. (2007) ran single crystal deformation experiments under anhydrous conditions and observed that the slip system transition occurs around 8GPa, which corresponds to a depth of 260Km. Experiments were done to quantify the effects of water on olivine single crystals deformed using D-DIA press and synchrotron beam. Deformations were carried out in uniaxial compression along [110]c, [011]c, and [101]c, crystallographic directions, at pressure ranging from 4 to 8GPa and temperature between 1373 and 1473K. Talc sleeves about the annulus of the single crystals were used as source of water in the assembly. Stress and specimen strain rates were calculated by in-situ X-ray diffraction and time resolved imaging, respectively. By direct comparison of single crystals strain rates, we observed that [110]c deforms faster than [011]c below 5GPa. However above 6GPa [011]c deforms faster than [110]c. This revealed that [100](010) is the dominant slip system below 5GPa, and above 6GPa [001](010) becomes dominant. According to our results, the slip system transition, which is induced by pressure, occurs at 6GPa. Water influences the pressure where the switch over occurs, by lowering the transition pressure. The pressure effect on the slip systems activity has been quantified and the hydrolytic weakening has also been estimated for both orientations. Data also shows that temperature affects the slip system activity. The regional variation of the depth for the seismic anisotropy attenuation, which would depend on local hydroxyl content and temperature variations and explains the seismic anisotropy attenuation occurring at about 220Km depth in the mantle, where the pressure is about 6GPa. Deformation of MgO single crystal oriented [100], [110] and [111] were also performed. The results predict a change in the slip system activity at 23GPa, again induced by pressure. This explains the seismic anisotropy observed in the lower mantle.
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This study on risk and disaster management capacities of four Caribbean countries: Barbados, the Dominican Republic, Jamaica, and Trinidad and Tobago, examines three main dimensions: 1) the impact of natural disasters from 1900 to 2010 (number of events, number of people killed, total number affected, and damage in US$); 2) institutional assessments of disaster risk management disparity; and 3) the 2010 Inter-American Bank for Development (IADB) Disaster Risk and Risk Management indicators for the countries under study. The results show high consistency among the different sources examined, pointing out the need to extend the IADB measurements to the rest of the Caribbean countries. Indexes and indicators constitute a comparison measure vis-à-vis existing benchmarks in order to anticipate a capacity to deal with adverse events and their consequences; however, the indexes and indicators could only be tested against the occurrence of a real event. Therefore, the need exists to establish a sustainable and comprehensive evaluation system after important disasters to assess a country’s performance, verify the indicators, and gain feedback on measurement systems and methodologies. There is diversity in emergency and preparedness for disasters in the four countries under study. The nature of the event (hurricanes, earthquakes, floods, and seismic activity), especially its frequency and the intensity of the damage experienced, is related to how each has designed its risk and disaster management policies and programs to face natural disasters. Vulnerabilities to disaster risks have been increasing, among other factors, because of uncontrolled urbanization, demographic density and poverty increase, social and economic marginalization, and lack of building code enforcement. The four countries under study have shown improvements in risk management capabilities, yet they are far from being completed prepared. Barbados’ risk management performance is superior, in comparison, to the majority of the countries of the region. However, is still far in achieving high performance levels and sustainability in risk management, primarily when it has the highest gap between potential macroeconomic and financial losses and the ability to face them. The Dominican Republic has shown steady risk performance up to 2008, but two remaining areas for improvement are hazard monitoring and early warning systems. Jamaica has made uneven advances between 1990 and 2008, requiring significant improvements to achieve high performance levels and sustainability in risk management, as well as macroeconomic mitigation infrastructure. Trinidad and Tobago has the lowest risk management score of the 15 countries in the Latin American and Caribbean region as assessed by the IADB study in 2010, yet it has experienced an important vulnerability reduction. In sum, the results confirmed the high disaster risk management disparity in the Caribbean region.