982 resultados para FACTOR-VII DEFICIENCY


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We tested the capacity of several published multispectral indices to estimate the nitrogen nutrition of wheat canopies grown under different levels of water supply and plant density and derived a simple canopy reflectance index that is greatly independent of those factors. Planar domain geometry was used to account for mixed signals from the canopy and soil when the ground cover was low. A nitrogen stress index was developed, which adjusts shoot %N for plant biomass and area, thereby accounting for environmental conditions that affect growth, such as crop water status. The canopy chlorophyll content index (CCCi) and the modified spectral ratio planar index (mSRPi) could explain 68 and 69% of the observed variability in the nitrogen nutrition of the crop as early as Zadoks 33, irrespective of water status or ground cover. The CCCi was derived from the combination of 3 wavebands 670, 720 and 790 nm, and the mSRPi from 445, 705 and 750 nm, together with broader bands in the NIR and RED. The potential for their spatial application over large fields/paddocks is discussed.

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Modeling of cultivar x trial effects for multienvironment trials (METs) within a mixed model framework is now common practice in many plant breeding programs. The factor analytic (FA) model is a parsimonious form used to approximate the fully unstructured form of the genetic variance-covariance matrix in the model for MET data. In this study, we demonstrate that the FA model is generally the model of best fit across a range of data sets taken from early generation trials in a breeding program. In addition, we demonstrate the superiority of the FA model in achieving the most common aim of METs, namely the selection of superior genotypes. Selection is achieved using best linear unbiased predictions (BLUPs) of cultivar effects at each environment, considered either individually or as a weighted average across environments. In practice, empirical BLUPs (E-BLUPs) of cultivar effects must be used instead of BLUPs since variance parameters in the model must be estimated rather than assumed known. While the optimal properties of minimum mean squared error of prediction (MSEP) and maximum correlation between true and predicted effects possessed by BLUPs do not hold for E-BLUPs, a simulation study shows that E-BLUPs perform well in terms of MSEP.

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The constraint factor, C (given by the hardness-yield strength ratio H/Y in the fully lastic regime of indentation), in metallic glasses, is greater than three, a reflection of the sensitivity of their plastic flow to pressure. Furthermore, C increases with increasing temperature. In this work, we examine if this is true in amorphous polymers as well, through experiments on amorphous poly(methyl methacrylate) (PMMA). Uniaxial compression as well as spherical indentation tests were conducted in the 248-348 K range to construct H/Y versus indentation strain plots at each temperature and obtain the C-values. Results show that C increases with temperature in PMMA as well. Good correlation between the loss factors, measured using a dynamic mechanical analyzer, and C, suggest that the enhanced sensitivity to pressure is possibly due to beta-relaxation. We offer possible mechanistic reasons for the observed trends in amorphous materials in terms of relaxation processes.

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Bearing capacity factor N-c for axially loaded piles in clays whose cohesion increases linearly with depth has been estimated numerically under undrained (phi=0) condition. The Study follows the lower bound limit analysis in conjunction With finite elements and linear programming. A new formulation is proposed for solving an axisymmetric geotechnical stability problem. The variation of N-c with embedment ratio is obtained for several rates of the increase of soil cohesion with depth; a special case is also examined when the pile base was placed on the stiff clay stratum overlaid by a soft clay layer. It was noticed that the magnitude of N-c reaches almost a constant value for embedment ratio greater than unity. The roughness of the pile base and shaft affects marginally the magnitudes of N-c. The results obtained from the present study are found to compare quite well with the different numerical solutions reported in the literature.

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We obtain stringent bounds in the < r(2)>(K pi)(S)-c plane where these are the scalar radius and the curvature parameters of the scalar K pi form factor, respectively, using analyticity and dispersion relation constraints, the knowledge of the form factor from the well-known Callan-Treiman point m(K)(2)-m(pi)(2), as well as at m(pi)(2)-m(K)(2), which we call the second Callan-Treiman point. The central values of these parameters from a recent determination are accomodated in the allowed region provided the higher loop corrections to the value of th form factor at the second Callan-Treiman point reduce the one-loop result by about 3% with F-K/F-pi = 1.21. Such a variation in magnitude at the second Callan-Treiman point yields 0.12 fm(2) less than or similar to < r(2)>(K pi)(S) less than or similar to 0.21 fm(2) and 0.56 GeV-4 less than or similar to c less than or similar to 1.47 GeV-4 and a strong correlation between them. A smaller value of F-K/F-pi shifts both bounds to lower values.

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We study the constraints arising on the expansion parameters c and d of the pion electromagnetic form factor from the inclusion of pure spacelike data and the phase of timelike data along with one spacelike datum, using as input the first derivative of the QCD polarization amplitude Pi'(-Q(2)). These constraints when combined with other analyses, provide a valuable check on a determination of c due to Guo et al. and on our previous work where pionic contribution to the (g - 2) of the muon was used as the input. This work further illustrates the power of analyticity techniques in form factor analysis.

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BACKGROUND OR CONTEXT Thermodynamics is a core concept for mechanical engineers yet notoriously difficult. Evidence suggests students struggle to understand and apply the core fundamental concepts of thermodynamics with analysis indicating a problem with student learning/engagement. A contributing factor is that thermodynamics is a ‘science involving concepts based on experiments’ (Mayhew 1990) with subject matter that cannot be completely defined a priori. To succeed, students must engage in a deep-holistic approach while taking ownership of their learning. The difficulty in achieving this often manifests itself in students ‘not getting’ the principles and declaring thermodynamics ‘hard’. PURPOSE OR GOAL Traditionally, students practice and “learn” the application of thermodynamics in their tutorials, however these do not consider prior conceptions (Holman & Pilling 2004). As ‘hands on’ learning is the desired outcome of tutorials it is pertinent to study methods of improving their efficacy. Within the Australian context, the format of thermodynamics tutorials has remained relatively unchanged over the decades, relying anecdotally on a primarily didactic pedagogical approach. Such approaches are not conducive to deep learning (Ramsden 2003) with students often disengaged from the learning process. Evidence suggests (Haglund & Jeppsson 2012), however, that a deeper level and ownership of learning can be achieved using a more constructivist approach for example through self generated analogies. This pilot study aimed to collect data to support the hypothesis that the ‘difficulty’ of thermodynamics is associated with the pedagogical approach of tutorials rather than actual difficulty in subject content or deficiency in students. APPROACH Successful application of thermodynamic principles requires solid knowledge of the core concepts. Typically, tutorial sessions guide students in this application. However, a lack of deep and comprehensive understanding can lead to student confusion in the applications resulting in the learning of the ‘process’ of application without understanding ‘why’. The aim of this study was to gain empirical data on student learning of both concepts and application, within thermodynamic tutorials. The approach taken for data collection and analysis was: - 1 Four concurrent tutorial streams were timetabled to examine student engagement/learning in traditional ‘didactic’ (3 weeks) and non-traditional (3 weeks). In each week, two of the selected four sessions were traditional and two non-traditional. This provided a control group for each week. - 2 The non-traditional tutorials involved activities designed to promote student-centered deep learning. Specific pedagogies employed were: self-generated analogies, constructivist, peer-to-peer learning, inquiry based learning, ownership of learning and active learning. - 3 After a three-week period, teaching styles of the selected groups was switched, to allow each group to experience both approaches with the same tutor. This also acted to mimimise any influence of tutor personality / style on the data. - 4 At the conclusion of the trial participants completed a ‘5 minute essay’ on how they liked the sessions, a small questionnaire, modelled on the modified (Christo & Hoang, 2013)SPQ designed by Biggs (1987) and a small formative quiz to gauge the level of learning achieved. DISCUSSION Preliminary results indicate that overall students respond positively to in class demonstrations (inquiry based learning), and active learning activities. Within the active learning exercises, the current data suggests students preferred individual rather than group or peer-to-peer activities. Preliminary results from the open-ended questions such as “What did you like most/least about this tutorial” and “do you have other comments on how this tutorial could better facilitate your learning”, however, indicated polarising views on the nontraditional tutorial. Some student’s responded that they really like the format and emphasis on understanding the concepts, while others were very vocal that that ‘hated’ the style and just wanted the solutions to be presented by the tutor. RECOMMENDATIONS/IMPLICATIONS/CONCLUSION Preliminary results indicated a mixed, but overall positive response by students with more collaborative tutorials employing tasks promoting inquiry based, peer-to-peer, active, and ownership of learning activities. Preliminary results from student feedback supports evidence that students learn differently, and running tutorials focusing on only one pedagogical approached (typically didactic) may not be beneficial to all students. Further, preliminary data suggests that the learning / teaching style of both students and tutor are important to promoting deep learning in students. Data collection is still ongoing and scheduled for completion at the end of First Semester (Australian academic calendar). The final paper will examine in more detail the results and analysis of this project.

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This paper presents a new algorithm for the step-size change of instantaneous adaptive delta modulator. The present strategy is such that the step-size at any sampling instant can increase or decrease by either of the two constant factors or can remain the same, depending upon the combination of three or four most recent output bits. The quantizer has been simulated on a digital computer, and its performance compared with other quantizers. The figure of merit used is the SNR with gaussian signals as the input. The results indicate that the new design can give an improved SNR over a wider dynamic range and fast response to step inputs, as compared to the earlier systems.

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Cathepsin D (CTSD) is a lysosomal protease, the deficiency of which is fatal and associated with neurodegeneration. CTSD knock-out mice, which die at the age of four weeks, show intestinal necrosis, loss of lymphoid cells and moderate pathological changes in the brain. An active-site mutation in the CTSD gene underlies a neurodegenerative disease in newborn sheep, characterized by brain atrophy without any changes to visceral tissues. The CTSD deficiences belong to the group of neuronal ceroid-lipofuscinoses (NCLs), severe neurodegenerative lysosomal storage disorders. The aim of this thesis was to examine the molecular and cellular mechanisms behind neurodegeneration in CTSD deficiency. We found the developmental expression pattern of CTSD to resemble that of synaptophysin and the increasing expression of CTSD to coincide with the active period of myelination in the rat brain, suggesting a role for CTSD in early rat brain development. An active-site mutation underlying the congenital ovine NCL not only affected enzymatic activity, but also changed the stability, processing and transport of the mutant protein, possibly contributing to the disease pathogenesis. We also provide CTSD deficiency as a first molecular explanation for human congenital NCL, a lysosomal storage disorder, characterized by neuronal loss and demyelination in the central nervous system. Finally, we show the first evidence for synaptic abnormalities and thalamocortical changes in CTSD-deficient mice at the molecular and ultrastructural levels. Keywords: cathepsin D, congenital, cortex, lysosomal storage disorder, lysosome, mutation, neurodegeneration, neuronal ceroid-lipofuscinosis, overexpression, synapse, thalamus

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The mitochondrion is an organelle of outmost importance, and the mitochondrial network performs an array of functions that go well beyond ATP synthesis. Defects in mitochondrial performance lead to diseases, often affecting nervous system and muscle. Although many of these mitochondrial diseases have been linked to defects in specific genes, the molecular mechanisms underlying the pathologies remain unclear. The work in this thesis aims to determine how defects in mitochondria are communicated within - and interpreted by - the cells, and how this contributes to disease phenotypes. Fumarate hydratase (FH) is an enzyme of the citrate cycle. Recessive defects in FH lead to infantile mitochondrial encephalopathies, while dominant mutations predispose to tumor formation. Defects in succinate dehydrogenase (SDH), the enzyme that precedes FH in the citrate cycle, have also been described. Mutations in SDH subunits SDHB, SDHC and SDHD are associated with tumor predisposition, while mutations in SDHA lead to a characteristic mitochondrial encephalopathy of childhood. Thus, the citrate cycle, via FH and SDH, seems to have essential roles in mitochondrial function, as well as in the regulation of processes such as cell proliferation, differentiation or death. Tumor predisposition is not a typical feature of mitochondrial energy deficiency diseases. However, defects in citrate cycle enzymes also affect mitochondrial energy metabolism. It is therefore necessary to distinguish what is specific for defects in citrate cycle, and thus possibly associated with the tumor phenotype, from the generic consequences of defects in mitochondrial aerobic metabolism. We used primary fibroblasts from patients with recessive FH defects to study the cellular consequences of FH-deficiency (FH-). Similarly to the tumors observed in FH- patients, these fibroblasts have very low FH activity. The use of primary cells has the advantage that they are diploid, in contrast with the aneuploid tumor cells, thereby enabling the study of the early consequences of FH- in diploid background, before tumorigenesis and aneuploidy. To distinguish the specific consequences of FH- from typical consequences of defects in mitochondrial aerobic metabolism, we used primary fibroblasts from patients with MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) and from patients with NARP (neuropathy, ataxia and retinitis pigmentosa). These diseases also affect mitochondrial aerobic metabolism but are not known to predispose to tumor formation. To study in vivo the systemic consequences of defects in mitochondrial aerobic metabolism, we used a transgenic mouse model of late-onset mitochondrial myopathy. The mouse contains a transgene with an in-frame duplication of a segment of Twinkle, the mitochondrial replicative helicase, whose defects underlie the human disease progressive external ophthalmoplegia. This mouse model replicates the phenotype in the patients, particularly neuronal degeneration, mitochondrial myopathy, and subtle decrease of respiratory chain activity associated with mtDNA deletions. Due to the accumulation of mtDNA deletions, the mouse was named deletor. We first studied the consequences of FH- and of respiratory chain defects for energy metabolism in primary fibroblasts. To further characterize the effects of FH- and respiratory chain malfunction in primary fibroblasts at transcriptional level, we used expression microarrays. In order to understand the in vivo consequences of respiratory chain defects in vivo, we also studied the transcriptional consequences of Twinkle defects in deletor mice skeletal muscle, cerebellum and hippocampus. Fumarate accumulated in the FH- homozygous cells, but not in the compound heterozygous lines. However, virtually all FH- lines lacked cytoplasmic FH. Induction of glycolysis was common to FH-, MELAS and NARP fibroblasts. In deletor muscle glycolysis seemed to be upregulated. This was in contrast with deletor cerebellum and hippocampus, where mitochondrial biogenesis was in progress. Despite sharing a glycolytic pattern in energy metabolism, FH- and respiratory chain defects led to opposite consequences in redox environment. FH- was associated with reduced redox environment, while MELAS and NARP displayed evidences of oxidative stress. The deletor cerebellum had transcriptional induction of antioxidant defenses, suggesting increased production of reactive oxygen species. Since the fibroblasts do not represent the tissues where the tumors appear in FH- patients, we compared the fibroblast array data with the data from FH- leiomyomas and normal myometrium. This allowed the determination of the pathways and networks affected by FH-deficiency in primary cells that are also relevant for myoma formation. A key pathway regulating smooth muscle differentiation, SRF (serum response factor)-FOS-JUNB, was found to be downregulated in FH- cells and in myomas. While in the deletor mouse many pathways were affected in a tissue-specific basis, like FGF21 induction in the deletor muscle, others were systemic, such as the downregulation of ALAS2-linked heme synthesis in all deletor tissues analyzed. However, interestingly, even a tissue-specific response of FGF21 excretion could elicit a global starvation response. The work presented in this thesis has contributed to a better understanding of mitochondrial stress signalling and of pathways interpreting and transducing it to human pathology.

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The structural integrity of any member subjected to a load gets impaired due to the presence of cracks or crack-like defects. The notch severity is one of the several parameters that promotes the brittle fracture. The most severe one is an ideal crack with infinitesimal width and infinitesimal or zero root radius. Though analytical investigations can handle an ideal crack, experimental work, either to validate the analytical conclusions or to impose the bounds, needs to be carried out on models or specimens containing the cracks which are far from the ideal ones. Thus instead of an ideal crack with infinitesimal width the actual model will have a slot or a slit of finite width and instead of a crack ending in zero root radius, the model contains a slot having a finite root radius. Another factor of great significance at the root is the notch angle along which the transition from the slot to the root takes place. This paper is concerned with the photoelastic determination of the notch stress intensity factor in the case of a “crack” subjected to Mode 1 deformation.

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Abstract is not available.