2,942 research outputs found

    Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia

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    Published Online First 26 April 2009Background and objectives: Gastro-oesophageal reflux disease (GORD) is a common gastrointestinal disorder with a genetic component. Our aim was to identify genetic factors associated with GORD. Patients and methods: Four separate patient cohorts were analysed using a step-wise approach. (1) Whole genome linkage analysis was performed in 36 families. (2) Candidate genes were tested for GORD association in a trio cohort. (3) Genetic association was replicated in a case–control cohort. We also investigated genetic association to hiatus hernia (HH). (4) Protein expression was analysed in oesophageal biopsies. Results: A region on chromosome 2, containing collagen type III alpha 1 (COL3A1), was identified (LOD = 3.3) in families with dominant transmission of GORD, stratified for hiatus hernia (HH). COL3A1 showed significant association with GORD in an independent paediatric trio cohort (pcorr = 0.003). The association was male specific (pcorr = 0.018). The COL3A1 association was replicated in an independent adult case control cohort (pcorr = 0.022). Moreover, male specific association to HH (pcorr = 0.019) was found for a SNP not associated to GORD. Collagen type III protein was more abundant in oesophageal biopsies from male patients with GORD (p = 0.03). Conclusion: COL3A1 is a disease-associated gene in both paediatric and adult GORD. Furthermore, we show that COL3A1 is genetically associated with HH in adult males. The GORD- and HH-associated alleles are different, indicating two separate mechanisms leading to disease. Our data provides new insight into GORD aetiology, identifying a connective tissue component and indicating a tissue remodelling mechanism in GORD. Our results implicate gender differences in the genetic risk for both for GORD and HH.B Åsling, J Jirholt, P Hammond, M Knutsson, A Walentinsson, G Davidson, L Agreus, A Lehmann, M Lagerström-Ferme

    Control of triceps surae stimulation based on shank orientation using a uniaxial gyroscope during gait

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    This article presents a stimulation control method using a uniaxial gyroscope measuring angular velocity of the shank in the sagittal plane, to control functional electrical stimulation of the triceps surae to improve push-off of stroke subjects during gait. The algorithm is triggered during each swing phase of gait when the angular velocity of the shank is relatively high. Subsequently, the start of the stance phase is detected by a change of sign of the gyroscope signal at approximately the same time as heel strike. Stimulation is triggered when the shank angle reaches a preset value since the beginning of stance. The change of angle is determined by integrating angular velocity from the moment of change of sign. The results show that the real-time reliability of stimulation control was at least 95% for four of the five stroke subjects tested, two of which were 100% reliable. For the remaining subject, the reliability was increased from 50% found during the experiment, to 99% during offline processing. Our conclusion is that a uniaxial gyroscope on the shank is a simple, more reliable alternative to the heel switch for the purpose of restoring push-off of stroke subjects during gait

    The CCFM Monte Carlo generator CASCADE 2.2.0

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    CASCADE is a full hadron level Monte Carlo event generator for ep, \gamma p and p\bar{p} and pp processes, which uses the CCFM evolution equation for the initial state cascade in a backward evolution approach supplemented with off - shell matrix elements for the hard scattering. A detailed program description is given, with emphasis on parameters the user wants to change and variables which completely specify the generated events

    Hyperbolic planforms in relation to visual edges and textures perception

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    We propose to use bifurcation theory and pattern formation as theoretical probes for various hypotheses about the neural organization of the brain. This allows us to make predictions about the kinds of patterns that should be observed in the activity of real brains through, e.g. optical imaging, and opens the door to the design of experiments to test these hypotheses. We study the specific problem of visual edges and textures perception and suggest that these features may be represented at the population level in the visual cortex as a specific second-order tensor, the structure tensor, perhaps within a hypercolumn. We then extend the classical ring model to this case and show that its natural framework is the non-Euclidean hyperbolic geometry. This brings in the beautiful structure of its group of isometries and certain of its subgroups which have a direct interpretation in terms of the organization of the neural populations that are assumed to encode the structure tensor. By studying the bifurcations of the solutions of the structure tensor equations, the analog of the classical Wilson and Cowan equations, under the assumption of invariance with respect to the action of these subgroups, we predict the appearance of characteristic patterns. These patterns can be described by what we call hyperbolic or H-planforms that are reminiscent of Euclidean planar waves and of the planforms that were used in [1, 2] to account for some visual hallucinations. If these patterns could be observed through brain imaging techniques they would reveal the built-in or acquired invariance of the neural organization to the action of the corresponding subgroups.Comment: 34 pages, 11 figures, 2 table

    Restoring Rangelands for Nutrition and Health for Humans and Livestock

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    Drylands cover 40% of the global land area and host 2 billion people, of which 90% live in low- or middleincome countries. Drylands often face severe land degradation, low agricultural productivity, rapid population growth, widespread poverty, and poor health. Governance structures and institutions are often eroded. Livestock-based livelihoods, largely depending on seasonal migration are common. Pastoralist communities and their land are highly vulnerable to climate shocks, while there are also changes in land tenure, insecurity/conflicts and rapid infrastructure development. Drylands Transform is an interdisciplinary research project revolving around the UN Sustainable Development Goals (SDGs). The project aim is to contribute new knowledge to a transformative change and sustainable development of drylands in East Africa to help escape the ongoing negative spiral of land, livestock and livelihood degradation. We investigate the links between land health, livelihoods, human well-being, and land management and governance with several study sites along the Kenya-Uganda border. Through strong stakeholder engagement we will explore challenges and pathways towards a social-ecological transformation in these drylands. The entry point is the urgent need to identify and enhance synergies between food and nutrition security (SDG2), land and ecosystem health (SDG15) and governance and justice (SDG16) for sustainable dryland development, aiming to improve health and equity (SDGs 3 and 5), while minimizing trade-offs between agricultural productivity, natural resources management and climate change. We are using innovative field research approaches focusing on livelihood improvement through rangeland (grazing areas) restoration and governance interventions. We will present results from the initial work to assess land health using the Land Degradation Surveillance Framework and explore the links with human health and well-being through household survey data. We will also show how we will co-develop sustainable dryland management options (e.g., field experiments with fodder grasses and shrubs) with local communities and set-up knowledge sharing hubs
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