162 research outputs found

    A qualitative analysis of the interfaces between urban underground metro infrastructure and its environment in London

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    As urban environments densify and cities across the world employ urban underground metros for the effective rapid movement of millions of people a day, there is an essential need to ensure the safe continued presence and operation of those metros. To achieve this, the authors argue there is a need for a more detailed qualitative analysis of how urban underground metro infrastructure and its environment interface. Failure to do so could potentially lead to the development of inaccurate asset management data. This would subsequently lead to the implementation of flawed Building Information Modelling processes for 2, 3, and 4D modelling and mapping, of existing and proposed infrastructure. Following a review of existing asset management approaches which confirms the need for qualitative approaches to the analyses of the interfaces, this paper presents findings from a detailed case study, in the Bayswater area of the City of Westminster in West London, UK.The processes employed for the detailed case study form part of proposed (ultimately) standardised approaches to the gathering, analysis, and sharing, of multi-disciplinary evidence-based data, developed by the authors. Such data is essential to enable effective asset and urban management processes, now and for the future

    Adaptively monitoring streamflow using a stereo computer vision system

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    The gauging of free surface flows in waterways provides the foundation for monitoring and managing the water resources of built and natural environments. A significant body of literature exists around the techniques and benefits of optical surface velocimetry methods to estimate flows in waterways without intrusive instruments or structures. However, to date, the operational application of these surface velocimetry methods has been limited by site configuration and inherent challenging optical variability across different natural and constructed waterway environments. This work demonstrates a significant advancement in the operationalisation of non-contact stream discharge gauging applied in the computer vision stream gauging (CVSG) system through the use of methods for remotely estimating water levels and adaptively learning discharge ratings over time. A cost-effective stereo camera-based stream gauging device (CVSG device) has been developed for streamlined site deployments and automated data collection. Evaluations between reference state-of-the-art discharge measurement technologies using DischargeLab (using surface structure image velocimetry), Hydro-STIV (using space–time image velocimetry), acoustic Doppler current profilers (ADCPs), and gauging station discharge ratings demonstrated that the optical surface velocimetry methods were capable of estimating discharge within a 5 %–15 % range between these best available measurement approaches. Furthermore, results indicated model machine learning approaches leveraging data to improve performance over a period of months at the study sites produced a marked 5 %–10 % improvement in discharge estimates, despite underlying noise in stereophotogrammetry water level or optical flow measurements. The operationalisation of optical surface velocimetry technology, such as CVSG, offers substantial advantages towards not only improving the overall density and availability of data used in stream gauging, but also providing a safe and non-contact approach for effectively measuring high-flow rates while providing an adaptive solution for gauging streams with non-stationary characteristics.</p

    Using web 2.0 tools to create customized research portals

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    The Information Resources team within the School of Health and Related Research (ScHARR) at the University of Sheffield has a long-standing interest in the application of new and emerging Web 2.0 technologies for research, learning, and teaching. In early 2008, members of the group began to discuss the development of customized web portals, also referred to as personal start pages, to aggregate various streams of specialist information relevant to researchers within the School and in the wider National Health Service (NHS) research community. This paper documents the background to the portals, their development, and reflects on the challenges and issues the team encountered. © Taylor & Francis Group, LLC

    A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

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    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected individuals. This motif was associated with additional clinical features including fasciculations and elevated serum creatine kinase. These features have not previously been described in individuals with genetically-confirmed CANVAS. Haplotype analysis showed our patients shared the same core haplotype as previously published, supporting the possibility of a single origin of the RFC1 disease allele. We analysed data from >26 000 genetically diverse individuals in gnomAD to show enrichment of (ACAGG) in non-European populations

    Referrals to a facial pain service

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    AIM: To assess the quality of referral letters to a facial pain service and highlight the key requirements of such letters. METHOD: The source of all referral letters to the service for five years was established. For one year the information provided in 94 referrals was assessed. Using a predetermined checklist of essential information the referral letters were compared to these set criteria. RESULTS: The service received 7,001 referrals and, on average, general dental practitioners (GDPs) referred 303 more patients per year than general medical practitioners (GMPs). Seventy-one percent of all referrals were from primary care practitioners, the rest were from specialists. Over 70% of GMP and 52% of GDP letters included a past medical history, with GMPs more likely to suggest a possible diagnosis and include previous secondary care referrals. The mean score for GMP referrals compared to the standard proforma (maximum of 12) was 5.6 and for GDP referrals 5.0. A relevant drug history was included by 75.6% GMP compared to 38.7% of GDPs. GMPs were more likely to include any relevant mental health history. CONCLUSIONS: The overall quality of referral letters is low which makes it difficult for the specialists to provide robust treatment plans

    SCAMP:standardised, concentrated, additional macronutrients, parenteral nutrition in very preterm infants: a phase IV randomised, controlled exploratory study of macronutrient intake, growth and other aspects of neonatal care

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    <p>Abstract</p> <p>Background</p> <p>Infants born <29 weeks gestation are at high risk of neurocognitive disability. Early postnatal growth failure, particularly head growth, is an important and potentially reversible risk factor for impaired neurodevelopmental outcome. Inadequate nutrition is a major factor in this postnatal growth failure, optimal protein and calorie (macronutrient) intakes are rarely achieved, especially in the first week. Infants <29 weeks are dependent on parenteral nutrition for the bulk of their nutrient needs for the first 2-3 weeks of life to allow gut adaptation to milk digestion. The prescription, formulation and administration of neonatal parenteral nutrition is critical to achieving optimal protein and calorie intake but has received little scientific evaluation. Current neonatal parenteral nutrition regimens often rely on individualised prescription to manage the labile, unpredictable biochemical and metabolic control characteristic of the early neonatal period. Individualised prescription frequently fails to translate into optimal macronutrient delivery. We have previously shown that a standardised, concentrated neonatal parenteral nutrition regimen can optimise macronutrient intake.</p> <p>Methods</p> <p>We propose a single centre, randomised controlled exploratory trial of two standardised, concentrated neonatal parenteral nutrition regimens comparing a standard macronutrient content (maximum protein 2.8 g/kg/day; lipid 2.8 g/kg/day, dextrose 10%) with a higher macronutrient content (maximum protein 3.8 g/kg/day; lipid 3.8 g/kg/day, dextrose 12%) over the first 28 days of life. 150 infants 24-28 completed weeks gestation and birthweight <1200 g will be recruited. The primary outcome will be head growth velocity in the first 28 days of life. Secondary outcomes will include a) auxological data between birth and 36 weeks corrected gestational age b) actual macronutrient intake in first 28 days c) biomarkers of biochemical and metabolic tolerance d) infection biomarkers and other intravascular line complications e) incidence of major complications of prematurity including mortality f) neurodevelopmental outcome at 2 years corrected gestational age</p> <p>Trial registration</p> <p>Current controlled trials: <a href="http://www.controlled-trials.com/ISRCTN76597892">ISRCTN76597892</a>; EudraCT Number: 2008-008899-14</p

    Metastable liquid-liquid phase transition in a single-component system with only one crystal phase and no density anomaly

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    We investigate the phase behavior of a single-component system in 3 dimensions with spherically-symmetric, pairwise-additive, soft-core interactions with an attractive well at a long distance, a repulsive soft-core shoulder at an intermediate distance, and a hard-core repulsion at a short distance, similar to potentials used to describe liquid systems such as colloids, protein solutions, or liquid metals. We showed [Nature {\bf 409}, 692 (2001)] that, even with no evidences of the density anomaly, the phase diagram has two first-order fluid-fluid phase transitions, one ending in a gas--low-density liquid (LDL) critical point, and the other in a gas--high-density liquid (HDL) critical point, with a LDL-HDL phase transition at low temperatures. Here we use integral equation calculations to explore the 3-parameter space of the soft-core potential and we perform molecular dynamics simulations in the interesting region of parameters. For the equilibrium phase diagram we analyze the structure of the crystal phase and find that, within the considered range of densities, the structure is independent of the density. Then, we analyze in detail the fluid metastable phases and, by explicit thermodynamic calculation in the supercooled phase, we show the absence of the density anomaly. We suggest that this absence is related to the presence of only one stable crystal structure.Comment: 15 pages, 21 figure

    Somatic diseases in patients with schizophrenia in general practice: their prevalence and health care

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    BACKGROUND: Schizophrenia patients frequently develop somatic co-morbidity. Core tasks for GPs are the prevention and diagnosis of somatic diseases and the provision of care for patients with chronic diseases. Schizophrenia patients experience difficulties in recognizing and coping with their physical problems; however GPs have neither specific management policies nor guidelines for the diagnosis and treatment of somatic co-morbidity in schizophrenia patients. This paper systematically reviews the prevalence and treatment of somatic co-morbidity in schizophrenia patients in general practice. METHODS: The MEDLINE, EMBASE, PsycINFO data-bases and the Cochrane Library were searched and original research articles on somatic diseases of schizophrenia patients and their treatment in the primary care setting were selected. RESULTS: The results of this search show that the incidence of a wide range of diseases, such as diabetes mellitus, the metabolic syndrome, coronary heart diseases, and COPD is significantly higher in schizophrenia patients than in the normal population. The health of schizophrenic patients is less than optimal in several areas, partly due to their inadequate help-seeking behaviour. Current GP management of such patients appears not to take this fact into account. However, when schizophrenic patients seek the GP's help, they value the care provided. CONCLUSION: Schizophrenia patients are at risk of undetected somatic co-morbidity. They present physical complaints at a late, more serious stage. GPs should take this into account by adopting proactive behaviour. The development of a set of guidelines with a clear description of the GP's responsibilities would facilitate the desired changes in the management of somatic diseases in these patients

    Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

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    Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to use for each splicing context remains difficult. Here, we describe Introme, which uses machine learning to integrate predictions from several splice detection tools, additional splicing rules, and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. Through extensive benchmarking across 21,000 splice-altering variants, Introme outperformed all tools (auPRC: 0.98) for the detection of clinically significant splice variants. Introme is available at https://github.com/CCICB/introme .Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, and Mark J. Cowle

    Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

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    Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist
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