74 research outputs found

    Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

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    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5–4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Zmean = 3.9, p < 0.0001; HLOD = 3.3, α = 0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1

    Web3-based role and token data access: the case of building material passports

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    Long-term access to lifecycle data is key to a successful transition towards a circular built environment. However, the underlying technology often remains centralized and risks becoming inaccessible over time. In this paper, we investigate whether decentralized access methods using Web3, i.e. blockchain and decentralized data storage protocols, can help to mitigate this limitation. We implement Web3 data access mechanisms for a material passport with both a role-based and a token-based smart contract. Initial results suggest that Web3 offers a promising approach to data access over the lifecycle of a built asset-but only with careful design choices.Integral Design & ManagementDesign & Construction Managemen

    Correction to: International Alliance of Urolithiasis (IAU) consensus on miniaturized percutaneous nephrolithotomy (Military Medical Research, (2024), 11, 1, (70), 10.1186/s40779-024-00562-3)

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    After publication of the article, it was brought to our attention that the author name Otas Durutovic was duplicated in the author list and the second one should be replaced by the author Chu Ann Chai, and the affiliations of Ji-Wen Cheng and Chu Ann Chai are incorrect, the correct author list with correct affiliations is shown below: Guo-Hua Zeng, Wen Zhong, Giorgio Mazzon, Wei Zhu, Sven Lahme, Sanjay Khadgi, Janak Desai, Madhu Agrawal, David Schulsinger, Mantu Gupta, Emanuele Montanari, Juan Manuel Lopez Martinez, Shabir Almousawi, Vincent Emanuel F. Malonzo, Seshadri Sriprasad, Otas Durutovic, Vimoshan Arumuham, Stefania Ferretti, Wissam Kamal, Ke-Wei Xu, Fan Cheng, Xiao-Feng Gao, Ji-Wen Cheng, Bhaskar Somani, Mordechai Duvdevani, Kah Ann Git, Christian Seitz, Norberto Bernardo, Tarek Ahmed Amin Ibrahim, Albert Aquino, Takahiro Yasui, Cristian Fiori, Thomas Knoll, Athanasios Papatsoris, Nariman Gadzhiev, Ulanbek Zhanbyrbekuly, Oriol Angerri, Hugo Lopez Ramos, Iliya Saltirov, Mohamad Moussa, Guido Giusti, Fabio Vicentini, Edgar Beltran Suarez, Margaret Pearle, Glenn M. Preminger, Qing-Hui Wu, Chu Ann Chai, Khurshid Ghani, Marcus Maroccolo, Marianne Brehmer, Palle J. Osther, Marek Zawadzki, Azimdjon Tursunkulov, Monolov Nurbek Kytaibekovich, Abdusamad Abdukakhorovich Abuvohidov, Cesar Antonio Recalde Lara, Zamari Noori, Stefano Paolo Zanetti, Sunil Shrestha, Jean de la Rosette, John Denstedt, Zhang-Qun Ye, Kemal Sarica &amp; Simon Choong. The original publication has been updated. © The Author(s) 2024

    Correction: International Alliance of Urolithiasis (IAU) consensus on miniaturized percutaneous nephrolithotomy

    No full text
    After publication of the article, it was brought to our attention that the author name Otas Durutovic was duplicated in the author list and the second one should be replaced by the author Chu Ann Chai, and the affiliations of Ji-Wen Cheng and Chu Ann Chai are incorrect, the correct author list with correct affiliations is shown below: Guo-Hua Zeng, Wen Zhong, Giorgio Mazzon, Wei Zhu, Sven Lahme, Sanjay Khadgi, Janak Desai, Madhu Agrawal, David Schulsinger, Mantu Gupta, Emanuele Montanari, Juan Manuel Lopez Martinez, Shabir Almousawi, Vincent Emanuel F. Malonzo, Seshadri Sriprasad, Otas Durutovic, Vimoshan Arumuham, Stefania Ferretti, Wissam Kamal, Ke-Wei Xu, Fan Cheng, Xiao-Feng Gao, Ji-Wen Cheng, Bhaskar Somani, Mordechai Duvdevani, Kah Ann Git, Christian Seitz, Norberto Bernardo, Tarek Ahmed Amin Ibrahim, Albert Aquino, Takahiro Yasui, Cristian Fiori, Thomas Knoll, Athanasios Papatsoris, Nariman Gadzhiev, Ulanbek Zhanbyrbekuly, Oriol Angerri, Hugo Lopez Ramos, Iliya Saltirov, Mohamad Moussa, Guido Giusti, Fabio Vicentini, Edgar Beltran Suarez, Margaret Pearle, Glenn M. Preminger, Qing-Hui Wu, Chu Ann Chai, Khurshid Ghani, Marcus Maroccolo, Marianne Brehmer, Palle J. Osther, Marek Zawadzki, Azimdjon Tursunkulov, Monolov Nurbek Kytaibekovich, Abdusamad Abdukakhorovich Abuvohidov, Cesar Antonio Recalde Lara, Zamari Noori, Stefano Paolo Zanetti, Sunil Shrestha, Jean de la Rosette, John Denstedt, Zhang-Qun Ye, Kemal Sarica &amp; Simon Choong. The original publication has been updated.</p

    The role of actor associations in understanding the implementation of lean thinking in healthcare

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    Purpose: The importance of networks in effecting the outcomes of change processes is well-established in the literature. Whilst extant literature focuses predominantly on the structural properties of networks, our purpose is to explore the dynamics of network emergence that give rise to the outcomes of process interventions. We show how Actor Network Theory (ANT) may be used as a lens for interrogating the way in which management interventions play out in the complex organisational setting of a UK National Health Service Trust, providing insights for management of process change initiatives. Design/methodology/approach: This is a rich qualitative study in the Pathology Unit of a UK National Health Service Trust, using ANT as the theoretical lens for tracking the emergence and transformation of networks of individuals over the course of a management intervention to promote “lean thinking” for performance improvements.Findings: ANT is useful for explicitly tracking how organisational players shift their positions and network allegiances over time, and identifying objects and actions that are effective in engaging individuals in networks enabling transition to a lean process. It is important to attend to the dynamics of the process of change and devise appropriate timely interventions enabling actors to shift their own positions towards a desired outcome.Research limitations/implications: We make the case for using of theoretical frameworks developed outside the operations management to develop insights for designing process interventions.Originality/value: By understanding the role of shifting networks managers can use timely interventions during the process implementation to facilitate the transition to lean processes: e.g. using demonstrable senior leadership commitment and visual communication.<br/

    Origins of the Great Inflation

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    The Great Inflation from 1965 to 1984 is the climactic monetary event of the last part of the 20th century. This paper analyzes why it started and why it continued for many years. Like others, it attributes the start of inflation to analytic errors, particularly the widespread acceptance of the simple Keynesian model with its implication that monetary and fiscal policy should be coordinated. In practice, that meant that the Federal Reserve financed a large part of the fiscal deficit. This paper gives a large role to political decisionmaking. Continuation of inflation depended on political choices, analytic errors, and the entrenched belief that inflation would continue.Inflation (Finance) ; Economic history ; Monetary policy

    Biodiversity, abundance, seasonal and diurnal airborne pollen distribution patterns at two different heights in Augsburg, Germany.

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    Airborne pollen are the most important aeroallergens worldwide. Because of climate change, pollen seasonality and abundance have been altering significantly, raising the fundamental question: when and how much is the pollen exposure increasing? To answer this, we applied a multi-resolution study design, from bi-hourly to yearly scale, investigating the diversity, abundance and temporal occurrence of airborne pollen. The whole spectrum of airborne pollen concentrations was registered during 2015–2017, using a 7-day recording Hirst-type volumetric trap. Monitoring took place at ground-level, where we mostly commute and reside, and at the ‘gold-standard’ rooftop-level (12 m above ground level), at resolutions: A) bi-hourly, B) daily. The biodiversity and the relative abundance of all taxa were assessed, and the first pollen season calendars, along with circadian calendars, for Augsburg, Germany, were developed. More than 40 pollen types were identified, of which 13 were the most abundant (&gt;0.5% relative abundance each, accounting for a total of 91.8%). Biodiversity did not present any striking differences between heights, with pollen from Urticaceae, Betula and Poaceae representing consistently more than half of the regional atmospheric biodiversity. At rooftop-level, pollen abundances often appeared to be higher, particularly for Betula, Picea and Quercus. The main pollen season extended from March to October, with the highest peak occurring April–May. At rooftop-level, the pollen seasons of most taxa were observed earlier and the overall seasons were longer. Within the day, higher pollen concentrations were observed either at midday to early afternoon (Urticaceae, Poaceae, Plantago and mostly taxa at ground-level) or night to early morning, frequently with multi-modal diurnal patterns (Betula, Fraxinus and mostly taxa at rooftop-level). Our findings reveal that generalisation of abundance and temporal distribution patterns between ground-level and ‘gold-standard’ rooftop-level pollen measurements should be intensively reconsidered. While the pollen diversity and abundance may be well represented within this height range, the temporal occurrence is not, with pollen vertical variability being more important than originally anticipated. Hence, we need to reassess when and how much the relevant pollen exposure is increasing

    Worst Case Scenario and Stakeholder Group Decision: A 5-6 Meter Sea Level Rise in the Rhone Delta, France

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    Risk policy and public attitudes appear disconnected from research predicting warmer climate partially due to human activity. To step out of this stalled situation, a worst case scenario of a 5-6m sea level rise (SLR) induced by the collapse of the WAIS and occurring during the period 2030-2130 is constructed and applied to the Rhone delta. Physical and socio-economic scenarios developed with data from the Rhone delta context are developed and submitted to stakeholders for a day-long workshop. Group process analysis shows a high level of trust and cooperation mobilized to face the 5-6m SLR issue, despite potentially diverging interests. Two sets of recommendations stem from the scenario workshop. A conservative "wait and see" option is decided when the risk of the WAIS collapse is announced in 2030. After WAIS collapse generates an effective 1m SLR rise by 2050, decisions are taken for total retreat and rendering of the Rhone delta to its hydrological function. The transposition of these results into present times policy decisions could be considered. The methodology developed here could be applied to other risk objects and situations, and serve for policy exercises and crisis prevention.Sea level rise, France, Camargue, scenario, extreme climate, stakeholder workshop

    Near-Sun observations of an F-corona decrease and K-corona fine structure

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    peer reviewedRemote observations of the solar photospheric light scattered by electrons (the K-corona) and dust (the F-corona or zodiacal light) have been made from the ground during eclipses1 and from space at distances as small as 0.3 astronomical units2–5 to the Sun. Previous observations6–8 of dust scattering have not confirmed the existence of the theoretically predicted dust-free zone near the Sun9–11. The transient nature of the corona has been well characterized for large events, but questions still remain (for example, about the initiation of the corona12 and the production of solar energetic particles13) and for small events even its structure is uncertain14. Here we report imaging of the solar corona15 during the first two perihelion passes (0.16–0.25 astronomical units) of the Parker Solar Probe spacecraft13, each lasting ten days. The view from these distances is qualitatively similar to the historical views from ground and space, but there are some notable differences. At short elongations, we observe a decrease in the intensity of the F-coronal intensity, which is suggestive of the long-sought dust free zone9–11. We also resolve the fine-scale plasma structure of very small eruptions, which are frequently ejected from the Sun. These take two forms: the frequently observed magnetic flux ropes12,16 and the predicted, but not yet observed, magnetic islands17,18 arising from the tearing-mode instability in the current sheet. Our observations of the coronal streamer evolution confirm the large-scale topology of the solar corona, but also reveal that, as recently predicted19, streamers are composed of yet smaller substreamers channelling continual density fluctuations at all visible scales. © 2019, The Author(s), under exclusive licence to Springer Nature Limited
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