26 research outputs found

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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    To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

    “The end of privacy as we know it”: Reconsidering public space in the age of Google Glass

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    The introduction of Google Glass in 2013 attracted much public attention and initiated a race for the commercial development of mixed reality goggles. Google Glass (hereafter Glass) is a head-mounted display in the shape of eyeglasses with camera that can overlay and augment physical world with virtual information. The device is always present in the user’s field of sight and demands close attention during each interaction. Glass enables online search, personalized suggestions and navigation in real-time. Also, Glass can take pictures and record the surroundings, share and store them online, while not providing clear signals to the outside. While Glass does not allow a continuous recording, “those who wish to can record, rewind and rewatch more of what they see more easily—and where everyone else can end up recorded as part of the process” (The Economist, 2013). In view of its surreptitious recording capabilities, Glass generated various concerns, primarily related to privacy. Soon after its introduction, “Glass-free zones” emerged on some business premises, where owners considered the video camera embedded in Glass to be a violation of privacy of their clients. Other creative appropriations of Glass included sabotaging the functioning of device by blocking its Wi-Fi connectivity. Even though Google emphasized the privacy-conscious character of Glass as a device providing control over user’s information, privacy appeared as an unattained cornerstone for the societal acceptability of Glass. Google withdrew Glass for redesign in 2015, only two years after its introduction. However, this does not mark the end of privacy concerns related to mixed reality devices. An updated version of Glass appeared in July 2017, currently available only for enterprise use (Levy 2017). Moreover, camera-equipped devices, similar to Glass, now enter the market of mixed reality glasses (e.g. HoloLens by Microsoft (2015), Spectacles by Snap (2017) and EyeTrack Insight by Olympus (2017)). To this end, the debate around Google Glass and privacy remains relevant. In anticipation of the further integration of mixed reality devices into the daily lives of people, it is important to understand the privacy concerns they generate, their foundation and implications. Glass, just as other mixed reality goggles, can be used in different social scenarios, ranging from face-to-face intimate encounters to the use in public space. Conceived as a locus for socialization, interaction, and identity representation, public space embeds both individual, interpersonal and larger group concerns. Therefore, in this chapter, we seek to examine the impact of mixed reality glasses on the nature of public space, and suggest to turn to Glass as a device with history in this regard. Philosophically, we rely on the theory of technological mediation (Verbeek 2005, 2011) and the thought of Hannah Arendt (1990, 2013) to understand Google Glass better. The theory of technological mediation understands technologies to be in dynamic, mediating relations with the people and the world (Ihde 1990, Verbeek 2005). As such, people and technologies are not independent of each other, because, on one hand, people design technologies with certain intentions; but on the other hand, these same technologies help to shape the perceptions and interpretation of the world and consequently influence the way people act. The ethical consequence of this is that human values are also not independent of technologies— technologies mediate morality (Verbeek 2011). In the current study, we want to understand how privacy as a value takes shape in relation to Google Glass in public space

    Improved method for fibre content and quality analysis and their application to flax genetic diversity investigations

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    Evaluation for fibre content and quality in a breeding selection program is time consuming and costly. Therefore, this study aims to develop a method for fast and reproducible fibre content analysis on small flax straw samples. A protocol has been developed and verified with fibre screening methods used commonly in flax breeding. A large number of different accessions of mostly fibre flax and some linseed, present in the core collection of CGN, were grown under comparable conditions and were analysed for their bast fibre contents by warm water retting and green decortication methods. From the core collection, a selection was made of a number of high, medium and low fibre yielding flax accessions with extremes in stem length, branching or fibre bundle appearance. These were analysed with the novel fibre extraction procedure utilising short autoclave treatment in 0.05 M EDTA as calcium complexing agent. Since 1999, cultivars selected for the core were grown around Wageningen on sandy soils. The fibre content was determined by different methods and a correlation was found between the values obtained by warm water retting and the autoclave procedure. However, the data obtained by green decortication show up to 20 nd on average 15 igher fibre content values. This higher value roughly corresponds to the weight of the cuticula and remaining xylem tissue that is more efficiently removed by retting and autoclave treatments. The reproducibility of this fibre content determination method for small straw sample analysis (25 g) is a promising tool for accelerated breeding protocol

    Improved method for fibre content and quality analysis and their application to flax genetic diversity investigations

    No full text
    Evaluation for fibre content and quality in a breeding selection program is time consuming and costly. Therefore, this study aims to develop a method for fast and reproducible fibre content analysis on small flax straw samples. A protocol has been developed and verified with fibre screening methods used commonly in flax breeding. A large number of different accessions of mostly fibre flax and some linseed, present in the core collection of CGN, were grown under comparable conditions and were analysed for their bast fibre contents by warm water retting and green decortication methods. From the core collection, a selection was made of a number of high, medium and low fibre yielding flax accessions with extremes in stem length, branching or fibre bundle appearance. These were analysed with the novel fibre extraction procedure utilising short autoclave treatment in 0.05 M EDTA as calcium complexing agent. Since 1999, cultivars selected for the core were grown around Wageningen on sandy soils. The fibre content was determined by different methods and a correlation was found between the values obtained by warm water retting and the autoclave procedure. However, the data obtained by green decortication show up to 20 nd on average 15 igher fibre content values. This higher value roughly corresponds to the weight of the cuticula and remaining xylem tissue that is more efficiently removed by retting and autoclave treatments. The reproducibility of this fibre content determination method for small straw sample analysis (25 g) is a promising tool for accelerated breeding protocol

    Monitoring techniques using Autonomous Underwater Vehicles for potential seepage of CO2 from sub-seafloor storage sites

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    Although a number of Carbon Capture and Storage sub-seafloor storage sites are now either in operation or planned for CO2, little is known about the effect of potential seepage on marine ecosystems. Here we describe a comprehensive field campaign to the North Sea (RRS James Cook Cruise 77) that used Autosub 6000 to test methods for detection of seepage, including formation fluids, natural gas and CO2, as it passes through the sedimentary overburden and into the water column, and develop monitoring strategies suitable for all offshore carbon capture and storage projects. In this paper we describe the Hugin Fracture, a 2 km long discontinuity imaged on the seabed, and associated fluid flow activity, revealed by geophysical observations including high reflectivity acoustic anomalies within the overburden. Further results in favour of active fluid flow along this fault will be presented, using a combination of multidisciplinary datasets comprising video photography, Eh sensor and sediment samples. <br/

    Kwetsbaarheid, dagelijkse beperkingen en ziektelast: samenhang met kwaliteit van leven en zorggebruik bij ouderen

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    To assess the independent and combined impact of frailty, multi-morbidity, and activities of daily living (ADL) limitations on self-reported quality of life and healthcare costs in elderly people. Cross-sectional, descriptive study. Data came from The Older Persons and Informal Caregivers Minimum DataSet (TOPICS-MDS), a pooled dataset with information from 41 projects across the Netherlands from the Dutch national care for the Elderly programme. Frailty, multi-morbidity and ADL limitations, and the interactions between these domains, were used as predictors in regression analyses with quality of life and healthcare costs as outcome measures. Analyses were stratified by living situation (independent or care home). Directionality and magnitude of associations were assessed using linear mixed models. A total of 11,093 elderly people were interviewed. A substantial proportion of elderly people living independently reported frailty, multi-morbidity, and/or ADL limitations (56.4%, 88.3% and 41.4%, respectively), as did elderly people living in a care home (88.7%, 89.2% and 77,3%, respectively). One-third of elderly people living at home (31.9%) reported all three conditions compared with two-thirds of elderly people living in a care home (68.3%). In the multivariable analysis, frailty had a strong impact on outcomes independently of multi-morbidity and ADL limitations. Elderly people experiencing problems across all three domains reported the poorest quality-of-life scores and the highest healthcare costs, irrespective of their living situation. Frailty, multi-morbidity and ADL limitations are complementary measurements, which together provide a more holistic understanding of health status in elderly people. A multi-dimensional approach is important in mapping the complex relationships between these measurements on the one hand and the quality of life and healthcare costs on the othe
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