160 research outputs found

    CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia

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    This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia and bilateral vestibulopathy at the age of 60 years. The family history was unremarkable. Magnetic resonance imaging (MRI) showed atrophy of the cerebellum predominantly in the vermis and atrophy of the spinal cord. The patient was given the syndromic diagnosis of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In 2019 the underlying genetic cause of CANVAS was discovered to be an intronic repeat expansion in the RFC1 gene with autosomal recessive inheritance. The patient exhibited the full clinical picture of CANVAS and was tested positive for this repeat expansion on both alleles. The CANVAS is a relatively frequent cause of late-onset hereditary ataxia (estimated prevalence 5‑13/100,000). In contrast to the present patient, the full clinical picture is not always present. Therefore, testing for the RFC1 gene expansion is recommended in the work-up of patients with otherwise unexplained late-onset sporadic ataxia. As intronic repeat expansions cannot be identified by next generation sequencing methods, specific testing is necessary

    ShadowTutor: Distributed Partial Distillation for Mobile Video DNN Inference

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    Following the recent success of deep neural networks (DNN) on video computer vision tasks, performing DNN inferences on videos that originate from mobile devices has gained practical significance. As such, previous approaches developed methods to offload DNN inference computations for images to cloud servers to manage the resource constraints of mobile devices. However, when it comes to video data, communicating information of every frame consumes excessive network bandwidth and renders the entire system susceptible to adverse network conditions such as congestion. Thus, in this work, we seek to exploit the temporal coherence between nearby frames of a video stream to mitigate network pressure. That is, we propose ShadowTutor, a distributed video DNN inference framework that reduces the number of network transmissions through intermittent knowledge distillation to a student model. Moreover, we update only a subset of the student's parameters, which we call partial distillation, to reduce the data size of each network transmission. Specifically, the server runs a large and general teacher model, and the mobile device only runs an extremely small but specialized student model. On sparsely selected key frames, the server partially trains the student model by targeting the teacher's response and sends the updated part to the mobile device. We investigate the effectiveness of ShadowTutor with HD video semantic segmentation. Evaluations show that network data transfer is reduced by 95% on average. Moreover, the throughput of the system is improved by over three times and shows robustness to changes in network bandwidth.Comment: Accepted at ICPP 202

    Paramedics' perceptions and experiences of pelvic injuries in prehospital situations

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    In recent years there has been an increase in pelvic injuries due to an increase in road traffic collisions (RTCs) (Chesters 2017). Two thirds of pelvic injuries are due to RTCs and the remainder are made up of pedestrian collisions, motorcycle accidents and falls from heights. Patients with fatal pelvic injuries more than likely die of exsanguinations and/or associated severe injuries (ibid.). Lee & Porter (2007) undertook a literature review to analyse the current practice of assessing and managing pelvic injuries in pre-hospital situations. They write that the mortality rates of patients with pelvic fractures are estimated between 7% and 19%, upon their arrival at hospital. The mortality rates of patients with ‘open book’ fractures can be as high as 50%. An ‘open book’ fracture can be defined as any serious fracture that causes the pelvic ring to open like a book. This is commonly seen in anterior injuries to the pelvis widening the pubic symphysis (Gerecht, Larrimore & Steuerwald 2014). Lee and Porter (2007) argue that paramedics can help reduce the retroperitoneal space that a patient can haemorrhage into, and therefore lower the mortality rates for patients with ‘open-book’ pelvic fractures. Given the high mortality rates associated with pelvic injuries and the role paramedics can play in reducing these outcomes, the aim of this narrative review is to synthesize existing literature about pelvic injury recognition, assessment and management in pre-hospital situations. The authors will also conclude upon any new insights or recommendations found following the review

    Degree of adaptive male mate choice is positively correlated with female quality variance

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    When the cost of reproduction for males and variance in female quality are high, males are predicted to show adaptive mate choice. Using Drosophila melanogaster, we test this prediction and show that sperm limited males preferentially mated with young and/or well fed females. The preferred females had higher reproductive output – direct evidence of adaptive precopulatory male mate choice. Our most striking finding is the strong positive correlation between the degree of mating bias showed by the males and the variance in the fitness of the females. We discuss the possible mechanism for such adaptive male mate choice and propose that such choice has important consequences with respect to the existing understanding of the mating system and the evolution of aging

    Cost of Mating and Insemination Capacity of a Genetically Modified Mosquito Aedes aegypti OX513A Compared to Its Wild Type Counterpart

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    The idea of implementing genetics-based insect control strategies modelled on the traditional SIT is becoming increasingly popular. In this paper we compare a genetically modified line of Aedes aegypti carrying a tetracycline repressible, lethal positive feedback system (OX513A) with its wild type counterpart with respect to their insemination capacities and the cost of courtship and mating. Genetically modified males inseminated just over half as many females as the wild type males during their lifetime. Providing days of rest from mating had no significant effect on the total number of females inseminated by males of either line, but it did increase their longevity. Producing sperm had a low cost in terms of energy investment; the cost of transferring this sperm to a receptive female was much higher. Continued mating attempts with refractory females suggest that males could not identify refractory females before investing substantial energy in courtship. Although over a lifetime OX513A males inseminated fewer females, the number of females inseminated over the first three days, was similar between males of the two lines, suggesting that the identified cost of RIDL may have little impact on the outcome of SIT-based control programmes with frequent releases of the genetically modified males

    Measurement of global polarization of {\Lambda} hyperons in few-GeV heavy-ion collisions

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    The global polarization of {\Lambda} hyperons along the total orbital angular momentum of a relativistic heavy-ion collision is presented based on the high statistics data samples collected in Au+Au collisions at \sqrt{s_{NN}} = 2.4 GeV and Ag+Ag at 2.55 GeV with the High-Acceptance Di-Electron Spectrometer (HADES) at GSI, Darmstadt. This is the first measurement below the strangeness production threshold in nucleon-nucleon collisions. Results are reported as a function of the collision centrality as well as a function of the hyperon transverse momentum (p_T) and rapidity (y_{CM}) for the range of centrality 0--40%. We observe a strong centrality dependence of the polarization with an increasing signal towards peripheral collisions. For mid-central (20--40%) collisions the polarization magnitudes are (%) = 6.0 \pm 1.3 (stat.) \pm 2.0 (syst.) for Au+Au and (%) = 4.6 \pm 0.4 (stat.) \pm 0.5 (syst.) for Ag+Ag, which are the largest values observed so far. This observation thus provides a continuation of the increasing trend previously observed by STAR and contrasts expectations from recent theoretical calculations predicting a maximum in the region of collision energies about 3 GeV. The observed polarization is of a similar magnitude as predicted by 3D fluid dynamics and the UrQMD plus thermal vorticity model and significantly above results from the AMPT model.Comment: 8 pages, 4 figure
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