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

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

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

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

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

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

Defensin-Like ZmES4 Mediates Pollen Tube Burst in Maize via Opening of the Potassium Channel KZM1

Species-preferential osmotic pollen tube burst and sperm discharge in maize involve induced opening of the pollen tube-expressed potassium channel KZM1 by the egg apparatus-derived defensin-like protein ZmES4

Recent developments in genetics and medically assisted reproduction : from research to clinical applications

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.Peer reviewe

Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome

Tubular aggregates are accumulations of densely packed tubules in muscle fibers, occurring in distinct hereditary and acquired disorders. We present a patient with tubular aggregates and autoimmune Lambert-Eaton myasthenic syndrome. Initially, he showed mild proximal weakness, borderline decrement on 3 Hz stimulation, and slightly elevated creatine kinase. Muscle biopsy revealed tubular aggregates in type II fibers. Due to a good response to pyridostigmine, a limb-girdle myasthenia with tubular aggregates was suspected, but genetic analyses of GFPT1, DPGAT1, and ALG2 were normal. Two years later, the patient presented with progressive weakness and autonomic dysfunction. 17% decrement on 3 Hz stimulation and 100% increment after brief exercise were revealed. Autoantibodies to voltage-gated calcium-channels confirmed the diagnosis of Lambert-Eaton myasthenic syndrome. Steroids, azathioprine, and 3,4-diaminopyridine significantly improved symptoms. No tumor was found during follow-up. This is the first report about tubular aggregates associated with an acquired myasthenic syndrome. Our findings are important because of the therapeutic implications.status: publishe