40 research outputs found

    Visual adaptation enhances action sound discrimination

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    Prolonged exposure, or adaptation, to a stimulus in one modality can bias, but also enhance, perception of a subsequent stimulus presented within the same modality. However, recent research has also found that adaptation in one modality can bias perception in another modality. Here we show a novel crossmodal adaptation effect, where adaptation to a visual stimulus enhances subsequent auditory perception. We found that when compared to no adaptation, prior adaptation to visual, auditory or audiovisual hand actions enhanced discrimination between two subsequently presented hand action sounds. Discrimination was most enhanced when the visual action ‘matched’ the auditory action. In addition, prior adaptation to a visual, auditory or audiovisual action caused subsequent ambiguous action sounds to be perceived as less like the adaptor. In contrast, these crossmodal action aftereffects were not generated by adaptation to the names of actions. Enhanced crossmodal discrimination and crossmodal perceptual aftereffects may result from separate mechanisms operating in audiovisual action sensitive neurons within perceptual systems. Adaptation induced crossmodal enhancements cannot be explained by post-perceptual responses or decisions. More generally, these results together indicate that adaptation is a ubiquitous mechanism for optimizing perceptual processing of multisensory stimuli

    100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

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    BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis. RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives. CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)

    Applying a Quantum Annealer to the Traffic Assignment Problem

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    This is the author accepted manuscript.The Traffic Assignment Problem (TAP) is a complex transportation optimisation problem typically solved using meta-heuristics on classical computers. Quantum computers, despite being a nascent technology, have the potential to significantly speed up computa tion by exploiting quantum parallelism. A quantum annealer (QA) is a quantum computer tailored to solve combinatorial optimisa tion problems formulated as a Quadratic Unconstrained Binary Optimisation (QUBO). Formulating complex optimisation problems as QUBO is an open challenge. This paper derives a new QUBO formulation for TAP by employing a streamlined methodology of general applicability. It also attempts a direct comparison at solving TAP encompassing a QA (D-WAVE), a hybrid quantum-classical algorithm, and classical methods including Simulated Annealing and Genetic Algorithms. This comparison is difficult and seldom done due to the inherent differences between quantum and classic hardware. As expected from the current quantum technology, our results show that a pure QA suffers from significant noise in qubits and requires significant additional computational time, although we show that the time required solely by the QPU does not increase with problem size. We also show that the hybrid QA mitigates these noise issues and is on a par with traditional methods.Innovate UKCity Scienc

    A pictorial overview of pubovisceral muscle avulsions on pelvic floor magnetic resonance imaging

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    Contains fulltext : 118392.pdf (publisher's version ) (Open Access)OBJECTIVES: Despite extensive research aimed at clarifying (failing) pelvic organ support, the complete aetiology of pelvic organ prolapse (POP) is still not fully understood. During vaginal delivery, the pelvic floor can be irreversibly traumatised, resulting in pubovisceral muscle avulsions. The aetiology of these avulsions is discussed in this pictorial overview. Normal female pelvic floor anatomy is described and variations are exemplified using magnetic resonance (MR) images. The clinical relevance of detecting pubovisceral muscle avulsions is specified. METHODS: T2-weighted MR imaging has multiplanar capabilities with high diagnostic accuracy allowing for detailed visualisation of the pelvic floor. Together with the use of a three-dimensional (3D) post-processing program, the presence and severity of pubovisceral muscle avulsions can be quantified. RESULTS: Pelvic floor MR imaging is a non-invasive method that enables adequate identification of pubovisceral muscle avulsions which are known risk factors for the development of POP. They can be scored with good to excellent inter- and intra-observer reliability. CONCLUSIONS: Radiologists and urogynaecology subspecialists should be familiar with MR imaging findings of pubovisceral muscle avulsions as this birth-related trauma is observed in over 36 \% of vaginally parous women. TEACHING POINTS: • Pelvic organ prolapse (POP) is a growing problem for both patients and for our healthcare system • Pubovisceral muscle avulsions are known risk factors for pelvic organ prolapse (POP) • T2-weighted MR imaging visualises pubovisceral muscle avulsions adequately • Pubovisceral muscle avulsions are scored with good to excellent inter- and intra-observer reliability
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