791 research outputs found
When your eyes see more than you do
SummaryVisual information is used by the brain to construct a conscious experience of the visual world and to guide motor actions [1]. Here we report a study of how eye movements and perception relate to each other. We compared the ability of human observers to perceive image motion with the reliability of their eyes to track the motion of a target [2–4], the goal being to test whether both motor and sensory processes are based on the same set of signals and limited by a shared source of noise [2,4]. We found that the oculomotor system can detect fluctuations in the velocity of a moving target better than the observer. Surprisingly, in some conditions, eye movements reliably respond to the velocity fluctuations of a moving target that are otherwise perceptually invisible to the subjects. The implication is that visual motion signals exist in the brain that can be used to guide motor actions without evoking a perceptual outcome nor being accessible to conscious scrutiny
Heterogeneous nucleation near a metastable vapour-liquid transition: the effect of wetting transitions
Phase transformations such as freezing typically start with heterogeneous
nucleation. Heterogeneous nucleation near a wetting transition, of a
crystalline phase is studied. The wetting transition occurs at or near a
vapour-liquid transition which occurs in a metastable fluid. The fluid is
metastable with respect to crystallisation, and it is the crystallisation of
this fluid phase that we are interested in. At a wetting transition a thick
layer of a liquid phase forms at a surface in contact with the vapour phase.
The crystalline nucleus is then immersed in this liquid layer, which reduces
the free energy barrier to nucleation and so dramatically increases the
nucleation rate. The variation in the rate of heterogeneous nucleation close to
wetting transitions is calculated for systems in which the longest-range forces
are dispersion forces.Comment: 11 pages including 3 figure
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De novo SCN2A splice site mutation in a boy with autism spectrum disorder
BACKGROUND:
SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important role in psychiatric disorders. Recently, de novo SCN2A mutations in autism spectrum disorder (ASD) have been identified. The current study characterizes a de novo splice site mutation in SCN2A that alters mRNA and protein products.
CASE PRESENTATION:
We describe results from clinical and genetic characterizations of a seven-year-old boy with ASD. Psychiatric interview and gold standard autism diagnostic instruments (ADOS and ADI-R) were used to confirm ASD diagnosis, in addition to performing standardized cognitive and adaptive functioning assessments (Leiter-R and Vineland Adaptive Behavior Scale), and sensory reactivity assessments (Sensory Profile and Sensory Processing Scales). Genetic testing by whole exome sequencing revealed four de novo events, including a splice site mutation c.476 + 1G > A in SCN2A, a missense mutation (c.2263G > A) causing a p.V755I change in the TLE1 gene, and two synonymous mutations (c.2943A > G in the BUB1 gene, and c.1254 T > A in C10orf68 gene). The de novo SCN2A splice site mutation produced a stop codon 10 amino acids downstream, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The participant met new DSM-5 criteria for ASD, presenting with social and communication impairment, repetitive behaviors, and sensory reactivity issues. The participant's adaptive and cognitive skills fell in the low range of functioning.
CONCLUSION:
This report indicates that a splice site mutation in SCN2A might be contributing to the risk of ASD. Describing the specific phenotype associated with SCN2A mutations might help to reduce heterogeneity seen in ASD
The relationship between sensory sensitivity and autistic traits in the general population.
Individuals with Autism Spectrum Disorders (ASDs) tend to have sensory processing difficulties (Baranek et al. in J Child Psychol Psychiatry 47:591–601, 2006). These difficulties include over- and under-responsiveness to sensory stimuli, and problems modulating sensory input (Ben-Sasson et al. in J Autism Dev Disorders 39:1–11, 2009). As those with ASD exist at the extreme end of a continuum of autistic traits that is also evident in the general population, we investigated the link between ASD and sensory sensitivity in the general population by administering two questionnaires online to 212 adult participants. Results showed a highly significant positive correlation (r = .775, p < .001) between number of autistic traits and the frequency of sensory processing problems. These data suggest a strong link between sensory processing and autistic traits in the general population, which in turn potentially implicates sensory processing problems in social interaction difficulties
Non-Conscious Influences on Consumer Choice
While consumer choice research has dedicated considerable research attention to aspects of choice that are deliberative and conscious, only limited attention has been paid to aspects of choice that occur outside of conscious awareness. We review relevant research that suggests that consumer choice is a mix of conscious and nonconscious influences, and argue that the degree to which nonconscious influences affect choice is much greater than many choice researchers believe. Across a series of research domains, these influences are found to include stimulus that are not consciously perceived by the consumer, nonconscious downstream effects of a consciously perceived stimuli or thought process, and decision processes that occur entirely outside of awareness
Rapid selection of cyclic peptides that reduce alpha-synuclein toxicity in yeast and animal models
Phage display has demonstrated the utility of cyclic peptides as general protein ligands but cannot access proteins inside eukaryotic cells. Expanding a new chemical genetics tool, we describe the first expressed library of head-to-tail cyclic peptides in yeast (Saccharomyces cerevisiae). We applied the library to selections in a yeast model of alpha-synuclein toxicity that recapitulates much of the cellular pathology of Parkinson's disease. From a pool of 5 million transformants, we isolated two related cyclic peptide constructs that specifically reduced the toxicity of human alpha-synuclein. These expressed cyclic peptide constructs also prevented dopaminergic neuron loss in an established Caenorhabditis elegans Parkinson's model. This work highlights the speed and efficiency of using libraries of expressed cyclic peptides for forward chemical genetics in cellular models of human disease
A Working Taxonomy for Describing the Sensory Differences of Autism
Background: Individuals on the autism spectrum have been long described to process sensory information differently than neurotypical individuals. While much effort has been leveraged towards characterizing and investigating the neurobiology underlying the sensory differences of autism, there has been a notable lack of consistency in the terms being used to describe the nature of those differences.
Main body: We argue that inconsistent and interchangeable terminology-use when describing the sensory differences of autism has become problematic beyond mere pedantry and inconvenience. We begin by highlighting popular terms that are currently being used to describe the sensory differences of autism (e.g. sensitivity , reactivity and responsivity ) and discuss why poor nomenclature may hamper efforts towards understanding the aetiology of sensory differences in autism. We then provide a solution to poor terminology-use by proposing a hierarchical taxonomy for describing and referring to various sensory features.
Conclusion: Inconsistent terminology-use when describing the sensory features of autism has stifled discussion and scientific understanding of the sensory differences of autism. The hierarchical taxonomy proposed was developed to help resolve lack of clarity when discussing the sensory differences of autism and to place future research targets at appropriate levels of analysis
Quantitative assessment of the spatial heterogeneity of tumor-infiltrating lymphocytes in breast cancer
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