77 research outputs found
Neuroscience and education: prime time to build the bridge
As neuroscience gains social traction and entices media attention, the notion that education has much to benefit from brain
research becomes increasingly popular. However, it has been argued that the fundamental bridge toward education is cognitive
psychology, not neuroscience. We discuss four specific cases in which neuroscience synergizes with other disciplines to serve
education, ranging from very general physiological aspects of human learning such as nutrition, exercise and sleep, to brain
architectures that shape the way we acquire language and reading, and neuroscience tools that increasingly allow the early
detection of cognitive deficits, especially in preverbal infants. Neuroscience methods, tools and theoretical frameworks have
broadened our understanding of the mind in a way that is highly relevant to educational practice. Although the bridge’s cement is
still fresh, we argue why it is prime time to march over it
Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease
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109282.pdf (publisher's version ) (Open Access)BACKGROUND: A large proportion of patients with autosomal dominant polycystic kidney disease (ADPKD) suffers from polycystic liver disease. Symptoms arise when liver volume increases. The somatostatin analogue lanreotide has proven to reduce liver volume in patients with polycystic liver disease. However, this study also included patients with isolated polycystic liver disease (PCLD). The RESOLVE trial aims to assess the efficacy of lanreotide treatment in ADPKD patients with symptomatic polycystic livers. In this study we present the design of the RESOLVE trial. METHODS/DESIGN: This open-label clinical trial evaluates the effect of 6 months of lanreotide in ADPKD patients with symptomatic polycystic livers. Primary outcome is change in liver volume determined by computerised tomography-volumetry. Secondary outcomes are changes in total kidney volume, kidney intermediate volume and renal function. Furthermore, urinary (NGAL, alpha1-microglobulin, KIM-1, H-FABP, MCP-1) and serum (fibroblast growth factor 23) biomarkers associated with ADPKD disease severity are assessed to investigate whether these biomarkers predict treatment responses to lanreotide. Moreover, safety and tolerability of the drug in ADPKD patients will be assessed. DISCUSSION: We anticipate that lanreotide is an effective therapeutic option for ADPKD patients with symptomatic polycystic livers and that this trial aids in the identification of patient related factors that predict treatment response. TRIAL REGISTRATION NUMBER: Clinical trials.gov NCT01354405
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family
Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions at multiple sites, including the brain, spinal cord, kidneys, adrenals, pancreas, epididymis and eyes. The clinical phenotype results from molecular abnormalities of the VHL tumor suppressor gene, mapped to human chromosome 3p25-26. The VHL gene encodes two functionally active VHL proteins due to the presence of two translational initiation sites separated by 53 codons. The majority of disease-causing mutations have been detected downstream of the second translational initiation site, but there are conflicting data as to whether few mutations located in the first 53 codons, such as the Pro25Leu could have a pathogenic role. In this paper we report a large Hungarian VHL type 2 family consisting of 32 members in whom a disease-causing AGT80AAT (Ser80Ile) c.239G>A, p.Ser80Ile mutation, but not the concurrent CCT25CTT (Pro25Leu) c.74C>T, p.Pro25Leu variant co-segregated with the disease. To our knowledge, the Ser80Ile mutation has not been previously described in VHL type 2 patients with high risk of pheochromocytoma and renal cell cancer. Therefore, this finding represents a novel genotype-phenotype association and VHL kindreds with Ser80Ile mutation will require careful surveillance for pheochromocytoma. We concluded that the Pro25Leu variant is a rare, neutral variant, but the presence such a rare gene variant may make genetic counseling difficult
Universal scaling in the branching of the Tree of Life
Understanding the patterns and processes of diversification of life in the
planet is a key challenge of science. The Tree of Life represents such
diversification processes through the evolutionary relationships among the
different taxa, and can be extended down to intra-specific relationships. Here
we examine the topological properties of a large set of interspecific and
intraspecific phylogenies and show that the branching patterns follow
allometric rules conserved across the different levels in the Tree of Life, all
significantly departing from those expected from the standard null models. The
finding of non-random universal patterns of phylogenetic differentiation
suggests that similar evolutionary forces drive diversification across the
broad range of scales, from macro-evolutionary to micro-evolutionary processes,
shaping the diversity of life on the planet.Comment: 6 pages + 19 of Supporting Informatio
Alterations in cognitive performance during passive hyperthermia are task dependent
The objectives of this study were to (1) assess the effect of passive heating upon attention and memory task performance, and (2) evaluate the effectiveness of the application of cold packs to the head on preserving these functions. Using a counterbalance design 16 subjects underwent three trials: a control (CON, 20°C, 40% rH), hot (HOT, 50°C, 50% rH) and hot with the head kept cool (HHC). In each condition, three attention tests and two memory tests were performed. Mean core, forehead and tympanic temperatures were all significantly higher (p< 0.05) during HOT (38.6° ±0.1°, 39.6° ±0.2° and 38.8°±0.1°C, respectively) and HHC (38°±0.2, 37.7°±0.3° and 37.7°C, respectively) than in CON (37.1°±0.6°, 33.3° ±0.2° and 35.9°±0.3°C, respectively). Results indicate that there was impairment in working memory with heat exposure (p < 0.05) without alteration in attentional processes. The regular application of cold packs only prevented the detrimental effect of hyperthermia on short-term memory. Our results show that impairments in cognitive function with passive hyperthermia and the beneficial effect of head cooling are task dependent and suggests that exposure to a hot environment is a competing variable to the cognitive processes
Quantification of codon selection for comparative bacterial genomics
<p>Abstract</p> <p>Background</p> <p>Statistics measuring codon selection seek to compare genes by their sensitivity to selection for translational efficiency, but existing statistics lack a model for testing the significance of differences between genes. Here, we introduce a new statistic for measuring codon selection, the Adaptive Codon Enrichment (ACE).</p> <p>Results</p> <p>This statistic represents codon usage bias in terms of a probabilistic distribution, quantifying the extent that preferred codons are over-represented in the gene of interest relative to the mean and variance that would result from stochastic sampling of codons. Expected codon frequencies are derived from the observed codon usage frequencies of a broad set of genes, such that they are likely to reflect nonselective, genome wide influences on codon usage (<it>e.g</it>. mutational biases). The relative adaptiveness of synonymous codons is deduced from the frequency of codon usage in a pre-selected set of genes relative to the expected frequency. The ACE can predict both transcript abundance during rapid growth and the rate of synonymous substitutions, with accuracy comparable to or greater than existing metrics. We further examine how the composition of reference gene sets affects the accuracy of the statistic, and suggest methods for selecting appropriate reference sets for any genome, including bacteriophages. Finally, we demonstrate that the ACE may naturally be extended to quantify the genome-wide influence of codon selection in a manner that is sensitive to a large fraction of codons in the genome. This reveals substantial variation among genomes, correlated with the tRNA gene number, even among groups of bacteria where previously proposed whole-genome measures show little variation.</p> <p>Conclusions</p> <p>The statistical framework of the ACE allows rigorous comparison of the level of codon selection acting on genes, both within a genome and between genomes.</p
The Nature Index: A General Framework for Synthesizing Knowledge on the State of Biodiversity
The magnitude and urgency of the biodiversity crisis is widely recognized within
scientific and political organizations. However, a lack of integrated measures
for biodiversity has greatly constrained the national and international response
to the biodiversity crisis. Thus, integrated biodiversity indexes will greatly
facilitate information transfer from science toward other areas of human
society. The Nature Index framework samples scientific information on
biodiversity from a variety of sources, synthesizes this information, and then
transmits it in a simplified form to environmental managers, policymakers, and
the public. The Nature Index optimizes information use by incorporating expert
judgment, monitoring-based estimates, and model-based estimates. The index
relies on a network of scientific experts, each of whom is responsible for one
or more biodiversity indicators. The resulting set of indicators is supposed to
represent the best available knowledge on the state of biodiversity and
ecosystems in any given area. The value of each indicator is scaled relative to
a reference state, i.e., a predicted value assessed by each expert for a
hypothetical undisturbed or sustainably managed ecosystem. Scaled indicator
values can be aggregated or disaggregated over different axes representing
spatiotemporal dimensions or thematic groups. A range of scaling models can be
applied to allow for different ways of interpreting the reference states, e.g.,
optimal situations or minimum sustainable levels. Statistical testing for
differences in space or time can be implemented using Monte-Carlo simulations.
This study presents the Nature Index framework and details its implementation in
Norway. The results suggest that the framework is a functional, efficient, and
pragmatic approach for gathering and synthesizing scientific knowledge on the
state of biodiversity in any marine or terrestrial ecosystem and has general
applicability worldwide
Developmental delay in early childhood is associated with visual-constructive skills at school age in a Brazilian cohort
Abstract We investigated differences in IQ and visual-constructive skills in school-age children evaluated as developmentally delayed or typically developed in early childhood. Sixty-four participants from a Brazilian cohort were evaluated in IQ (Wechsler Abbreviated Scale of Intelligence) and tasks of visual-spatial memory and visual-constructive skills through the Benton Visual Retention Test (BVRT) at school age. Neuropsychomotor development at 4 years of age was measured by Denver II. Developmentally delayed children showed lower IQs, lower scores, and more errors in copy and memory BVRT tasks when compared to typically developed children. Delay in neuropsychomotor development in early childhood may affect the subsequent cognitive development of children
The interactive effects of excess reactive nitrogen and climate change on aquatic ecosystems and water resources of the United States
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