1,949 research outputs found
The Construction and Validation of an Arithmetical Computation Test
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/67909/2/10.1177_001316445301300206.pd
CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland
Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome characterized by a high risk of diffuse stomach cancer and lobular breast cancer. HDGC is caused by germline mutations in the CDH1 gene encoding the E-cadherin which is a member of the transmembrane glycoprotein family responsible for calcium-dependent, cell-to-cell adhesion and plays a fundamental role in the maintenance of cell differentiation and the normal architecture of epithelial tissues. Mutations in the CDH1 gene are detected in 30–46% of families that fulfil strong clinical criteria for HDGC and in about 11% of families fulfilling the modified criteria. In the present study, we investigated germline mutations in the CDH1 gene in Polish patients with HDGC. The entire coding sequence of CDH1 gene was analyzed by sequencing in 86 Polish cancer patients from families fulfilling the modified criteria of HDGC. We found several silent mutations including one common variant (c.2076T>C) present in 56 patients, and three rare variants (c.2253C>T, c.1896C>T, c.2634C>T) detected in 2 patients. In addition, we found four rare sequence variants of unknown significance localized in introns. We did not detect any deleterious mutations of the CDH1 gene. CDH1 gene mutations are not present in Polish families with HDGC defined by the modified clinical criteria. Further studies of families with HDGC matching the restrictive criteria for HDGC are needed
An evaluation of the stimulants and impediments to innovation within PFI/PPP projects
This paper identifies the theoretical stimulants and impediments associated with the implementation of PFI/PPP (Private Finance Initiative/Public Private Partnership) projects. A current defect of this procurement approach is the unintentional constraint upon the innovations incorporated into the development of PFI projects. A critical evaluation of the published literature has been utilized to synthesize a theoretical model. The paper proposes a theoretical model for the identification of potential innovation stimulants and impediments within this type of procurement. This theoretical model is then utilised to evaluate four previously completed PFI projects. These project case-studies have been examined in detail. The evaluation demonstrates how ineffective current procedures are. The application of this model before project letting could eliminate unintentional constraints and stimulate improved innovation within the process. The implementation of the model could improve the successful delivery of innovation within the entire PFI/PPP procurement process
Dynamic facial expressions of emotion transmit an evolving hierarchy of signals over time
Designed by biological and social evolutionary pressures, facial expressions of emotion comprise specific facial movements to support a near-optimal system of signaling and decoding. Although highly dynamical, little is known about the form and function of facial expression temporal dynamics. Do facial expressions transmit diagnostic signals simultaneously to optimize categorization of the six classic emotions, or sequentially to support a more complex communication system of successive categorizations over time? Our data support the latter. Using a combination of perceptual expectation modeling, information theory, and Bayesian classifiers, we show that dynamic facial expressions of emotion transmit an evolving hierarchy of “biologically basic to socially specific” information over time. Early in the signaling dynamics, facial expressions systematically transmit few, biologically rooted face signals supporting the categorization of fewer elementary categories (e.g., approach/avoidance). Later transmissions comprise more complex signals that support categorization of a larger number of socially specific categories (i.e., the six classic emotions). Here, we show that dynamic facial expressions of emotion provide a sophisticated signaling system, questioning the widely accepted notion that emotion communication is comprised of six basic (i.e., psychologically irreducible) categories, and instead suggesting four
Aproximacions demogràfiques per avaluar l’estat de conservació de la baldriga cendrosa Calonectris diomedea i la baldriga balear Puffinus mauretanicus: Demographic approaches for assessing the conservation status of Scopoli’s Shearwater Calonectris diomedea and the Balearic Shearwater Puffinus mauretanicus
In the north-western Mediterranean there are two breeding species of procellariforms from the Procellariidae family: Scopoli’s shearwater Calonectris diomedea and the Balearic shearwater Puffinus mauretanicus. Long-term monitoring carried out in a number of breeding colonies provides enough data to be able to assess the conservation status of both species using demographic approaches that estimate parameters such as survival, recruitment and fertility. This type of approach is recommended because it provides a reliable conservation diagnosis and knowledge of the processes that determine variations in population dynamics. Both species were found to have critically low adult survival rates, unexpected in such long-lived species, which makes these populations unviable under current conditions. This agrees with previous available information on incidental bycatch on fishing gears, and confirms that this threat, together with predation by terrestrial carnivores are of critical concern for the conservation of the populations. The fact that some of the breeding colonies did not show a declining trend indicates that several compensatory mechanisms, such as an immigration rescue effect, may be acting at local level. Nevertheless, all the evidence gathered to date suggests that these compensatory mechanisms are not permanent and that if no action is taken these populations could become extinct. In the case of Scopolis’ shearwater, the global population is much more abundant, so there may be time for mitigation actions to be undertaken. Given the size of the breeding population of Balearic shearwaters, we recommend urgent measures be carried out to reduce adult mortality in this endemic species to prevent its extinction
Effects of university affiliation and “school spirit” on color preferences: Berkeley versus Stanford
The ecological valence theory (EVT) posits that preference for a color is determined by people’s average affective response to everything associated with it (Palmer & Schloss, Proceedings of the National Academy of Sciences, 107, 8877–8882, 2010). The EVT thus implies the existence of sociocultural effects: Color preference should increase with positive feelings (or decrease with negative feelings) toward an institution strongly associated with a color. We tested this prediction by measuring undergraduates’ color preferences at two rival universities, Berkeley and Stanford, to determine whether students liked their university’s colors better than their rivals did. Students not only preferred their own colors more than their rivals did, but the degree of their preference increased with self-rated positive affect (“school spirit”) for their university. These results support the EVT’s claim that color preference is caused by learned affective responses to associated objects and institutions, because it is unlikely that students choose their university or develop their degree of school spirit on the basis of preexisting color preferences
Culture, law, ethics, and social implications: Is society ready for advanced genomic medicine?
Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature
<p>Abstract</p> <p>Background</p> <p>The frequency of E-cadherin germline mutations in countries with different incidence rates for gastric carcinoma has not been well established. The goal of this study was to assess the worldwide frequency of <it>CDH1 </it>germline mutations in gastric cancers coming from low- and high-risk areas.</p> <p>Methods</p> <p>English articles using MEDLINE access (from 1998 to 2011). Search terms included <it>CDH1</it>, E-cadherin, germline mutation, gastric cancer, hereditary, familial and diffuse histotype.</p> <p>The study included all E-cadherin germline mutations identified in gastric cancer patients; somatic mutations and germline mutations reported in other tumors were excluded.</p> <p>The method of this study was scheduled in accordance with the "PRISMA statement for reporting systematic reviews and meta-analyses". Countries were classified as low- or middle/high risk-areas for gastric carcinoma incidence. Statistical analysis was performed to correlate the <it>CDH1 </it>mutation frequency with gastric cancer incidence areas.</p> <p>Results</p> <p>A total of 122 E-cadherin germline mutations have been identified; the majority (87.5%) occurred in gastric cancers coming from low-risk areas. In high-risk areas, we identified 16 mutations in which missense mutations were predominant. (68.8%). We verified a significant association between the mutation frequency and the gastric cancer risk area (<it>p </it>< 0.001: overall identified mutations in low- vs. middle/high-risk areas).</p> <p>Conclusions</p> <p>E-cadherin genetic screenings performed in low-risk areas for gastric cancer identified a higher frequency of <it>CDH1 </it>germline mutations. This data could open new approaches in the gastric cancer prevention test; before proposing a proband candidate for the <it>CDH1 </it>genetic screening, geographic variability, alongside the family history should be considered.</p
A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: A case control study in an Italian population
<p>Abstract</p> <p>Background</p> <p>Inherited genetic factors such as E-cadherin (<it>CDH1</it>) promoter variants are believed to influence the risk towards sporadic diffuse gastric cancer (DGC). Recently, a new regulatory region essential for <it>CDH1 </it>transcription has been identified in <it>CDH1 </it>intron 2.</p> <p>Methods</p> <p>We genotyped all known polymorphisms located within conserved sequences of <it>CDH1 </it>intron 2 (rs10673765, rs9932686, rs1125557, rs9282650, rs9931853) in an Italian population consisting of 134 DGC cases and 100 healthy controls (55 patient relatives and 45 unrelated, matched individuals). The influence of individual variants on DGC risk was assessed using χ<sup>2</sup>-tests and logistic regression. The relative contribution of alleles was estimated by haplotype analysis.</p> <p>Results</p> <p>We observed a significant (p < 0.0004) association of the <it>CDH1 </it>163+37235G>A variant (rs1125557) with DGC risk. Odds ratios were 4.55 (95%CI = 2.09–9.93) and 1.38 (95%CI = 0.75–2.55) for AA and GA carriers, respectively. When adjusted for age, sex, smoking status, alcohol intake and <it>H. pylori </it>infection, the risk estimates remained largely significant for AA carriers. Haplotype analysis suggested the 163+37235A-allele contributes to disease risk independently of the other variants studied.</p> <p>Conclusion</p> <p>The <it>CDH1 </it>163+37235G>A polymorphism may represent a novel susceptibility variant for sporadic DGC if confirmed in other populations. Considering the broad expression of E-cadherin in epithelia, this exploratory study encourages further evaluation of the 163+37235A-allele as a susceptibility variant in other carcinomas.</p
A Standardised Procedure for Evaluating Creative Systems: Computational Creativity Evaluation Based on What it is to be Creative
Computational creativity is a flourishing research area, with a variety of creative systems being produced and developed. Creativity evaluation has not kept pace with system development with an evident lack of systematic evaluation of the creativity of these systems in the literature. This is partially due to difficulties in defining what it means for a computer to be creative; indeed, there is no consensus on this for human creativity, let alone its computational equivalent. This paper proposes a Standardised Procedure for Evaluating Creative Systems (SPECS). SPECS is a three-step process: stating what it means for a particular computational system to be creative, deriving and performing tests based on these statements. To assist this process, the paper offers a collection of key components of creativity, identified empirically from discussions of human and computational creativity. Using this approach, the SPECS methodology is demonstrated through a comparative case study evaluating computational creativity systems that improvise music
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