135 research outputs found

    Influence Diagrams With Memory States: Representation and Algorithms

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    Abstract. Influence diagrams (IDs) offer a powerful framework for decision making under uncertainty, but their applicability has been hindered by the exponential growth of runtime and memory usage—largely due to the no-forgetting assumption. We present a novel way to maintain a limited amount of memory to inform each decision and still obtain near-optimal policies. The approach is based on augmenting the graphical model with memory states that represent key aspects of previous observations—a method that has proved useful in POMDP solvers. We also derive an efficient EM-based message-passing algorithm to compute the policy. Experimental results show that this approach produces highquality approximate polices and offers better scalability than existing methods.

    Athlete experiences of disordered eating in sport

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    To date, research into disordered eating in sport has focused on the prevalence and the identification of putative risk factors. Findings suggest that elite female athletes participating in sports with a focus on leanness or aesthetics are at greatest risk. A paucity of research remains as to the period after onset and how existing sufferers manage their illness over time. In line with the principles of interpretative phenomenological analysis (IPA), this study 'gives voice' to four athletes who have experienced disordered eating, documenting their personal accounts and interpreting these accounts from a psychological perspective. In‐depth, semi‐structured interviews were conducted and verbatim transcripts were analysed according to the procedures of IPA. Three superordinate themes emerged from the data: the struggle to disclose, social support needs and identity challenges. Athletes' stories provided rich descriptions of their subjective disordered eating experiences. Their accounts give critical insight into the impact of eating disturbance on the lives of athletes. Future research should continue to identify athletes with existing eating problems in order to improve understanding as to how such individuals can best be helped

    Evidence for increasing global wheat yield potential

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    Wheat is the most widely grown food crop, with 761 Mt produced globally in 2020. To meet the expected grain demand by mid-century, wheat breeding strategies must continue to improve upon yield-advancing physiological traits, regardless of climate change impacts. Here, the best performing doubled haploid (DH) crosses with an increased canopy photosynthesis from wheat field experiments in the literature were extrapolated to the global scale with a multi-model ensemble of process-based wheat crop models to estimate global wheat production. The DH field experiments were also used to determine a quantitative relationship between wheat production and solar radiation to estimate genetic yield potential. The multi-model ensemble projected a global annual wheat production of 1050 ± 145 Mt due to the improved canopy photosynthesis, a 37% increase, without expanding cropping area. Achieving this genetic yield potential would meet the lower estimate of the projected grain demand in 2050, albeit with considerable challenges.Fil: Guarin, Jose Rafael. National Aeronautics and Space Administration; Estados Unidos. Columbia University; Estados Unidos. Florida State University; Estados UnidosFil: Martre, Pierre. Institut Agro Montpellier SupAgro; FranciaFil: Ewert, Frank. Universitat Bonn; Alemania. Leibniz Centre for Agricultural Landscape Research; AlemaniaFil: Webber, Heidi. Universitat Bonn; Alemania. Leibniz Centre for Agricultural Landscape Research; AlemaniaFil: Dueri, Sibylle. Institut Agro Montpellier SupAgro; FranciaFil: Calderini, Daniel Fernando. Universidad Austral de Chile; ChileFil: Reynolds, Matthew. International Maize and Wheat Improvement Center ; MéxicoFil: Molero, Gemma. KWS; FranciaFil: Miralles, Daniel Julio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura. Universidad de Buenos Aires. Facultad de Agronomía. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura; ArgentinaFil: Garcia, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura. Universidad de Buenos Aires. Facultad de Agronomía. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura; ArgentinaFil: Slafer, Gustavo Ariel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura. Universidad de Buenos Aires. Facultad de Agronomía. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura; Argentina. Universitat de Lleida; España. Institució Catalana de Recerca i Estudis Avancats; EspañaFil: Giunta, Francesco. Consiglio Nazionale Delle Ricerche. Istituto Di Scienze Dell Atmosfera E del Clima.; ItaliaFil: Pequeno, Diego N.L.. International Maize and Wheat Improvement Center; MéxicoFil: Stella, Tommaso. Universitat Bonn; Alemania. Leibniz Centre for Agricultural Landscape Research; AlemaniaFil: Ahmed, Mukhtar. University Of Pakistan; PakistánFil: Alderman, Phillip D.. Oklahoma State University; Estados UnidosFil: Basso, Bruno. Michigan State University; Estados UnidosFil: Berger, Andres G.. Instituto Nacional de Investigacion Agropecuaria;Fil: Bindi, Marco. Università degli Studi di Firenze; ItaliaFil: Bracho-Mujica, Gennady. Universität Göttingen; AlemaniaFil: Cammarano, Davide. Purdue University; Estados UnidosFil: Chen, Yi. Chinese Academy of Sciences; República de ChinaFil: Dumont, Benjamin. Université de Liège; BélgicaFil: Rezaei, Ehsan Eyshi. Leibniz Institute Of Plant Genetics And Crop Plant Research.; AlemaniaFil: Fereres, Elias. Universidad de Córdoba; EspañaFil: Ferrise, Roberto. Michigan State University; Estados UnidosFil: Gaiser, Thomas. Universitat Bonn; AlemaniaFil: Gao, Yujing. Florida State University; Estados UnidosFil: Garcia Vila, Margarita. Universidad de Córdoba; EspañaFil: Gayler, Sebastian. Universidad de Hohenheim; Alemani

    Routine versus on demand removal of the syndesmotic screw; A protocol for an international randomised controlled trial (RODEO-trial)

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    Background: Syndesmotic injuries are common and their incidence is rising. In case of surgical fixation of the syndesmosis a metal syndesmotic screw is used most often. It is however unclear whether this screw needs to be removed routinely after the syndesmosis has healed. Traditionally the screw is removed after six to 12 weeks as it is thought to hamper ankle functional and to be a source of pain. Some studies however suggest this is only the case in a minority of patients. We therefore aim to investigate the effect of retaining the syndesmotic screw on functional outcome. Design: This is a pragmatic international multicentre randomised controlled trial in patients with an acute syndesmotic injury for which a metallic syndesmotic screw was placed. Patients will be randomised to either routine removal of the syndesmotic screw or removal on demand. Primary outcome is functional recovery at 12 months measured with the Olerud-Molander Score. Secondary outcomes are quality of life, pain and costs. In total 194 patients will be needed to demonstrate non-inferiority between the two interventions at 80% power and a significance level of 0.025 including 15% loss to follow-up. Discussion: If removal on demand of the syndesmotic screw is non-inferior to routine removal in terms of functional outcome, this will offer a strong argument to adopt this as standard practice of care. This means that patients will not have to undergo a secondary procedure, leading to less complications and subsequent lower costs. Trial registration: This study was registered at the Netherlands Trial Register (NTR5965), Clinicaltrials.gov (NCT02896998) on July 15th 2016

    Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

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    Purpose Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases. Methods Homozygosity mapping and whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46,XY DSD. Additional cases with 46,XY DSD underwent whole-exome sequencing and targeted next-generation sequencing of ESR2. Functional characterization of the identified variants included luciferase assays and protein structure analysis. Gonadal ESR2 expression was assessed in human embryonic data sets and immunostaining of estrogen receptor-β (ER-β) was performed in an 8-week-old human male embryo. Results We identified a homozygous ESR2 variant, c.541_543del p.(Asn181del), located in the highly conserved DNA-binding domain of ER-β, in an individual with syndromic 46,XY DSD. Two additional heterozygous missense variants, c.251G>T p.(Gly84Val) and c.1277T>G p.(Leu426Arg), located in the N-terminus and the ligand-binding domain of ER-β, were found in unrelated, nonsyndromic 46,XY DSD cases. Significantly increased transcriptional activation and an impact on protein conformation were shown for the p.(Asn181del) and p.(Leu426Arg) variants. Testicular ESR2 expression was previously documented and ER-β immunostaining was positive in the developing intestine and eyes. Conclusion Our study supports a role for ESR2 as a novel candidate gene for 46,XY DSD

    Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium

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    Background Data are limited on genome-wide association studies (GWAS) for incident coronary heart disease (CHD). Moreover, it is not known whether genetic variants identified to date also associate with risk of CHD in a prospective setting. Methods We performed a two-stageGWAS analysis of incident myocardial infarction (MI) and CHD in a total of 64,297 individuals (including 3898MI cases, 5465 CHD cases). SNPs that passed an arbitrary threshold of 5×10-6 in Stage I were taken to Stage II for further discovery. Furthermore, in an analysis of prognosis, we studied whether known SNPs from former GWAS were associated with totalmortality in individuals who experienced MI during follow-up. Results In Stage I 15 loci passed the threshold of 5×10-6; 8 loci for MI and 8 loci for CHD, for which one locus overlapped and none were reported in previous GWAS meta-analyses. We took 60 SNPs representing these 15 loci to Stage II of discovery. Four SNPs near QKI showed nominally significant association with MI (p-value<8.8×10-3) and three exceeded the genome-wide significance threshold when Stage I and Stage II results were combined (top SNP rs6941513: p = 6.2×10-9). Despite excellent power, the 9p21 locus SNP (rs1333049) was only modestly associated with MI (HR = 1.09, p-value = 0.02) and marginally with CHD (HR = 1.06, p-value = 0.08). Among an inception cohort of those who experienced MI during follow-up, the risk allele of rs1333049 was associated with a decreased risk of subsequent mortality (HR = 0.90, p-value = 3.2×10-3). Conclusions QKI represents a novel locus that may serve as a predictor of incident CHD in prospective studies. The association of the 9p21 locus both with increased risk of first myocardial infarction and longer survival after MI highlights the importance of study design in investigating genetic determinants of complex disorders

    The evolution of language: a comparative review

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    For many years the evolution of language has been seen as a disreputable topic, mired in fanciful &quot;just so stories&quot; about language origins. However, in the last decade a new synthesis of modern linguistics, cognitive neuroscience and neo-Darwinian evolutionary theory has begun to make important contributions to our understanding of the biology and evolution of language. I review some of this recent progress, focusing on the value of the comparative method, which uses data from animal species to draw inferences about language evolution. Discussing speech first, I show how data concerning a wide variety of species, from monkeys to birds, can increase our understanding of the anatomical and neural mechanisms underlying human spoken language, and how bird and whale song provide insights into the ultimate evolutionary function of language. I discuss the ‘‘descended larynx’ ’ of humans, a peculiar adaptation for speech that has received much attention in the past, which despite earlier claims is not uniquely human. Then I will turn to the neural mechanisms underlying spoken language, pointing out the difficulties animals apparently experience in perceiving hierarchical structure in sounds, and stressing the importance of vocal imitation in the evolution of a spoken language. Turning to ultimate function, I suggest that communication among kin (especially between parents and offspring) played a crucial but neglected role in driving language evolution. Finally, I briefly discuss phylogeny, discussing hypotheses that offer plausible routes to human language from a non-linguistic chimp-like ancestor. I conclude that comparative data from living animals will be key to developing a richer, more interdisciplinary understanding of our most distinctively human trait: language

    Identification of common genetic risk variants for autism spectrum disorder

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    Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe
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