285 research outputs found

    Neural Networks Track the Logical Complexity of Boolean Concepts

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    The language of thought hypothesis and connectionism provide two main accounts of category acquisition in the cognitive sciences. However, it is unclear to what extent their predictions agree. In this article, we tackle this problem by comparing the two accounts with respect to a common set of predictions about the effort required to acquire categories. We find that the two accounts produce similar predictions in the domain of Boolean categorization, however, with substantial variation depending on the operators in the language of thought

    Heavy Tails and the Shape of Modified Numerals

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    The pattern of implicatures of the modified numeral “more than n” depends on the roundness of n. Cummins et al. (2012) present experimental evidence for the relation between roundness and implicature patterns and propose a pragmatic account of the phenomenon. More recently, Hesse and Benz (2020) present more extensive evidence showing that implicatures also depend on the magnitude of n and propose a novel explanation based on the approximate number system (Dehaene, 1999). Despite the wealth of experimental data, no formal account has yet been proposed to characterize the full posterior distribution over numbers of a listener after hearing “more than n.” We develop one such account within the Rational Speech Act framework, quantitatively reconstructing the pragmatic reasoning of a rational listener. We argue that world knowledge about the distribution of the true quantity has a substantial impact on the information conveyed by the modified numeral. We show that our pragmatic account in combination with a heavy-tailed model of the participants' prior correctly predicts various features of the experimental data from Hesse and Benz (2020)

    An Alternatives Account of ‘Most’ and ‘More Than Half’

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    While ‘most’ and ‘more than half’ are generally assumed to be truth-conditionally equivalent, the former is usually interpreted as conveying greater proportions than the latter. Previous work has attempted to explain this difference in terms of pragmatic strengthening or variation in meanings. In this paper, we propose a novel explanation that keeps the truth-conditions equivalence. We argue that the difference in typical sets between the two expressions emerges as a result of two previously independently motivated mechanisms. First, the two expressions have different sets of pragmatic alternatives. Second, listeners tend to minimize the expected distance between their representation of the world and the speaker’s observation. We support this explanation with a computational model of usage in the Rational Speech Act framework. Moreover, we report the results of a quantifier production experiment. We find that our account can explain the difference in typical proportions associated with the two expressions

    AIF-1 gene does not confer susceptibility to Behçet's disease: Analysis of extended haplotypes in Sardinian population

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    Background BehcEet's disease (BD) is a polygenic immune-mediated disorder characterized by a close association with the HLA-B∗51 allele. The HLA region has a strong linkage disequilibrium (LD) and carries several genetic variants (e.g. MIC-A, TNF-α genes) identified as associated to BD because of their LD with HLA-B∗51. In fact, the HLA-B∗51 is inherited as part of extended HLA haplotypes which are well preserved in patients with BD. Sardinian population is highly differentiated from other Mediterranean populations because of a distinctive genetic structure with very highly preserved HLA haplotypes. Patients and methods In order to identify other genes of susceptibility to BD within the HLA region we investigated the distribution of human Allograft Inflammatory Factor-1 (AIF-1) gene variants among BD patients and healthy controls from Sardinia. Six (rs2736182; rs2259571; rs2269475; rs2857597; rs13195276; rs4711274) AIF-1 single nucleotide polymorphisms (SNPs) and related extended haplotypes have been investigated as well as their LD within the HLA region and with HLA-B∗51. Overall, 64 BD patients, 43 HLA-B∗51 positive healthy controls (HC) and 70 random HC were enrolled in the study. Results HLA-B∗51 was the only allele with significantly higher frequency (pc = 0.0021) in BD patients (40.6%) than in HC (9.8%). The rs2259571TAIF-1 variant had a significantly reduced phenotypic, but not allelic frequency in BD patients (72.1%; pc = 0.014) compared to healthy population (91.3%). That was likely due to the LD between HLA-B∗51 and rs2259571G(pc= 9E-5), even though the rs2259571Gdistribution did not significantly differ between BD patients and HC. Conclusion No significant difference in distribution of AIF-1 SNPs haplotypes was observed between BD patients and HC and between HLA-B∗51 positive BD patients and HLA-B∗51 positive HC. Taken together, these results suggest that AIF-1 gene is not associated with susceptibility to BD in Sardinia

    Dans mes forêts sauvages : melodie pour voix de bariton

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    Quoi! vous voulezet vous croyez peut etre,que sans regrĂȘt je quitte mes forĂȘtset le pays si douxqui m\u27a vu naĂźtrepour vos citĂ©s et vos brillants palais!ne venez pas sous nos sombres ombrages,lĂ , tout est calme et plein de majeste!.... ah! laissez moi dans mes forĂȘts sauvages,ce n\u27est que lĂ  qu\u27on rĂȘve en libertĂ©!ah! lassez moi dans mes forĂȘts sauvages,ce n\u27est que lĂ  qu\u27on rĂȘve en libertĂ©! ce n\u27est que lĂ  qu\u27on rĂȘve en libertĂ©! On m\u27avait dit que dans vos grandes villes vous recherchiez l\u27or qui vous Ă©blouit!pourquoi ces biens,ils nous sont inutiles,ici chacun les mĂ©prise et les fuit!on vous abreuve et de honte et d\u27outrages,nous, nous avons ici plus de fierte! Ah! laissez moi dans mes forĂȘts sauvagesce n\u27est que lĂ  qu\u27on rĂšgne en libertĂ©! Ah! laissez moi dans mes forĂȘts sauvages,ce n\u27est que lĂ  qu\u27on rĂšgne en libertĂ©ce n\u27est que lĂ  qu\u27on en libertĂ©! Si dans votre Ăąme une flamme nouvellesemble brĂ»ler au printems de vos jours,l\u27instant d\u27aprĂšs, vous ĂȘtes infidĂšle,nous, plus constans, nous aimons nous aimons pour toujours!dans votre coeur oĂč grondent les orages,vous n\u27avez plus ni foi nicharitĂ©! Ah! laissez moi dans mes forĂȘts sauvages, ce n\u27est que lĂ  qu\u27on aime en libertĂ©!Ah! laissez moi dans mes forĂȘts sauvages,ce n\u27est que lĂ , qu\u27on aime en libertĂ©!ce n\u27est que lĂ  qu\u27on aime en libertĂ©

    A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

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    Lynch syndrome is an autosomal-dominant hereditary condition predisposing to the development of specific cancers, because of germline mutations in the DNA-mismatch repair (MMR) genes. Large genomic deletions represent a significant fraction of germline mutations, particularly among the MSH2 gene, in which they account for 20% of the mutational spectrum. In this study we analyzed 13 Italian families carrying MSH2 exon 8 deletions, 10 of which of ascertained Sardinian origin. The overrepresentation of Sardinians was unexpected, as families from Sardinia account for a small quota of MMR genes mutation tests performed in our laboratory. The hypothesis that such a result is owing to founder effects in Sardinia was tested by breakpoint junctions sequencing and haplotype analyses. Overall, five different exon eight deletions were identified, two of which recurrent in families, all apparently unrelated, of Sardinian origin (one in eight families, one in two families). The c.1277–1180_1386+2226del3516insCATTCTCTTTGAAAA deletion shares the same haplotype between all families and appears so far restricted to the population of South-West Sardinia, showing the typical features of a founder effect. The three non-Sardinian families showed three different breakpoint junctions and haplotypes, suggesting independent mutational events. This work has useful implications in genetic testing for Lynch syndrome. We developed a quick test for each of the identified deletions: this can be particularly useful in families of Sardinian origin, in which MSH2 exon 8 deletions may represent 50% of the overall mutational spectrum of the four MMR genes causing Lynch syndrome

    Unrelated bone marrow transplantation in Thalassemia. The experience of the Italian Bone Marrow transplant Group (GITMO)

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    BACKGROUND AND OBJECTIVES: Allogeneic bone marrow transplantation (BMT) is a widely accepted therapeutic approach in homozygous beta-thalassemia. However, the majority of patients do not have a genotypically identical donor within the family. This prompted us to conduct a pilot study to investigate the feasibility of matched unrelated bone marrow transplantation in thalassemia. The major drawback was the high risk of immunologic and transplant-related complications, mainly graft-versus-host disease (GvHD) and graft failure. DESIGN AND METHODS: Our aim was to reduce this risk through careful selection of donor/recipient pairs. HLA haplotypes that show a high linkage disequilibrium among their class I, class II and class III alleles are considered extended or ancestral haplotypes. RESULTS: These haplotypes are conserved and can be shared by apparently unrelated individuals. Our study shows that matching for these haplotypes significantly improves the outcome of unrelated bone marrow transplantation in thalassemia. In fact, results were comparable to those obtained in transplants using HLA-identifical family donors. INTERPRETATION AND CONCLUSIONS: Better results were obtained in patients with lesser iron overload and when the donor shared an identity for the DPB1 alleles

    Retrospective screening of solid organ donors in Italy, 2009, reveals unpredicted circulation of West Nile virus

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    Since the occurrence of West Nile virus (WNV) infection in humans in 2008 in Italy, concerns have been raised about the potential risks associated with solid organ transplantation (SOT). A nationwide retrospective survey showed that 1.2% of SOT donors in 2009 were WNV-seropositive and demonstrated that human WNV infection is distributed throughout several Italian regions. Transmission of WNV or other arboviruses through SOT is a possibility and risk assessment should be carried out before SOT to avoid infection through transplantatation
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