We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)

VAN PRAAG (Paul), Introduction : le Père Henri Bosmans, histo­rien des mathématiques (pp. 7-16). SAUVAGE (Pierre), Notice biographique du Père Henri Bosmans (pp. 17-25). HERMANS (Michel), Henri Bosmans : sa formation et ses réseaux de rela­tions (pp. 27-72). DELANGHE (Richard), Quelques aspects de la vie et de l’œuvre de Paul Mansion (1844-1919) (pp. 73-82). BRIGAGLIA (Aldo), Saccheri vu par Corrado Segre en Italie et par Mansion et Bosmans en Belgique / traduit de l’italien par Bruna GAINO et Patricia RADELET-DE (...) GRAVE (pp. 83-104). MAWHIN (Jean), La tentative belge d’édition des œuvres complètes d’Euler vue par Henri Bos­mans (pp. 105-133). GOLVERS (Noël), Henri Bosmans, s.j., et la mission jésuite en Chine / traduit du néerlandais par Anne-Sophie MEURICE (pp. 135-152). ROMANO (Antonella), Henri Bosmans, jésuite et historien des mathéma­tiques dans la Belgique du premier XXe siècle (pp. 153-168). SAUVAGE (Pierre), Le Père Henri Bosmans et l’historiographie au tournant du XXe siècle (pp. 169-187). RADELET-DE GRAVE (Patricia), Le fonds Henri Bos­mans / avec un ajout de Michel HERMANS (pp. 189-215). MANSION (Paul), Correspondance de Paul Mansion adres­sée à Henri Bosmans / introduction, trans­cription et annotation par Michel HERMANS (pp. 217-251). HEEFFER (Albrecht) – HERMANS (Michel) – STOFFEL (Jean-François), Bibliographie d’Henri Bosmans (pp. 253-298). (shrink)

Mature spermatozoa are permeable to foreign DNA and RNA molecules. Here I propose a model, whereby extrachromosomal genetic information, mostly encoded in the form of RNA in somatic cells, can cross the Weismann barrier and reach epididymal spermatozoa. LINE‐1 retrotransposon‐derived reverse transcriptase (RT) can play key roles in the process by expanding the RNA‐encoded information. Retrotransposon‐encoded RT is stored in mature gametes, is highly expressed in early embryos and undifferentiated cells, and becomes downregulated in differentiated cells. In turn, RT plays (...) a role in developmental control, as its inhibition arrests developmental progression of early embryos with globally altered transcriptomic profiles. Thus, sperm cells act as recipients, and transgenerational vectors of somatically derived genetic information which they pass to the next generation with the potential to modify the fate of the developing embryos. (shrink)

The notion of a minimal form is defined as an extension of the notion of a normal form in λ-β-calculus and its meaning is discussed in a computational environment. The features of the Knuth-Gross reduction strategy are used to prove that to possess a minimal form, for a generic term, is a semidecidable predicate.

The rejection of Mou Tun-fei’s End of Track (late 1960s), an ‘invisible’ film, never distributed, proves to what extent the themes it tackled (homosexuality, class difference, nihilism) were taboo for an entire generation. Banana Paradise (1980s) deals with the way two brothers in arms survive by usurping the identity of deceased comrades and eventually living in a society in exile tainted by the memory of the continent. Finally, Gf/Bf (2000s) develops themes that were once censored (homosexuality, democratization) and which resurface (...) through the lens of a love triangle. Despite their heterogeneity, these films allow us to draw a history of this fraternal relationship in ambiguous and dissonant contexts. Through three films from different periods, I trace the evolution over time of the representation of friendship between men, an evolution that reveals a ‘paradigm shift’ within Taiwanese society itself. (shrink)

Despite the impressive body of evidence supporting the existence of a mirror neuron (MN) system for action, the original claim regarding its crucial role in action understanding remains controversial. Emma Borg has recently launched a sharp attack on this claim, with the aim of demonstrating that neither the original version nor the subsequent revisions of the MN hypothesis tell us very much about how intentional attribution actually works. In this article I take up the challenge she issues in the title (...) of her paper (If Mirror Neurons are the Answer, What was the Question?) and argue that what MNs offer is not as Borg claims 'an extremely limited' picture of action understanding but rather an enriched picture that brings to light aspects of social cognition hitherto ignored in the mind-reading literature, showing how intentional motor components of action can shape social cognition prior to and apart from any forms of deliberate mentalizing. (shrink)

People walk, build, paint and otherwise act together with a purpose in myriad ways. What is the relation between the actions people perform in acting together with a purpose and the outcome, or outcomes, to which their actions are directed? We argue that fully characterising this relation will require appeal not only to intention, knowledge and other familiar philosophical paraphernalia but also to another kind of representation involved in preparing and executing actions, namely motor representation. If we are right, motor (...) representation plays a central role in the story of acting together. (shrink)

In the present article we discuss the relevance of the mirror mechanism for our sense of self and our sense of others. We argue that, by providing us with an understanding from the inside of actions, the mirror mechanism radically challenges the traditional view of the self and of the others. Indeed, this mechanism not only reveals the common ground on the basis of which we become aware of ourselves as selves distinct from other selves, but also sheds new light (...) on the content of our self and other experience, showing that we primarily experience ourselves and the others in terms of our own and of their motor possibilities respectively. -/- . (shrink)

The paper discusses non-pharmaceutical interventions (NPIs) as a collective form of protection that, in terms of health justice, benefits groups at risk, allowing them to engage in social life and activities during health crises. More specifically, the paper asserts that NPIs that realize social distancing are justifiable insofar as they are constitutive of a type of social protection that allows everyone, especially social disadvantaged agents, to access the public health sphere and other fundamental social spheres, such as the family and (...) civil society. (shrink)

This article sheds light upon the role of the audience in the construction and amendment of populist representative claims that in themselves strengthen representative-represented relationships and simultaneously strengthen ties between the represented who belong to different constituencies. I argue that changes in populist representative claims can be explained by studying the discursive relationship between a populist representative and the audience as a conversation in which both poles give and receive something. From this perspective, populist representative claims, I also argue, can (...) be understood as acts of bonding with the intended effect of constituting ‘the people,’ and inputs from the audience can be seen as conversational exercitives. Populist appeals therefore may change when the audience enacts new permissibility facts and signals to populist representatives that there is another way to strengthen relationships between several individuals belonging to otherwise-different constituencies. (shrink)

Motor representations live a kind of double life. Although paradigmatically involved in performing actions, they also occur when merely observing others act and sometimes influence thoughts about the goals of observed actions. Further, these influences are content-respecting: what you think about an action sometimes depends in part on how that action is represented motorically in you. The existence of such content-respecting influences is puzzling. After all, motor representations do not feature alongside beliefs or intentions in reasoning about action; indeed, thoughts (...) are inferentially isolated from motor representations. So how could motor representations have content-respecting influences on thoughts? Our aim is to solve this puzzle. In so doing, we shall provide the basis for an account of how experience links the motoric with thought. Such an account matters for understanding how humans think about action: in some cases, we have reasons for thoughts about actions that we would not have if we were unable to represent those actions motorically. (shrink)

Food allergy represents an increasing public health issue, and a large number of food control authorities have provided regulations aimed to minimize the risk of allergic reaction for sensitized consumers. The Food and Agriculture Organization of the United Nations together with the World Health Organization established the Codex Alimentarius Commission whose main goal is to protect the consumers’ health. To purse this task the Commission listed the foods and ingredients causing the most severe allergic reactions that should be labelled. It (...) has been reported that some cases of specific foods hypersensitivity display a different prevalence among different Countries. Thus, the European Union drew up a list of mandatory allergens longer than that provided by Codex Alimentarius. As a consequence of the complexity of the legal phraseology of the European Union and/or European Community the Regulations and/or Directives were differently translated in all EC/EU official languages determining possible misinterpretations of the legislation. Moreover, food labelling regulations were also established with the goal to promote the consumers’ conscious choice about what they eat. Starting from the case of the fermented beverages, we analysed the European legislative scenario concerning the allergen labelling of the last fifteen years, highlighting that mistranslations, misinterpretations and lack of information in the EU Regulations might lead to health and ethical issues. (shrink)

In three experiments, we investigated the priming effects induced by an image change on a successive animate/inanimate decision task. We studied both perceptual and conceptual priming effects, under correct change detection and change blindness . Under correct change detection, we found larger positive priming effects on congruent trials for probes representing animate entities than for probes representing artifactual objects. Under CB, we found performance impairment relative to a “no-change” baseline condition. This inhibition effect induced by CB was modulated by the (...) semantic congruency between the changed item and the probe in the case of probe images, but not for probe words. We discuss our results in the context of the literature on the negative priming effect. (shrink)

The aim of this paper is to reconstruct and critically assess the evidential relationship between neuroscience and educational practice. To do this, I reconstruct a standard way in which evidence from neuroscience is used to support recommendations about educational practice, that is, testing pedagogical interventions using neuroimaging methods, and discuss and critically assess the inference behind this approach. I argue that this inference rests on problematic assumptions, and, therefore, that neuroimaging intervention studies have no special evidential status for basing educational (...) practice. I conclude arguing that these limitations could be resolved by integrating evidence from neurocognitive and educational science. (shrink)

This paper aims to enrich the idea of the institutionalized sphere of recognition developed by Axel Honneth and Pierre Bourdieu’s concept of the “social field” by combining them. First, it underlines the characteristics that the two viewpoints share. Second, the paper argues that their combination can be mutually beneficial for overcoming some of their respective theoretical limits: the issue of the determination of the amplitude of the social field and the nature of the power that institutions of recognition exercise on (...) individuals. (shrink)

What is the event? How the phenomenology of event is possible if the "event" is not the phenomenon in the classical meaning of this word? French philosopher Claude Romano discusses these questions with his Russian colleague Ruslan Loshakov. The interlocutors consider the concept of event in different contexts, paying special attention to the relationships which connect the phenomenology of event with Husserl, Bergson, Heidegger and Levinas' ideas.

Several authors have recently pointed out the hyper-mentalism of the standard mindreading models, arguing for the need of an embodied and enactive approach to social cognition. Various attempts to provide an account of the primary ways of interacting with others, however, have fallen short of allowing for both what kind of intentional engagement is crucial in the basic forms of social navigation and also what neural mechanisms can be thought to underpin them. The aimof the paper is to counter this (...) fault by showing that most of the primary ways of making sense of others are motor in nature and rooted in a specific brain mechanism: the mirror mechanism. I shall argue that the mirror-based making sense of others not only can be construed within the enactive approach to social cognition, but also allows us to refine it, supplying a plausible and unitary account of the early forms of social interaction. (shrink)

Artefacts are usually understood in contrast with natural kinds and conceived as a unitary kind. Here we propose that there is in fact a variety of artefacts: from the more concrete to the more abstract ones. Moreover, not every artefact is able to fulfil its function thanks to its physical properties: Some artefacts, particularly what we call “institutional” artefacts, are symbolic in nature and require a system of rules to exist and to fulfil their function. Adopting a standard method to (...) measure conceptual representation (the property generation task), we have experimentally explored how humans conceptualise these different kinds of artefacts. Results indicate that institutional artefacts are typically opposed to social objects, while being more similar to standard artefacts, be they abstract or concrete. (shrink)