A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane E. McCarthy,Carl Baker,Heather C. Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren M. Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara A. Ellingwood,Rosemarie Smith,Valerie C. Banks,Wendy Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R. Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Kathryn L. Friend,Marco Fichera,CorradoRomano,Jozef Gécz,Lynn E. DeLisi,Jonathan Sebat,Mary-Claire King,Lisa G. Shaffer & Eic -unknowndetailsWe 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)
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Le Père Henri Bosmans sj (1852-1928), historien des mathématiques : actes des Journées d’études organisées les 12 et 13 mai 2006 au Centre interuniversitaire d’études des religions et de la laïcité de l’Université libre de Bruxelles et le 15 mai 2008 aux Facultés universitaires Notre-Dame de la Paix à Namur.Michel Hermans &Jean-François Stoffel -2010 - Académie royale de Belgique.detailsVAN 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 parCorrado 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)
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Event and world.ClaudeRomano -2009 - New York: Fordham University Press.detailsClaudeRomano seeks to change all that, to describe precisely what sort of phenomenon an event is and to establish how it can be grasped via a phenomenology.
(1 other version)Motor representation in acting together.Corrado Sinigaglia &Stephen A. Butterfill -2022 -Synthese 200 (2):1-16.detailsPeople 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)
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Soma to germline inheritance of extrachromosomal genetic information via a LINE‐1 reverse transcriptase‐based mechanism.Corrado Spadafora -2016 -Bioessays 38 (8):726-733.detailsMature 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)
On a puzzle about relations between thought, experience and the motoric.Corrado Sinigaglia &Stephen A. Butterfill -2015 -Synthese 192 (6):1923-1936.detailsMotor 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)
Mirror neurons: This is the question.Corrado Sinigaglia -2008 -Journal of Consciousness Studies 15 (10-11):70-92.detailsDespite 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)
Education, Democracy and Representation in John Stuart Mill's Political Philosophy.Corrado Morricone -2016 - Dissertation, Durham UniversitydetailsThis thesis is concerned with John Stuart Mill’s democratic theory. In chapter I, I examine the relations between political philosophy and political theory and science before providing a detailed outline of the aims of the dissertation. In chapter II, I argue that in order to reconcile the concepts of progress and equality within a utilitarian theory, a Millian political system needs to devise institutions that promote general happiness, protect individual autonomy, safeguard society from mediocrity. Chapter III discusses what different authors (...) have said about Mill and liberty, then explores James Mill’s theory of education and Coleridge’s influence on John Stuart Mill’s thought. I conclude by criticising Richard Arneson’s interpretation according to which the Considerations and On Liberty are inconsistent, and some of Gregory Claeys’ conclusions on Mill and paternalism. Chapter IV explores the methodology of the social sciences and the philosophy of history as found in Mill’s writings; then it considers Mill’s thought in regard to his father’s Radical proposals. I also discuss at some length the idea of the tyranny of the majority. Chapter V begins with a discussion of Hanna Pitkin’s theory of representation. I then provide a critical account of Richard Krouse and Nadia Urbinati’s interpretations of Mill. I conclude by arguing that, in a Millian democracy, the higher is the degree of complexity or the need for expertise in dealing with affairs, the greater is the bearing of the principle of competence in assessing whether a representative should act as a trustee or a delegate. I also introduce the idea of rational debate as a sort of ‘influence multiplier’, arguing that this would help to make a democracy rational and effective along Millian lines. In the last two chapters, I stress the relevance of Mill’s political philosophy as for some contemporary issues (nationalism, European federalism, current social and economic changes) while suggesting some potential further investigations, and summarise my conclusions. (shrink)
Blood brotherhood andbromance in Taiwan cinema.Corrado Neri -forthcoming -Diogenes.detailsThe 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)
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Fields of Recognition: A Dialogue Between Pierre Bourdieu and Axel Honneth.Corrado Piroddi -2022 -Human Studies 45 (2):311-339.detailsThis 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)
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Power and responsibility: a course of action for the new age.Romano Guardini -1961 - Chicago: Regnery.detailsThis is a reproduction of a book published before 1923. This book may have occasional imperfections such as missing or blurred pages, poor pictures, errant marks, etc. that were either part of the original artifact, or were introduced by the scanning process. We believe this work is culturally important, and despite the imperfections, have elected to bring it back into print as part of our continuing commitment to the preservation of printed works worldwide. We appreciate your understanding of the imperfections (...) in the preservation process, and hope you enjoy this valuable book. (shrink)
Counterspeech and Ordinary Citizens: How? When?Corrado Fumagalli -2021 -Political Theory 49 (6):1021-1047.detailsCentral to the still-nascent normative literature on counterspeech is the widespread belief that citizens should engage discursively with haters and the effects of hate speech. It is also increasingly clear that discursive engagement with intolerant members of society should be understood as a continuous and extended series of different and connected actions. Much less has been said about the ways that attempts in persuasion and direct responses to hate speech relate to one another and about when specific counterspeech actions should (...) happen. This essay advances a more expansive and refined account of counterspeech, which is understood as a combination of continuous discursive engagement with intolerant members of society and acts of distancing from haters (shaming, correcting falsehoods, “Not in my name” campaigns, protests, and forms of discursive exit). After reconsidering discursive agency distribution (that is, who is an active participant, how, and when) around public hate speech, I show that continuous discursive engagement with intolerant members of society should be interrupted by visible acts of distancing when haters make hateful representative claims. (shrink)
Challenging the transcendental position: the holism of experience.ClaudeRomano -2011 -Continental Philosophy Review 44 (1):1-21.detailsTaking the problem of perception and illusion as a leading clue, this article presents a new phenomenological approach to perception and the world: holism of experience. It challenges not only Husserl’s transcendentalism, but also what remains of it in Heidegger’s early thought, on the grounds that it is committed to the skeptical inference: Since we can always doubt any perception, we can always doubt perception as a whole. The rejection of such an implicit inference leads to a relational paradigm of (...) Being-in-the-World that differs from Heidegger’s on many points. (shrink)
Toward a methodology for the ethical analysis of clinical practice.Corrado Viafora -1999 -Medicine, Health Care and Philosophy 2 (3):283-297.detailsThe scope of this essay is to introduce and explain the methodology underlying the Lanza Foundation Protocol for the analysis of clinical cases. The essay is divided in three parts. Part one examines the Protocol's methodology within the whole evolutionary framework of argumentation in bioethics. Particular attention is given to the most significant methodologies developed in European bioethics. Part two describes the system of argumentation which serves as a frame for both approaches, namely, the normative and the hermeneutical. Finally, the (...) third part presents in an analytic fashion the operations which define the Protocol itself. The Protocol is the result of an interdisciplinary effort and it provides a detailed grid for analyzing and tackling the ethical components of clinical cases. The Protocol is primarily directed toward Ethics Committees in their consulting activity, yet it has been proven of considerable importance at an educational level also, particular in continuing education programs for health care professionals. (shrink)
Legal Metaphoric Artifacts.Corrado Roversi -manuscriptdetailsIn this paper I take it for granted that legal institutions are artifacts. In general, this can very well be considered a trivial thesis in legal philosophy. As trivial as this thesis may be, however, to my knowledge no legal philosopher has attempted an analysis of the peculiar reality of legal phenomena in terms of the reality of artifacts, and this is particularly striking because there has been much discussion about artifacts in general philosophy (specifically analytic metaphysics) over the last (...) twenty years. In particular, the concepts of intention, function, plan of action, and history are in competition to explain the ontology of artifacts, and a similar competition can be found at the core of legal theory. Such a striking parallelism between the domain of artifacts and that of legal institutions is a clue for legal ontology that deserves further attention: I will offer my own interpretation of this parallelism in the first part of this paper (Sections 2 and 3). In providing a theory of legal institutions as artifacts, one could be led to the conclusion that law is essentially an artificial phenomenon, something which does not bear any significant relationship to the natural domain. However, I think that such a conclusion would be mistaken. In fact, this is the second thesis I want to explore in this paper: not only that legal institutions are artifacts, but also that they can be artifacts which in some sense "mirror," or imitate, some descriptions of the natural, pre-social reality we live in. What I would like to show is not that legal institutions are "natural" in the sense that they have some feature which is not human-dependent, as some natural law theorists would say, but rather that their conceptual content can depend on our conceptualization of the natural domain despite being entirely artifactual. This is what I will call the "institutional mimesis" behind several important instances of legal artifacts, and I will deal with it in the second part of this paper (Sections 4 and 5). (shrink)
Institutionalized Policy Evaluation within the Democratic System: Why? When? How?Corrado Fumagalli -forthcoming -Journal of Applied Philosophy.detailsPhilosophers have expressed concerns about elite capture at various stages of the democratic decision‐making process. However, there has been no sustained normative analysis of government‐driven feedback platforms that enable different actors to formulate recommendations for revising or canceling existing laws and policies. My article addresses and fills this gap. I contend that government‐driven feedback platforms serve a dual purpose of influencing the policy‐making process and demonstrating that decisions are open to revision. I also argue that these feedback platforms are intended (...) to generate a normatively salient, forward‐looking, and balanced integration of technical knowledge and local knowledge, establishing the epistemic foundation for future deliberation. I then provide three normative standards that serve as a guide to balance expert knowledge with citizens' experience and values. (shrink)
Minimal forms in λ-calculus computations.Corrado Böhm &Silvio Micali -1980 -Journal of Symbolic Logic 45 (1):165-171.detailsThe 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.
Interview With ClaudeRomano.Ruslan Loshakov &ClaudeRomano -2017 -Horizon-Fenomenologicheskie Issledovaniya 6 (1):241-264.detailsWhat 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 ClaudeRomano 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.
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Amitiés recomposées : frères de sang et bromance dans le cinéma taiwanais.Corrado Neri -2020 -Diogène n° 265-265 (1-2):141-157.detailsLe rejet de End of Track de Mou Tunfei (fin années 60), film “invisible”, jamais distribué, prouve à quel point les thématiques abordées (homosexualité, différence de classes, nihilisme) étaient taboues pour toute une génération. Banana Paradise (années 80) évoque la façon dont deux frères d’armes survivent en usurpant l’identité de camarades décédés, et finissent par s’épanouir dans une société en exil taraudée par la mémoire du continent. Enfin, Gf/Bf (années 2000) développe des thématiques jadis censurées (homosexualité, démocratisation) et qui refont (...) surface via le prisme du triangle amoureux. Malgré leur hétérogénéité, ces films permettent de constituer une histoire de ce rapport fraternel dans des contextes ambigus et dissonants ; à travers trois films d’époques différentes, je retrace l’évolution dans le temps de la représentation de l’amitié entre hommes, une évolution qui révèle un « changement de paradigme » au sein même de la société taiwanaise. (shrink)
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(1 other version)Protection from the lie and protection of truth between philosophy and law.Corrado Del Bò -2019 -Governare la Paura. Journal of Interdisciplinary Studies:93.detailsIn the era of fake news, truth has become a different and more urgent political problem than the traditional issues of the arcana imperii and the lies of the rulers. Starting from this observation, and deepening some considerations contained in the essay by Hannah Arendt _Thruth and Politics_, the article offers a worried report on the possibility of truth (scientific and factual) not to be reduced to mere opinion among others, and concludes that only a loyal collaboration between epistemic authorities (...) and politics can make the judicial road for the protection of truth less attractive. (shrink)
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