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BackgroundPreconception Expanded Carrier Screening (ECS) is a genetic test offered to a general population or to couples who have no known risk of recessive and X-linked genetic diseases and are interested in becoming parents. A test may screen for carrier status of several autosomal recessive diseases at one go. Such a program has been piloted in the Netherlands and may become a reality in more European countries in the future. The ethical rationale for such tests is that they enhance reproductive (...) autonomy. The dominant conception of autonomy is individual-based. However, at the clinic, people deciding on preconception ECS will be counselledtogetherand are expected to make a joint decision, asa couple. The aim of the present study was to develop an understanding of autonomous decisions made by couples in the context of reproductive technologies in general and of preconception ECS in particular. Further, to shed light on what occurs in reproductive clinics and suggest concrete implications for healthcare professionals.Main textBased on the shift in emphasis from individual autonomy to relational autonomy, a notion ofcouple autonomywas suggested and some features of this concept were outlined. First, that both partners are individually autonomous and that the decision is reached through a communicative process. In this process each partner should feel free to express his or her concerns and preferences, so no one partner dominates the discussion. Further, there should be adequate time for the couple to negotiate possible differences and conclude that the decision is right for them. The final decision should be reached through consensus of both partners without coercion, manipulation or miscommunication. Through concrete examples, the suggested notion of couple autonomy was applied to diverse clinical situations.ConclusionsA notion of couple autonomy can be fruitful for healthcare professionals by structuring their attention to and support of a couple who is required to make an autonomous joint decision concerning preconception ECS. A normative implication for healthcare staff is to allow the necessary time for decision-making and to promote a dialogue that can increase the power of the weaker part in a relationship. (shrink)

ResumeLa question du filtrage de ľinformation génétique dans la cellule est fondamentale. Comment la cellule sélectionne‐t‐elle, avant de les transformer en RNA puis en protéines, certaines parties bien déterminées de son information génétique? Il ne sera probablement pas possible de donner une explication cohérente du développement embryonnaire, de la différentiation cellulaire et du maintien de ľétat différencie tant que nous n'aurons pas repondu de manière satis‐faisante à cette question.Dans un premier chapitre, quelques notions de base concernant ľexpression génétique sont préséntées. (...) Le dogme de flux de ľinformation génétique dans la cellule, DNARNA protéine est valable à la fois pour les procaryotes et les eucaryotes malgré des différences significatives au niveau de la structure et de la régulation des gènes. Contrairement aux génes procaryotes, la plu‐part des gènes eucaryotes sont morcelés. Le DNA codant pour une protéine est interrompu par des régions non‐codantes dont les transcrits sont éliminés par excision pendant la maturation du RNA messager ultérieurement traduit en protéine. Une grande variété de mécanismes interviennent dans la régulation de ľactivité de ces gènes.Le pouvoir et les limites des méthodes modernes de ľanalyse structurale et fonctionnelle des génes sont discutés dans la deuxième partie de ľarticle. Ľhybridation moléculaire reposant sur la complémentarité des bases azotées des acides nucléiques joue un rôle déterminant dans ľétude de la complexity des génomes et de leur expression. Récemment, ľapplication de la technologie du DNA recombinant et des techniques annexes a permis ľisolement ainsi que la caractérisation de plusieurs génes eucaryotes. La question de ľexpression différentielle de ces génes est actuellement intensément étudiée dans plusieurs systèmes de transcription ayant chacun ses points forts et ses faiblesses.En guise de conclusion, quelques implications de ľessor prodigieux que connaît la génétique moléculaire sont discutées.SummaryThe question of selective expression of genetic information in the cell is fundamental. How does a cell choose particular parts of its genetic information prior to transforming them into RNA and then into proteins? It will probably not be possible to give a coherent explanation of embryonic development, of cell differentiation, and of the maintenance of the differentiated state as until we have answered this question satisfactorily.In the first chapter, several basic notions concerning genetic expression are presented. The central dogma of the flow of genetic information in the cell, DNARNA‐ protein is valid both for prokaryotes and eukaryotes despite significant differences at the level of gene structure and regulation. In contrast to prokaryotic genes, most eukaryotic genes are split. The DNA coding for a protein is interrupted by non‐coding regions whose transcripts are eliminated by excision during the maturation of the messenger RNA which will subsequently be translated into protein. A wide variety of mecanisms are implicated in the regulation of these genes.The scope and limits of modern methods for the structural and functional analyses of genes are discussed in the second part of the article. Molecular hybridization, which is based on the complementarity between the bases of the nucleic acids, plays a key role in the study of the complexity and expression of genes. Recently, the application of recombinant DNA technology and associated techniques has allowed the isolation as well as the characterization of several eukaryotic genes. The question of the differential expression of these genes is currently studied intensively in many transcription systems which all have their strengths and weaknesses.As a conclusion, several implications of the prodigious progress of molecular genetics are discussed.ZusammenfassungDie Frage nach der selektiven Expression der genetischen Information in der Zelle ist fundamental. Wie wählt eine Zelle bestimmte Teile ihrer genetischen Information, um diese dann in RNA und Proteine zu übersetzen? Wahrscheinlich wird es nicht möglich sein, eine vollständige Erklärung für die Embryonalentwicklung, für die Zeildifferenzierung und für di Aufrechterhaltung des differenzierten Zustandes zu geben, bevor wir eine befriedigende Antwort auf diese Frage gefunden haben.Im ersten Kapitel sind mehrere grundlegende Erkenntnisse über die Genexpression dargestellt. Das zentrale Dogma über den Fluss der genetischen Information in der Zelle, DNA RNA Protein, gilt sowohl für Prokaryonten als auch für Eukaryonten trotz bedeutender Unterschiede auf der Ebene der Genstruktur und Genregulation. Im Gegensatz zu den Genen von Prokaryonten sind die meisten Gene der Eukaryonten unterteilt. Die DNA, welche für ein Protein kodiert, ist durch nicht‐kodierende Regionen unterbrochen, welche wahrend des Reifungsprozesses der messenger RNA herausgeschnitten werden. Diese messenger RNA wird schliesslich in ein Protein iibersetzt. Sehr verschiedenartige Mechanismen sind an der Regulation dieser Gene beteiligt.Im zweiten Teil des Artikels werden Ziele und Grenzen moderner Methoden zur Analyse von Struktur und Funktion von Genen diskutiert. Molekulare Hybridisation, welche auf der Komplementarität zwischen den Basen der Nukleinsäuren beruht, spielt eine Schlüsselrolle in der Analyse der Komplexität und Expression der Gene. Die Anwendung der rekombinanten DNA Technologie sowie damit zusammenhängender Methoden hat kürzlich die Isolierung und Charak‐terisierung verschiedener eukaryontischer Gene erlaubt. Die Frage nach der differenziellen Expression dieser Gene wird gegenwärtig mit Hilfe verschiedener Transkriptionssysteme, welche alle ihre Stärken und Schwächen haben, intensiv studiert.Zusammenfassend werden verschiedene Implikationen des gewaltigen Fortschrittes der molekularen Genetik diskutiert. (shrink)

A number of philosophers have recently argued that consciousness properties are identical with some set of physical or functional properties and that we can explain away the frequently felt puzzlement about this claim as a delusion or confusion generated by our different ways of apprehending or thinking about consciousness. This paper examines David Papineau’s influential version of this view. According to Papineau, the difference between our “phenomenal” and “material” concepts of consciousness produces an instinctive but erroneous intuition that these concepts (...) can’t co-refer. I claim that this account fails. To begin with, it is arguable that we are mystified about physicalism even when the account predicts that we shouldn’t be. Further, and worse, the account predicts that an “intuition of distinctness” will arise in cases where it clearly does not. In conclusion, I make some remarks on the prospects for, constraints on, and alternatives to, a successful defence of the claim. (shrink)

L'expérience de théorisation d'Edgar Morin a été, pour nous sociologues, bien plus qu'un témoignage exemplaire. Elle a aidé à entamer un parcours épistémologique ; la discipline sociologique peut, en effet, apparaître comme une partition à plusieurs voix au travers d'une discussion non seulement sociologique, mais aussi, anthropologique et philosophique, et ce, en trois temps : la rupture, la construction et la constatation. Ce livre est, ainsi, conçu comme un "aide à penser", d'une part, la genèse de la sociologie, en revisitant (...) les auteurs canoniques (Marx, Durkheim, Weber) et les théories sociologiques contemporaines, et, d'autre part, la complexité des défis culturels, sociaux et politiques, dans nos sociétés. L'expérience d'une pensée aussi rigoureuse que la complexité ne peut se faire par procuration. Il fallait contribuer à l'initiation à la sociologie et beaucoup d'attention pour oser penser par soi-même. L'ouvrage porte sur des problèmes de "théorie", mais tous s'appuient sur des données ethnographiques (enquêtes de terrain). Enfin, l'ouvrage d'Ali Aït Abdelmalek s'inscrit dans son projet de création, à l'Université de Rennes 2, d'un Groupement d'intérêt scientifique "Institut de la complexité : Territoire, Identité, Patrimoine et Politique", en collaboration avec la Fondation Edgar Morin."--Page 4 of cover. (shrink)

Colours and consciousness both present us with metaphysical problems. But what exactly are the problems? According to standard accounts, they are roughly the following. On the one hand, we have reason to believe, about both colour and consciousness, that they are identical with some familiar natural phenomena. But on the other hand, it is hard to see how these identities could obtain. I argue that this is an adequate characterisation of our metaphysical problem of colour, but a mischaracterisation of the (...) problem of consciousness. It mischaracterises the problem by presenting consciousness as more 'colour-like' than we have reason to take it to be. The real problem of consciousness is, I suggest, that almost nothing theoretically useful is known about this phenomenon at present. I also explore some implications of this perspective on the problem of consciousness. Given the shape of the problem, I argue that we can't rule out all forms of eliminativism about consciousness. Nor can we rule out that future research will close the ' explanatory gap' that consciousness gives rise to. (shrink)