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)

Medical criteria rooted in evidence-based medicine are often seen as a value-neutral ‘trump card’ which puts paid to any further debate about setting priorities for treatment. On this argument, doctors should stop providing treatment at the point when it becomes medically futile, and that is also the threshold at which the health purchaser should stop purchasing. This paper offers three kinds of ethical criteria as a counterweight to analysis based solely on medical criteria. The first set of arguments concerns futility, (...) probability and utility; the second, justice and fairness; the third, consent and competence. The argument is illustrated by two recent case studies about futility and priority-setting: the US example of ‘Baby Ryan’ and the UK case of ‘Child B’. (shrink)

Men’s hunting has dominated the discourse on energy capture and flow in the past decade or so. We turn to women’s roles as critical to household formation, pair-bonding, and intergenerational bonds. Their pivotal contributions in food processing and distribution likely promoted kinship, both genetic and affinal, and appear to be the foundation from which households evolved. With conscious recognition of household social units, variable cultural constructions of human kinship systems that were sensitive to environmental and technological conditions could emerge. Kinship (...) dramatically altered the organization of resource access for our species, creating what we term “kinship ecologies.” We present simple mathematical models to show how hunting leads to dependence on women’s contributions, bonds men to women, and bonds generations together. Kinship, as it organized transfers of food and labor energy centered on women, also became integrated with the biological evolution of human reproduction and life history. (shrink)

Three-parent IVF is proceeding towards partial legalisation in the UK, but is this process too hasty?

Through narrative reflections of Jack?s story of inclusive recreational sport, the meaning of dignity in professional practice is explored. Jack?s story is one of respect, strong humiliation and embarrassment, and vulnerability. Through the lens of relational ethics, the aggression of a stranger illustrates how the lack of mutual respect, compassion and knowledge creates experiences of indignity. Jack?s story highlights how relationships can shape, constrain and enable lives. Understanding that which constitutes a dignified recreational sport context for instructors and participants opens (...) opportunities for authentic social relationships based upon respect of oneself, as well as others to emerge. Jack?s narrative further reinforces the need to create pedagogical spaces for discussions of various forms of dignity and ethical professional practice in inclusive recreational sport contexts. (shrink)

Most opponents of somatic cell nuclear transfer and embryonic stem cell technologies base their arguments on the twin assertions that the embryo is either a human being or a potential human being, and that it is wrong to destroy a human being or potential human being in order to produce stem cell lines. Proponents’ justifications of stem cell research are more varied, but not enough to escape the charge of obsession with the status of the embryo. What unites the two (...) warring sides in ‘the stem cell wars’ is that women are equally invisible to both: ‘the lady vanishes.’ Yet the most legitimate property in the body is that which women possess in their reproductive tissue and the products of their reproductive labour. By drawing on the accepted characterisation in the common law of property as a bundle of rights, and on a Hegelian model of contract as mutual recognition, we can lessen the impact of the tendency to regard women and their ova as merely receptacles and women’s reproductive labour as unimportant. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Narrative Symposium:Living Organ DonationLaura Altobelli, Sherri Bauman, Janice Flynn, Andy Heath, Joseph Jacobs, Tim Joos, Amy K. Lewensten, Donna L. Luebke, Sarah A. McDaniel, Donald Olenick, Laurie E Post, Vicky Young, Blake Adams, Anonymous One, Michael Sauls, Christine Wright, Shannon D. Wyatt, and Cara Yesawich• An Altruistic Living Donor’s Story• Surgery for the Soul• Kidney Donation Story• The Essence of Giving—A Transplant Story• Love—the Risk Worth Taking• My (...) Donation Journey• A Life For A Life: My Gift To My Dad• Lessons Learned: The Realities of Living Organ Donation• Sarah’s List Exchange Experience• Accelerated Living Donation• Liver Donor Nightmare• Adrift After Donation• Getting Our Child Off Dialysis• A Living Donor’s Journey• The Spare Kidney• Living Donors are People Too• The Gift of Life—Walking by Faith• Journey of an Altruistic, Non–designated Living DonorCopyright © 2012 The Johns Hopkins University Press... (shrink)

Olszewski and Goldkind's (2018) article on pediatric decision making in the clinical care setting is articulate and well written. The authors understand the challenges in ensuring that pediatric pa...

This article, arising from a comparative European Commission project, analyses different national perspectives on bioethics issues.

This article explores the ethical implications of the goal of functional independence for persons with disabilities. Central to independence is protection against the fear and uncertainty of future dependency and assurance of a level of social status. Moreover, independence reflects individualism, autonomy and control of decisions about one's life. Dependency, in contrast, implies the inability to do things for oneself and reliance on others to assist with tasks of everyday life. The ethics of independence are explored within the context of (...) the medical and social constructionist models of disability and contrasted against the ethics of support that underscores self-regulated dependency. Self-regulated dependency gives emphasis to the need for support created through relationships, choices and the management of resources. Finally, the article concludes with a challenge to meaningfully translate the principles of ethics to the multiplicity of adapted physical activity contexts. (shrink)

There is an urgent need for reconstructing models of property to make them more women-friendly. However, we need not start from scratch: both ‘canonical’ and feminist authors can sometimes provide concepts which we can refine and apply towards women’s propertylessness. This paper looks in particular at women’s alienation from their reproductive labour, building on Marx and Delphy. Developing an economic and political rather than a psychological reading of alienation, it then considers how the refined and revised concept can be applied (...) to concrete examples in global justice for women: in particular, the commercialisation of embryonic and fetal tissue in the new stem cell technologies. (shrink)

Family planning is the usual modern route to producing a small family. Can human behavioral ecology provide a framework for understanding family planning behavior? Hillard S. Kaplan (Yearb. Phys. Anthropol. 39:91–135) has proposed a general theory of human parental investment based on the importance of skills development in children. As modern, skills-based, competitive market economies are established, parental investment strategies would be predicted to become oriented toward producing increasingly competitive offspring in a pattern of coordinated investment in their embodied capital—in (...) other words, skills training along with good health to ensure their long-term productivity. Parental embodied capital and resources are also expected to be associated with motivation to produce competitive offspring. The basic parental investment trade-off between quality and quantity should predict greater investment in fewer children and the adoption of family planning behavior. Data on family planning in two ethnic groups in Northeast India (Khasi and Bengali) currently experiencing early-phase transition into modern market economies from very different social and ecological baselines are examined within this analytical framework. The results show a mixture of strategies in conjunction with family planning that involve decreased as well as increased investment in the embodied capital of children among Bengali and a divergence of investments in education and health among Khasi. These mixtures of strategies provide some insight into the motivations to use family planning in the face of economic transition, given differing local cultural and ecological conditions and the opportunity structures they provide. (shrink)

One of the more interesting counter-intuitive findings in organizational research is that success breeds failure. This counter-intuitive has been described in termsof core rigidities, core incompetencies, and even the Icarus Paradox. The literature on these topics has concluded that success yields overconfidence and myopia in firms and their managers, and this eventually causes failure. We augment this literature by suggesting that success breeds not only internal pathologies that cause firms to misuse their established resources over time, but also external pathologies (...) that cause firms to lose access to new resources. In particular, success influences stakeholders’ perceptions of firms, causing firms to lose the benefits of underdog status and gain the problems of overlord status. We term this notion that success warps images of the successful, leading to their decline over time, the Helios Paradox, and suggest that dominant firms must counter natural tendencies to succumb to both the Icarus and Helios Paradoxes if they are to remain successful over time. (shrink)

After the commercialisation of induced pluripotent stem cells (IPSCs) in 2007, the pressure to commercialise women's eggs for stem cell research could have been expected to lessen. However, the pressure to harvest human eggs in large quantities for research has not diminished; rather, it has taken different directions, for example, in germline mitochondrial research. Yet there has been little acknowledgement of these technologies' need for human eggs, the possible risks to women and the ethical issues concerning potential exploitation. Rather, there (...) has been a renewed campaign to legalise payment for eggs in research, although the actual scientific advances are at best modest. This article shows why a market in women's eggs is ethically problematic in terms of the doctor's duty to do no harm and the limitations of informed consent. (shrink)

This chapter considers ethical issues involved in genetic testing and screening for susceptibility to various forms of cancer.

This article, based on a case study, examines issues of confidentiality and family impact in a diagnosis of Huntington's disease. Genetic-based illness transcends individualistic models of patient autonomy because it also involves other family members, requiring a new approach to patient confidentiality.

Protection against bacterial and viral pathogens by antibodies has always been thought to end at the cell surface. Once inside the cell, a pathogen was understood to be safe from humoral immunity. However, it has now been found that antibodies can routinely enter cells attached to viral particles and mediate an intracellular immune response. Antibody‐coated virions are detected inside the cell by means of an intracellular antibody receptor, TRIM21, which directs their degradation by recruitment of the ubiquitin‐proteasome system. In this (...) article we assess how this discovery alters our view of the way in which antibodies neutralise viral infection. We also consider the antiviral function of TRIM21 in the context of its other reported roles in immune signalling and autoimmunity. Finally, we discuss the conceptual implications of intracellular antibody immunity and how it alters our view of the discrete separation of extracellular and intracellular environments. (shrink)

It has been well documented how language-specific cues may be used for word segmentation. Here, we investigate what role a language-independent phonological universal, the sonority sequencing principle (SSP), may also play. Participants were presented with an unsegmented speech stream with non-English word onsets that juxtaposed adherence to the SSP with transitional probabilities. Participants favored using the SSP in assessing word-hood, suggesting that the SSP represents a potentially powerful cue for word segmentation. To ensure the SSP influenced the segmentation process (i.e., (...) during learning), we presented two additional groups of participants with either (a) no exposure to the stimuli prior to testing or (b) the same stimuli with pauses marking word breaks. The SSP did not influence test performance in either case, suggesting that the SSP is important for word segmentation during the learning process itself. Moreover, the fact that SSP-independent segmentation of the stimulus occurred (in the latter control condition) suggests that universals are best understood as biases rather than immutable constraints on learning. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Narrative Symposium:Living Organ DonationLaura Altobelli, Sherri Bauman, Janice Flynn, Andy Heath, Joseph Jacobs, Tim Joos, Amy K. Lewensten, Donna L. Luebke, Sarah A. McDaniel, Donald Olenick, Laurie E Post, Vicky Young, Blake Adams, Anonymous One, Michael Sauls, Christine Wright, Shannon D. Wyatt, and Cara Yesawich• An Altruistic Living Donor’s Story• Surgery for the Soul• Kidney Donation Story• The Essence of Giving—A Transplant Story• Love—the Risk Worth Taking• My (...) Donation Journey• A Life For A Life: My Gift To My Dad• Lessons Learned: The Realities of Living Organ Donation• Sarah’s List Exchange Experience• Accelerated Living Donation• Liver Donor Nightmare• Adrift After Donation• Getting Our Child Off Dialysis• A Living Donor’s Journey• The Spare Kidney• Living Donors are People Too• The Gift of Life—Walking by Faith• Journey of an Altruistic, Non–designated Living DonorCopyright © 2012 The Johns Hopkins University Press... (shrink)

Cheating and rule violations in intercollegiate athletics continue to be relevant issues in many institutions of higher education because they reflect upon the integrity of the institutions in which they are housed, causing concern among many faculty members, administrators, and trustees. Although a great deal of research has documented the numerous rule violations in NCAA intercollegiate athletics, much of it has failed to combine sound theory with practical solutions. The purpose of this study was to examine the possible extensions of (...) the organizational justice framework to the problem of rule violations in intercollegiate athletics. In doing so, the current study examined (a) perceived areas of injustice among coaches at NCAA Division I institutions, (b) avenues by which coaches resolve these injustices, and (c) potential solutions for resolving injustices in an attempt to reduce NCAA violations. Six NCAA Division I basketball coaches from various parts of the country (four from men's teams and two from women's teams) were interviewed using a semi-structured format. Despite the NCAA's efforts to create parity, results showed that coaches perceived several areas of inequities in recruiting, including financial resources and academic standards. The interviewed coaches described several means that are currently used to resolve these inequities and offered recommendations for changes to reduce injustice in the future. (shrink)

I show that Frege's statement (In the Epilogue to his Grundgesetze der Arithmetic v. II) of a way to avoid Russell's paradox is defective, in that he presents two different methods as if they were one. One of these "ways out" is notably more plausible than the other, and is almost surely what Frege really intended. The well-known arguments of Lesniewski, Geach, and Quine that Frege's revision of his system is inadequate to avoid paradox are not affected by the ambiguity (...) of Frede's statement. But a rectnt argument by Linsky and Schumm (Analysis 82 (1971-72), 5-7), intended as a very simple derivation of a contradiction within Frege's revised system, is valid only for the less plausible of the two versions of Frege's way out, and thus is not an effective attack on the revision that Frege intended to make. (shrink)

A notion of factorizability for vector-valued measures on a quantum logic L enables us to pass from abstract logics to Hilbert space logics and thereby to construct tensor products. A claim by Kruszynski that, in effect, every orthogonally scattered measure is factorizable is shown to be false. Some criteria for factorizability are found.

Thomas I-Iurka has recently proposed a utilitarian theory which would effect a compromise between Average and Total utilitarianism, the better to deal with issues in population ethics. This Compromise theory would incorporate the principle that the value which an extra happy person contributes to a possible world is a decreasing function of the total population of that world: that happy people are of diminishing marginal value. In spite of its initial plausibility I argue against this principle. I show that the (...) Compromise theory is actually no improvement over the two original versions of utilitaiianism; in particular, it is subject to almost all the objections which are fatal to Average utilitarianism, and more besides. And I attempt to dispell the appearance that intuition supports the Compromise theory as against Total utilitarianism, by arguing that the 1atter’s "Repugnant Conclusion," when properly understood, is not intuitively unacceptable. Total utilitarianism remains a plausible ethical theory, while both the Average and the Compromise theories should be definitely rejected. (shrink)