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)

A limiting factor in ethics education in medical training has been difficulty in assessing competence in ethics. This study was conducted to test the concept that content analysis of pediatric residents’ personal reflections about ethics experiences can identify changes in ethical sensitivity and reasoning over time. Analysis of written narratives focused on two of our ethics curriculum’s goals: 1) To raise sensitivity to ethical issues in everyday clinical practice and 2) to enhance critical reflection on personal and professional values as (...) they affect patient care. Content analysis of written reflections was guided by a tool developed to identify and assess the level of ethical reasoning in eight domains determined to be important aspects of ethical competence. Based on the assessment of narratives written at two times (12 to 16 months/apart) during their training, residents showed significant progress in two specific domains: use of professional values, and use of personal values. Residents did not show decline in ethical reasoning in any domain. This study demonstrates that content analysis of personal narratives may provide a useful method for assessment of developing ethical sensitivity and reasoning. (shrink)

“Smallpox was always present, filling the churchyard with corpses, tormenting with constant fear all whom it had not yet stricken, leaving on those whose lives it spared the hideous traces of its power, turning the babe into a changeling at which the mother shuddered, and making the eyes and cheeks of the betrothed maiden objects of horror to the lover.” In 1848, British historian T.B. Macaulay first captured the picture of the devastation smallpox wreaked on its victims, but the “King (...) of Terrors,” as it was dubbed by future president John Adams, had already decimated populations in the ancient world from Greece to Egypt to China. Smallpox had no respect for authority: the earliest identified victim, Pharaoh Ramses V was but the first in a long line of monarchs and rulers who succumbed,. including the Hittite king Suppiluliumas I, Aztec Emperor Cuitlahuac, and Queen Mary II of England. (shrink)

Ever since its nascent days, psychoanalysis has enjoyed an uneasy coexistence with religion. However, in recent decades, many analysts have been more interested in the healing potential of both psychoanalytic and religious experience and have explored how their respective narrative underpinnings may be remarkably similar. In _Toward Mutual Recognition_, Marie T. Hoffman takes just such an approach. Coming from a Christian perspective, she suggests that the current relational turn in psychoanalysis has been influenced by numerous theorists - analysts and (...) philosophers alike - who were themselves shaped by an embedded Christian narrative. As a result, the redemptive concepts of incarnation, crucifixion, and resurrection - central to the tenets of Christianity - can be traced to relational theories, emerging analogously in the transformative process of mutual recognition in the concepts of identification, surrender, and gratitude, a trilogy which she develops as forming the "path of recognition." Each movement on this path of recognition is given thought-provoking, in-depth attention. Chapters dedicated to theoretical perspectives utilize the thinking of Benjamin, Hegel, and Ricoeur. In her historical perspectives, she explores the personal and professional histories of analysts such as Sullivan, Fairbairn, Winnicott, Erikson, Kohut, and Ferenczi, among others, who were influenced by the Christian narrative. Uniting it all together is the clinical perspective offered in the compelling extended case history of Mandy, a young lady whose treatment embodies and exemplifies each of the steps along the path of growth in both the psychoanalytic and Christian senses. Throughout, a relational sensibility is deployed as a cooperative counterpart to the Christian narrative, working both as a consilient dialogue and a vehicle for further integrative exploration. As a result, the specter of psychoanalysis and religion as mutually exclusive gives way to the hope and redemption offered by their mutual recognition. (shrink)

Farrell, Marie T Review(s) of: The first thing to do is live: Essays sacred and secular, by Adrian Lyons SJ (Melbourne: David Lovell Publishing, 2013), pp. 136, pb $27.95.

Evidence suggests that the nurse’s role as an advocate for patients and for the professional right to conscience is being eroded because of a lack of conscience protections in the Patient Affordable Care Act and because of a faulty understanding in general of the separation of church and state. While the main task of the principle of separation of church and state is to secure religious liberty, the principle is increasingly interpreted in a secularist way to mean that religion must (...) be confined to the home and church and that people of conscience may not object to immoral practices in the workplace or public square. If nurses must risk their jobs to advocate for their patients, patient care will suffer. National Catholic Bioethics Quarterly 14.1 : 47–52. (shrink)

The protein Po has long been proposed to be responsible for the compact nature of peripheral myelin through interactions of both its extracellular and cytoplasmic domains. Recent studies support such a role for Po's extracellular region while more precise mapping of its adhesive domains are ongoing. As Po is a member of the immunoglobulin gene superfamily and perhaps bears the closest similarity to the ancestral molecule of this whole family, these studies may also have more general implications for adhesive interactions. (...) In addition, although long believed to be purely an inert, structural molecule, Po has been reported to promote neurite outgrowth, which suggests a more dynamic role for this interesting molecule. (shrink)

Farrell, Marie T Review of: Jesus and the dreaming: Discovering an Australian spirituality through Aboriginal-Christian dialogue, by Frank Fletcher, MSC, ed. Fabian Byers, pp. 344, paperback $24.95.

This volume examines some of the most contentious social justice issues present in the corpus of Augustine's writings. Whether one is concerned with human trafficking and the contemporary slave trade, the global economy, or endless wars, these essays further the conversation on social justice as informed by the writings of Augustine of Hippo.

Today the connection between "person" and the "I" is acknowledged in many respects but not always analyzed. The need to relate it to the reality of the human being has sparked the present investigation of the philosophical anthropology of four thinkers from the late ancient, medieval, and contemporary periods. Although it may seem that the question of the role of the "I" with respect to the human being hinges on the larger problem of objectivity v. subjectivity, this does not seem (...) to be the case. Many topics, however, are necessarily entailed in this investigation such as individuality and universality, soul and body, consciousness and action, substance and history, the self and the other, the metaphysical and the phenomenological, and experience and the ethical. At the end of this study we arrive at more than a grammatical use of the "I." From reflection on the contributions of Plotinus, Augustine, Aquinas, and Wojtyla, the ontological role of the "I" is identified. In doing so, one realizes that the ontological does not forsake the concrete, but penetrates it more deeply. Indeed, that was what Plotinian philosophy claimed to be doing: recognizing the richness of human reality. (shrink)

Eddington, A. The decline of determinism.--Heisenberg, W. and others. Dialogue concerning science and philosophical positions.--Sinnott, E. Biology and freedom.--Nuttin, J. The unconscious and freedom.--Nagel, E. Determinism in history.--Ayer, A. J. Freedom and necessity.--Campbell, C. A. Philosophical defence of freedom.--Hare, R. M. Freedom and reason.--Dewey, J. Freedom as a problem.--Sartre, J.-P. Freedom and total responsibility.--Camus, A. Freedom and rebellion.--Rand, A. Freedom and individualism.--Thévenaz, P. Freedom and action.--Luijpen, W. A. Phenomenology of freedom.--Teilhard de Chardin, P. Cosmic freedom.--Jaspers, K. Freedom and society.--Macmurray, J. (...) Freedom in the personal nexus.--Brunner, A. Incarnation of freedom.--Ricoeur, P. Freedom as human creativity.--Finance, J. de. Freedom and existence.--Bibliography (p. 243-251). (shrink)

Electroencephalographic monitoring provides critical diagnostic and management information about patients with epilepsy and seizure mimics. Admission to an epilepsy monitoring unit (EMU) is the gold standard for such monitoring in major medical facilities worldwide. In many countries, access can be challenged by limited resources compared to need. Today, triaging admission to such units is generally approached by unwritten protocols that vary by institution. In the absence of explicit guidance, decisions can be ethically taxing and are easy to challenge. In an (...) effort to address this gap, we propose a two-component approach to EMU triage that takes into account the unique landscape of epilepsy monitoring informed by triage literature from other areas of medicine. Through the strategic component, we focus on the EMU wait list management infrastructure at the institutional level. Through the principled component, we apply a combination of the ethical principles of prioritarianism, utilitarianism and justice to triage; and we use individual case examples to illustrate how they apply. The effective implementation of this approach to specific epilepsy centres will need to be customised to the nuances of different settings, including diverse practice patterns, patient populations and constraints on resource distribution, but the conceptual consolidation of its components can alleviate some of the pressures imposed by the complex decisions involved in EMU triage. (shrink)

Polycentric leadership is a growing issue in the global missions movement. The focus of this article is to help readers understand polycentrism broadly and examine what it means for those seeking to lead fruitfully in God’s mission. Examples will be provided to illustrate what polycentric leadership can look like. Biblical and theological convictions that shape leaders who work out of this paradigm will be examined. The reality of tension points experienced by people who desire to lead from this paradigm will (...) be explored, as well as practical strategies and insights for those who have to navigate these tensions in their missional journeys. Through bringing together these different threads, the goal is for this article is to provide both academic insights and practical assistance for anyone who cares deeply about God’s work around the world and desires to lead fruitfully in a polycentric mission context. (shrink)