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)

“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)

St. Augustine of Hippo wrote the ’De Trinitate’ to explain to critics of the Nicene Creed how the Christian doctrine of the divinity and coequality of Father, Son, and Holy Spirit is present in Scripture. He also wanted to convince philosophers that Christ is the Wisdom they sought. Augustine’s third purpose was to correlate the biblical truth that all human persons are created to image God, a Trinity, a communion of love, with the first two Commandments of the Old and (...) New Testaments. Augustine succeeded in showing the need for combining faith and reason for a greater understanding of Scripture as well as for a greater understanding of the true nature and destiny of human persons. Augustine emphasized the scriptural revelation of God as Father, Son, and Holy Spirit, and used reason to convince philosophers that the one and three-Personed God is philosophically and logically defensible. He concluded that the likeness of human persons to Christ and to the Trinity is accomplished not onl. (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)

The Hebrew Scriptures reveal that for the Hebrews the physical body was fundamental. In thinking of human existence they did not isolate mental processes from sense reactions and bodily feelings. The word "heart" was often used instead of a personal pronoun. In Judges 19, "Comfort thy heart with a morsel of bread" means "Give yourself comfort." In Exodus 33:14, "My face will go with thee," means "I will go with thee." The word ruah, or spirit, denoting breath or wind, referred (...) to anyone who by physical energy and mental alertness was full of life. In many cases the word "heart" was used to bring together the feelings, motives, intentions, and other aspects of an individual as a whole. The word "heart" referred to psychic activity, not merely to a physical organ. (shrink)

Historically, treatment for pain relief has varied according to the social status of the sufferer. A similar tendency to make arbitrary distinctions affecting pain relief was found in an ethnographic study of animal research laboratories. The administration of pain-relieving drugs for animals in laboratories differed from standard practice for humans and, perhaps, for companion animals. Although anesthesia was used routinely for surgical procedures, its administration was sometimes haphazard. Analgesics, however, were rarely used. Most researchers had never thought about using analgesics (...) and did not consider the subject worthy of serious attention. Scientists interviewed for this study agreed readily that animals are capable offeeling pain, but such assertions were muted by an overriding view of lab animals as creatures existing solely for the purposes of research. As a result, it was the exceptional scientist who was able to focus on anything about the animal's subjective experience that might lie outside the boundaries of the research protocol. (shrink)

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.

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)

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)