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)

“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)

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.

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.

Farrell, Marie T Review(s) of: How to read a graveyard: Journeys in the company of the dead, by Peter Stanford (London: Bloomsbury, 2013), pp.263, $32.95.

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)

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)

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)

Karl-Heinz Narjes, Scientific Commissioner for the European Economic Community, revealed how profoundly views of embryo research differ when he stated, "We cannot have a situation in which the same research might lead to a Nobel Prize in some member states... and to prison in others." Through 19 essays contained in this volume, the editors seek "to scrutinize the scientific, ethical, public policy, and legal issues which must be addressed wherever the new technology exists".

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.