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)

Rare copy number variants have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for schizophrenia is conferred by large CNVs at several loci, including microdeletions at 1q21.1, 3q29, 15q13.3 and 22q11.2 and microduplication at 16p11.2. However, these CNVs collectively account for a small fraction of cases, and the relevant genes and neurobiological mechanisms are not well understood. Here we performed a large two-stage genome-wide scan of rare CNVs and report the significant association of copy (...) number gains at chromosome 7q36.3 with schizophrenia. Microduplications with variable breakpoints occurred within a 362-kilobase region and were detected in 29 of 8,290 patients versus 2 of 7,431 controls in the combined sample. All duplications overlapped or were located within 89 kilobases upstream of the vasoactive intestinal peptide receptor gene VIPR2. VIPR2 transcription and cyclic-AMP signalling were significantly increased in cultured lymphocytes from patients with microduplications of 7q36.3. These findings implicate altered vasoactive intestinal peptide signalling in the pathogenesis of schizophrenia and indicate the VPAC2 receptor as a potential target for the development of new antipsychotic drugs. © 2011 Macmillan Publishers Limited. All rights reserved. (shrink)

Theories of Early Childhood Education provides a comprehensive introduction to the various theoretical perspectives influential in early childhood education, from developmental psychology to critical studies, Piaget to Freire. Expert chapter authors examine assumptions underpinning the use of theory in the early years and concisely explore the implications of these questions for policy and practice. Every chapter includes applications to practice that will assist students and professionals in seeing the relevance of the theoretical perspective for their teaching.

Education in the responsible conduct of research (RCR) in the United States has evolved over the past decade from targeting trainees to including educational efforts aimed at faculty and staff. In addition RCR education has become more focused as federal agencies have moved to recommend specific content and to mandate education in certain areas. RCR education has therefore become a research-compliance issue necessitating the development of policies and the commitment of resources to develop or expand systems for educating faculty and (...) staff and for assuring compliance. These changes implied the need to develop a program evaluation model that could be applied to institutional RCR education programs, which were expected to differ from traditional academic credit-bearing courses targeting trainees. Information gleaned from the examination of corporate compliance models was analyzed in order to create a program evaluation module that could be used to document and assess educational programs focused on teaching RCR. A programmed series of questions for each of the nine RCR content areas identified by the United States Office of Research Integrity was created based on a performance-monitoring evaluation model. The questions focus on educational goals, resources provided to support the educational efforts, educational content, content delivery, educational outcomes, compliance requirements and feedback. Answers collected in response to the questions could be used to both document and continually improve the quality of RCR educational programs through on-going formative assessment and feedback. (shrink)

Foucault's notion of ?regimes of truth? (MacNaughton 2005, 30) provides an understanding of how some discourses operate and network together to reinforce a particular powerful view of the world. These can be in oral or written forms. Early childhood education practices are drawn on the discourse of a document developed by the National Association for the Education of Young Children (NAEYC) on developmentally appropriate practice. Statements made in this written discourse have been accepted as factual and produce shared language among (...) early childhood researchers. Foucault's perspectives of discourse and terms used by him as regimes of truth are used in this article to evaluate the written document that early childhood educators have accepted as authoritative truth. Suggestions for practice include providing a discourse that calls for early childhood teachers to allow time for reflective dialogue and the recognition of multiple perspectives to inform pedagogical knowledge of the social and cultural contexts of the children they teach. (shrink)

Given that university faculty members and supervisors practicing in the community have been involved in at least one research supervisor-graduate student relationship, it is surprising that so little attention has been paid to the ethical issues involved in such relationships. Indeed, as a student and her or his graduate research supervisor may be involved in a close working relationship for many years, it is understandable that several opportunities can arise that could be considered dual or multiple relationships. Examples of such (...) relationship issues discussed in this article include authorship matters, favoritism or inequitable treatment of students, and sexual relationships. Depending on the nature of the relationship, the impact on students can be quite severe; although, the effects on students have not been adequately studied. Existing ethical guidelines do not provide enough guidance in this area where students are in a position of diminished power with respect to the supervisor. Following the discussion of relationship issues, we suggest extensions of current guidelines to deal with these issues. (shrink)

Professor Copi provides us with the following example:Remove all cards except aces and kings from a deck, so that only eight cards remain, of which four are aces and four are kings. From this abbreviated deck, deal two cards to a friend. If he looks at his cards and announces that his hand contains an ace, what is the probability that both his cards are aces? If he announces instead that one of his cards is the ace of spades, what (...) is the probability then that both his cards are aces? (shrink)

A distressing number of philosophers and classicists think that the deuteros plous or “second best” mentioned at Phaedo 99c9-dl is the hypothetical method. Many of them will even tell you that Plato says the hypothetical method is the deuteros plous, and that they are not merely interpreting his meaning. They usually back off, however, when challenged on this point, for there jus isn’t any such statement by Plato. Nor, I think, does Plato give us any justification at all for taking (...) the deuteros plous as the hypothetical method. I will argue in this paper that he is referring rather to the explanation of things in terms of their formal causes, and that this sort of explanation is “second best” when compared to a teleological explanation in terms of final causes. The hypothetical method of the dialectician is simply the logical device or apparatus by means of which the theory of ideas and the attendant notion of formal causation are introduced into the discussion; it is not a “second best” method and is not inferior to anything else. (shrink)

This paper suggests that the appearance of circularity in descartes' arguments is due to a lack of precision in his statements of them, Rather than to any flaw in his reasoning. The clear and distinct perceptions presupposed in the demonstrations of the existence of God are not the same as those whose reliability depends upon the existence of god. He is presupposing the reliability only of those clear and distinct perceptions which are known through the light of nature and have (...) metaphysical certainty in that they cannot be imagined false even on the demon hypothesis. And the only clear and distinct perceptions whose reliability he is demonstrating are those which are not known through the light of nature with metaphysical certainty but are subject to metaphysical doubt on the demon hypothesis, Even though they have moral or psychological certainty. (shrink)

This paper examines socrates' method for determining whether virtue is taught, And discusses some of the opposing interpretations that have been offered (e.G., By robinson and hackforth). Some major conclusions are: that hypotheses that have been deduced from other hypotheses can still be called hypotheses; that it is false that there can be only one hypothesis per argument; and that the several hypotheses in a given argument need not all be hypothesized with the same degree of confidence.

The "divided line" passage seems to compare the four states of the soul and their objects to the four segments of a line, somewhat as follows.

Gordion, the principal city of Phrygia, was an important center for the worship of the major Phrygian divinity, the Great Mother of Anatolia, the Greek and Roman Cybele. Considerable evidence for the goddess's prominence there have come to light through excavations conducted at the site, first by Gustav and Alfred Körte and more recently by the continuing expedition sponsored by the University Museum in Philadelphia. These include sculptural representations of the goddess and numerous votive objects dedicated to her. The material (...) pertinent to the goddess and her cult in Gordion during the most prominent period of Phrygian culture, the eighth and seventh centuries BC, is similar to that from other contemporary Phrygian centers. Even after the loss of Phrygian political independence in the seventh century, the cult of the goddess in Anatolia continued to flourish, and the older traditions of iconography and votive types were maintained. During the Hellenistic period, however, we see a different version of the goddess at Gordion. The earlier Phrygian forms of cult image and votive were gone, and in their stead are figurines and votive objects which are clearly of Greek inspiration. The Mother goddess was still at home in Gordion—several stone and terracotta representations of her from this period attest to that—but her visual image had become thoroughly Hellenized. (shrink)

Although the therapeutic misconception (TM) has been well described over a period of approximately 20 years, there has been disagreement about its implications for informed consent to research. In this paper we review some of the history and debate over the ethical implications of TM but also bring a new perspective to those debates. Drawing upon our experience of working in the context of translational research for rare childhood diseases such as Duchenne muscular dystrophy, we consider the ethical and legal (...) implications of the TM for parental consent to research. In this situation, it is potentially the parent who is vulnerable to TM. In our analysis we not only consider the context of informed consent for research but also the wider environment in which the value of research is promoted, more broadly through the media but also more specifically through the communication strategies of patient organizations. All dissemination about developments in research for health runs the risk of portraying an overly optimistic view of the promise of biotechnological solutions and has the potential to encourage a ‘collective’ TM. In this paper we consider the challenge that TM presents to parents as well as explore the ethical and legal responsibilities of researchers to ensure an appropriately informed consent: compatible with a hopeful disposition of parents who consent for the their children whilst avoiding a blind and misleading optimism. (shrink)

The association of celebrity worship with mental health concerns has been extensively studied in the past two decades. However, there is a lack of research on basic demographic characteristics that can potentially alter the link between celebrity admiration and different aspects of mental health. The present study investigates the possible moderating role of gender, age, and opposite/same-gender celebrity selection on the association of celebrity worship with general well-being, self-esteem and perceived daytime sleepiness. A total of 1763 Hungarian adults completed an (...) online survey focusing on attitudes and behaviors relating to celebrities and mental well-being. The moderation analysis showed that the negative association between celebrity worship and self-esteem was slightly stronger for women than for men, and the association between celebrity worship and perceived daytime sleepiness was slightly stronger for younger individuals than for older ones. Although both gender and age were particularly weak moderators, these results draw the attention to some potential individual differences when interpreting links between celebrity worship and different aspects of mental health. (shrink)

A pattern of research findings indicates that excessive devotion to a favorite celebrity is linked to attitudes and behaviors that are psychologically unhealthy and may predict low life satisfaction. This study examines whether four common measures of life satisfaction predict admiration for celebrities in two university samples and one community sample of young adults. Our results showed significant correlations between celebrity admiration and two measures of life satisfaction. We also found that the predictors of life satisfaction correlate with each other (...) in ways that are consistent with previous research in positive psychology. Our research suggests an inverse relationship between celebrity admiration and life satisfaction. In addition, the results contribute to establishing the validity of four contemporary life satisfaction measures. (shrink)

As interest in working memory is increasing at a rapid pace, an open discussion of the central issues involved is both useful and timely. This new volume compares and contrasts conceptions of working memory, with contributions from proponents of different views.

What happens during a near-death experience? In an accessible style, this text reviews recent research about unbelievable events, creating an account of activity at the boundaries of science. It also examines research concerns, current theories, methodological issues and clinical implications.

Nurses are encountering an increasing number of ethical dilemmas in clinical practice. Ethics courses for baccalaureate nursing students provide the opportunity for the development of critical thinking skills in order to deal with these effectively. The purpose of this descriptive qualitative study was to describe ethical reasoning in 70 baccalaureate nursing students enrolled in a nursing ethics course. Reflective clinical journals were analyzed as appropriate for qualitative inquiry. The overriding theme emerging from the data was `in the process of becoming', (...) which includes: practicing as a professional, lacking the confidence as a student nurse to take an ethical stand, advocating for patients, being just in the provision of care, identifying the spiritual dimensions of nursing practice, confronting the `real world' of health care, making a commitment to practice with integrity, and caring enough to care. The development of critical thinking and ethical reasoning within the framework of knowing and connecting is essential in nursing education. (shrink)