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)

Next SectionIn an online study conducted separately in the UK and the US, participants rated the acceptability and fairness of four interventions: two types of financial incentives and two types of medical interventions. These were stated to be equally effective in improving outcomes in five contexts: weight loss and smoking cessation programmes, and adherence in treatment programmes for drug addiction, serious mental illness and physiotherapy after surgery. Financial incentives were judged less acceptable and to be less fair than medical interventions (...) across all five contexts. Context moderated the relative preference between rewards and penalties: participants from both countries favoured rewards over penalties in weight loss and treatment for serious mental illness. Only among US participants was this relative preference moderated by perceived responsibility of the target group. Overall, participants supported funding more strongly for interventions when they judged members of the target group to be less responsible for their condition, and vice versa. These results reveal a striking similarity in negative attitudes towards the use of financial incentives, rewards as well as penalties, in improving outcomes across a range of contexts, in the UK and the USA. The basis for such negative attitudes awaits further study. (shrink)

The focus of this study was to analyze the content, distribution, and comparative genome relationships of 996 chromosome bin-mapped expressed sequence tags accounting for 2266 restriction fragments on the homoeologous group 3 chromosomes of hexaploid wheat. Of these loci, 634, 884, and 748 were mapped on chromosomes 3A, 3B, and 3D, respectively. The individual chromosome bin maps revealed bins with a high density of mapped ESTs in the distal region and bins of low density in the proximal region of the (...) chromosome arms, with the exception of 3DS and 3DL. These distributions were more localized on the higher-resolution group 3 consensus map with intermediate regions of high-mapped-EST density on both chromosome arms. Gene ontology classification of mapped ESTs was not significantly different for homoeologous group 3 chromosomes compared to the other groups. A combined analysis of the individual bin maps using 537 of the mapped ESTs revealed rearrangements between the group 3 chromosomes. Approximately 232 of the consensus mapped ESTs matched sequences on rice chromosome 1 and revealed large- and small-scale differences in gene order. Of the group 3 mapped EST unigenes ∼21 and 32% matched the Arabidopsis coding regions and proteins, respectively, but no chromosome-level gene order conservation was detected. (shrink)

This volume explores how Catholicism began and continues to open its doors to the wider world and to other confessions in embracing ecumenism, thanks to the vision and legacy of the Second Vatican Council. It explores such themes as the twentieth century context preceding the council; parallels between Vatican II and previous councils; its distinctively pastoral character; the legacy of the council in relation to issues such as church-world dynamics, as well as to ethics, social justice, economic activity. Several chapters (...) discuss the role of women in the church before, during, and since the council. Others discern inculturation in relation to Vatican II. The book also contains a wide and original range of ecumenical considerations of the council, including by and in relation to Free Church, Reformed, Orthodox, and Anglican perspectives. Finally, it considers the Council’s ongoing promise and remaining challenges with regard to ecumenical issues, including a groundbreaking essay on the future of ecumenical dialogue by Cardinal Walter Kasper. (shrink)

This report describes the rationale, approaches, organization, and resource development leading to a large-scale deletion bin map of the hexaploid wheat genome. Accompanying reports in this issue detail results from chromosome bin-mapping of expressed sequence tags representing genes onto the seven homoeologous chromosome groups and a global analysis of the entire mapped wheat EST data set. Among the resources developed were the first extensive public wheat EST collection. Described are protocols for sequencing, sequence processing, EST nomenclature, and the assembly of (...) ESTs into contigs. These contigs plus singletons were used for selection of distinct sequence motif unigenes. Selected ESTs were rearrayed, validated by 5′ and 3′ sequencing, and amplified for probing a series of wheat aneuploid and deletion stocks. Images and data for all Southern hybridizations were deposited in databases and were used by the coordinators for each of the seven homoeologous chromosome groups to validate the mapping results. Results from this project have established the foundation for future developments in wheat genomics. (shrink)

This chapter describes the potential far‐reaching consequences of contemplative higher education for the fields of science and medicine.

In recent years, we have seen a new concern with ethics training for research and development professionals. Although ethics training has become more common, the effectiveness of the training being provided is open to question. In the present effort, a new ethics training course was developed that stresses the importance of the strategies people apply to make sense of ethical problems. The effectiveness of this training was assessed in a sample of 59 doctoral students working in the biological and social (...) sciences using a pre–post design with follow-up and a series of ethical decision-making measures serving as the outcome variable. Results showed not only that this training led to sizable gains in ethical decision making but also that these gains were maintained over time. The implications of these findings for ethics training in the sciences are discussed. (shrink)

This paper is one of the four interrelated action agenda papers resulting from the National Summit on Public Health Legal Preparedness convened in June 2007 by the Centers for Disease Control and Prevention and multi-disciplinary partners. Each of the action agenda papers deals with one of the four core elements of public health legal preparedness: laws and legal authorities; competency in using those laws; coordination of law-based public health actions; and information. Options presented in this paper are for consideration by (...) policy makers and practitioners — in all jurisdictions and all relevant sectors and disciplines — with responsibilities for all-hazards emergency preparedness.Advancing and protecting the public's health depends upon the coordination of actions by many, diverse partners. For effective public health preparedness, there must be effective coordination of legal tools and law-based strategies across local, state, tribal, and federal jurisdictions, and also across sectors such as public health, health care, emergency management, education, law enforcement, community design, and academia. (shrink)

This paper is one of the four interrelated action agenda papers resulting from the National Summit on Public Health Legal Preparedness convened in June 2007 by the Centers for Disease Control and Prevention and multi-disciplinary partners. Each of the action agenda papers deals with one of the four core elements of public health legal preparedness: laws and legal authorities; competency in using those laws; coordination of law-based public health actions; and information. Options presented in this paper are for consideration by (...) policy makers and practitioners — in all jurisdictions and all relevant sectors and disciplines — with responsibilities for all-hazards emergency preparedness.Advancing and protecting the public's health depends upon the coordination of actions by many, diverse partners. For effective public health preparedness, there must be effective coordination of legal tools and law-based strategies across local, state, tribal, and federal jurisdictions, and also across sectors such as public health, health care, emergency management, education, law enforcement, community design, and academia. (shrink)

1 Evidence-based policy requires researchers to provide the answers to ecological questions that are of interest to policy makers. To find out what those questions are in the UK, representatives from 28 organizations involved in policy, together with scientists from 10 academic institutions, were asked to generate a list of questions from their organizations. 2 During a 2-day workshop the initial list of 1003 questions generated from consulting at least 654 policy makers and academics was used as a basis for (...) generating a short list of 100 questions of significant policy relevance. Short-listing was decided on the basis of the preferences of the representatives from the policy-led organizations. 3 The areas covered included most major issues of environmental concern in the UK, including agriculture, marine fisheries, climate change, ecosystem function and land management. 4 The most striking outcome was the preference for general questions rather than narrow ones. The reason is that policy is driven by broad issues rather than specific ones. In contrast, scientists are frequently best equipped to answer specific questions. This means that it may be necessary to extract the underpinning specific question before researchers can proceed. 5 Synthesis and applications. Greater communication between policy makers and scientists is required in order to ensure that applied ecologists are dealing with issues in a way that can feed into policy. It is particularly important that applied ecologists emphasize the generic value of their work wherever possible. (shrink)

Public health agencies regularly survey randomly selected anonymous students to track drug use, sexual activities, and other risk behaviors. Students are unidentifiable, but a recent project that i...

At the forefront of international concerns about global legislation and regulation, a host of noted environmentalists and business ethicists examine ethical issues in consumption from the points of view of environmental sustainability, economic development, and free enterprise.

Volume 20, Issue 10, October 2020, Page W4-W7.

This paper is one of the four interrelated action agenda papers resulting from the National Summit on Public Health Legal Preparedness convened in June 2007 by the Centers for Disease Control and Prevention and multi-disciplinary partners. Each of the action agenda papers deals with one of the four core elements of legal preparedness: laws and legal authorities; competency in using those laws; coordination of law-based public health actions; and information. Options presented in this paper are for consideration by policymakers and (...) practitioners — in all jurisdictions and all relevant sectors and disciplines — with responsibilities for all-hazards emergency preparedness.One expert's framing of the mission of public health may help improve understanding of the range of hazards for which to be legally prepared. These hazards include urgent realities — such as chronic disease, injury, disabilities, conventional communicable diseases, and an aging and obese population — and urgent threats, such as pandemic influenza, natural disasters, and terrorism. (shrink)

This paper is one of the four interrelated action agenda papers resulting from the National Summit on Public Health Legal Preparedness convened in June 2007 by the Centers for Disease Control and Prevention and multi-disciplinary partners. Each of the action agenda papers deals with one of the four core elements of legal preparedness: laws and legal authorities; competency in using those laws; coordination of law-based public health actions; and information. Options presented in this paper are for consideration by policymakers and (...) practitioners — in all jurisdictions and all relevant sectors and disciplines — with responsibilities for all-hazards emergency preparedness.One expert's framing of the mission of public health may help improve understanding of the range of hazards for which to be legally prepared. These hazards include urgent realities — such as chronic disease, injury, disabilities, conventional communicable diseases, and an aging and obese population — and urgent threats, such as pandemic influenza, natural disasters, and terrorism. (shrink)

Kant's philosophy of arithmetic / by Charles Parsons -- Visual geometry / by James Hopkins -- The proof-structure of Kant's transcendental deduction / by Dieter Henrich -- Imagination and perception / by P.F. Strawson -- Kant's categories and their schematism / by Lauchlan Chipman -- Transcendental arguments / by Barry Stroud -- Strawson on transcendental idealism / by H.E. Matthews -- Self-knowledge / by W.H. Walsh -- The age and size of the world / by Jonathan Bennett.

Throughout the biological and biomedical sciences there is a growing need for, prescriptive ‘minimum information’ (MI) checklists specifying the key information to include when reporting experimental results are beginning to find favor with experimentalists, analysts, publishers and funders alike. Such checklists aim to ensure that methods, data, analyses and results are described to a level sufficient to support the unambiguous interpretation, sophisticated search, reanalysis and experimental corroboration and reuse of data sets, facilitating the extraction of maximum value from data sets (...) them. However, such ‘minimum information’ MI checklists are usually developed independently by groups working within representatives of particular biologically- or technologically-delineated domains. Consequently, an overview of the full range of checklists can be difficult to establish without intensive searching, and even tracking thetheir individual evolution of single checklists may be a non-trivial exercise. Checklists are also inevitably partially redundant when measured one against another, and where they overlap is far from straightforward. Furthermore, conflicts in scope and arbitrary decisions on wording and sub-structuring make integration difficult. This presents inhibit their use in combination. Overall, these issues present significant difficulties for the users of checklists, especially those in areas such as systems biology, who routinely combine information from multiple biological domains and technology platforms. To address all of the above, we present MIBBI (Minimum Information for Biological and Biomedical Investigations); a web-based communal resource for such checklists, designed to act as a ‘one-stop shop’ for those exploring the range of extant checklist projects, and to foster collaborative, integrative development and ultimately promote gradual integration of checklists. (shrink)

Just Ecological Integrity presents a collection of revised and expanded essays originating from the international conference "Connecting Environmental Ethics, Ecological Integrity, and Health in the New Millennium" held in San Jose, Costa Rica in June 2000. It is a cooperative venture of the Global Ecological Integrity Project and the Earth Charter Initiative.

We present a one per cent measurement of the cosmic distance scale from the detections of the baryon acoustic oscillations in the clustering of galaxies from the Baryon Oscillation Spectroscopic Survey, which is part of the Sloan Digital Sky Survey III. Our results come from the Data Release 11 sample, containing nearly one million galaxies and covering approximately 8500 square degrees and the redshift range 0.2 < z < 0.7. We also compare these results with those from the publicly released (...) DR9 and DR10 samples. Assuming a concordance Λ cold dark matter cosmological model, the DR11 sample covers a volume of 13 Gpc3 and is the largest region of the Universe ever surveyed at this density. We measure the correlation function and power spectrum, including density-field reconstruction of the BAO feature. The acoustic features are detected at a significance of over 7σ in both the correlation function and power spectrum. Fitting for the position of the acoustic features measures the distance relative to the sound horizon at the drag epoch, rd, which has a value of rd,fid = 149.28 Mpc in our fiducial cosmology. We find DV = at z = 0.32 and DV = at z = 0.57. At 1.0 per cent, this latter measure is the most precise distance constraint ever obtained from a galaxy survey. Separating the clustering along and transverse to the line of sight yields measurements at z = 0.57 of DA = and H =. Our measurements of the distance scale are in good agreement with previous BAO measurements and with the predictions from cosmic microwave background data for a spatially flat CDM model with a cosmological constant. © 2014 The Author Published by Oxford University Press on behalf of the Royal Astronomical Society. (shrink)

Objectives: There are indications that institutional review board members do not find it easy to assess the risks and benefits in medical experiments, although this is their principal duty. This study examined how IRB members assessed the risk/benefit ratio of a specific phase II breast cancer clinical trial.Participants and methods: The trial was evaluated by means of a questionnaire administered to 43 members of IRBs at six academic hospitals and specialised cancer centres in the Netherlands. The questionnaire addressed: identification and (...) estimation of inconvenience, toxicity, psychosocial distress, and benefits of trial participation to patients; identification and estimation of benefits to future patients and medical science; assessment of the trial’s RBR; and assessment of its ethical acceptability.Results: Most IRB members expected trial participation to involve fairly or very serious inconvenience, fairly severe to sometimes life-threatening toxicity, and serious psychological and social consequences. Conversely, the perceived likelihood of benefits to patients was modest. Most regarded the study as important, and the balance between risks and benefits to be favourable, and believed that the protocol should be approved. The IRB members’ final judgement on the trial’s ethical acceptability was significantly correlated with their RBR assessment of the protocol.Conclusions: Because most patients who participate in clinical trials hope this will prolong their lives, it is suggested that patient information should better describe the anticipated benefits—for example, the likelihood of prolonging life. This would allow patients to make decisions regarding participation based on realistic expectations. (shrink)

Funke has taken upon himself the task of refining and answering the question "What is philosophy?" His answer results in the proof that all philosophy in order to be philosophy must not neglect the question as to the transcendental determination and form of its own consciousness. As such, philosophy is, according to Funke, neither merely stating facts nor describing qualities. Rather philosophy wants to know why something is the way it is, that is, why something occurs as a phenomenon in (...) exactly the way it does and not otherwise. Consequently, philosophy is a critical transcendental phenomenology that has to understand the object regressively as the correlate of a subjective achievement. Being a universal transcendental philosophy, pure phenomenology has the task of not merely seeking for the constitutive conditions of the phenomena in their peculiarity but also that of proving the validity of its own undertaking. Phenomenology as reflective consciousness has to turn back to the conditions of its own possibility. This demand leads back to an iterative regress in which each proposition about transcendentals must be justified transcendentally. The chapter on "The Reflective Consciousness and the Iterating Regress of the Conditions of Possibility" exhibits this problem while the chapter on "The Topical Consciousness and the Utopical Regress to the Ultimate Experiences of the Life-World" provides an answer and demonstrates why the phenomenological regress of reflection can and must never be completed. Interpreting Husserl, Funke explains that the transcendental reduction in Husserl does not lead back to an ego, a transcendental subjectivity as intersubjectivity, as generally assumed. Rather, as Funke attempts to prove, the state of awareness of subjectivity and the context of meaning of objectivity belong to one another correlatively and universally. According to Funke, phenomenology is essentially the method which in critical reflection makes reason advance further in its process of self-enlightenment. This book is written in an interesting and lively way and Funke does not fail to anticipate and address possible critical objections to his own position. At the same time he involves himself in an apologetic discussion with the philosophical literature on this issue.—H. E. M. H. (shrink)

The authors of this book engage in essay form in a lively debate over the fundamental characteristics of legal and moral rights. They examine whether rights fundamentally protect individuals' interests or whether they instead fundamentally enable individuals to make choices. In the course of this debate the authors address many questions through which they clarify, though not finally resolve, a number of controversial present-day political debates, including those over abortion, euthanasia, and animal rights.

Science communication via testimony requires a certain level of trust. But in the context of ideologically-entangled scientific issues, trust is in short supply—particularly when the issues are politically ‘entangled’. In such cases, cultural values are better predictors than scientific literacy for whether agents trust the publicly-directed claims of the scientific community. In this paper, we argue that a common way of thinking about scientific literacy—as knowledge of particular scientific facts or concepts—ought to give way to a second-order understanding of science (...) as a process as a more important notion for the public’s trust of science. (shrink)