Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. We now report two associations at genome-wide significance identified and replicated at PRSS1-PRSS2 and X-linked CLDN2 through a two-stage genome-wide study. The PRSS1 variant likely affects disease susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk allele is (...) associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous CLDN2 genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men. © 2012 Nature America, Inc. All rights reserved. (shrink)

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)

“In the beginning there was hunger.” This opening quote from Levinas sets the stage for Pelluchon’s ethico-political project that revamps classical phenomenology’s intentionality of the ego by focusing on the sensing and enjoyment of the “gourmet cogito” who “lives from” and finds nourishment in a world that cannot be reduced to a noeme. She critiques Heidegger’s existential analytic and focuses on an ontology where our love of life precedes our being-towards-death, before boldly mapping out a new social pact, founded on (...) the structures of existence that her phenomenology of nourishment reveals. (shrink)

This chapter provides a historical account of the transformation of pregnancy through philosophical theory and legal practice. What has remained seemingly consistent across history, though, is the lack of rights a pregnant woman can enjoy. Whilst it may manifest differently across time and place, unfortunately misogynistic attitudes persist, and this is reflected in the continual degrading of the gestator (and gestation), which is reinforced by certain philosophical theorising and technological advancement. We thus urge caution in making philosophical claims about the (...) epistemic transformation in pregnancy, given the epistemic (and other) injustices already faced by pregnant people. We recognise that there are transformations that occur because of pregnancy, but we argue that there ought not be with respect to the pregnant person's autonomy, agency, and control over their bodies. Through an analysis of legal cases, we can see that the practice falls out of line with the theory regarding how pregnant people are treated. But perhaps it is both the theory and the practice that need to change so as to bring them in line. How we theorise about pregnancy is intertwined with our cultural views, our technological advancements, and our medical and legal practices, requiring multi-disciplinary study for a more holistic overview. In this chapter, we contribute to this endeavour by bringing some such strands together, regarding the transformation that pregnancy is, that pregnancy makes, and that pregnancy has had historically, in philosophy, and in legal practice. (shrink)

In this view from 2007–2009, the ethical challenges facing a potential global effort to control infectious disease are explored; they provide sobering insight into the challenges of later decades. Despite the devastating pandemic of HIV/AIDS that erupted in the early 1980s, despite the failure to eradicate polio and the emergence of resistant forms of tuberculosis that came into focus in the 1990s, and despite newly emerging diseases like Severe Acute Respiratory Syndrome (SARS) in 2003 and the fearsome prospect of human-to-human (...) avian flu, it is nevertheless a time of some excitement over prospects for effective control of much of infectious disease. Funded by national and international governmental and nongovernmental organizations (NGOs), private foundations, and even popular entertainers, large-scale new efforts are under way to address global killers like AIDS, tuberculosis, and malaria, among others. This “marvelous momentum” can be seen as part of a continuing effort from the time of Jenner onward. Extrapolating from this, we explore the notion of a “comprehensive global effort for the eradication, elimination or control of infectious disease”, with particular attention to the ethical issues that arise. This is to “think big” about disease-control efforts that are now often done in piecemeal ways. This chapter identifies five tracks along which such efforts need to be pursued: (1) national and international organizations and the development of collective will; (2) epidemiological and health care infrastructure; (3) scientific development; (4) religious, social, and cultural considerations; (5) legal and social protections for individuals and groups. Each of these poses significant ethical issues which, we argue, should be viewed in a comprehensive way, to ensure that practice, research, and policy in each of these areas understands the person with communicable infectious disease as both victim and (potential) vector. (shrink)

The Neurological Disease Ontology (ND) is being developed to provide a comprehensive framework for the representation of neurological diseases (Diehl et al., 2013). ND utilizes the model established by the Ontology for General Medical Science (OGMS) for the representation of entities in medicine and disease (Scheuermann et al., 2009). The goal of ND is to include information for each disease concerning its molecular, genetic, and environmental origins, the processes involved in its etiology and realization, as well as its clinical presentation (...) including signs and symptoms. (shrink)

Researchers are developing a fertility preservation technique?testicular tissue cryopreservation (TTCP)?for prepubescent boys who may become infertile as a result of their cancer treatment. Although this technique is still in development, some researchers are calling for its widespread use. They argue that if boys do not bank their tissue now, they will be unable to benefit from any therapies that might be developed in the future. There are, however, risks involved with increasing access to an investigational procedure. This article examines four (...) methods of expanding access to TTCP: (1) expansion of institutional review board (IRB)-approved research trials; (2) offering TTCP as an innovative procedure in hospitals; (3) offering TTCP as a standard practice in hospitals; and (4) commercialization of TTCP. The ethical and practical implications of each are evaluated through a comparison with umbilical cord blood banking (UCBB), a technology that has achieved widespread use based on similar claims of future benefit. (shrink)

Surveys over the last twenty years have seen an ever-growing number of Americans disclaim religious affiliations and instead check the "none" box. In the first sociological exploration of organized secularism in America, Richard Cimino and Christopher Smith show how one segment of these "nones" have created a new, cohesive atheist identity through activism and the creation of communities. According to Cimino and Smith, the new upsurge of atheists is a reaction to the revival of religious fervor in American (...) politics since 1980. Feeling overlooked and underrepresented in the public sphere, atheists have employed a wide variety of strategies-some evangelical, some based on identity politics-to defend and assert themselves against their ideological opponents. These strategies include building and maintaining communities, despite the absence of the kinds of shared rituals, texts, and laws that help to sustain organized religions.Drawing on in-depth interviews with self-identified atheist, secularist, and humanist leaders and activists, as well as extensive observations and analysis of secular gatherings and media, Cimino and Smith illustrate how atheists organize and align themselves toward common goals, and how media-particularly web-based media-have proven invaluable in connecting atheists to one another and in creating a powerful virtual community. Cimino and Smith suggest that secularists rely not only on the Internet for community-building, but on their own new forms of ritual.This groundbreaking study will be essential reading for anyone seeking to understand the growing atheist movement in America. (shrink)

Physicians working in the world of competitive sports face unique ethical challenges, many of which center around conflicts of interest. Team-employed physicians have obligations to act in the club's best interest while caring for the individual athlete. As such, they must balance issues like protecting versus sharing health information, as well as issues regarding autonomous informed consent versus paternalistic decision making in determining whether an athlete may compete safely. Moreover, the physician has to deal with an athlete's decisions about performance (...) enhancement and return to play, pursuit of which may not be in the athlete's long-term best interests but may benefit the athlete and team in the short term. These difficult tasks are complicated by the lack of evidence-based standards in a field influenced by the lure of financial gains for multiple parties involved. In this article, we review ethical issues in sports medicine with specific attention paid to American professional football. (shrink)

The computational genomics community has come increasingly to rely on the methodology of creating annotations of scientific literature using terms from controlled structured vocabularies such as the Gene Ontology (GO). We here address the question of what such annotations signify and of how they are created by working biologists. Our goal is to promote a better understanding of how the results of experiments are captured in annotations in the hope that this will lead to better representations of biological reality through (...) both the annotation process and ontology development, and in more informed use of the GO resources by experimental scientists. (shrink)

Perceptual completion fills the gap for discrete perception to become continuous. Similarly, dynamic perceptual completion provides an experience of dynamic continuity. Our recent discovery of the ‘happening’ element of DPC completes the total experience for dynamism in the flow of time. However, a phenomenological explanation for these experiences is essential. The Snapshot Hypotheses especially the Dynamic Snapshot View provides the most comprehensive explanation. From that understanding the ‘two times’ problem can be addressed. The static time of spacetime cosmologies has been (...) irreconcilable with the dynamic FOT. Dismissing the FOT as an illusion is unsatisfactory. Therefore, we provide four hypotheses for the TTP.1) Since cosmological static time demands that all events are discrete, DPC elements for dynamism should likewise be expected to be discrete and accounted for by a snapshot phenomenology such as the DSV. 2) If temporality can be demonstrated to be similar to apparent motion by being a snapshot phenomenon and not demanding temporal extension it would confirm the DSV and permit reconciliation with static time. 3) If the ‘present moment’ is subjective as static time theories suggest, it should be possible experimentally for an observer to choose his own ‘present’ by moving to various points in the past with the aid of virtual reality. 4) If dynamism e.g. motion can be precluded without significant information loss or violating physics principles it is a cognitive add-on, thereby contradicting non-static time theories which suggest that time is ‘real.’ We confirm those hypotheses. (shrink)

"A CEVAM book." Bibliography: p. 259-265. Includes index.

The fusion of law and equity in common law systems was a crucial moment in the development of the modern law. In this volume leading scholars assess the significance of the fusion of law and equity from comparative, doctrinal, historical and theoretical perspectives.

This paper adopts a cognitive linguistic framework to explore the influence of spatial and social factors on the use of Spanish demonstratives esta ‘this’ and esa ‘that’. Twenty adult Spanish speakers in Monterrey, Mexico, were asked questions prompting the selection of puzzle pieces for placement in a 25-piece puzzle located in the shared space between the participant and an addressee. Although participants were not explicitly instructed to produce demonstratives, the need to identify specific puzzle pieces naturally elicited a total of (...) 523 tokens of esta and esa. Analyses of the distribution of esta versus esa show that demonstratives are not used in a categorical manner to mark differences in physical space. Although participants tended to produce proximal esta for referents near the speaker, both esta and esa were used for referents further from the speaker and closer to the addressee. Participants’ demonstrative selection was also influenced by interaction type: intersubjective misalignment between speakers promoted the use of proximal esta, whereas intersubjective alignment promoted the use of distal esa. These results support the view that nominal grounding is an intersubjective activity. Physical and social factors jointly shape speakers’ construal of the developing co-constructed communicative event as a whole, leading to increasingly variable usage of demonstratives as the referent is more distant both spatially and intersubjectively from the speaker. (shrink)

Cognitive Science, Volume 46, Issue 5, May 2022.

The present volume draws together original and significant essays from a number of leading authorities which identify areas of the modern criminal law where there are significant conceptual difficulties. The project developed from a series of seminars in Cambridge University, in which leading Anglo-American philosophers, criminal lawyers and legal theorists explored subjects such as attempts, intention, justification, excuses, coercion, complicity, drug-dealing and criminal harm.

We describe a set of two computer‐implemented models that solve physics problems in ways characteristic of more and less competent human solvers. The main features accounting for different competences are differences in strategy for selecting physics principles, and differences in the degree of automation in the process of applying a single principle. The models provide a good account of the order in which principles are applied by human solvers working problems in kinematics and dynamics. They also are sufficiently flexible to (...) allow easy extension to several related domains of physics problems. (shrink)

Achieving space domain awareness requires the identification, characterization, and tracking of space objects. Storing and leveraging associated space object data for purposes such as hostile threat assessment, object identification, and collision prediction and avoidance present further challenges. Space objects are characterized according to a variety of parameters including their identifiers, design specifications, components, subsystems, capabilities, vulnerabilities, origins, missions, orbital elements, patterns of life, processes, operational statuses, and associated persons, organizations, or nations. The Space Object Ontology provides a consensus-based realist framework (...) for formulating such characterizations in a computable fashion. Space object data are aligned with classes and relations in the Space Object Ontology and stored in a dynamically updated Resource Description Framework triple store, which can be queried to support space domain awareness and the needs of spacecraft operators. This paper presents the core of the Space Object Ontology, discusses its advantages over other approaches to space object classification, and demonstrates its ability to combine diverse sets of data from multiple sources within an expandable framework. Finally, we show how the ontology provides benefits for enhancing and maintaining longterm space domain awareness. (shrink)

Teacher education programs require effective development for mentors of preservice teachers to increase the likelihood student teaching is reliable and that it produces preferred outcomes. There ar...

Collaboration between the arts and health sectors is gaining momentum. Artists are contributing significantly to public health efforts such as vaccine confidence campaigns. Artists and the arts are well positioned to contribute to the social conditions needed to build trust in the health sector. Health professionals, organizations, and institutions should recognize not only the power that can be derived from the insights, artefacts, and expertise of artists and the arts to create the conditions that make trust possible. The health sector (...) must also recognize that, while it can gain much from partnership with artists, artists risk much—namely, the public's trust—when they are in such partnerships. This essay unpacks these claims and considers the care and ethical considerations that must be brought to these partnerships to yield constructive pathways for ethical collaboration as well as for both establishing public trust and continuing to hold the health care profession accountable for becoming more trustworthy. (shrink)

© 2015, Springer-Verlag Berlin Heidelberg.Genetic studies have identified single nucleotide polymorphisms associated with the risk of prostate cancer. It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retrospectively collected clinicopathologic information and genotype data for 36 SNPs which at the time had been validated to be associated with PC risk from 25,674 cases with PC. Cases were grouped according to race, Gleason score and aggressiveness. Statistical analyses were used to compare the frequency (...) of the SNPs between different disease cohorts. After adjusting for multiple testing, only PC-risk SNP rs2735839 was significantly and inversely associated with aggressive and high-grade disease in European men. Similar associations with aggressive and high-grade disease were documented in African-American subjects. The G allele of rs2735839 was associated with disease aggressiveness even at low PSA levels in both European and African-American men. Our results provide further support that a PC-risk SNP rs2735839 near the KLK3 gene on chromosome 19q13 may be associated with aggressive and high-grade PC. Future prospectively designed, case-case GWAS are needed to identify additional SNPs associated with PC aggressiveness. (shrink)

Achieving space situational awareness requires, at a minimum, the identification, characterization, and tracking of space objects. Leveraging the resultant space object data for purposes such as hostile threat assessment, object identification, and conjunction assessment presents major challenges. This is in part because in characterizing space objects we reference a variety of identifiers, components, subsystems, capabilities, vulnerabilities, origins, missions, orbital elements, patterns of life, operational processes, operational statuses, and so forth, which tend to be defined in highly heterogeneous and sometimes inconsistent (...) ways. The Space Domain Ontologies are designed to provide a consensus-based realist framework for formulating such characterizations in a way that is both consistent and computable. Space object data are aligned with classes and relations in a suite of ontologies built around the existing Space Object Ontology. They are stored in a dynamically updated Resource Description Framework triple store, which can be queried to support space situational awareness and the needs of spacecraft operators and analysts. This paper provides an overview of the Space Domain Ontologies and their development and use. It presents the motivation for and advantages of the Space Domain Ontologies, including the benefits they provide for enhancing and maintaining long-term space situational awareness. (shrink)