Repetitive thinking predicts and maintains depression and anxiety, yet the role of RT in the perinatal context has been under-researched. Further, the content and themes that emerge during RT in the perinatal period have been minimally investigated. We recruited an online community sample of women who had their first baby within the past 12 months. Participants completed a battery of self-report questionnaires which included four open-ended questions about the content of their RT. Responses to the latter were analyzed using an (...) inductive thematic analysis approach. Participants reported RT about a range of unexpected emotional responses to becoming a new mother, impact on their sleep and cognitive functioning, as well as the impact on their identity, sense of self, lifestyle, achievements, and ability to function. RT was commonly experienced in first-time mothers, and the themes that emerged conveyed an overall sense of discrepancy between expectations and reality, as well as adjustment to profound change. By providing insight into the content of RT in new mothers, the findings of our study have scope to inform the content of interventions that seek to prevent and treat postnatal mental health problems, particularly those which target key psychological processes such as RT. (shrink)

Background Investigative genetic genealogy (IGG) is a technique that involves uploading genotypes developed from perpetrator DNA left at a crime scene, or DNA from unidentified remains, to public genetic genealogy databases to identify genetic relatives and, through the creation of a family tree, the individual who was the source of the DNA. As policymakers demonstrate interest in regulating IGG, it is important to understand public perspectives on IGG to determine whether proposed policies are aligned with public attitudes.Methods We conducted eight (...) focus groups with members of the public (N = 72), sampled from four geographically diverse US regions, to explore general attitudes and perspectives regarding aspects of IGG practices, applications, and policies. Five major topics were explored in each focus group: when IGG should be used; who should perform IGG; how to approach consent for genetic database users; what systems of oversight should govern IGG practitioners; and whether to notify database users if their data are involved in law enforcement (LE) matching.Results Participants were supportive of IGG in most scenarios, especially for cold and violent cases. The favorable attitudes toward IGG were, however, tempered by distrust of law enforcement among some participants. All participants agreed that databases must inform users if IGG is allowed, but they did not agree on how individual database users should be allowed to opt out or whether to notify them if their data are involved in specific investigations. All participants agreed that IGG should be subject to some prescriptive guidelines, regulations, or accountability mechanisms.Conclusions These findings suggest broad public support for IGG, and interest in developing systems of accountability for its practice. Our study provides useful insight for policy makers, genomic database stewards, law enforcement, and other stakeholders in IGG’s practice, and suggests multiple directions for future research. (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)

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)

Understanding the clinical significance of variants associated with hereditary cancer risk requires access to a pooled data resource or network of resources—a “cancer gene variant commons”—incorporating representative, well-characterized genetic data, metadata, and, for some purposes, pathways to case-level data. Several initiatives have invested significant resources into collecting and sharing cancer gene variant data, but further progress hinges on identifying and addressing unresolved policy issues. This commentary provides insights from a modified policy Delphi process involving experts from a range of stakeholder (...) groups involved in the data-sharing ecosystem. In particular, we describe policy issues and options generated by Delphi participants in five domains critical to the development of an effective cancer gene variant commons: incentives, financial sustainability, privacy and security, equity, and data quality. Our intention is to stimulate wider discussion and lay a foundation for further work evaluating policy options more in-depth and mapping them to those who have the power to bring about change. Addressing issues in these five domains will contribute to a cancer gene variant commons that supports better care for at-risk and affected patients, empowers patient communities, and advances research on hereditary cancers. (shrink)

Cet article parle de la nécessité de repenser la notion de la différence sexuelle après le mal appropriation de celle-ci par « la manif pour tous ». Chaque tentative de former une ontologie fondée sur cette différence risque une favorisation de l’hétéronormativité et de l’essentialisme. En me servant de la philosophie d’Elizabeth Grosz sur Darwin, j’essaie de reformuler la différence sexuelle en des termes positifs et de voir celle-ci comme une notion qui facilite (plutôt que limite) la diversité. Le texte (...) est divisé en deux parties : 1. L’instrumentalisation de la différence sexuelle pour promouvoir l’hétéronormativité, et 2. Repenser une ontologie fondée sur la différence sexuelle. (shrink)

Endochondral bone formation can take place in the embryo, during fracture healing, or in postnatal animals after induction by implanted demineralized bone matrix. This matrix‐induced bone formation recapitulates the embryonic sequence of bone formation morphologically and biochemically. The steps in bone formation in both systems include differentiation of cartilage from mesenchyme, cartilage maturation, invasion of the cartilage by blood vessels and marrow precursors, and formation of bone and bone marrow. Recently, bone inductive molecules from demineralized bone matrix have been purified, (...) sequenced and produced as recombinant proteins. While there are similarities between bone development in the embryo and that after induction by these purified molecules, the molecules responsible for bone induction in the embryo have not yet been defined. Because of similarities between the two methods of bone formation, studies of Bone induction by demineralized bone matrix may help to elucidate mechanisms of embryonic bone induction. (shrink)

"Remarkable how well Bouwsma understood Wittgenstein's approach to philosophical problems and how intelligently he was able to recount Wittgenstein's discussions. The bits about sensation are especially good. And the asides about the other philosophers--e.g. Dewey, Russell, Anscombe--are, while not frivolous, gossipy and titillating." --Riley Wallihan, Western Oregon University.

This paper critically examines a formal argument against deducing ‘ought’-judgments from ‘is’-judgments, an argument suggested by a literal reading of a famous passage in Hume'sTreatise of Human Nature. According to this argument, judgments of the two kinds have different logical structures (i.e., their subjects are differently related to their predicates) and this difference disallows cross-categorical deductive inferences. I draw on Fregean accounts of the ‘is’- copula and on syntactical interpretations of ‘ought’-judgments that have become standard in deontic logic to argue (...) that twentieth century work in philosophical grammar and logic casts doubt on all three of the argument's premises. (shrink)

The Roman Inquisition against Heretical Depravity, also known as the Holy Office, established in 1542, and the Congregation of the Index of Prohibited Books, announced officially in 1572, undertook to protect Italy from ideas and practices that menaced the authority of the Roman Catholic Church in this world and the salvation of its members in the next. This grandiose public-health program required trained and dedicated thought police to receive and evaluate alarms from the public and, when business was bad, to (...) seek out sources of infection themselves. The resultant records of accusations, investigations, trials, condemnations, expurgations, and exceptions, if extant in its entirety, would go far to fill.. (shrink)