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 \(\textbf{ZF}\), the well-known Fichtenholz–Kantorovich–Hausdorff theorem concerning the existence of independent families of _X_ of size \(|{\mathcal {P}} (X)|\) is equivalent to the following portion of the equally well-known Hewitt–Marczewski–Pondiczery theorem concerning the density of product spaces: “The product \({\textbf{2}}^{{\mathcal {P}}(X)}\) has a dense subset of size |_X_|”. However, the latter statement turns out to be strictly weaker than \(\textbf{AC}\) while the full Hewitt–Marczewski–Pondiczery theorem is equivalent to \(\textbf{AC}\). We study the relative strengths in \(\textbf{ZF}\) between the statement “_X_ has (...) no independent family of size \(|{\mathcal {P}}(X)|\) ” and some of the definitions of “_X_ is finite” studied in Levy’s classic paper, observing that the former statement implies one such definition, is implied by another, and incomparable with some others. (shrink)

As algorithms pervade numerous facets of daily life, they are incorporated into systems for increasingly diverse purposes. These systems’ results are often interpreted differently by the designers who created them than by the lay persons who interact with them. This paper offers a proposal for human-centered algorithm design, which incorporates human and social interpretations into the design process for algorithmically based systems. It articulates three specific strategies for doing so: theoretical, participatory, and speculative. Drawing on the author’s work designing and (...) deploying multiple related systems, the paper provides a detailed example of using a theoretical approach. It also discusses findings pertinent to participatory and speculative design approaches. The paper addresses both strengths and challenges for each strategy in helping to center the process of designing algorithmically based systems around humans. (shrink)

We define the notion of a completely determined Borel code in reverse mathematics, and consider the principle $CD - PB$, which states that every completely determined Borel set has the property of Baire. We show that this principle is strictly weaker than $AT{R_0}$. Any ω-model of $CD - PB$ must be closed under hyperarithmetic reduction, but $CD - PB$ is not a theory of hyperarithmetic analysis. We show that whenever $M \subseteq {2^\omega }$ is the second-order part of an ω-model (...) of $CD - PB$, then for every $Z \in M$, there is a $G \in M$ such that G is ${\rm{\Delta }}_1^1$-generic relative to Z. (shrink)

How do ethics show up in the everyday behaviors and conversations of researchers in a scientific laboratory? How does the microcosmic culture of the laboratory shape researchers’ understandings of scientific ethics? We, an interdisciplinary team representing anthropology, computer science, and rhetorical studies, investigated these questions in two university STEM labs. Similar to previous work mapping out the epistemic cultures, we sought to understand the ethical cultures of these research groups. We observed their lab meetings for several months and conducted interviews (...) with members of the research laboratories. Ultimately, we recognized two distinct ethical cultures within the two laboratories: one focused on the relationship between science and social justice, and the other focused on clean data and accuracy as an ethical issue. These two distinct ethical cultures were discernable through ethnography, close reading of laboratory members’ language, as well as broad-scale topic modeling. Our project complements previous studies of ethics in science that have focused on codes of ethics or student curricula as ways in which scientists develop an understanding of scientific ethics. Our project demonstrates that everyday interactions between the members of scientific research labs additionally shape, at a decidedly local level, how scientists understand and ultimately approach ethical decision-making in the scientific research process. (shrink)

In a recent study on the spawn of the common frog surveyed over several breeding sites, a significant linear relationship. An open question exists, as to why such a strong linear relationship is to be found. Using elementary physics, I suggest some factors which may underly the observed linearity and how it may reveal characteristics other than size of a breeding population. A follow-up experiment is outlined to test for these in the field and some ecological implications are discussed.

Our research on non-religion supports the proposed shift toward more interactive models of prejudice. Being nonreligious is easily hideable and, increasingly, of low salience, leading to experiences not easily understood via traditional or contemporary frameworks for studying prejudice and prejudice reduction. This context affords new opportunity to observe reverse forms of interactive prejudice, which can interfere with prejudice reduction.

No detailed description available for "Themes in Linguistics".

This paper reports on the results of a survey of faculty members at California State University, Northridge in Los Angeles, California regarding their understanding of and familiarity with the concept of fake news. With very few studies published on the attitudes of teaching faculty at universities, this study is a unique approach to the issues facing educators, knowledge creators, and information specialists. The paper examines the origins of the term “fake news”, the factors contributing to its current prevalence, and proposes (...) a new definition. It also reports upon the attitudes that teaching faculty hold, and how they define fake news within their specific disciplines. Though nearly all surveyed faculty felt fake news was an important topic that impacted them professionally, the researchers also find that faculty across all disciplines and ranks, ages, and gender, hold widely differing conceptions of fake news. This lack of consensus may have future implications for students in particular and higher education in general and are worth exploring further. (shrink)

By using instrumentation initially designed for counting white blood cells, sperm counts have been utilized by clinicians since 1929, particularly to evaluate cases of suspected infertility. Although this basic biological parameter might be assumed to be stable over time, several studies over the past 20 years have suggested a decline in sperm count or density. The most controversial of these analyses was published in 1992. A flood of criticism followed this analysis of 61 studies that found a 50% decline in (...) sperm density between 1938 and 1990. Critics suggested that historical methods (of counting sperm or conducting studies) were variable and unreliable, differing from modern methods both qualitatively and quantitatively. To address this issue we analyzed these studies for trends in counting methods or their variability. We found neither. Alternative analyses produced some differences in trend estimates, but statistical factors alone could not account for the total decline in sperm density. We reviewed study populations to identify trends in population characteristics, such as abstinence time, that might explain the decline. However, controlling analytically for such factors only increased the rate of decline. We conclude that historical data on sperm density, despite large random error, are surprisingly reliable. Nonetheless, understanding causes of temporal and geographic differences in sperm density must await contemporary data. BioEssays 21:614–621, 1999. © 1999 John Wiley & Sons, Inc. (shrink)

Gene therapy approaches have great promise in the treatment of neurodegenerative disorders and malignant brain tumors. Neuwelt et al. review available viral-mediated gene therapy methods and their blood-brain-barrier (BBB) disruption delivery technique, briefly mentioning nonviral mediated gene therapy methods. This commentary discussed the BBB disruption delivery technique, viral and nonviral mediated gene therapy approaches to Parkinson's disease, and the potential use of antisense oligo to suppress malignant brain tumors.

Although Brouwer is well known for his Intuitionistic philosophy of mathematics, a constructivist philosophy which calls for restricted use of certain logical principles, there is much less awareness of the well-developed metaphysical basis which underlies those restrictions. In the first half of this paper I outline a basic interpretation of Brouwer's metaphysics, and then in the second half consider the compatibility of that metaphysics with Dummett's argument for a principled non-metaphysical approach to intuitionism. I conclude that once the variously misleading (...) accretions of the central concepts - metaphysics and logic - are set aside, Dummett and Brouwer's accounts can be seen to be at the very least compatible, if not complementar. (shrink)

Although Brouwer is well known for his Intuitionistic philosophy of mathematics, a constructivist philosophy which calls for restricted use of certain logical principles, there is much less awareness of the well-developed metaphysical basis which underlies those restrictions. In the first half of this paper I outline a basic interpretation of Brouwer's metaphysics, and then in the second half consider the compatibility of that metaphysics with Dummett's argument for a principled non-metaphysical approach to intuitionism. I conclude that once the variously misleading (...) accretions of the central concepts - metaphysics and logic - are set aside, Dummett and Brouwer's accounts can be seen to be at the very least compatible, if not complementar. (shrink)

Intraspecific niche variation can differentially impact community processes and can represent the initial stages of adaptive radiation. Here we test for intraspecific differences in niche use in a keystone species, the alewife (Alosa pseudoharengus). To test whether feedbacks between predator foraging traits and prey communities have led to differences in niche use, we compare the diet composition and trophic position of anadromous and landlocked alewife populations. These populations differ in phenotypic traits related to foraging (gill raker spacing, gape width, and (...) prey selectivity). Trait differences appear to have resulted from eco-evolutionary feedbacks between alewives and their zooplankton prey, and suggest that these two life history forms are exploiting different niches. Direct diets show that anadromous alewives consume a greater biomass of predatory copepods than do landlocked alewives. Anadromous alewives also consume more ostracods—a littoral prey item—as the growing season progresses. These diet differences do not translate into a significant difference in trophic position, as estimated from stable isotopes. However, stable-isotope estimates of diet source show that during early fall, anadromous alewives obtain significantly more of their dietary carbon from the littoral food web. This increased reliance on littoral prey is likely a result of a diet switch that occurs in response to the alewife-driven exhaustion of large-bodied prey items available in the pelagic zone, i.e., alewife niche construction. These findings show the existence of important intraspecific niche differences in the alewife and support the role of eco-evolutionary feedbacks in shaping these niche differences. The initiation of alewife divergence is the result of dam building by humans. Therefore, alewife niche differentiation can be considered to be an eco-evolutionary byproduct of human cultural niche construction. (shrink)

For most of the history of prejudice research, negativity has been treated as its emotional and cognitive signature, a conception that continues to dominate work on the topic. By this definition, prejudice occurs when we dislike or derogate members of other groups. Recent research, however, has highlighted the need for a more nuanced and (Eagly 2004) perspective on the role of intergroup emotions and beliefs in sustaining discrimination. On the one hand, several independent lines of research have shown that unequal (...) intergroup relations are often marked by attitudinal complexity, with positive responses such as affection and admiration mingling with negative responses such as contempt and resentment. Simple antipathy is the exception rather than the rule. On the other hand, there is mounting evidence that nurturing bonds of affection between the advantaged and the disadvantaged sometimes entrenches rather than disrupts wider patterns of discrimination. Notably, prejudice reduction interventions may have ironic effects on the political attitudes of the historically disadvantaged, decreasing their perceptions of injustice and willingness to engage in collective action to transform social inequalities. (shrink)

an anarchist critique of Bolshevism, drawing on Walter Benjamin. The translation and commentary published as "Theories of Justice, Profane and Prophetic: Gershom Scholem on the Bolshevik Revolution" in Gershom Scholem: In memoriam, Vol. 2, Jerusalem Studies in Jewish Thought, 21, 2007.

a short text on the concept of justice by Walter Benjamin. The text was preserved by Gershom Scholem on 8 October 1916, the same method by which most of Benjamin's early writings have reached us. However, this piece somehow remained undetected by the editors of the Gesammelte Schriften. It first appeared in German and English in Metaphysics of the Profane, New York: Columbia University Press, 2003, pp. 166-169, with permission of the German publishers Suhrkamp Verlag. It is presented here with (...) a typographical error corrected. (shrink)