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)

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.

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)

© 2017. The American Astronomical Society. All rights reserved.We present new observations of the low-mass companion to HD 984 taken with the Gemini Planet Imager as a part of the GPI Exoplanet Survey campaign. Images of HD 984 B were obtained in the J and H bands. Combined with archival epochs from 2012 and 2014, we fit the first orbit to the companion to find an 18 au orbit with a 68% confidence interval between 14 and 28 au, an eccentricity (...) of 0.18 with a 68% confidence interval between 0.05 and 0.47, and an inclination of 119°with a 68% confidence interval between 114°and 125°. To address the considerable spectral covariance in both spectra, we present a method of splitting the spectra into low and high frequencies to analyze the spectral structure at different spatial frequencies with the proper spectral noise correlation. Using the split spectra, we compare them to known spectral types using field brown dwarf and low-mass star spectra and find a best-fit match of a field gravity M6.5 ±1.5 spectral type with a corresponding temperature of K. Photometry of the companion yields a luminosity of log=2.88 ± 0.07 dex with DUSTY models. Mass estimates, again from DUSTY models, find an age-dependent mass of 34 ±1 to 95 ±4 M Jup. These results are consistent with previous measurements of the object. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:The Environmental Genome Project and BioethicsRichard R. Sharp (bio) and J. Carl Barrett (bio)Eight years ago, the Kennedy Institute of Ethics Journal published a brief selection by Eric Juengst (1991) entitled “The Human Genome Project and Bioethics.” That essay introduced and described the Ethical, Legal, and Social Implications (ELSI) Program at the National Center for Human Genome Research. 1 Since that time, the ELSI program has grown to (...) become one of the largest and most well regarded bioethics programs in the country, sponsoring the work of hundreds of researchers and coordinating bioethics activities both nationally and internationally (Marshall 1996; Meslin, Thomson, and Boyer 1997). In 1991, however, Juengst, the first director of the ELSI program, had no way of anticipating these developments. Juengst’s goal in his essay was simply to highlight some of the moral and social issues that were emerging as focal points for the ELSI program. Looking back, the issues he outlined may seem vague and overly broad. At the time, however, the essay served an important purpose, to identify areas requiring additional study and thereby to serve as a guide to others interested in joining in these discussions.In many ways, Juengst’s article serves as an inspiration to those of us working on a new bioethics project. The National Institute of Environmental Health Sciences (NIEHS) recently launched a multi-year project aimed at better understanding genetic influences on environmentally associated diseases (Albers 1997; Brown and Hartwell 1998; Cannon 1997; Kaiser 1997). This project, known as the Environmental Genome Project (EGP), plans to identify and study a number of common genetic variants that may play an important role in determining how individuals respond to environmental exposures. NIEHS hopes that the information learned through the EGP will be instrumental in developing more effective disease-prevention strategies and intervention programs. Following the precedent developed in connection with the Human Genome Project, NIEHS also plans to address the moral and social implications of the EGP. Efforts in this regard include sponsoring workshops and conferences to address such issues, as well as supporting research on the ethical, legal, and social implications of the EGP. Through this work, NIEHS hopes to anticipate potential problems before [End Page 175] they arise and to develop policies that maximize the benefits of the research while avoiding potential misuses of the information learned.In exploring the social implications of the EGP, we at NIEHS are very fortunate to be able to draw upon the work being done by the ELSI program at the National Human Genome Research Institute (NHGRI), as well as the ever-expanding bioethics literature that has been sparked by the ELSI program. Still, there is much to be done and this is an exciting time for those of us involved with the EGP. Many of the ethical, legal, and social implications of the project are only beginning to become clearer, and several of these issues appear quite different from the sorts of concerns that have previously been discussed in connection with other types of genetic research.This essay highlights some of the ethical, legal, and social implications that are emerging as important focal points for the Environmental Genome Project. Like Juengst’s 1991 paper, the goal of this article is to provide an overview of current areas of interest and to encourage others to join us in thinking about these difficult issues.The Environmental Genome ProjectIndividuals differ greatly in their responses to chemicals, drugs, radiation, smoking, alcohol, and other environmental exposures. These differential responses are the result of complex interactions between many factors, including an individual’s genetic make-up, age, sex, nutritional status, and overall health. The EGP aims to better understand the genetic basis of differential responses to environmental exposures. The vast majority of diseases, many forms of cancer, for example, are the consequence of both environmental and genetic contributions (Perera 1997). Hence, understanding the relationships between genetic variation and response to environmental exposure is important for understanding the causes of human disease and is crucial for the development of effective disease-prevention strategies.The EGP and projects like it represent a new stage of genomic research. It is expected that the Human Genome Project will complete... (shrink)

The periodic table of the elements is one of the most powerful icons in science: a single document that captures the essence of chemistry in an elegant pattern. Indeed, nothing quite like it exists in biology or physics, or any other branch of science, for that matter. One sees periodic tables everywhere: in industrial labs, workshops, academic labs, and of course, lecture halls. It is sometimes said that chemistry has no deep ideas, unlike physics, which can boast quantum mechanics and (...) relativity, and biology, which has produced the theory of evolution. This view is mistaken, however, since there are in fact two big ideas in chemistry. They are chemical periodicity and chemical bonding, and they are deeply interconnected. The observation that certain elements prefer to combine with specific kinds of elements prompted early chemists to classify the elements in tables of chemical affinity. Later these tables would lead, somewhat indirectly, to the discovery of the periodic system, perhaps the biggest idea in the whole of chemistry. Indeed, periodic tables arose partly through the attempts by Dimitri Mendeleev and numerous others to make sense of the way in which particular elements enter into chemical bonding. (shrink)

For a period of several years the philosopher of science Hasok Chang has promoted various inter-related views including pluralism, pragmatism, and an associated view of natural kinds. He has also argued for what he calls the persistence of everyday terms in the scientific view. Chang claims that terms like phlogiston were never truly abandoned but became transformed into different concepts that remain useful. On the other hand, Chang argues that some scientific terms such as acidity have suffered a form of (...) “rupture”, especially in the case of the modern Lewis definition of acids. Chang also complains that the degree of acidity of a Lewis acid cannot be measured using a pH meter and seems to regard this as a serious problem. The present paper examines some of these views, especially what Chang claims to be a rupture in the definition of acidity. It is suggested that there has been no such rupture but a genuine generalization, on moving from the Brønsted-Lowry theory to the Lewis theory of acidity. It will be shown how the quantification and measurement of Lewis acidity can easily be realized through the use of equilibrium theory and the use of stability constants. (shrink)

With the originality and energy that have marked his earlier works, Eric Wolf now explores the historical relationship of ideas, power, and culture. Responding to anthropology's long reliance on a concept of culture that takes little account of power, Wolf argues that power is crucial in shaping the circumstances of cultural production. Responding to social-science notions of ideology that incorporate power but disregard the ways ideas respond to cultural promptings, he demonstrates how power and ideas connect through the medium (...) of culture. Wolf advances his argument by examining three very different societies, each remarkable for its flamboyant ideological expressions: the Kwakiutl Indians of the Northwest Pacific Coast, the Aztecs of pre-Hispanic Mexico, and National Socialist Germany. Tracing the history of each case, he shows how these societies faced tensions posed by ecological, social, political, or psychological crises, prompting ideological responses that drew on distinctive, historically rooted cultural understandings. In each case study, Wolf analyzes how the regnant ideology intertwines with power around the pivotal relationships that govern social labor. Anyone interested in the history of anthropology or in how the social sciences make comparisons will want to join Wolf in _Envisioning Power_. (shrink)

In his latest book, Eric Scerri presents a completely original account of the nature of scientific progress. It consists of a holistic and unified approach in which science is seen as a living and evolving single organism. Instead of scientific revolutions featuring exceptionally gifted individuals, Scerri argues that the "little people" contribute as much as the "heroes" of science. To do this he examines seven case studies of virtually unknown chemists and physicists in the early 20th century quest to (...) discover the structure of the atom. They include the amateur scientist Anton van den Broek who pioneered the notion of atomic number as well as Edmund Stoner a then physics graduate student who provided the seed for Pauli's Exclusion Principle. Another case is the physicist John Nicholson who is virtually unknown and yet was the first to propose the notion of quantization of angular momentum that was soon put to good use by Niels Bohr. Instead of focusing on the logic and rationality of science, Scerri elevates the role of trial and error and multiple discovery and moves beyond the notion of scientific developments being right or wrong. While criticizing Thomas Kuhn's notion of scientific revolutions he agrees with Kuhn that science is not drawn towards an external truth but is rather driven from within. The book will enliven the long-standing debate on the nature of science, which has increasingly shied away from the big question of "what is science?". (shrink)

One of the consequences of the renewed interest in philosophical aspects of chemistry has been the corresponding renewed interest in the periodic system of the elements which embodies so much chemical knowledge in an implicit form.We have therefore decided to further promote scholarship on the periodic system by compiling a bibliography of previously published material. As the title of this article implies, we restrict ourselves to secondary sources. Readers interested in primary material can consult a number of useful references for (...) this purpose. These include the classical treatment on the History of the periodic system by van Spronsen as well as Mazurs’s compilation of over 700 forms of the periodic system. Mazurs also includes a detailed bibliography of articles and books in several different languages. Additional sources of primary articles which come to mind include David Knight’s Classics in the History of Chemistry, Carmen Giunta’s web pages for the history of chemistry and entries under individual scientists in the Dictionary of Scientific Biography. Turning to the present compilation we do not claim this to be a comprehensive list, since it partly reflects the interests of the senior author (E.R.S.), namely the relationship between the periodic system and quantum mechanics. For example, in addition to articles specifically on the periodic system we include a number of articles which deal with the related themes of electronic configurations of the elements. This bias also explains the disproportionate number of references to the work of the senior author.We have tried to include as many as possible of the articles on the periodic system which have appeared in the philosophy of science literature. These include Bensaude, Christie, Hettema and Kuipers, Kultgen, Lipton, Maher, Scerri, Shapere and Sundaram, among others. (shrink)

Geckos have gained ecological access to novel microhabitats by exploiting intermolecular van der Waals forces, which allow them to climb smooth vertical surfaces. They use microscopic surface‐based phenomena to thrive in a macroscopic mass‐ and kinetic energy‐based world. Here we detail this as a premier example of integrative biology, spanning seven orders of magnitude and a lot of interesting biology. Emergent properties arising from molecular adhesion include several adaptive radiations that have produced a great diversity of geckos worldwide. BioEssays 27:647–652, (...) 2005. © 2005 Wiley Periodicals, Inc. (shrink)

The article begins with a response to a recent contribution by Jensen, in which he has criticized several aspects of the use of triads of elements, including Döbereiner’s original introduction of the concept and the modern use of atomic number triads by some authors including myself. Such triads are groups of three elements, one of which has approximately the average atomic weight of the other two elements, as well as having intermediate chemical reactivity. I also examine Jensen’s attempted reconstruction Mendeleev’s (...) use of triads in predicting the atomic weights of three hitherto unknown elements, that were subsequently named gallium, germanium and scandium. The present article then considers the use of atomic number triads, in conjunction with the phenomenon of first member anomaly, in order to offer support for Janet’s left-step periodic table, in which helium is relocated into group 2 of the table. Such a table features triads in which the 2nd and third elements of each group, without fail, fall into periods of equal length, a feature that is absent in the conventional 18-column or the conventional 32-column table. The dual sense of the term element, which is the source of much discussion in the philosophy of chemistry, is alluded to in further support of such a relocation of helium that may at first appear to contradict chemical intuition. (shrink)

Differing views on reduction are briefly reviewed and a suggestion is made for a working definition of 'approximate reduction'. Ab initio studies in quantum chemistry are then considered, including the issues of convergence and error bounds. This includes an examination of the classic studies on CH2 and the recent work on the Si2C molecule. I conclude that chemistry has not even been approximately reduced.

Although the periodic system of elements is central to the study of chemistry and has been influential in the development of quantum theory and quantum mechanics, its study has been largely neglected in philosophy of science. The present article is a detailed criticism of one notable exception, an attempt by Hettema and Kuipers to axiomatize the periodic table and to discuss the reduction of chemistry in this context.

Amsterdam University Press is a leading publisher of academic books, journals and textbooks in the Humanities and Social Sciences. Our aim is to make current research available to scholars, students, innovators, and the general public. AUP stands for scholarly excellence, global presence, and engagement with the international academic community.

Though whistleblowing is quickly becoming an accepted means of addressing wrongdoing, whistleblower protection laws and the relevant case law are either awkwardly silent, unclear or mutually inconsistent concerning public disclosures of classified government information. I remedy this problem by first arguing that such disclosures constitute a pro tanto wrong as they violate (1) promissory obligations, (2) role obligations and (3) the obligation to respect the democratic allocation of power. However, they may be justified if (1) the information disclosed concerns grave (...) government wrongdoing, (2) alternative channels of disclosure are first exhausted and (3) steps are taken to minimize harm. (shrink)

Fyodor Dostoyevsky expressed a strange and surprising sentiment through one of the characters of The Brothers Karamazov. A dying young man named Markel declares: Every one of us has sinned against all men, and I more than others." He later says: "...every one of us is answerable for everyone else and for everything." Markel's absurd claims have engendered many reflections on the nature of suffering and what it means to be responsible for someone else's suffering. The world has no shortage (...) of pain and evil; what exactly is the relationship between suffering and responsibility? Markel's declarations press forward a question that drives this essay collection: how responsible should we consider ourselves for the suffering of the world? This volume is a collection of essays that struggle in various ways to understand and respond to several philosophical, theological and practical problems. In each case the authors grapple with issues surrounding suffering, immorality, evil, exploitation and oppression. The contributors share a clear concern for the ways that philosophers and theologians should respond to the problems of suffering and evil. They also share a conviction that these remain intense and central problems for philosophy and theology. Evil is an obstacle for belief, for morality, for hospitality, and for hope. This book struggles to address the particular and strong sense of responsibility that falls on Christians when it comes to understanding and, more importantly, responding to the problems of suffering and evil in the world. (shrink)

Physical Relativity explores the nature of the distinction at the heart of Einstein's 1905 formulation of his special theory of relativity: that between kinematics and dynamics. Einstein himself became increasingly uncomfortable with this distinction, and with the limitations of what he called the 'principle theory' approach inspired by the logic of thermodynamics. A handful of physicists and philosophers have over the last century likewise expressed doubts about Einstein's treatment of the relativistic behaviour of rigid bodies and clocks in motion in (...) the kinematical part of his great paper, and suggested that the dynamical understanding of length contraction and time dilation intimated by the immediate precursors of Einstein is more fundamental. Harvey Brown both examines and extends these arguments, after giving a careful analysis of key features of the pre-history of relativity theory. He argues furthermore that the geometrization of the theory by Minkowski in 1908 brought illumination, but not a causal explanation of relativistic effects. Finally, Brown tries to show that the dynamical interpretation of special relativity defended in the book is consistent with the role this theory must play as a limiting case of Einstein's 1915 theory of gravity: the general theory of relativity.Appearing in the centennial year of Einstein's celebrated paper on special relativity, Physical Relativity is an unusual, critical examination of the way Einstein formulated his theory. It also examines in detail certain specific historical and conceptual issues that have long given rise to debate in both special and general relativity theory, such as the conventionality of simultaneity, the principle of general covariance, and the consistency or otherwise of the special theory with quantum mechanics. Harvey Brown' s new interpretation of relativity theory will interest anyone working on these central topics in modern physics. (shrink)

A critique of LaPorte's views on chemical kinds, like jade and ruby, is presented. More positively, a new slant is provided on the question of whether elements are natural kinds. This is carried out by appeal to the dual nature of elements, a topic that has been debated in the philosophy of chemistry but not in the natural kinds literature. It is claimed that the abstract notion of elements, as opposed to their being simple substances, is relevant to the Kripke–Putnam (...) approach to natural kinds and to some criticisms that have been raised against it, although I do not support the K–P account. The proposed view avoids the traditional microstructuralist approach to natural kinds. The article also addresses the question of whether natural kinds concern metaphysical or epistemological considerations. Recent attempts by chemists to modify the periodic table are brought to bear on the question of classification and consequently on whether the identification of elements is interest dependent. (shrink)

The philosopher of chemistry Andrea Woody has recently published a wide-ranging article concerning the turn to practice in the philosophy of science. Her primary example consists of the use of different forms of representations by Lothar Meyer and Mendeleev when they presented their views on chemical periodicity. Woody believes that this distinction can cast light on various issues including why Mendeleev was able to make predictions while Meyer was not. Secondly, she claims that it can clarify the much-debated question concerning (...) the relative values of prediction and accommodation of data in the way that the periodic system was accepted. Thirdly, Woody believes that such differences in the representation of periodicity can be used to argue for the explanatory nature of the periodic table in contrast with the more traditional view that the periodic table is not explanatory. (shrink)

Although research has examined factors influencing understanding of informed consent in biomedical and forensic research, less is known about participants' attention to details in consent documents in psychological survey research. The present study used a randomized experimental design and found the majority of participants were unable to recall information from the consent form in both in-person and online formats. Participants were also relatively poor at recognizing important aspects of the consent form including risks to participants and confidentiality procedures. Memory effects (...) and individual difference characteristics also appeared to influence recall and recognition of consent form information. (shrink)

The chemical nature of element 72, subsequently named hafnium, is generally regarded as a prediction from Bohr's theory of the periodic system and hence as a prediction from quantum theory. It is argued that both of these views and in particular the latter are mistaken. The claim in favour of Bohr's theory is weakened by his accommodation of independent chemical arguments and the claim in favour of quantum theory is untenable since the prediction is not strictly deductive.

The main thrust of the paper involves a theoretical and philosophical analysis of the claim made in September 1999 that atomic orbitals have been directly imaged for the first time. After a brief account of the recent claims the paper reviews the development of the orbit and later orbital concepts and analyzes the theoretical status of atomic orbitals. The conclusion is that contrary to these claims, atomic orbitals have not in fact been observed. The non-referring nature of modern atomic orbitals (...) is discussed in the context of Laudan's writings on realism, the success of theories, and whether or not scientific terms refer. I conclude that the failure to observe orbitals is a good prima facie case for divorcing the success of theories from the question of whether their central terms refer. The added relevance of this case is that it concerns a current and highly successful theory. Finally, the relevance of this 'floating model' to contemporary discussions on scientific models is briefly considered. (shrink)

The article examines a recent interventionist account of causation by Ross, in which electronic configurations of atoms are considered to be the cause of chemical behavior. More specifically I respond to the claim that a change in electronic configuration of an atom, such as occurs in the artificial synthesis of elements, causes a change in the behavior of the atom in question. I argue that chemical behavior is governed as much by the nuclear charge of an atom as it is (...) by its electronic structure. It is suggested that an adequate analysis requires attention to the dynamical interactions between nuclear charges and those of electrons, as typically carried out through the application of the Schrödinger equation. It is concluded that electronic configurations can only be said be causal in a weak sense that is somewhat analogous to the causal arguments that are invoked in folk physics. (shrink)

I claim that the question of whether chemistry is reduced to quantum mechanics is more ambiguous and multi-faceted than generally supposed. For example, chemistry appears to be both reduced and not reduced at the same time depending on the perspective that one adopts. Similarly, I argue that some conceptual issues in quantum mechanics are ambiguous and can only be laid to rest by embracing paradox and ambiguity rather than regarding them as obstacles to be overcome. Recent work in the reduction (...) of chemistry is also reviewed, including discussions of the ontological reduction of chemistry and the question of the emergence of chemistry from physics. (shrink)

A chronological approach that examines the progression of Levinas's deliberations on time over six decades, thus providing new insights about aspects of Levinasian thought that have consistently troubled readers, including the differences between Levinas's early and later writings, his controversial invocation of the feminine, and the blurry line between philosophy and religion in his work"--Provided by publisher.

The historical development of the electronic configuration model is traced and the status of the model with respect to quantum mechanics is examined. The successes and problems raised by the model are explored, particularly in chemical ab initio calculations. The relevance of these issues to whether chemistry has been reduced to quantum mechanics is discussed, as are some general notions on reduction.

The debate about the relative epistemic weights carried in favour of a theory by predictions of new phenomena as opposed to accommodations of already known phenomena has a long history. We readdress the issue through a detailed re-examination of a particular historical case that has often been discussed in connection with it—that of Mendeleev and the prediction by his periodic law of the three ‘new’ elements, gallium, scandium and germanium. We find little support for the standard story that these predictive (...) successes were outstandingly important in the success of Mendeleev's scheme. Accommodations played an equal role—notably that of argon, the first of the ‘noble gases’ to be discovered; and the methodological situation in this chemical example turns out to be in interesting ways different from that in other cases—invariably from physics—that have been discussed in this connection. The historical episode when accurately analysed provides support for a different account of the relative weight of prediction and accommodation—one that is further articulated here. (shrink)