Over one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene‐specific probes have demonstrated that the mutations resulting in a particular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene‐specific probe is not available, defects have been localized to chromosomal regions by family studies. Recently (...) developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances in the understanding of many monogenic disorders. (shrink)

It has long been recognized that cancer onset and progression represent a type of reversion to an ancestral quasi‐unicellular phenotype. This general concept has been refined into the atavistic model of cancer that attempts to provide a quantitative analysis and testable predictions based on genomic data. Over the past decade, support for the multicellular‐to‐unicellular reversion predicted by the atavism model has come from phylostratigraphy. Here, we propose that cancer onset and progression involve more than a one‐off multicellular‐to‐unicellular reversion, and are (...) better described as a series of reversionary transitions. We make new predictions based on the chronology of the unicellular‐eukaryote‐to‐multicellular‐eukaryote transition. We also make new predictions based on three other evolutionary transitions that occurred in our lineage: eukaryogenesis, oxidative phosphorylation and the transition to adaptive immunity. We propose several modifications to current phylostratigraphy to improve age resolution to test these predictions. Also see the video abstract here: https://youtu.be/3unEu5JYJrQ. (shrink)

Although considerable research indicates that mental energy is an important factor in many domains, including athletic performance (Cook & Davis, 2006), athletic mental energy (AME) has never been conceptualized and measured. Therefore, the aim of this study was to conceptualize and develop a reliable and valid instrument to assess athletic mental energy. In Study 1, a focus group interview established the initial framework of athletic mental energy. Study 2 used a survey to collect athletes’ experiences of athletic mental energy (...) and develop a scale draft titled “Athletic Mental Energy Scale (AMES).” In Study 3, we examined the psychometric properties and the underlying structure of AMES via item analysis, internal consistency, and exploratory factor analysis (EFA). In Study 4, we used confirmatory factor analysis (CFA) to examine AMES’s factorial validity; and examined concurrent and discriminant validity by examining correlations with athletes’ life stress, positive state of mind, and burnout. In study 5, we examined the measurement invariance of the 6-factor, 18-item AMES with Taiwanese and Malaysian samples. Study 6 examined the predictive validity by comparing AMES scores of successful and unsuccessful martial artists. Across these phases, results showed a 6-factor, 18-item AMES had adequate content validity, factorial structure, nomological validity, discriminant validity, predictive validity, measurement invariance, and reliability. We suggest future studies may use AMES to examine its relationships with athletes’ cognition, affect, and performance. The application of AMES in sport psychology was also discussed. (shrink)

Recent magnetic resonance imaging and pathological studies have indicated that axonal loss is a major contributor to disease progression in multiple sclerosis. 1 H magnetic resonance spectroscopy, through measurement of N -acetyl aspartate, a neuronal marker, provides a unique tool to investigate this. Patients with primary progressive multiple sclerosis have few lesions on conventional MRI, suggesting that changes in normal appearing white matter, such as axonal loss, may be particularly relevant to disease progression in this group. To test this hypothesis (...) NAWM was studied with MRS, measuring the concentration of N -acetyl derived groups. Single-voxel MRS using a water-suppressed PRESS sequence was carried out in 24 patients with primary progressive multiple sclerosis and in 16 age-matched controls. Ratios of metabolite to creatine concentration were calculated in all subjects, and absolute concentrations were measured in 18 patients and all controls. NA/Cr was significantly lower in NAWM in patients than in controls, as was the absolute concentration of NA. There was no significant difference in the absolute concentration of creatine between the groups. This study supports the hypothesis that axonal loss occurs in NAWM in primary progressive multiple sclerosis and may well be a mechanism for disease progression in this group. (shrink)

This research explored the ethical issues that nurses reported in the process of elaboration and further disclosure after an initial diagnosis of a terminal illness had been given. One hundred and six hospice nurses in Norway and Denmark completed a questionnaire containing 45 items of forced-choice and open-ended questions. This questionnaire was tested and used in three countries prior to this study; for this research it was tested on Danish and Norwegian nurses. All respondents supported the ethics of ongoing disclosure (...) to terminally ill patients based on ethical principles embedded in their country’s Patients’ Rights Acts. Truth, as an intrinsic value, proved foundational to patient autonomy, the most frequent ethical principle these nurses reported to justify their ethical position on information disclosure to terminally ill people. Telling the truth about a diagnosis was not the end of ethics in hospice care, but rather the beginning because what occurs ethically in dealing with prognosis issues became central to these hospice nurses, the patients and their families. Coupled with truth-telling, compassionate interaction and care become extensions of patients’ rights. (shrink)

Thomas Jefferson and Philosophy: Essays on the Philosophical Cast of Jefferson’s Writings is a collection of essays on topics that relate to philosophical aspects of Jefferson’s thinking over the years. Much historical insight is given to ground the various philosophical strands in Jefferson’s thought and writing on topics such as political philosophy, moral philosophy, slavery, republicanism, wall of separation, liberty, educational philosophy, and architecture.

In the last decade, reading research has seen a paradigmatic shift. A new wave of computational models of orthographic processing that offer various forms of noisy position or context-sensitive coding have revolutionized the field of visual word recognition. The influx of such models stems mainly from consistent findings, coming mostly from European languages, regarding an apparent insensitivity of skilled readers to letter order. Underlying the current revolution is the theoretical assumption that the insensitivity of readers to letter order reflects the (...) special way in which the human brain encodes the position of letters in printed words. The present article discusses the theoretical shortcomings and misconceptions of this approach to visual word recognition. A systematic review of data obtained from a variety of languages demonstrates that letter-order insensitivity is neither a general property of the cognitive system nor a property of the brain in encoding letters. Rather, it is a variant and idiosyncratic characteristic of some languages, mostly European, reflecting a strategy of optimizing encoding resources, given the specific structure of words. Since the main goal of reading research is to develop theories that describe the fundamental and invariant phenomena of reading across orthographies, an alternative approach to model visual word recognition is offered. The dimensions of a possible universal model of reading, which outlines the common cognitive operations involved in orthographic processing in all writing systems, are discussed. (shrink)

Late in 1990, the Center for the Study of Ethics in the Professions at Illinois Institute of Technology (lIT) received a grant of more than $200,000 from the National Science Foundation to try a campus-wide approach to integrating professional ethics into its technical curriculum.! Enough has now been accomplished to draw some tentative conclusions. I am the grant's principal investigator. In this paper, I shall describe what we at lIT did, what we learned, and what others, especially philosophers, can learn (...) from us. We set out to develop an approach that others could profitably adopt. I believe that we succeeded. (shrink)

Background: The Declaration of Helsinki, the World Medical Association’s statement of ethical guidelines regarding medical research, is published in the three official languages of the WMA: English, French and Spanish.Methods: A detailed comparison of the three official language versions was carried out to determine ways in which they differed and ways in which the wording of the three versions might illuminate the interpretation of the document.Results: There were many minor linguistic differences between the three versions. However, in paragraphs 1, 6, (...) 29, 30 and in the note of clarification to paragraph 29, there were differences that could be considered potentially significant in their ethical relevance.Interpretation: Given the global status of the Declaration of Helsinki and the fact that it is translated from its official versions into many other languages for application to the ethical conduct of research, the differences identified are of concern. It would be best if such differences could be eliminated but, at the very least, a commentary to explain any differences that are unavoidable on the basis of language or culture should accompany the Declaration of Helsinki. This evidence further strengthens the case for international surveillance of medical research ethics as has been proposed by the WMA. (shrink)

There was a deep continuity in Wollheim’s thought from his book on F. H. Bradley onward. His notion of the concept of art as deeply interiorized was inextricable from his sense of the psychological unity of the mind and the historical continuity of artistic tradition, seen on analogy with an inherited language. His study of pictorial representation pivoted on the innate psychological capacity of ‘seeing-in’, perceiving the represented subject in a surface from which it was seen as distinct but to (...) which it could be related. The expressiveness of depiction he explained through a psychoanalytic concept of projection in which we come to see a piece of the external world as corresponding to an inward state of mind. He reserved the use of the term ‘imagination’ for the artist’s elaboration of ‘seeing-in’. This he exemplified in accounts of painting by Manet, Friedrich, Titian, and Ingres among others. His critical stance has a close affinity with certain essays by Pater. (shrink)

In England, Wales and Scotland, the vast majority of abortions take place in the first trimester of pregnancy. In 2009, for example, 91% of abortions were carried out at under 13 weeks gestation for women resident in England and Wales. 1 Early abortion opens up the opportunity for a woman to have a medical abortion rather than a surgical abortion. Medical abortion is considered to be less invasive and less expensive than surgical abortion, and is increasingly becoming the preferred method. (...) 1 The proportion of medical abortions to surgical abortions has doubled in the last five years with 52% of abortions being medical abortions under 9 weeks gestation in 2009. A medical abortion typically involves taking mifepristone to block the hormones that help a pregnancy to continue, and then later on misoprostol, which makes the womb expel the embryo/fetus, usually within 4–6 h. Current legislation requires that both sets of drugs are administered in an NHS hospital or approved place, but women can go home after taking the second dose of drugs to complete the abortion. There has long been disagreement between the Department of Health and the British Pregnancy Advisory Services about what constitutes ‘any treatment for the termination of pregnancy’ under the Abortion Act 1967, specifically whether a woman taking the second set of drugs is considered to be undergoing the ‘treatment’ and is therefore required to be present in premises permitted under the Act. At the end of 2010, BPAS went to the High Court to challenge the Department of Health's view that the legislation requires women to take both sets of drugs in an approved place. BPAS argued that ‘treatment’ stops at the point of prescription and women should be able to go home, …. (shrink)

Sūkṣmāgama: Volume III, Chapters 54 to 85. Critical Edition. By S. Sambandhaśivācarya, B. Dagens, M.-L. Barazer-Billoret, and T. Ganesan with the collaboration of J.-M. Creisméas. Collection Indologie, vol. 114.3. Pondichéry: institut FranCçais de Pondichéry, 2018. Pp. cxcviii + 348.

The “Lives of Great Religious Books” from Princeton University Press is a series with the worthy goal of introducing general readers to major works from many different traditions. The phrase “lives of” indicates that the point is not just to elucidate the work’s meaning but also to trace how it has been interpreted between the time of its composition and the present day. In Richard H. Davis, the author of one previous book on visual culture in India and another (...) dealing with Śaiva ritual, Princeton has found a happy conjunction of scholar and subject matter. To The Bhagavad Gita: A Biography Davis brings years of reflection on the diversity of religious expression in medieval and modern India, and.. (shrink)

This book explains the role of simple biological model systems in the growth of molecular biology. Essentially the whole history of molecular biology is presented here, tracing the work in bacteriophages in E. coli, the role of other prokaryotic systems, and also the protozoan and algal models—Paramecium and Chlamydomonas, primarily—and the move into eukaryotes with the fungal systems Neurospora, Aspergillus and yeast. Each model was selected for its appropriateness for asking a given class of questions, and each spawned its own (...) community of investigators. Some individuals made the transition to a new model over time, and remnant communities of investigators continue to pursue questions in all these models, as the cutting edge of molecular biological research flowed onward from model to model, and onward into higher organisms and, ultimately, mouse and man. (shrink)