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)

“Losing Thomas & Ella” presents a research comic about one father’s perinatal loss of twins. The comic recounts Paul’s experience of the hospital and the babies’ deaths, and it details the complex grieving process afterward, including themes of anger, distance, relationship stress, self-blame, religious challenges, and resignation. A methodological appendix explains the process of constructing the comic and provides a rationale for the use of comics-based research for illness, death, and grief among practitioners, policy makers, and the bereaved.

In an attempt to improve upon Alexander Pruss’s work (The principle of sufficient reason: A reassessment, pp. 240–248, 2006), I (Weaver, Synthese 184(3):299–317, 2012) have argued that if all purely contingent events could be caused and something like a Lewisian analysis of causation is true (per, Lewis’s, Causation as influence, reprinted in: Collins, Hall and paul. Causation and counterfactuals, 2004), then all purely contingent events have causes. I dubbed the derivation of the universality of causation the “Lewisian argument”. The (...) Lewisian argument assumed not a few controversial metaphysical theses, particularly essentialism, an incommunicable-property view of essences (per Plantinga’s, Actualism and possible worlds, reprinted in: Davidson (ed.) Essays in the metaphysics of modality, 2003), and the idea that counterfactual dependence is necessary for causation. There are, of course, substantial objections to such theses. While I think a fight against objections to the Lewisian argument can be won, I develop, in what follows, a much more intuitive argument for the universality of causation which takes as its inspiration a result from Frederic B. Fitch’s work (J Symb Logic 28(2):135–142, 1963) [with credit to who we now know was Alonzo church’s, Referee Reports on Fitch’s Definition of value, in: (Salerno (ed.), New essays on the knowability paradox, 2009)] that if all truths are such that they are knowable, then (counter-intuitively) all truths are known. The resulting Church–Fitch proof for the universality of causation is preferable to the Lewisian argument since it rests upon far weaker formal and metaphysical assumptions than those of the Lewisian argument. (shrink)

In (Weaver 2021), I showed that Boltzmann’s H-theorem does not face a significant threat from the reversibility paradox. I argue that my defense of the H-theorem against that paradox can be used yet again for the purposes of resolving the recurrence paradox without having to endorse heavy-duty statistical assumptions outside of the hypothesis of molecular chaos. As in (Weaver 2021), lessons from the history and foundations of physics reveal precisely how such resolution is achieved.

A Dedekind algebra is an ordered pair (B, h), where B is a non-empty set and h is a similarity transformation on B. Among the Dedekind algebras is the sequence of the positive integers. From a contemporary perspective, Dedekind established that the second-order theory of the sequence of the positive integers is categorical and finitely axiomatizable. The purpose here is to show that this seemingly isolated result is a consequence of more general results in the model theory of second-order languages. (...) Each Dedekind algebra can be decomposed into a family of disjoint, countable subalgebras called the configurations of the algebra. There are ?0 isomorphism types of configurations. Each Dedekind algebra is associated with a cardinal-valued function on ? called its configuration signature. The configuration signature counts the number of configurations in each isomorphism type that occurs in the decomposition of the algebra. Two Dedekind algebras are isomorphic iff their configuration signatures are identical. The second-order theory of any countably infinite Dedekind algebra is categorical, and there are countably infinite Dedekind algebras whose second-order theories are not finitely axiomatizable. It is shown that there is a condition on configuration signatures necessary and sufficient for the second-order theory of a Dedekind algebra to be finitely axiomatizable. It follows that the second-order theory of the sequence of the positive integers is categorical and finitely axiomatizable. (shrink)

This paper introduces the notion of syntactic feature to provide a unified treatment of earlier model theoretic proofs of both the compactness and interpolation theorems for a variety of two valued logics including sentential logic, first order logic, and a family of modal sentential logic includingM,B,S 4 andS 5. The compactness papers focused on providing a proof of the consequence formulation which exhibited the appropriate finite subset. A unified presentation of these proofs is given by isolating their essential feature and (...) presenting it as an abstract principle about syntactic features. The interpolation papers focused on exhibiting the interpolant. A unified presentation of these proofs is given by isolating their essential feature and presenting it as a second abstract principle about syntactic features. This second principle reduces the problem of exhibiting the interpolant to that of establishing the existence of a family of syntactic features satisfying certain conditions. The existence of such features is established for a variety of logics (including those mentioned above) by purely combinatorial arguments. (shrink)

A Dedekind algebra is an order pair (B, h) where B is a non-empty set and h is a similarity transformation on B. Each Dedekind algebra can be decomposed into a family of disjoint, countable subalgebras called the configurations of the algebra. There are 0 isomorphism types of configurations. Each Dedekind algebra is associated with a cardinal-valued function on called its configuration signature. The configuration signature counts the number of configurations in each isomorphism type which occur in the decomposition of (...) the algebra. Two Dedekind algebras are isomorphic iff their configuration signatures are identical. It is shown that configuration signatures can be used to characterize the homogeneous, universal and homogeneous-universal Dedekind algebras. This characterization is used to prove various results about these subclasses of Dedekind algebras. (shrink)

A Dedekind Algebra is an ordered pair (B,h) where B is a non-empty set and h is an injective unary function on B. Each Dedekind algebra can be decomposed into a family of disjoint, countable subalgebras called configurations of the Dedekind algebra. There are N0 isomorphism types of configurations. Each Dedekind algebra is associated with a cardinal-valued function on omega called its configuration signature. The configuration signature of a Dedekind algebra counts the number of configurations in the decomposition of the (...) algebra in each isomorphism type.The configuration signature of a Dedekind algebra encodes the structure of that algebra in the sense that two Dedekind algebras are isomorphic iff their configuration signatures are identical. Configuration signatures are used to establish various results in the first-order model theory of Dedekind algebras. These include categoricity results for the first-order theories of Dedekind algebras and existence and uniqueness results for homogeneous, universal and saturated Dedekind algebras. Fundamental to these results is a condition on configuration signatures that is necessary and sufficient for elementary equivalence. (shrink)

M. Oaksford and N. Chater presented a Bayesian analysis of the Wason selection task in which they proposed that people choose cards in order to maximize expected information gain as measured by reduction in uncertainty in the Shannon-Weaver information theory sense. It is argued that the EIG measure is both psychologically implausible and normatively inadequate as a measure of epistemic utility. The article is also concerned with the descriptive account of findings in the selection task literature offered by Oaksford (...) and Chater. First, it is shown that their analysis data reported in the recent article of K. N. Kirby is unsound; second, an EIG analysis is presented of the experiments of P. Pollard and J. St. B. T. Evans that provides a strong empirical disconfirmation of the theory. (shrink)

Background: Older, frail patients with multimorbidity are at an especially high risk for disease severity and death from COVID-19. The social restrictions proved challenging for the residents, their relatives, and the care staff. While these restrictions clearly impacted daily life in Norwegian nursing homes, knowledge about how the pandemic influenced nursing practice is sparse. Aim: The aim of the study was to illuminate ethical difficult situations experienced by Norwegian nurses working in nursing homes during the COVID-19 pandemic. Research design and (...) participants: The research design involved semistructured individual interviews conducted with 15 nurses working in 8 nursing homes in 3 health regions in Norway, within both urban and rural areas. Ethical considerations: Oral and written information about the study was provided before the participants gave their written consent. The transcribed interviews were de-identified. The study was approved by the Norwegian Centre for Research Data. Findings: Four ethical difficult situations were identified: (a) turning the nursing home into a prison; (b) using medication to maintain peace and order; (c) being left alone with the responsibility; and (d) s. impact on decision-making. Conclusions: The nurses’ ethical challenges were intertwined with external factors, such as national and local guidelines, and the nurses’ own internalized factors, which were connected to their subjective professionality. This duality inflicted emotional distress and gave nurses few opportunities to perform nursing in a professionally sound and safe manner. (shrink)

We propose a way in which Barsalou could strengthen his position and at the same time make a considerable dent in the category/abstraction problem (that he suggests remains unsolved). There exists a class of connectionist models that solves this problem parsimoniously and provides a mechanistic underpinning for the promising high-level architecture he proposes.

Objectives: to assess physicians’ and patients’ views in Saudi Arabia towards involving the patient versus the family in the process of diagnosis disclosure and decision-making, and to compare them with views from the USA and Japan.Design: A self-completion questionnaire was translated to Arabic and validated.Participants: Physicians from different specialties and ranks and patients in a hospital or attending outpatient clinics from 6 different regions in KSA.Results: In the case of a patient with incurable cancer, 67% of doctors and 51% of (...) patients indicated that they would inform the patient in preference to the family of the diagnosis . Assuming the family already knew, 56% of doctors and 49% of patients would tell the patient even if family objected . However, in the case of HIV infection, 59% of physicians and 81% of patients would inform the family about HIV status without the patient’s consent . With regards to withholding ventilatory support, about 50% of doctors and over 60% of patients supported the use of mechanical ventilation in a patient with advanced cancer, regardless of the wishes of the patient or the family. Finally, the majority of doctors and patients were against assisted suicide.Conclusions: Although there was more recognition for a patient’s autonomy amongst physicians, most patients preferred a family centred model of care. Views towards information disclosure were midway between those of the USA and Japan. Distinctively, however, decisions regarding life prolonging therapy and assisted suicide were not influenced to a great extent by wishes of the patient or family, but more likely by religious beliefs. (shrink)

This work has been selected by scholars as being culturally important and is part of the knowledge base of civilization as we know it. This work is in the public domain in the United States of America, and possibly other nations. Within the United States, you may freely copy and distribute this work, as no entity (individual or corporate) has a copyright on the body of the work. Scholars believe, and we concur, that this work is important enough to be (...) preserved, reproduced, and made generally available to the public. To ensure a quality reading experience, this work has been proofread and republished using a format that seamlessly blends the original graphical elements with text in an easy-to-read typeface. We appreciate your support of the preservation process, and thank you for being an important part of keeping this knowledge alive and relevant. (shrink)

Compact quantum systems have underlying compact kinematical Lie algebras, in contrast to familiar noncompact quantum systems built on the Weyl-Heisenberg algebra. Pauli asked in the latter case: to what extent does knowledge of the probability distributions in coordinate and momentum space determine the state vector? The analogous question for compact quantum systems is raised, and some preliminary results are obtained.

In this paper, I consider a variety of objections against the covering-law model of scientific explanation, show that Aristotle was already aware of them and had solutions for them, and argue that these solutions are correct. These solutions involve the notions of nonHumean causality and of essential properties. There are a great many familiar objections, both methodological and epistemological, to introducing these concepts into the methodology of science, but I show that these objections are based upon misunderstandings of these concepts.