Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as “missing heritability.” Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very often, each one (...) of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases. (shrink)

By a result of L.D. Beklemishev, the hierarchy of nested applications of the $$\Sigma _1$$ -collection rule over any $$\Pi _2$$ -axiomatizable base theory extending Elementary Arithmetic collapses to its first level. We prove that this result cannot in general be extended to base theories of arbitrary quantifier complexity. In fact, given any recursively enumerable set of true $$\Pi _2$$ -sentences, S, we construct a sound $$(\Sigma _2 \! \vee \! \Pi _2)$$ -axiomatized theory T extending S such that the (...) hierarchy of nested applications of the $$\Sigma _1$$ -collection rule over T is proper. Our construction uses some results on subrecursive degree theory obtained by L. Kristiansen. (shrink)

This article provides a critical and philosophical assessment of arguments invoked for and against the constitutional protection of commercial expression and the regulation of commercial speech with a focus on the commercialization of unhealthy food products.

Two decades have passed since the first attempts were made to establish systematic ethical review of human research in the Baltic States. Legally and institutionally much has changed. In this paper we provide an historical and structural overview of ethical review of human research and identify some problems related to the role of ethical review in establishing quality research environment in these countries. Problems connected to (a) public availability of information, (b) management of conflicts of interest, (c) REC composition and (...) motivation of REC members, and (d) differing levels of stringency of ethical review for different types of studies, are identified. Recommendations are made to strengthen cooperation among the Baltic RECs. (shrink)

Two decades have passed since the first attempts were made to establish systematic ethical review of human research in the Baltic States. Legally and institutionally much has changed. In this paper we provide an historical and structural overview of ethical review of human research and identify some problems related to the role of ethical review in establishing quality research environment in these countries. Problems connected to (a) public availability of information, (b) management of conflicts of interest, (c) REC composition and (...) motivation of REC members, and (d) differing levels of stringency of ethical review for different types of studies, are identified. Recommendations are made to strengthen cooperation among the Baltic RECs. (shrink)

Preface de Pierre-Francois Moreau Beaucoup l'ont constate: il y a un air de famille entre spinozisme et psychanalyse. Meme remise en cause des attributs classiques de la subjectivite (libre-arbitre et transparence de la conscience a elle-meme); meme valorisation de l'affectivite du sujet (et notamment de la force de son desir); meme apprehension materialiste des phenomenes theologico-politiques (a travers l'analyse de la puissance de l'imaginaire); et dans une certaine mesure, meme visee therapeutique... Les deux grands noms de la psychanalyse, Freud et (...) Lacan, n'ont d'ailleurs pas cache, au moins a une certaine periode de leur parcours intellectuel, une proximite avec la pensee spinoziste. Soit. Mais ces grandes lignes de rapprochement entre psychanalyse et spinozisme permettent-elles autre chose que de dessiner une vague parente, dont il serait tout aussi aise, sinon plus, de souligner les lignes de fracture? Pour ne pas en rester a ce niveau de generalite, il est necessaire d'analyser precisement les notions, les problemes, les theses et les textes a travers lesquels cette confrontation entre spinozisme et psychanalyse prend sens et devient fructueuse. C'est le defi qu'entend relever le present recueil, le premier consacre a une telle confrontation. (shrink)

The review by De Bie et al. (2023) provides an overview of the current ethical literature on artificial womb technology (AWT). Two characteristics stand out, and provide the basis for our commentar...

La justicia interamericana de derechos humanos es un fenómeno de transnacional influencia sobre los ordenamientos jurídicos de los Estados nacionales. La creciente interacción de la Corte Interamericana con los jueces nacionales y su labor como intérprete de la Convención Americana de Derechos Humanos (CADH) ha promovido un excesivo optimismo que resulta necesario revisar críticamente en aras de una mejor comprensión de la justicia transnacional en derechos humanos. Para cumplir este cometido, el presente documento presentará las discusiones doctrinales sobre justicia, validez (...) y eficacia de la CADH a través del alcance, límites e impacto del ejercicio judicial Interamericano. (shrink)

En este texto se recoge la experiencia y el estudio realizado en el Grado de Educación Infantil del Centro Universitario Cardenal Cisneros (Madrid), ante la necesidad de mostrar a los estudiantes del 2º curso, matriculados en la asignatura “La Innovación Educativa” otra forma de aprender y enseñar, basándose en su propia experiencia. Pero para poder valorar esta experiencia, era necesario encontrar un modelo a seguir y desde el que recoger información, indagar sobre lo que ocurría en la propia aula y (...) ofrecer un proceso formativo e investigador flexible. Para ello se utilizó la metodología de la investigación-acción. (shrink)

The autosomal recessive genetic disorder, Nijmegen Breakage Syndrome, is characterised by an excessively high risk for the development of lymphatic tumours and an extreme sensitivity towards ionising radiation. The most likely explanation for these characteristics, a deficiency in the repair of DNA lesions, has been greatly substantiated by the recent cloning of the gene mutated in Nijmegen Breakage Syndrome patients and the analysis of its protein product, nibrin. The direct involvement of this protein in the processing of DNA double strand (...) breaks caused by ionising radiation and those also necessary for normal DNA metabolism can be correlated with many of the cellular and clinical aspects of the disease, including the cancer predisposition of patients and their heterozygous relatives. BioEssays 21:649–656, 1999. © 1999 John Wiley & Sons, Inc. (shrink)

What makes a human voice agreeable is a matter of scientific discussion. Whereas prosody was shown to play a role regarding “male-female” attraction, the impact of frequency modulations in “non-sexual”, notably commercial, contexts has attracted little attention. Another point unaddressed in the literature is auditory sensitivity to short-term frequency modulations as current studies focus more on sentence. Thirty French female operators were recorded over the phone. All “bonjour” greeting words were classified in terms of frequency modulation linearity and orientation at (...) the syllable and word levels. Then, the different voices were played back to students and seniors who had to rate each voice according to their degree of agreeableness. Listeners preferred non-monotonous voices. Differences between age-classes were greater than between sex-classes. Results suggest that short-term frequency changes are important for auditory evaluation of voice agreeableness. This study opens new research perspectives concerning the importance of prosody during consumer-seller interactions. (shrink)

En el mundo académico contemporáneo han venido tomando fuerza, desde hace varias décadas, los temas de la interdisciplinariedad y la transdisciplinariedad, como respuesta de un sector de la comunidad científica a los problemas de la especialización y a la desconexión entre las ciencias. Como todo elemento o aspecto de la realidad, este tema requiere de una debida fundamentación filosófica que se encuentra en el pensamiento clásico. En el presente artículo se intenta mostrar la relación entre la tradición de la filosofía (...) perenne y este fundamento, atendiendo, sobre todo, a la importancia de la mirada holística del fenómeno ético y pretendiendo sustentar que el diálogo entre las ciencias sólo es posible rescatando el paradigma metafísico, legado por los griegos a la civilización occidental y defendido por MacIntyre en su libro "Ethics in the Conflicts of Modernity. An Essay on Desire, Practical Reasoning, and Narrative" (University of Cambridge, 2016). (shrink)

Meeting 5G high bandwidth rates, ultra-low latencies, and high reliabilities requires of network infrastructures that automatically increase/decrease the resources based on their customers’ demand. An autonomous and dynamic management of a 5G network infrastructure represents a challenge, as any solution must account for the radio access network, data plane traffic, wavelength allocation, network slicing, and network functions’ orchestration. Furthermore, federation among administrative domains (ADs) must be considered in the network management. Given the increased dynamicity of 5G networks, artificial intelligence/machine learning (...) (AI/ML) solutions are strong candidates able to learn, and take quick provisioning decisions upon fast changes in network conditions. Therefore, this chapter presents an analysis of the state-of-the-art solutions for 5G networks’ management, where AI/ML solutions are discussed and compared with traditional methods. Additionally, the chapter provides a technology overview of both standards, and existing solutions regarding the 5G network management, and directions toward the integration of AI/ML in 5G networks. (shrink)

When the first edition of Pediatric Psychopharmacology published in 2002, it filled a void in child and adolescent psychiatry and quickly establishing itself as the definitive text-reference in pediatric psychopharmacology. While numerous short, clinically focused paperbacks have been published since then, no competitors with the scholarly breadth, depth, and luster of this volume have emerged. In the second edition, Christopher Kratochvil, MD, a highly respected expert in pediatric psychopharmacology, joins the outstanding editorial team led by Dr. Martin and Dr. Scahill. (...) In the new edition, the editors streamline the flow of information to reflect the growth in scientific data since the first edition appeared. The overall structure of the book remains the same, with major sections on underlying biology; somatic interventions; assessment and treatment; and special considerations. (shrink)

Our reasoning evolved not for finding the truth, but for social bonding and convincing. This book highlights the consequences of these facts for scientific practice, and suggests how to correct the mistakes we still make.

Dans Logique du pire, Clément Rosset analyse une causalité conçue sans l’ombre d’une loi transcendantale, qui se fait par l’enchaînement des choses dans l’immanence actuelle. Rosset aperçoit cette causalité immanente dans la psychanalyse de Freud, non dans le concept lacanien du réel. Une telle conception de la causation recoupe celle du hasard, qui indique que les choses sont, tout simplement, sans raison d’être – ce en quoi consiste le tragique. Dans toute l’histoire de la philosophie, le philosophe qui a le (...) plus radicalement compris ce qu’est le hasard fut paradoxalement celui qui le définit comme nécessité absolue : Spinoza, « penseur tragique par excellence ». Nous énonçons et analysons les implications épistémiques et thérapeutiques qui découlent de cette compréhension. (shrink)

By a theorem of R. Kaye, J. Paris and C. Dimitracopoulos, the class of the Πn+1-sentences true in the standard model is the only consistent Πn+1-theory which extends the scheme of induction for parameter free Πn+1-formulas. Motivated by this result, we present a systematic study of extensions of bounded quantifier complexity of fragments of first-order Peano Arithmetic. Here, we improve that result and show that this property describes a general phenomenon valid for parameter free schemes. As a consequence, we obtain (...) results on the quantifier complexity, finite axiomatizability and relative strength of schemes for Δn+1-formulas. (shrink)

Let T be a second-order arithmetical theory, Λ a well-order, λ < Λ and X ⊆ ℕ. We use $[\lambda |X]_T^{\rm{\Lambda }}\varphi$ as a formalization of “φ is provable from T and an oracle for the set X, using ω-rules of nesting depth at most λ”.For a set of formulas Γ, define predicative oracle reflection for T over Γ ) to be the schema that asserts that, if X ⊆ ℕ, Λ is a well-order and φ ∈ Γ, then$$\forall \,\lambda (...) < {\rm{\Lambda }}\,.$$In particular, define predicative oracle consistency ) as Pred–O–RFN{0=1}.Our main result is as follows. Let ATR0 be the second-order theory of Arithmetical Transfinite Recursion, ${\rm{RCA}}_0^{\rm{*}}$ be Weakened Recursive Comprehension and ACA be Arithmetical Comprehension with Full Induction. Then,$${\rm{ATR}}_0 \equiv {\rm{RCA}}_0^{\rm{*}} + {\rm{Pred - O - Cons\ }}\left \equiv {\rm{RCA}}_0^{\rm{*}} + \,{\rm{Pred - O - Cons\ }}\left \equiv {\rm{RCA}}_0^{\rm{*}} + \,{\rm{Pred - O - RFN}}\,_{{\bf{\Pi }}_2^1 } \left.$$We may even replace ${\rm{RCA}}_0^{\rm{*}}$ by the weaker ECA0, the second-order analogue of Elementary Arithmetic.Thus we characterize ATR0, a theory often considered to embody Predicative Reductionism, in terms of strong reflection and consistency principles. (shrink)

The pattern of ups and downs in a sequence with varying pitch can be heard as a melodic contour. Contrary to single pitch, the neural representation of melodic contour information in the auditory cortex is rarely investigated, and it is not clear whether the processing entails a hemispheric asymmetry. The present magnetoencephalography study assessed the neuromagnetic responses of N = 18 normal-hearing adults to four-note sequences with fixed vs. varying pitch that were presented either monaurally or diotically; data were analyzed (...) using minimum-norm reconstructions. The first note of the sequences elicited prominent transient activity in posterior auditory regions (Planum temporale), especially contralateral to the ear of entry. In contrast, the response to the subsequent notes originated from more anterior areas (Planum polare) and was larger for melodic contours than for fixed pitch sequences, independent from the ear of entry and without hemispheric asymmetry. Together, the results point to a gradient in the early cortical processing of melodic contours, both in spatial and functional terms, where posterior auditory activity reflects the onset of a pitch sequence and anterior activity reflects its subsequent notes, including the difference between sequences with fixed pitch and melodic contours. (shrink)