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14. L'Eristique: Définitions, caractérisations, historicité

Author

Delcomminette, Sylvain and Lachance, Geneviève

Subjects
Philosophie
Abstract

L’éristique demeure un sujet de controverse. Dès l’Antiquité, les experts ne s’entendaient pas sur son statut épistémologique. Est-elle une forme de sophistique, comme le suggère Platon, ou une propédeutique à la philosophie, comme le laisse entendre Isocrate ?En quoi se distingue-t-elle de la dialectique, plus précisément de l’antilogique éléatique ?Ses origines sont également un sujet de discorde. Protagoras apparaît comme son inventeur le plus probable ;pourtant, on ne retrouve aucune occurrence du terme dans les textes antérieurs au IVe siècle avant notre ère. Qu’est-ce que l’éristique ?En quoi consiste-t-elle et quels éléments ont contribué à son développement ?Telles sont quelques-unes des questions auxquelles les contributeurs du présent volume ont cherché à répondre, offrant ainsi la première étude systématique de ce mouvement philosophique encore mal connu.Contributions :Aldo Brancacci, Paolo Crivelli, Louis-André Dorion, Dimitri El Murr, Paolo Fait, Marc-Antoine Gavray, Jean-Baptiste Gourinat, Geneviève Lachance, Juliette Lemaire, Francesca Pentassuglio, Nicolas Zaks, info:eu-repo/semantics/published

Published
2021

15. L'éristique : définitions, caractérisations et historicité

Author

Delcomminette, Sylvain and Lachance, Geneviève

Subjects
Philosophy and Religion
Abstract

L’éristique demeure un sujet de controverse. Dès l’Antiquité, les experts ne s’entendaient pas sur son statut épistémologique. Est-elle une forme de sophistique, comme le suggère Platon, ou une propédeutique à la philosophie, comme le laisse entendre Isocrate ? En quoi se distingue-t-elle de la dialectique, plus précisément de l’antilogique éléatique ? Ses origines sont également un sujet de discorde. Protagoras apparaît comme son inventeur le plus probable ; pourtant, on ne retrouve aucune occurrence du terme dans les textes antérieurs au IVe siècle avant notre ère. Qu’est-ce que l’éristique ? En quoi consiste-t-elle et quels éléments ont contribué à son développement ? Telles sont quelques-unes des questions auxquelles les contributeurs du présent volume ont cherché à répondre, offrant ainsi la première étude systématique de ce mouvement philosophique encore mal connu.

Published
2021

21. Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies

Author

Fortier, Isabel, Burton, Paul R, Robson, Paula J, Ferretti, Vincent, Little, Julian, L’Heureux, Francois, Deschênes, Mylène, Knoppers, Bartha M, Doiron, Dany, Keers, Joost C, Linksted, Pamela, Harris, Jennifer R, Lachance, Geneviève, Boileau, Catherine, Pedersen, Nancy L, Hamilton, Carol M, Hveem, Kristian, Borugian, Marilyn J, Gallagher, Richard P, McLaughlin, John, Parker, Louise, Potter, John D, Gallacher, John, Kaaks, Rudolf, Liu, Bette, Sprosen, Tim, Vilain, Anne, Atkinson, Susan A, Rengifo, Andrea, Morton, Robin, Metspalu, Andres, Wichmann, H Erich, Tremblay, Mark, Chisholm, Rex L, Garcia-Montero, Andrés, Hillege, Hans, Litton, Jan-Eric, Palmer, Lyle J, Perola, Markus, Wolffenbuttel, Bruce HR, Peltonen, Leena, and Hudson, Thomas J

Published
2010
Full Text
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22. Genetic and environmental effects on body mass index from infancy to the onset of adulthood : an individual-based pooled analysis of 45 twin cohorts participating in the CODATwins study

Author

Silventoinen, Karri, Lachance, Geneviève, Jelenkovic, Aline, Boivin, Michel, Sund, Reijo, Fradette, Catherine, Hur, Yoon-Mi, Dionne, Ginette, Yokoyama, Yoshie, Dubois, Lise, Honda, Chika, Hjelmborg, Jacob B., Möller, Sören, Ooki, Syuichi, Aaltonen, Sari, Fuling, Ji, Duncan, Glen E., Buchwald, Dedra, Willemsen, Gonneke, Rasmussen, Finn, Goldberg, Jack H., Sørensen, Thorkild I. A., Boomsma, Dorret I., Kaprio, Jaakko, Ning, Feng, Pang, Zengchang, Rebato, Esther, Busjahn, Andreas, Kandler, Christian, Saudino, Kimberly Jane, Jang, Kerry L., Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Gao, Wenjing, Yu, Canqing, Li, Liming, Corley, Robin, Huibregtse, Brooke M., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O., Vlietinck, Robert, Loos, Ruth, Heikkilä, Kauko, Wardle, Jane, Llewellyn, Clare H., Fisher, Abigail, McAdams, Tom A., Eley, Thalia C., Gregory, Alice M., He, Mingguang, Ding, Xiaohu, Bjerregaard-Andersen, Morten, Beck-Nielsen, Henning, Sodemann, Morten, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Stazi, Maria Antonietta, Fagnani, Corrado, D'Ippolito, Cristina, Knafo-Noam, Ariel, Mankuta, David, Abramson, Lior, Burt, S. Alexandra, Klump, Kelly L., Silberg, Judy L., Eaves, L. J., Maes, Hermine H., Krueger, Robert F., McGue, Matthew, Pahlen, Shandell, Gatz, Margaret, Butler, David A., Bartels, Meike, Beijsterveldt, C. E. M. van, Craig, Jeffrey M., Saffery, Richard, Freitas, Duarte L., Maia, José António, Brendgen, Mara Rosemarie, Vitaro, Frank, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Chong, Youngsook, Swan, Gary E., Krasnow, Ruth, Magnusson, Patrik, Pedersen, Nancy L., Tynelius, Per, Lichtenstein, Paul, Haworth, Claire M. A., Plomin, Robert, Bayasgalan, Gombojav, Narandalai, Danshiitsoodol, Harden, K. Paige, Tucker-Drob, Elliot Max, Öncel, Sevgi Y., Aliev, Fazil, Spector, T. D., Mangino, Massimo, Baker, Laura Ann, Tuvblad, Catherine, Silventoinen, Karri, Lachance, Geneviève, Jelenkovic, Aline, Boivin, Michel, Sund, Reijo, Fradette, Catherine, Hur, Yoon-Mi, Dionne, Ginette, Yokoyama, Yoshie, Dubois, Lise, Honda, Chika, Hjelmborg, Jacob B., Möller, Sören, Ooki, Syuichi, Aaltonen, Sari, Fuling, Ji, Duncan, Glen E., Buchwald, Dedra, Willemsen, Gonneke, Rasmussen, Finn, Goldberg, Jack H., Sørensen, Thorkild I. A., Boomsma, Dorret I., Kaprio, Jaakko, Ning, Feng, Pang, Zengchang, Rebato, Esther, Busjahn, Andreas, Kandler, Christian, Saudino, Kimberly Jane, Jang, Kerry L., Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Gao, Wenjing, Yu, Canqing, Li, Liming, Corley, Robin, Huibregtse, Brooke M., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O., Vlietinck, Robert, Loos, Ruth, Heikkilä, Kauko, Wardle, Jane, Llewellyn, Clare H., Fisher, Abigail, McAdams, Tom A., Eley, Thalia C., Gregory, Alice M., He, Mingguang, Ding, Xiaohu, Bjerregaard-Andersen, Morten, Beck-Nielsen, Henning, Sodemann, Morten, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Stazi, Maria Antonietta, Fagnani, Corrado, D'Ippolito, Cristina, Knafo-Noam, Ariel, Mankuta, David, Abramson, Lior, Burt, S. Alexandra, Klump, Kelly L., Silberg, Judy L., Eaves, L. J., Maes, Hermine H., Krueger, Robert F., McGue, Matthew, Pahlen, Shandell, Gatz, Margaret, Butler, David A., Bartels, Meike, Beijsterveldt, C. E. M. van, Craig, Jeffrey M., Saffery, Richard, Freitas, Duarte L., Maia, José António, Brendgen, Mara Rosemarie, Vitaro, Frank, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Chong, Youngsook, Swan, Gary E., Krasnow, Ruth, Magnusson, Patrik, Pedersen, Nancy L., Tynelius, Per, Lichtenstein, Paul, Haworth, Claire M. A., Plomin, Robert, Bayasgalan, Gombojav, Narandalai, Danshiitsoodol, Harden, K. Paige, Tucker-Drob, Elliot Max, Öncel, Sevgi Y., Aliev, Fazil, Spector, T. D., Mangino, Massimo, Baker, Laura Ann, and Tuvblad, Catherine

Abstract

BACKGROUND: Both genetic and environmental factors are known to affect body mass index (BMI), but detailed understanding of how their effects differ during childhood and adolescence is lacking. OBJECTIVES: We analyzed the genetic and environmental contributions to BMI variation from infancy to early adulthood and the ways they differ by sex and geographic regions representing high (North America and Australia), moderate (Europe), and low levels (East Asia) of obesogenic environments. DESIGN: Data were available for 87,782 complete twin pairs from 0.5 to 19.5 y of age from 45 cohorts. Analyses were based on 383,092 BMI measurements. Variation in BMI was decomposed into genetic and environmental components through genetic structural equation modeling. RESULTS: The variance of BMI increased from 5 y of age along with increasing mean BMI. The proportion of BMI variation explained by additive genetic factors was lowest at 4 y of age in boys (a(2) = 0.42) and girls (a(2) = 0.41) and then generally increased to 0.75 in both sexes at 19 y of age. This was because of a stronger influence of environmental factors shared by co-twins in midchildhood. After 15 y of age, the effect of shared environment was not observed. The sex-specific expression of genetic factors was seen in infancy but was most prominent at 13 y of age and older. The variance of BMI was highest in North America and Australia and lowest in East Asia, but the relative proportion of genetic variation to total variation remained roughly similar across different regions. CONCLUSIONS: Environmental factors shared by co-twins affect BMI in childhood, but little evidence for their contribution was found in late adolescence. Our results suggest that genetic factors play a major role in the variation of BMI in adolescence among populations of different ethnicities exposed to different environmental factors related to obesity.

Published
2017

24. La conception platonicienne de la contradiction

Author

Lachance, Geneviève, Dorion, Louis-André, and Gourinat, Jean-Baptiste

Subjects
Ancient logic, Principe de non-contradiction, Contradiction, Elenchus, Antilogic, Antilogique, Principle of non-contradiction, Réfutation, Elenchos, Platon, Logique ancienne, Plato
Abstract

Cette thèse se rapporte à la notion de contradiction, entendue en son sens logique ou formel. Plus précisément, elle vise à dégager une conception de la contradiction chez un philosophe qui, du point de vue chronologique, précède l’avènement de la syllogistique et de la logique : Platon. À partir de l’examen des dialogues réfutatifs de Platon, il s’agira de mettre en lumière la forme des propositions contradictoires, de déterminer la terminologie et les métaphores utilisées par Platon pour nommer et décrire la contradiction et d’évaluer le contexte dans lequel avait lieu la réflexion platonicienne. L’analyse révélera que Platon se faisait une idée somme toute assez précise de la contradiction logique et qu’il a même eu une influence sur Aristote lorsque ce dernier élabora son célèbre principe de non-contradiction., This thesis examines the notion of contradiction understood in its logical or formal sense. Specifically, it seeks to study that notion in a philosopher who, chronologically speaking, precedes the advent of syllogistic or logic: Plato. Based on an analysis of Plato’s refutative dialogues, this thesis will determine the form given by Plato to contradictory propositions, unveil the terminology and metaphors used by Plato to name and describe contradictions and evaluate the context in which Plato reflected upon contradiction. The analysis will reveal that Plato had a very clear idea of what is a logical contradiction and that he even had an influence on Aristotle when the latter defined his famous principle of non-contradiction.

Published
2015

25. Genetic and environmental effects on body mass index from infancy to the onset of adulthood : an individual-based pooled analysis of 45 twin cohorts participating in the CODATwins study

Author

Silventoinen, Karri, Jelenkovic, Aline, Sund, Reijo, Hur, Yoon-Mi, Yokoyama, Yoshie, Honda, Chika, Hjelmborg, Jacob B., Möller, Sören, Ooki, Syuichi, Aaltonen, Sari, Fuling, Ji, Duncan, Glen E., Buchwald, Dedra, Willemsen, Gonneke, Rasmussen, Finn, Goldberg, Jack H., Sørensen, Thorkild I. A., Boomsma, Dorret I., Kaprio, Jaakko, Ning, Feng, Pang, Zengchang, Rebato, Esther, Busjahn, Andreas, Kandler, Christian, Saudino, Kimberly Jane, Jang, Kerry L., Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Gao, Wenjing, Yu, Canqing, Li, Liming, Corley, Robin, Huibregtse, Brooke M., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O., Derom, Catherine, Vlietinck, Robert, Loos, Ruth, Heikkilä, Kauko, Wardle, Jane, Llewellyn, Clare H., Fisher, Abigail, McAdams, Tom A., Eley, Thalia C., Gregory, Alice M., He, Mingguang, Ding, Xiaohu, Bjerregaard-Andersen, Morten, Beck-Nielsen, Henning, Sodemann, Morten, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Stazi, Maria Antonietta, Fagnani, Corrado, D'Ippolito, Cristina, Knafo-Noam, Ariel, Mankuta, David, Abramson, Lior, Burt, S. Alexandra, Klump, Kelly L., Silberg, Judy L., Eaves, L. J., Maes, Hermine H., Krueger, Robert F., McGue, Matthew, Pahlen, Shandell, Gatz, Margaret, Butler, David A., Bartels, Meike, Beijsterveldt, C. E. M. van, Craig, Jeffrey M., Saffery, Richard, Freitas, Duarte L., Maia, José António, Dubois, Lise, Boivin, Michel, Brendgen, Mara Rosemarie, Dionne, Ginette, Vitaro, Frank, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Chong, Youngsook, Swan, Gary E., Krasnow, Ruth, Magnusson, Patrik, Pedersen, Nancy L., Tynelius, Per, Lichtenstein, Paul, Haworth, Claire M. A., Plomin, Robert, Bayasgalan, Gombojav, Narandalai, Danshiitsoodol, Harden, K. Paige, Tucker-Drob, Elliot Max, Öncel, Sevgi Y., Aliev, Fazil, Spector, T. D., Mangino, Massimo, Lachance, Geneviève, Baker, Laura Ann, Tuvblad, Catherine, Silventoinen, Karri, Jelenkovic, Aline, Sund, Reijo, Hur, Yoon-Mi, Yokoyama, Yoshie, Honda, Chika, Hjelmborg, Jacob B., Möller, Sören, Ooki, Syuichi, Aaltonen, Sari, Fuling, Ji, Duncan, Glen E., Buchwald, Dedra, Willemsen, Gonneke, Rasmussen, Finn, Goldberg, Jack H., Sørensen, Thorkild I. A., Boomsma, Dorret I., Kaprio, Jaakko, Ning, Feng, Pang, Zengchang, Rebato, Esther, Busjahn, Andreas, Kandler, Christian, Saudino, Kimberly Jane, Jang, Kerry L., Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Gao, Wenjing, Yu, Canqing, Li, Liming, Corley, Robin, Huibregtse, Brooke M., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O., Derom, Catherine, Vlietinck, Robert, Loos, Ruth, Heikkilä, Kauko, Wardle, Jane, Llewellyn, Clare H., Fisher, Abigail, McAdams, Tom A., Eley, Thalia C., Gregory, Alice M., He, Mingguang, Ding, Xiaohu, Bjerregaard-Andersen, Morten, Beck-Nielsen, Henning, Sodemann, Morten, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Stazi, Maria Antonietta, Fagnani, Corrado, D'Ippolito, Cristina, Knafo-Noam, Ariel, Mankuta, David, Abramson, Lior, Burt, S. Alexandra, Klump, Kelly L., Silberg, Judy L., Eaves, L. J., Maes, Hermine H., Krueger, Robert F., McGue, Matthew, Pahlen, Shandell, Gatz, Margaret, Butler, David A., Bartels, Meike, Beijsterveldt, C. E. M. van, Craig, Jeffrey M., Saffery, Richard, Freitas, Duarte L., Maia, José António, Dubois, Lise, Boivin, Michel, Brendgen, Mara Rosemarie, Dionne, Ginette, Vitaro, Frank, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Chong, Youngsook, Swan, Gary E., Krasnow, Ruth, Magnusson, Patrik, Pedersen, Nancy L., Tynelius, Per, Lichtenstein, Paul, Haworth, Claire M. A., Plomin, Robert, Bayasgalan, Gombojav, Narandalai, Danshiitsoodol, Harden, K. Paige, Tucker-Drob, Elliot Max, Öncel, Sevgi Y., Aliev, Fazil, Spector, T. D., Mangino, Massimo, Lachance, Geneviève, Baker, Laura Ann, and Tuvblad, Catherine

Abstract

BACKGROUND: Both genetic and environmental factors are known to affect body mass index (BMI), but detailed understanding of how their effects differ during childhood and adolescence is lacking. OBJECTIVES: We analyzed the genetic and environmental contributions to BMI variation from infancy to early adulthood and the ways they differ by sex and geographic regions representing high (North America and Australia), moderate (Europe), and low levels (East Asia) of obesogenic environments. DESIGN: Data were available for 87,782 complete twin pairs from 0.5 to 19.5 y of age from 45 cohorts. Analyses were based on 383,092 BMI measurements. Variation in BMI was decomposed into genetic and environmental components through genetic structural equation modeling. RESULTS: The variance of BMI increased from 5 y of age along with increasing mean BMI. The proportion of BMI variation explained by additive genetic factors was lowest at 4 y of age in boys (a(2) = 0.42) and girls (a(2) = 0.41) and then generally increased to 0.75 in both sexes at 19 y of age. This was because of a stronger influence of environmental factors shared by co-twins in midchildhood. After 15 y of age, the effect of shared environment was not observed. The sex-specific expression of genetic factors was seen in infancy but was most prominent at 13 y of age and older. The variance of BMI was highest in North America and Australia and lowest in East Asia, but the relative proportion of genetic variation to total variation remained roughly similar across different regions. CONCLUSIONS: Environmental factors shared by co-twins affect BMI in childhood, but little evidence for their contribution was found in late adolescence. Our results suggest that genetic factors play a major role in the variation of BMI in adolescence among populations of different ethnicities exposed to different environmental factors related to obesity.

Published
2016

29. L'antilogicien ou l'ennemi de la philosophie véritable.

Author

Lachance, Geneviève

Abstract

One of Plato's goal in the Phaedo is not only to define what philosophy is, but also to describe what 'real' or 'authentic' philosophy consists of. This description of 'authentic' philosophy reveals a tension. Indeed, if Socrates feels the need to speak of a genuine philosophy, is it not a sign that there is another type of philosophy, which is inauthentic and fake ? If Plato emphasizes the legitimacy of some philosophers, is it not because he believes that there are others, who resemble the former but are a mere imitation of them ? In fact, there is in the Phaedo an implicit description of 'false' philosophers, which culminates with the presentation of a precise case: the antilogician. Sometimes called a sophist, often described as an eristic, the antilogician is a perfect example of philosophy gone wrong. Criticised more than once in his dialogues, Plato condemns vivaciously the antilogician as he diverts real philosophical inquiry and immerses people in absolute relativism. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
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30. Elenchos standard : le cas négligé de l’Alcibiade

Author

Lachance, Geneviève and Dorion, Louis-André

Subjects
Alcibiades, Philosophy, Vlastos, Elenchus, Dialectic, Elenchos, Réfutation, Philosophie, Platon, Refutation, Dialectique, Alcibiade, Plato
Abstract

Depuis une trentaine d’années environ, les études sur la réfutation, ou elenchos (ἔλεγχος), se sont multipliées. Cet engouement n’est pas étranger à la publication d’un article de Gregory Vlastos, intitulé « The Socratic Elenchus », dans lequel sont abordées des thèses qui tranchent avec les théories généralement acceptées jusqu’alors. Or, il est intéressant de noter que Vlastos a complètement écarté l’Alcibiade de son étude, le jugeant apocryphe, et ce, même si les arguments apportés par les tenants de l'inauthenticité de l'Alcibiade sont loin d'être convaincants. Dans le cadre de ce mémoire, nous comptons mener une analyse détaillée du texte de Vlastos et de l’Alcibiade, en nous attachant particulièrement aux questions suivantes : qu’est-ce que l’Alcibiade nous dit de l’elenchos? Que nous apprend-il de nouveau? En quoi ces révélations originales viennent-elles invalider ou confirmer les théories de Vlastos ou notre conception traditionnelle de la réfutation socratique? Le premier chapitre s’intéressera principalement aux thèses présentées dans la dernière version de « The Socratic Elenchus », parue en 1994 dans Socratic Studies. Nous en ferons un résumé critique et nous intéresserons aux réactions de différents commentateurs. Le deuxième chapitre se concentrera quant à lui sur l’Alcibiade. Nous proposerons une analyse de ce dialogue en nous concentrant principalement sur le thème de l’elenchos, puis confronterons les principales thèses de Vlastos aux résultats de notre analyse. Notre mémoire montrera que la description de l'elenchos donnée par Vlastos ne correspond pas à celle fournie dans l’Alcibiade., For about thirty years, studies on refutation, or elenchus (ἔλεγχος), have multiplied. This interest has been stimulated by the publication of an article by Gregory Vlastos, The Socratic Elenchus, in which an original and controversial theory of the elenchus is presented. It is interesting to note, however, that Vlastos rejected Plato’s Greater Alcibiades from his study, judging it inauthentic, even though the arguments presented by the supporters of its inauthenticity are rather unconvincing. In this master’s thesis, a detailed analysis of Vlastos’ article and the Greater Alcibiades will be conducted. Special attention will be given to the following questions: what the Greater Alcibiades can tell us on the elenchus? Can it tell us something new? If so, will this new knowledge confirm or invalidate the theories of Vlastos or the traditional conception of Socratic refutation? The first chapter focuses on the thesis presented in the last version of the article “The Socratic Elenchus”, published in 1994 in Socratic Studies. A critical summary of the article shall then be presented in addition to an exposition of the reactions of various commentators. The second chapter will focus on the Greater Alcibiades. An analysis of this dialogue, more precisely of the elenchus, is conducted as well as a comparison of Vlastos’ principal thesis with the results of our analysis. This master’s thesis will show that the Greater Alcibiades provides a description of the elenchus that does not concur with Vlastos’ conception.

Published
2011

31. La querelle des universaux : analyse comparative de l’Isagôgè et du Commentaire aux Catégories d’Aristote de Porphyre

Author

Lachance, Geneviève and Université de Montréal. Faculté des arts et des sciences. Département de philosophie

Abstract

Le présent article propose une analyse comparative de l’Isagôgè et du Commentaire aux Catégories d’Aristote de Porphyre. Il s’agira de déterminer si le Commentaire aux Catégories d’Aristote permet de jeter quelque lumière sur le questionnaire porphyrien ou de trancher le débat qui a mené à la célèbre querelle des universaux.

Published
2011

32. Elenchos standard : le cas négligé de l’Alcibiade

Author

Dorion, Louis-André, Lachance, Geneviève, Dorion, Louis-André, and Lachance, Geneviève

Abstract

Depuis une trentaine d’années environ, les études sur la réfutation, ou elenchos (ἔλεγχος), se sont multipliées. Cet engouement n’est pas étranger à la publication d’un article de Gregory Vlastos, intitulé « The Socratic Elenchus », dans lequel sont abordées des thèses qui tranchent avec les théories généralement acceptées jusqu’alors. Or, il est intéressant de noter que Vlastos a complètement écarté l’Alcibiade de son étude, le jugeant apocryphe, et ce, même si les arguments apportés par les tenants de l'inauthenticité de l'Alcibiade sont loin d'être convaincants. Dans le cadre de ce mémoire, nous comptons mener une analyse détaillée du texte de Vlastos et de l’Alcibiade, en nous attachant particulièrement aux questions suivantes : qu’est-ce que l’Alcibiade nous dit de l’elenchos? Que nous apprend-il de nouveau? En quoi ces révélations originales viennent-elles invalider ou confirmer les théories de Vlastos ou notre conception traditionnelle de la réfutation socratique? Le premier chapitre s’intéressera principalement aux thèses présentées dans la dernière version de « The Socratic Elenchus », parue en 1994 dans Socratic Studies. Nous en ferons un résumé critique et nous intéresserons aux réactions de différents commentateurs. Le deuxième chapitre se concentrera quant à lui sur l’Alcibiade. Nous proposerons une analyse de ce dialogue en nous concentrant principalement sur le thème de l’elenchos, puis confronterons les principales thèses de Vlastos aux résultats de notre analyse. Notre mémoire montrera que la description de l'elenchos donnée par Vlastos ne correspond pas à celle fournie dans l’Alcibiade., For about thirty years, studies on refutation, or elenchus (ἔλεγχος), have multiplied. This interest has been stimulated by the publication of an article by Gregory Vlastos, The Socratic Elenchus, in which an original and controversial theory of the elenchus is presented. It is interesting to note, however, that Vlastos rejected Plato’s Greater Alcibiades from his study, judging it inauthentic, even though the arguments presented by the supporters of its inauthenticity are rather unconvincing. In this master’s thesis, a detailed analysis of Vlastos’ article and the Greater Alcibiades will be conducted. Special attention will be given to the following questions: what the Greater Alcibiades can tell us on the elenchus? Can it tell us something new? If so, will this new knowledge confirm or invalidate the theories of Vlastos or the traditional conception of Socratic refutation? The first chapter focuses on the thesis presented in the last version of the article “The Socratic Elenchus”, published in 1994 in Socratic Studies. A critical summary of the article shall then be presented in addition to an exposition of the reactions of various commentators. The second chapter will focus on the Greater Alcibiades. An analysis of this dialogue, more precisely of the elenchus, is conducted as well as a comparison of Vlastos’ principal thesis with the results of our analysis. This master’s thesis will show that the Greater Alcibiades provides a description of the elenchus that does not concur with Vlastos’ conception.

Published
2011

37. Mathematical modeling and experimental testing of three bioreactor configurations based on windkessel models.

Author

Ruel, Jean and Lachance, Geneviève

Subjects
*MATHEMATICAL models, *BIOREACTORS, *HEART valves, *TISSUE engineering, *PHYSIOLOGY, *BIOMEDICAL engineering
Abstract

This paper presents an experimental study of three bioreactor configurations. The bioreactor is intended to be used for the development of tissue-engineered heart valve substitutes. Therefore it must be able to reproduce physiological flow and pressure waveforms accurately. A detailed analysis of three bioreactor arrangements is presented using mathematical models based on the windkessel (WK) approach. First, a review of the many applications of this approach in medical studies enhances its fundamental nature and its usefulness. Then the models are developed with reference to the actual components of the bioreactor. This study emphasizes different conflicting issues arising in the design process of a bioreactor for biomedical purposes, where an optimization process is essential to to reach a compromise satisfying all conditions. Two important aspects are the need for a simple system providing ease of use and long-term sterility, opposed to the need for an advanced (thus more complex) architecture capable of a more accurate reproduction of the physiological environment. Three classic WK architectures are analyzed, and experimental results enhance the advantages and limitations of each one. [ABSTRACT FROM AUTHOR]

Published
2010
Full Text
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38. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Author

Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Al Turki, Saeed, Amuzu, Antoinette, Anderson, Carl A., Anney, Richard, Antony, Dinu, Artigas, María Soler, Ayub, Muhammad, Bala, Senduran, Barrett, Jeffrey C., Barroso, Inês, Beales, Phil, Benn, Marianne, Bentham, Jamie, Bhattacharya, Shoumo, Birney, Ewan, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick F., Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Pablo Casas, Juan, Chambers, John C., Charlton, Ruth, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebahattin, Clapham, Peter, Clement, Gail, Coates, Guy, Cocca, Massimiliano, Collier, David A., Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Day, Ian N. M., Day-Williams, Aaron, Dedoussis, George, Down, Thomas, Du, Yuanping, van Duijn, Cornelia M., Dunham, Ian, Edkins, Sarah, Ekong, Rosemary, Ellis, Peter, Evans, David M., Farooqi, I. Sadaf, Fitzpatrick, David R., Flicek, Paul, Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise, Gasparini, Paolo, Gaunt, Tom R., Geihs, Matthias, Geschwind, Daniel, Greenwood, Celia, Griffin, Heather, Grozeva, Detelina, Guo, Xiaosen, Guo, Xueqin, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey E., Holmans, Peter, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro, Iotchkova, Valentina, Isaacs, Aaron, Jackson, David K., Jamshidi, Yalda, Johnson, Jon, Joyce, Chris, Karczewski, Konrad J., Kaye, Jane, Keane, Thomas, Kemp, John P., Kennedy, Karen, Kent, Alastair, Keogh, Julia, Khawaja, Farrah, Kleber, Marcus E., van Kogelenberg, Margriet, Kolb-Kokocinski, Anja, Kooner, Jaspal S., Lachance, Genevieve, Langenberg, Claudia, Langford, Cordelia, Lawson, Daniel, Lee, Irene, van Leeuwen, Elisabeth M., Lek, Monkol, Li, Rui, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Lönnqvist, Jouko, Lopes, Luis R., Lopes, Margarida, Luan, Jian'an, MacArthur, Daniel G., Mangino, Massimo, Marenne, Gaëlle, März, Winfried, Maslen, John, Matchan, Angela, Mathieson, Iain, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew, Metrustry, Sarah, Migone, Nicola, Mitchison, Hannah M., Moayyeri, Alireza, Morris, James, Morris, Richard, Muddyman, Dawn, Muntoni, Francesco, Nordestgaard, Børge G., Northstone, Kate, O'Donovan, Michael C., O'Rahilly, Stephen, Onoufriadis, Alexandros, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Payne, Stewart J., Perry, John R. B., Pietilainen, Olli, Plagnol, Vincent, Pollitt, Rebecca C., Povey, Sue, Quail, Michael A., Quaye, Lydia, Raymond, Lucy, Rehnström, Karola, Ridout, Cheryl K., Ring, Susan, Ritchie, Graham R. S., Roberts, Nicola, Robinson, Rachel L., Savage, David B., Scambler, Peter, Schiffels, Stephan, Schmidts, Miriam, Schoenmakers, Nadia, Scott, Richard H., Scott, Robert A., Semple, Robert K., Serra, Eva, Sharp, Sally I., Shaw, Adam, Shihab, Hashem A., Shin, So-Youn, Skuse, David, Small, Kerrin S., Smee, Carol, Smith, George Davey, Southam, Lorraine, Spasic-Boskovic, Olivera, Spector, Timothy D., St Clair, David, St Pourcain, Beate, Stalker, Jim, Stevens, Elizabeth, Sun, Jianping, Surdulescu, Gabriela, Suvisaari, Jaana, Syrris, Petros, Tachmazidou, Ioanna, Taylor, Rohan, Tian, Jing, Tobin, Martin D., Toniolo, Daniela, Traglia, Michela, Tybjaerg-Hansen, Anne, Valdes, Ana M., Vandersteen, Anthony M., Varbo, Anette, Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T. R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Eleanor, Whincup, Peter, Whyte, Tamieka, Williams, Hywel J., Williamson, Kathleen A., Wilson, Crispian, Wilson, Scott G., Wong, Kim, Xu, ChangJiang, Yang, Jian, Zaza, Gianluigi, Zeggini, Eleftheria, Zhang, Feng, Zhang, Pingbo, Zhang, Weihua, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, and Soranzo, Nicole

Abstract

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants.

Published
2015
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39. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Author

Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B., Al-Turki, Saeed, Anderson, Carl, Anney, Richard, Antony, Dinu, Asimit, Jennifer, Ayub, Mohammad, Barrett, Jeff, Barroso, Inês, Bentham, Jamie, Bhattacharya, Shoumo, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick, Boustred, Chris, Breen, Gerome, Brion, Marie-Jo, Brown, Andrew, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Chen, Lu, Cirak, Sebhattin, Clapham, Peter, Clement, Gail, Coates, Guy, Collier, David, Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Daly, Allan, Danecek, Petr, Smith, George Davey, Day-Williams, Aaron, Day, Ian, Durbin, Richard, Edkins, Sarah, Ellis, Peter, Evans, David, Farooqi, I. Sadaf, Fatemifar, Ghazaleh, Fitzpatrick, David, Flicek, Paul, Floyd, Jamie, Foley, A. Reghan, Franklin, Chris, Futema, Marta, Gallagher, Louise, Gaunt, Tom, Geschwind, Daniel, Greenwood, Celia, Grozeva, Detelina, Guo, Xiaosen, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey, Holmans, Peter, Huang, Jie, Humphries, Steve E., Hurles, Matt, Hysi, Pirro, Jackson, David, Jamshidi, Yalda, Jewell, David, Chris, Joyce, Kaye, Jane, Keane, Thomas, Kemp, John, Kennedy, Karen, Kent, Alastair, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lee, Irene, Li, Rui, Li, Yingrui, Ryan, Liu, Lönnqvist, Jouko, Lopes, Margarida, MacArthur, Daniel G., Massimo, Mangino, Marchini, Jonathan, Maslen, John, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew, McKechanie, Andrew, McQuillin, Andrew, Memari, Yasin, Metrustry, Sarah, Min, Josine, Moayyeri, Alireza, Morris, James, Muddyman, Dawn, Muntoni, Francesco, Northstone, Kate, O'Donovan, Michael, O'Rahilly, Stephen, Onoufriadis, Alexandros, Oualkacha, Karim, Owen, Michael, Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy, Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Perry, John, Pietilainen, Olli, Plagnol, Vincent, Quail, Michael A., Quaye, Lydia, Raymond, Lucy, Rehnström, Karola, Brent Richards, J., Ring, Sue, Ritchie, Graham R S, Savage, David B., Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Shihab, Hashem, Shin, So-Youn, Skuse, David, Small, Kerrin, Smee, Carol, Soler, Artigas María, Soranzo, Nicole, Southam, Lorraine, Spector, Tim, St Pourcain, Beate, St. Clair, David, Stalker, Jim, Surdulescu, Gabriela, Suvisaari, Jaana, Tachmazidou, Ioanna, Tian, Jing, Timpson, Nic, Tobin, Martin, Valdes, Ana, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Wain, Louise, Walter, Klaudia, Wang, Jun, Ward, Kirsten, Wheeler, Ellie, Whittall, Ros, Williams, Hywel, Williamson, Kathy, Wilson, Scott G., Wong, Kim, Whyte, Tamieka, ChangJiang, Xu, Zeggini, Eleftheria, Zhang, Feng, and Zheng, Hou-Feng

Abstract

The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.

Published
2015
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40. Whole-genome sequence-based analysis of thyroid function

Author

Taylor, Peter N., Porcu, Eleonora, Chew, Shelby, Campbell, Purdey J., Traglia, Michela, Brown, Suzanne J., Mullin, Benjamin H., Shihab, Hashem A., Min, Josine, Walter, Klaudia, Memari, Yasin, Huang, Jie, Barnes, Michael R., Beilby, John P., Charoen, Pimphen, Danecek, Petr, Dudbridge, Frank, Forgetta, Vincenzo, Greenwood, Celia, Grundberg, Elin, Johnson, Andrew D., Hui, Jennie, Lim, Ee M., McCarthy, Shane, Muddyman, Dawn, Panicker, Vijay, Perry, John R.B., Bell, Jordana T., Yuan, Wei, Relton, Caroline, Gaunt, Tom, Schlessinger, David, Abecasis, Goncalo, Cucca, Francesco, Surdulescu, Gabriela L., Woltersdorf, Wolfram, Zeggini, Eleftheria, Zheng, Hou-Feng, Toniolo, Daniela, Dayan, Colin M., Naitza, Silvia, Walsh, John P., Spector, Tim, Davey Smith, George, Durbin, Richard, Brent Richards, J., Sanna, Serena, Soranzo, Nicole, Timpson, Nicholas J., Wilson, Scott G., Turki, Saeed Al, Anderson, Carl, Anney, Richard, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Balasubramaniam, Senduran, Barrett, Jeffrey C., Barroso, Inês, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Birney, Ewan, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick, Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebhattin, Clapham, Peter, Clement, Gail, Coates, Guy, Collier, David, Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Day-Williams, Aaron, Day, Ian N.M., Down, Thomas, Du, Yuanping, Dunham, Ian, Edkins, Sarah, Ellis, Peter, Evans, David, Faroogi, Sadaf, Fatemifar, Ghazaleh, Fitzpatrick, David R., Flicek, Paul, Flyod, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise, Geihs, Matthias, Geschwind, Daniel, Griffin, Heather, Grozeva, Detelina, Guo, Xueqin, Guo, Xiaosen, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey, Holmans, Peter, Howie, Bryan, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda, Jing, Tian, Joyce, Chris, Kaye, Jane, Keane, Thomas, Keogh, Julia, Kemp, John, Kennedy, Karen, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel, Lee, Irene, Lek, Monkol, Liang, Jieqin, Lin, Hong, Li, Rui, Li, Yingrui, Liu, Ryan, Lönnqvist, Jouko, Lopes, Margarida, Lotchkova, Valentina, MacArthur, Daniel, Marchini, Jonathan, Maslen, John, Massimo, Mangino, Mathieson, Iain, Marenne, Gaëlle, McGuffin, Peter, McIntosh, Andrew, McKechanie, Andrew G., McQuillin, Andrew, Metrustry, Sarah, Mitchison, Hannah, Moayyeri, Alireza, Morris, James, Muntoni, Francesco, Northstone, Kate, O'Donnovan, Michael, Onoufriadis, Alexandros, O'Rahilly, Stephen, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Pietilainen, Olli, Plagnol, Vincent, Quaye, Lydia, Quai, Michael A., Raymond, Lucy, Rehnström, Karola, Richards, Brent, Ring, Susan, Ritchie, Graham R.S., Roberts, Nicola, Savage, David B., Scambler, Peter, Schiffels, Stephen, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Sharp, Sally I., Shin, So-Youn, Skuse, David, Small, Kerrin, Southam, Lorraine, Spasic-Boskovic, Olivera, Clair, David St, Stalker, Jim, Stevens, Elizabeth, Pourcian, Beate St, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Tobin, Martin D., Valdes, Ana, Kogelenberg, Margriet Van, Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T.R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Elanor, Whyte, Tamieka, Williams, Hywel, Williamson, Kathleen A., Wilson, Crispian, Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Fend, and Zhang, Pingbo

Abstract

Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF≥1%) associated with TSH and FT4 (N=16,335). For TSH, we identify a novel variant in SYN2 (MAF=23.5%, P=6.15 × 10−9) and a new independent variant in PDE8B (MAF=10.4%, P=5.94 × 10−14). For FT4, we report a low-frequency variant near B4GALT6/SLC25A52 (MAF=3.2%, P=1.27 × 10−9) tagging a rare TTR variant (MAF=0.4%, P=2.14 × 10−11). All common variants explain ≥20% of the variance in TSH and FT4. Analysis of rare variants (MAF<1%) using sequence kernel association testing reveals a novel association with FT4 in NRG1. Our results demonstrate that increased coverage in whole-genome sequence association studies identifies novel variants associated with thyroid function.

Published
2015
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41. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Author

Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole, Al Turki, Saeed, Anderson, Carl, Anney, Richard, Antony, Dinu, Soler Artigas, Maria, Ayub, Muhammad, Balasubramaniam, Senduran, Barrett, Jeffrey C., Barroso, Inês, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Birney, Ewan, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick, Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Ciampi, Antonio, Cirak, Sebhattin, Clapham, Peter, Clement, Gail, Coates, Guy, Collier, David, Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Davey Smith, George, Day-Williams, Aaron, Day, Ian N. M., Down, Thomas, Du, Yuanping, Dunham, Ian, Edkins, Sarah, Ellis, Peter, Evans, David, Faroogi, Sadaf, Fatemifar, Ghazaleh, Fitzpatrick, David R., Flicek, Paul, Flyod, James, Foley, A Reghan, Franklin, Christopher S, Gallagher, Louise, Gaunt, Tom, Geihs, Matthias, Geschwind, Daniel, Greenwood, Celia, Griffin, Heather, Grozeva, Detelina, Guo, Xueqin, Guo, Xiaosen, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey, Holmans, Peter, Howie, Bryan, Huang, Liren, Hubbard, Tim, Hurles, Matthew E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda, Jing, Tian, Joyce, Chris, Kaye, Jane, Keane, Thomas, Keogh, Julia, Kemp, John, Kennedy, Karen, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel, Lee, Irene, Lek, Monkol, Liang, Jieqin, Lin, Hong, Li, Rui, Li, Yingrui, Liu, Ryan, Lönnqvist, Jouko, Lopes, Margarida, Lotchkova, Valentina, MacArthur, Daniel, Marchini, Jonathan, Maslen, John, Massimo, Mangino, Mathieson, Iain, Marenne, Gaëlle, McGuffin, Peter, McIntosh, Andrew, McKechanie, Andrew G., McQuillin, Andrew, Metrustry, Sarah, Min, Josine, Mitchison, Hannah, Moayyeri, Alireza, Morris, James, Muntoni, Francesco, Northstone, Kate, O'Donnovan, Michael, Onoufriadis, Alexandros, O'Rahilly, Stephen, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Perry, John, Pietilainen, Olli, Plagnol, Vincent, Quaye, Lydia, Quail, Michael A., Raymond, Lucy, Rehnström, Karola, Richards, Brent, Ring, Susan, Ritchie, Graham R. S., Roberts, Nicola, Savage, David B., Scambler, Peter, Schiffels, Stephen, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Sharp, Sally I., Shihab, Hasheem, Skuse, David, Small, Kerrin, Spasic-Boskovic, Olivera, Spector, Tim, St Clair, David, Stalker, Jim, Stevens, Elizabeth, St Pourcian, Beate, Sun, Jianping, Surdulescu, Gabriela, Suvisaari, Jaana, Tachmazidou, Ionna, Timpson, Nicholas, Tobin, Martin D., Valdes, Ana, Van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T. R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Elanor, Whyte, Tamieka, Williams, Hywel, Williamson, Kathleen A., Wilson, Crispian, Wilson, Scott G., Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Fend, Zhang, Pingbo, and Zheng, Hou-Feng

Abstract

The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (−1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10−8)) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Northern and Southern European origin (−1.0 s.d. (s.e.=0.173), P-value=7.32 × 10−9). This is consistent with an effect between 0.5 and 1.5 mmol l−1 dependent on population. We show that a single predicted splice donor variant is responsible for association signals and is independent of known common variants. Analyses suggest an independent relationship between rs138326449 and high-density lipoprotein (HDL) levels. This represents one of the first examples of a rare, large effect variant identified from whole-genome sequencing at a population scale.

Published
2014
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42. At the Epicentre of the COVID-19 Pandemic in Canada: Experiences and Recommendations of Family Care Partners of an Older Person Living in a Long-Term Care Home.

Author

Bourbonnais A, Lachance G, Baumbusch J, Hsu A, Daneau S, and Macaulay S

Subjects
Humans, Aged, Male, Female, Quebec, Aged, 80 and over, Homes for the Aged organization & administration, Homes for the Aged standards, Canada, Pandemics, Middle Aged, SARS-CoV-2, Anthropology, Cultural, Family psychology, COVID-19 epidemiology, Long-Term Care organization & administration, Caregivers psychology, Nursing Homes organization & administration, Nursing Homes standards
Abstract

The roles of family care partners of older persons living in long-term care homes (LTCH) were severely disrupted during the coronavirus disease (COVID-19) pandemic. Our aim was to describe their experiences and to solicit their recommendations for supportive actions. We conducted a critical ethnography with 24 care partners who cared or had cared for an older person living in an LTCH in Québec during the COVID-19 pandemic. We collected data during interviews and used Spradley's method to analyse them. Care partners experienced a forced separation from the older persons they cared for, which resulted in significant distress. Care, including post-mortem care, was considered inadequate and sometimes even inhumane. Communication was inconsistent, and this variability was also noted in visitation rules. Care partners perceived LTCHs as a neglected community. Supportive actions were recommended. The results illustrated the essential contribution of care partners, and the supportive actions they recommended must be a catalyst for change toward more humane care in LTCH settings.

Published
2024
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