NCube/papyrus huggingface dataset:
Role of the Protein Tyrosine Kinase 7 gene in human neural tube defects

Neural tube defects (NTDs) are among the most common congenital defects with a high incidence of 1-2 per 1000 births, causing a heavy burden to both the families and society. Various types of NTDs result from defects happening in the neurulation process during vertebrate embryonic development. In order to prevent the occurrence of NTDs, understanding the underlying mechanism is a prerequisite. The etiology of NTDs is complex involving environmental and genetic factors. Folic acid supplementation was proven to efficiently decrease the frequency of NTDs by 50-70% depending on the time point of this supplementation and demographic background. Gene identification studies in NTDs have adopted mainly a candidate gene approach investigating folate-related genes and genes derived from animal models. In particular, studies in mouse models have demonstrated a strong association between the non canonical Wnt/Planar Cell Polarity (PCP) pathway and NTDs.  Protein Tyrosine Kinase 7 (PTK7) is a member of the PCP pathway and was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model. Ptk7 genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida.  These data make PTK7 a strong candidate for NTDs in humans. We sequenced the coding region and the exon-intron junctions of PTK7 in a cohort of 473 patients affected with various forms of open and closed NTDs. Novel and rare variants (<1%) were genotyped in a cohort of 473 individuals. Their pathogenic effect was predicted in silico and functionally in an overexpression assay in a well established zebrafish model.  We identified in our cohort 6 novel rare mutations, 3 of which are absent in all public databases, in 1.1% of our NTD cohort.  One variant, p.Gly348Ser, acted as a hypermorph when overexpressed in the zebrafish model. Our findings implicate mutation of PTK7 as a risk factor for NTDs and provide additional evidence for a pathogenic role of PCP signaling in these malformations.

Keyphrases: Protein Tyrosine kinase 7, Neural tube defects, Planar cell polarity, Convergent extension, Re-sequencing analysis, Zebrafish model, Extension convergence
Charles Taylor et le pluralisme moral

This dissertation explores the problem of the legitimacy of claims that emanate from multiple sources of authority (moral, political and legal). Often, in political philosophy, one encounters claims on behalf of pluralism, yet there is anything but a consensus over the meaning of this fundamental concept. Charles Taylor is a philosopher who is often referred to as a pluralist, but I shall argue that this is a mistake. By way of a foray into different domains of practical reason, this study suggests that the gap between issues concerning cultural difference and pluralist claims to authority is obscured and obliterated in Taylor’s work. One of the central goals of his philosophy is that of reconciling competing aims and ends and this is incompatible with pluralism.

Keyphrases: Charles Taylor, Moral and Political Philosophy, Pluralism, Law and Politics, Secularization, Ethics
Pluricausalité, agentivité et pratiques : l’étude comparative de la traduction de Memoria del fuego et de sa révision

Revision, conceived here as the rereading and modification of an existing translation prior to a new edition, although it does not constitute in any way a marginal practice, have received very little interest from translation studies scholars. Retranslation, with which it shares many characteristics, has generally been conceived as the mere result of monocausal models, either based on ‘ʻdéfaillanceʼʼ or the evolution of norms. This master’s thesis, based on a comparative analysis of the trilogy Mémoire du feu (first published by Plon in 1985 and 1988) — French translation of Memoria del fuego, written by Eduardo Galeano (1982, 1984 and 1986) — and its revised edition (published by Lux in 2013), reveals the multiplicity of factors shaping the revision’s process and the relevance of studying their interactions. Our case study, combining textual and contextual analysis as well as field work, demonstrates the significant influence of agent’s practices, ideological stances and conceptions on the undertaking and realisation of a revised edition.

Keyphrases: Agent, Mémoire du feu, Eduardo Galeano, Retranslation, Translation studies, Ethnography, Postructuralism, Memory of fire
La guerre américaine au Vietnam dans l'historiographie française des années 1960-1970 et 1990-2000

The main topic of this historiographical thesis is the evolution of French perceptions on American involvement in Vietnam. We based our study on the historiography of two distinctive periods, those spanning from 1960-1970 and 1990-2000. The aim was to see whether there has been a real transformation in writers’ views on American involvement and, if so, what were the causes.      The work is constructed thematically and is divided into three chapters. The first addresses the choices and the magnitude of the weapons used, the second examines the concept of communism and democracy, and the third deals with the notion of imperialism and colonialism. For all themes analyzed, we summarized the perception that emerges from each of the authors in order to compare the ideological tendencies of the two specific periods.      We have concluded that there has indeed been a significant transformation of perceptions. This transformation has resulted in a less critical attitude towards American involvement in Vietnam. In each chapter, we have been able to observe specific causes of change. However, an underlying tendency emerges and is more revealing, namely the drift of France’s political and moral values from left to right, coupled with an ideological reconciliation with the United States.

Keyphrases: France, Perception, Vietnam War, Historiography
Les facilitateurs et les solutions à la pratique optimale des médecins dans le traitement de l’asthme

OBJECTIVE: To identify key solutions that facilitate physicians’ optimal practice in the treatment of asthma, including the prescription of long-term asthma controller medication and provision of written action plans. METHODOLOGY: Individual semi-structured interviews were conducted with physicians from different specialties (family physicians, pediatricians, emergency physicians, pulmonologists and allergists). Interviews were transcribed verbatim and analyzed independently, using qualitative method, by two trained researchers.                     RESULTS: Forty-two physicians were interviewed. A total of 867 facilitators and solutions were mentioned. They addressed three physicians’ needs: (1) support in delivering optimal care; (2) help to assist and motivate patients to follow medical recommendations; and (3) access to efficient services. From the data, the research team also developed a taxonomy of facilitators and solutions with ten categories. CONCLUSION: Physicians proposed multiple facilitators and solutions to support optimal practice. They varied across specialties and physician’s behaviour sought (prescription of long-term asthma controller, provision of written self-management plans, general asthma management). This highlights the importance of making the choice of interventions in collaboration with knowledge users to obtain solutions that are perceived as acceptable and effective, and who will potentially be more likely to lead to a practice change. The new taxonomy provides a common language for classifying facilitators and solutions.

Keyphrases: Solutions, Asthma, Self-management, Facilitators, Solutions, Guideline adherence, Knowledge translation, Taxonomy
Épistémologie des théories de l’urbanisme : proposition d’un cadre de réflexivité

Relying on their intuition, urbanists are often in a blurred theoric frame which make them more likely to go into the dominant ideology and the current main trends. The first part of this master thesis intend to illustrate that this attitude toward theory is leading to a lack of reflexivity which is an major obstacle to the exercice of a trully professional, ethical and respectful toward territory urbanistic practice. According to Pierre Bourdieu, an autonomous theoric corpus would give the urbanist a frame for reflexivity in order to take step back from his daily exercice of urban planning and to escape the concealed influence of ideology. This thesis intend to understand the actual outline of the field of urbanism theories (understood following the theory of fields of Bourdieu) in the western countries and to propose a synthetic theoric frame specifically dedicated to be use as a reflexivity tool by the urbanist. In order to achieve this goal, an hermeutical reading of the existing, but incomplete, urbanism theories models has been selected. Regarding this matter, two School of toughts has been outlined : the French and the Anglo-saxon Schools. After, a typology of urbanism theories representing each school has been selected to be re-examine. Thus, Françoise Choay’s (for the French School) and Philip Allemndinger’s (for the Anglo-saxon School) typologies has been analysed and put togheter by the construction of a common historiography of the urbanism theories. Finally, a brand new theoritical model (the integrated typology) has been proposed. It propounds that the field of urbanism theories has four great theoritical movements : the instrumental rationalism, the intersubjective rationalism, the pragmatic-postmodern movement and the heritage based movement. In conclusion, rationalism appears as the hegemonic trend in the field of urbanism theories since its foundation and that this dominant position is now overtake by the intersubjective rationalism movement since the mid-1990s.

Keyphrases: Theories of urbanism, Epistomolgy of urbanism, Reflectivity, Territory, Hermeneutic, Theory of fields, Rationalism, Postmodernism
Origine des projections sensorimotrices dans des sous-régions du cortex moteur primaire chez le singe capucin

Previous studies have provided evidence that the ventral premotor cortex (PMv) is not uniformly interconnected with the hand area of the primary motor cortex (M1) but instead, only has connections with specific sub-regions. In the present study, we wanted to expand on these results and investigate the distribution of cortical inputs originating from PMv, the dorsal premotor cortex (PMd), supplementary motor area (SMA), and parietal areas 1, 2 and 5within the hand area of M1. To do so, we combined electrophysiological and anatomical approaches in three naïve New World monkeys (Cebus apella) and examined the organisation and topographic specificity of ipsilateral cortical inputs to M1. Our results indicate that four sub-regions within the hand area of M1 receive predominant cortical inputs from different sensorimotor areas. These results suggest that M1 sub-regions are parts of different cortical networks that may serve specific functions for the control of hand and digit movements.

Keyphrases: Cebus Apella, neuroanatomie, connections, inputs, Cebus apella, monkey, primary motor cortex, neuroanatomy, connections, inputs, ipsilateral, sensorimotor, network, hand area
À la recherche d'une définition de la destination de l'immeuble en copropriété divise au Québec

The right of ownership, absolute in theory, is restricted in the context of divided co-ownership because of the individual and collective environment in which it occurs. In fact, the collective interests may impose restrictions which have to respect certain conditions. One of these conditions, essential, is the respect of the destination of the immovable. Unfortunately, the notion of destination of the immovable is not the subject of any legislation to define it.                                                                                                                      To precise this notion, two concepts have been developed. The first is to the effect that we must take into account in the search for the destination of the immovable, its characteristics and location. The second concept rather provides that we must distinguish destination from characteristics and location. While the first thesis is mostly accepted in jurisprudence, we believe that the courts interpretation of that notion is too extended, which should be more circumscribed.  After a review of the literature and a jurisprudence analysis, we will develop our own concept of the notion of destination, which will be a middle ground between the two established concepts, and will propose improvements on the drafting of this clause in the declaration of co-ownership.

Keyphrases: Affectation, Destination of the immovable, divided co-ownership, property laws, property, characteristics of the immovable, location of the immovable
Action de groupe, formes normales et systèmes quadratiques à foyer faible d'ordre trois

We are interessed here in the action of the group of affine transformations and time homotheties on quadratic differential systems which have a weak focus of third order. These systems are important for Hilbert sixteenth problem.  The bifurcation diagram was produced using Li's normal form in the articles of Andronova [2], and Artès and Llibre [4], without using the projective plane as parameter space, and without using global methods. In [7], Llibre and Schlomiuk used the projective plane as parameter space and global geometric methods (affine and topological invariants).  This diagram contains 18 phase portraits and some of these portraits are repeated in distinct parts of the diagram. This led us to ask the following question : do there exist distinct differential systems, corresponding to distinct values of the parameter, which are on the same orbit of the group action?  In this master's thesis, we prove an original result : the action of the group is not trivial on Li's normal form (theorem 3.1), neither is it trivial on Bautin's normal form (theorem 4.1). Using the second result, we construct the quotient topological space of these systems with a weak focus of third order, with respect to the group action.

Keyphrases: Transformation affine, Affine transformation, Group action, Weak focus of third order, Bifurcation diagram, Quotient space with respect to a group action
Organisation interne d'une coalition de mouvements sociaux : l'influence des relations interpersonnelles. Le cas de la Coalition québécoise contre la réforme de l'assurance-emploi

By studying the case of the Québec Coalition against the reform of the employment insurance, we seek to determine how it is possible for a social movement coalition, considering the diversity of its members, to organize itself and act in unison in the public area. To answer this question, we first put together a literature review of social movements and social movement coalitions, while focussing on social ties. This review brings to light the hypothesis that social ties between members of a social movement coalition have an influence on the proper operation and the durability of this coalition. In order to test this hypothesis, we use data collected in the field through interviews and observation. The data is analysed using various indicators defined in our theoretical framework. The first element is based on how decisions are made within the Coalition (participation of each member, determination of the action plan and criteria for new adherents) and the possibility of existing social ties between members of the Coalition before its formation. The second element refers to the relationships between those members and their impact on the proper operation and continuity of the Coalition.

Keyphrases: Coalition, Action collective, Rétributions militantes, Québec, Canada, Social movements, Social ties, Collective action, Employment insurance, Federal governement
Évolution des pratiques alimentaires en cours de vie : une étude isotopique multi-matérielle de la population du cimetière Saint-Matthew (Québec, 1771-1860)

As a population consisting mainly of immigrants, the Protestants buried in Saint-Matthew’s cemetery, Quebec City (1771-1860) during the 19th century had to adapt to a new environment, and therefore new resources, when they first settled in Quebec. On the other hand, the 18th and 19th centuries saw important socio-economic changes with the coming of the Industrial Revolution, and Quebec City, with its important port, was at the heart of those changes. The objective of this study is to evaluate if the stable isotope geochemistry of several materials of the human skeleton (bone collagen, bone apatite, dentinal collagen and enamel carbonate) can help us understand how dietary behaviours have evolved throughout the life of some individuals (n=40) buried in this cemetery. As diet is closely related to socio-economic, cultural and environmental conditions, it can inform us about individual adaptation and identity through a person’s lifespan. It is in this cultural ecology perspective that we approached this research and the data previously obtained by Morland (2009) and Caron (2013). Our data corroborate those acquired previously on bone collagen by showing that these individuals maintained a European-style diet, and originated mainly from the British Isles. They also show a significant increase in C4 plant (maize, sugarcane, etc.) consumption through adulthood amongst 36 of the 40 individuals that we analyzed, as well as a decrease of protein intake. Our results also indicate a generalized tendency to keep the same dietary profile in the population through life, even if practices became less variable during adulthood. Finally, dietary behaviors show similarites with Irish and poor British populations of the same period for childhood, where as they look more like populations from the St. Lawrence Valley later in life, particularly for protein intake. Therefore, our results suggest important dietary shifts for the individuals we studied, possibly strongly related to their migration process and adaptative response to a new environment.

Keyphrases: apatite, protestants, bioarchaeology, isotopic geochemistry, collagen, Quebec City, diet
Dépistage du décrochage scolaire à l’aide d’informations administratives ou auto-rapportées

Adolescents who drop out of high school often struggle in a knowledge-based, technologically complex society and experience many adjustment problems in adolescence and adulthood. To prevent dropout, a crucial first step consists of correctly identifying students who are most at risk. Schools can rely on two types of screening tools to identify potential dropouts: based on self–reported questionnaire or based on administrative data. However, the predictive value of risk indices based on self-reported data has never been directly compared to that of indices calculated from administrative data. Moreover, the relative efficacy of different screening tools could be different according to the student gender. The purpose of this study is to compare the efficacy, for boys and girls, of two risk indices for high school dropout: a) a validated index based on a self-reported questionnaire (Archambault & Janosz, 2009) and b) an index based on administrative data and designed by a Quebec school board. The comparison of these two screening methods is made in term of psychometric properties and practicality for school practitioners. To do so, a sample of 1557 students (50% boys), between 14 and 18 years old is used. The results show that the administrative index has an adequate discriminant capacity, but that is lower than that of the self-reported index judged excellent. These results were not moderated by gender. The comparative advantages and disadvantages of both screening methods are discussed.

Keyphrases: High school dropout, Screening tools, Self-reported questionnaire, Administrative data, Predictive validity, Gender difference
Abitbol : un langage sur mesure pour la métaprogrammation

Our main thesis is that functions should be transparent during the metaprogramming stage. Metaprogramming is intended as a possibility for the programmer to extend the compiler. But in a functional programming style, the program logic is found in the definition of its functions. Since functions are generally opaque, it is impossible for the programmer to access this information and this limits the metaprogramming possibilities.  We will illustrate the benefits of transparent functions for metaprogramming. We will give the example of symbolic computation and also show new forms of optimizations now available at the metaprogramming stage. We will also illustrate that transparency allows us to bridge the gap between the datatypes of a program and its functions.  We will also examine how transparent functions affects other aspects of the language. We will focus on how to implement them, their performance impact and their ease of use.  We illustrate our thesis with Abitbol, a language designed for metaprogramming.

Keyphrases: Compilation, Transparent functions, Metaprogramming, Functional languages
Le processus de l'écoute en consultation publique

For the past thirty years or so, many citizens of liberal democracies have shunned their polling booths, often frustrated by the lack of impact their votes are having on the consequent political environment (Sandel, 2012; Putnam, 2000). Rather than abandoning the public sphere altogether, some are choosing different mechanisms to be heard and to influence outcomes. This is why the Western world is experiencing a rise of more direct citizen participation in public policy discussions. Unlike voting, we are now not only able to express and disseminate our opinions and points of view but we can also hear and consider the views of others. But even while citizens find themselves invested with more opportunity to engage in public conversation, they are still lacking the tools to effective accomplish their objective. This study focuses on “listening” in the public consultation process and seeks to understand its mechanisms. We observe how listening is manifested in public consultations by drawing up a typology of signs indicating listening, and sollicitations to listen and then studying its functioning. The study reveals that attentive listening can turn into committed listening as listening priorities are negociated and established. For this to work, each participant  must be aware of the input of the other and be constantly aware of final goal of the consultation in question. Committed listening favors sharing authority and authorship among stakeholders. The final report submitted to elected decision makers reflects the discourses but also the listening capacity expressed during the sessions. The legitimacy of this report depends on preparatory work between actors and, among other things, their willingness to listen to each other as well as speak. The quality of the participants’ listening skills has an impact on  the public consultation’s legitimacy.

Keyphrases: negociation, legitimacy, listening, public consultation
Analyse féministe des droits de la femme : l’épreuve de la théorie non idéale

The purpose of this master thesis is to analyze the concept of women’s rights as human rights from a feminist perspective. The liberal paradigm of human rights theory will be criticised because it leads to idealizations that contribute to gender inequalities. We will address the issue by considering women’s rights as specific human rights. This inquiry will start with the possibility to produce a plausible theoretical account of women’s rights. In order to do this, non-ideal conditions will be emphasized. We will then defend social and economic rights as means to protect women’s interests. Lastly, we will favour Nussbaum’s capabilities approach as a theory able to protect the specific interests of women.

Keyphrases: Philosophy, Feminism, Political liberalism, Ideal theory, Non-ideal theory, Women’s rights, Human rights