NCube/papyrus huggingface dataset:
Genetic risk factors of chronic insomnia disorder

Background: Chronic insomnia disorder (CID) affects 3.5 million Canadians. Despite its high prevalence, we do not fully understand the underlying mechanisms of CID. Genetic studies of insomnia contribute to better understanding its biological basis. The latest two genome-wide association studies (GWAS) suggest that MEIS1 gene, previously associated with restless legs syndrome (RLS), is independently associated to insomnia. However, the GWAS phenotyping method was limited and the finding was not yet replicated. Objective: Evaluate the association between MEIS1 and CID. If MEIS1 is pleiotropic to CID and RLS, the minor allele frequency of MEIS1 variants will be equivalent in CID patients with and without RLS. Methods: Overall, 646 CID patients participated in the study. We genotyped three MEIS1 variants. To confirm our results, we compared the allelic and genotypic distributions of the CID cohort to ethnically matched controls and RLS cases from the French Canadian cohort. Results: Patients were diagnosed by sleep specialists and 26% of the sample were diagnosed with CID+RLS. We find significant differences in allele and genotype distributions between CID-only and CID+RLS groups. Allele and genotype distributions of the three MEIS1 SNPs were similar in between CID-only and control groups and in between CID+RLS and RLS-only groups (all p>0.05). Conclusion: Our data confirms the association between MEIS1 and RLS but it does not support the pleiotropic effect of MEIS1 in CID. Further, our study highlights the critical importance of phenotyping and the need to carefully isolate CID from other disorders that can cause sleep difficulties, particularly RLS.

Keyphrases: GWAS, MEIS1, Sleep disorders, Sleep genetics, Insomnia genetics, Chronic insomnia disorder, Restless legs syndrome, Genome wide association study, Phenotyping
Évolution à long terme de 142 patients atteints d'un premier épisode de schizophrénie

Schizophrenia is defined in the literature as a severe and persistent mental disorder. Its prognosis is difficult to predict, as there is a paucity of recent long-term studies on the evolution of schizophrenia. This masters has two objectives:  (i) Describe the evolution of first episode schizophrenia patients by means of longitudinal studies with a follow-up of 10 years of more. (ii) Retrospectively describe the principal clinical and functional outcome measures of 142 first episode schizophrenia patients with a 27 to 31 year follow-up. Methods:  (i) The author conducted a systematic literature review, presenting articles with samples of first episode schizophrenia patients with a minimum follow-up of 10 years.  (ii) The author retrospectively evaluated the clinical and functional variables of 142 patients, using hospital charts and governmental health databases.  Results: (i) According to the literature, after a 10 year or more follow-up, 39,5 to 51,0% of patients are single and 25,6 to 54,0% are employed. The rate of suicide varied from 1,7 to 10,0%.  (ii) The number of hospitalizations in psychiatry decreased after the first 10 years, and 1/5 of patients did not require a re-hospitalization. More than half of patients received social assistance payments at study end. 14 patients died of suicide, half of which were during the first 10 years.  Conclusion: Schizophrenia is a mental disorder with severe consequences, but the evolution is heterogeneous.

Keyphrases: first episode schizophrenia, long term outcome, prognosis, functional outcome, course
Principes de l’évolution du réseau de l’homéostasie des protéines

Cell homeostasis is the ability of a cell to maintain its balance and functionality. One of the causes of the instability of this balance is stress. Indeed, stress causes an accumulation of misfolded proteins, which can form aggregates causing neurodegenerative diseases. Molecular chaperones are the main cellular mechanism that promote protein folding and quality control. These form the heart of a network called protein homeostasis network. The purpose of this is to control, insure and protect the proteome through folding and elimination of aggregates. The network plays a vital role in keeping cellular protein in homeostasis known as proteostasis. Failure of protein homeostasis is linked to aging and aging-associated neurodegenerative diseases such as Alzheimer’s and Parkinson’s. Currently, our understanding how this network keeps the proteome in balance in health, and how it fails and causes diseases, remains incomplete. Different species offer striking examples. For instance, the naked-mole rate, Heterocephalus glaber, remarkable for its life expectancy of over 30 years, it has an effective stress-resistant mechanism and a good homeostasis, which allows it to easily achieve a balance and homeostasis. On the other hand, the killifish, Nothobranchius furzeri, whose life expectancy is very short, has an accelerated aging process and with pronounced loss of homeostasis. Here we seek to ask, how does this balance work for these and other organisms? This research project will use bioinformatics and comparative genomics approaches to highlight the fundamental principles of proteostasis. The evolution of the chaperone network will be analyzed in the context of proteome adaptation. We analyze the diversification of the chaperone network across the eukaryotic phylogeny and compare it with aspects of the evolution of the corresponding proteomes. This master's project provide fundamental insights into the biology and the evolution of the protein homeostasis network. Moreover, we use comparative genomics analysis of chaperons from 216 eukaryotes species which indicates that the balance in proteostasis could be a key variable in explaining organismal robustness.

Keyphrases: Evolution, chaperons, homeostasis, bioinformatics, phylogenetics
Investigation du système ubiquitine protéasome et découverte de nouvelles cibles thérapeutiques anti-cancer surpassant la résistance acquise au bortézomib

Multiple Myeloma (MM) is the second most common human blood cancer. The proteasome, a multi-protein complex responsible for the degradation of ubiquitinated proteins, has been established as a major target for the treatment of MM cancer patients. Although patient survival rates have significantly improved since the introduction of proteasome inhibitors (bortezomib), patients develop resistance and ultimately relapse. Therefore, this disease remains a major public health issue and there is an absolute need to develop novel therapies. In our study, we generated bortezomib-resistant cancer cell lines and conducted deubiquitinases (DUB: 100 genes) and ubiquitin-conjugating enzymes (E2: 40 genes) RNAi screens to identify which genes of these families affect cell proliferation of sensitive and/or resistant cancer cells following abrogation of their function. Among several hits, we identified the proteasome-associated DUB PSMD14, which is required for protein deubiquitination prior to their entry and degradation by the proteasome. These hits have been validated by other RNAi sequences. Further, PSMD14 was submitted to more detailed analysis using RNAi, CRISPR/Cas9 and mutagenesis approaches in sensitive or resistant cancer cells. We found that PSMD14 depletion result in a dramatic decrease of cell proliferation and cell death compared to bortezomib target PSMB5. On the other hand, we observed that the extent of histone H2A ubiquitination and HSP70 expression levels are correlated with the cellular sensitivity to proteasome inhibition. Thus, these factors could be potential biomarkers for MM patient survival prognosis.  PMSD14 as well as other candidates revealed from our screens represent potential therapeutic targets whose inhibition is predicted to overcome the acquired resistance to proteasome inhibitors currently used to treat cancer patients.

Keyphrases: Cancer, PSMD14, Proteasome, Proteasome inhibitor, Acquired resistance, New therapy, Screening, Deubiquitinase, Ubiquitin conjugation enzyme
Une minorité sans histoire : le cas des Roms en Roumanie

The Romanian Revolution of 1989 began the process of democratization after more than four decades of communism. Numerous economic, political and social changes followed the fall of the totalitarian regime, especially as a result of the country's accession to the European Union. One of the issues that demonstrates the progress and the limits of Romania’s transition to democracy is the conflicting memories awakened by the historiographical revision. Pressure from European and international institutions has created political opportunities for minorities, including Hungarians, Jews, and the Roma; to find their place in national history, which until now had been ignored. Despite the new political opportunities and the advances of the Jewish and Hungarian communities, the Roma have remained largely absent from Romania’s national history. This analysis examines the factors that explain the gap between the representation of the Roma with that of the Jewish and the Hungarian communities through the lens of the political process model, which encompasses three well-established factors of the social movement theory: political opportunities, resource mobilization, and framing.

Keyphrases: History, Historiography, Collective memory, Nationalism, Textbook, Roma, Minority, Political opportunity, Framing, Social movement, Romania
Retracer le changement de la répartition géographique d’une espèce grâce aux événements d’hybridation in situ

Shifts in the geographical distribution of species are strongly influenced by climate change. In areas where conditions become unfavorable, demographic decline precedes the extinction of a species. During this decline, hybridization events may occur when individuals of a scarce species breed with more abundant heterospecific indivduals (Hubbs principle). A previous study in Southern Quebec (Canada), detected several in situ hybridization events involving females Chrosomus neogaeus and males Chrosomus eos, although C. neogaeus is nearly absent from the region. This has been achieved thanks to the asexual reproduction mode of hybrids which then preserve the genetic diversity of parental species intact. This study aimed to assess the demographic changes of C. neogaeus according to the geographic pattern of hybridization events. A large latitudinal sampling was performed to determine the geographical distribution of members of the C. eos-neogaeus complex and test different biogeographical scenarios. While C. neogaeus was present across all drainage basins sampled, a correlation between drainages and the glacial origin of individuals that colonized them revealed different postglacial colonization histories. However, a latitudinal gradient was observed regarding the hybrid diversity. In the south, results revealed a large occurrence of in situ hybridizations, but these became less common going north. This latitudinal pattern could be interpreted as a northward shift in the C. neogaeus geographical distribution and constitutes additional evidence of a large-scale environmental change in freshwater aquatic ecosystems since the end of glaciation.

Keyphrases: Méné ventre citron, Chrosomus neogaeus, Complexe Chrosomus eos-neogaeus, Demographic changes, Hybridization events, Geographical distribution, Climatic changes, Finescale dace, Chrosomus neogaeus, Chrosomus eos-neogaeus complex
Le Triticum aestivum L. cv Major et cv Fuzion en culture biologique ou conventionnelle : comparaison des rendements en grains, de leur qualité panifiable et de l’incidence de la fusariose

Yields of two spring wheat cultivars, Triticum æstivum L. var. Major and Triticum æstivum L. var. Fuzion, were compared in conventional and organic agriculture. Crops were grown at two sites in two different agroclimatical areas: Nicolet (Zone 2) and Saint-Hyacinthe (Zone 1) in 2016 and 2017, respectively. Deoxynivalenol (DON), protein percentage, weight of one thousand grains, falling number, GlutoPeak test and specific gravity were measured. These variables were analyzed using a multivariate regression tree analysis (constrained clustering) and a MANOVA analysis by RDA (canonical ordination). In 2016 and 2017, two years characterized by an intensive competition from adventive species in organic culture in the first case and by wilt infestations in the second case, the results obtained with the “Major” cultivar are better than those of the Fuzion with respect to the GlutoPeak test, the protein percentage and the weight of 1000 grains, but with respect to falling number, yield, and specific gravity, no difference was observed. In 2016, a dry and favourable year, there is as much heterogeneity between the types of agriculture, on the one hand, and the sites of the same type of agriculture and cultivars, on the other hand. This makes it difficult to determine the comparative value of either type of agriculture, or any of the cultivars. The same applies to DON. However, it must be noted that for sites not disturbed by adventive species, the yield in organic agriculture is as good as in conventional agriculture.

Keyphrases: Fusarium, Wheat, Organic agriculture, Convential agriculture, Yield, Weeds
La participation syndicale des travailleurs dans un contexte de précarité de l’emploi

Employment precarity can be defined as the accumulation of insecurities or as the lack of security in an employment relationship. This phenomenon still exists despite its evolutions across time. Precarity can take several forms : low income, low control on one's work schedule, fixed-term contracts, insufficient number of hours, lack of access to social protection or unionization. All those forms will have consequences on one's living conditions, such as material deprivation (inadequate housing, clothes, food, leisure), stress or adverse effects on health. In the meantime, unions organize and fight to grant their members the best working conditions achievable. When it comes to precarious workers, unions militate for better regulations, in order to mitigate the negative consequences of employment precarity. Members' participation to the daily life of their union is here considered to be capital : They are the only ones able to inform the union's head of the current situation, and they are the only ones able to implement means of pressure in order to create a balance of power with the company's management. It is noticeable however, that on a theoretical point of view, most models about union participation from members have their focus on the so-called "traditional" workforce, that presents no signs of precarity. The aim of our research is therefore to apply an analysis grid, initially tailored for "traditionnal" workforce, to a group of workers featuring precarity factors. By analyzing working conditions, current union strategies and participation in tis form and intensity, we intend to see how participation from precarious workers can differ from the one of a standard workforce. To do so, we have analyzed and compared two groups of unionized workers. Those two groups are unionized with the same union, belong to the same corporate group and operate in the same economic field. Yet, the form and intensity of their union participations differ significantly. Our analysis therefore consisted of meeting different actors of those two groups. Thanks to the results of our interviews, we highlighted the union strategies that allow one of the two groups to have a higher participation level. We also provide a feedback on the classical theories regarding union participation, to see which ones can be extended to precarious workers and which ones cannot. Through the analysis of our cases, we determined that certain elements such as the attitude of union representatives toward their function, communication methods or the way collective identity was built are very important to characterize union participation from a precarious workforce. Conversely, while classic theories about union participation seem to highlight the importance of union attitude of the workforce, individual activities or formal communication methods for union participation, our finding tend to mitigate the importance of the latter elements.

Keyphrases: precarious work, precarious workers, union participation, membership logic
Une étude des conditions d’effectuation du travail artistique : organisation par projet et pluriactivité dans le monde des arts numériques montréalais

The work of artists represents an under-researched topic in the field of labour studies. Thus, this research aims to investigate the conditions in which artistic work is realized. In other words, we wonder how the work of digital artists in Montreal is realised according to the forms of organisation and activities?  To proceed, we will explore two main axes. The first axe focuses on how the organization of labour is, on one hand, project-based, and how artistic work involves, on the other hand, a multicentric collaboration interdependence between artists and every actor in the art world. The second axe focuses on artistic activity, meaning artists work in standard jobs to finance their often unpaid or low-paid artistic activities. Thus, artists cumulate simultaneously artistic activities, such as creation and diffusion, para-artistic activities, such as teaching, and/or non-artistic activities, such as standard jobs.  Because our research is qualitative, we will use an empirical approach based on a comprehensive methodology and a biographical perspective. In other words, we will realise twelve semi-structured interviews centered on the life of our participants. Finally, we will complete those interviews with ethnographic observations, meaning socio-spatial annotations to situate socially and geographically the context of the interview.

Keyphrases: biographical approach, comprehensive methodology, pluriactivity, project-based organization of labour, self-run artistic centre
Analyse comparative de la description du suspect lors d’entrevues d’enquête policière avec des enfants victimes d’agressions sexuelles

Two elements may influence the number of details revealed by a child about his or her sexual abuse: The type of question asked by the investigator and the age of the child. The aim of this study is to determine whether the nature of the words, the description used by children and as the quantity of new detail provided in describing the alleged perpetrator are moderate by the child’s age and the type of questions posed by authorities (invitation or directive). A total of 75 police investigations interviewing children (50 girls and 25 boys) aged from 3 to 12-years-old (M = 7,21; É.T. = 2,75) were analyzed when age was divided into 3 groups (3 to 5-years-old, 6 to 8-years-old and 9 to 12-years-old). A one factor one-way ANOVA analysis and follow-up post-hoc test revealed significant differences between the three groups across all categories. Indeed, children aged from 9 to 12-years-old provide significantly more details than those aged from 3 to 5 years-old. A content analysis of children’s verbatim shows that the accuracy of the description of the suspect improves as a function of the age of children. Finally, the study’s results do not demonstrate an interaction effect of the type of question and child age on the nature of words chosen by the children. However, a main effect of the question type is obtained for the pronouns/noun category. Also, a main effect of child age groups are identified in almost all categories. This is the first study to look closely at content revealed by children, which will inform to adjust to children’s varying developmental capacities.

Keyphrases: guide NICHD, investigative interview, NICHD protocol, sexual abuse, child
Les expériences de maintien en emploi au travers de la trajectoire de transplantation rénale : une description qualitative

Following kidney transplantation, employment predicts patient quality of life and decreases mortality and graft loss greffon (Chisolm et al., 2015; Prihodova et al., 2015). Yet, a majority of able kidney recipients are unemployed (Slakey & Rosner, 2007). Amongst the possible explanatory factors, employment during dialysis is a robust predictor of return to work after transplantation (van der Mei et al., 2006). In this regard, the development of efficient support systems aimed at keeping patients with chronic diseases in the workforce requires a thorough understanding of their needs and concerns (Vooijs et al., 2017). However, end-stage-kidney-disease patients’ perspectives regarding job retention remain poorly documented. This study thus aims to describe patients’ experiences of labour participation before and after kidney transplantation. A descriptive qualitative research design was adopted (Sandelowski, 2000). Patients with end-stage-kidney-disease who recently underwent transplantation were recruited one to twelve months post-transplant at a university-affiliated hospital in a large urban area. They were interviewed about their illness and work experiences using a semi-structured interview schedule. Based on employment status, 31 of those interviews were selected and were subjected to thematic analysis (Braun & Clarke, 2006; Patton, 2015). Three themes emerged from the data: (1) struggling to establish a satisfactory routine that balances work and illness demands as well as patient involvement in other life domains, (2) becoming aware of personal limits due to a decline in work capacity which leads to needing support from others, and (3) being motivated to stay at work by cultivating positive perceptions about work and by undertaking targeted actions. These results suggest possible interventions aimed at job maintenance for kidney transplant patients such as supporting patient adjustment during employment transitions, encouraging dialogue with employers, and supporting the use of self-management strategies adapted to their work schedules. Limits of the present study include a lack of diversity in recruitment sites and the absence of an iterative process during data collection. Future studies could be conducted in rural or private care settings and examine the long-term employment adjustment of transplant recipients.

Keyphrases: transplantation, étude qualitative, employment, kidney disease, qualitative study, chronic illness, activities of daily living, work-life balance, self-management, activity limitations