NCube/papyrus huggingface dataset:
Caractérisation clinique et génétique d’une famille canadienne-française atteinte de la neuropathie héréditaire sensitive avec rétinite pigmentaire et ataxie

Hereditary neuropathies study’s complexity comes from their clinical and genetic heterogeneity and the peripheral nerves fibers’ diversity. This complexity leads to numerous different classifications. Hereditary neuropathies are classified based on the transmission mode and the sensitive, autonomic and motor affection. Hereditary sensory and autonomic neuropathies (HSAN) present themselves with members’ distal loss and other manifestations depending on the HSAN type. HSAN study can be facilitated when there are existing family grapes originating from Quebec regions where recessive diseases founder effects have been identified. We have recruited a large French-Canadian family originating from Paspébiac in the Baie-des-Chaleurs in which we have identified four cases affected by a hereditary sensory neuropathy with retinitis pigmentosa and ataxia (HSNRPA). We have hypothesized that we were in presence of a new form of recessive hereditary sensitive neuropathy with founder effect. In order to identify the HSNRPA causing mutated gene chromosomal position, we first completed a genome wide scan by genotyping microsatellite single tandem repeat (STR) markers on informative individuals and we have then proceeded to a parametric genetic linkage analysis. These studies allowed us to link this family to chromosome 1 and define a first candidate interval of 6.7 Mb. Second to the single nucleotide polymorphism (SNP) markers genotyping, we have reduced the candidate interval at 5.3 Mb on locus 1q32.2-q32.3. This region contains 44 genes. A finer literature review made us realize that a Spanish family and an American from Dutch origin suffering from the same disease had already been linked to the same locus. The possible Gaspesian family’s Basque origins brought us to compare their carrier haplotype with the Spanish family’s, although Gypsy but coming from the Spanish Basque country. This work has demonstrated a shared region of 203 kb. In order to further refine our candidate interval, we have compared the haplotypes of the cases between the two families and we have identified a last candidate interval of 60 SNP at locus 1q32.3. This region contains only four candidate genes, the activating transcription factor (ATF3) gene being the most interesting one. Until today, no mutation has been found in the ATF3 gene and in the FAM71A, BATF3 and NSL1 genes. Further experiments will be necessary in order to identify the HSNRPA causing mutated gene.

Keyphrases: Sensory hereditary neuropathy, retinitis pigmentosa, founder effect, ataxia, genome-wide scan, homozygosity mapping, identity by descent
Évaluation des désordres cardiovasculaires chez des souris bêta-thalassémiques

Hemoglobin is the major protein in red blood cells and is responsible of the oxygen transport. Each hemoglobin molecule is a tetramer consisting of two identical α- and β-globin subunits. β-thalassemia is a genetic hematopoietic disease caused by mutations in hemoglobin genes. This disorder is characterized by a decrease or absence of production of β-globin chain leading mainly to a severe hemolytic anemia and several systemic manifestations, including splenomegaly, skeletal deformities as well as hepatic and renal dysfunctions. Chronic blood transfusions remain the standard treatment for β-thalassemic patients. This therapy requires iron chelating management since it leads to pathological iron accumulation which is currently considered the main cause of cardiovascular complications of β-thalassemia. However, despite adequate control of transfusional iron loading, heart failure remains the leading cause of mortality in β-thalassemia. This issue is possibly indicative of additional pathogenic mechanisms underlying the development of the β-thalassemic cardiac pathology. The objective of the present research project was to study cardiovascular alterations of β-thalassemia independently of transfusional iron overloading. Using an untransfused murine model of β-thalassemia major, we have evaluated in vivo, by non-invasive high-frequency ultrasound imaging, vascular hemodynamic properties. Our results of Pourcelot indices and total peripheral vascular resistance have shown microcirculatory flow disturbances in untransfused β-thalassemic mice. Consequently, we have studied ex vivo the endothelial vasomotor function in isolated mesenteric arterioles. Our findings have pointed out endothelium-dependent vasodilator dysfunction in β-thalassemic mice despite increased expression of nitric oxide synthase, as well as remodeling of the common carotid artery wall. Lastly, our echocardiography studies of heart morphology and function in β-thalassemic mice have demonstrated the development of left ventricle hypertrophy and dysfunction in the absence of chronic blood transfusions or direct myocardial iron deposits. In conclusion, findings presented in this thesis have demonstrated for the first time development of severe cardiovascular complications in untransfused β-thalassemic mice. Based on our results, we have proposed a novel mechanism, independent of direct myocardial iron deposition, responsible for the cardiovascular complications in β-thalassemia. This model combines compensatory effects of chronic anemia with a complex vasculopathy initiated by abnormal erythrocytes and intravascular hemolysis.

Keyphrases: beta-thalassemia, hemoglobin, red blood cells, iron overload, vascular endothelial function, cardiac physiology, ultrasonography, vascular hemodynamics
Exploration de la perception de l’interdisciplinarité de la part des infirmières en milieu gériatrique

Problem: In the context of an ageing population and of the complexification of health needs, working in interdisciplinarity became a necessity to give quality care to the vulnerable older people. Advantages of working in interdisciplinarity are known but its integration in the practice of healthcare professionals is sometimes difficult. The understanding of the perception of interdisciplinarity by nurses is an important element for successful interprofessional collaboration, however this subject was little studied in general, even less in a geriatric context.  Methodology: The purpose of this exploratory qualitative study was to explore the perception of interdisciplinarity by nurses. Data were collected with seven semi-structured interviews and one group discussion. Tesch’s method (1990) was used to analyze the data and a representation of nurses’s perception was elaborated.  Results: Interdisciplinarity is perceived as a fragile balance process between participants’desire to assert their professional identity and their wish to collaborate and to work in synergy with the other professionnals in the interest of older person’s wellbeing. Participants consider nurses’ contribution to the interdisciplinary team indispensable and that their availability and nearness to patients give them a privileged status making them the pivot of the team. They also underline that the vulnerability of older people and the absence of family caregivers during interdisciplinary meetings urge nurses to act as the older person’s spokesman. They unanimously identify communication as the major element of a successful collaboration. They add that the leadership, the competence and the experience of nurses are important determinants of a successful interdisciplinarity, while the desire to collaborate and mutual respect have to be shown by all the team members to work harmoniously. Moreover, among all potential structural and organizational factors, only shortage of professional resources was identified as having an incidence on interdisciplinarity.

Keyphrases: Interprofessional collaboration, Nurses, Elderly, Perception, Perception, Interdisciplinarity
Le rôle du stress oxydatif/nitrosatif dans la pathogénèse de l’encéphalopathie hépatique chronique

Hepatic encephalopathy (HE) is a neuropsychiatric complication due to liver failure where ammonia is believed to be central in the pathogenesis. Acute ammonia intoxication has demonstrated to induce oxidative/nitrosative stress in both in vivo and in vitro models. The present study was aimed to assess the role of oxidative/nitrosative stress in 2 models of chronic liver failure/HE; 1. portacaval anastomosis (PCA) and 2. bile duct ligation (BDL). Both models are characterised with hyperammonemia and increased brain ammonia however cerebral edema is only found in BDL rats. Oxidative/nitrosative stress markers were evaluated in plasma and frontal cortex of both animal models. Central nitrosative stress was observed in PCA rats, but systemic oxidative/ntrosative stress was demonstrated only in BDL rats. The results of our study suggest i) chronic hyperammonemia does not induce oxidative stress and ii) a synergistic effect between ammonia and systemic oxidative/nitrosative stress is associated with cerebral edema.

Keyphrases: Minimal hepatic encephalopathy (MHE), Hyperammonemia, Anastomose portocave (portacaval anastomosis PCA), Portacaval anastomosis (PCA), Bile duct ligation (BDL), Oxidative/nitrosative stress, Cerebral edema
L’approche psycholinguistique de la mémoire à court terme verbale : études neuropsychologiques

The psycholinguistic view of verbal short-term retention suggests that verbal short-term retention and language processing rely on common mechanisms. It predicts that all linguistic characteristics of verbal items (e.g. phonological, lexical, semantic) influence their immediate recall (1). It also predicts that the relative contribution of the different linguistic representational levels is a function of the recall context (2). In this view, some experimental conditions (e.g. modes of presentation of stimuli) are thought to promote the use of specific coding. Two studies assess these predictions in a brain-damaged patient (I.R.) who shows a phonological deficit as well as in control participants. In a first article, the impact of presentation and recall modes on phonological and semantic similarity effects of words is tested. In a second article, the contribution of orthographic coding in verbal short-term memory (STM) is assessed by testing the effect of orthographic Neighborhood (N) density of words on immediate serial recall (ISR) of written words. Due to her phonological deficit and because phonological representations play a predominant role in STM, distinct linguistic effects were expected in I.R. and in controls. Overall, (and) depending on the recall context, larger semantic and orthographic effects were predicted in I.R. and larger phonological effects were predicted in controls.  In I.R., the data indicate that recall is influenced by semantic and orthographic characteristics of items but less by their phonological properties. The results also indicate that the impact of representations depends of recall conditions. In controls, a different pattern of results is obtained, suggesting an overall predominant contribution of phonological representations. Results support the psycholinguistic view of verbal short-term retention and are discussed in regard to current interactive activation psycholinguistic models of verbal STM and language processing.

Keyphrases: Item, Short-term memory, Psycholinguistic models, Neuropsychology, Immediate serial recall, Order, Item, Phonological representations, Semantic representations, Orthographic coding, Orthographic neighborhood
La genèse d'une classe de mots : les conjonctions dans la tradition (pré-)grammaticale de l'Antiquité grecque

This research is concerned with the theory of the parts of speech in Greek antiquity and more precisely with the topic of conjunctions.  The first chapter examines the definition of the conjunction given in Aristotle’s Poetics, as well as the other texts of the Aristotelian corpus which allow us the get a better grasp on a still ill-defined grammatical entity.  The second chapter deals with the conjunction within the logico-grammatical researches of the Stoic school.  It examines the Stoic definition of the conjunction, as well as the various categories of conjunctions that were identified by the Stoics.  The central role of conjunctions in the Stoic theory of complex assertions is emphasized, thus showing the close interrelation between logic and grammar at this point in the development of grammatical theory.  The final chapter is concerned with the definition and the classes of conjunctions given in the Tekhnè grammatikè, a short grammatical treatise ascribed to the Alexandrian philologist Dionysius Thrax.  It shows the influence of the Stoic theory of complex assertions on this first attempt at grammatical systematization, as well as the interference of philological concerns.

Keyphrases: History of linguistics, Parts of speech, Conjunction, Aristote, Aristotle, Stoics, Dionysius Thrax
Le changement social et l'État moderne en Mongolie

This paper outlines a socio-historic analysis of an extreme case of social change in Mongolia in the 1990s, which saw the sudden emergence of more than 100 000 artisanal miners. The first chapter discusses the relevant concepts which assist to develop an understanding of the tensions between stability and movement in human societies and how this in turn produces change. The next chapter identifies the recurring trends of Mongolian history and how that contributes to the present situation. The final chapter details the characteristics of this phenomenon and how it might develop in the near future. This paper proposes a new theory that, applied to this specific case, illustrates the impacts of the modern state on each individual and how it diminishes control from the marginalised groups of society.

Keyphrases: Mongolia, Social change, Ideology, State, Transition, Transition, Capitalism, Informal sector, Mining
Inférence doublement robuste en présence de
données imputées dans les enquêtes

Imputation is often used in surveys to treat item nonresponse. It is well known that treating the imputed values as observed values may lead to substantial underestimation of the variance of the point estimators. To overcome the problem, a number of variance estimation methods have been proposed in the literature, including appropriate versions of resampling methods such as the jackknife and the bootstrap. We define the concept of doubly robust point and variance estimation under the so-called nonresponse and imputation model approaches. We focus on jackknife variance estimation, which is widely used in practice. We study the properties of several jackknife variance estimators under both deterministic and random regression imputation. We first consider the case of simple random sampling without replacement. The case of stratified simple random sampling and unequal probability sampling is also considered. A limited simulation study compares various jackknife variance estimators in terms of bias and relative stability when the sampling fraction is not negligible. Finally, the asymptotic normality of imputed estimator is established under both deterministic and random regression imputation.

Keyphrases: Double robustness, Imputation model approach, Item nonresponse, Jackknife variance estimator, Linearization variance estimator, Nonresponse model approach, Reverse framework, Regression imputation, Two-phase framework
La détermination de la peine dans le contexte de la Loi sur le système de justice pénale pour les adolescents

The Youth Criminal Justice Act is recent in the field of youth justice. This law came into effect in April 2003 and changed the criteria in the youth justice system sentencing. This thesis aims at identifying the elements on which judges base their decisions. In order to do so, an analysis of the available case law and interviews with judges sitting in the Montreal Youth Chamber of the Quebec Court have been done The enforcement of dispositions related to sentencing goals and principles generated comments from the judges, who reported some difficulties. Guidelines have been established by the judges in the course of their practice. These are also followed by these same judges. The youth justice system tends to get closer to the adult justice system, which ascribes a greater weight to the offence and lesser one to the offender. Yet, judges try to make those two justice systems different. Judges are also looking for a balance between two major sentencing principles: the sentence must be proportionate to the seriousness of the offence and the degree of responsibility of the youth for that offence, and the sentence must promote the rehabilitation and reintegration of the young offender into society.

Keyphrases: Justice, Sentencing, Sentence, Young, Offenders, Criminal, Act, Justice, Youth
La désaturation cérébrale lors d’une chirurgie thoracique : son incidence et sa corrélation avec les complications post 
opératoires

Single lung ventilation (SLV) during thoracic surgery causes important cardiopulmonary disturbances and numerous hemodynamic changes. The objective of this research project was to study the impact of the SLV on the cerebral oximetry values SctO2 and its relationship with postoperative complications.  Twenty patients were included in the first study undergoing thoracic surgeries with SLV. SctO2 was measured using the FORE-SIGHT™ (CASMED, USA) oximeter in order to study SctO2 changes along the surgery. SctO2 values as well as the standard monitoring parameters (BIS, SpO2, BP, HR) were recorded every 5 min starting from the induction until the awake of the patient. A blood gas analysis (paO2, paCO2, Hb) was performed every 15 min during the SLV.  The second study consisted of studying the relationship between minimal SctO2 values reached during SLV and the post-operative complications. For this, SOFA and Clavien scores were established for each patient, measuring the severity of early postoperative complications. Data are presented as mean and median [1st quartile, 3rd quartile; min – max]. Twenty patients from the first study showed a mean SctO2 baseline value of 80% before induction. During SLV, this value dropped to 63% and recovered to 71% directly after extubation. All the patients showed cerebral oxygen desaturations of more than 15% from baseline value and 70% of patients had SctO2 desaturations of more than 20%. Those désaturations did not correlate with any of the standard clinical monitoring parameters such as blood pressure, blood gas analysis, peripheral saturation or PaO2. The second study, including thirty additional patients added to the previous twenty, came to confirm the results previously obtained. Furthermore, a correlation analysis was performed between minimal absolute SctO2 values obtained during SLV and postoperative complications. The fifty patients had a mean SctO2 baseline value of 80%, dropped to 64% during SLV and recovered to 71% before the end of the surgery. 82% of the patients had a decrease of SctO2 of more than 15% from baseline values and 10% of patients reached minimal saturation values between 45 and 55%. Minimal absolute values during SLV correlated with non-respiratory SOFA (R2=0.090, p=0.0287) as well as the Clavien score (R2=0.098, p=0.0201), but did not correlate with any of the standard clinical monitoring parameters (SpO2, PaO2, PaCO2, Hb). By defining a threshold value of SctO2=65%, the Odds ratio of having a non-respiratory organ failure is 2.37 (95% CI=1.18 – 4.39, p=0.043) and a complication classified as a Clavien score higher that 0 is 3.19 (95% CI=1.60 – 6.34, p=0.0272). Thoracic surgery necessitating a SLV is associated with a significant decrease of SctO2 and minimal SctO2 values seem to positively correlate with postoperative complications.

Keyphrases: Cerebral saturation, Thoracic surgery, Single lung ventilation
Étude d’un modèle murin de vieillissement sur la sténose valvulaire aortique

Aortic valve stenosis (AVS) is associated with aging and classical cardiovascular risk factors. Different animal models were recently developed to study AVS and explore new therapies, however, most of these models rely almost exclusively on hypercholesterolemia-related mechanisms for AVS development. Werner syndrome (WS) is a disorder characterized by premature aging. It was recently demonstrated that mutant mice with a deletion of the helicase domain of the Werner gene, the gene responsible for WS, showed hemodynamic profile typical of AVS. We therefore hypothesized that mice with the WrnΔhel deletion could develop AVS earlier than wild-type (WT) mice. We studied the effect of the WrnΔhel mutation by comparing the rate of progression of AVS in homozygous mutant versus WT mice. By twenty-four weeks on a high-fat/high-carbohydrate diet, WrnΔhel/Δhel (WrnΔhel) mice showed a stronger decrease of the aortic valve area measured by serial echocardiography than WT mice, supported by histological analyses of valve fibrosis but without developing major signs of atherosclerosis such as lipid infiltration or increased inflammation. Some features linked to endothelial dysfunction also appeared to be increased in WrnΔhel mice. Other echocardiographic measurements were typical of AVS, such as left ventricle hypertrophy in the WrnΔhel group. We also observed stronger aging properties from WrnΔhel mice bone marrow and blood analyses compared to the WT group. Consequently, this experimental aging model could be used for AVS research without the major confounding atherogenic effects of other experimental models.

Keyphrases: Aging, Werner syndrome, WrnΔhel/Δhel Mouse, Cardiovascular disease, Aortic valve stenosis
Vivre entre les murs : l’expérience d’hommes incarcérés pour la première fois

This study investigates how first time inmates experience life in prison.  In order to gain greater knowledge of correctional centers and to better understand the impact of incarceration on prisoners, we carried out qualitative semi-structured interviews with twenty-one first time prisoners in two Québec prisons.  Our analysis suggests that although much improvement has taken place in correctional facilities in the past thirty years, for instance the incursion of society inside the walls, the decentralization of power and the granting of inmate’s rights, prisons remain “total” and “disciplinary” institutions.  Prisoners still experience the pains of imprisonment, still experience extreme fear and still suffer greatly.  Prison adaptation is explained as a way for inmates to relive their suffering. Our findings suggest that the pursuit of control and efficient stress coping enables first-time inmates to attain a certain well being within the prison walls.

Keyphrases: Prison, Adaptation, Institution totale, Stress, Prison, Inmates, Control, Adaptation, Fear, Total institution, Stress
An ethnolinguistic study of the Yanesha’ (Amuesha) language and speech community in Peru’s Andean Amazon, and the traditional role of Ponapnora, a female rite of passage

The Yanesha’ language is spoken on the edges of two worlds, the Andes and the Amazon, in southcentral Peru. Ethnolinguistic fieldwork was carried out among the Yanesha’ people in May-August 2008 to learn about their language and the possible factors leading to its endangerment. This thesis examines the unique linguistic features of Yanesha and its place within the Arawak language family. It also discusses a puberty ritual that plays an important role in preserving musical and linguistic heritage among Yanesha’ women: the ponapnora female initiation ritual.

Keyphrases: Yanesha' (Amuesha) language, Peruvian Andean Amazon, Arawak language family, endangered traditions, ponapnora puberty ritual