1,720,967 research outputs found
Genetic basis of impulse control disorders in Parkinson's Disease
No full textDans la maladie de Parkinson (MP), la stratégie thérapeutique est basée sur l’administration de substituts dopaminergiques. Bien que disponibles depuis les années 1960, des troubles du contrôle des impulsions (TCI), aux conséquences délétères pour le patient et son entourage, associés à ces substituts ont été décrits récemment. De façon intéressante, les TCI apparaissent préférentiellement sous agonistes dopaminergiques (AD). Dans la MP, leur prévalence varie de 10 à 40 %, bien plus que dans la population générale. Si peu de données sont disponibles sur les risques génétiques des TCI, on sait que l’héritabilité du trait est supérieure à 50% tant dans la population générale que dans la MP. Les facteurs de risque cliniques n’expliquent qu’en partie la variabilité phénotypique de ces troubles et des facteurs génétiques pourraient contribuer à cette héritabilité manquante.L’objectif principal de cette thèse était d’élucider la base génétique des TCI dans la MP.Nous avons agrégé des données phénotypiques et génétiques de différentes cohortes de patients parkinsoniens, afin de tester l’association entre les variantes génétiques, les gènes ou les circuits biologiques et les TCI par des approches candidates et pangénomiques. Toutes les données ont été soigneusement standardisées et contrôlées pour prévenir d’éventuels biais.Nous avons identifié plusieurs gènes et circuits biologiques intéressants qui pourraient apporter des informations importantes sur les mécanismes moléculaires des TCI dans la MP et contribuer à prévenir leur apparition, en prédisant le risque individuel de développer des TCI, mais aussi en identifiant de nouvelles cibles thérapeutiques potentielles.In Parkinson’s disease (PD), the therapeutic strategy is based on dopamine replacement therapy. Although available since the 1960s’, it is only relatively recently that behavioral disorders, such as impulse control disorders (ICDs), associated with these drugs have been described. Interestingly, ICDs appear electively under dopamine agonists (DA). In PD, their prevalence ranges from 10 to 40%, far more than in the general population. ICDs in PD represent a major Public Health issue because of their familial, social, economic or legal impact. If few data are available on the genetic risks for DA associated ICDs, heritability of the trait is known to be higher than 50% in both the general population and PD patients: clinical risk factors do not explain the high variability of the occurrence of ICDs in PD, and genetic factors may explain a substantial part of it.The main objective of this thesis was to elucidate the genetic basis of ICDs in PD patients.We aggregated phenotypic and genetic data from different pre-existing cohort of PD patients, to test for association between genetic variants, genes or pathways and ICDs using specific approaches to correct statistical associations and dissect potential pharmacogenetic effects. All datasets were carefully standardized and quality controlled using the same processes.We identified several interesting genes and pathways that may bring important insights on the genetic determinants and mechanisms of ICDs in PD patients. This may help prevent the occurrence of such disorders not only by predicting the risk of developing ICDs, but also by identifying potential new therapeutic targets
Bases génétiques des troubles du contrôle des impulsions dans la maladie de Parkinson
No full textIn Parkinson’s disease (PD), the therapeutic strategy is based on dopamine replacement therapy. Although available since the 1960s’, it is only relatively recently that behavioral disorders, such as impulse control disorders (ICDs), associated with these drugs have been described. Interestingly, ICDs appear electively under dopamine agonists (DA). In PD, their prevalence ranges from 10 to 40%, far more than in the general population. ICDs in PD represent a major Public Health issue because of their familial, social, economic or legal impact. If few data are available on the genetic risks for DA associated ICDs, heritability of the trait is known to be higher than 50% in both the general population and PD patients: clinical risk factors do not explain the high variability of the occurrence of ICDs in PD, and genetic factors may explain a substantial part of it.The main objective of this thesis was to elucidate the genetic basis of ICDs in PD patients.We aggregated phenotypic and genetic data from different pre-existing cohort of PD patients, to test for association between genetic variants, genes or pathways and ICDs using specific approaches to correct statistical associations and dissect potential pharmacogenetic effects. All datasets were carefully standardized and quality controlled using the same processes.We identified several interesting genes and pathways that may bring important insights on the genetic determinants and mechanisms of ICDs in PD patients. This may help prevent the occurrence of such disorders not only by predicting the risk of developing ICDs, but also by identifying potential new therapeutic targets.Dans la maladie de Parkinson (MP), la stratégie thérapeutique est basée sur l’administration de substituts dopaminergiques. Bien que disponibles depuis les années 1960, des troubles du contrôle des impulsions (TCI), aux conséquences délétères pour le patient et son entourage, associés à ces substituts ont été décrits récemment. De façon intéressante, les TCI apparaissent préférentiellement sous agonistes dopaminergiques (AD). Dans la MP, leur prévalence varie de 10 à 40 %, bien plus que dans la population générale. Si peu de données sont disponibles sur les risques génétiques des TCI, on sait que l’héritabilité du trait est supérieure à 50% tant dans la population générale que dans la MP. Les facteurs de risque cliniques n’expliquent qu’en partie la variabilité phénotypique de ces troubles et des facteurs génétiques pourraient contribuer à cette héritabilité manquante.L’objectif principal de cette thèse était d’élucider la base génétique des TCI dans la MP.Nous avons agrégé des données phénotypiques et génétiques de différentes cohortes de patients parkinsoniens, afin de tester l’association entre les variantes génétiques, les gènes ou les circuits biologiques et les TCI par des approches candidates et pangénomiques. Toutes les données ont été soigneusement standardisées et contrôlées pour prévenir d’éventuels biais.Nous avons identifié plusieurs gènes et circuits biologiques intéressants qui pourraient apporter des informations importantes sur les mécanismes moléculaires des TCI dans la MP et contribuer à prévenir leur apparition, en prédisant le risque individuel de développer des TCI, mais aussi en identifiant de nouvelles cibles thérapeutiques potentielles
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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