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View article: Disentangling the effects of sex and gender on <i>APOE</i> ɛ4–related neurocognitive impairment
Disentangling the effects of sex and gender on <i>APOE</i> ɛ4–related neurocognitive impairment Open
INTRODUCTION The apolipoprotein E ( APOE ) ɛ4 allele is a well‐established risk factor for neurocognitive impairment (NCI), with varying impacts between men and women. This study investigates the distinct roles of sex and gender in modifyi…
View article: A genome-wide study of the effect of alcohol consumption on the risk of type 2 diabetes
A genome-wide study of the effect of alcohol consumption on the risk of type 2 diabetes Open
Summary: Background & Aims: The relationship between alcohol consumption and type 2 diabetes risk is often described as a J- or U-shaped curve, with moderate drinkers having a lower risk compared to non-drinkers and heavy drinkers. However…
View article: The role of genetically predicted serum iron levels on neurodegenerative and cardiovascular traits
The role of genetically predicted serum iron levels on neurodegenerative and cardiovascular traits Open
Iron is an essential mineral that supports numerous biological functions. Studies have reported associations between iron dysregulation and certain cardiovascular and neurodegenerative diseases, but the direction of influence is not clear.…
View article: Reduction of clonal hematopoiesis mutation burden in coronary patients treated with low-dose colchicine
Reduction of clonal hematopoiesis mutation burden in coronary patients treated with low-dose colchicine Open
Clonal hematopoiesis involves mutations in hematopoietic stem/progenitor cells, which increase the risk of cardiovascular disease, particularly under pro-inflammatory conditions. This study assessed the impact of the anti-inflammatory medi…
View article: A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol
A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol Open
Cohort studies have identified several genetic determinants that could predict the clinical response to allopurinol. However, they have not been commonly used for genome-wide investigations to identify genetic determinants on allopurinol m…
View article: A Genomewide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol
A Genomewide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol Open
Cohort studies have identified several genetic determinants that could predict the clinical response to allopurinol. However, they have not been commonly used for genome-wide investigations to identify genetic determinants on allopurinol m…
View article: GR.2 A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
GR.2 A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia Open
Background: The late-onset cerebellar ataxias (LOCAs) have until recently resisted molecular diagnosis. Contributing to this diagnostic gap is that non-coding structural variations, such as repeat expansions, are not fully accessible to st…
View article: Interplay between hereditary and acquired factors determines the neutrophil counts in older individuals
Interplay between hereditary and acquired factors determines the neutrophil counts in older individuals Open
Blood cell production is a complex process, partly genetically determined and influenced by acquired factors. However, there is a paucity of data on how these factors interplay in the context of aging, which is associated with a myeloid pr…
View article: Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia Open
A dominantly inherited deep intronic GAA repeat expansion in FGF14 was found to be associated with LOCA. (Funded by Fondation Groupe Monaco and others.).
View article: Pharmacogenomic study of heart failure and candesartan response from the CHARM programme
Pharmacogenomic study of heart failure and candesartan response from the CHARM programme Open
Aims The Candesartan in Heart failure Assessment of Reduction in Mortality and morbidity (CHARM) programme consisted of three parallel, randomized, double‐blind clinical trials comparing candesartan with placebo in patients with heart fail…
View article: Pharmacogenomic study of heart failure and candesartan response from the CHARM programme
Pharmacogenomic study of heart failure and candesartan response from the CHARM programme Open
Aims The Candesartan in Heart failure Assessment of Reduction in Mortality and morbidity (CHARM) programme consisted of three parallel, randomised, double-blind clinical trials comparing candesartan with placebo in patients with heart fail…
View article: Genetics of symptom remission in outpatients with COVID-19
Genetics of symptom remission in outpatients with COVID-19 Open
View article: Genetics of symptom remission in outpatients with COVID-19
Genetics of symptom remission in outpatients with COVID-19 Open
We conducted a genome-wide association study of time to remission of COVID-19 symptoms in 1723 outpatients with at least one risk factor for disease severity from the COLCORONA clinical trial. We found a significant association at 5p13.3 (…
View article: Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT
Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT Open
Background: The randomized, placebo-controlled COLCOT (Colchicine Cardiovascular Outcomes Trial) has shown the benefits of colchicine 0.5 mg daily to lower the rate of ischemic cardiovascular events in patients with a recent myocardial inf…
View article: A genetic association study of heart failure: more evidence for the role of BAG3 in idiopathic dilated cardiomyopathy
A genetic association study of heart failure: more evidence for the role of BAG3 in idiopathic dilated cardiomyopathy Open
Aims Few investigations have been conducted to identify genetic determinants of common, polygenetic forms of heart failure (HF), and only a limited number of these genetic associations have been validated by multiple groups. Methods and re…
View article: A genetic model of ivabradine recapitulates results from randomized clinical trials
A genetic model of ivabradine recapitulates results from randomized clinical trials Open
Genetic modelling of ivabradine recapitulates its benefits in heart failure, promotion of atrial fibrillation, and neutral effect on myocardial infarction.
View article: High-sensitivity C-reactive protein is associated with clonal hematopoiesis of indeterminate potential
High-sensitivity C-reactive protein is associated with clonal hematopoiesis of indeterminate potential Open
Clonal hematopoiesis of indeterminate potential (CHIP) is predictive of hematological cancers and cardiovascular diseases, but the etiology of CHIP initiation and clonal expansion is unknown. Several lines of evidence suggest that proinfla…
View article: A genetic model of ivabradine recapitulates results from randomized clinical trials
A genetic model of ivabradine recapitulates results from randomized clinical trials Open
Background Naturally occurring human genetic variants provide a valuable tool to identify drug targets and guide drug prioritization and clinical trial design. Ivabradine is a heart rate lowering drug with protective effects on heart failu…
View article: Rationale, design, and preliminary results of the Quebec Warfarin Cohort Study
Rationale, design, and preliminary results of the Quebec Warfarin Cohort Study Open
Over‐ and undercoagulation with warfarin are associated with hemorrhagic and thromboembolic events, respectively. Genetic and clinical factors affect warfarin response, and the causes of this variability remain unclear. We present descript…
View article: Effets sur les patients des variations dans l’implantation d’un programme d’intervention sur le risque cardiométabolique à Montréal
Effets sur les patients des variations dans l’implantation d’un programme d’intervention sur le risque cardiométabolique à Montréal Open
Introduction En 2011, l’Agence de la santé et des services sociaux de Montréal (ASSSM), en partenariat avec les Centres de santé et de services sociaux (CSSS) de la région, a coordonné la mise en oeuvre d’un programme sur le risque cardio…
View article: Effects on patients of variations in the implementation of a cardiometabolic risk intervention program in Montréal
Effects on patients of variations in the implementation of a cardiometabolic risk intervention program in Montréal Open
Introduction In 2011, the Agence de la santé et des services sociaux de Montréal (ASSSM), in partnership with the region’s Centres de santé et de services sociaux (CSSS), coordinated the implementation of a program on cardiometabolic risk…
View article: Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort
Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort Open
Warfarin is primarily metabolized by cytochrome 2C9, encoded by gene CYP2C9. Here, we investigated whether variants in nuclear receptor genes which regulate the expression of CYP2C9 are associated with warfarin response. We used data from …
View article: Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent Open
Purpose: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. Methods: A complete ophthalmic evaluation including measurement of visual …
View article: What can organizations do to improve family physicians' interprofessional collaboration? Results of a survey of primary care in Quebec.
What can organizations do to improve family physicians' interprofessional collaboration? Results of a survey of primary care in Quebec. Open
There is room for improvement regarding interprofessional collaboration in primary health care, especially between FPs and nonphysician professionals. Organizations that manage patients with more chronic diseases collaborate more with both…
View article: Explaining time elapsed prior to cancer diagnosis: patients’ perspectives
Explaining time elapsed prior to cancer diagnosis: patients’ perspectives Open
View article: DNMT3A and TET2 dominate clonal hematopoiesis and demonstrate benign phenotypes and different genetic predispositions
DNMT3A and TET2 dominate clonal hematopoiesis and demonstrate benign phenotypes and different genetic predispositions Open
Key Points Somatic mutations driving clonal hematopoiesis occur mainly in DNMT3A and TET2 and have no significant impact on hematological phenotypes. There is a familial predisposition to acquire TET2 mutation.
View article: Methylomic changes in individuals with psychosis, prenatally exposed to endocrine disrupting compounds: Lessons from diethylstilbestrol
Methylomic changes in individuals with psychosis, prenatally exposed to endocrine disrupting compounds: Lessons from diethylstilbestrol Open
BackgroundIn the Western world, between 1940 and 1970, more than 2 million people were exposed in utero to diethylstilbestrol (DES). In exposed individuals, and in their descendants, adverse outcomes have been linked to such exposur…
View article: Implementation of an integrated primary care cardiometabolic risk prevention and management network in Montréal: does greater coordination of care with primary care physicians have an impact on health outcomes?
Implementation of an integrated primary care cardiometabolic risk prevention and management network in Montréal: does greater coordination of care with primary care physicians have an impact on health outcomes? Open
Introduction Chronic disease management requires substantial services integration. A cardiometabolic risk management program inspired by the Chronic Care Model was implemented in Montréal for patients with diabetes or hypertension. One of…
View article: Mise en oeuvre d’un réseau intégré de prévention et de gestion du risque cardiométabolique en première ligne à Montréal : une plus grande coordination des soins avec les médecins de première ligne a-t-elle un impact sur les résultats de santé?
Mise en oeuvre d’un réseau intégré de prévention et de gestion du risque cardiométabolique en première ligne à Montréal : une plus grande coordination des soins avec les médecins de première ligne a-t-elle un impact sur les résultats de santé? Open
Introduction La gestion des maladies chroniques nécessite une grande intégration des services. Un programme de gestion du risque cardiométabolique inspiré du Chronic Care Model a été implanté à Montréal pour les patients atteints de diabè…
View article: Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease Open