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Alan Hodgkinson, Jean-Christophe Grenier, Elias Gbeha, Philip Awadalla
BACKGROUND: Allele specific expression (ASE) has become an important phenotype, being utilized for the detection of cis-regulatory variation, nonsense mediated decay and imprinting in the personal genome, and has been used to both identify disease loci and consider the penetrance of damaging alleles. The detection of ASE using high throughput technologies relies on aligning short-read sequencing data, a process that has inherent biases, and there is still a need to develop fast and accurate methods to detect ASE given the unprecedented growth of sequencing information in big data projects...
September 13, 2016: BMC Bioinformatics
Rémi Goupil, Dominique Dupuis, Stéphan Troyanov, François Madore, Mohsen Agharazii
OBJECTIVES: Central hemodynamic parameters are better predictors of the cardiovascular burden than peripheral blood pressure (BP). Beta-blockers are known to reduce central BP to a lesser extent than peripheral BP, a hypothesized mechanistic consequence of heart rate (HR) reduction. METHODS: The association between beta-blocker use, HR and central hemodynamics indices was studied in treated hypertensive participants of the CARTaGENE study using propensity score analyses and multivariate linear regressions...
August 2016: Journal of Hypertension
Rémi Goupil, Dominique Dupuis, Mohsen Agharazii, Pavel Hamet, Stéphan Troyanov, François Madore
BACKGROUND: Vascular stiffness and advanced chronic kidney disease (CKD) are strong determinants of higher central blood pressure (BP) and are associated with high cardiovascular morbidity and mortality. Whether mild-to-moderate CKD is associated with higher central BP independently of other comorbid conditions remains uncertain. METHODS: We evaluated the central hemodynamic profile [central systolic BP, central pulse pressure (PP), augmentation index, PP amplification, augmented pressure] of Stage 3 CKD patients and compared it with participants with estimated glomerular filtration rate (eGFR) >60 mL/min/1...
April 13, 2016: Nephrology, Dialysis, Transplantation
Stéphan Troyanov, Catherine Delmas-Frenette, Guillaume Bollée, Sonia Youhanna, Vanessa Bruat, Philip Awadalla, Olivier Devuyst, François Madore
BACKGROUND AND OBJECTIVES: The urinary excretion of uromodulin is influenced by common variants in the UMOD gene, and it may be related to NaCl retention and hypertension. Levels of uromodulin are also dependent of the renal function, but other determinants remain unknown. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We tested associations between the urinary excretion of uromodulin; medical history and medication; serum and urinary levels of electrolytes, glucose, and uric acid; and the genotype at the UMOD/Protein Disulfide Isomerase-Like, Testis Expressed locus (rs4293393 and rs12446492); 943 participants from the CARTaGENE Cohort, a random sample from the Canadian population of 20,004 individuals, were analyzed...
January 7, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Gustavo P Calado, Alberto Jorge O Lopes, Livio M Costa Junior, Francisco das Chagas A Lima, Lucilene A Silva, Wanderson S Pereira, Flávia M M do Amaral, João Batista S Garcia, Maria do Socorro de S Cartágenes, Flávia R F Nascimento
The chronicity of osteoarthritis (OA), characterized by pain and inflammation in the joints, is linked to a glutamate receptor, N-methyl-D-aspartate (NMDA). The use of plant species such as Chenopodium ambrosioides L. (Amaranthaceae) as NMDA antagonists offers a promising perspective. This work aims to analyze the antinociceptive and anti-inflammatory responses of the crude hydroalcoholic extract (HCE) of C. ambrosioides leaves in an experimental OA model. Wistar rats were separated into six groups (n = 24): clean (C), negative control (CTL-), positive control (CTL+), HCE0...
2015: PloS One
Athayde Neves-Junior, Ana Carolina Cartágenes-Pinto, Débora A S Rocha, Leandro F Reis de Sá, Maria de Lourdes Junqueira, Antonio Ferreira-Pereira
Candidiasis has become an important concern for clinical practice, especially with the increasing incidence of immunocompromised patients. In this scenario, the development resistance to fluconazole presents a challenge for treating these opportunistic infections. The aim of this study was to evaluate some epidemiology features of Candida infections in a Brazilian University Hospital using data, previously unavailable. We observed that 44% of the 93 clinical isolates tested, belonged to Candida albicans species and 56% belonged to non-Candida albicans species (mainly Candida tropicalis and Candida glabrata)...
August 2015: Anais da Academia Brasileira de Ciências
Cristiano S Moura, Stella S Daskalopoulou, Linda E Levesque, Sasha Bernatsky, Michal Abrahamowicz, Meytal A Tsadok, Shadi Rajabi, Louise Pilote
Thiazide diuretics (TDs) are a cost-effective first-line therapy for uncomplicated hypertension; however, they are less prescribed than other options. The authors aimed to assess the noninferiority of TDs relative to different classes of antihypertensive medications in relation to central blood pressure. Cross-sectional data from the Quebec CARTaGENE project was used. Nondiabetic hypertensive participants on monotherapy for hypertension were studied. Separate adjusted models were constructed to establish noninferiority of TDs to non-TD antihypertensive medications for central blood pressure measurements...
November 2015: Journal of Clinical Hypertension
Rana El-Bikai, Muhammad R Tahir, Johanne Tremblay, Michel Joffres, Ondřej Šeda, Lucie Šedová, Philip Awadalla, Claude Laberge, Bartha-Maria Knoppers, Pierre Dumas, Daniel Gaudet, Louis-Georges Ste-Marie, Pavel Hamet
OBJECTIVE: Hypertension and osteoporosis are age-related health risks differentially expressed in men and women. Here we have analysed their prevalence in a randomly selected cross-sectional cohort [CARTaGENE (CaG) of Quebec, Canada and explored their existing relationships along with height, arterial stiffness and bone fractures. METHODS: The principal cohort CaG included 20 007 individuals of age 40-70 years. Participants were subjected to an extensive phenotyping and a questionnaire of medical history and habits...
April 2015: Journal of Hypertension
Julie G Hussin, Alan Hodgkinson, Youssef Idaghdour, Jean-Christophe Grenier, Jean-Philippe Goulet, Elias Gbeha, Elodie Hip-Ki, Philip Awadalla
Many decades of theory have demonstrated that, in non-recombining systems, slightly deleterious mutations accumulate non-reversibly, potentially driving the extinction of many asexual species. Non-recombining chromosomes in sexual organisms are thought to have degenerated in a similar fashion; however, it is not clear the extent to which damaging mutations accumulate along chromosomes with highly variable rates of crossing over. Using high-coverage sequencing data from over 1,400 individuals in the 1000 Genomes and CARTaGENE projects, we show that recombination rate modulates the distribution of putatively deleterious variants across the entire human genome...
April 2015: Nature Genetics
Rachel Melo Ribeiro, Vicente Férrer Pinheiro Neto, Kllysmann Santos Ribeiro, Denilson Amorim Vieira, Iracelle Carvalho Abreu, Selma do Nascimento Silva, Maria do Socorro de Sousa Cartágenes, Sônia Maria de Farias Freire, Antonio Carlos Romão Borges, Marilene Oliveira da Rocha Borges
This study evaluated the in vivo potential antihypertensive effect of hydroalcoholic extract of Syzygium cumini leaves (HESC) in normotensive Wistar rats and in spontaneously hypertensive rats (SHR), as well as its in vitro effect on the vascular reactivity of resistance arteries. The hypotensive effect caused by intravenous infusion of HESC (0.01-4.0 mg/kg) in anesthetized Wistar rats was dose-dependent and was partially inhibited by pretreatment with atropine sulfate. SHR received HESC (0.5 g/kg/day), orally, for 8 weeks and mean arterial pressure, heart rate, and vascular reactivity were evaluated...
2014: Evidence-based Complementary and Alternative Medicine: ECAM
Alan Hodgkinson, Youssef Idaghdour, Elias Gbeha, Jean-Christophe Grenier, Elodie Hip-Ki, Vanessa Bruat, Jean-Philippe Goulet, Thibault de Malliard, Philip Awadalla
Mutations in the mitochondrial genome are associated with multiple diseases and biological processes; however, little is known about the extent of sequence variation in the mitochondrial transcriptome. By ultra-deeply sequencing mitochondrial RNA (>6000×) from the whole blood of ~1000 individuals from the CARTaGENE project, we identified remarkable levels of sequence variation within and across individuals, as well as sites that show consistent patterns of posttranscriptional modification. Using a genome-wide association study, we find that posttranscriptional modification of functionally important sites in mitochondrial transfer RNAs (tRNAs) is under strong genetic control, largely driven by a missense mutation in MRPP3 that explains ~22% of the variance...
April 25, 2014: Science
Jacobien C Verhave, Stéphan Troyanov, Frédéric Mongeau, Lorraine Fradette, Josée Bouchard, Philip Awadalla, François Madore
BACKGROUND AND OBJECTIVES: It is uncertain how many patients with CKD and cardiovascular risk factors in publicly funded universal health care systems are aware of their disease and how to achieve their treatment targets. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The CARTaGENE study evaluated BP, lipid, and diabetes profiles as well as corresponding treatments in 20,004 random individuals between 40 and 69 years of age. Participants had free access to health care and were recruited from four regions within the province of Quebec, Canada in 2009 and 2010...
April 2014: Clinical Journal of the American Society of Nephrology: CJASN
Philip Awadalla, Catherine Boileau, Yves Payette, Youssef Idaghdour, Jean-Philippe Goulet, Bartha Knoppers, Pavel Hamet, Claude Laberge
The CARTaGENE (CaG) study is both a population-based biobank and the largest ongoing prospective health study of men and women in Quebec. In population-based cohorts, participants are not recruited for a particular disease but represent a random selection among the population, minimizing the need to correct for bias in measured phenotypes. CaG targeted the segment of the population that is most at risk of developing chronic disorders, that is 40-69 years of age, from four metropolitan areas in Quebec. Over 20,000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables...
October 2013: International Journal of Epidemiology
S Fortin, S Pathmasiri, R Grintuch, M Deschênes
This decade is witnessing the proliferation of large-scale population-based biobanks. Many biobanks have reached the stage of offering access to their collection of data and samples to the scientific community. This, however, requires that access arrangements be established to govern the relationship between biobanks and users. Access arrangements capture the convergence of all normative elements in the life cycle of a biobank: policies, laws, common practices, commitments made by the biobank to participants, the expectations of funders, and the needs of the scientific community...
2011: Public Health Genomics
Maged N Kamel Boulos, Jeffrey Warren, Jianya Gong, Peng Yue
HTML5 is being developed as the next major revision of HTML (Hypertext Markup Language), the core markup language of the World Wide Web. It aims at reducing the need for proprietary, plug-in-based rich Internet application (RIA) technologies such as Adobe Flash. The canvas element is part of HTML5 and is used to draw graphics using scripting (e.g., JavaScript). This paper introduces Cartagen, an open-source, vector-based, client-side framework for rendering plug-in-free, offline-capable, interactive maps in native HTML5 on a wide range of Web browsers and mobile phones...
2010: International Journal of Health Geographics
Vivian D'Annibale Cartágenes, Luísa Carício Martins, Lígia Maia Carneiro, Katarine Antonia dos Santos Barile, Tereza Cristina Corvelo
The prevalence of Helicobacter pylori infection was investigated in blood samples from 100 children aged 1 to 12 years and from their mothers, by means of the indirect hemagglutination and anti-CagA methods, using ELISA assays. From these 100 children, 79 stool samples were obtained and bacterial antigens in the stools were investigated using capture ELISA. The antigens were detected in 54.4% (43/79) of the children, and serum antibodies in 43% (34/79). These methods presented similar performance, with greatest disagreement among the children aged 1 to 4 years...
May 2009: Revista da Sociedade Brasileira de Medicina Tropical
Helen Belefant-Miller, Cindy Ledbetter, Selester Bennett
The extraction of RNA from a starchy plant material, such as many common food grains, is difficult, and especially so from the mature endosperm of rice. Most commercial RNA kits are not suitable for starchy materials. Traditional RNA extraction procedures, in addition to being laborious and time consuming, leave hazardous organic wastes that result in expensive disposal costs. Interestingly, the numerous commercial DNA isolation kits now available often include directions for eliminating co-isolated RNA. This indicated an approach to obtain the generally unwanted RNA by-product by treating the total extraction product to intentionally retain RNA...
March 2008: Biotechnology Journal
Béatrice Godard, Jennifer Marshall, Claude Laberge
OBJECTIVE: This paper presents the results of the first public consultation for the creation of a large-scale genetic database, the Quebec CARTaGENE project. A consultation has been undertaken in order to gauge whether the general public is receptive to the project. An integral part of the approach of the researchers is to establish a dialogue with the public. METHODS: Two independent expert groups have carried out qualitative and quantitative studies measuring knowledge of and interest in genetics, incentives and obstacles to CARTaGENE participation and comprehension and evaluation of the communication tools...
2007: Community Genetics
Yann Joly, Bartha M Knoppers
This perspective report will focus on the ethical, legal and social issues raised by pharmacogenomic research using large population-based databases. Access to databases established or developed at the level of whole populations or communities (e.g., the Estonian Genome Project, the UK Biobank, CARTaGENE, GenomEUtwin, and so on) will become increasingly important in pharmacogenomic research for the purpose of confirming associations between genetic variations and drug-related effects. The capacity of database creators and managers, along with that of researchers, to meet the ethical issues raised by such vast public projects will determine the integration of pharmacogenomics into mainstream clinical practice...
March 2006: Pharmacogenomics
V I Kobylianskiĭ
Functional and morphological studies of the mucociliary system in primary ciliary dyskinesia were conducted using a model of the Zivert-Cartagener syndrome. They established the specific features of the mucociliary system and the expediency of a direct evaluation of mucociliary clearance by a non-invasive method in vivo, by taking into account the pronounced degree of mucociliary insufficiency. This makes it possible, no matter whether the situs inversus is absent or present, to reduce a cumbersome diagnostic complex usually used to verify this pathology and to undertake a study of the ultrastructure of bronchial epithelial cilia immediately...
2004: Klinicheskaia Meditsina
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