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Efficacy of sweet solutions for analgesia in infants between 1 and 12 months of age: a systematic review

HARRISON, Denise; STEVENS, Bonnie; Bueno, Mariana; YAMADA, Janet; ADAMS-WEBBER, Thomasin; BEYENE, Joseph; OHLSSON, Arne
Fonte: B M J PUBLISHING GROUP Publicador: B M J PUBLISHING GROUP
Tipo: Artigo de Revista Científica
Português
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Objective To compare the efficacy of oral sweet solutions to water or no treatment in infants aged 1-12 months during immunisation. Methods Randomised controlled trials (RCTs) were retrieved through internet searches or manual searches of reference lists. Search terms included newborn, infant, pain, sucrose and alternative names for sweet solutions. Summary estimates with 95% CIs were calculated and included relative risk (RR), risk difference (RD) and number needed to treat to benefit (NNTB) for dichotomous outcomes, and weighted mean differences (WMD) for continuous outcomes. Where pooling of results was not possible, a narrative summary of study results is presented. Results Of the 695 studies identified, 14 RCTs with 1674 injections met the inclusion criteria. Sucrose or glucose, compared to water or no treatment decreased crying during or following immunisation in 13 of the 14 studies. Infants receiving 30% glucose (three trials, 243 infants) had a decreased RR in crying incidence following immunisation (typical RR 0.80, 95% CI 0.69 to 0.93; RD -0.17, 95% CI -0.29 to -0.05; NNTB 6, 95% CI 3 to 20). With sucrose or glucose, there was a 10% WMD reduction in proportion of crying time (95% CI - 18 to - 2) and a 12 s reduction in crying duration (95% CI - 23 to -0.7 s). An optimal dose of sucrose or glucose could not be ascertained due to the varied volumes and concentrations used. Conclusion Infants aged 1-12 months administered sucrose or glucose before immunisation had moderately reduced incidence and duration of crying. Healthcare professionals should consider using sucrose or glucose before and during immunisation.; The Pain in Child Health Strategic Training Initiative[STP53885]; Canadian Institutes of Health Research (CIHR)[CTP-79854]; Canadian Institutes of Health Research (CIHR)[MOP-86605]; Canadian Institutes of Health Research (CIHR)[KRS91774]

Dysautonomia due to reduced cholinergic neurotransmission causes cardiac remodeling and heart failure

Lara, Aline; Damasceno, Denis D.; Pires, Rita; Gros, Robert; Gomes, Eneas R.; Gavioli, Mariana; Lima, Ricardo F.; Guimarães, Diogo; Lima, Patricia; Bueno Junior, Carlos Roberto; Vasconcelos, Anilton; Roman-Campos, Danilo; Menezes, Cristiane A. S.; Sirven
Fonte: AMER SOC MICROBIOLOGY Publicador: AMER SOC MICROBIOLOGY
Tipo: Artigo de Revista Científica
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Overwhelming evidence supports the importance of the sympathetic nervous system in heart failure. In contrast, much less is known about the role of failing cholinergic neurotransmission in cardiac disease. By using a unique genetically modified mouse line with reduced expression of the vesicular acetylcholine transporter (VAChT) and consequently decreased release of acetylcholine, we investigated the consequences of altered cholinergic tone for cardiac function. M-mode echocardiography, hemodynamic experiments, analysis of isolated perfused hearts, and measurements of cardiomyocyte contraction indicated that VAChT mutant mice have decreased left ventricle function associated with altered calcium handling. Gene expression was analyzed by quantitative reverse transcriptase PCR and Western blotting, and the results indicated that VAChT mutant mice have profound cardiac remodeling and reactivation of the fetal gene program. This phenotype was attributable to reduced cholinergic tone, since administration of the cholinesterase inhibitor pyridostigmine for 2 weeks reversed the cardiac phenotype in mutant mice. Our findings provide direct evidence that decreased cholinergic neurotransmission and underlying autonomic imbalance cause plastic alterations that contribute to heart dysfunction.; Heart and Stroke Foundation of Ontario[NA 6656]; CIHR[MOP-82756]; CIHR[MOP-89919]; NIH-Fogarty[R21 TW007800-02]; PRONEX-FAPEMIG; CNPq; FAPEMIG; Instituto do Milenio Toxins/MCT; Department of Foreign Affairs and International Trade (Canada); Heart and Stroke Foundation of Canada

Dysregulation of renal transient receptor potential melastatin 6/7 but not paracellin-1 in aldosterone-induced hypertension and kidney damage in a model of hereditary hypomagnesemia

YOGI, Alvaro; CALLERA, Glaucia E.; O`CONNOR, Sarah E.; HE, Ying; CORREA, Jose W.; TOSTES, Rita C.; MAZUR, Andrzej; TOUYZ, Rhian M.
Fonte: LIPPINCOTT WILLIAMS & WILKINS Publicador: LIPPINCOTT WILLIAMS & WILKINS
Tipo: Artigo de Revista Científica
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Rationale Hyperaldosteronism, important in hypertension, is associated with electrolyte alterations, including hypomagnesemia, through unknown mechanisms. Objective To test whether aldosterone influences renal Mg(2+) transporters, (transient receptor potential melastatin (TRPM) 6, TRPM7, paracellin-1) leading to hypomagnesemia, hypertension and target organ damage and whether in a background of magnesium deficiency, this is exaggerated. Methods and results Aldosterone effects in mice selectively bred for high-normal (MgH) or low (MgL) intracellular Mg(2+) were studied. Male MgH and MgL mice received aldosterone (350 mu g/kg per day, 3 weeks). SBP was elevated in MgL. Aldosterone increased blood pressure and albuminuria and increased urinary Mg(2+) concentration in MgH and MgL, with greater effects in MgL. Activity of renal TRPM6 and TRPM7 was lower in vehicle-treated MgL than MgH. Aldosterone increased activity of TRPM6 in MgH and inhibited activity in MgL. TRPM7 and paracellin-1 were unaffected by aldosterone. Aldosterone-induced albuminuria in MgL was associated with increased renal fibrosis, increased oxidative stress, activation of mitogen-activated protein kinases and nuclear factor-NF-kappa B and podocyte injury. Mg(2+) supplementation (0.75% Mg(2+)) in aldosterone-treated MgL normalized plasma Mg(2+)...

Prolonged exposure to palmitate impairs fatty acid oxidation despite activation of AMP-activated protein kinase in skeletal muscle cells

PIMENTA, A. S.; GAIDHU, M. P.; HABIB, S.; SO, M.; FEDIUC, S.; MIRPOURIAN, M.; MUSHEEV, M.; Curi, Rui; CEDDIA, R. B.
Fonte: WILEY-LISS Publicador: WILEY-LISS
Tipo: Artigo de Revista Científica
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The aim of this study was to investigate the chronic effects of palmitate on fatty acid (FA) oxidation, AMPK/ACC phosphorylation/activation, intracellular lipid accumulation, and the molecular Mechanisms involved in these processes in skeletal muscle cells. Exposure of L6 myotubes for 8 h to 200, 400, 600, and 800 mu M of palmitate did rot affect cel viability but significantly reduced FA oxidation by similar to 26.5%, similar to 43.5%, similar to 50%, and similar to 47%, respectively. Interestingly, this occurred despite significant increases in AMPK (similar to 2.5-fold) and ACC (similar to 3-fold) phosphorylation and in malonyl-CoA decarboxylase activity (similar to 38-60%). Low concentrations of palmitate (50-100 mu M) caused an increase (similar to 30%) in CPT-I activity. However, as the concentration of palmitate increased, CPT-I activity decreased by similar to 32% after exposure for 8 h to 800 mu M of palmitate. Although FA uptake was reduced (similar to 35%) in cells exposed to increasing, palmitate concentrations, intracellular lipid accumulation increased in a dose-dependent manner, reaching values similar to 2.3-, similar to 3-, and 4-fold higher than control in muscle cells exposed to 400, 600, and 800 mu M palmitate, respectively. Interestingly...

Effects of Exercise Training on Hepatic Microsomal Triglyceride Transfer Protein Content in Rats

CHAPADOS, N. A.; SEELAENDER, M.; LEVY, E.; LAVOIE, J-M.
Fonte: GEORG THIEME VERLAG KG Publicador: GEORG THIEME VERLAG KG
Tipo: Artigo de Revista Científica
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Microsomal triglyceride transfer protein (MTP) is a protein that exerts a central regulatory role in very-low-density lipoprotein (VLDL) assembly and secretion. The purpose of the study was to investigate the effects of all exercise-training program oil hepatic content of MTP and its relation to hepatic VLDL-triglyceride (VLDL-TG) production in response to lipid infusion. Female rats either fed a standard (SD) or all obesity-induced high-fat (HF; 43% as energy) diet for 8 weeks were Subdivided into sedentary (Sed) and trained (Tr) groups. Exercise training consisted Of Continuous running on a motor-driven rodent treadmill 5 times/week for 8 weeks. At the end of this period, all rats in the fasted state were intravenously infused with a 20% Solution of intralipid for 3 h followed by all injection of Triton WR1339 to block lipoprotein lipase. An additional control grout) consisting of Sed rats fed the SD diet was infused with saline (0.9% NaCl). Plasma TG accumulation was thereafter measured during 90 min to estimate VLDL-TG production. Under HF diet, hepatic MTP content and plasma TG accumulation after Triton blockade (thus reflecting VLDL-TG synthesis and secretion) were not changed in Sed rats, whereas liver TG content was highly increased (similar to 90%; p<0.01). Oil the other hand...

Metabotropic glutamate receptors transduce signals for neurite outgrowth after binding of the prion protein to laminin gamma 1 chain

BERALDO, Flavio H.; ARANTES, Camila P.; SANTOS, Tiago G.; MACHADO, Cleiton F.; ROFFE, Martin; HAJJ, Glaucia N.; LEE, Kil S.; MAGALHAES, Ana C.; CAETANO, Fabiana A.; MANCINI, Gabriel. L.; LOPES, Marilene H.; AMERICO, Tatiana A.; MAGDESIAN, Margaret H.; FER
Fonte: FEDERATION AMER SOC EXP BIOL Publicador: FEDERATION AMER SOC EXP BIOL
Tipo: Artigo de Revista Científica
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The prion protein (PrP(C)) is highly expressed in the nervous system, and its abnormal conformer is associated with prion diseases. PrP(C) is anchored to cell membranes by glycosylphosphatidylinositol, and transmembrane proteins are likely required for PrP(C)-mediated intracellular signaling. Binding of laminin (Ln) to PrP(C) modulates neuronal plasticity and memory. We addressed signaling pathways triggered by PrP(C)-Ln interaction in order to identify transmembrane proteins involved in the transduction of PrP(C)-Ln signals. The Ln gamma 1-chain peptide, which contains the Ln binding site for PrP(C), induced neuritogenesis through activation of phospholipase C (PLC), Ca(2+) mobilization from intracellular stores, and protein kinase C and extracellular signal-regulated kinase (ERK1/2) activation in primary cultures of neurons from wild-type, but not PrP(C)-null mice. Phage display, coimmunoprecipitation, and colocalization experiments showed that group I metabotropic glutamate receptors (mGluR1/5) associate with PrP(C). Expression of either mGluR1 or mGluR5 in HEK293 cells reconstituted the signaling pathways mediated by PrP(C)-Ln gamma 1 peptide interaction. Specific inhibitors of these receptors impaired PrP(C)-Ln gamma 1 peptide-induced signaling and neuritogenesis. These data show that group I mGluRs are involved in the transduction of cellular signals triggered by PrP(C)-Ln...

Oncostatin M is a novel glucocorticoid-dependent neuroinflammatory factor that enhances oligodendrocyte precursor cell activity in demyelinated sites

GLEZER, Isaias; RIVEST, Serge
Fonte: ACADEMIC PRESS INC ELSEVIER SCIENCE Publicador: ACADEMIC PRESS INC ELSEVIER SCIENCE
Tipo: Artigo de Revista Científica
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The innate immune reaction to tissue injury is a natural process, which can have detrimental effects in the absence of negative feedbacks by glucocorticoids (GCs). Although acute lipopolysaccharide (LPS) challenge is relatively harmless to the brain parenchyma of adult animals, the endotoxin is highly neurotoxic in animals that are treated with the GC receptor antagonist RU486. This study investigated the role of cytokines of the gp130-related family in these effects, because they are essential components of the inflammatory process that provide survival signals to neurons. Intracerebral LPS injection stimulated expression of several members of this family of cytokines, but oncostatin M (Osm) was the unique ligand to be completely inhibited by the RU486 treatment. OSM receptor (Osmr) is expressed mainly in astrocytes and endothelial cells following LPS administration and GCs are directly responsible for its transcriptional activation in the presence of the endotoxin. In a mouse model of demyelination, exogenous OSM significantly modulated the expression of genes involved in the mobilization of oligodendrocyte precursor cells (OPCs), differentiation of oligodendrocyte, and production of myelin. In conclusion, the activation of OSM signaling is a mechanism activated by TLR4 in the presence of negative feedback by GCs on the innate immune system of the brain. OSM absence is associated with detrimental effects of LPS...

Dental calculus formation in children and adolescents undergoing hemodialysis

Martins, Carla; Siqueira, Walter Luiz; Oliveira, Elizabeth; Nicolau, Jose; Primo, Laura Guimaraes
Fonte: SPRINGER; NEW YORK Publicador: SPRINGER; NEW YORK
Tipo: Artigo de Revista Científica
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This study aimed to determine whether dental calculus formation is really higher among patients with chronic kidney disease undergoing hemodialysis than among controls. Furthermore, the study evaluated correlations between dental calculus formation and dental plaque, variables that are related to renal disease and/or saliva composition. The Renal Group was composed of 30 patients undergoing hemodialysis, whereas the Healthy Group had 30 clinically healthy patients. Stimulated whole saliva and parotid saliva were collected. Salivary flow rate and calcium and phosphate concentrations were determined. In the Renal Group the saliva collection was carried out before and after a hemodialysis session. Patients from both groups received intraoral exams, oral hygiene instructions, and dental scaling. Three months later, the dental calculus was measured by the Volpe-Manhold method to determine the rate of dental calculus formation. The Renal Group presented a higher rate of dental calculus formation (p < 0.01). Correlation was observed between rate of dental calculus formation and whole saliva flow rate in the Renal Group after a hemodialysis session (r = 0.44, p < 0.05). The presence of dental calculus was associated with phosphate concentration in whole saliva from the Renal Group (p < 0.05). In conclusion...

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Hood, Rebecca L.; Lines, Matthew A.; Nikkel, Sarah M.; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Malgorzata J. M.; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S.; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whitefo
Fonte: CELL PRESS; CAMBRIDGE Publicador: CELL PRESS; CAMBRIDGE
Tipo: Artigo de Revista Científica
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Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic MS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS.; government of Canada through Genome Canada; government of Canada through Genome Canada; Canadian Institutes of Health Research (CIHR); Canadian Institutes of Health Research (CIHR); Ontario Genomics Institute [OGI-049]; Ontario Genomics Institute; Genome Quebec; Genome Quebec; Genome British Columbia; Genome British Columbia; CIHR Institute of Genetics; CIHR Institute of Genetics

Quantitative Proteomic Analysis of the Effect of Fluoride on the Acquired Enamel Pellicle

Siqueira, Walter L.; Bakkal, Meltem; Xiao, Yizhi; Sutton, Jennifer N.; Mendes, Fausto M.
Fonte: PUBLIC LIBRARY SCIENCE; SAN FRANCISCO Publicador: PUBLIC LIBRARY SCIENCE; SAN FRANCISCO
Tipo: Artigo de Revista Científica
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The acquired enamel pellicle (AEP) is a thin film formed by the selective adsorption of salivary proteins onto the enamel surface of teeth. The AEP forms a critical interface between the mineral phase of teeth (hydroxyapatite) and the oral microbial biofilm. This biofilm is the key feature responsible for the development of dental caries. Fluoride on enamel surface is well known to reduce caries by reducing the solubility of enamel to acid. Information on the effects of fluoride on AEP formation is limited. This study aimed to investigate the effects of fluoride treatment on hydroxyapatite on the subsequent formation of AEP. In addition, this study pioneered the use of label-free quantitative proteomics to better understand the composition of AEP proteins. Hydroxyapatite discs were randomly divided in 4 groups (n = 10 per group). Each disc was exposed to distilled water (control) or sodium fluoride solution (1, 2 or 5%) for 2 hours. Discs were then washed and immersed in human saliva for an additional 2 hours. AEP from each disc was collected and subjected to liquid chromatography electrospray ionization mass spectrometry for protein identification, characterization and quantification. A total of 45 proteins were present in all four groups...

The Institute of Musculoskeletal Health and Arthritis (IMHA) Knowledge Exchange Task Force: An Innovative Approach to Knowledge Translation

Brachaniec, Mary; Tillier, William; Dell, Flora
Fonte: Canadian Chiropractic Association Publicador: Canadian Chiropractic Association
Tipo: Artigo de Revista Científica
Publicado em /03/2006 Português
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This article will introduce the concept of Knowledge Translation (KT), as defined and used by the Canadian Institutes of Health Research (CIHR). The Institute of Musculoskeletal Health and Arthritis (IMHA), one of the 13 institutes under the umbrella of CIHR, has created the Knowledge Exchange Task Force (KETF) to research KT and to determine how to best develop and implement KT initiatives within the Canadian research milieu. Task Force goals, objectives and activities will be outlined and summarized in poster form. KETF Members, or Research Ambassadors, will be recognized, along with the names of their Parent Organizations. The paper will detail the process of KT, as defined by CIHR, and a promising KT project created by IMHA to build communication pathways between scientific researchers, consumers and multiple stakeholders with the ultimate goal of improving the quality of life of all Canadians.

Building Canada’s health research capacity within the framework of the Canadian Institutes of Health Research

Benzies, Karen M; Barnes, David; Clifford, Tammy; Bouayad, Asmaa; Hardy, Dan; Korneluk, Yolanda; Marrache, Anne Marilise; McCusker, Christine; Miller, Steven; Ring, Todd; Walker, Mark; Waterhouse, Chris
Fonte: Pulsus Group Inc Publicador: Pulsus Group Inc
Tipo: Artigo de Revista Científica
Publicado em /10/2001 Português
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The establishment of the Canadian Institutes of Health Research (CIHR) generated considerable excitement about the capacity for health research in Canada. The long term success of the CIHR will be determined, in part, by its ability to recruit, train and retain a cadre of talented researchers. During a workshop to develop the research agenda for one of the proposed institutes within the CIHR, a national, multidisciplinary group of clinical and basic science research trainees were invited to present their views about the challenges that face Canadian researchers of tomorrow. The objective of this paper is to present the challenges associated with recruiting, training and retaining health researchers, and to identify new opportunities provided by the creation of the CIHR. The present paper concludes with suggestions that may improve the success of researchers and, ultimately, the success of the CIHR.

Strategically Investing in Health Research: The Little-Big Program Called RPP

Moody-Corbett, Penny
Fonte: Longwoods Publishing Publicador: Longwoods Publishing
Tipo: Artigo de Revista Científica
Publicado em /02/2014 Português
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The Regional Partnerships Program (RPP) was a program of the Canadian Institutes of Health Research (CIHR) and six provinces – Saskatchewan, Manitoba, New Brunswick, Nova Scotia, Prince Edward Island, and Newfoundland and Labrador. CIHR and each province contributed 50% to support health research that was recommended for funding by peer review but fell below the CIHR budgetary cut-off for funding. The provinces would like to commend CIHR for this strategic initiative and highlight the impact that small investment like RPP has had on engaging these provinces in the health research enterprise and expanding health research and its benefits across the country.

CIHR canadian HIV trials network HIV workshop: ethical research through community participation and strengthening scientific validity

Mbuagbaw, Lawrence; Slogrove, Amy; Sas, Jacqueline; Kunda, John; Morfaw, Frederick; Mukonzo, Jackson; Thabane, Lehana
Fonte: The African Field Epidemiology Network Publicador: The African Field Epidemiology Network
Tipo: Artigo de Revista Científica
Publicado em 19/09/2014 Português
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27.12%
The CIHR canadian HIV trials network mandate includes strengthening capacity to conduct and apply clinical research through training and mentoring initiatives of HIV researchers by building strong networks and partnerships on the African continent. At the17th International Conference on AIDS and Sexually Transmitted Infections in Africa (ICASA), the CTN facilitated a two-day workshop to address ethical issues in the conduct of HIV research, and career enhancing strategies for young African HIV researchers. Conference attendees were allowed to attend whichever session was of interest to them. We report on the topics covered, readings shared and participants’ evaluation of the workshop. The scientific aspects of ethical research in HIV and career enhancement strategies are relevant issues to conference attendees.

HIV-1 Vpr up-regulates expression of ligands for the activating NKG2D receptor and promotes NK cell-mediated killing

Richard, J.; Sindhu, S.; Pham, T.N.Q; Belzile, J.-P.; Cohen, É.A.
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Artigo de Revista Científica
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HIV upregulates cell-surface expression of specific ligands for the activating NKG2D receptor, including ULBP-1, -2, -3, but not MICA or MICB, in infected cells both in vitro and in vivo. However, the viral factor(s) involved in NKG2D ligand expression still remains undefined. HIV-1 Vpr activates the DNA damage/stress-sensing ATR kinase and promotes G2 cell-cycle arrest, conditions known to upregulate NKG2D ligands. We report here that HIV-1 selectively induces cell-surface expression of ULBP-2 in primary CD4+ T-lymphocytes by a process that is Vpr-dependent. Importantly, Vpr enhanced the susceptibility of HIV-1-infected cells to NK cell-mediated killing. Strikingly, Vpr alone was sufficient to upregulate expression of all NKG2D ligands and thus promoted efficient NKG2D-dependent NK cell-mediated killing. Delivery of virion-associated Vpr via defective HIV-1 particles induced analogous biological effects in non-infected target cells, suggesting that Vpr may act similarly beyond infected cells. All these activities relied on Vpr ability to activate the ATR-mediated DNA damage/stress checkpoint. Overall, these results indicate that Vpr is a key determinant responsible for HIV-1-induced upregulation of NKG2D ligands and further suggest an immunomodulatory role for Vpr that may not only contribute to HIV-1-induced CD4+ T-lymphocyte depletion but may also take part in HIV-1-induced NK cell dysfunction.; JR is recipient of a Frederick Banting and Charles Best scholarship from the Canadian Institutes of Health Research (CIHR) while JPB is recipient of a CIHR studentship. EAC holds the Canada Research Chair in Human Retrovirology. This work was supported by grants from CIHR and the Fonds de recherche en santé du Québec AIDS network to EAC.

The effectiveness of scoliosis screening programs: methods for systematic review and expert panel recommendations formulation

Quebec Scoliosis Society; Canadian Paediatric Spinal Deformities Study Group; Beauséjour, Marie; Goulet, Lise; Parent, Stefan; Ehrmann Feldman, Debbie; Turgeon, Isabelle; Roy-Beaudry, Marjolaine; Sosa, Jose Felix; Labelle, Hubert
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Artigo de Revista Científica
Português
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Background: Literature on scoliosis screening is vast, however because of the observational nature of available data and methodological flaws, data interpretation is often complex, leading to incomplete and sometimes, somewhat misleading conclusions. The need to propose a set of methods for critical appraisal of the literature about scoliosis screening, a comprehensive summary and rating of the available evidence appeared essential. METHODS: To address these gaps, the study aims were: i) To propose a framework for the assessment of published studies on scoliosis screening effectiveness; ii) To suggest specific questions to be answered on screening effectiveness instead of trying to reach a global position for or against the programs; iii) To contextualize the knowledge through expert panel consultation and meaningful recommendations. The general methodological approach proceeds through the following steps: Elaboration of the conceptual framework; Formulation of the review questions; Identification of the criteria for the review; Selection of the studies; Critical assessment of the studies; Results synthesis; Formulation and grading of recommendations in response to the questions. This plan follows at best GRADE Group (Grades of Recommendation...

Le libre accès pour les bibliothèques de la santé : des ressources à découvrir

Attia, Audrey; Constantinescu, Teodora
Fonte: Institut universitaire de gériatrie de Montréal ; Hôpital général juif (Montréal, Québec) Publicador: Institut universitaire de gériatrie de Montréal ; Hôpital général juif (Montréal, Québec)
Tipo: Communication, présentation / Paper, Presentation
Português
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Cette présentation s’adresse aux spécialistes de l’information du milieu de la santé et aborde les points suivants : 1. Le monde du « libre accès » : définitions et statistiques; 2. Utiliser les ressources en libre accès; 3. Publier en libre accès (politiques d’accès aux résultats de la recherche des IRSC et du FRSQ); 4. Rôles et opportunités pour les bibliothèques de la santé.; This talk is aimed at health information specialists and discusses the following aspects of Open Access: 1. The world of Open Access: definitions and statistics; 2. Using the resources; 3. Open Access publishing (CIHR and FRSQ policies on access to research outputs); 4. Roles and opportunities for health libraries.; ABSAUM ; MMAHLA

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Lines, Matthew A.; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L.; Lynch, Danielle C.; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Genevieve; H
Fonte: CELL PRESS; CAMBRIDGE Publicador: CELL PRESS; CAMBRIDGE
Tipo: Artigo de Revista Científica
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Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.; government of Canada through Genome Canada; government of Canada through Genome Canada; Canadian Institutes of Health Research (CIHR); Canadian Institutes of Health Research (CIHR); Ontario Genomics Institute; Ontario Genomics Institute [OGI-049]; Genome Quebec; Genome Quebec; Genome British Columbia; Genome British Columbia; Physicians Services Incorporated Foundation; Physicians' Services Incorporated Foundation; German Ministry of Research and Education [BMBF 01GM0802]; German Ministry of Education and Research; CIHR Institute of Genetics; CIHR Institute of Genetics

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Northcott, Paul A.; Shih, David J. H.; Peacock, John; Garzia, Livia; Morrissy, A. Sorana; Zichner, Thomas; Stuetz, Adrian M.; Korshunov, Andrey; Reimand, Jueri; Schumacher, Steven E.; Beroukhim, Rameen; Ellison, David W.; Marshall, Christian R.; Lionel, A
Fonte: NATURE PUBLISHING GROUP; LONDON Publicador: NATURE PUBLISHING GROUP; LONDON
Tipo: Artigo de Revista Científica
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Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.; CIHR Clinician-Scientist Phase II award; CIHR ClinicianScientist Phase II award; Sontag Foundation; Sontag Foundation; Pediatric Brain Tumour Foundation; Pediatric Brain Tumour Foundation; National Institutes of Health [CA159859]; National Institutes of Health; The Family of Kathleen Lorette; The Family of Kathleen Lorette; Clark H. Smith Brain Tumour Centre; Clark H. Smith Brain Tumour Centre; Montreal Childrens Hospital Foundation; Montreal Children's Hospital Foundation; Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre; Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre; Chief of Research Fund; Chief of Research Fund; Cancer Genetics Program; Cancer Genetics Program; Garron Family Cancer Centre; Garron Family Cancer Centre; B.R.A.I.N. Child; B.R.A.I.N. Child; CIHR [ATE-110814]; CIHR; University of Toronto McLaughlin Centre; University of Toronto McLaughlin Centre; CIHR Institute of Cancer Research [AT1-112286]; CIHR Institute of Cancer Research; BC Cancer Foundation; BC Cancer Foundation; Children's Discovery Institute; Childrens Discovery Institute; Restracomp Fellowship (Hospital for Sick Children); Restracomp Fellowship (Hospital for Sick Children); Ontario Institute for Cancer Research; Ontario Institute for Cancer Research; Government of Ontario; Government of Ontario; NIH; NIH [CA86335...

Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Lin, Wei-Yu; Camp, Nicola J.; Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L.; Apicella, Carmel; Stone, Jennifer; Schmidt, Marjanka K.; Broeks, Annegien; Van't Veer, Laura J.; Rutgers, Emiel J. Th.; Muir, Kenneth; Lophatananon,
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Article; accepted version
Português
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This is the accepted manuscript version. The final version is available from Oxford Journals at http://hmg.oxfordjournals.org/content/early/2014/08/28/hmg.ddu431.abstract.; Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single nucleotide polymorphisms (SNPs) spanning a 1Mb region around CASP8 were genotyped in 46,450 breast cancer cases and 42,600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1,232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10,052 case and 12,575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% CI)] for the minor allele of 1.05 (1.03-1.07)...