Search results for "Research Support"
showing 10 items of 46 documents
Etanercept treatment for extended oligoarticular juvenile idiopathic arthritis, enthesitis-related arthritis, or psoriatic arthritis : 6-year efficac…
2019
Background To describe the 6-year safety and efficacy of etanercept (ETN) in children with extended oligoarticular juvenile idiopathic arthritis (eoJIA), enthesitis-related arthritis (ERA), and psoriatic arthritis (PsA) Methods Patients who completed the 2-year, open-label, phase III CLinical Study In Pediatric Patients of Etanercept for Treatment of ERA, PsA, and Extended Oligoarthritis (CLIPPER) were allowed to enroll in its 8-year long-term extension (CLIPPER2). Children received ETN at a once-weekly dose of 0.8 mg/kg, up to a maximum dose of 50 mg/week. Efficacy assessments included the JIA core set of outcomes, the JIA American College of Rheumatology response criteria (JIA-ACR), and t…
Rationale, design, and baseline characteristics in Evaluation of LIXisenatide in Acute Coronary Syndrome, a long-term cardiovascular end point trial …
2015
BACKGROUND: Cardiovascular (CV) disease is the leading cause of morbidity and mortality in patients with type 2 diabetes mellitus (T2DM). Furthermore, patients with T2DM and acute coronary syndrome (ACS) have a particularly high risk of CV events. The glucagon-like peptide 1 receptor agonist, lixisenatide, improves glycemia, but its effects on CV events have not been thoroughly evaluated.METHODS: ELIXA (www.clinicaltrials.gov no. NCT01147250) is a randomized, double-blind, placebo-controlled, parallel-group, multicenter study of lixisenatide in patients with T2DM and a recent ACS event. The primary aim is to evaluate the effects of lixisenatide on CV morbidity and mortality in a population …
A genome-wide association study of marginal zone lymphoma shows association to the HLA region
2015
Marginal zone lymphoma (MZL) is the third most common subtype of B-cell non-Hodgkin lymphoma. Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10−15) and HLA-B (rs2922994, P=2.43 × 10−9) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
2013
International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variant…
Prognostic factors for progression-free and overall survival in advanced biliary tract cancer
2015
BACKGROUND: Biliary tract cancer is an uncommon cancer with a poor outcome. We assembled data from the National Cancer Research Institute (UK) ABC-02 study and 10 international studies to determine prognostic outcome characteristics for patients with advanced disease.METHODS: Multivariable analyses of the final dataset from the ABC-02 study were carried out. All variables were simultaneously included in a Cox proportional hazards model, and backward elimination was used to produce the final model (using a significance level of 10%), in which the selected variables were associated independently with outcome. This score was validated externally by receiver operating curve (ROC) analysis using…
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
2015
Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequen…
[Evolution and scientific impact of research grants from the spanish society of cardiology and spanish heart foundation (2000-2006)].
2011
Abstract Introduction and objectives The Sociedad Espanola de Cardiologia (Spanish Society of Cardiology) every year awards grants to finance research in the field of cardiovascular diseases. The aim of this study is to identify the impact of these investments during the period 2000-2006 from the subsequently published articles in scientific journals. Methods Using the identifying data of each project as search terms, all articles that resulted from these grants were located in the Spanish Indice Medico Espanol and Indice Bibliografico Espanol en Ciencias de la Salud databases, and in Science Citation Index-Expanded and Scopus. Descriptive statistical analysis of these articles included typ…
Library instruction – Not just for our users: Skills upgrading for librarians as a way of increasing self-confidence
2015
Published version of an article from the journal: LIBER Quarterly: Available from the publisher: http://liber.library.uu.nl/index.php/lq/article/view/10002/10598. Open Access This article examines how librarians can improve their skills through a systematic skills upgrading programme, and how this can help improve their confidence in their own expertise. Two identical questionnaires have been issued to the same group of librarians engaged in research support services. In the time period between the two surveys, a skills upgrading programme was carried out. The aim of the second survey is to examine if the librarians’ confidence has increased after the yearlong training programme. Even thoug…
Solutions to replace quantity with quality in science.
2012
In their recent letter, Joern Fischer and others [1xAcademia's obsession with quantity. Fischer, J. et al. Trends Ecol. Evol. 2012; 27: 463–474See all References[1] tackled one of the major problems in modern science: the obsession with quantity. Perspicaciously, they showed how targeting for quantity has faded out creativity and reflection from science. Fischer and others ended their letter with the words: ‘Starting with our own university departments (but not stopping there), it is time to take stock of what we are doing. We must recreate spaces for reflection, personal relationships, and depth. More does not equal better.’ Utopian as it may be, we applaud this statement.Unfortunately, Fi…