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Arthritis Care &Research, EarlyView.Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah +6 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objective We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods We conducted a population‐based study of ED gout visits in Ontario, Canada between 2014 and 2023.
Timothy S.H. Kwok +7 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objective The objective of this article is to identify perceptions of SLE patients regarding artificial intelligence (AI)‐based online symptom assessment tools, and the potential of these tools to address diagnostic barriers. Methods Adults from our SLE research cohort were invited to participate in 60‐90 minute virtual focus groups concerning their ...
Olivia A. Stein +7 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objectives While the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semi‐structured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart +5 more
wiley +1 more source
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Copy Number Variants and Pharmacogenomics
Pharmacogenomics, 2005The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we
Karim, Ouahchi +2 more
openaire +2 more sources
Somatic copy number variants in neuropsychiatric disorders
Current Opinion in Genetics & Development, 2021Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur post-zygotically, and are therefore present in some but not all cells of the body.
Eduardo A Maury, Christopher A Walsh
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An evolving view of copy number variants
Current Genetics, 2019Copy number variants (CNVs) are regions of the genome that vary in integer copy number. CNVs, which comprise both amplifications and deletions of DNA sequence, have been identified across all domains of life, from bacteria and archaea to plants and animals.
Stephanie Lauer, David Gresham
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Copy number variants and fetal growth in stillbirths
American Journal of Obstetrics and Gynecology, 2023Fetal growth abnormalities are associated with a higher incidence of stillbirth, with small and large for gestational age infants incurring a 3 to 4- and 2 to 3-fold increased risk, respectively. Although clinical risk factors such as diabetes, hypertension, and placental insufficiency have been associated with fetal growth aberrations and stillbirth ...
Susan E. Dalton +9 more
openaire +2 more sources