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Rheumatic Diseases Clinics of North America

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https://www.readbyqxmd.com/read/28711150/genomics-in-rheumatic-diseases-hope-for-the-future
#1
EDITORIAL
S Louis Bridges, Carl D Langefeld
No abstract text is available yet for this article.
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711149/genomics-in-rheumatic-diseases
#2
EDITORIAL
Michael H Weisman
No abstract text is available yet for this article.
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711148/a-review-of-systemic-corticosteroid-use-in-pregnancy-and-the-risk-of-select-pregnancy-and-birth-outcomes
#3
REVIEW
Gretchen Bandoli, Kristin Palmsten, Chelsey J Forbess Smith, Christina D Chambers
The evidence to date regarding corticosteroid exposure in pregnancy and select pregnancy and birth outcomes is limited and inconsistent. The authors provide a narrative review of published literature summarizing the findings for oral clefts, preterm birth, birth weight, preeclampsia, and gestational diabetes mellitus. Whenever possible, the results are limited to oral or systemic administration with a further focus on use in autoimmune disease. Although previous studies of corticosteroid exposure in pregnancy reported an increased risk of oral clefts in the offspring, more recent studies have not replicated these findings...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711147/future-directions-of-genomics-research-in-rheumatic-diseases
#4
REVIEW
Yukinori Okada, Toshihiro Kishikawa, Saori Sakaue, Jun Hirata
Recent developments in human genome genotyping and sequencing technologies, such as genome-wide association studies and whole-genome sequencing analyses, have successfully identified several risk genes of rheumatic diseases. Fine-mapping studies using the HLA imputation method revealed that classical and non-classical HLA genes contribute to the risk of rheumatic diseases. Integration of human disease genomics with biological, medical, and clinical databases should contribute to the elucidation of disease pathogenicity and novel drug discovery...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711146/drug-repositioning-strategies-for-the-identification-of-novel-therapies-for-rheumatic-autoimmune-inflammatory-diseases
#5
REVIEW
Amrie C Grammer, Peter E Lipsky
Rheumatic Autoimmune Inflammatory Diseases such as Sjögren's and lupus lack modern treatments. Less than 5% of drugs approved by the FDA from 2014 to mid-2016 had a RAID indication. Many RAID standard-of-care drugs were repurposed based on serendipitous observations, similarity-of-disease categorization, and/or off-target effects. Recently, drug repurposing has become more intentional, relying on an evolving awareness of molecular underpinnings, as well as a better understanding of drug-target interactions by computational modeling...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711145/integrative-approaches-to-understanding-the-pathogenic-role-of-genetic-variation-in-rheumatic-diseases
#6
REVIEW
Vincent A Laufer, Jake Y Chen, Carl D Langefeld, S Louis Bridges
The use of high-throughput omics may help to understand the contribution of genetic variants to the pathogenesis of rheumatic diseases. We discuss the concept of missing heritability: that genetic variants do not explain the heritability of rheumatoid arthritis and related rheumatologic conditions. In addition to an overview of how integrative data analysis can lead to novel insights into mechanisms of rheumatic diseases, we describe statistical approaches to prioritizing genetic variants for future functional analyses...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711144/genetics-of-juvenile-idiopathic-arthritis
#7
REVIEW
Aimee O Hersh, Sampath Prahalad
Juvenile idiopathic arthritis (JIA) affects approximately 1 in 1000 US children. The cause of JIA is most likely multifactorial and due to an interplay of genetics and environmental factors. This article summarizes the known genetic risk factors for JIA that have been identified, and in some cases replicated, using a variety of methods, including genomewide association and candidate gene association studies. A brief discussion regarding pharmacogenomics and studies to data linking genetics to treatment response and outcomes is included...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711143/genomics-of-systemic-lupus-erythematosus-insights-gained-by-studying-monogenic-young-onset-systemic-lupus-erythematosus
#8
REVIEW
Linda T Hiraki, Earl D Silverman
Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711142/genetics-and-the-causes-of-ankylosing-spondylitis
#9
REVIEW
Aimee Hanson, Matthew A Brown
Ankylosing spondylitis (AS) is a common inflammatory arthritis in which genetic factors are the primary determinants of disease risk and severity. Substantial progress has been made in identifying genetic pathways involved in the disease, and in translating those discoveries to drug discovery programs. Recently discovered novel disease pathways include those involved in control of DNA methylation, bacterial sensing, and mucosal immunity. Additional pathways are likely to be identified as a higher proportion of the genetic risk of AS is determined...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711141/genomic-influences-on-hyperuricemia-and-gout
#10
REVIEW
Tony Merriman
Genome-wide association studies (GWAS) have identified nearly 30 loci associated with urate concentrations that also influence the subsequent risk of gout. The ABCG2 Q141 K variant is highly likely to be causal and results in internalization of ABCG2, which can be rescued by drugs. Three other GWAS loci contain uric acid transporter genes, which are also highly likely to be causal. However identification of causal genes at other urate loci is challenging. Finally, relatively little is known about the genetic control of progression from hyperuricemia to gout...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711140/precision-medicine-in-rheumatoid-arthritis
#11
REVIEW
James Bluett, Anne Barton
Treatment of rheumatoid arthritis (RA) has substantially improved in recent years because of the development of novel drugs. However, response is not universal for any of the treatment options, and selection of an effective therapy is currently based on a trial-and-error approach. Delayed treatment response increases the risk of progressive joint damage and resultant disability and also has a significant impact on quality of life for patients. For many drugs, the patient's genetic background influences response to therapy, and understanding the genetics of response to therapy in RA may allow for targeted personalized health care...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711139/human-leukocyte-antigen-disease-associations-in-rheumatoid-arthritis
#12
REVIEW
Vincent van Drongelen, Joseph Holoshitz
The cause and pathogenesis of rheumatoid arthritis (RA) are influenced by environmental and genetic risk factors. Shared epitope-coding human leukocyte antigen (HLA)-DRB1 alleles increase RA risk and severity; however, the underlying mechanisms of action remain unclear. In contrast, several other DRB1 alleles protect against RA. Additionally, genome-wide association studies suggest that RA associates with other, HLA and non-HLA, genes; but the relative contributions of such risk loci to RA are incompletely understood...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711138/genomic-influences-on-susceptibility-and-severity-of-rheumatoid-arthritis
#13
REVIEW
Rachel Knevel, Tom W J Huizinga, Fina Kurreeman
Genetics in rheumatoid arthritis (RA) has moved from the finding of HLA-shared epitope decades ago toward the understanding of the role of HLA in RA and the findings of ∼100 additional genetic risk variants for disease susceptibility as well as several risk variants for severe disease. These findings increased our understanding of RA abnormality. Still, the mechanisms by which many of the variants exhibit their effect are not yet understood.
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711137/genomics-biology-and%C3%A2-human-illness-advances-in-the-monogenic-autoinflammatory-diseases
#14
REVIEW
Hirotsugu Oda, Daniel L Kastner
The monogenic autoinflammatory diseases are a group of illnesses with prominent rheumatic manifestations that are characterized by genetically determined recurrent sterile inflammation and are thus inborn errors of innate immunity. Molecular targeted therapies against inflammatory cytokines, such as interleukin 1 and tumor necrosis factor, and intracellular cytokine signaling pathways have proved effective in many cases. Emerging next-generation sequencing technologies have accelerated the identification of previously unreported genes causing autoinflammatory diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711136/population-genetics-and-natural-selection-in-rheumatic-disease
#15
REVIEW
Paula S Ramos
Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Natural selection is an important influence on human genetic variation. Because immune and inflammatory function genes are enriched for signals of positive selection, the prevalence of rheumatic disease-risk alleles seen in different populations is partially the result of differing selective pressures (eg, due to pathogens). This review summarizes the genetic regions associated with susceptibility to different rheumatic diseases and concomitant evidence for natural selection, including known agents of selection exerting selective pressure in these regions...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28390572/reproductive-rheumatology-meeting-today-s-challenges
#16
EDITORIAL
Lisa R Sammaritano, Eliza F Chakravarty
No abstract text is available yet for this article.
May 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28390571/reproductive-health
#17
EDITORIAL
Michael H Weisman
No abstract text is available yet for this article.
May 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28390570/menopause-and-rheumatic-disease
#18
REVIEW
Mitali Talsania, Robert Hal Scofield
Menopause occurs naturally in women at about 50 years of age. There is a wealth of data concerning the relationship of menopause to systemic lupus erythematosus, rheumatoid arthritis, and osteoarthritis; there are limited data concerning other rheumatic diseases. Age at menopause may affect the risk and course of rheumatic diseases. Osteoporosis, an integral part of inflammatory rheumatic diseases, is made worse by menopause. Hormone replacement therapy has been studied; its effects vary depending on the disease and even different manifestations within the same disease...
May 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28390569/infertility-prevention-and-management
#19
REVIEW
Emily C Somers, Wendy Marder
Infertility and subfertility, menstrual irregularities, and decreased parity may occur in women with autoimmune diseases due to multiple factors, including underlying inflammatory disease, gonadotoxic medications, and psychosocial issues related to living with chronic disease. Awareness of these factors, as well as validation and support of patients confronting reproductive challenges, is important for providing comprehensive care to these women. An understanding of the expanding options for fertility preservation strategies during gonadotoxic medications is essential...
May 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28390568/outcomes-in-children-born-to-women-with-rheumatic-diseases
#20
REVIEW
Évelyne Vinet, Sasha Bernatsky
Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are the most prevalent autoimmune rheumatic diseases, predominantly occurring in women during childbearing years. Research has focused on assessing the risk of immediate complications during SLE and RA pregnancies, with studies documenting a higher risk of adverse obstetric outcomes, such as preterm births and infants small for gestational age. Until recently, little was known regarding the long-term health of children born to affected women. We present a review of the current evidence regarding the risk of adverse health outcomes in SLE and RA offspring, and potential mechanisms involved in their pathogenesis...
May 2017: Rheumatic Diseases Clinics of North America
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