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Ji Wei Yang, Eric Rich, Claire Saint-Cyr, Josiane Bourré-Tessier
The causal link between inherited complement deficiencies and systemic lupus erythematosus (SLE) has been well established, although it remains a rare cause of the disease. We present the case of three biological sisters with hereditary heterozygous C2 deficiency, but who differ widely in their clinical and serological manifestations. Patient 1 is 25 years old and was diagnosed with SLE at the age of 12. Further testing revealed positive ANA and anti-dsDNA, antiphospholipid syndrome (APS) and decreased C2, C3 and C4 levels...
August 7, 2016: Current Rheumatology Reviews
Janett Carmen Luzmila Riega-Torres, Antonio Jaime Villarreal-Gonzalez, Luis Ángel Ceceñas-Falcon, Julio Cesar Salas-Alanis
Sjögren's syndrome is a chronic autoimmune disease whose main clinical manifestation is oral dryness (xerostomia) and ocular dryness (xerophthalmia). It is characterized by progressive mononuclear infiltration of the exocrine glands and can affect a variety of organ systems. The prevalence of primary Sjögren's syndrome varies from 0.01 up to 4.8%; this variability reflects differences in definition, application of diagnostic criteria, and geographic differences in age groups. The etiology of primary Sjögren's syndrome is unknown, but the interaction between genetic and environmental factors (viruses, hormones, vitamins, stress) is important...
May 2016: Gaceta Médica de México
Jae-Kyoon Hwang, Hyun-Kyung Park, Yoon-Kyoung Sung, Jeong-Gyu Ho, Hyun Ju Lee
OBJECTIVE: There is little follow-up data in preterm infants from mothers with systemic lupus erythematosus (SLE). The aim of this study was to determine maternal outcomes and compare neonatal outcomes in preterm and term infants born to mothers with SLE. METHODS: This study is a prospective study in a tertiary medical care center and clinical research center for rheumatoid arthritis. Demographic data, clinical features, laboratory findings, treatment and complications in 77 pregnant SLE patients were prospectively evaluated from 2007 to 2013...
June 22, 2016: Journal of Maternal-fetal & Neonatal Medicine
Haijing Wu, Ming Zhao, Akihiko Yoshimura, Christopher Chang, Qianjin Lu
Autoimmune diseases occur when the immune system loses tolerance to self-antigens, inducing inflammation and tissue damage. The pathogenesis of autoimmune diseases has not been elucidated. A growing mountain of evidence suggests the involvement of genetic and epigenetic factors in the development of these disorders. Genetic mapping has identified several candidate variants in autoimmune conditions. However, autoimmune diseases cannot be explained by genetic susceptibility alone. The fact that there is only 20 % of concordance for systemic lupus erythematosus (SLE) in homozygotic twins is an indication that epigenetics and environment may also play significant roles...
June 2016: Clinical Reviews in Allergy & Immunology
Joanna Rositano, Peter Harpas, Chris Kostakis, Timothy Scott
Since 2006, the South Australian Government has been conducting roadside oral fluid testing of drivers for the illicit drugs methylamphetamine (MA), methylenedioxymethylamphetamine (MDMA) and Δ(9)-tetrahydrocannabinol (THC) using the Securetec Drugwipe II Twin and Alere DDS 805 AP saliva collection kit. Forensic Science South Australia carries out the confirmatory analysis by LC/MS for the positive test results of oral fluid roadside testing along with the pre-screened ELISA positive road traffic accident blood samples...
August 2016: Forensic Science International
Wenfen Zhu, Yixiao Fu, Xiaomei Hu, Yingcheng Wang, Wei Deng, Tao Li, Xingshun Ma
OBJECTIVE: To explore the influence of genetic and environmental factors on adolescents violence behaviors. METHODS: The violence behaviors of 111 twin pairs from Chongqing (aged from 11 to 18 years) were investigated with risk behavior questionnaire-adolescent (RBQ-A). The Parenting Styles and Dimensions Questionnaire (PSDQ) and Stressful Life Event (SLE) and the General Functioning Scale of the MacMaster Family Activity Device (FAD-GFS) were applied to assess their environment factors...
November 2015: Wei Sheng Yan Jiu, Journal of Hygiene Research
Anil Mankee, Michelle Petri, Laurence S Magder
INTRODUCTION: Multiple factors, including proteinuria, antiphospholipid syndrome, thrombocytopenia and hypertension, are predictive of pregnancy loss in systemic lupus erythematosus (SLE). In the PROMISSE study of predictors of pregnancy loss, only a battery of lupus anticoagulant tests was predictive of a composite of adverse pregnancy outcomes. We examined the predictive value of one baseline lupus anticoagulant test (dilute Russell viper venom time) with pregnancy loss in women with SLE...
2015: Lupus Science & Medicine
Pier Luigi Meroni, Alessandra Emiliana Penatti
Systemic lupus erythematosus (SLE) is a chronic relapsing-remitting autoimmune disease affecting several organs. Although the management of lupus patients has improved in the last years, several aspects still remain challenging. More sensitive and specific biomarkers for an early diagnosis as well as for monitoring disease activity and tissue damage are needed. Genome-wide association and gene mapping studies have supported the genetic background for SLE susceptibility. However, the relatively modest risk association and the studies in twins have suggested a role for environmental and epigenetic factors, as well as genetic-epigenetic interaction...
June 2016: Clinical Reviews in Allergy & Immunology
Chang-Fu Kuo, Matthew J Grainge, Ana M Valdes, Lai-Chu See, Shue-Fen Luo, Kuang-Hui Yu, Weiya Zhang, Michael Doherty
IMPORTANCE: Relatives of patients with systemic lupus erythematosus (SLE) appear to be at higher risk of SLE and other autoimmune diseases, but estimates of individual familial risks are largely unavailable or unreliable. Furthermore, relative contributions of genetic, shared, and unshared environmental factors to SLE susceptibility remain unclear. OBJECTIVE: To examine familial aggregation and heritability of SLE and the relative risks (RRs) of other autoimmune diseases in relatives of patients with SLE...
September 2015: JAMA Internal Medicine
T Haddad, D Hakem, A Berrah
INTRODUCTION: The pregnancies in systemic erythematous lupus (SLE) disease is a situation of high risk and involve both the mother and the fetus. The prematurity and the miscarriage are there more frequent, with increase risks of eclampsia, acute hypertension, HELP syndrome and of worsening renal disease. So the morbimortality is multiplied particularly when a anti-phospholipid syndrome 'APLS' is associated. The pregnancy remains however authorized when the SLE is in remission for more than 6 months with a validated treatment and successful means of monitoring...
July 2012: Pregnancy Hypertension
Saloua Mrabet, Hanene Benrhouma, Ichraf Kraoua, Amira Naas, Nedia Ben Achour, Hedia Klaa, Ilhem Turki
UNLABELLED: Systemic lupus erythematosus (SLE) is an immunologic disease of the early adulthood. In children, SLE is rare and neurological onset is uncommon. We report on an observation of pediatric lupus in heterozygous twins revealed by mixed movement disorders. CASE REPORT: An 8-year-old boy, born to non consanguineous parents, with a family history of depression and a personal history of macular eruption, inflammatory polyarthralgias and a recurrent angina presented with acute movement and mood disorders...
October 2015: Brain & Development
Antonietta Picascia, Vincenzo Grimaldi, Orlando Pignalosa, Maria Rosaria De Pascale, Concetta Schiano, Claudio Napoli
Genome-wide association studies have revealed several genes predisposing to autoimmunity, however, concordance rates in monozygotic twins are significantly below 50% for several autoimmune diseases. The limited presence of a strong genetic association only in some patients supports that other non-genetic mechanisms are active in these pathologies. Epigenetic modifications such as DNA methylation, histone modification, and microRNA signaling regulate gene expression and are sensitive to external stimuli and they might be as bridging between genetic and environmental factors...
March 2015: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Emma Norrman, Christina Bergh, Ulla-Britt Wennerholm
STUDY QUESTION: What is the child morbidity after IVF in women who have received a kidney transplant? SUMMARY ANSWER: Overall, obstetric outcome and morbidity in children of women who had undergone renal transplantation and IVF treatment were favourable. WHAT IS KNOWN ALREADY: There are several studies of the obstetric outcome in women with spontaneous conception after solid organ transplantation as well as studies of obstetric outcome after IVF in general...
January 2015: Human Reproduction
Y Renaudineau, D Beauvillard, M Padelli, W H Brooks, P Youinou
Recent advances in epigenetics have enhanced our knowledge of how environmental factors (UV radiation, drugs, infections, etc.) contribute to the development of autoimmune diseases (AID) in genetically predisposed individuals. Studies conducted in monozygotic twins discordant for AID and spontaneous autoimmune animal models have highlighted the importance of DNA methylation changes and histone modifications. Alterations in the epigenetic pattern seem to be cell specific, as CD4+ T cells and B cells are dysregulated in systemic lupus erythematosus, synovial fibroblasts in rheumatoid arthritis and cerebral cells in multiple sclerosis...
October 2011: Journal of Developmental Origins of Health and Disease
Julia I Ellyard, Rebekka Jerjen, Jaime L Martin, Adrian Y S Lee, Matthew A Field, Simon H Jiang, Jean Cappello, Svenja K Naumann, T Daniel Andrews, Hamish S Scott, Marco G Casarotto, Christopher C Goodnow, Jeffrey Chaitow, Virginia Pascual, Paul Hertzog, Stephen I Alexander, Matthew C Cook, Carola G Vinuesa
Objective. Systemic lupus erythematosus (SLE) isa chronic and heterogeneous autoimmune disease. Both twin and sibling studies indicate a strong genetic contribution to lupus, but in the majority of cases the pathogenic variant remains to be identified. The genetic contribution to disease is likely to be greatest in cases with early onset and severe phenotypes. Whole-exome sequencing now offers the possibility of identifying rare alleles responsible for disease in such cases. This study was undertaken to identify genetic causes of SLE using whole-exome sequencing...
December 2014: Arthritis & Rheumatology
De Azevêdo Silva J, Addobbati C, Sandrin-Garcia P, Crovella S
Systemic Lupus Erythematosus (SLE) is one of the most relevant world-wide autoimmune disorders. The formation of autoantibodies and the deposition of antibody-containing immune complexes in blood vessels throughout the body is the main pathogenic mechanism of SLE leading to heterogeneous clinical manifestations and target tissue damage. The complexity of etiology and pathogenesis in SLE, enclosing genetic and environmental factors, apparently is one of the greatest challenges for both researchers and clinicians...
February 2014: Current Genomics
C-G Miao, J-T Yang, Y-Y Yang, C-L Du, C Huang, Y Huang, L Zhang, X-W Lv, Y Jin, J Li
Systemic lupus erythematosus (SLE) is a systemic multi-organ autoimmune disease with different immunological characteristics and clinical manifestations characterized by an autoantibody response to nuclear and cytoplasmic antigens; the etiology of this disease remains largely unknown. Most recent genome-wide association studies demonstrate that genetics significantly predispose to SLE onset, but the incomplete disease concordance rates between monozygotic twins indicates a role for other complementary factors in SLE pathogenesis...
July 2014: Lupus
Lu Gan, Terrance P O'Hanlon, Aaron S Gordon, Lisa G Rider, Frederick W Miller, Peter D Burbelo
BACKGROUND: Studies of twin pairs discordant for autoimmune conditions provide a unique opportunity to explore contributing factors triggered by complex gene-environment interactions. METHODS: In this cross-sectional study, thirty-one monozygotic or dizygotic twin pairs discordant for myositis or systemic lupus erythematosus (SLE), along with matched healthy controls were evaluated for antibodies against a panel of 21 autoantigens. RESULTS: Autoantibody profiling revealed that 42% of the affected twins showed significant seropositivity against autoantigens in the panel...
2014: BMC Musculoskeletal Disorders
Xiaoxia Liu, Yu Wu, Yuan Yang, Jue Wang, Ye Tao, Ping Fu, Zhangxue Hu
BACKGROUND: Anti-glomerular basement membrane (GBM) glomerulonephritis and systemic lupus erythematosus (SLE) are both disorders of the immune system; however, they are known as distinct diseases. Till now no clinical evidence suggests the genetic relationship between these two diseases. Herein, we present two identical twins; one was diagnosed as anti-GBM glomerulonephritis, the other SLE. This is the first clinical report on the genetic relationship between these two diseases. CASE PRESENTATION: A 25-year-old female was admitted complaining of intermittent gross hematuria for 6 months and elevated serum creatinine for 1 month...
2013: BMC Nephrology
Joseph J Noh, Cheol-Ho Park, Mi-Hyun Jo, Ja-Young Kwon
BACKGROUND: Unscarred uterine rupture in association with systemic lupus erythematosus (SLE) and long-term steroid treatment is rare. CASE: A 36-year-old primigravid woman conceived a twin gestation after in vitro fertilization therapy. At 23 weeks of gestation, she was found to have a spontaneous rupture of the uterus. Her medical history was significant for SLE for a duration of 19 years, and her condition had been maintained with prednisolone. She had no history of uterine scarring or other known risk factors for uterine rupture...
August 2013: Obstetrics and Gynecology
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