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https://www.readbyqxmd.com/read/28623091/dna-repair-and-systemic-lupus-erythematosus
#1
REVIEW
Rithy Meas, Matthew J Burak, Joann B Sweasy
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with no known cure that affects at least five million people worldwide. Monozygotic twin concordance and familial aggregation studies strongly suggest that lupus results from genetic predisposition along with environmental exposures including UV light. The majority of the common risk alleles associated with genetic predisposition to SLE map to genes associated with the immune system. However, evidence is emerging that implicates a role for aberrant DNA repair in the development of lupus...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28508528/competing-risks-model-in-screening-for-preeclampsia-in-twin-pregnancies-by-maternal-characteristics-and-medical-history
#2
Carla Francisco, David Wright, Zsófia Benkő, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: A survival-time regression model for the gestational age at delivery with preeclampsia (PE) in singleton pregnancies using maternal demographic characteristics and medical history was previously reported. The objective of this paper is to extend this model for dichorionic (DC) and monochorionic (MC) twin pregnancies. METHODS: The study population included 1,789 DC and 430 MC twin pregnancies and 93,297 singleton pregnancies. A survival-time model for the gestational age at delivery with PE was developed from variables of maternal characteristics and history...
May 15, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28412046/the-epigenetic-mechanism-for-discordance-of-autoimmunity-in-monozygotic-twins
#3
REVIEW
Zhongyuan Xiang, Yuanqing Yang, Christopher Chang, Qianjin Lu
Monozygotic twins share an identical DNA sequence but are not truly "identical". In fact, when it comes to health and disease, they may often display some level of phenotypic discordance. The cause of this discordance is often unknown. Epigenetic modifications such as DNA methylation, histone modification, and microRNAs-mediated regulation regulate gene expression and are sensitive to external stimuli. These modifications may be seen to bridge the gap between genetics and the environment. Over the years, the importance of epigenetics as a primary mechanism for the role that the environment plays in defining phenotype has been increasingly appreciated...
April 12, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28339674/family-history-of-systemic-lupus-erythematosus-and-risk-of-autoimmune-disease-nationwide-cohort-study-in-denmark-1977-2013
#4
Constance Jensina Ulff-Møller, Jacob Simonsen, Kirsten Ohm Kyvik, Søren Jacobsen, Morten Frisch
Objective.: To provide population-based estimates of relative risk of SLE and other autoimmune diseases (ADs) in relatives of SLE patients. Methods.: A cohort of 5 237 319 Danish residents identified through the Civil Registration System was coupled to their relatives through the parental link and followed for SLE and other ADs between 1977 and 2013 through linkage to the National Patient Register. Twin zygosity was established through the Danish Twin Registry. Hazard ratios (HRs) with 95% CIs were calculated using Cox proportional hazards regression analyses...
June 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythematosus
#5
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
March 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28135065/direct-electrical-probing-of-periodic-modulation-of-zinc-dopant-distributions-in-planar-gallium-arsenide-nanowires
#6
Wonsik Choi, Eric Seabron, Parsian K Mohseni, Jeong Dong Kim, Tobias Gokus, Adrian Cernescu, Pascal Pochet, Harley T Johnson, William L Wilson, Xiuling Li
Selective lateral epitaxial (SLE) semiconductor nanowires (NWs), with their perfect in-plane epitaxial alignment, ability to form lateral complex p-n junctions in situ, and compatibility with planar processing, are a distinctive platform for next-generation device development. However, the incorporation and distribution of impurity dopants in these planar NWs via the vapor-liquid-solid growth mechanism remain relatively unexplored. Here, we present a detailed study of SLE planar GaAs NWs containing multiple alternating axial segments doped with Si and Zn impurities by metalorganic chemical vapor deposition...
February 28, 2017: ACS Nano
https://www.readbyqxmd.com/read/28089975/in-vitro-fertilization-in-37-women-with-systemic-lupus-erythematosus-or-antiphospholipid-syndrome-a-series-of-97-procedures
#7
Pauline Orquevaux, Agathe Masseau, Véronique Le Guern, Vanessa Gayet, Danièle Vauthier, Gaelle Guettrot-Imbert, Du Le Thi Huong, Bertrand Wechsler, Nathalie Morel, Patrice Cacoub, Jean-Loup Pennaforte, Jean-Charles Piette, Nathalie Costedoat-Chalumeau
OBJECTIVE: To compile and assess data about complication and success rates for in vitro fertilization (IVF) of women with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). To date, such data are sparse. METHODS: This retrospective study described women with SLE and/or APS who have had at least 1 IVF cycle. RESULTS: Thirty-seven women with SLE (n = 23, including 8 with antiphospholipid antibodies), SLE with APS (n = 4), or primary APS (n = 10) underwent 97 IVF procedures...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/27940592/cd3z-hypermethylation-is-associated-with-severe-clinical-manifestations-in-systemic-lupus-erythematosus-and-reduces-cd3%C3%AE-chain-expression-in-t-cells
#8
Kyeong-Man Hong, Hyun-Kyoung Kim, Seong-Yeol Park, Shiv Poojan, Mi-Kyung Kim, Joohon Sung, Betty P Tsao, Jennifer M Grossman, Ornella J Rullo, Jennifer M P Woo, Deborah K McCurdy, Lisa G Rider, Frederick W Miller, Yeong-Wook Song
Objective.: The importance of hypomethylation in SLE is well recognized; however, the significance of hypermethylation has not been well characterized. We screened hypermethylated marks in SLE and investigated their possible implications. Methods.: DNA methylation marks were screened in SLE whole-blood DNA by microarray, and two marks ( CD3Z and VHL hypermethylations) were confirmed by a methylation single-base extension method in two independent ethnic cohorts consisting of 207 SLE patients and 151 controls...
March 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/27799851/low-molecular-weight-heparin-can-benefit-women-with-recurrent-pregnancy-loss-and-sole-protein-s-deficiency-a-historical-control-cohort-study-from-taiwan
#9
Ming-Ching Shen, Wan-Ju Wu, Po-Jen Cheng, Gwo-Chin Ma, Wen-Chu Li, Jui-Der Liou, Cheng-Shyong Chang, Wen-Hsiang Lin, Ming Chen
BACKGROUND: Heritable thrombophilias are assumed important etiologies for recurrent pregnancy loss. Unlike in the Caucasian populations, protein S and protein C deficiencies, instead of Factor V Lieden and Prothrombin mutations, are relatively common in the Han Chinese population. In this study we aimed to investigate the therapeutic effect of low molecular weight heparin upon women with recurrent pregnancy loss and documented protein S deficiency. METHODS: During 2011-2016, 68 women with recurrent pregnancy loss (RPL) and protein S deficiency (both the free antigen and function of protein S were reduced) were initially enrolled...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27502238/combined-hereditary-heterozygous-c2-and-c4-deficiencies-variable-clinical-and-serological-manifestations-among-three-sisters
#10
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
https://www.readbyqxmd.com/read/27335194/-sj%C3%A3-gren-s-syndrome-ss-a-review-of-the-subject-and-saliva-as-a-diagnostic-method
#11
REVIEW
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
https://www.readbyqxmd.com/read/27334257/maternal-outcomes-and-follow-up-of-preterm-and-term-neonates-born-to-mothers-with-systemic-lupus-erythematosus
#12
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
https://www.readbyqxmd.com/read/26969025/critical-link-between-epigenetics-and-transcription-factors-in-the-induction-of-autoimmunity-a-comprehensive-review
#13
REVIEW
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
https://www.readbyqxmd.com/read/26878366/supported-liquid-extraction-sle-for-the-analysis-of-methylamphetamine-methylenedioxymethylamphetamine-and-delta-9-tetrahydrocannabinol-in-oral-fluid-and-blood-of-drivers
#14
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
https://www.readbyqxmd.com/read/26738378/-a-twin-study-on-genetic-and-environmental-factors-of-adolescents-violence-behaviors
#15
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
https://www.readbyqxmd.com/read/26688740/lupus-anticoagulant-disease-activity-and-low-complement-in-the-first-trimester-are-predictive-of-pregnancy-loss
#16
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
https://www.readbyqxmd.com/read/26206675/epigenetics-and-systemic-lupus-erythematosus-unmet-needs
#17
REVIEW
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
https://www.readbyqxmd.com/read/26193127/familial-aggregation-of-systemic-lupus-erythematosus-and-coaggregation-of-autoimmune-diseases-in-affected-families
#18
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
https://www.readbyqxmd.com/read/26105465/pp144-profile-of-lupus-pregnancy-in-internal-medecine-practice
#19
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
https://www.readbyqxmd.com/read/25736974/mixed-movements-disorders-as-an-initial-feature-of-pediatric-lupus
#20
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
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