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https://www.readbyqxmd.com/read/29138598/familial-aggregation-of-myasthenia-gravis-in-affected-families-a-population-based-study
#1
Fu-Chao Liu, Chang-Fu Kuo, Lai-Chu See, Hsin-I Tsai, Huang-Ping Yu
Introduction: Myasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG. Methods: A population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/28755788/concordance-of-autoimmune-disease-in-a-nationwide-danish-systemic-lupus-erythematosus-twin-cohort
#2
Constance Jensina Ulff-Møller, Anders Jørgen Svendsen, Louise Nørgaard Viemose, Søren Jacobsen
OBJECTIVE: To determine the concordance of systemic lupus erythematosus (SLE) and co-aggregating autoimmune diseases among Danish twins. METHODS: SLE-affected twins were ascertained by record linkage between the National Patient Register (NPR) and the Danish Twin Registry (DTR). Registered SLE codes were validated through medical chart review and information from the treating physicians. Twin pairs with at least one chart-validated SLE proband were invited to participate in a personal interview and clinical validation of the SLE diagnoses...
June 23, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28741130/epigenetic-involvement-in-etiopathogenesis-and-implications-in-treatment-of-systemic-lupus-erythematous
#3
REVIEW
Arron Munggela Foma, Saeed Aslani, Jafar Karami, Ahmadreza Jamshidi, Mahdi Mahmoudi
BACKGROUND: Recent researches in the field of genetics have extended our knowledge through the discovery of genetic factors associated with autoimmune diseases (AID). Genetics by itself, however, cannot elucidate all the uncertainties encountered in the etiopathology of AID. On the other hand, incomplete harmony in the prevalence of AID in identical twins suggests that non-genetic factors may play an important role in determining the disease susceptibility. Besides, epigenetics, which is defined by changes in gene expression without a corresponding change in the DNA sequences, has come in to provide new awareness in the disease etiopathology by bridging the genetic and epigenetic factors...
December 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28702930/personalized-medicine-in-rheumatology-the-paradigm-of-serum-autoantibodies
#4
REVIEW
Silvia Sirotti, Elena Generali, Angela Ceribelli, Natasa Isailovic, Maria De Santis, Carlo Selmi
The sequencing of the human genome is now well recognized as the starting point of personalized medicine. Nonetheless, everyone is unique and can develop different phenotypes of the same disease, despite identical genotypes, as well illustrated by discordant monozygotic twins. To recognize these differences, one of the easiest and most familiar examples of biomarkers capable of identifying and predicting the outcome of patients is represented by serum autoantibodies. In this review, we will describe the concept of personalized medicine and discuss the predictive, prognostic and preventive role of antinuclear antibodies (ANA), anti-citrullinated peptide antibodies (ACPA), rare autoantibodies and anti-drug antibodies (ADA), to evaluate how these can help to identify different disease immune phenotypes and to choose the best option for treating and monitoring rheumatic patients in everyday practice...
December 2017: Auto- Immunity Highlights
https://www.readbyqxmd.com/read/28623091/dna-repair-and-systemic-lupus-erythematosus
#5
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...
August 2017: DNA Repair
https://www.readbyqxmd.com/read/28508528/competing-risks-model-in-screening-for-pre-eclampsia-in-twin-pregnancy-by-maternal-characteristics-and-medical-history
#6
C Francisco, D Wright, Z Benkő, A Syngelaki, K H Nicolaides
OBJECTIVE: A survival-time regression model for gestational age at delivery with pre-eclampsia (PE) in singleton pregnancy, using maternal demographic characteristics and medical history, was reported previously. The objective of this study was to extend this model to dichorionic (DC) and monochorionic (MC) twin pregnancy. METHODS: The study population included 1789 DC and 430 MC twin pregnancies and 93 297 singleton pregnancies. A survival-time model for gestational age at delivery with PE was developed from variables of maternal characteristics and medical history...
October 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28412046/the-epigenetic-mechanism-for-discordance-of-autoimmunity-in-monozygotic-twins
#7
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...
September 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
#8
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
#9
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
#10
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
#11
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...
May 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
#12
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
#13
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/hereditary-heterozygous-c2-deficiency-variable-clinical-and-serological-manifestations-among-three-sisters
#14
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...
2017: 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
#15
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
#16
Jae-Kyoon Hwang, Hyun-Kyung Park, Yoon-Kyoung Sung, Jeong-Kyu Hoh, 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...
January 2018: 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
#17
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
#18
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
#19
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
#20
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
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