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Genetic lupus

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https://www.readbyqxmd.com/read/28933339/incidence-and-outcome-of-lupus-nephritis-in-french-polynesia%C3%A2
#1
Antoine Delarche, Catherine Lumbroso, Alain Fournier, Ronan Delaval, Jacques Pourrat, Pascale Testevuide, Sylvie Leou, Christophe Cordonnier, Dominique Chauveau, Stanislas Faguer
OBJECTIVE: Outcomes of systemic lupus erythematosus (SLE) and lupus nephritis (LN) are highly heterogeneous among some populations because of interactions between genetic, epigenetic, environmental, and socioeconomic factors. A better characterization of social and ethnic disparities in mixed populations may thus help to develop individualized treatment regimens. MATERIALS AND METHODS: Retrospective observational study including all patients with LN diagnosed between January 1993 and January 2014 in the only Nephrology Department of French Polynesia...
September 21, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28932614/acute-low-dose-hydralazine-induced-lupus-pneumonitis
#2
Sarah K Holman, Donique Parris, Sarah Meyers, Jason Ramirez
A 35-year-old female was started on hydralazine 10 mg orally three times a day for treatment of postpartum hypertension. Three months later, after multiple unsuccessful courses of prednisone and antibiotics for presumed pneumonia and asthma exacerbations, her respiratory symptoms progressed in severity and she developed resting hypoxia. Previous diagnostic work-up included spirometry with a restrictive pattern, chest CT showing bilateral basilar consolidation, negative BAL, and nonspecific findings on lung biopsy of mild inflammatory cells...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28924718/comprehensive-annotation-and-evolutionary-insights-into-the-canine-canis-lupus-familiaris-antigen-receptor-loci
#3
Jolyon Martin, Hannes Ponstingl, Marie-Paule Lefranc, Joy Archer, David Sargan, Allan Bradley
Dogs are an excellent model for human disease. For example, the treatment of canine lymphoma has been predictive of the human response to that treatment. However, an incomplete picture of canine (Canis lupus familiaris) immunoglobulin (IG) and T cell receptor (TR)-or antigen receptor (AR)-gene loci has restricted their utility. This work advances the annotation of the canine AR loci and looks into breed-specific features of the loci. Bioinformatic analysis of unbiased RNA sequence data was used to complete the annotation of the canine AR genes...
September 19, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28924537/inherited-thrombophilias-could-influence-the-reproductive-outcome-in-women-with-systemic-lupus-erythematosus
#4
R Robeva, D Tanev, S Andonova, M Nikolova, A Tomova, Ph Kumanov, A Savov, R Rashkov, Zl Kolarov
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#5
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yılmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917219/reuma-pt-contribution-to-the-knowledge-of-immune-mediated-systemic-rheumatic-diseases
#6
Maria José Santos, Helena Canhão, Ana Filipa Mourão, Filipa Oliveira Ramos, Cristina Ponte, Cátia Duarte, Anabela Barcelos, Fernando Martins, José António Melo Gomes
Patient registries are key instruments aimed at a better understanding of the natural history of diseases, at assessing the effectiveness of therapeutic interventions, as well as identifying rare events or outcomes that are not captured in clinical trials. However, the potential of registries goes far beyond these aspects. For example, registries promote the standardization of clinical practice, can also provide information on domains that are not routinely collected in clinical practice and can support decision-making...
September 14, 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28914372/the-role-of-gut-microbiota-in-the-pathogenesis-of-rheumatic-diseases
#7
Danli Zhong, Chanyuan Wu, Xiaofeng Zeng, Qian Wang
Rheumatic diseases refer to many diseases with a loss of immune self-tolerance, leading to a chronic inflammation, degeneration, or metabolic derangement in multiple organs or tissues. The cause of rheumatic diseases remains to be elucidated, though both environmental and genetic factors are required for the development of rheumatic diseases. Over the past decades, emerging studies suggested that alteration of intestinal microbiota, known as gut dysbiosis, contributed to the occurrence or development of a range of rheumatic diseases, including rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, systemic sclerosis, and Sjogren's syndrome, through profoundly affecting the balance between pro- and anti-inflammatory immune responses...
September 15, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28914367/no-association-of-single-nucleotide-polymorphisms-within-h19-and-hox-transcript-antisense-rna-hotair-with-genetic-susceptibility-to-systemic-lupus-erythematosus-rheumatoid-arthritis-and-primary-sj%C3%A3-gren-s-syndrome-in-a-chinese-han-population
#8
An-Fang Huang, Lin-Chong Su, Hong Jia, Yi Liu, Wang-Dong Xu
The H19 (rs2839698, rs3741219) and HOTAIR (rs920778) polymorphisms were related to many kinds of cancers. However, these polymorphisms have been scarcely explored in different autoimmune diseases. Here, we aimed to examine the association of the polymorphisms with susceptibility to or protection against systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and primary Sjögren's syndrome (pSS) among Chinese Han patients. We conducted a case-control study including 800 patients (300 with SLE, 350 with RA, and 150 with pSS) and 350 healthy control individuals...
September 15, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28914273/patterns-and-appropriateness-of-thrombophilia-testing-in-an-academic-medical-center
#9
Nicholas Cox, Stacy A Johnson, Sara Vazquez, Ryan P Fleming, Matthew T Rondina, David Kaplan, Stephanie Chauv, Gabriel V Fontaine, Scott M Stevens, Scott Woller, Daniel M Witt
BACKGROUND: Clinical guidelines recommend against routine use of thrombophilia testing in patients with acute thromboembolism. Thrombophilia testing rarely changes acute management of a thrombotic event. OBJECTIVE: To determine appropriateness of thrombophilia testing in a teaching hospital. DESIGN: Retrospective cohort study. SETTING: One academic medical center in Utah. PARTICIPANTS: All patients who received thrombophilia testing between July 1, 2014, and December 31, 2014...
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28905254/use-of-eculizumab-in-a-systemic-lupus-erythemathosus-patient-presenting-thrombotic-microangiopathy-and-heterozygous-deletion-in-cfhr1-cfhr3-a-case-report-and-systematic-review
#10
REVIEW
Maria Izabel de Holanda, Luis Cristóvão Pôrto, Teresa Wagner, Luis Fernando Christiani, Lilian M P Palma
The association of thrombotic microangiopathy (TMA) with systemic lupus erythematosus (SLE) has been described in 0.5 to 10% of cases, and patients present worse outcome. TMA is described as the association of microangiopathic hemolytic anemia, thrombocytopenia, and an organ injury, frequently the kidney. This study describes a successful case of use of eculizumab in a patient with SLE and TMA refractory to standard therapy, and provides a literature review. Case description and search in PubMed and MEDLINE using systemic lupus erythemathous and/or antiphospholipid syndrome (APS) and eculizumab retrieved 15 case reports...
September 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28901270/reappraisal-of-antimalarials-in-interferonopathies-new-perspectives-for-old-drugs
#11
Elisa Piscianz, Eva Cuzzoni, Rajan Sharma, Alessandra Tesser, Pooja Sapra, Alberto Tommasini
The story of antimalarials as antinflammatory drugs dates back several centuries. Chinin, the extract of the Cinchona bark, has been exploited since the 18th century for its antimalarial and antifebrile properties. Later, during the Second World War, the broad use of antimalarials allowed arguing their antirheumatic effect on soldiers. Since then, these drugs have been broadly used to treat Systemic Lupus Erythematosus, but, only recently, have the molecular mechanisms of action been partly clarified. Inhibitory action on vacuole function and trafficking has been considered for decades the main mechanism of the action of antimalarials, affecting the activation of phagocytes and dendritic cells...
September 11, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28900675/bone-disease-in-connective-tissue%C3%A2-disease-systemic-lupus-erythematosus
#12
REVIEW
Irene E M Bultink
This article reviews recent advances in the research of the mechanisms of bone loss, as well as clinical features, economic impact and therapeutic implications of osteoporosis and fractures in patients with systemic lupus erythematosus (SLE) as an illustration of bone disease in a complex systemic autoimmune connective tissue disease. Recent studies demonstrated an increased incidence of osteoporosis and peripheral and vertebral fractures in patients with SLE. The aetiology of bone loss in SLE is multifactorial, including clinical osteoporosis risk factors, systemic inflammation, serological factors, metabolic factors, hormonal factors, possibly genetic factors and medication-induced adverse effects...
September 12, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28895130/ancestry-informative-marker-panel-to-estimate-population-stratification-using-genome-wide-human-array
#13
Fernanda B Barbosa, Natalia F Cagnin, Milena Simioni, Allysson A Farias, Fábio R Torres, Miriam C Molck, Tânia K Araujo, Vera L Gil-Da-Silva-Lopes, Eduardo A Donadi, Aguinaldo L Simões
Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case-control study performed using a genome-wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations...
September 11, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28882929/rhob-blockade-selectively-inhibits-autoantibody-production-in-autoimmune-models-of-rheumatoid-arthritis-and-lupus
#14
Laura Mandik-Nayak, James B DuHadaway, Jennifer Mulgrew, Elizabeth Pigott, Kaylend Manley, Summer Sedano, George C Prendergast, Lisa D Laury-Kleintop
During the development of autoimmune disease, a switch occurs in the antibody repertoire of B cells favoring the production of pathogenic versus non-pathogenic autoantibodies. However, there is limited knowledge concerning how this pivotal step occurs. Here we present genetic and pharmacological evidence of a positive modifier function for the vesicular small GTPase RhoB in specifically mediating the generation of pathogenic autoantibodies and disease progression in the K/BxN preclinical model of inflammatory arthritis...
September 7, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28879482/pristane-induced-lupus-considerations-on-this-experimental-model
#15
Eduarda Correa Freitas, Mayara Souza de Oliveira, Odirlei André Monticielo
Systemic lupus erythematosus (SLE) is a multifactorial, autoimmune inflammatory disease with pleomorphic clinical manifestations involving different organs and tissues. The etiology of this disease has been associated with a dysfunctional response of B and T lymphocytes against environmental stimuli in individuals genetically susceptible to SLE, which determines an immune response against different autoantigens and, consequently, tissue damage. The study of different murine models has provided a better understanding of these autoimmune phenomena...
September 6, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28863792/genetics-of-immune-mediated-glomerular-diseases-focus-on-complement
#16
REVIEW
Marina Noris, Giuseppe Remuzzi
The spectrum of immune-mediated glomerular diseases is wide, ranging from rare diseases with well-recognized genetic origins to more common and multifactorial diseases. Immune-mediated glomerular injury is complex and involves both the innate and the adaptive immune systems. In the past 20 years a huge effort has been undertaken to unravel the genetic basis of immune-mediated glomerular diseases. The discovery of abnormalities in genes encoding proteins of the alternative pathway of complement in more than 50% of patients with atypical hemolytic uremic syndrome (aHUS), and in approximately 20% of patients with membranoproliferative glomerulonephritis (MPGN), has highlighted the role of this complement pathway in the pathogenesis of immune-mediated glomerular diseases...
September 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28827978/defining-biological-subsets-in-systemic-lupus-erythematosus-progress-toward-personalized-therapy
#17
Nailú Angélica Sinicato, Mariana Postal, Simone Appenzeller, Timothy B Niewold
Systemic lupus erythematosus (SLE) is a heterogeneous disease with respect to disease severity, response to treatment, and organ damage. The pathogenesis of SLE includes immunological mechanisms which are driven by both genetic and environmental factors. There are clear differences in the pathogenesis of SLE between patients of different ancestral backgrounds, including differences in genetic risk factors, immunological parameters, and clinical manifestations. Patients with high vs. low levels of type I interferon (IFN) in circulation represents one major biological subset within SLE, and these two groups of patients are present in all ancestral backgrounds...
April 2017: Pharmaceutical Medicine
https://www.readbyqxmd.com/read/28818832/b-cell-ox40l-supports-t-follicular-helper-cell-development-and-contributes-to-sle-pathogenesis
#18
Andrea Cortini, Ursula Ellinghaus, Talat H Malik, Deborah S Cunninghame Graham, Marina Botto, Timothy James Vyse
OBJECTIVES: TNFSF4 (encodes OX40L) is a susceptibility locus for systemic lupus erythematosus (SLE). Risk alleles increase TNFSF4 expression in cell lines, but the mechanism linking this effect to disease is unclear, and the OX40L-expressing cell types mediating the risk are not clearly established. Blockade of OX40L has been demonstrated to reduce disease severity in several models of autoimmunity, but not in SLE. We sought to investigate its potential therapeutic role in lupus. METHODS: We used a conditional knockout mouse system to investigate the function of OX40L on B and T lymphocytes in systemic autoimmunity...
August 17, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28801578/basophils-contribute-to-pristane-induced-lupus-like-nephritis-model
#19
Barbara Dema, Yasmine Lamri, Christophe Pellefigues, Emeline Pacreau, Fanny Saidoune, Caroline Bidault, Hajime Karasuyama, Karim Sacré, Eric Daugas, Nicolas Charles
Lupus nephritis (LN), one of the most severe outcomes of systemic lupus erythematosus (SLE), is initiated by glomerular deposition of immune-complexes leading to an inflammatory response and kidney failure. Autoantibodies to nuclear antigens and autoreactive B and T cells are central in SLE pathogenesis. Immune mechanisms amplifying this autoantibody production drive flares of the disease. We previously showed that basophils were contributing to LN development in a spontaneous lupus-like mouse model (constitutive Lyn (-/-) mice) and in SLE subjects through their activation and migration to secondary lymphoid organs (SLOs) where they amplify autoantibody production...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28799838/vitamin-d-receptor-gene-foki-polymorphism-in-egyptian-children-and-adolescents-with-sle-a-case-control-study
#20
A A Imam, H E Ibrahim, M A A Farghaly, U M Alkholy, H H Gawish, N Abdalmonem, A M Sherif, Y F Ali, M E Hamed, N M Waked, M M Fathy, A M Khalil, M A Noah, M S Hegab, B R Ibrahim, R M Nabil, L A Fattah
Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism...
January 1, 2017: Lupus
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