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Genetic lupus

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https://www.readbyqxmd.com/read/28433894/a-functional-snp-mcp-1-2518a-g-predispose-to-renal-disorder-in-indian-systemic-lupus-erythematosus-patients
#1
Vinod D Umare, Vandana D Pradhan, Anjali G Rajadhyaksha, Kanjaksha Ghosh, Anita H Nadkarni
Systemic Lupus Erythematosus (SLE) is a clinically heterogeneous chronic, inflammatory autoimmune disorder that affects multiple organs where exact etiology of the disease is not yet clearly understood. Various evidences suggest that genetic polymorphisms in inflammatory mediators like cytokines and chemokines may influence development of the disease. Here, we investigated whether functional polymorphism at the Monocyte Chemoattractant Protein-1 (MCP-1) regulatory region associates with disease phenotype in Indian SLE patients...
April 20, 2017: Cytokine
https://www.readbyqxmd.com/read/28427360/association-of-novel-polymorphisms-in-tmem39a-gene-with-systemic-lupus-erythematosus-in-a-chinese-han-population
#2
Xinze Cai, Wenyue Huang, Xudong Liu, Lining Wang, Yi Jiang
BACKGROUND: This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS: We carried out a case-control study of 415 patients with SLE and 470 healthy controls without autoimmune disease or cancer. DNA for genetic analysis was isolated from the blood of all subjects using standard phenol-chloroform method...
April 20, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28424481/the-first-genome-wide-association-study-identifying-new-susceptibility-loci-for-obstetric-antiphospholipid-syndrome
#3
Mayumi Sugiura-Ogasawara, Yosuke Omae, Minae Kawashima, Licht Toyo-Oka, Seik-Soon Khor, Hiromi Sawai, Tetsuya Horita, Tatsuya Atsumi, Atsuko Murashima, Daisuke Fujita, Tomio Fujita, Shinji Morimoto, Eriko Morishita, Shinji Katsuragi, Tamao Kitaori, Kinue Katano, Yasuhiko Ozaki, Katsushi Tokunaga
Antiphospholipid syndrome (APS) is the most important treatable cause of recurrent pregnancy loss. The live birth rate is limited to only 70-80% in patients with APS undergoing established anticoagulant therapy. Lupus anticoagulant (LA), but not anticardiolipin antibody (aCL), was found to predict adverse pregnancy outcome. Recent genome-wide association studies (GWAS) of APS focusing on aCL have shown that several molecules may be involved. This is the first GWAS for obstetric APS focusing on LA. A GWAS was performed to compare 115 Japanese patients with obstetric APS, diagnosed according to criteria of the International Congress on APS, and 419 healthy individuals...
April 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28421864/selfie-autoimmunity
#4
Haseeb Ahsan
The immune system provides protection to tissues damaged by infectious microrganisms or physical damage. In autoimmune diseases, the immune system recognizes and attacks its own tissues i.e., self-destruction. Various agents such as genetic factors and environmental triggers are thought to play a major role in the development of autoimmune diseases. A common feature of all autoimmune diseases is the presence of autoantibodies and inflammation, including mononuclear phagocytes, autoreactive T lymphocytes and autoantibody producing B cells (plasma cells)...
April 19, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/28407558/cd11b-regulates-antibody-class-switching-via-induction-of-aid
#5
Seohyun Park, Hyunsub Sim, Hye-In Kim, Daecheol Jeong, Guang Wu, Soo Young Cho, Young Seek Lee, Hyung-Joo Kwon, Keunwook Lee
The integrin CD11b, which is encoded by the integrin subunit alpha M (ITGAM), is primarily expressed on the surface of innate immune cells. Genetic variations in ITGAM are among the strongest risk factors for systemic lupus erythematosus, an autoimmune disease characterized by the presence of autoantibodies. However, the regulatory function of CD11b in the antibody responses remains unclear. Here, we report the induction of CD11b in activated B2 B cells and define its unexpected role in immunoglobulin heavy chain class switch recombination (CSR)...
April 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28407315/drugs-with-antidepressant-properties-affect-tryptophan-metabolites-differently-in-rodent-models-with-depression-like-behavior
#6
Amanda Eskelund, Yan Li, David P Budac, Heidi K Müller, Gulinello Maria, Connie Sanchez, Gregers Wegener
The metabolism of tryptophan through kynurenine and serotonin pathways is linked to depression. Here, effects of different drugs with antidepressant properties (vortioxetine, fluoxetine and ketamine) on various tryptophan metabolites in different brain regions and plasma were examined using tandem mass spectrometry (LC-MS/MS), in Flinders Sensitive Line (FSL) rats, a genetic rat model of depression, and its controls: Flinders Resistant Line (FRL) and Sprague-Dawley (SD) rats. Protein levels of kynurenine pathway enzymes were measured in the brains and livers of these rat strains...
April 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28403670/genetic-variants-in-fh-are-associated-with-renal-histopathologic-subtypes-of-lupus-nephritis-a-large-cohort-study-from-china
#7
M Tan, J-B Hao, H Chu, F-M Wang, D Song, L Zhu, F Yu, Y-Z Li, Y Song, M-H Zhao
Objective Genetic variants in FH (complement factor H) were reported to associate with susceptibility to systemic lupus erythematosus (SLE). This study proposed that the genetic defects of FH in the susceptibility and in the development of lupus nephritis might be different. Methods This study enrolled 334 lupus nephritis patients, 269 SLE patients without clinical renal involvement and 350 controls. Two-step genotyping was performed. First, all the exons of the FH gene were fully sequenced in 100 lupus nephritis patients and 100 healthy controls...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28401431/sustained-immunosuppression-alters-olfactory-function-in-the-mrl-model-of-cns-lupus
#8
Minesh Kapadia, Hui Zhao, Donglai Ma, Boris Sakic
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is frequently accompanied by diverse neuropsychiatric manifestations. An increased frequency of olfactory deficits has been recently reported as another marker of CNS involvement in SLE patients. Similarly, we observed that spontaneous development of lupus-like disease in MRL/lpr mice is accompanied by altered olfaction-related behaviors. However, it remained unclear whether the behavioral deficits are due to systemic autoimmunity, or the distinct genetic make-up...
April 11, 2017: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/28394827/fibromyalgia-a-missed-comorbidity-in-spondyloarthritis-prevalence-and-impact-on-assessment-and-treatment
#9
Philip J Mease
PURPOSE OF REVIEW: Fibromyalgia is a clinical representation of the neurobiological phenomenon of central sensitization, characterized by chronic widespread pain, fatigue, sleep disturbance, and other symptoms. Fibromyalgia may occur in conjunction with chronic rheumatic diseases, driven by the effects of chronic pain and inflammation and likely influenced by the patient's genetic and psychoemotional background. This article reviews the data on prevalence of concomitant fibromyalgia and its impact on disease assessment in patients with spondyloarthritis (SpA) and psoriatic arthritis (PsA)...
April 7, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28389709/-familial-chilblain-lupus-type-1-interferonopathy-with-model-character
#10
REVIEW
C Fiehn
Familial chilblain lupus belongs to the group of type 1 interferonopathies and is particularly characterized by typical skin manifestations and ischemia of the acra. There are various mutations that can lead to this autosomal dominant disease. A mutation in the TREX-1 gene has been most frequently found; however, families with mutations in the SAMHD1 gene and recently in the gene which codes for the stimulator of interferon genes (STING) protein were also described. A common feature of these genetic defects is that they are all involved in the process of detection of intracellular free DNA, which as a result leads to increased production of type 1 interferons and the induced gene products...
April 7, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28382783/risk-of-allergic-conditions-in-children-born-to-women-with-systemic-lupus-erythematosus
#11
Julie Couture, Moshe Ben-Shoshan, Christian A Pineau, Susan Scott, Ann E Clarke, Sasha Bernatsky, Evelyne Vinet
OBJECTIVE: Limited evidence suggests a potentially increased risk of allergic conditions in offspring born to women with systemic lupus erythematosus (SLE). In a large population-based study, we aimed to determine if children born to SLE mothers have an increased risk of allergic conditions compared to children born to mothers without SLE. METHODS: Using the "Offspring of SLE mothers Registry (OSLER)", we identified children born live to SLE mothers and their matched controls, and ascertained allergic conditions (including asthma, allergic rhinitis, eczema, urticaria, angioedema, and anaphylaxis) based on ≥1 hospitalization or ≥1 or 2 physician(s) visit(s) with a relevant diagnostic code...
April 6, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28375453/pathways-leading-to-an-immunological-disease-systemic-lupus-erythematosus
#12
Olga Zharkova, Teja Celhar, Petra D Cravens, Anne B Satterthwaite, Anna-Marie Fairhurst, Laurie S Davis
SLE is a chronic autoimmune disease caused by perturbations of the immune system. The clinical presentation is heterogeneous, largely because of the multiple genetic and environmental factors that contribute to disease initiation and progression. Over the last 60 years, there have been a number of significant leaps in our understanding of the immunological mechanisms driving disease processes. We now know that multiple leucocyte subsets, together with inflammatory cytokines, chemokines and regulatory mediators that are normally involved in host protection from invading pathogens, contribute to the inflammatory events leading to tissue destruction and organ failure...
April 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28367431/a-3-year-old-girl-with-recurrent-infections-and-autoimmunity-due-to-a-stat1-gain-of-function-mutation-the-expanding-clinical-presentation-of-primary-immunodeficiencies
#13
Juan Carlos Aldave Becerra, Enrique Cachay Rojas
We report a 3-year-old Peruvian girl, born to non-consanguineous parents. At the age of 8 months, she had a severe pneumonia complicated with empyema that required thoracic drainage and mechanical ventilation. Although no microorganisms were isolated, the patient recovered with broad-spectrum antibiotics. Since that date, she has presented multiple episodes of pneumonia and recurrent episodes of bronchospasm. At 1 year 5 months of age, the patient began with recurrent episodes of oropharyngeal, vaginal, and skin candidiasis, which improved transiently after using oral azole drugs...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28365190/-kikuchi-fujimoto-disease-mimicking-malignant-lymphoma-in-adolescents
#14
A Escudier, S Courbage, V Meignin, S Abbou, S Sauvion, M Houlier, A Galerne, J Gaudelus, L de Pontual, M Simonin
Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis, is a rare cause of lymphadenopathy in children. This benign disease can mimic lymphoma and misleads doctors. It was first described in Asia, where it occurred especially in young women. Recent publications show that it can also affect teenagers and young adults in Caucasian populations. The pathophysiology remains unknown. Three hypotheses have been raised for this disease: the role of viruses (in particular HHV-8), genetic predisposition (two alleles in HLA class II genes were found more frequently in patients with Kikuchi disease), and an autoimmune cause because of the correlation with lupus erythematosus...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28352022/analysis-of-renal-diseases-detected-in-renal-biopsies-of-adult-patients-a-single-center-experience
#15
Salman Imtiaz, Murtaza F Drohlia, Kiran Nasir, Beena Salman, Aasim Ahmad
Renal biopsy is crucial while evaluating for the diagnosis of glomerular, vascular, tubulointerstitial, and genetic diseases. It gives vital information which helps in estimating the disease prognosis, progression, and management. This is the retrospective analysis of all adult patients aged above 18 years, who underwent percutaneous renal biopsy at The Kidney Center Post Graduate Training Institute, Karachi, over a duration of 18 years, i.e., January 1, 1996, to December 2013. Renal graft biopsies and those which were inadequate were excluded from analysis...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28339516/improving-a-full-text-search-engine-the-importance-of-negation-detection-and-family-history-context-to-identify-cases-in-a-biomedical-data-warehouse
#16
Nicolas Garcelon, Antoine Neuraz, Vincent Benoit, Rémi Salomon, Anita Burgun
Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW). Materials and Methods: We developed a pipeline to process 1...
May 1, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339495/microrna-expression-profiles-identify-disease-specific-alterations-in-systemic-lupus-erythematosus-and-primary-sj%C3%A3-gren-s-syndrome
#17
Ji-Qing Chen, Gábor Papp, Szilárd Póliska, Krisztina Szabó, Tünde Tarr, Bálint László Bálint, Péter Szodoray, Margit Zeher
The discovery of microRNAs (miRNAs) and their critical role in genetic control opened new avenues in understanding of various biological processes including immune cell lineage commitment, differentiation, proliferation and apoptosis. However, a given miRNA may have hundreds of different mRNA targets and a target might be regulated by multiple miRNAs, thus the characterisation of dysregulated miRNA expression profiles could give a better insight into the development of immunological disturbances in autoimmune diseases...
2017: PloS One
https://www.readbyqxmd.com/read/28324194/sex-differences-in-the-blood-concentration-of-tacrolimus-in-systemic-lupus-erythematosus-and-rheumatoid-arthritis-patients-with-cyp3a5-3-3
#18
Ayano Ito, Yuko Okada, Tadahiro Hashita, Tohru Aomori, Keiju Hiromura, Yoshihisa Nojima, Tomonori Nakamura, Takuya Araki, Koujirou Yamamoto
The purpose of this study was to describe the impact of sex and cytochrome P450 3A5 (CYP3A5) variant on the blood concentration of tacrolimus in patients with systemic lupus erythematosus or rheumatoid arthritis. The blood concentration of tacrolimus (ng/mL) divided by the daily dose of tacrolimus (mg/day) and the patient's weight (kg) (C/D) was obtained from 55 patients. The C/D value was analysed according to genetic variation in CYP3A5 or ATP binding cassette subfamily B member 1 (ABCB1), sex, and age. The C/D value in the CYP3A5*3/*3 group was significantly higher than in the CYP3A5*1/*1 and *1/*3 groups (p < 0...
March 21, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28322578/interview-with-amr-h-sawalha-epigenetics-and-autoimmunity
#19
Amr H Sawalha
Amr H Sawalha is Professor of Internal Medicine and Marvin and Betty Danto Research Professor of Connective Tissue Research at the University of Michigan, Department of Internal Medicine, Division of Rheumatology. He also holds faculty appointments at the Center for Computational Medicine and Bioinformatics and the Graduate Program in Immunology at the University of Michigan. He was recently appointed as Guest Professor at Central South University in Changsha, China. He received his medical degree from Jordan University of Science and Technology and completed his residency training in internal medicine at the University of Oklahoma Health Sciences Center, and his fellowship in rheumatology at the University of Michigan...
March 21, 2017: Epigenomics
https://www.readbyqxmd.com/read/28302420/a-cryptic-mitochondrial-dna-link-between-north-european-and-west-african-dogs
#20
Adeniyi C Adeola, Sheila C Ommeh, Jiao-Jiao Song, S Charles Olaogun, Oscar J Sanke, Ting-Ting Yin, Guo-Dong Wang, Shi-Fang Wu, Zhong-Yin Zhou, Jacqueline K Lichoti, Bernard R Agwanda, Philip M Dawuda, Robert W Murphy, Min-Sheng Peng, Ya-Ping Zhang
Domestic dogs have an ancient origin and a long history in Africa. Nevertheless, the timing and sources of their introduction into Africa remain enigmatic. Herein, we analyse variation in mitochondrial DNA (mtDNA) D-loop sequences from 345 Nigerian and 37 Kenyan village dogs plus 1530 published sequences of dogs from other parts of Africa, Europe and West Asia. All Kenyan dogs can be assigned to one of three haplogroups (matrilines; clades): A, B, and C, while Nigerian dogs can be assigned to one of four haplogroups A, B, C, and D...
March 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
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