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https://www.readbyqxmd.com/read/28544690/deficiency-of-complement-1r-subcomponent-in-early-onset-sle-role-for-disease-modifying-alleles-in-a-monogenic-disease
#1
Erkan Demirkaya, Qing Zhou, Carolyne K Smith, Michael J Ombrello, Natalie Deuitch, Wanxia L Tsai, Patrycja Hoffmann, Elaine F Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C Chandrasekharappa, Sarfaraz A Hasni, Amanda K Ombrello, Massimo Gadina, Daniel L Kastner, Mariana J Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich
OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of disease. METHODS: We performed whole exome sequencing (WES) and SNP array genotyping in affected and unaffected family members. Protein studies, gene expression, cytokine profiling, neutrophil extracellular trap formation, and presence of low-density granulocytes were evaluated in patient primary cells and serum samples...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28540895/pattern-of-acute-glomerulonephritis-in-adult-population-in-dubai-a-single-center-experience
#2
Amna K Alhadari, Fakhriya J Alalawi, Ayman Aly Seddik, Kaneez Zahra, Dileep Kumar, Hussain Yousif, Hind Alnour, Michael Jansen, Mohammad J Railey
Epidemiological data of renal diseases have great geographic variability throughout the world. Due to the lack of a national renal data registry system, there is no information on the prevalence rate, clinical and pathological features of various glomerulonephritis (GN) in the United Arab Emirates (UAE). In a retrospective cross-sectional study, we analyzed 158 renal biopsies done in Dubai Hospital, UAE, between the years of 2005 and September 2014, with an aim to determine the prevalence rate and frequency of different pathological patterns of GN in adult patients who presented with proteinuria ± hematuria...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28538512/necrotizing-ulcer-after-bcg-vaccination-in-a-girl-with-leukocyte-adhesion-deficiency-type-1
#3
Hidemitsu Kurosawa, Tomoyuki Mizukami, Hiroyuki Nunoi, Masaya Kato, Yuya Sato, Mayuko Okuya, Keitaro Fukushima, Yoshihiko Katsuyama, Osamu Arisaka
Leukocyte-adhesion deficiency-1 is a recessively inherited disorder associated with recurrent bacterial infections, severe periodontitis, peripheral leukocytosis, and impaired wound healing. We diagnosed moderate-type leukocyte-adhesion deficiency-1 in a 7-year-old girl who developed a necrotizing ulcer after Bacillus Calmette-Guerin vaccination. The patient showed moderate expression of CD18 in neutrophils with a homozygous splice mutation with c.41_c.58+2dup20 of ITGB2 and experienced recurrent severe infections complicated with systemic lupus erythematosus...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28536104/development-and-validation-of-qrisk3-risk-prediction-algorithms-to-estimate-future-risk-of-cardiovascular-disease-prospective-cohort-study
#4
Julia Hippisley-Cox, Carol Coupland, Peter Brindle
Objectives To develop and validate updated QRISK3 prediction algorithms to estimate the 10 year risk of cardiovascular disease in women and men accounting for potential new risk factors.Design Prospective open cohort study.Setting General practices in England providing data for the QResearch database.Participants 1309 QResearch general practices in England: 981 practices were used to develop the scores and a separate set of 328 practices were used to validate the scores. 7.89 million patients aged 25-84 years were in the derivation cohort and 2...
May 23, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28530466/angiotensin-type-1-receptor-a1166c-polymorphism-and-systemic-lupus-erythematosus-correlation-with-cellular-immunity-and-oxidative-stress-markers
#5
H Baniamerian, F Bahrehmand, A Vaisi-Raygani, Z Rahimi, T Pourmotabbed
Angiotensin II, one of the rennin-angiotensin system components, is important in the cardiovascular hemodynamic and plays an important role in the development of cardiovascular disease in systemic lupus erythematosus (SLE) patients. The angiotensin II, through interaction with angiotensin II type 1 receptor (AGTR1), promotes proliferation, inflammation and fibrosis. The single nucleotide polymorphism of the AGTR1 (dbSNP: rs5186) gene can be associated with development and progression of SLE disease. The aims of this study were to compare the frequency of AGTR1 rs5186 in SLE patients with healthy individuals and to evaluate possible association between AGTR1 A1166C gene polymorphism and serum level of lipids, neopterin and malondialdehyde in SLE patients from a population of West Iran...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28528869/pure-membranous-lupus-nephritis-description-of-a-cohort-of-150-patients-and-review-of-the-literature
#6
Lucía Silva-Fernández, Teresa Otón, Anca Askanase, Patricia Carreira, Francisco Javier López-Longo, Alejandro Olivé, Íñigo Rúa-Figueroa, Javier Narváez, Esther Ruiz-Lucea, Mariano Andrés, Enrique Calvo, Francisco Toyos, Juan José Alegre-Sancho, Eva Tomero, Carlos Montilla, Antonio Zea, Esther Uriarte, Jaime Calvo-Alén, Carlos Marras, Víctor M Martínez-Taboada, María Ángeles Belmonte-López, José Rosas, Enrique Raya, Gema Bonilla, Mercedes Freire, José María Pego-Reigosa, Isabel Millán, Adwoa Hughes-Morley
OBJECTIVES: The course and long-term outcome of pure membranous lupus nephritis (MLN) are little understood. The aims of this study are to evaluate the clinical features, course, outcome and prognostic indicators in pure MLN and to determine the impact of ethnicity and the type of health insurance on the course and prognosis of pure MLN. METHODS: We conducted a retrospective review of medical records of 150 patients with pure MLN from Spain and the USA. RESULTS: Mean age was 34...
May 18, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28525589/bone-marrow-involvement-in-systemic-lupus-erythematosus
#7
Emilie Chalayer, Nathalie Costedoat-Chalumeau, Odile Beyne-Rauzy, Jacques Ninet, Stephane Durupt, Jacques Tebib, Bouchra Asli, Olivier Lambotte, Martine Ffrench, Christian Vasselon, Pascal Cathébras
BACKGROUND: Besides peripheral cytopenias, bone marrow abnormalities, such as fibrosis, pure red cell aplasia, and aplastic anemia have been reported in patients with systemic lupus erythematosus (SLE), suggesting that bone marrow may be a target organ in SLE. Our objective was to describe this bone marrow involvement. METHODS: This registry is a nationwide retrospective study. Centers provided data concerning medical history, SLE manifestations, type of hematologic disorder, treatments and outcome...
May 19, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28525378/irf5-is-elevated-in-childhood-onset-sle-and-regulated-by-histone-acetyltransferase-and-histone-deacetylase-inhibitors
#8
Jin Shu, Ling Li, Lan-Bo Zhou, Jun Qian, Zhi-Dan Fan, Li-Li Zhuang, Lu-Lu Wang, Rui Jin, Hai-Guo Yu, Guo-Ping Zhou
Interferon regulatory factor 5 (IRF5) plays a critical role in the induction of type I interferon, proinflammatory cytokines and chemokines, and participates in the pathogenesis of autoimmune diseases such as systemic lupus erythematosus (SLE). However, the relationship between IRF5 and childhood-onset SLE remains elusive. In the present study, we demonstrated that levels of mRNA expression of IRF5, IFN-α, and Sp1 were significantly increased in childhood-onset SLE, as seen on quantitative real-time PCR, and the expression of Sp1 and IFN-α was positively correlated with IRF5...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28515361/lupus-and-proliferative-nephritis-are-pad4-independent-in-murine-models
#9
Rachael A Gordon, Jan M Herter, Florencia Rosetti, Allison M Campbell, Hiroshi Nishi, Michael Kashgarian, Sheldon I Bastacky, Anthony Marinov, Kevin M Nickerson, Tanya N Mayadas, Mark J Shlomchik
Though recent reports suggest that neutrophil extracellular traps (NETs) are a source of antigenic nucleic acids in systemic lupus erythematosus (SLE), we recently showed that inhibition of NETs by targeting the NADPH oxidase complex via cytochrome b-245, β polypeptide (cybb) deletion exacerbated disease in the MRL.Faslpr lupus mouse model. While these data challenge the paradigm that NETs promote lupus, it is conceivable that global regulatory properties of cybb and cybb-independent NETs confound these findings...
May 18, 2017: JCI Insight
https://www.readbyqxmd.com/read/28512017/a-case-of-autoimmune-severe-acquired-von-willebrand-syndrome-type-3-like
#10
Chakri Gavva, Prapti Patel, Yu-Min Shen, Eugene Frenkel, Ravi Sarode
Von Willebrand disease (VWD) is the most common congenital bleeding disorder and is due to quantitative or qualitative defects of von Willebrand factor (VWF). Acquired defects of VWF, termed acquired von Willebrand syndrome (AVWS), are due to a host of different mechanisms. Autoantibody-mediated AVWS may be associated with lymphoproliferative or immunological disorders, such as systemic lupus erythematosus (SLE). A large majority of AVWS cases are type 1 or type 2A-like and patients tend to have a mild to moderate bleeding tendency...
April 27, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28506339/-effect-of-allergic-rhinitis-on-disease-condition-and-treatment-in-patients-with-juvenile-onset-systemic-lupus-erythematosus
#11
Yan-Qing Zhou, Lan-Fang Cao, Ru-Ru Guo, Le-Ping Li, Hui-Fen Fang
OBJECTIVE: To investigate the effect of allergic rhinitis (AR) and its intervention on disease condition and medications in patients with juvenile-onset systemic lupus erythematosus (JSLE). METHODS: The clinical data of 96 children diagnosed with JSLE were collected, and according to the presence or absence of AR or other allergic diseases, they were divided into AR group (n=44), non-AR group (n=20), and non-allergic group (n=32). The children in the AR group were randomly administered with or without intervention (n=22 each)...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28499424/ultrastructural-deposits-appearing-as-zebra-bodies-in-renal-biopsy-fabry-disease-comparative-case-reports
#12
Precil Diego Miranda de Menezes Neves, Juliana Reis Machado, Fabiano Bichuette Custódio, Maria Luíza Gonçalves Dos Reis Monteiro, Shigueo Iwamoto, Marlene Freire, Marisa França Ferreira, Marlene Antônia Dos Reis
BACKGROUND: Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced renal phospholipidosis. CASE PRESENTATION: Case 1: A 28-year-old female patient with systemic lupus erythematosus who had been using hydroxychloroquine for 14 months presented subnephrotic proteinuria. Renal biopsy showed deposits compatible with FD...
May 12, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28492006/evaluation-of-prolactin-levels-in-patients-with-newly-diagnosed-pemphigus-vulgaris-and-its-correlation-with-pemphigus-disease-area-index
#13
Vahideh Lajevardi, Zahra Hallaji, Maryam Daneshpazhooh, Narges Ghandi, Peyman Shekari, Sepideh Khani
BACKGROUND: Prolactin is a hormone; in addition to it known roles, it has immunomodulatory effects on lymphocytes maturation and immunoglobulins production. Hyperprolactinemia has been demonstrated in various autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, type I diabetes mellitus, and Graves' disease. In view of the prolactin immunomodulatory roles, studying prolactin levels in pemphigus as an autoimmune blistering disease may introduce new ways of understanding disease etiology and developing treatment strategies...
June 2016: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28483540/peripheral-nervous-system-involvement-in-systemic-lupus-erythematosus-prevalence-clinical-and-immunological-characteristics-treatment-and-outcome-of-a-large-cohort-from-a-single-centre
#14
REVIEW
Pilar Toledano, Ramón Orueta, Ignasi Rodríguez-Pintó, Josep Valls-Solé, Ricard Cervera, Gerard Espinosa
Disorders of peripheral nervous system in patients with systemic lupus erythematosus (PNS-SLE) are a major cause of morbidity. The aims of the present study were to determine the prevalence of PNS-SLE involvement in a large cohort of SLE patients from a single centre, to characterize such involvement, treatment modalities and outcome, and to identify the possible variables that may be associated with its presence. We performed an observational cross-sectional study that included all SLE patients being followed in our department between March and December 2015 who met at least one of the PNS-SLE case definitions proposed in 1999 by the American College of Rheumatology...
May 5, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28479483/coffee-and-autoimmunity-more-than-a-mere-hot-beverage
#15
REVIEW
Kassem Sharif, Abdulla Watad, Nicola Luigi Bragazzi, Mohammad Adawi, Howard Amital, Yehuda Shoenfeld
Coffee is one of the world's most consumed beverage. In the last decades, coffee consumption has attracted a huge body of research due to its impact on health. Recent scientific evidences showed that coffee intake could be associated with decreased mortality from cardiovascular and neurological diseases, diabetes type II, as well as from endometrial and liver cancer, among others. In this review, on the basis of available data in the literature, we aimed to investigate the association between coffee intake and its influence on the immune system and the insurgence of the most relevant autoimmune diseases...
May 4, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28475762/epigenome-wide-association-study-of-rheumatoid-arthritis-identifies-differentially-methylated-loci-in-b-cells
#16
Antonio Julià, Devin Absher, María López-Lasanta, Nuria Palau, Andrea Pluma, Lindsay Waite Jones, John R Glossop, William E Farrell, Richard M Myers, Sara Marsal
Epigenetic regulation of immune cell types could be critical for the development and maintenance of autoimmune diseases like Rheumatoid Arthritis (RA). B cells are highly relevant in RA, since patients express autoantibodies and depleting this cell type is a successful therapeutic approach. Epigenetic variation, such as DNA methylation, may mediate the pathogenic activity of B cells. In this study, we performed an epigenome-wide association study (EWAS) for RA with three different replication cohorts, to identify disease-specific alterations in DNA methylation in B cells...
May 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28472109/enherv-enrichment-analysis-of-specific-human-endogenous-retrovirus-patterns-and-their-neighboring-genes
#17
Pumipat Tongyoo, Yingyos Avihingsanon, Santhitham Prom-On, Apiwat Mutirangura, Wuttichai Mhuantong, Nattiya Hirankarn
Human endogenous retroviruses (HERVs) are flanked by long terminal repeats (LTRs), which contain the regulation part of the retrovirus. Remaining HERVs constitute 7% to 8% of the present day human genome, and most have been identified as solo LTRs. The HERV sequences have been associated with several molecular functions as well as certain diseases in human, but their roles in human diseases are yet to be established. We designed EnHERV to make accessible the identified endogenous retrovirus repetitive sequences from Repbase Update (a database of eukaryotic repetitive elements) that are present in the human genome...
2017: PloS One
https://www.readbyqxmd.com/read/28471497/haploinsufficiency-of-nadph-oxidase-subunit-ncf2-is-sufficient-to-accelerate-full-blown-lupus-in-nzm-2328-mice
#18
Chaim O Jacob, Ning Yu, Dae-Goon Yoo, Lizet J Perez-Zapata, Emilia Alina Barbu, Mariana J Kaplan, Monica Purmalek, Jeanette T Pingel, Rachel A Idol, Mary C Dinauer
OBJECTIVE: We have previously established that NCF2 (Neutrophil cytosolic factor 2) is a lupus predisposing gene and identified lupus patients with point mutations that are predicted to cause reduced NADPH oxidase activity. This study was undertaken to investigate the relationship between reduced leukocyte NADPH oxidase activity and immune dysregulation associated with SLE. METHODS: We generated NCF2-null mice, in which NADPH oxidase activity is absent, on the non-autoimmune C57BL/6 background and on the NZM...
May 4, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28470479/epigenetic-variability-in-systemic-lupus-erythematosus-what-we-learned-from-genome-wide-dna-methylation-studies
#19
REVIEW
Maria Teruel, Amr H Sawalha
PURPOSE OF REVIEW: DNA methylation has emerged as an important contributing factor in the pathogenesis of systemic lupus erythematosus (SLE). Here, we describe the DNA methylation patterns identified in SLE and how these epigenetic changes can influence disease susceptibility, clinical heterogeneity, and disease flares. RECENT FINDINGS: Several genome-wide DNA methylation studies have been recently completed in SLE. Important observations include robust demethylation of interferon-regulated genes, which is consistent across all cell types studied to date, and is independent of disease activity...
June 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28469477/crosstalk-between-apoptosis-and-autophagy-environmental-genotoxins-infection-and-innate-immunity
#20
REVIEW
Michael G Kemp
Autoimmune disorders constitute a major and growing health concern. However, the genetic and environmental factors that contribute to or exacerbate disease symptoms remain unclear. Type I interferons (IFNs) are known to break immune tolerance and be elevated in the serum of patients with autoimmune diseases such as lupus. Extensive work over the past decade has characterized the role of a protein termed stimulator of interferon genes, or STING, in mediating IFN expression and activation in response to cytosolic DNA and cyclic dinucleotides...
2017: Journal of Cell Death
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