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juvenile systemic lupus

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https://www.readbyqxmd.com/read/28056736/investigation-of-associations-between-autoimmunity-associated-variants-in-pdcd1-and-juvenile-idiopathic-arthritis
#1
Christina I Tejeda, K Alaine Broadaway, Milton R Brown, Lori A Ponder, Michael J Ombrello, Mina Rohani Pichavant, Gabriel Wang, Sheila T Angeles-Han, Aimee O Hersh, John F Bohnsack, Karen N Conneely, Michael P Epstein, Sampath Prahalad
PURPOSE: Variants in the gene encoding Programmed Cell Death-1 (PDCD1) have been associated with susceptibility to Systemic Lupus Erythematosus and other autoimmune diseases. Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors, variants in PDCD-1 were tested for a possible association with Juvenile Idiopathic Arthritis (JIA). METHODS: Four single nucleotide polymorphisms (SNPS) in the PDCD1 gene were genotyped and analyzed: rs10204525, rs7568402, rs7421861 and rs11568821 in 834 cases and 855 self-identified Caucasian controls...
January 4, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28040420/clinical-phenotype-and-outcome-in-lupus-according-to-age-a-comparison-between-juvenile-and-adult-onset
#2
Rita Fonseca, Francisca Aguiar, Mariana Rodrigues, Iva Brito
OBJECTIVE: To study differences in demographic, clinical and immunologic characteristics, activity and cumulative organ damage according to age of onset in systemic lupus erythematosus (SLE). METHODS: Cross-sectional study was performed including 204 SLE patients. Characteristics were compared between juvenile and adult-onset SLE patients using parametric and nonparametric tests (SPSS 23.0). RESULTS: Juvenile-SLE patients had malar rash more often (78...
December 28, 2016: Reumatología Clinica
https://www.readbyqxmd.com/read/28039062/familial-and-syndromic-lupus-share-the-same-phenotype-as-other-early-onset-forms-of-lupus
#3
Olivia Weill, Stéphane Decramer, Christophe Malcus, Behrouz Kassai, Isabelle Rouvet, Tiphanie Ginhoux, Yanick Crow, Fredéric Rieux-Laucat, Pauline Soulas-Sprauel, Anne Pagnier, Isabelle Koné-Paut, Maryam Piram, Caroline Galeotti, Charlotte Samaille, Héloïse Reumaux, Aurélia Lanteri, Sandrine Morell Dubois, Hélène Lefebvre, Stéphane Burtey, François Maurier, Aurélia Carbasse, Irène Lemelle, Ulrich Meinzer, Véronique Despert, Hugues Flodrops, Nicole Fabien, Bruno Ranchin, Eric Hachulla, Brigitte Bader Meunier, Alexandre Belot
OBJECTIVE: Studies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE. METHODS: GENIAL/LUMUGENE is a French nationwide study of the clinical, immunological, and genetic features of juvenile-onset SLE (clinicaltrials...
December 27, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28011646/infection-related-hospitalization-and-risk-of-end-stage-renal-disease-in-patients-with-systemic-lupus-erythematosus-a-nationwide-population-based-study
#4
Chien-Hung Lin, Peir-Haur Hung, Hsiao-Yun Hu, Yann-Jang Chen, How-Ran Guo, Kuan-Yu Hung
BACKGROUND: Infections are a major cause of morbidity in patients with systemic lupus erythematosus (SLE), and may lead to death. No nationally representative study of patients with SLE has examined the rates of infection-related hospitalization and the risk of end-stage renal disease (ESRD). METHODS: We conducted a nationwide cohort study of 7326 patients with newly diagnosed SLE and no history of ESRD. All data were from Taiwan's National Health Insurance claims database for the period 2000-11...
December 22, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28003329/early-onset-juvenile-sle-associated-with-a-novel-mutation-in-protein-kinase-c-%C3%AE
#5
Sira Nanthapisal, Ebun Omoyinmi, Claire Murphy, Ariane Standing, Michael Eisenhut, Despina Eleftheriou, Paul A Brogan
Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in the context of a family history and/or consanguinity. We performed whole-exome sequencing and homozygosity mapping in the siblings presented with early-onset jSLE. A novel homozygous missense mutation in protein kinase C delta (c.1294G>T; p.Gly432Trp) was identified in both patients. One patient showed a marked clinical response and resolution inflammation with rituximab therapy...
January 2017: Pediatrics
https://www.readbyqxmd.com/read/27994173/transgenic-overexpression-of-baff-regulates-the-expression-of-immune-related-genes-in-zebrafish-danio-rerio
#6
Li Zhang, Chao Liu, Xin Zhou, Ying Xie, Libo Su, Qi Geng, Binghui Liu, Shufeng Liu
The B-cell activating factor (BAFF) is a member of tumour necrosis factor (TNF) superfamily that specifically regulates B lymphocyte proliferation and survival. Excess BAFF leads to overproduction of antibodies for secretion, anti-dsDNA antibodies and a lupus-like syndrome in mice. To investigate whether transgenic overexpression of the zebrafish BAFF leads to immunoglobulin changes and/or early maturing of the immune system, a Tol2-GFP-2A-BAFF/His recombinant plasmid was constructed by inserting a 2A peptide between the green fluorescent protein (GFP) and BAFF sequences...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27987494/-significance-of-glucose-6-phosphate-isomerase-assay-in-early-diagnosis-of-rheumatoid-arthritis
#7
J Xu, J Liu, L Zhu, X W Zhang, Z G Li
OBJECTIVE: To explore the titer of glucose-6-phosphate isomerase (GPI) for early diagnosis of the outpatient with rheumatoid arthritis (RA) in real life, and to analyze its relationship with disease activity. METHODS: In the study, 1 051 patients with arthritis were collected in the group who had joints tender and swelling, and 90 cases of healthy people as a control group. ELISA method was used to detect the serum level of GPI, and according to clinical features and laboratory test, all the patients including 525 RA patients, the other patients including osteoarthritis (OA), 134 cases of seronegative spine joint disease (SpA), 104 cases of systemic lupus erythematosus (SLE), 31 cases of primary Sjogren syndrome (pSS), 24 cases of gout arthritis (GA), 22 cases of other connective tissue diseases (including polymyalgia rheumatica, dermatomyositis, systemic sclerosis, adult Still disease) and 46 cases of other diseases (including 165 cases of osteoporosis, avascular necrosis of the femoral head, traumatic osteomyelitis, bone and joint disease, juvenile rheumatoid arthritis, tumor)...
December 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27968927/autoimmune-collagen-vascular-diseases-kids-are-not-just-little-people
#8
Sean Timpane, Heather Brandling-Bennett, Arni K Kristjansson
Morphea, dermatomyositis (DM), and discoid lupus erythematosus (DLE) are autoimmune collagen vascular diseases that can present at any age. In all three of these diseases, the tenants of diagnosis and treatment are largely the same in both children and adults, with a few notable differences. Children with morphea are more likely to present with the linear subtype and have a higher incidence of extracutaneous manifestations. Children often need early aggressive systemic treatment to try to prevent long-term sequelae of morphea...
November 2016: Clinics in Dermatology
https://www.readbyqxmd.com/read/27943079/assessment-of-type-i-interferon-signaling-in-pediatric-inflammatory-disease
#9
Gillian I Rice, Isabelle Melki, Marie-Louise Frémond, Tracy A Briggs, Mathieu P Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader-Meunier, Alexandre Belot, Christine Bodemer, Pierre Quartier, Yanick J Crow
PURPOSE: Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routine clinical practice to identify enhanced interferon signaling, thus limiting the ability to diagnose and monitor treatment of these diseases. Here, we set out to investigate the use of an assay measuring the expression of a panel of interferon-stimulated genes (ISGs) in children affected by a range of inflammatory diseases...
December 9, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27914688/systematic-review-of-rheumatic-disease-epidemiology-in-the-indigenous-populations-of-canada-the-united-states-australia-and-new-zealand
#10
REVIEW
Cairistin McDougall, Kelle Hurd, Cheryl Barnabe
OBJECTIVE: Past publications have highlighted an excess rheumatic disease incidence and prevalence in indigenous populations of Canada (First Nations, Inuit, and Métis), and the United States of America (Alaska Native and American Indian). We have updated these reviews and expanded the scope to include New Zealand (Maori) and Australia (Aborigine) indigenous populations. METHODS: We performed a broad search using medical literature databases, indigenous specific online indexes, and government websites to identify publications reporting the incidence and/or prevalence of arthritis conditions (rheumatoid arthritis, spondyloarthropathies, gout, osteoarthritis, systemic autoimmune rheumatic diseases, and juvenile idiopathic arthritis) in the indigenous populations of Canada, America, New Zealand, and Australia...
November 1, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/27904204/a-rare-case-of-juvenile-systemic-lupus-erythematosus-with-disseminated-histoplasmosis
#11
Piyabi Sarkar, Keya Basu, Mamata Guha Mallick Sinha
Histoplasmosis is a systemic fungal infection caused by dimorphic fungus, Histoplasma capsulatum. Immunocompetent individuals usually have self-limiting or localized disease whereas immunocompromised individuals develop disseminated disease. The occurrence of progressive disseminated histoplasmosis in juvenile systemic lupus erythematosus is extremely rare with only one reported case in literature showing such association. Therefore, we report a case of severe opportunistic fungal infection caused by Histoplasma in a 13-year-old girl who was diagnosed with juvenile lupus erythematosus, subsequently developed septic shock and died of the disease despite of aggressive antifungal therapy...
November 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27900491/treatable-renal-disease-in-children-with-silent-lupus-nephritis-detected-by-baseline-biopsy-association-with-serum-c3-levels
#12
Hiroyuki Wakiguchi, Syuji Takei, Tomohiro Kubota, Akinori Miyazono, Yoshifumi Kawano
Lupus nephritis is identified in up to 75% of patients with juvenile systemic lupus erythematosus and may present with abnormal urinary findings (overt lupus nephritis) or be apparent only upon renal biopsy (silent lupus nephritis). We investigated whether serum complement levels correlate with renal pathology in pediatric patients with silent lupus nephritis. We performed baseline renal biopsy in 45 children diagnosed with juvenile systemic lupus erythematosus who were admitted to Kagoshima University Hospital between January 2000 and June 2015...
November 30, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27771618/juvenile-systemic-lupus-erythematosus-in-nigeria
#13
O O Adelowo, B H Olaosebikan, B A Animashaun, R O Akintayo
Juvenile systemic lupus erythematosus (JSLE) is a complex multisystemic autoimmune disorder of unknown cause. It accounts for about one in five cases of SLE. The tendency for SLE to run a fulminant course when it starts in childhood has made JSLE a potentially more severe disease than adult SLE. Reports of JSLE from sub-Saharan Africa are scanty in spite of the increasing reports of adult SLE. We conducted a 4-year retrospective study of JSLE cases seen at the Lagos State University Teaching Hospital between January 2010 and December 2014...
October 21, 2016: Lupus
https://www.readbyqxmd.com/read/27746022/association-between-demyelinating-disease-and-autoimmune-rheumatic-disease-in-a-pediatric-population
#14
Ana Luiza M Amorim, Nadia C Cabral, Fabiane M Osaku, Claudio A Len, Enedina M L Oliveira, Maria Teresa Terreri
INTRODUCTION: Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. OBJECTIVE: To evaluate an association of MS and NMO with autoimmune rheumatic diseases in pediatric patients...
September 28, 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27692000/frequency-of-autoimmune-disorders-and-autoantibodies-in-patients-with-neuromyelitis-optica
#15
Wildéa Lice de Carvalho Jennings Pereira, Edna Maria Vissoci Reiche, Ana Paula Kallaur, Sayonara Rangel Oliveira, Andréa Name Colado Simão, Marcell Alysson Batisti Lozovoy, Lucas José Vaz Schiavão, Paula Raquel do Vale Pascoal Rodrigues, Daniela Frizon Alfieri, Tamires Flauzino, Damacio Ramón Kaimen-Maciel
OBJECTIVE: The aim of this study was to report the frequency of autoimmune disorders and autoantibodies in 22 patients with neuromyelitis optica (NMO), as well as whether the seropositivity for autoantibodies differs between anti-aquaporin 4 (AQP4) positive and AQP4 negative NMO patients. METHODS: Demographic, medical records, and a profile of autoantibodies were evaluated in 22 NMO patients, including AQP4, anti-thyroid-stimulating hormone receptor, antinuclear antibodies (ANA), anti-thyroperoxidase (anti-TPO), anti-thyroglobulin (anti-Tg), anti-double-stranded DNA, anti-neutrophil cytoplasmic, anti-cyclic citrullinate peptide, rheumatoid factor, anti-SSA/Ro, anti-SSB/La, anti-Smith antibodies (anti-Sm), anti-ribonucleoprotein, anti-nucleosome, and anti-Scl70...
October 3, 2016: Acta Neuropsychiatrica
https://www.readbyqxmd.com/read/27629113/characterization-of-chronic-arthritis-in-a-multicenter-study-of-852-childhood-onset-systemic-lupus-erythematosus-patients
#16
Ana Paula Sakamoto, Clovis Artur Silva, Mariana Paes Leme Ferriani, Rosa Maria Rodrigues Pereira, Eloisa Bonfá, Claudia Saad-Magalhães, Eunice Okuda, Simone Appenzeller, Francisco Hugo Gomes, Ana Luiza Garcia Cunha, Mirna Henriques Tomich Salume, Daniela Petry Piotto, Maria Teresa Terreri
Chronic arthritis (CA) is an unusual condition in childhood-onset systemic lupus erythematosus (cSLE) and data in children is very limited. The aim of the study is to assess CA in a large population of cSLE patients, in a multicenter cross-sectional study including 852 cSLE patients followed in ten Pediatric Rheumatology referral services in state of São Paulo, Brazil. CA was observed in 32/852 (3.7 %) cSLE patients mostly in hands and ankles. Chronic monoarthritis was diagnosed in four cSLE patients, oligoarthritis in nine and polyarthritis in 19...
September 14, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27598847/ophthalmic-manifestations-in-chronic-inflammatory-rheumatic-diseases-at-a-referral-hospital-of-yaounde-cameroon
#17
Christelle Domngang Noche, Giles Kagmeni, Viola Dohvoma, Assumpta Lucienne Bella, Come Ebana Mvogo, Madeleine Singwe-Ngandeu
PURPOSE: To determine the profile of ophthalmic manifestations in chronic inflammatory rheumatic diseases (CIRD). METHODS: Observational study at the Yaounde Central Hospital and Innel Medical Centre (2004 to 2012). RESULTS: The study population (n = 36) consisted of 14 men and 22 women with average age of 47.9 ± 17.2 years. Cases of CIRD were rheumatoid arthritis (n = 16), systemic lupus erythematosus (n = 8), ankylosing spondylitis (n = 8), mixed connective tissue disease (n = 2), scleroderma (n = 1), and juvenile idiopathic arthritis (n = 1)...
September 6, 2016: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/27590021/international-validation-of-a-urinary-biomarker-panel-for-identification-of-active-lupus-nephritis-in-children
#18
Eve Mary Dorothy Smith, Andrea Lyn Jorgensen, Angela Midgley, Louise Oni, Beatrice Goilav, Chaim Putterman, Dawn Wahezi, Tamar Rubinstein, Diana Ekdawy, Rachel Corkhill, Caroline Ann Jones, Stephen David Marks, Paul Newland, Clarissa Pilkington, Kjell Tullus, Michael William Beresford
BACKGROUND: Conventional markers of juvenile-onset systemic lupus erythematosus (JSLE) disease activity fail to adequately identify lupus nephritis (LN). While individual novel urine biomarkers are good at detecting LN flares, biomarker panels may improve diagnostic accuracy. The aim of this study was to assess the performance of a biomarker panel to identify active LN in two international JSLE cohorts. METHODS: Novel urinary biomarkers, namely vascular cell adhesion molecule-1 (VCAM-1), monocyte chemoattractant protein 1 (MCP-1), lipocalin-like prostaglandin D synthase (LPGDS), transferrin (TF), ceruloplasmin, alpha-1-acid glycoprotein (AGP) and neutrophil gelatinase-associated lipocalin (NGAL), were quantified in a cross-sectional study that included participants of the UK JSLE Cohort Study (Cohort 1) and validated within the Einstein Lupus Cohort (Cohort 2)...
February 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27527090/evaluation-of-magnetic-resonance-imaging-abnormalities-in-juvenile-onset-neuropsychiatric-systemic-lupus-erythematosus
#19
M Al-Obaidi, D Saunders, S Brown, L Ramsden, N Martin, E Moraitis, C A Pilkington, P A Brogan, D Eleftheriou
The aim of this study was to describe the abnormalities identified with conventional MRI in children with neuropsychiatric systemic lupus erythematosus (NPSLE). This was single-centre (Great Ormond Street Hospital, London) retrospective case series of patients with juvenile NPSLE seen in 2003-2013. Brain MR images of the first episode of active NPSLE were reviewed. All patients fulfilled the 1999 ACR case definitions for NPSLE syndromes. Presenting neuropsychiatric manifestations, immunological findings and treatment are reported...
October 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27515671/the-use-of-cyclosporine-a-in-rheumatology-a-2016-comprehensive-review
#20
Cecilia Beatrice Chighizola, Voon H Ong, Pier Luigi Meroni
Cyclosporine A, an inhibitor of calcineurin, exerts an immunomodulator action interfering with T cell activation. Even though novel therapeutic tools have emerged, CyA still represents a suitable option in several clinical rheumatology settings. This is the case of refractory nephritis and cytopenias associated with systemic lupus erythematosus. Furthermore, CyA is a valued therapeutic tool in the management of uveitis and thrombophlebitis in course of Behçet's disease. Topical CyA has been proven to be beneficial in the dry eye of Sjogren's syndrome, whereas oral treatment with CyA can be considered for the severe complications of adult onset Still's disease...
August 11, 2016: Clinical Reviews in Allergy & Immunology
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