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Immunology of Scleroderma
Published in Richard K. Burt, Alberto M. Marmont, Stem Cell Therapy for Autoimmune Disease, 2019
Anti-RNAP I and III antibodies are associated with female Caucasian patients with dcSSc, particularly with a high prevalence of internal organ involvement and poor prognosis.169,172,194,195 Anti-RNAP I antibodies have also been identifled in 78% of patients with rheumatoid arthritis.196 Antibodies to RNAP III have been detected in 45% of sera from SSc patients with dcSSc and only 6% of patients with lcSSc, and in some instances occur more frequently than antibodies to Scl-70.195 Antibodies to RNAP II recognize a CTD heptapeptide repeat that contains a high content of charged residues.173 Antibodies to RNAP II occur in SSc but are not disease specific and can be identified in mixed connective tissue disease and SLE.170,197 Anti-RNAP II antibodies are often accompanied by anti-Ku and anti-nRNP antibodies.197
Rheumatology
Published in Timothy G Barrett, Anthony D Lander, Vin Diwakar, A Paediatric Vade-Mecum, 2002
Timothy G Barrett, Anthony D Lander, Vin Diwakar
ANA are not specific or sensitive for rheumatic disease. Titres (usually low) are found in 5% of normal children, and more frequently in those with transient viral illnesses. However, ANA of various titres are present in 30–40% of patients with JIA, predominantly in individuals with oligoarthritis. They are also found in most other childhood rheumatic diseases, including SLE, scleroderma (anti-Scl-70, anti-SS-A, anti-SS-B and anti-snRNP), mixed connective tissue disease (anti-nRNP) and dermatomyositis.
Progress towards precision medicine for lupus: the role of genetic biomarkers
Published in Expert Review of Precision Medicine and Drug Development, 2018
Juan-Manuel Anaya, Kelly J. Leon, Manuel Rojas, Yhojan Rodriguez, Yovana Pacheco, Yeny Acosta-Ampudia, Diana M. Monsalve, Carolina Ramirez-Santana
Correspondingly, studies focusing on Latin American patients have associated certain polymorphisms with specific disease behavior. Thus HLA-DRB1*08 allele has been associated with augmented disease activity and identified as a predictor of damage accrual [162], and the alleles HLA-DRB1*16 and HLA-DRB1*04 have been associated with cutaneous discoid lupus erythematosus [166]. Regarding non-HLA genes, PTPN22 variants were associated with anti-nRNP positivity [167], C1QA SNPs with photosensitivity and lack of nephritis subphenotype [168], PDCD1 haplotypes with anti-dsDNA positivity [169], TNFSF4 markers with age of onset, antibody production, and renal disorder [123,170] and the variant rs1876453 on CR2 with fulfillment of multiple SLE criteria [171].
Circular RNAs hsa_circ_0000479 in peripheral blood mononuclear cells as novel biomarkers for systemic lupus erythematosus
Published in Autoimmunity, 2020
Qing Luo, Lu Zhang, Le Fang, Biqi Fu, Yang Guo, Zikun Huang, Junming Li
In addition, we investigated the relationship between these confirmed circRNAs and anti-dsDNA, anti-Sm, anti-Ro52, anti-nRNP/Sm, anti-rRNP, anti-nucleosome, anti-SSA, and anti-SSB. We found that the expression level of hsa_circ_0082688 was significantly increased in anti-dsDNA positive SLE patients (p = .035; Figure 4(F)). The expression level of hsa_circ_0082689 was significantly increased in anti-dsDNA positive SLE patients (p = .023; Figure 4(G)) and anti-nuclesome positive SLE patients (p = .046; Figure 4(H)), respectively.
Covid-19 infection-induced neuromyelitis optica: a case report
Published in International Journal of Neuroscience, 2022
Melike Batum, Aysin Kisabay Ak, Hatice Mavioğlu
History of a 50-year-old woman presenting to the emergency service with weakness in both legs, urinary retention, high fever, and coughing revealed that she had numbness beginning from toe tips and spreading to back one day before presentation to the emergency service and then weakness on her lower limb. Neurological examination was consistent with paraplegia, areflexia in the lower limbs, bilaterally unresponsive plantar reflex, sensory deficit indicating the level of T4, and urinary retention (with Foley’s catheter). Vital signs were as temperature of 38.4 °C, blood pressure of 110/60 mmHg, and respiratory rate of 14 per minute. The patient did not have history of known chronic disease or smoking. Spinal magnetic resonance imaging (MRI) revealed expensive long segment and centrally located demyelinating lesion extending from the cervical cord (at the level of C3) to the conus. Cerebral MRI investigation was normal (Figure 1). Thoracic computerized tomography (CT) taken upon signs of high fever and coughing revealed consolidation areas located on the lower segments of bilateral lungs and ground glass density, air bronchograms, and peribronchial thickening surrounding these areas (Figure 2). The patient was admitted to the hospital because of considering the association of neuromyelitis optica spectrum disorders (NMOSD) and Covid-19 pneumonia. The markers of anti-cytomegalovirus immune globulin M (anti-CMV IgM), Brucella agglutination, Epstein-Barr virus (EBV) VCA IgM, anti-hepatitis A virus (HAV) IgM, anti-hepatitis B virus (anti-HBc) IgM, and anti-human immunodeficiency virus (HIV) IgM ordered to investigate etiology of NMODS were all found to be negative. Autoimmune markers (rheumatoid factor, anti-nuclear antibody, anti-neutrophil cytoplasmic antibodies, anti-mitochondrial antibody, anti-smooth muscle antibody, Anti-Ro, Anti-La, Anti-ds DNA, anti-nRNP, and anti-histon antibody) were negative. In the cerebrospinal fluid (CSF) level of microprotein was 159 mg/dL, oligoclonal band was negative, immunoglobulin index was 1.2, aquaporin-4 immunoglobulin G (AQP4-IgG) was positive, and anti-MOG was negative.