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Browsing by Subject "Systemic Lupus Erythematosus"
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Item Gene expression signatures of target tissues in type 1 diabetes, lupus erythematosus, multiple sclerosis, and rheumatoid arthritis(American Association for the Advancement of Science, 2021-01-06) Szymczak, F.; Colli, M.L.; Mamula, M.J.; Evans-Molina, C.; Eizirik, D.L.; Medicine, School of MedicineAutoimmune diseases are typically studied with a focus on the immune system, and less attention is paid to responses of target tissues exposed to the immune assault. We presently evaluated, based on available RNA sequencing data, whether inflammation induces similar molecular signatures at the target tissues in type 1 diabetes, systemic lupus erythematosus, multiple sclerosis, and rheumatoid arthritis. We identified confluent signatures, many related to interferon signaling, indicating pathways that may be targeted for therapy, and observed a high (>80%) expression of candidate genes for the different diseases at the target tissue level. These observations suggest that future research on autoimmune diseases should focus on both the immune system and the target tissues, and on their dialog. Discovering similar disease-specific signatures may allow the identification of key pathways that could be targeted for therapy, including the repurposing of drugs already in clinical use for other diseases.Item Leukoencephalopathy and cerebral edema as the presenting manifestations of SLE in an ANA-negative adolescent female: a case report and review of literature(Springer Nature, 2020-07-13) Theisen, Alexandra; Bose, Paroma; Knight, Christina; Oliver, Melissa; Pediatrics, School of MedicineBackground: Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical manifestations involving multiple organ systems. Neuropsychiatric manifestations of SLE have been associated with increased morbidity and mortality, thus it is important to recognize and diagnose the disease entity and treat early. When neuropsychiatric symptoms are involved, typically there are many other systemic features to aid in the diagnosis of SLE. Many autoantibodies have been discovered and are used to help diagnose SLE. The antibody present in most cases of pediatric SLE, as well as in many other rheumatic diseases, is the nonspecific antinuclear antibody (ANA). The ANA is a commonly used screening tool by primary care physicians when evaluating a patient with a possible rheumatic disorder. However, a small subset of SLE patients, 1-5%, present with a negative ANA, and it is important to keep SLE on the differential diagnosis in specific instances when a thorough infectious, metabolic and neurological workup has been completed and proven to be inconclusive. Case presentation: This case involves a Hispanic adolescent female with a negative ANA who presented with diffuse cerebral edema secondary to leukoencephalopathy due to SLE with central nervous system involvement. She was normotensive on presentation and relatively symptom free aside from headache. She had an extensive workup while inpatient involving metabolic, infectious disease, rheumatology, and neurology prior to obtaining the diagnosis of SLE. She was treated with cyclophosphamide and rituximab with appropriate disease response. Conclusions: A review of the literature revealed 12 cases with SLE presenting with or developing diffuse cerebral edema and/or leukoencephalopathy. Our patient's case differs in that she was also ANA negative despite other autoantibody positivity. While she did have low complements and transient leukopenia, she did not present with other signs of organ involvement, which made the diagnosis of SLE with neuropsychiatric involvement quite challenging. We discuss the importance of keeping SLE on the differential diagnosis despite a negative ANA in complex cases after thorough workup has been unrevealing, and to consider initial screening with not only the ANA but also dsDNA and complements to avoid missed diagnoses.Item Pre- and post-conception planning in autoimmune disorders(2020-03) Kumar, Nimisha; Aksu, Eric; Gensel, Annie; Burger, Taylor; Pease, KenseyBackground: Autoimmune diseases are often multisystem, requiring many specialists. However, there are no clear recommendations for many of these disorders for planning pregnancy and preventing exacerbations. Intervention: Little time is devoted to patient counseling about contraception or care antepartum, intrapartum, and postpartum. Contraception and many first-line interventions can have varying effects in different diseases, which can be further complicated by multiple diagnoses. Many of these disorders also can have postpartum complications, making follow-up essential. Results:Systemic lupus erythematosus (SLE) is known to cause exacerbations during pregnancy and has serious adverse outcomes for both mother and baby. Active disease is associated with higher rates of preterm birth, pre-eclampsia, thromboses, fetal loss, and neonatal lupus. Patients are at increased risk of these complications with a history of lupus nephritis, cessation of hydroxychloroquine, and primigravidity. Multiple sclerosis (MS) has lower rates of relapse during pregnancy, but higher rates in the first postpartum year. This has been attributed to the rapid increase in progesterone during pregnancy improving symptoms, while the rapid decrease after pregnancy promotes relapses. Additionally, neonatal morbidity does not increase as a result of MS. For other autoimmune diseases such as Sjögren's Syndrome or Grave’s Disease, the clinical picture may be complicated by the physiology of pregnancy, but is unclear whether pregnancy exacerbates the autoimmune component of the disease. Conclusions: Pregnancy and contraception could improve or worsen symptoms in autoimmune diseases, even up to a year postpartum. There is a significant gap in practice guidelines regarding contraception and pregnancy despite many diseases’ onset during childbearing years. Pregnancy and contraception counseling should be part of initial conversations at diagnosis to prepare women.