Pregnancy Control in Patients with Systemic Lupus Erythematosus and Antiphospholipid Syndrome. Part 1: Infertility, Ovarian Preservation and Preconception Assessment. Consensus Document of the Spanish Society of Gynaecology and Obstetrics (SEGO), the Spanish Society of Internal Medicine (SEMI) and the Spanish Society of Rheumatology (SER)

Objetivo: El embarazo y el puerperio se consideran una situación de riesgo en mujeres con lupus eritematoso sistémico (LES) y síndrome antifosfolípido (SAF). Es esencial que especialistas en enfermedades autoinmunes y en embarazo de alto riesgo intervengan en su seguimiento de forma coordinada. La Sociedad Española de Ginecología y Obstetricia, la Sociedad Española de Medicina Interna, y la Sociedad Española de Reumatología han constituido un grupo de trabajo paritario para la elaboración de 3 documentos de consenso. Métodos: Las fases del trabajo fueron: distribución del trabajo en grupos correspondientes a los 3 períodos relacionados con la gestación, identificación de áreas clave, revisión de la literatura y formulación de recomendaciones. Resultados: En este primer documento se incluyen las primeras 48 recomendaciones que tratan aspectos relacionados con la infertilidad, la necesidad y los tratamientos de preservación gonadal y la valoración preconcepcional. Conclusiones: Estas recomendaciones multidisciplinares se consideran herramientas en la toma de decisiones para los clínicos involucrados en la asistencia a pacientes con LES/SAF durante el embarazo

Systemic autoimmune diseases and work outcomes in Brazil: a scoping review

OBJECTIVE To review articles that assessed work-related outcomes such as workability, work productivity, presenteeism, absenteeism, sick leave, return to work, and employment status of Brazilian patients with rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Sjögren’s syndrome, and systemic autoimmune myopathies. METHODS This study was conducted in Medline databases (PubMed), SciELO, and Lilacs through a combination of descriptors of interest. Studies published until December 2020 were considered in the search strategy. RESULTS Eight out of 90 articles met the eligibility criteria and were included in this review. The studies are highly heterogeneous. Most of them are cross-sectional, and all of them address rheumatoid arthritis or systemic lupus erythematosus. A common denominator among these studies is the high proportion of patients outside the labor market. CONCLUSIONS In general, the studies show unfavorable labor outcomes and impaired participation in the Brazilian workforce among the samples of patients assessed. There is a need to better understand several topics about Brazilian patients with systemic autoimmune diseases and their work context, as well as to conduct studies focusing on rarer diseases and on the themes of return and reintegration to work

Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes

BACKGROUND - : Cardiovascular disease (CVD) reflects a highly coordinated complex of traits. Although genome-wide association studies have reported numerous single nucleotide polymorphisms (SNPs) to be associated with CVD, the role of most of these variants in disease processes remains unknown. METHODS AND RESULTS - : We built a CVD network using 1512 SNPs associated with 21 CVD traits in genome-wide association studies (at P≤5×10) and cross-linked different traits by virtue of their shared SNP associations. We then explored whole blood gene expression in relation to these SNPs in 5257 participants in the Framingham Heart Study. At a false discovery rate <0.05, we identified 370 cis-expression quantitative trait loci (eQTLs; SNPs associated with altered expression of nearby genes) and 44 trans-eQTLs (SNPs associated with altered expression of remote genes). The eQTL network revealed 13 CVD-related modules. Searching for association of eQTL genes with CVD risk factors (lipids, blood pressure, fasting blood glucose, and body mass index) in the same individuals, we found examples in which the expression of eQTL genes was significantly associated with these CVD phenotypes. In addition, mediation tests suggested that a subset of SNPs previously associated with CVD phenotypes in genome-wide association studies may exert their function by altering expression of eQTL genes (eg, LDLR and PCSK7), which in turn may promote interindividual variation in phenotypes. CONCLUSIONS - : Using a network approach to analyze CVD traits, we identified complex networks of SNP-phenotype and SNP-transcript connections. Integrating the CVD network with phenotypic data, we identified biological pathways that may provide insights into potential drug targets for treatment or prevention of CVD

Is Quality of Life of Lupus Better than Systemic Sclerosis?

Background Patients with systemic lupus erythematosus (SLE) and systemic sclerosis (SSc), have to cope with lifelong disease manifestation and impaired physical function. Limited physical activities along the disease will affect their quality of life (QoL). The QoL is recognized as an important factor of treatment strategy. This study aims to compare the quality of life of patient with SLE and SSc. Method This study was a cross-sectional study and conducted in rheumatology outpatient clinic of Hasan Sadikin Hospital Bandung, Indonesia from January 2015 until March 2017. The respondents were patients diagnosed as SLE and SSc who regularly visit rheumatology outpatient clinic. Respondents were asked to complete the Short Form-36 (SF-36). Baseline characteristics, including age, gender, and duration of disease, were collected during the visit. The Mann-Whitney U test was used to analyze the comparison.&nbsp; Result There were 242 patients who completed the SF-36 questionnaires, consisted of 193 SLE patients and 49 SSc patients. SLE patients were slightly younger and had a longer duration of disease compared to SSc. The SF-36 Physical Component Summary (PCS) score was significantly higher on SLE patients (40.6 vs 40.4, p = 0.0001), but the mean of Mental Component Summary (MCS) score was similar among both diseases. Conclusion Physical functioning aspect on quality of life is better in SLE patients compared to SSc patients.&nbsp; However, mental aspect for both diseases are relatively similar. Keywords : systemic lupus erythematosus, systemic sclerosis, quality of life

Profilaxia secundară a lupusului eritematos sistemic

The lecture treats, on a contemporary scientific level, the problems of incidence, pathophysiology and causes of lupus erythematosus systemic, its clinical picture with different variants of development, diagnosis – including the differential one, its treatment in exacerbations by means of single as well as a complex of corticosteroid, cytostatic, biologic, etc. drugs according to immunologic activity and involvement of inner organs. The problems of exacerbation prevention, an active follow – up of patients with lupus erythematosus systemic and prognosis are discussed.Articolul tratează, la un nivel ştiinţific contemporan, problemele incidenţei, cauzelor, patogenezei, tabloului clinic cu variante de manifestare, diagnosticarea, inclusiv diagnosticul diferenţial, tratarea acutizărilor atât cu medicamente individuale, cât şi cu complexe de preparate corticosteroide, citostatice, biologice etc., în funcţie de gradul de activitate imunologică şi de afectare a organelor interne. Sunt, de asemenea, abordate problemele profi laxiei acutizărilor, urmăririi dispensarizate active a cazurilor de lupus eritematos sistemic, dar şi prognosticul

Systemic lupus erythematosus and bullous pemphigoid with dramatic response to dapsone

Objective: Unusual clinical course Background: Bullous pemphigoid is an autoimmune blistering disease, with relapses, isolated or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Joint manifestations rapidly respond to small or moderate doses of corticosteroids, whereas skin manifestations usually respond to antimalarial drugs. Case Report: We describe the clinical case of an 11-year-old girl with SLE. She showed bullous skin lesions with arthralgia, mild proteinuria, resolved after steroid treatment. At the tapering of her prednisone dose, the patient had new skin lesions requiring an increased dose of prednisone. She started dapsone at the dosage of 1 mg/kg/day, maintaining low dose prednisone; this treatment was successfully followed by the dramatic disappearance of skin lesions and limb pain. Conclusions: Bullous skin lesions can represent the first clinical presentation of pediatric SLE and could influence the treatment and the outcome of these patients. This case showed an atypical course as both skin manifestations and arthritis promptly and persistently resolved with dapsone without the use of high-dose glucocorticoids. Only a few cases of patients with SLE associated with bullous pemphigoid have been reported in the literature, and very few in the pediatric population

Uptitrating mycophenolate mofetil therapy in a patient with lupus cerebritis doesn’t increase risk of infection compared to cyclophosphamide

A clinical decision report appraising Appel GB, Contreras G, Dooley MA, et al. Mycophenolate mofetil versus cyclophosphamide for induction treatment of lupus nephritis. J Am Soc Nephrol. 2009;20(5):1103-1112. https://doi.org/10.1681/ASN.2008101028 for a patient with neuropsychiatric lupus

Effects of rituximab-based B-cell depletion therapy on skin manifestations of lupus erythematosus--report of 17 cases and review of the literature

Cutaneous manifestations occur frequently in systemic lupus erythematosus (SLE) and are pathognomonic in subacute-cutaneous lupus erythematosus (SCLE) and chronic cutaneous lupus erythematosus (CCLE). Although B-cell depletion therapy (BCDT) has demonstrated efficacy in SLE with visceral involvement, its usefulness for patients with predominant skin manifestations has not been fully established. In this single-centre, retrospective study 14 consecutive SLE, one CCLE and two SCLE patients with recalcitrant skin involvement were treated with 2 × rituximab 1 g, and 1 × cyclophosphamide 750 mg. Six months after BCDT, nine of 17 (53%) patients were in complete (CR) or partial remission (PR). Relapses occurred in 12 patients (71%) at a mean time of 10 ± 1.8 months after BCDT. A second cycle of BCDT achieved a more sustained remission in seven of nine patients (78%) lasting for a mean time of 18.4 ± 2.7 months. Minor adverse events were experienced by three patients. Mean follow-up was 30 months. Our own results and the literature review demonstrate that BCDT based on rituximab is well tolerated and may be effective for cutaneous lesions of lupus erythematosus. Randomized controlled trials are necessary to further evaluate the value of BCDT for this group of patients

Undifferentiated connective tissue disease presenting with prevalent interstitial lung disease: Case report and review of literature

Undifferentiated connective tissue diseases (UCTDs) are clinical entities characterised by signs and symptoms suggestive of a systemic autoimmune disease, which do not fulfil the diagnostic criteria for a defined connective tissue disease. Lung involvement can complicate the course and management of the disease, often determining a worse outcome. Respiratory dysfunction as the first clinical manifestation has seldom been reported

Hemichorea-hemiballismus as a rare presentation of non-ketotic hyperglycemia: a case report

Hemichorea-hemiballismus is a hyperkinetic movement disorder on one side of the body resulting from involvement of the contralateral basal ganglia and striatum mainly. A 50-year-old female presented with a 5-days history of choreiform movements affecting the left upper and lower limb along with hemiface. Her plasma glucose was 576 mgl/dl and her urinary ketones were negative suggesting non-ketotic hyperglycemia. Computed tomography revealed hyper-density in right caudate and putamen consistent with diabetic striatopathy. Non-ketotic hyperglycemia is a rare cause of hemichorea-hemiballismus syndrome. Hemichorea-hemiballismus can be an unusual and rare presentation of diabetic elderly population especially females. Early diagnosis and treatment of hyperglycemia yields an excellent prognosis