Simone Appenzeller, Brazil
University of Campinas RheumatologyPresenter of 2 Presentations
SYSTEMIC LUPUS ERYTHEMATOSUS AND CRYPTOCOCCAL INFECTION IN THE CENTRAL NERVOUS SYSTEM
Abstract
Background and Aims
Central nervous system (CNS) is an uncommon affected site by cryptococcal infection (CI) in patients with systemic lupus erythematous (SLE), and it can be very difficult to diagnose, especially in patients receiving immunosuppressive therapy, due to the insidious onset and non-specific symptoms. In addition, mortality can be high even with proper treatment.
Methods
The patients reported here were followed at the Rheumatology division of the Hospital of Clinics of the University of Campinas and we retrospectively reviewed their charts and magnetic resonance imaging (MRI) findings.
Results
We report two patients with SLE that presented at the emergency with acute neurologic symptoms. One presented headache, altered visual acuity, photophobia and mental confusion and the other progressive left-sided hemiparesis. In both no SLE disease activity was observed. MRI showed multiple corticosubcortical lesions with contrast enhancement, restricted diffusion, perilesional edema and small hemorrhagic foci. Serum Cryptococcus neoformans capsular antigen test, by the latex agglutination method, was positive in both cases. Patients were treated with amphotericin B with improvement of symptoms
Conclusions
Central nervous system infection by cryptococcus, in patients with systemic lupus erythematosus, should be suspected in cases of unspecific neurological symptoms such as headache and fever. MRI evaluation should be performed to better characterize the sites of lesion, and, depending of them (meningeal enhancement, ventricular dilatation and even nodular enhancement) this differential diagnosis must always be kept in mind especially in patients receiving steroid treatment.
GENETIC ANCESTRY AND ITS CONTRIBUTION TO COMPLEX TRAITS IN CHILDHOOD-ONSET SYSTEMIC LUPUS ERYTHEMATOSUS
Abstract
Background and Aims
Based on the hypothesis that ancestry influences the susceptibility and development of lupus, this study has evaluated the role of admixture degree in clinical manifestations of childhood-onset systemic lupus erythematosus (cSLE) in a tri-hybrid population.
Methods
The genome-wide human Cytoscan HD array was applied to genotype 2.6K markers in 107 cSLE Brazilian patients and 110 healthy controls. Quality control of the chip was carried out using Chromosome Analysis Suite software. A panel of 345 ancestry informative markers (AIMs) based on SNP data from Cytoscan HD array was used to infer the proportion of European, African and Amerindian ancestries of each cSLE and control subjects. The individual ancestral composition based on the SNP-AIMs set was estimated using Admixture. Statistical analyses to associate the genetic ancestry with different clinical traits were performed using the computing environment R.
Results
Ancestral composition analysis revealed that the main component of patients and control group was European (66.9% and 80.2%), followed by African (21.6% and 11.5%) and Amerindian (11.5% and 8.4%). Comparisons showed differences in European (p = 4.7 x 10-11, 95% CI -0.18− -0.10), African (p = 4.1 x 10-9, 95% CI 0.05 − 0.12) and Amerindian (p = 1.9 x 10-6, 95% CI -0.03 − 0.06) ancestries between cSLE and control groups. A higher proportion of Amerindian ancestry in cSLE was associated to development of photosensitivity (p = 0.035) and hematologic alterations (p = 0.025).
Conclusions
We show novel associations to clinical manifestations in cSLE according to the ancestry profile.