Background Infections are an important cause of morbidity and mortality in juvenile systemic lupus erythematosus (JSLE). Invasive aspergillosis (IA) is a fungal infection caused by Aspergillus spp., usually affects the pulmonary tract, but can involve any organ or system. Association between IA and SLE was seldom described in adults and to our knowledge only two cases were reported in JSLE patients, including one from our Pediatric Rheumatology Group (1). However, the prevalence of IA in a large population of JSLE patients from a tertiary Pediatric Hospital was not reported. Objectives To evaluate the prevalence and report the demographic data, clinical findings, treatment regimens and outcome of JSLE patients at IA diagnosis. Methods From January 1983 to June 2011, 5,604 patients were followed at the Pediatric Rheumatology Unit from our University Hospital and 283 (5%) of them met the ACR classification criteria for SLE. IA was classified in “proven” and “probable” as previously defined. Proven IA demands isolation of Aspergillus spp. in tissue and probable IA requires isolation of Aspergillus spp. in direct test (culture, cytology or microscopy) or indirect test (detection of antigen or cell-wall component) (2). Results Six (2.1%) of our JSLE patients had IA, and were the only of the total population (n=5,604; 0.1%) followed at our service with this invasive fungal disease. One of them was previously reported (1) and five will be reported herein. Proven IA was observed in four cases and probable IA in one case. Four of them were of the female gender. The median age at JSLE diagnosis was 12 years (8-16) and the median interval between diagnosis of JSLE and IA was 6 months (1-38). All had pulmonary involvement and three of them had systemic involvement. The median SLEDAI-2K was 19 (7-22). Diagnosis of IA was performed by isolation of Aspergillus spp., two in bronchoalveolar lavage culture and by way of autopsy in the others. All of them were treated with corticosteroids and immunosuppressive drugs at IA diagnosis (azathioprine and intravenous cyclophosphamide). They all required pediatric intensive care unit with mechanical ventilation and antifungal therapy (fluconazole, amphotericin B and/or voriconazole), nonetheless none of them survived. Conclusions IA is a rare and severe opportunistic infection that may mimic JSLE manifestations in patients with active disease receiving immunosuppressive agents. This study reinforces the importance of early diagnosis and antifungal therapy, especially in critically ill patients. References Canova EG, Rosa DC, Vallada MG, et al. Invasive aspergillosis in juvenile systemic lupus erythematosus. A clinico-pathologic case. Clin Exp Rheumatol 2002; 20: 736. De Pauw B, Walsh TJ, Donnelly JP, et al. Revised definitions of invasive fungal disease from the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) Consensus Group. Clin Infe...
ABSTRACT. Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population. The duplication was found in 12 members of the family. In two patients with CMT1A symptoms, the duplication was not detected, and one asymptomatic subject showed the duplication. D17S2230, D17S9B, D17S2220, D17S2227, D17S9A, and D17S4A markers showed the highest heterozygosity rates, and D17S2228 and D17S2224 markers were the least informative in our analysis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.