BERNADETE DE LOURDES LIPHAUS

(Fonte: Lattes)
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Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina

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search.filters.applied.f.dateIssued: 2012 × Indexador: MEDLINE × Tipo de acesso: restrictedAccess ×

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  • article 29 Citação(ões) na Scopus
    Organ-specific autoantibodies and autoimmune diseases in juvenile systemic lupus erythematosus and juvenile dermatomyositis patients
    (2012) AIKAWA, N. E.; JESUS, A. A.; LIPHAUS, B. L.; SILVA, C. A.; CARNEIRO-SAMPAIO, M.; VIANA, V. S. T.; SALLUM, A. M. E.
    Objectives To our knowledge, no study assessed simultaneously a variety of organ-specific autoantibodies and the prevalence of organ-specific autoimmune diseases in juvenile systemic lupus erythematosus (ISLE) and juvenile dermatomyositis (JDM). Therefore, the purpose of this study was to evaluate organ-specific autoantibodies and autoimmune diseases in JSLE and JDM patients. Methods Forty-one JSLE and 41 JDM patients were investigated for autoantibodies associated with autoimmune hepatitis, primary biliary cirrhosis, type I diabetes mellitus (TIDM, autoimmune thyroiditis (AT), autoimmune gastritis and coeliac disease (CD). Patients with positive antibodies were investigated for the respective organ-specific autoimmune diseases. Results Mean age at diagnosis was higher in ISLE compared to JDM patients (10.3 +/- 3.4 vs. 7.3 +/- 3.1 years, p=0.0001). The frequencies of organ-specific autoantibodies were similar in JSLE and JDM patients (p>0.05). Of note, a high prevalence of TIDM and AT autoantibodies was observed in both groups (20% vs. 15%, p=0.77 and 24% vs. 15%, p=0.41; respectively). Higher frequencies of ANA (93% vs. 59%, p=0.0006), anti-dsDNA (61% vs. 2%, p<0.0001), anti-Ro, anti-Sm, anti-RNP, anti-La and IgG-aCL were observed in JSLE (p<0.05). Organ-specific autoimmune diseases were evidenced only in ISLE patients (24% vs. 0%, p=0.13). Two ISLE patients had TIDM associated with Hashimoto thyroiditis and another had subclinical thyroiditis. Another JSLE patient had CD diagnosis based on iron deficiency anaemia, anti-endomysial antibody, duodenal biopsy compatible to CD and response to a gluten-free diet. Conclusions Organ-specific diseases were observed solely in ISLE patients and required specific therapy. The presence of these antibodies recommends the evaluation of organ-specific diseases and a rigorous follow-up.
  • conferenceObject
    Low Gene Copy Number for C4, C4A and C4B Is a Strong Risk Factor for Developing Systemic Lupus Erythematosus in Childhood
    (2012) ANDRADE, Luis Eduardo C.; PEREIRA, Kaline M. C.; FARIA, Atila G. A.; LIPHAUS, Bernadete; JESUS, Adriana A.; SILVA, Clovis; CARNEIRO-SAMPAIO, Magda
    Background/Purpose: C4 is an important component of the Complement system and plays an essential role in the activation cascade of the classical Complement pathway. Complete C4 deficiency is among the strongest genetic risk factors for systemic lupus erythematosus (SLE). There are two C4 circulating isoforms (C4A and C4B) encoded by C4A and C4B genes, respectively, that differ by only five nucleotides. C4A protein is involved in the clearance of immune complex and apoptotic debris while C4B protein is relevant in the opsonization of microbes. C4A and C4B genes are located at a gene cassette within the MHC class III region and depict gene copy-number variation (CNV). The number of C4A copies may be related to the susceptibility to SLE. This study aimed to investigate the impact of the C4A and C4B gene CNV on juvenile SLE. Methods: We evaluated 90 children and 170 adults with SLE (meeting SLE ACR criteria) sequentially retrieved from the rheumatology outpatient clinic. Two hundred healthy individuals (HI) without evidence of auto-immune diseases were retrieved among blood bank donors. Peripheral blood leukocyte DNA was amplified by quantitative real-time PCR (qPCR) with primers for C4 gene and sequence specific TaqMan® probes for C4A (5FAM-ACCCCTGTCCAGTGTTAG-MGB 3) and C4B (5FAM-ACCTCTCTCCAGTGATAC-MGB 3). Gene copy number (GCN) was determined by the delta-delta cycle threshold (DDCT) method. Results: Children with SLE had lower GCN of total C4 (mean total C4=3.1; 95% CI=2.8–3.4), C4A (mean C4A=1.7; 95% CI=1.5–1.9) and C4B (mean C4B=1.5; 95% CI=1.3–1.6) than HI (C4=4.3 with 95% CI=4.1–4.5, p<0.001; C4A =2.3 with 95% CI=2.2–2.5, p<0.001; C4B=2.0 with 95% CI=1.8–2.1; p<0.001). The frequency of SLE children with total C4 low GCN (<4 copies) was significantly higher than in HI (SLE=59% versus HI=28%; OR=3.68; 95% CI=2.19–6.20; p<0.001). The same was observed for C4A low GCN (2