Haptoglobin study in myasthenia gravis

Objective: A cross-sectional study of haptoglobin (Hp) in myasthenia gravis (MG) was designed, with, the objective to identify its values and correlate them with different disease status. Method: 46 patients were enrolled in the study, all having disease severity established according to the quantitative myasthenia gravis strength scores (QMGSS). Based on the functional scale determined by Myasthenia Gravis Foundation of America (MGFA) recommendations, patients were classified as having: complete stable remission (CSR; n=10); minimal manifestations-O (MMO; n=6), minimal manifestations-1 (MM1; n=4); pharmacological remission (PR; n=6). Two other groups participated: thymomatous patients (T; n=10) and patients without imunosuppression or thymectomy, until the assessment for Hp (WIT; n=10). Hp dosage was done by immunonephelometry, blindly to clinical data. Student's t-test, Anova test and linear regression were employed for statistical analyses. Results: Statistically significant differences occurred between CSR+MMOxWIT groups (86.62x157.57, p < 0.001) and PR+MM1xWIT groups (73.93x157.57, p < 0.001). Linear regression showed correlation between Hp levels and QMGSS (r=0.759, p < 0.001). Conclusion: Our results suggest that Hp may be useful in clinical practice as a disease severity marker in MG.662A22923

Determination of beta(S) haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)beta(S) haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.343421424Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)CNPq [409766/2006-2]FAPESP [2008/57441-0

Haptoglobin genotypes in Chagas' disease

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Objectives: To investigate the existence of an association between haptoglobin (Hp) genotypes and the severity of heart complications in Chagas' disease. Design and methods: Hp genotyping was performed by PCR in 107 Brazilian patients sub-classified in asymptomatic, with mild heart disease and with severe heart disease. Results: Multiple logistic regression (R(2) = 24%) indicated that patients with the Hp1-1 genotype have lower probability of developing the severe heart complications. Conclusion: The Hp polymorphism may influence the clinical evolution of Chagas' disease. (C) 2009 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.433314316Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)FAPESP [08/01690-2

Simple fluorescent PCR method for detection of large deletions in the beta-globin gene cluster

We developed a semi-automated approach to detect large deletions in the beta-globin gene cluster, based on the quantitative differences in the amplifications of samples by a fluorescent PCR. With this strategy, we were able to detect the presence of HPFH-2 in an African-Brazilian subject, confirmed by sequencing analysis. Differently from other PCR strategies, GAP-PCR for example, it has the potential to identify new deletions. (C) 2003 Wiley-Liss, Inc.72322522

Haptoglobin polymorphism and diabetic nephropathy in Brazilian diabetic patients

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Diabetic nephropathy (DN) has an important impact on morbidity/mortality in diabetic patients. Genetic factors are probably involved in the development of this microvascular complication. Haptoglobin (Hp) is a genetically polymorphic glycoprotein that forms stable complexes with plasma-free hemoglobin (Hb) providing protection against heme-induced oxidative stress and kidney damage. The aim of the present study was to investigate the existence of association between the Hp genotypes and the presence of DN in Brazilian diabetic patients. The Hp genotypes of 265 patients, 95 type 1 diabetes mellitus (DM1) sufferers with at least 10 years of disease and 170 type 2 diabetes mellitus (DM2) sufferers with at least 5 years of disease were determined by allele-specific PCR; both groups included patients with and without DN. Hp allele and genotype frequencies were compared among the patient groups and between the patient groups and a control group of 142 healthy individuals. No association between Hp genotypes and DN could be demonstrated. Additionally, urinary albumin excretion values and the presence or absence of systemic arterial hypertension (SAH) were compared among the patient groups. Again, no significant correlations were found. The Hp polymorphism could not be associated with DN in the population studied here.364437441Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)FAPESP [05/02 907-7

Mild clinical expression of S-beta thalassemia in a Brazilian patient with the beta(+) IVS-I-6 (T -> C) mutation

We report on an eight-year-old Brazilian girl with S-beta(+) thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of beta-globin gene showed her to be heterozygous for the IVS-I-6 (T-->C) mutation. This beta(+) thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C-->T polymorphism at codon 2. In combination with the beta(S) gene, this mutation results in very mild sickle cell disease symptoms.21443143

Hb Osu-Christiansborg [beta 52(D3)Asp -> Asn): A de novo mutation in Brazil

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Haptoglobin polymorphism and diabetic retinopathy in Brazilian patients

Haptoglobin (Hp) is an acute phase protein with antioxidant and immunomodulatory properties. Three main genotypes/phenotypes (Hp1-1, Hp2-1 and Hp2-2) show distinct efficiencies in these activities and have been associated with susceptibility and outcome in several diseases, including diabetes mellitus (DM). It has been suggested that Hp polymorphism may influence the development of retinopathy, an important microvascular complication in DM. In order to investigate this association in a Brazilian population, we determined the Hp genotypes of 317 diabetic patients with at least 10 years of disease. The patients were classified as DM-type 1 and 2, with and without diabetic retinopathy (DR). The Hp genotype frequencies of the different patient groups and of a control group consisting of 142 healthy individuals who had previously been studied were compared. No significant differences were observed for the three Hp genotypes. Hemoglobin Alc levels, systolic blood pressure (SBP), diastolic blood pressure (DBP) and duration of diabetes, which are potential risk factors for DR, were also compared. Again no significant differences were observed for the three Hp genotypes. Thus, we conclude that this polymorphism is not associated with the presence of DR in the Brazilian population studied here. (c) 2007 Elsevier Ireland Ltd. All rights reserved.77338538