Levels of high-density lipoprotein cholesterol (HDL-C) among children with steady-state sickle cell disease

<p>Abstract</p> <p>Background</p> <p>The search for sickle cell disease (SCD) prognosis biomarkers is a challenge. These markers identification can help to establish further therapy, later severe clinical complications and with patients follow-up. We attempted to study a possible involvement of levels of high-density lipoprotein cholesterol (HDL-C) in steady-state children with SCD, once that this lipid marker has been correlated with anti-inflammatory, anti-oxidative, anti-aggregation, anti-coagulant and pro-fibrinolytic activities, important aspects to be considered in sickle cell disease pathogenesis.</p> <p>Methods</p> <p>We prospectively analyzed biochemical, inflammatory and hematological biomarkers of 152 steady-state infants with SCD and 132 healthy subjects using immunochemistry, immunoassay and electronic cell counter respectively. Clinical data were collected from patient medical records.</p> <p>Results</p> <p>Of the 152 infants investigated had a significant positive association of high-density lipoprotein cholesterol with hemoglobin (P < 0.001), hematocrit (P < 0.001) and total cholesterol (P < 0.001) and a negative significant association with reticulocytes (P = 0.046), leukocytes (P = 0.015), monocytes (P = 0.004) and platelets (P = 0.005), bilirubins [total bilirubin (P < 0.001), direct bilirubin (P < 0.001) and indirect bilirubin (P < 0.001], iron (P < 0.001), aminotransferases [aspartate aminotransferase (P = 0.004), alanine aminotransferase (P = 0.035)], lactate dehydrogenase (P < 0.001), urea (P = 0.030), alpha 1-antitrypsin (P < 0.001), very low-density lipoprotein cholesterol (P = 0.003), triglycerides (P = 0.005) and hemoglobin S (P = 0.002). Low high-density lipoprotein cholesterol concentration was associated with the history of cardiac abnormalities (P = 0.025), pneumonia (P = 0.033) and blood transfusion use (P = 0.025). Lipids and inflammatory markers were associated with the presence of cholelithiasis.</p> <p>Conclusions</p> <p>We hypothesize that some SCD patients can have a specific dyslipidemic subphenotype characterized by low HDL-C with hypertriglyceridemia and high VLDL-C in association with other biomarkers, including those related to inflammation. This represents an important step toward a more reliable clinical prognosis. Additional studies are warranted to test this hypothesis and the probably mechanisms involved in this complex network of markers and their role in SCD pathogenesis.</p

Distúrbios da hemostasia em crianças portadoras de cardiopatias congênitas Hemostatic defects in children with congenital heart disease

As cardiopatias congênitas apresentam elevada prevalência no Brasil, sendo responsáveis por morbi-mortalidade importante, principalmente em menores de 5 anos de idade. Relacionam-se a um perfil complexo de alterações hemostáticas, predispondo tanto a eventos trombóticos como hemorrágicos, e cujo conhecimento é fundamental para o manejo adequado de cada paciente. O presente artigo objetiva descrever as alterações da coagulação relacionadas às cardiopatias congênitas, cianogênicas ou não, em menores de 18 anos de idade, submetidos ou não a procedimentos cirúrgicos.There is a high prevalence of congenital heart diseases in Brazil, which are responsible for high morbidity and mortality, mainly in under 5-year-old children. They are related to a complex profile of hemostatic disorders that lead to thrombotic and hemorrhagic events. Thus knowledge of the diseases is imperative for the adequate management of each patient. The objective of this article is to describe coagulation abnormalities related to congenital cyanotic and non-cyanotic heart diseases, in children, undergoing surgical procedures or not

The association of infection and clinical severity in sickle cell anaemia patients.

Submitted by Ana Maria Fiscina Sampaio ([email protected]) on 2014-07-14T13:28:08Z No. of bitstreams: 1 Moura Neto JP The association....pdf: 140540 bytes, checksum: c0f89759b021d2ddc43c1db26d5e4269 (MD5)Made available in DSpace on 2014-07-14T13:28:08Z (GMT). No. of bitstreams: 1 Moura Neto JP The association....pdf: 140540 bytes, checksum: c0f89759b021d2ddc43c1db26d5e4269 (MD5) Previous issue date: 2011Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Analises Clinicas e Toxicologicas. Salvador, BA, BrasilFundacao de Hematologia e Hemoterapia do Estado da Bahia (HEMOBA). Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Analises Clinicas e Toxicologicas. Salvador, BA, BrasilSickle cell anaemia (SCA) patients have a high risk of infection. We retrospectively investigated the prevalence of infection among SCA patients from Bahia, Brazil. A total of 1415 SCA patients were studied between 1995 and 2009: 190 (13.4%) had hepatitis C virus (HCV), 67 (4.7%) had human T-lymphotropic virus type I (HTLV-I), 44 (3.1%) had hepatitis B virus (HBV), 40 (2.8%) had Chagas’ disease, 11 (0.8%) had human immunodeficiency virus (HIV), and 5 (0.4%) had syphilis. Patients with HCV infection had a higher risk of hospitalisation (OR = 1.52, 95% Cl: 1.07-2.17, P = 0.020), bone disorders (OR = 1.94, 95% Cl: 1.15-3.27, P = 0.011), stroke (OR = 2.17, 95% Cl: 1.12–4.14, P = 0.017), painful crisis (OR = 1.61, 95% Cl: 1.17-2.22, P = 0.004) and leg ulcers (OR = 1.61, 95% Cl: 1.04-3.03, P = 0.031). Patients with HBV infection had a higher risk for bone disorders (OR = 4.90, 95% Cl: 2.08-11.54, P < .010), stroke (OR = 3.01, 95% Cl: 1.29-6.04, P = 0.007), painful crisis (OR = 3.51, 95% Cl: 1.62-7.63, P < 0.001), acute chest syndrome (ACS) (OR = 2.66, 95% Cl: 1.34-5.28, P = 0.004), leg ulcers (OR = 6.60, 95% Cl: 3.37-12.91, P < .001) and vaso-occlusive crisis (OR = 6.34, 95% Cl: 1.96- 20.66, P < 0.001). Patients with HTLV-I infection had a high risk for bone disorders (OR = 2.94, 95% Cl: 1.28-6.74, P = 0.011), respiratory failure (OR = 2.66, 95% Cl: 1.26-5.51, P = 0.012), leg ulcers (OR = 3.27, 95% Cl: 1.69-6.11, P < .001), painful crisis (OR = 1.82, 95% Cl: 1.07-3.13, P = 0.025) and ACS (OR = 1.85, 95% Cl: 1.10-3.41, P < .047). SCA patients with HCV infection had increased triglycerides and low-density lipoprotein cholesterol (P = 0.036; P = 0.027), iron serum (P = 0.016) and ferritin (P = 0.007). These results reveal important roles for these infections in SCA patients’ clinical outcomes, and studies are warranted to determine the mechanisms utilised by these agents and their involvement in disease severity

The DAU Allele and Anti-D Alloimmunization Present With High Frequency in Brazilian Sickle Cell Disease Patients

Submitted by Ana Maria Fiscina Sampaio ([email protected]) on 2018-05-24T16:29:25Z No. of bitstreams: 1 Moura Neto JP The DAU allele....pdf: 492516 bytes, checksum: 1da4d97c7023f2dc7fe10a359a2585d3 (MD5)Approved for entry into archive by Ana Maria Fiscina Sampaio ([email protected]) on 2018-05-24T16:40:51Z (GMT) No. of bitstreams: 1 Moura Neto JP The DAU allele....pdf: 492516 bytes, checksum: 1da4d97c7023f2dc7fe10a359a2585d3 (MD5)Made available in DSpace on 2018-05-24T16:40:51Z (GMT). No. of bitstreams: 1 Moura Neto JP The DAU allele....pdf: 492516 bytes, checksum: 1da4d97c7023f2dc7fe10a359a2585d3 (MD5) Previous issue date: 2017Brazilian National Council of Research (CNPq) (3065427/2007-5 and 484457/2007-1) (M.S.G.); the Foundation of Research and Extension of Bahia (FAPESB) (1431040053063; 9073/2007 and 6234/2010) (M.S.G.); and MCD/CNPq/MS-SCTIEDECIT (409800/2006-6) (M.S.G.).Universidade Federal do Amazonas. Faculdade de Farmacia. Manaus, AM, BrasilUniversidade do Estado da Bahia. Departamento de Ciencias da Vida. Salvador, BA, BrasilUniversidade Federal do Amazonas. Faculdade de Farmacia. Manaus, AM, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Universidade Federal da Bahia, Salvador, BA, BrasilBackground: Antigens DIIIa, DAR and DAU are common in people of African descent and are involved in anti-D alloimmunization. Sickle cell disease (SCD) patients frequently need blood therapy and are vulnerable to alloimmunization. Methods: The study included SCD patients from the Brazilian state of Bahia, which has the highest incidence of the disease in Brazil; 241 SCD patients and 220 healthy individuals were studied. Alleles were characterized by PCR-RFLP and PCR-SSP techniques. Results: The DAU allele was found in 22.3% (43/193) of the SCD patients. Two (1%) patients had the DIIIa/D wild-type genotype, one (0.5%) had the DIIIa/D- genotype, 11 (5.7%) had the DAR/D wildtype genotype and three (1.6%) had the DAR/D- genotype. Two patients were positive for the 667T>G mutation and the 1136C>T mutation, one (0.5%) had the genotype DIIIa/DAU, and one (0.5%) had the genotype DAR/DAU. Conclusion: There was statistical significance when the allele frequencies were evaluated among SCD, sickle cell anemia (HbSS) patients and healthy individuals. The frequencies of the DIIIa, DAR and DAU alleles among SCD patients differ from those of healthy individuals from the same population, and a high frequency of the DAU variant was associated with anti-D alloimmunization in these patients

Ocular lesions in sickle cell disease patients from Bahia, Brazil

OBJECTIVE: The present study aims to describe ocular alterations in sickle cell disease patients in Bahia, a Northeast state, with the highest prevalence of the disease in Brazil. METHODS: We carried out a cross-sectional study in a group of 146 (292 eyes) sickle cell disease patients (90 HBSS and 56 HBSC). Ophthalmologic examination including indirect binocular ophthalmoscopy was performed. Examination was completed by fluorescein angiography to detect retinal lesions. RESULTS: The most frequent ocular lesions identified were "vascular tortuosity" and "black sunburst". Proliferative retinopathy was found in 22 (12.2%) eyes of HBSS patients and 25 (22.3%) eyes of HBSC patients (OR=2.06; CI95%: 1.5-4.06, p=0.022); Its frequency was higher among HBSS patients aged 20-39 years, while in HBSC patients, it peaked after 40 years (35.7% and 42.8%) and dropped sharply afterwards. CONCLUSION: Proliferative retinopathy was described as early as 10 years of age in both patients groups. Proliferative sickle retinopathy can result in blindness and the knowledge of the most prevalent ocular alterations and age risk will be important to establish a protocol of ophthalmologic follow-up, in order to prevent a severe visual loss and increase patient's life quality

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

Submitted by Ana Maria Fiscina Sampaio ([email protected]) on 2013-01-11T20:52:27Z No. of bitstreams: 1 Adorno, Elisangela Vitoria Clinical and molecular....pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5)Made available in DSpace on 2013-01-11T20:52:27Z (GMT). No. of bitstreams: 1 Adorno, Elisangela Vitoria Clinical and molecular....pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Previous issue date: 2008Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Hospital São Rafael. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, BrazilUniversidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, BrasilBeta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 kb thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to those > 18 y, those aged ≤ 18 y had had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36) but a higher frequency of spleen sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α2 3.7 kb thal (determined by PCR analysis) had significantly higher mean hemoglobin concentration (Hb) (8.3 ± 1.34 g/dL, p = 0.018) and packed cell volume (PCV = 27.1% ± 4.26, p = 0.019) but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56, p = 0.0004) and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039)

IL-8 e TNF-alfa: marcadores imunológicos no prognóstico da anemia falciforme

Submitted by Ana Maria Fiscina Sampaio ([email protected]) on 2014-07-15T12:05:58Z No. of bitstreams: 1 Cajado CS Il-8 e tnf-alfa....pdf: 145037 bytes, checksum: 693244e9bbd68cf1683b2fefbf239a61 (MD5)Made available in DSpace on 2014-07-15T12:05:58Z (GMT). No. of bitstreams: 1 Cajado CS Il-8 e tnf-alfa....pdf: 145037 bytes, checksum: 693244e9bbd68cf1683b2fefbf239a61 (MD5) Previous issue date: 2010Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, BrasilUniversidade Estadual de Santa Cruz. Ilhéus, BA, BrasilFundação de Hematologia e Hemoterapia da Bahia. HEMOBA. Salvador, BA, BrasilUniversidade Federal da Bahia. Faculdade de Farmácia. Departamento de Análises Clínicas e Toxicológicas. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, BrasilA hemoglobina S (HbS) possui frequência elevada no Brasil, sendo a Bahia o Estado com maior incidência da doença falciforme. A doença falciforme possui quadro clínico heterogêneo, caracterizado por episódios de vaso-oclusão e eventos infecciosos, aspectos que contribuem para a condição pró-inflamatória crônica descrita entre os seus portadores. O objetivo desse estudo foi investigar aspectos imunológicos e fenotípicos em indivíduos com anemia falciforme provenientes de Salvador, Bahia. O estudo foi desenvolvido em 126 pacientes, sendo 103 em estado clínico estável da doença e 23 hospitalizados por vaso-oclusão e/ou infecção. Foram investigados os polimorfismos -251T>A e -308G>A, localizados respectivamente nos genes da IL-8 e do TNF-alfa, por PCR e PCR-RFLP; os níveis séricos da IL-8 foram detectados por ELISA e a história clínica dos pacientes foi obtida dos prontuários médicos. Houve associação entre a presença do alelo mutante para o polimorfismo -308G>A e a ocorrência de sequestro esplênico (p<0,05). Interessantemente, os níveis séricos de IL-8 foram 32,3 + 43,3pg/ml no grupo de pacientes em crise permanecendo elevados após a alta hospitalar, diminuindo gradualmente. O alelo A do polimorfismo -251 foi associado aos níveis elevados de IL-8, independente do fator indutor. Juntos, nossos resultados mostraram a importância da interação dos marcadores de prognóstico no monitoramento dos portadores com anemia falciforme e a participação da IL-8 no processo de vaso-oclusão. Estudos adicionais são necessários para estabelecer o papel dos níveis de IL-8 e de TNF-alfa, bem como a presença de polimorfismos nesses genes, visando a sua utilização como marcadores de prognóstico no acompanhamento clínico desses indivíduos.Hemoglobin S (HbS) has a high prevalence in Brazil, the Bahia state with the highest incidence of sickle cell disease. Sickle cell disease is a clinical heterogeneous conditions characterized by episodes of vaso-occlusion and infectious events, aspects that contribute to the pro-inflammatory chronic state described among its carriers. The aim of this study was to investigate phenotypic and immunological aspects of patients with sickle cell anemia from Salvador, Bahia. The study was conducted in 126 patients, 103 in steady-state of the disease and 23 hospitalized for vaso-occlusion and / or infection. We investigated the polymorphisms -251T>A and-308G>A respectively located in the genes of IL-8 and TNF-alpha by PCR and PCR-RFLP; serum levels of IL-8 were detected by ELISA and the clinical history of patients was obtained from medical records. There was an association between the presence of the mutant allele A for the polymorphism -308G>A and occurrence of splenic sequestration (p<0.05). Interestingly, serum levels of IL-8 were 32.3 + 43.3 pg / ml. The A allele of -251 polymorphism of IL-8 gene was associated with elevated levels of IL-8, independent of the inducing factor. Together, our results showed the importance of the interaction of prognostic markers in the monitoring of patients with sickle cell anemia and the involvement of IL-8 at the process of vaso-occlusion. Additional studies are warranted to establish the role of interleukin-8 and TNF-alpha, and the presence of polymorphisms in these genes, in order to confirm their use as prognostic markers in the clinical follow up of these individuals