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Cipolotti, Rosana
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Id: lil-434897
Autor: Costa, Paulo J. M. S; Vilela, Rosana Q. B; Cipolotti, Rosana; Figueiredo, Maria S.
Título: Diversidade clínica e laboratorial no haplótipo bantu da anemia falciforme / Clinical and laboratorial diversity in the bantu haplotype of sickle cell anemia
Fonte: Rev. bras. hematol. hemoter;28(1):40-44, jan.-mar. 2006. tab.
Idioma: pt.
Resumo: Muitos fatores são responsáveis pela diversidade de sintomas nos pacientes de anemia falciforme, entre eles: sexo, idade, haplótipos e nível de hemoglobina fetal. O objetivo deste estudo foi verificar a diversidade clínica e laboratorial dentro do haplótipo bantu. Realizou-se um estudo descritivo onde foram avaliados 18 crianças e adolescentes portadores de anemia falciforme e homozigóticos para o haplótipo bantu, relacionando sexo e idade com as características clínicas e laboratoriais, além de relacioná-las diretamente entre si. As amostras foram do tipo casuais simples. O tamanho da amostra teve uma variação de freqüência para o evento de 30 por cento a 65 por cento e nível de confiança de 99,9 por cento. As análises estatísticas foram realizadas através do programa EPIINFO, versão 6.04b, com erro a de 5 por cento. A faixa etária de 01 a 11 anos teve um maior número de infecções que a faixa de 12 a 19, além de níveis mais altos de hemoglobina fetal. Os valores do hematócrito foram maiores no sexo feminino. Níveis mais elevados de hemoglobina A2 foram relacionados com maior número de infecções, enquanto níveis mais elevados de hemo­globina fetal foram relacionados com maiores valores de hematócrito e menor número de crises álgicas/ano de acompanhamento. O número de transfusões/ano teve correlação positiva com o número de crises álgicas, de infecções e de inter­namentos. Este estudo sugere que há uma diversidade clínica e laboratorial dentro do haplótipo bantu e possivelmente está relacionado com o sexo, a idade e os níveis de hemoglobina fetal e A2 dos pacientes.

Several factors have been identified as possibly being responsible for the diversity of sickle cell anemia patientsÆ symptoms, including gender, age, haplotypes and hemoglobin F levels. The aim of this paper is to verify the clinical and laboratorial diversity of the Bantu haplotype. A descriptive study was performed of eighteen children and adolescents with sickle cell anemia and homozygous for the Bantu haplotype. Gender and age were assessed in respect to clinical and laboratorial features. Statistical analysis of the results was achieved using the EPIINFO program version 6.04. Children from 1 to 11 years old had more infections than adolescents from 12 to 19 and higher levels of hemoglobin F. The hematocrit was higher in girls. Higher levels of hemoglobin A2 were related to more infections, and higher levels of hemoglobin F were related to hematocrit values and lower numbers of infections and periods in hospital. This study suggests that there is diversity within the Bantu haplotype, which is possibly related to gender, age and hemoglobin A2 and hemoglobin F levels of patients.
Descritores: Anemia Falciforme
-Haplótipos
Globinas
Tamanho da Amostra
Técnicas de Laboratório Clínico
Globinas beta
Hematócrito
Hemoglobinopatias
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-338287
Autor: Naoum, Paulo C; Moraes, Magaly S; Radispiel, Janaína; Cavalheri, Priscila P; Valeri, Fábio F.
Título: Hb D/Talassemia beta associada à anemia crônica / Hb D/ Beta thalassaemia associated with chronic anaemia
Fonte: Rev. bras. hematol. hemoter;24(1):51-52, mar. 2002. ilus, tab.
Idioma: pt.
Resumo: We describe a case of Hb D/Beta thalassemia associated with chronic anemia. Hematological analyses performed in a patient with chronic anemia demonstrating microcytosis and hypochromic in his erythrocytes. Specific laboratory diagnosis performed by alkaline and acid electrophoresis, and fetal determination by alkali resistance, indicated it to be Hb D associated with beta thalassemia. Analyses carried out on his family (father, mother and brother) confirmed the suspected diagnosis. Hb D/Beta thalassemia is a very rare interaction in the Brazilian population, and its determination required specific laboratorial techniques and hematological analyses.
Descritores: Talassemia beta
-Hemoglobinas/metabolismo
Globinas beta
Anemia
Mutação
Tipo de Publ: Carta
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: biblio-837975
Autor: Avancini, João; Sanches, José Antonio; Cherubim, Andre Pires Zanata; Pazzini, Renato; Oliveira, Cristina Mendes de; Sumita, Laura Masami; Valente, Neusa Yuriko Sakai; Pannuti, Claudio Sergio; Festa Neto, Cyro.
Título: Angiosarcoma in HIV-negative patients is not associated with HHV-8
Fonte: An. bras. dermatol;91(6):738-741, Nov.-Dec. 2016. tab, graf.
Idioma: en.
Resumo: Abstract: BACKGROUND: Angiosarcoma is an aggressive, malignant neoplasm of vascular or lymphatic origin. Herpes virus 8 (HHV-8) is a member of the herpes family with a tropism for endothelial cells and it has been proven to induce vascular neoplasms, such as Kaposi's sarcoma. The role of HHV-8 in the pathogenesis of angiosarcoma has not been well defined. OBJECTIVE: To investigate the relationship between the presence of HHV-8 and angiosarcoma. METHODS: In this study, the team investigated the relationship between the presence of HHV-8, as determined by polymerase chain reaction, and angiosarcoma, using samples from patients with epidemic Kaposi's sarcoma as controls. RESULTS: While all control cases with epidemic Kaposi's sarcoma were positive for HHV-8, none of the angiosarcoma cases was. CONCLUSION: These findings support most previous studies that found no association between HHV-8 and angiosarcoma.
Descritores: Sarcoma de Kaposi/virologia
Neoplasias Cutâneas/virologia
Infecções Oportunistas Relacionadas com a AIDS/virologia
Soronegatividade para HIV
Herpesvirus Humano 8/isolamento & purificação
Hemangiossarcoma/virologia
-Sarcoma de Kaposi/patologia
Neoplasias Cutâneas/patologia
Brasil
DNA Viral
Infecções por HIV/virologia
Reação em Cadeia da Polimerase
Estudos Retrospectivos
Infecções Oportunistas Relacionadas com a AIDS/patologia
Globinas beta/análise
Hemangiossarcoma/patologia
Limites: Humanos
Masculino
Feminino
Idoso
Idoso de 80 Anos ou mais
Responsável: BR1.1 - BIREME


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Id: biblio-898909
Autor: Nongbri, Sandor Rudy L; Verma, Henu Kumar; Lakkakula, Bhaskar V. K. S; Patra, Pradeep Kumar.
Título: Presence of atypical beta globin (HBB) gene cluster haplotypes in sickle cell anemia patients of India
Fonte: Rev. bras. hematol. hemoter;39(2):180-182, Apr.-June 2017. tab.
Idioma: en.
Projeto: Chhattisgarh Council of Science & Technology.
Descritores: Haplótipos
Família Multigênica
Globinas beta
Índia
Anemia Falciforme
Limites: Humanos
Tipo de Publ: Carta
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-670464
Autor: Okumura, Jéssika Viviani; Lobo, Clarisse Lopes de Castro; Bonini-Domingos, Claudia Regina.
Título: Beta-S globin haplotypes in patients with sickle cell anemia: one approach to understand the diversity in Brazil
Fonte: Rev. bras. hematol. hemoter;35(1):71-72, 2013. tab.
Idioma: en.
Descritores: Haplótipos
Globinas beta
Anemia Falciforme
Limites: Humanos
Tipo de Publ: Carta
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-681979
Autor: Rocha, Lilianne Brito da Silva; Silva Jn, Geraldo Bezerra da; Daher, Elizabeth de Francesco; Rocha, Hermano Alexandre Lima; Elias, Darcielle Bruna Dias; Goncalves, Romelia Pinheiro.
Título: Kidney dysfunction and beta S-haplotypes in patients with sickle cell disease
Fonte: Rev. bras. hematol. hemoter;35(3):171-173, jun. 2013. tab.
Idioma: en.
Resumo: Objective: To investigate the association between kidney dysfunction and haplotypes in sickle cell disease. Methods: A cohort of 84 sickle cell disease patients, treated in a public health service in Fortaleza, Brazil, was studied. Hemoglobin S haplotypes were obtained from 57 patients as they had recently received blood transfusions with 18 of them agreeing to undertake urinary concentrating ability and acidification tests. The glomerular filtration rate was estimated using the Modification of Diet in Renal Disease Study equation. Urinary concentration was evaluated utilizing the urinary and serum osmolality ratio (U/Posm) after 12 hours of water deprivation. Urinary acidification was evaluated by measuring the urinary pH before and after the administration of oral CaCl2. The analysis of the haplotypes of the beta S gene cluster was carried out by polymerase chain reaction-restriction fragment length polymorphism. The analysis of variance (ANOVA) test was used for multiple comparisons of means and the Newman-Keuls test was used to identify which groups were significantly different. Results: The mean age of the patients was 33 ± 13 years with 64.2% being females. The glomerular filtration rate was normal in 25 cases (30%) and a rate > 120 mL/min was seen in 52 cases (62%). Urinary concentration deficit was found in all patients who underwent the test and urinary acidification in 22%. There was no significant difference when comparing patients with the Bantu/Bantu and ...
Descritores: Haplótipos
Globinas beta
Hemoglobinopatias
Anemia Falciforme
Rim/fisiopatologia
Testes de Função Renal
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-710200
Autor: Laurentino, Marília Rocha; Maia Filho, Pedro Aurio; Barbosa, Maritza Cavalcante; Bandeira, Izabel Cristina Justino; Rocha, Lilianne Brito da Silva; Gonçalves, Romelia Pinheiro.
Título: Influence of ?S-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia
Fonte: Rev. bras. hematol. hemoter;36(2):121-125, Mar-Apr/2014. tab, graf.
Idioma: en.
Resumo: Background: Sickle cell anemia is a chronic inflammatory disease characterized by an increased production of proinflammatory cytokines including tumor necrosis factor-alpha. Hydroxyurea, by decreasing the polymerization of hemoglobin, reduces inflammatory states. The effect of the genetic polymorphisms of sickle cell patients on tumor necrosis factor-alpha levels remains unknown. Objective: The aim of this study was to investigate the association of tumor necrosis factor-alpha levels with β-globin haplotypes and the use of hydroxyurea. Methods: A cross-sectional study was performed of 67 patients with sickle cell anemia diagnosed at steady-state in a referral hospital in Fortaleza, Ceará, Brazil. A group of 26 healthy individuals was used as control. βS-haplotype analysis was performed by restriction fragment length polymorphism-polymerase chain reaction. The tumor necrosis factor-alpha levels were measured by the enzyme-linked immunosorbent assay test. Laboratory data (complete blood count and fetal hemoglobin) and information regarding the use of hydroxyurea were obtained from medical records. Statistical analysis was performed using R software with the Kruskal-Wallis and Mann-Whitney tests. Statistical significance was established for p-values < 0.05 for all analyses. Results: The mean age of the participants was 35.48 years. Patients with sickle cell anemia had significantly higher tumor necrosis factor-alpha levels than controls (p-values < 0.0001). Tumor necrosis factor-alpha levels were lower in sickle cell anemia patients who were receiving hydroxyurea treatment than those who were not (p-value = 0.1249). Sickle cell anemia patients with Bantu/n genotype had significantly higher levels than patients with the Bantu/Benin genotype (p-value = 0.0021). Conclusion: In summary, βS-globin haplotypes, but not hydroxyurea therapy, have a role in modulating tumor necrosis factor-alpha levels in sickle cell anemia adults at steady-state...
Descritores: Anemia Falciforme
Globinas beta
Hidroxiureia
Fator de Necrose Tumoral alfa
Limites: Humanos
Masculino
Feminino
Adolescente
Adulto Jovem
Pessoa de Meia-Idade
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-710195
Autor: Torres, Lidiane de Souza.
Título: Comment on "Influence of âS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia"
Fonte: Rev. bras. hematol. hemoter;36(2):102-103, Mar-Apr/2014.
Idioma: en.
Descritores: Anemia Falciforme
Globinas beta
Haplótipos
Hidroxiureia
Fator de Necrose Tumoral alfa
Limites: Humanos
Tipo de Publ: Comentário
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Souza, Dorotéia Rossi Silva
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Id: lil-699997
Autor: Ondei, Luciana de Souza; Estevao, Isabeth da Fonseca; Rocha, Marina Ibelli Pereira; Percario, Sandro; Souza, Doroteia Rossi Silva; Pinhel, Marcela Augusta de Souza; Bonini-Domingos, Claudia Regina.
Título: Oxidative stress and antioxidant status in beta-thalassemia heterozygotes
Fonte: Rev. bras. hematol. hemoter;35(6):409-413, 2013. tab.
Idioma: en.
Resumo: Background: Several studies have evaluated the oxidant and antioxidant status of thalassemia patients but most focused mainly on the severe and intermediate states of the disease. Moreover, the oxidative status has not been evaluated for the different beta-thalassemia mutations. Objective: To evaluate lipid peroxidation and Trolox equivalent antioxidant capacity in relation to serum iron and ferritin in beta thalassemia resulting from two different mutations (CD39 and IVS-I-110) compared to individuals without beta-thalassemia. Methods: One hundred and thirty subjects were studied, including 49 who were heterozygous for beta-thalassemia and 81 controls. Blood samples were subjected to screening tests for hemoglobin. Allele-specific polymerase chain reaction was used to confirm mutations for beta-thalassemia, an analysis of thiobarbituric acid reactive species was used to determine lipid peroxidation, and Trolox equivalent antioxidant capacity evaluations were performed. The heterozygous beta-thalassemia group was also evaluated for serum iron and ferritin status. Results: Thiobarbituric acid reactive species (486.24 ± 119.64 ng/mL) and Trolox equivalent antioxidant capacity values (2.23 ± 0.11 mM/L) were higher in beta-thalassemia heterozygotes compared to controls (260.86 ± 92.40 ng/mL and 2.12 ± 0.10 mM/L, respectively; p-value < 0.01). Increased thiobarbituric acid reactive species values were observed in subjects with the CD39 mutation compared with those with the IVS-I-110 mutation (529.94 ± 115.60 ng/mL and 453.39 ± 121.10 ng/mL, respectively; p-value = 0.04). However, average Trolox equivalent antioxidant capacity values were similar for both mutations (2.20 ± 0.08 mM/L and 2.23 ± 0.12 mM/L, respectively; p-value = 0.39). There was no influence of serum iron and ferritin levels on thiobarbituric acid reactive species and Trolox equivalent antioxidant capacity values. Conclusion: ...
Descritores: Antioxidantes
Globinas beta
Talassemia beta
Heterozigoto
Peroxidação de Lipídeos
Mutação
Estresse Oxidativo
Substâncias Reativas com Ácido Tiobarbitúrico
Limites: Humanos
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-672985
Autor: Ndugwa, C; Higgs, D; Fisher, C; Hambleton, I; Mason, K; Serjeant, BE; Serjeant, GR.
Título: Homozygous sickle cell disease in Uganda and Jamaica a comparison of Bantu and Benin haplotypes / La anemia de células falciformes homocigóticas en Uganda y Jamaica comparación de haplotipos Bantú y Benin
Fonte: West Indian med. j;61(7):684-691, Oct. 2012. tab.
Idioma: en.
Resumo: OBJECTIVE: To compare the haematological and clinical features of homozygous sickle cell (SS) disease in Bantu and Benin haplotypes in a cross-sectional study of 115 Ugandan patients attending the Sickle Cell Clinic at Mulago Hospital, Kampala, Uganda, with 311 patients in the Jamaican Cohort Study. METHODS: This involved comparison of clinical features and haematology with special reference to genetic determinants of severity including fetal haemoglobin levels, beta-globin haplotype and alpha thalassaemia status. RESULTS: The Bantu haplotype accounted for 94% of HbS chromosomes in Ugandan patients and the Benin haplotype for 76% of HbS chromosomes in Jamaica. Ugandan patients were marginally more likely to have alpha thalassaemia, had similar total haemoglobin and fetal haemoglobin levels but had higher reticulocyte counts and total bilirubin levels consistent with greater haemolysis. Ugandan patients had less leg ulceration and priapism, but the mode of clinical presentation, prevalence of dactylitis, features of bone pain and degree of delay in sexual development, assessed by menarche, were similar in the groups. In Ugandan patients, a history of anaemic episodes was common but these were poorly documented. CONCLUSION: The haematological and clinical features of the Bantu haplotype in Uganda were broadly similar to the Benin haplotype in Jamaica except for less leg ulceration and priapism and possibly greater haemolysis among Ugandan subjects. Anaemic episodes in Uganda were treated empirically by transfusion often without a clear diagnosis; better documentation including reticulocyte counts and observations on spleen size is necessary to evolve appropriate models of care.

OBJETIVO: Comparar los rasgos clínicos de la anemia de células falciformes homocigóticas (SS) en los haplotipos Bantú y Benin en un estudio transversal de 115 pacientes ugandeses que asisten a la Clínica de la anemia de células falciformes en el Hospital de Mulago, Kampala, Uganda, con 311 pacientes en un estudio de cohorte jamaicano. MÉTODOS: El estudio conllevó la comparación de los rasgos clínicos y hematológicos con referencia especial a los determinantes genéticos de la severidad, incluyendo los niveles de la hemoglobina fetal, haplotipos del gen de la globina beta, y el estado de la alfa talasemia. RESULTADOS: El haplotipo Bantú dio cuenta del 94% de los cromosomas HbS en los pacientes ugandeses, en tanto que los haplotipos Benin dieron cuenta del 76% de los cromosomas de HbS en Jamaica. Los pacientes de Uganda presentaron una probabilidad marginalmente mayor de alfa talasemia, tenían niveles similares de hemoglobina total y hemoglobina fetal, pero en cambio presentaban conteos más altos de reticulocitos así como niveles mayores de bilirrubina total, en correspondencia con una mayor hemólisis. Los pacientes ugandeses presentaban menor ulceración de las piernas y priapismo, pero el modo de presentación clínica, la prevalencia de dactilitis, los rasgos de dolor óseo, y el grado de retraso en el desarrollo sexual, evaluado por la menarquia, fueron similares en todos los grupos. Los pacientes de Uganda se caracterizaron comúnmente por una historia de episodios de anemia, pobremente documentados. CONCLUSIÓN: Los rasgos clínicos y hematológicos del haplotipo Bantú en Uganda fueron considerablemente similares al haplotipo Benin en Jamaica, salvo por una menor presencia de ulceración de las piernas y priapismo, así como posiblemente mayor hemólisis entre los sujetos de Uganda. Los episodios de anemia en Uganda fueron tratados empíricamente mediante transfusión, a menudo sin un diagnóstico claro. Se necesita una mejor documentación - incluyendo conteos de reticulocitos - así como observaciones del tamaño del bazo, a fin de desarrollar modelos de cuidado apropiados.
Descritores: Anemia Falciforme/genética
Hemoglobina Falciforme/genética
-Anemia Falciforme/complicações
Anemia Falciforme/fisiopatologia
Bilirrubina/sangue
Estudos de Coortes
Estudos Transversais
Hemoglobina Fetal/análise
Haplótipos
Homozigoto
Hemoglobina Falciforme/classificação
Jamaica
Dor Musculoesquelética/etiologia
Priapismo/etiologia
Puberdade Tardia/etiologia
Reticulócitos/citologia
Úlcera Cutânea/etiologia
Esplenomegalia/diagnóstico
Esplenomegalia/epidemiologia
Uganda
Talassemia alfa/complicações
Globinas beta/classificação
Globinas beta/genética
Limites: Adolescente
Adulto
Criança
Pré-Escolar
Feminino
Humanos
Lactente
Masculino
Pessoa de Meia-Idade
Adulto Jovem
Tipo de Publ: Estudo Comparativo
Estudo Multicêntrico
Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



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