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Id: lil-780843
Autor: Silva, Ronaldo Celerino da; Cruz, Heidi Lacerda Alves da; Brandão, Lucas André Cavalcanti; Guimarães, Rafael Lima; Montenegro, Lilian Maria Lapa; Schindler, Haiana Charifker; Segat, Ludovica; Crovella, Sergio.
Título: DEFB1 gene polymorphisms and tuberculosis in a Northeastern Brazilian population
Fonte: Braz. j. microbiol;47(2):389-393, Apr.-June 2016. tab.
Idioma: en.
Resumo: Abstract β-Defensin-1, an antimicrobial peptide encoded by the DEFB1 gene, is known to play an important role in lung mucosal immunity. In our association study we analyzed three DEFB1 functional polymorphisms -52G>A (rs1799946), -44C>G (rs1800972) and -20G>A (rs11362) in 92 tuberculosis patients and 286 healthy controls, both from Northeast Brazil: no association was found between the studied DEFB1 polymorphisms and the disease. However we cannot exclude that this lack of association could be due to the low number of subjects analyzed, as suggested by the low statistical power achieved for the three analyzed SNPs (values between 0.16 and 0.50).
Descritores: Tuberculose/genética
Polimorfismo de Nucleotídeo Único
beta-Defensinas/genética
-Tuberculose/epidemiologia
Haplótipos
Brasil/epidemiologia
Dados de Sequência Molecular
Sequência de Bases
Predisposição Genética para Doença
Genótipo
Limites: Seres Humanos
Masculino
Feminino
Adulto
Meia-Idade
Idoso
Adulto Jovem
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: Seres Humanos
Tipo de Publ: Carta
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: biblio-888954
Autor: Gu, QL; Han, Y; Lan, YM; Li, Y; Kou, W; Zhou, YS; Hai, XJ; Yan, B; Ci, CH.
Título: Association between polymorphisms in the APOB gene and hyperlipidemia in the Chinese Yugur population
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;50(11):e6613, 2017. tab.
Idioma: en.
Projeto: National Natural Science Foundation; . Gansu Provincial Natural Science Foundation; . Northwest University.
Resumo: We investigated the influence of apolipoprotein B gene (APOB) variants on the risk of hyperlipidemia (HL) in 631 middle-aged and elderly members of the Chinese Yugur population (HL, n=336; normolipidemia, n=295). APOB polymorphisms were identified using mass spectrometry, and five single nucleotide polymorphisms (rs1042034, rs2163204, rs512535, rs676210, and rs679899) and serum lipids were further analyzed. rs1042034 and rs676210 were significantly associated with HL (P<0.05). Compared with the GG or AA genotype, individuals with AG and AG+AA in rs1042034 and with AG and AG+GG in rs676210 had a 1.67-fold (95%CI=1.20-2.33),1.63-fold (95%CI=1.19-2.24), 1.72-fold (95%CI=1.24-2.40), and 1.67-fold (95%CI=1.21-2.291) increased risk of high HL, respectively. rs2163204 was in strong linkage disequilibrium with rs1042034, rs676210, and rs679899, and strong disequilibrium was observed between rs1042034 and rs676210 (D′>0.9). Compared with the GTGAA haplotype, haplotypes ATGGA and ATAGG were more strongly associated with HL [odds ratio (OR)=1.46, 95%CI=0.02-2.11; OR=1.63, 95%CI=1.03-2.60, respectively]. The risk factors age (P=0.008), body mass index (P<0.0001), GA+GG genotype in rs676210 (P=0.009), and alcohol consumption (P=0.056) contributed strongly to HL development. The A allele of rs1042034 and the G allele of rs676210 may thus predispose middle-aged and elderly members of the Chinese Yugur population to HL in combination with other genetic or nutritional factors, and could be used as new genetic markers for HL screening.
Descritores: Apolipoproteínas B/genética
Polimorfismo de Nucleotídeo Único
Hiperlipidemias/genética
-Haplótipos
Estudos de Casos e Controles
Modelos Lineares
China/etnologia
Fatores de Risco
Medição de Risco
Grupo com Ancestrais do Continente Asiático/genética
Estudos de Associação Genética
Frequência do Gene
Hiperlipidemias/etnologia
Lipídeos/sangue
Limites: Seres Humanos
Masculino
Feminino
Meia-Idade
Idoso
Idoso de 80 Anos ou mais
Responsável: BR1.1 - BIREME


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Id: biblio-840021
Autor: Paula, Roberta S; Souza, Vinícius C; Machado-Silva, Wilcelly; Almeida, Bruno Ratier S; Daros, Andersen C; Gomes, Lucy; Ferreira, Aparecido P; Brito, Ciro J; Córdova, Cláudio; Moraes, Clayton F; Nóbrega, Otávio T.
Título: Serum Klotho (but not haplotypes) associate with the post-myocardial infarction status of older adults
Fonte: Clinics;71(12):725-732, Dec. 2016. tab, graf.
Idioma: en.
Projeto: CNPq; . FAPDF.
Resumo: OBJECTIVES: The number of deaths from vascular diseases is incredibly high worldwide, and reliable markers for major events are still needed. The current cross-sectional study investigated the association of Klotho haplotypes and Klotho serum levels with classic risk factors and a clinical history of vascular events. METHODS: Clinical, anthropometric, biochemical and nutritional assessments were conducted with 168 older adults, complemented by genotyping (rs9536314 and rs9527025) and the detection of serum Klotho (ELISA). RESULTS: Klotho levels and haplotypes did not associate with most classic risk factors for vascular events, including markers such as C-reactive protein and homocysteine. A positive association was only found between Klotho levels and the previous occurrence of a myocardial infarction by both correlational (p=0.006) and variance analyses (p<0.001), and these associations were independent of the context. CONCLUSION: Our results suggest that serum Klotho is higher in individuals with a clinical history of myocardial infarction but not with a history of coronary artery disease or stroke. None of the Klotho haplotypes were associated with the variables investigated herein.
Descritores: Glucuronidase/genética
Glucuronidase/sangue
Infarto do Miocárdio/sangue
-Valores de Referência
Doença da Artéria Coronariana/genética
Doença da Artéria Coronariana/sangue
Haplótipos
Ingestão de Energia
Proteína C-Reativa/análise
Ensaio de Imunoadsorção Enzimática
Biomarcadores/sangue
Avaliação Nutricional
Fatores Sexuais
Antropometria
Estudos Transversais
Fatores de Risco
Análise de Variância
Fatores Etários
Estatísticas não Paramétricas
Acidente Vascular Cerebral/genética
Acidente Vascular Cerebral/sangue
Técnicas de Genotipagem
Homocisteína/sangue
Infarto do Miocárdio/genética
Limites: Seres Humanos
Masculino
Feminino
Meia-Idade
Idoso
Idoso de 80 Anos ou mais
Responsável: BR1.1 - BIREME


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Id: lil-640867
Autor: Silva Filho, Isaac Lima da; Ribeiro, Georgina Severo; Moura, Patrícia Gomes; Vechi, Monica Longo; Cavalcante, Andréa Cony; Andrada-Serpa, Maria José de.
Título: Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro
Fonte: Rev. bras. hematol. hemoter;34(3):196-201, 2012. tab.
Idioma: en.
Resumo: OBJECTIVE: To describe clinical events of sickle cell disease and the correlation with β-globin haplotypes and α-thalassemia in under 6-year-old children. METHODS: A retrospective study was conducted of under 6-year-old children from the neonatal screening program in Rio de Janeiro. Forty-eight male and 48 female children were enrolled in this study, 79 with sickle cell anemia and 17 with hemoglobin SC. The mean age was 29.9 (standard deviation = 20.9) months, 62 (16.2 ± 8.6) were aged between 0-3 years old and 34 (54.9 ± 11.3) were from 3-6 years old. Painful events, acute splenic sequestration, hemolytic crises, hand-foot and acute chest syndromes and infections were evaluated. RESULTS: The events were more frequent in under 3-year-old children, 94% of children had at least one episode. Infection was the most common event affecting 88.5% of children. Acute splenic sequestration took place earlier, while painful crises and acute chest syndromes in under 6-year-old children. Thal-α 3.7 was observed in 20.9% of cases. Bantu was the most frequent haplotype found, followed by Benin. No correlation was observed between clinical events and β-globin haplotypes. Children with sickle cell anemia and α-thalassemia have less infectious events. No correlation was found among these polymorphisms and clinical events, however, the majority of children with Bantu/Bantu and without α-thalassemia had more clinical events.
Descritores: Haplótipos
Evolução Clínica
Triagem Neonatal
Talassemia alfa
Anemia Falciforme
Limites: Seres Humanos
Masculino
Feminino
Pré-Escolar
Criança
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-761693
Autor: Guedes, Helisamara Mota; Souza, Kesia Meiriele; Lima, Patrícia de Oliveira; Martins, José Carlos Amado; Chianca, Tânia Couto Machado.
Título: Relationship between complaints presented by emergency patients and the final outcome / Relação entre queixas apresentadas por pacientes na urgência e o desfecho final / Relación entre las quejas presentadas por pacientes en la urgencia y el desenlace final
Fonte: Rev. latinoam. enferm. (Online);23(4):587-594, July-Aug. 2015. tab.
Idioma: en.
Projeto: Fundação de Amparo à Pesquisa do Estado de Minas Gerais.
Resumo: AbstractObjective: to relate complaints presented by emergency room patients, classified using the Manchester Triage System, with the final outcome (discharge/death/transfer).Methods: prospective cohort study, involving 509 patients who were admitted to the emergency room and remained there for more than 24 hours after admission, being monitored to the final outcome. Data were analyzed with a statistical program using descriptive and analytical statistics.Results: the mean age of the patients was 59.1 years and 59.3% were male. The main complaints were unwell adult (130 - 22.5%), shortness of breath in adults (81 - 14.0%), abdominal pain in adults (58 - 10.0%) and behaving strangely (34 - 5.9%), with 87% of the patients being discharged. More deaths were found in the patients classified in the severe colors, with 42.8% classified as red, 17.0% as orange and 8.9% as yellow. Among the patients classified as green, 9.6% died.Conclusion: in the various colors of the Manchester Triage System, death prevailed in patients that presented the complaints of unwell adult, shortness of breath, head injury, major trauma, diarrhea and vomiting. The higher the clinical priority the greater the prevalence of death.

ResumoObjetivo:relacionar queixas apresentadas pelos pacientes classificados pelo Sistema de Triagem de Manchester em um pronto-socorro com o desfecho final (alta/óbito/transferência).Métodos:estudo de coorte prospectivo, realizado com 509 pacientes que deram entrada no pronto-socorro e que nele permaneceram por mais de 24 horas após a admissão, sendo acompanhados até o desfecho final. Os dados foram digitados e analisados com estatística descritiva e analítica em um pacote estatístico.Resultados:entre os pacientes, 59,3% eram do sexo masculino, com idade média de 59,1 anos. As queixas principais eram de mal-estar no adulto (130-22,5%), dispneia em adulto (81-14,0%), dor abdominal em adulto (58-10,0%), alterações de comportamento (34-5,9%), sendo que, desses, 87% recebeu alta. Foram encontrados mais óbitos nos pacientes classificados nas cores mais graves, sendo 42,8% classificados como vermelho, 17,0% laranja e 8,9% como amarelo. Entre os pacientes classificados como verde, 9,6% evoluiu para óbito.Conclusão:nas diversas cores do Sistema de Triagem Manchester, o óbito prevaleceu nos pacientes que apresentaram a queixa de mal-estar no adulto, dispneia, sofreram trauma craniano, trauma maior, diarreia e vômito. Quanto maior a prioridade clínica maior a prevalência de óbito.

ResumenObjetivo:relacionar las quejas presentadas por los pacientes clasificados por el Sistema de Clasificación de Manchester, en un servicio de urgencia, con el desenlace final (alta/muerte/ transferencia).Métodos:estudio de cohorte prospectiva, realizado con 509 pacientes que dieron entrada en el servicio de urgencia y que en él permanecieron por más de 24 horas después de la admisión, siendo seguidos hasta el desenlace final. Los datos fueron introducidos y analizados con estadística descriptiva y analítica, en un programa estadístico.Resultados:entre los pacientes, 59,3% eran del sexo masculino, con edad promedio de 59,1 años. Las quejas principales eran de malestar en adulto (130-22,5%), disnea en adulto (81-14,0%), dolor abdominal en adulto (58- 10,0%), alteraciones de comportamiento (34-5,9%), siendo que, de estos, 87% recibió alta. Fueron encontradas más muertes entre los pacientes clasificados con los colores más graves, siendo 42,8% clasificados como rojo, 17,0% naranja y 8,9% como amarillo. Entre los pacientes clasificados como verde, 9,6% evolucionó para la muerte.Conclusión:en los diversos colores del Sistema de Clasificación Manchester, la muerte prevaleció en los pacientes que presentaron la queja de malestar en adulto, disnea, sufrieron trauma craniano, trauma mayor, diarrea y vómito. Cuanto mayor es la prioridad clínica mayor es la prevalencia de la muerte.
Descritores: Antígenos HLA-B
Haplótipos/imunologia
Transplante de Células-Tronco Hematopoéticas
Leucemia-Linfoma Linfoblástico de Células Precursoras
Fator de Necrose Tumoral alfa
-Aloenxertos
Intervalo Livre de Doença
Doença Enxerto-Hospedeiro/genética
Doença Enxerto-Hospedeiro/imunologia
Doença Enxerto-Hospedeiro/mortalidade
Antígenos HLA-B/genética
Antígenos HLA-B/imunologia
Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
Leucemia-Linfoma Linfoblástico de Células Precursoras/imunologia
Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade
Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia
Irmãos
Taxa de Sobrevida
Doadores de Tecidos
Fator de Necrose Tumoral alfa/genética
Fator de Necrose Tumoral alfa/imunologia
Limites: Adolescente
Adulto
Criança
Pré-Escolar
Feminino
Seres Humanos
Masculino
Meia-Idade
Tipo de Publ: Ensaio Clínico
Estudo Multicêntrico
Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: biblio-960418
Autor: Jaime Fagundo, Juan Carlos; Bencomo Hernández, Antonio; Sarduy Saez, Sandra; Llerena Moreno, Dunahisy.
Título: Trasplante haploidéntico de progenitores hematopoyéticos: una necesidad / Haploidentical hematopoietic transplant: a need
Fonte: Rev. cuba. hematol. inmunol. hemoter;33(3):27-36, jul.-set. 2017. tab.
Idioma: es.
Resumo: El trasplante de células progenitoras hematopoyéticas es una terapia potencialmente curativa para pacientes con diversas enfermedades; pero solo el 25 - 30 por ciento de estos cuenta con un hermano compatible para el sistema de antígenos leucocitarios humanos. Hace algunos años se ha desarrollado el trasplante con un solo haplotipo idéntico; el que está disponible para la mayoría de los pacientes y se ha llamado trasplante haploidéntico. Se han realizado diferentes intentos para depletar la médula de linfocitos T antes de ser infundida, debido principalmente, a la frecuencia de enfermedad injerto contra huésped en este tipo de trasplante; lo que se asocia con una mayor falla primaria de injerto y a una lenta recuperación inmune. En la actualidad se realizan varios métodos que permiten sortear estos inconvenientes, por lo que este trasplante surge como una alternativa importante para los que no tienen un hermano totalmente compatible y tiene como ventajas que permite escoger entre varios candidatos y evitar la pérdida de tiempo en búsquedas de donantes no familiares(AU)

Hematopoietic stem cell transplantation is a potentially curative therapy for patients with various diseases, but only 25- 30 percent have a compatible donor for human leukocyte antigen. A few years ago it has been developed a transplant with only one identical haplotype; which it is available for most patients, and has been called haploidentical transplantation. There have been attempts to deplete the marrow of T lymphocytes before being infused, mainly due to the presence graft-versus-host disease, and this can lead to primary graft failure and a slow immune recovery. At present, several methods to overcome these drawbacks are made, so this transplantation emerges as an important alternative for those who do not have a fully matched sibling and has the advantage that allows choosing between several candidates and prevents loss of time searching unrelated donor(AU)
Descritores: Haplótipos/imunologia
Transplante de Células-Tronco Hematopoéticas/métodos
Transplante Haploidêntico/métodos
Responsável: CU1.1 - Biblioteca Médica Nacional


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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: Seres Humanos
Tipo de Publ: Carta
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: lil-713689
Autor: Silva, Sônia Maria Usó Ruiz.
Título: Comments on: frequency of alleles and haplotypes of the human leukocyte antigen system in Bauru, São Paulo
Fonte: Rev. bras. hematol. hemoter;36(3):169-170, May-Jun/2014.
Idioma: en.
Descritores: Haplótipos
Alelos
Antígenos HLA
Leucócitos
Limites: Seres Humanos
Tipo de Publ: Comentário
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: Seres Humanos
Masculino
Feminino
Adulto
Meia-Idade
Idoso
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM



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