Base de dados : LILACS
Pesquisa : D12.776.543.695.875 [Categoria DeCS]
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Id: lil-601005
Autor: Garcia, Fernanda Bernadelli; Reis, Rafaella Kizzy Inácio dos; Silva, Lucas Emanuel Pinheiro da; Moraes-Souza, Helio.
Título: Analysis of the -398C/T polymorphism in the perforin gene in oncohematological patients
Fonte: Rev. bras. hematol. hemoter;33(4):274-276, 2011. ilus, tab.
Idioma: en.
Resumo: BACKGROUND: Recently, single nucleotide polymorphisms (SNPs) were identified in the promoter region of the perforin gene (PRF1) and it was found that the -398T mutant allele is correlated with lower amounts of protein in circulating CD8+ cytotoxic T lymphocytes. OBJECTIVE: The aim of this study was to investigate the presence of the -398C/T polymorphism in the perforin gene in oncohematological patients. Methods: Sixty-two patients with hematological malignancies treated at the teaching hospital of the Universidade Federal do Triângulo Mineiro were invited to participate in this study. The identification of the polymorphism was achieved by amplification using polymerase chain reaction, digestion using the TaqI enzyme and electrophoresis in 1 percent agarose gel. RESULTS: The heterozygous -398C/T polymorphism was identified in 16.7 percent patients with acute lymphoblastic leukemia, 40 percent with multiple myeloma, 50 percent with essential thrombocythemia, 14.3 percent with Hodgkin's disease, 7.7 percent with non-Hodgkin lymphoma and 33.3 percent with chronic lymphocytic leukemia. The homozygous mutant allele was identified in one mulatto individual (25 percent) with myelodysplastic syndrome. When Afro-Brazilian and Whites were analyzed together, there was a higher frequency of the -398T allele in patients than in healthy individuals (p-value = 0.0291). CONCLUSION:One patient was homozygous for the -398T allele. Based on these findings, further studies should be conducted to assess whether the presence of this polymorphism may be a risk factor for the development of hematologic malignancies.
Descritores: Polimorfismo Genético
Neoplasias Hematológicas
Polimorfismo de Nucleotídeo Único
Perforina
-Grupo com Ancestrais do Continente Africano
Grupo com Ancestrais do Continente Europeu
Limites: Seres Humanos
Masculino
Feminino
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


  2 / 6 LILACS  
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Covas, Dimas Tadeu
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Id: lil-600999
Autor: Covas, Dimas Tadeu.
Título: Perforin and hematological cancer
Fonte: Rev. bras. hematol. hemoter;33(4):254-255, 2011.
Idioma: en.
Descritores: Neoplasias Hematológicas
Perforina
Limites: Seres Humanos
Tipo de Publ: Comentário
Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Id: biblio-1016808
Autor: Mian, Agrima; Kumari, Kalpana; Kaushal, Seema; Fazal, Farhan; Kodan, Parul; Batra, Atul; Kumar, Prabhat; Baitha, Upendra; Jorwal, Pankaj; Soneja, Manish; Sharma, Mehar Chand; Biswas, Ashutosh.
Título: Fatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid
Fonte: Autops. Case Rep;9(3):e2019101, July-Sept. 2019. graf, tab, ilus.
Idioma: en.
Resumo: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in the perforin gene is present in 20%­50% of all cases of FHL. Secondary hemophagocytic lymphohistiocytosis (HLH) in association with hematological malignancies is known; however, whether mutations in HLH-associated genes can be associated with FHL and hematolymphoid neoplasms is not well documented. Also, Epstein­Barr-virus- (EBV) positive systemic T-cell lymphoproliferative disease (SE-LPD) in the setting of FHL is not clearly understood. Here, we present the case of a young boy who presented with typical features of childhood FHL harboring the perforin gene (PRF1) mutation, and had SE-LPD diagnosed on autopsy, along with evidence of recent EBV infection. The patient expired due to progressive disease. Five siblings died in the second or third decade of life with undiagnosed disease. Genetic counseling was provided to the two surviving siblings and parents, but they could not afford genetic testing. One surviving sibling has intermittent fever and is on close follow-up for possible bone marrow transplantation.
Descritores: Antígenos Nucleares do Vírus Epstein-Barr
Linfo-Histiocitose Hemofagocítica/patologia
-Autopsia
Evolução Fatal
Perforina
Linfoma
Limites: Seres Humanos
Masculino
Adolescente
Tipo de Publ: Relatos de Casos
Conferência Clínica
Responsável: BR26.7 - Serviço de Biblioteca e Documentação Científica


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Id: lil-633061
Autor: Marguet, Emilio Rogelio; Vallejo, Marisol; Olivera, Nelda Lila.
Título: Factores de virulencia de cepas de Enterococcus aisladas de quesos ovinos / Virulence factors of Enterococcus strains isolated from ovine cheese
Fonte: Acta bioquím. clín. latinoam;42(4):543-548, oct.-dic. 2008. ilus.
Idioma: es.
Resumo: Los enterococos son utilizados en la industria alimenticia como cultivos iniciadores o probióticos y constituyen contaminantes naturales de los alimentos. Sin embargo, el género Enterococcus ha cobrado relevancia como causal de infecciones nosocomiales, tendencia exacerbada por el desarrollo de resistencia antibiótica. Con el objetivo de estudiar la virulencia potencial de ocho cepas de Enterococcus faecium y de dos cepas de Enterococcus faecalis aislados de quesos ovinos se investigó la resistencia a vancomicina, la actividad hemolítica y la actividad de gelatinasa. En forma adicional se llevó a cabo la reacción en cadena de la polimerasa (PCR) para determinar la presencia de los genes cylB de la citolisina, gelE de la gelatinasa, cpd de la feromona sexual y agg de la proteína de agregación. Ninguna de las cepas mostró resistencia a la vancomicina o actividad hemolítica. El gen cylB no pudo ser identificado mediante amplificación por PCR en ninguna de las cepas estudiadas. La presencia del gen gelE fue detectada en siete cepas de E. faecium y en una cepa de E. faecalis, sin embargo en ningún caso se detectó actividad de la enzima. El gen cpd fue detectado en E. faecium ETw7 y E. faecalis ETw23, mientras que el gen agg fue hallado en las cepas de E. faecium ETw7 y E. faecalis ETw27. Estos resultados sugieren que la introducción de productos alimenticios o probióticos basados en el uso de cepas de enterococos requiere una cuidadosa evaluación sobre su seguridad.

Enterococci are used as starter and probiotic cultures in the food industry, and they occur as natural food contaminants. However, the genus Enterococcus is of increased significance as a cause of nosocomial infections, exacerbated by the development of antibiotic resistance. In order to study the potential virulence of eight Enterococcus faecium strains and two Enterococcus faecalis strains isolated from ovine cheese, vancomicine resistance, hemolytic activity and gelatinase activity were investigated. In addition, polymerase chain reaction (PCR) tests were carried out in order to determine the presence of cytolicyn gene cylB, gelatinase gene gelE, sex pheromone gene cpd and aggregation protein gene agg. None of the strains showed vancomicine resistance or hemolitic activity. Gene cylB could not be identified by PCR amplification in any of the strains studied. The presence of gene gelE was found in seven E. faecium strains and in one E. faecalis strain, however in no case was gelatinase activity detected. Gene cpd was detected in E. faecium ETw7 and E. faecalis ETw23, while gene agg was found in E. faecium ETw7 and E. faecalis ETw27. These results suggest that the introduction of food products or probiotics based on the use of enterococal strains requires careful safety evaluations.
Descritores: Queijo/microbiologia
Enterococcus/crescimento & desenvolvimento
-Argentina
Reação em Cadeia da Polimerase
Resistência a Vancomicina
Fatores de Virulência
Perforina
Responsável: AR1.2 - Instituto de Investigaciónes Epidemiológicas


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Id: biblio-889123
Autor: Joelsons, G; Domenico, T; Gonçalves, LF; Manfro, RC.
Título: Non-invasive messenger RNA transcriptional evaluation in human kidney allograft dysfunction
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;51(7):e6904, 2018. tab, graf.
Idioma: en.
Resumo: The aim of the present study was to evaluate messenger RNA expression in kidney allograft recipients. Forty-four kidney transplant recipients were evaluated up to three months after grafting. After transplantation, peripheral blood samples were drawn sequentially for real-time polymerase chain reaction analyses of perforin and TIM-3 genes. Biopsies were obtained to evaluate acute graft dysfunction and interpreted according to the Banff classification. Eight patients presented episodes of acute rejection. Recipients with rejection had significantly higher levels of TIM-3 mRNA transcripts compared to those without rejection (median gene expression 191.2 and 36.9 mRNA relative units, respectively; P<0.0001). Also, perforin gene expression was higher in patients with rejection (median gene expression 362.0 and 52.8 mRNA relative units; P<0.001). Receiver operating characteristic curves showed that the area under the curve (AUC) for the TIM-3 gene was 0.749 (95%CI: 0.670-0.827). Perforin gene mRNA expression provided an AUC of 0.699 (95%CI: 0.599 to 0.799). Overall accuracy of gene expression was 67.9% for the TIM-3 gene and 63.6% for the perforin gene. Combined accuracy was 76.8%. Negative predictive values were 95.3% for the TIM-3 gene, 95.5% for the perforin gene, and 95.4% in the combined analyses. Gene expression was significantly modulated by rejection treatment decreasing 64.1% (TIM-3) and 90.9% (perforin) compared to the median of pre-rejection samples. In conclusion, the longitudinal approach showed that gene profiling evaluation might be useful in ruling out the diagnosis of acute rejection and perhaps evaluating the efficacy of treatment.
Descritores: Rejeição de Enxerto/sangue
Receptor Celular 2 do Vírus da Hepatite A/sangue
Transplante de Rim/efeitos adversos
Perforina/sangue
-Aloenxertos
Biomarcadores/sangue
Expressão Gênica
Rejeição de Enxerto/diagnóstico
Reação em Cadeia da Polimerase em Tempo Real
Transcrição Genética
Limites: Seres Humanos
Masculino
Feminino
Adulto
Meia-Idade
Responsável: BR1.1 - BIREME


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Id: lil-548437
Autor: Anon.
Título: Avanços em imunologia. Perfurina: uma arma letal dos linfócitos T assassinos
Fonte: Rev. bras. anal. clin;21(4):126-127, 1989.
Idioma: pt.
Descritores: Alergia e Imunologia
Perforina
Responsável: BR13.1 - NDC - Núcleo de Documentação



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