Base de dados : LILACS
Pesquisa : D12.776.331 [Categoria DeCS]
Referências encontradas : 2 [refinar]
Mostrando: 1 .. 2   no formato [Detalhado]

página 1 de 1

  1 / 2 LILACS  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-755821
Autor: Gu, Quan; Li, Xunde; Qu, Pinghua; Hou, Shuiping; Li, Juntao; Atwill, Edward R.; Chen, Shouyi.
Título: Characterization of Francisella species isolated from the cooling water of an air conditioning system
Fonte: Braz. j. microbiol;46(3):921-927, July-Sept. 2015. tab, ilus.
Idioma: en.
Projeto: Guangzhou Science and Technology Program; . Key Medicine Discipline Construction of Guangzhou Municipality.
Resumo:

Strains of Francisella spp. were isolated from cooling water from an air conditioning system in Guangzhou, China. These strains are Gram negative, coccobacilli, non-motile, oxidase negative, catalase negative, esterase and lipid esterase positive. In addition, these bacteria grow on cysteine-supplemented media at 20 °C to 40 °C with an optimal growth temperature of 30 °C. Analysis of 16S rRNA gene sequences revealed that these strains belong to the genus Francisella. Biochemical tests and phylogenetic and BLAST analyses of 16S rRNA, rpoB and sdhA genes indicated that one strain was very similar to Francisella philomiragia and that the other strains were identical or highly similar to the Francisella guangzhouensis sp. nov. strain 08HL01032 we previously described. Biochemical and molecular characteristics of these strains demonstrated that multiple Francisella species exist in air conditioning systems.

.
Descritores: Ar Condicionado
Proteínas de Bactérias/genética
RNA Polimerases Dirigidas por DNA/genética
Francisella
Flavoproteínas/genética
Microbiologia da Água
-Sequência de Bases
China
DNA Bacteriano/genética
DNA Ribossômico/genética
Francisella/classificação
Francisella/genética
Francisella/isolamento & purificação
Dados de Sequência Molecular
Tipagem Molecular
Filogenia
/genética
RNA, RIBOSOMAL, ABNORMALITIES, MULTIPLES/genética
Análise de Sequência de DNA
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  2 / 2 LILACS  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
Id: lil-632376
Autor: Wolff, Carlos; Frank, Jorge; Poblete-Gutiérrez, Pamela.
Título: Porfiria variegata en Chile: identificación de mutaciones en el gen protoporfirinógeno oxidasa y su implicancia diagnóstica / Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile
Fonte: Rev. invest. clín;58(4):289-295, jul.-ago. 2006. ilus, tab.
Idioma: es.
Projeto: Fundación para Estudios Biomédicos Avanzados (FEBA), Facultad de Medicina, Universidad de Chile; . GIS-Institut des Maladies rares: Network on rare diseases de la European Porphyria Initiative (EPI).
Resumo: Variegate porphyria (VP) results from a hereditary deficiency of protoporphyrinogen oxidase (PPOX) that is transmitted in an autosomal dominan fashion. The diagnosis is based on the clinical symptoms and is confirmed biochemically. Sometimes, however, these diagnostic tools reveal limitations in establishing the definitive diagnosis of the prevailing type of acute porphyria. In these patients, molecular genetic analyses can be useful. We performed molecular genetic studies in 13 Chilean families by PCR amplification of the PPOX gene, conformation sensitive gel electrophoresis, and automated DNA sequencing. In five symptomatic patients from different families, respectively, the biochemical data confirmed the diagnosis of VP. In seven other families, however, the biochemical studies were not conclusive. Furthermore, the original biochemical analysis in one clinically severely affected patient from a further family even suggested the diagnosis of erythropoietic protoporphyria (EPP). Beside the respective index patients, we studied 78 asymptomatic family members and 50 healthy, unrelated individuals for control purposes. In five families, the previous diagnosis of VP could be confirmed genetically. Further, half of the asymptomatic relatives revealed a mutation in the PPOX gene, consisting of three missense mutations and two deletion mutations. Mutation R168H that had been already described previously in German VP families was found in a Chilean family of German origin. Further, two novel missense mutations, designated L74P and G232S, could be detected. In four Chilean families, we found the deletion 1330deICT that had also been previously described in three Swedish VP families. The second deletion, 1239delTACAC, has not been described anywhere else but Chile and could be identified in seven families. One patient who was initially diagnosed with EPP turned out to be a compound heterozygote for mutations on both alíeles of the PPOX gene. In conclusion, our molecular genetic analyses unequivocally confirmed the diagnosis of VP in seven families who originally had revealed inconclusive biochemical data. Further, early genetic analysis allows for the identification of asymptomatic mutation carriers, thereby offering the possibility of adequate counselling and the prevention of potentially life-threatening acute porphyric attacks.

La porfiria variegata (PV), enfermedad de origen genético con forma de herencia autosómica dominante, se debe a deficiencia en la actividad protoporfirinógeno oxidasa (PPOX). Su diagnóstico se basa en antecedentes clínicos y se confirma con análisis bioquímicos. Éstos, en algunos casos, pueden presentar limitaciones para establecer el diagnóstico definitivo de la variedad de porfiria aguda, situación en que el estudio genético molecular puede resultar útil. Se efectuó estudio genético en trece familias chilenas usando amplificación del gen PPOX por PCR, electroforesis conformacional y secuenciación automática de DNA. Cinco de estas familias incluían pacientes índices sintomáticos con diagnóstico bioquímico establecido de PV; otras siete familias incluían pacientes índices con estudio bioquímico no concluyente de la variedad de porfiria aguda y, finalmente, una familia con diagnóstico previo de protoporfiria eritropoyética (PPE). Además, se estudiaron 78 familiares asintomáticos y 50 personas sanas, no relacionadas, como controles. En cinco familias el estudio genético confirmó el diagnóstico bioquímico previo de PV. El 50% de los familiares asintomáticos resultaron ser portadores de una mutación en el gen PPOX. Se identificaron tres mutaciones por sustitución de bases: la R168H, descrita en familias de origen alemán y dos nuevas mutaciones, designadas L74P y G232S. También se identificaron dos mutaciones por deleción de bases designadas 1330delCT y la 1239delTACAC. La primera, que había sido descrita previamente en tres familias suecas, se encontró en cuatro familias chilenas. La segunda se encontró en siete familias y no ha sido descrita previamente. El estudio genético permitió mostrar que un paciente que originalmente fue diagnosticado con PPE correspondía a un heterocigoto compuesto para dos mutaciones en el gen PPOX. En conclusión, los estudios moleculares permitieron confirmar el diagnóstico de PV en cinco familias, efectuar diagnóstico de PV en familias en las cuales los datos bioquímicos no eran concluyentes, corregir el diagnóstico original en una familia e identificar portadores asintomáticos entre los familiares de los pacientes índices. Los estudios genéticos moleculares ayudan a realizar un adecuado consejo genético a pacientes y familiares y hace posible practicar prevención de las crisis agudas de porfiria, las que son potencialmente mortales.
Descritores: Porfiria Variegada/genética
Protoporfirinogênio Oxidase/genética
-Chile
Flavoproteínas/genética
Predisposição Genética para Doença
Mutação
Proteínas Mitocondriais/genética
Porfiria Variegada/diagnóstico
Porfiria Variegada/enzimologia
Limites: Humanos
Tipo de Publ: Estudo Comparativo
Responsável: MX1.1 - CENIDSP - Centro de Información para Decisiones en Salud Pública



página 1 de 1
   


Refinar a pesquisa
  Base de dados : Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde