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| Ogusku,Mauricio Morishi; Sadahiro,Aya; Hirata,Mário Hiroyuki; Hirata,Rosário D. C.; Zaitz,Clarisse; Salem,Júlia Ignez. |
| Seeking to improve the laboratory diagnosis of Cutaneous Tuberculosis, a study was carried out on the application of PCR technique in macerated, decontaminated(with 4% H2SO4 for elimination of normal microbiot), neutralized (with 4% NaOH)biopsies tissues samples stored at -20ºC. Of the 37 samples submitted for study, 16.22% were positive by microscopy for acid-fast bacilli (concentrated method) and in 43.24% the Mycobacterium tuberculosis was isolated in Löwenstein-Jensen medium. Using a M. tuberculosis complex specific primer set (gene sequence for 16S rDNA), the mycobacterial DNA was detected in 24.32% of the biopsies. The sensitivity and specificity of PCR were 43.7% and 90.4%, respectively. Due to low sensitivity and discrepant results between... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mycobacterium tuberculosis; Cutaneous tuberculosis; Polymerase Chain Reaction (PCR); Laboratory diagnosis. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822003000200015 |
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| Ribeiro,Georgina Severo; Marchiori,Paulo Eurípedes; Hirata,Mário Hiroyuki; Rebecchi,Ivanise; Ozaki,Adriana Natsue; Nagai,Maria Aparecida; Santos,Mariana Lopes dos; Oliveira,Raimundo Antonio Gomes; Barretto,Orlando Cesar de Oliveira. |
| Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Acute intermittent porphyria; Hydroxymethylbilane synthase; Porphobilinogen deaminase; HMBS gene. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600003 |
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