Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 6 de 6
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Radiol Case Rep ; 15(12): 2672-2676, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33101564

RESUMO

Osteoid osteomas are benign, typically intracortical lesions most often affecting the diaphyses of long bones. We describe a case involving a 26-year-old male laborer who presented with the insidious onset of ulnar-sided wrist pain. He was diagnosed with and successfully treated with surgical excision for an osteoid osteoma involving the hook of the hamate.

4.
Case Rep Pathol ; 2015: 806310, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25922778

RESUMO

Long-term exposure of colonic mucosa to urinary content and its association with increased risk of infection, mechanical and biochemical irritation, and malignancy have been described in the literature. Existing case reports and studies depict the low but distinct risk of malignancy in gastrointestinal segments which come in contact with urinary content as a result of surgical correction of urinary tract abnormalities. However, these reports are largely limited to colonic adenocarcinoma and urothelial cell carcinoma. Late urointestinal carcinoma in patients with ileal incorporation into the urinary tract has also been reported. To the best of our knowledge, however, there is only one case report documenting neuroendocrine (NE) cell hyperplasia in colonic mucosa after long-term cystoplasty. Our case is the first to describe microcarcinoids and diffuse NE hyperplasia occurring in a patient with congenital anorectal anomalies, resulting in long-term exposure of colonic mucosa to fecal stream and urinary content. This case, in conjunction with the reported cases in the literature, raises the distinct possibility of an association between exposure of colonic mucosa to urine and long-term development of malignancy, including NE neoplasms.

5.
J Mol Diagn ; 16(5): 481-5, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25132480

RESUMO

Solid tumor genotyping has become standard of care for the characterization of proto-oncogene mutational status, which has traditionally been accomplished with Sanger sequencing. However, companion diagnostic assays and comparable laboratory-developed tests are becoming increasingly popular, such as the cobas 4800 BRAF V600 Mutation Test and the INFINITI KRAS-BRAF assay, respectively. This study evaluates and validates the analytical performance of the INFINITI KRAS-BRAF assay and compares concordance of BRAF status with two reference assays, the cobas test and Sanger sequencing. DNA extraction from FFPE tissue specimens was performed followed by multiplex PCR amplification and fluorescent label incorporation using allele-specific primer extension. Hybridization to a microarray, signal detection, and analysis were then performed. The limits of detection were determined by testing dilutions of mutant BRAF alleles within wild-type background DNA, and accuracy was calculated based on these results. The INFINITI KRAS-BRAF assay produced 100% concordance with the cobas test and Sanger sequencing and had sensitivity equivalent to the cobas assay. The INFINITI assay is repeatable with at least 95% accuracy in the detection of mutant and wild-type BRAF alleles. These results confirm that the INFINITI KRAS-BRAF assay is comparable to traditional sequencing and the Food and Drug Administration-approved companion diagnostic assay for the detection of BRAF mutations.


Assuntos
Análise Mutacional de DNA/métodos , Testes Genéticos/métodos , Mutação , Neoplasias/diagnóstico , Neoplasias/genética , Proteínas Proto-Oncogênicas B-raf/genética , Linhagem Celular Tumoral , Técnicas de Genotipagem , Humanos , Reação em Cadeia da Polimerase/métodos , Proto-Oncogene Mas , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...