Diagnóstico da infecção urogenital por Chlamydia trachomatis = Diagnosis methods’ for Chlamydia trachomatis genital infection

Objetivos: Revisar os diferentes métodos para o diagnóstico de infecção urogenital por Chlamydia trachomatis. Material e métodos: Revisão de literatura médica especializada. Conclusões: Na escolha do método diagnóstico deve-se considerar a sensibilidade e especificidade da técnica pretendida, a individualidade do caso e a adequação aos recursos disponíveis. O exame cultural para Chlamydia trachomatis constitui-se no teste padrão, por apresentar a melhor especificidade na detecção da infecção. Entretanto, estudos recentes sugerem que as técnicas de amplificação de ácido nucléico têm demonstrado maior sensibilidade e especificidade semelhante ao teste cultura

Prevalência de anticorpos IgG para rubéola em gestantes do Hospital São Lucas da PUCRS, Porto Alegre, Brasil = Prevalence of rubella IgG antibodies in pregnant women of São Lucas Hospital of PUCRS, Porto Alegre, Brazil

Objetivos: determinar a prevalência de imunoglobulina IgG para o vírus da rubéola em gestantes acompanhadas no Hospital São Lucas da PUCRS, Porto Alegre, Brasil. Métodos: foi realizado um estudo transversal no período de abril a junho de 2004. Foram selecionadas 577 pacientes do ambulatório de pré-natal de baixo risco e do centro obstétrico. Os anticorpos IgG para rubéola foram pesquisados, no sangue das gestantes, por uma técnica de imunoensaio disponível comercialmente. Resultados: a prevalência dos anticorpos para rubéola nas 577 pacientes estudadas foi de 95% (IC 95%: 93%-97%). Conclusões: este estudo permite conhecer a prevalência da imunidade contra o vírus da rubéola em gestantes, ajudando a lidar com um problema brasileiro de saúde pública subestimado, que é a síndrome da rubéola congênita. Novas pesquisas são necessárias em outras áreas do país, pois a prevalência de imunidade pode variar de acordo com as regiões estudadas e nortear medidas de saúde pública que previnam surtos de rubéol

Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications

Background & aims: Hepatoblastoma (HB) is a rare disease. Nevertheless, it is the predominant pediatric liver cancer, with limited therapeutic options for patients with aggressive tumors. Herein, we aimed to uncover the mechanisms of HB pathobiology and to identify new biomarkers and therapeutic targets in a move towards precision medicine for patients with advanced HB. Methods: We performed a comprehensive genomic, transcriptomic and epigenomic characterization of 159 clinically annotated samples from 113 patients with HB, using high-throughput technologies. Results: We discovered a widespread epigenetic footprint of HB that includes hyperediting of the tumor suppressor BLCAP concomitant with a genome-wide dysregulation of RNA editing and the overexpression of mainly non-coding genes of the oncogenic 14q32 DLK1-DIO3 locus. By unsupervised analysis, we identified 2 epigenomic clusters (Epi-CA, Epi-CB) with distinct degrees of DNA hypomethylation and CpG island hypermethylation that are associated with the C1/C2/C2B transcriptomic subtypes. Based on these findings, we defined the first molecular risk stratification of HB (MRS-HB), which encompasses 3 main prognostic categories and improves the current clinical risk stratification approach. The MRS-3 category (28%), defined by strong 14q32 locus expression and Epi-CB methylation features, was characterized by CTNNB1 and NFE2L2 mutations, a progenitor-like phenotype and clinical aggressiveness. Finally, we identified choline kinase alpha as a promising therapeutic target for intermediate and high-risk HBs, as its inhibition in HB cell lines and patient-derived xenografts strongly abrogated tumor growth. Conclusions: These findings provide a detailed insight into the molecular features of HB and could be used to improve current clinical stratification approaches and to develop treatments for patients with HB. Lay summary: Hepatoblastoma is a rare childhood liver cancer that has been understudied. We have used cutting-edge technologies to expand our molecular knowledge of this cancer. Our biological findings can be used to improve clinical management and pave the way for the development of novel therapies for this cancer

Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications

Background & Aims: Hepatoblastoma (HB) is a rare disease. Nevertheless, it is the predominant pediatric liver cancer, with limited therapeutic options for patients with aggressive tumors. Herein, we aimed to uncover the mechanisms of HB pathobiology and to identify new biomarkers and therapeutic targets in a move towards precision medicine for patients with advanced HB. Methods: We performed a comprehensive genomic, transcriptomic and epigenomic characterization of 159 clinically annotated samples from 113 patients with HB, using high-throughput technologies. Results: We discovered a widespread epigenetic footprint of HB that includes hyperediting of the tumor suppressor BLCAP concomitant with a genome-wide dysregulation of RNA editing and the overexpression of mainly non-coding genes of the oncogenic 14q32 DLK1-DIO3 locus. By unsupervised analysis, we identified 2 epigenomic clusters (Epi-CA, Epi-CB) with distinct degrees of DNA hypomethylation and CpG island hypermethylation that are associated with the C1/C2/C2B transcriptomic subtypes. Based on these findings, we defined the first molecular risk stratification of HB (MRS-HB), which encompasses 3 main prognostic categories and improves the current clinical risk stratification approach. The MRS-3 category (28%), defined by strong 14q32 locus expression and Epi-CB methylation features, was characterized by CTNNB1 and NFE2L2 mutations, a progenitor-like phenotype and clinical aggressiveness. Finally, we identified choline kinase alpha as a promising therapeutic target for intermediate and high-risk HBs, as its inhibition in HB cell lines and patient-derived xenografts strongly abrogated tumor growth. Conclusions: These findings provide a detailed insight into the molecular features of HB and could be used to improve current clinical stratification approaches and to develop treatments for patients with HB. Lay summary: Hepatoblastoma is a rare childhood liver cancer that has been understudied. We have used cutting-edge technologies to expand our molecular knowledge of this cancer. Our biological findings can be used to improve clinical management and pave the way for the development of novel therapies for this cancer