RESUMO
A biopsy-proven case of epithelial-type hepatoblastoma in a 12 year old Ethiopian boy who presented with an epigastric mass, jaundice, and a cutaneous biliary fistula is described. The literature on hepatoblastoma is reviewed, and therapy discussed.
Assuntos
Hemangiossarcoma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Criança , Hemangiossarcoma/mortalidade , Hemangiossarcoma/terapia , Humanos , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/terapia , MasculinoRESUMO
Lungs are the central organ affected and targeted by Mycobacterium tuberculosis and immune processes in the lung are of critical importance in the pathogenesis of tuberculosis. A major lung defense against invading pathogens is provided by surfactant protein A, a multi-chain protein encoded by the SFTPA1 and SFTPA2 genes. Here, we investigated polymorphisms in the SFTPA1 and SFTPA2 genes for association with tuberculosis in 181 Ethiopian families comprising 226 tuberculosis cases. Four polymorphisms, SFTPA1 307A, SFTPA1 776T, SFTPA2 355C, and SFTPA2 751C, were associated with tuberculosis (P=0.00008; P=0.019, P=0.029 and P=0.042, respectively). Additional subgroup analysis in male, female and more severely affected patients provided evidence for SFTPA1/2-covariate interaction. Finally, out of five intragenic haplotypes identified in the SFTPA1 gene and nine identified in the SFTPA2 gene, 1A(3) was most significantly associated with tuberculosis susceptibility (P=0.026). These findings suggest that SFTPA1 and SFTPA2 modify the risk of tuberculosis susceptibility and that this risk is influenced by additional covariates.
Assuntos
Predisposição Genética para Doença , Polimorfismo Genético , Proteína A Associada a Surfactante Pulmonar/genética , Tuberculose/genética , Adolescente , Adulto , Criança , Progressão da Doença , Etiópia , Família , Feminino , Frequência do Gene , Testes Genéticos , Humanos , MasculinoRESUMO
The recognition of a panel of recombinant Mycobacterium leprae antigens by T cells and B cells from 29 borderline tuberculoid/tuberculoid (BT/TT) and 18 lepromatous leprosy (LL) patients and from 21 healthy controls (HC) in leprosy-endemic regions of Ethiopia was examined. All 11 antigenic molecules tested (including M. leprae hsp 10, hsp18, hsp65 and several novel M. leprae antigens) were shown to be recognized by T cells, but clear quantitative differences existed between reactivities induced by individual antigens. Similar quantitative differences were observed when antibody responses to hsp10 and hsp65 antigens were determined. No associations were found between the antigen-specific responses and the subject status of either BT/TT and LL patients or HC. Fifteen percent of the patients who were nonresponsive to sonicates of M. leprae showed significant T-cell responses to one or more individual M. leprae antigens. This indicates that M. leprae constituents other than the proteins tested are responsible for the M. leprae-specific nonresponsiveness in these patients, which may be exploited for the design of vaccines or immunotherapeutic modalities aimed at inducing M. leprae-specific immunity in nonresponders.