RESUMO
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome.
RESUMO
Adherence index, superoxide and TNF-alpha production in monocytes, with or without tuftsin treatment, were investigated in hepatosplenic schistosomiasis mansoni bearers with splenectomy with or without autologous implantation of spleen tissue. Three groups were evaluated: Healthy volunteers control group (CG) (n=12); Splenectomy with seft auto-transplant AG (n=18) and Splenectomy without auto-transplant WAG (n=9). Adherence index and TNF-alpha did not differ among the groups. Superoxide production was similar in CG and AG, in the 1st hour after cell stimulation. SP was larger in each hour time in CG and AG groups as compared WAS group. TT recovered normal pattern of SP in AG comparable with levels found in CG, with increase from the 1st to 2nd hour. However, TT did not alter SP in WAG, which remained reduced in all time points. Autologous implantation of spleen tissue seems to contribute for recovery and maintenance of the evaluated immunological reactions, which might be important in response to infections.
Assuntos
Hepatopatias Parasitárias/cirurgia , Monócitos/fisiologia , Esquistossomose mansoni/cirurgia , Baço/transplante , Esplenopatias/cirurgia , Adolescente , Adulto , Estudos de Casos e Controles , Adesão Celular/imunologia , Feminino , Humanos , Hepatopatias Parasitárias/imunologia , Hepatopatias Parasitárias/parasitologia , Masculino , Monócitos/imunologia , Esquistossomose mansoni/imunologia , Baço/imunologia , Esplenectomia , Esplenopatias/imunologia , Esplenopatias/parasitologia , Superóxidos/imunologia , Transplante Autólogo/métodos , Resultado do Tratamento , Tuftsina/administração & dosagem , Fator de Necrose Tumoral alfa/biossínteseRESUMO
Investigamos em portadores de esquistossomose hepatoesplênica após esplenectomia com ou sem auto-implante esplênico: índice de aderência, produção de superóxido (SP) e de TNF-alfa em monócitos, tratados ou não com tuftsina. Avaliamos três grupos: voluntários sadios CG (grupo controle) (n=12); esplenectomizados com auto-implante AG (n=18) e esplenectomizados sem auto-implante WAG (n=9). índice de aderência e TNF-alfa não diferiram entre os grupos. SP foi semelhante em CG e AG na 1ª hora após estimulação celular. SP foi maior em todos intervalos de tempo nos grupos CG e AG, comparados ao WAG. O tratamento com tuftsina recuperou o padrão de normalidade de SP em AG, com aumento da 1ª para a 2ª hora nos níveis do CG. O tratamento com tuftsina não alterou SP em WAG, permanecendo reduzida em todos intervalos. O auto-implante esplênico parece recuperar e manter os parâmetros imunológicos avaliados, que têm participação importante na resposta do hospedeiro às infecções.