Adenomas diagnosed before aged 40 years presented microsatellite instability only in patients from families with clinical criteria for Lynch syndrome. According to our results, to detect new cases of Lynch syndrome, family history is more important than microsatellite instability testing in adenomas from young patients.

These observations suggest that deletion of the 5' exons of COL4A6 and of the common promoter of the COL4A5 and COL4A6 genes is not essential for the development of leiomyomatosis in patients with ATS, and that COL4A5_COL4A6 deletions extending into COL4A6 exon 3 may not result in ATS-DL.

No abstract

BACKGROUND Hereditary nonpolyposis colorectal carcinoma (HNPCC) significantly raises the risk of developing colorectal carcinoma (CRC) and other extracolonic tumors. It is defined by the Amsterdam Criteria and is associated with germline mutations in mismatch repair genes, primarily MLH1 and MSH2. The objectives of the current study were to evaluate the presence of CRC (Type I) and other extracolonic tumors (Type II) in families with HNPCC and to analyze the findings for correlations with germline mutations in the MLH1 and MSH2 genes. METHODS Seventy families with an HNPCC diagnosis were analyzed. Denaturing gradient gel electrophoresis and direct sequencing were used for germline mutation analysis in the MLH1 and MSH2 genes. RESULTS Forty‐three of 70 families (61%) presented with HNPCC Type II. In 21 of 30 families that had a complete genetic diagnosis, 16 pathogenic germline mutations (7 MLH1 mutations and 9 MSH2 mutations) and 5 mutations of unknown pathogenecity (all MLH1 mutations) were found. In the remaining nine families, no mutations were detected. Unequivocally pathogenic mutations were far more common in families with HNPCC Type II compared with families that had CRC only (P = 0.01). Families with endometrial carcinoma presented with the greatest probability of mutational detection (P = 0.005). MLH1 was only gene affected in families with HNPCC Type I, whereas mutations in both MLH1 and MSH2 were found in families with HNPCC Type II (P = 0.04). However, the MSH2 gene was more frequently involved in families with HNPCC in which endometrial carcinoma was present (P = 0.005). CONCLUSIONS CRC and endometrial carcinoma were associated with a greater probability of detecting pathogenic mutations in mismatch repair genes, with MSH2 involvement predominating. The results support specific mutational screening strategies, based on observed phenotypes, for families with HNPCC. Cancer 2004. © 2004 American Cancer Society.

O objetivo deste trabalho foi de avaliar o perfil das enzimas digestivas no intestino anterior de beta (Bettas splendens) e o quinguio (Carassius auratus) alimentados e privados de alimentação. Os peixes foram alojados em um mesmo local climatizado a 27 oC, submetidos a fotoperíodo de 12 horas, alimentados duas vezes ao dia por 21 dias. Foram utilizados 40 peixes betas machos com peso de 1,94±0,10 g e, alojados individualmente em aquários de três litros sendo um grupo foi submetido ao jejum, e outro recebeu alimentação até a saciedade (ração comercial extrusada - 35% PB). Foram utilizados 40 peixes quinguios com peso de 11,43±3,28 g. sendo mantidos em aeração constante, também subdividido em dois grupos alojados em oito aquários de 20 L em sistema estático, sendo um grupo submetido ao jejum e outro recebeu alimentação até a saciedade, (ração comercial extrusada - 32% PB). Os peixes betas ocorreram um aumento na atividade de lipase, amilase e protease para o tratamento com que recebeu alimentação e uma redução da lipase em tratamento jejum. O experimento com quinguios atividade da lipase e amilase são responsivas a presença de alimento no trato digestório e a protease é uma enzima constitutiva nesta espécie. Para os peixes betas as enzimas digestivas possuem um caráter indutivo e nos peixes quinguios a amilase e lipase digestiva apresentam um caráter indutivo enquanto a protease se apresenta constitutiva.