ABSTRACT
OBJECTIVE: To determine the spectrum of MEN1 mutations in Portuguese kindreds, and identify mutation-carriers. PATIENTS, DESIGN AND RESULTS: Six unrelated MEN1 families were studied for MEN1 gene mutations by single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the coding region and exon-intron boundaries of the MEN1 gene. These methods identified 4 different heterozygous mutations in four families: two mutations are novel (mt 1539 delG and mt 655 ims 11 bp) and two have been previously observed (mt 735 del 46p and mt 1656 del C) all resulting in a premature stop codon. In the remaining two families, in whom no mutations or abnormal MEN1 transcripts were detected, segregation studies of the 5' intragenic marker D11S4946 and codon 418 polymorphism in exon 9 revealed two large germline deletions of the MEN1 gene. Southern blot and tumour loss of heterozygosity analysis confirmed and refined the limits of these deletions, which spanned the MEN1 gene at least from: exon 7 to the 3' untranslated region, in one family, and the 5' polymorphic site D11S4946 to exon 9 (obliterating the initiation codon), in the other family. Twenty-six mutant-gene carriers were identified, 6 of which were asymptomatic. CONCLUSIONS: These results emphasize the importance of the detection of MEN1 germline deletions in patients who do not have mutations of the coding region. Important clues indicating the presence of such deletions may be obtained by segregation studies using the intragenic polymorphisms D11S4946 and at codon 418. The detection of these mutations will help in the genetic counselling of clinical management of the MEN1 families in Portugal.
Subject(s)
Germ-Line Mutation , Multiple Endocrine Neoplasia Type 1/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , DNA Mutational Analysis , DNA, Neoplasm/genetics , Female , Gene Deletion , Heterozygote , Humans , Male , Middle Aged , Pedigree , Phenotype , Polymorphism, Restriction Fragment Length , Polymorphism, Single-Stranded Conformational , Portugal/ethnologyABSTRACT
Os autores fazem consideracoes sobre 45 pacientes que sofreram intervencoes cirurgicas na via biliar principal em decorrencia de afeccoes benignas da regiao, no periodo compreendido entre maio de 1976 e janeiro de 1980. As indicacoes para a abertura e exploracao do hepatocoledoco sao reavaliadas. Chama-se a atencao para a identificacao do tipo de calculo encontrado na via biliar principal com determinante da escolha da tecnica operatoria a ser adotada para cada caso
Subject(s)
CholelithiasisABSTRACT
Os autores apresentam um estudo prospectivo em 62 pacientes portadores de megaesofago tratados com cardioplastia, pela tecnica de Thal-Hatafuku por via toracica.O acesso foi feito pelo 7o. espaco internacional esquerdo e os tempos cirurgicos sao os mesmos descritos por estes autores em trabalho publicado em 1972.Apresentaram resultados excelente e bom 82,1% dos casos As complicacoes surgidas foram as comumente encontradas em operacoes de igual porte Nao houve deiscencia ou obtito.A dilatacao esofagica reduziu-se em 52% do tamanho inicial apos um ano. Os autores concluem ser a cardioplastia de Thal-Hatafuku uma tecnica boa e segura no tratamento cirurgico do megaesofago
