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Browsing by Author "Cardoso, H"

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  • A Endocrinologia em Portugal - Censo 2016. Direção do Colégio de Endocrinologia e Nutrição da Ordem dos Médicos
    Publication . Guimarães, J; Afonso, A; Carvalho, D; Marques, AP; Martins, T; Mascarenhas, MR; Pereira, C; Rodrigues, D; Saraiva, C; Cardoso, H
    Introdução: A Direção do Colégio de Endocrinologia e Nutrição da Ordem dos Médicos realizou um inquérito nacional em setembro de 2016, a todos os serviços de Endocrinologia, Diabetes e Metabolismo dos hospitais do Serviço Nacional de Saúde e uma versão simplificada do mesmo foi enviada a todos os endocrinologistas a trabalhar em Portugal e inscritos no colégio. Material e Métodos: O censo inclui dados organizacionais e de recursos humanos relativos ao fim do ano de 2015. Registou 107 respostas individuais e 27 serviços. Resultados: O ratio de endocrinologistas por 100 000 habitantes era de 1,4, muito inferior a outros países europeus (varia de 2 a 4), que resulta numa carência grave de serviços em algumas zonas do País e em piores indicadores de qualidade. Discussão: Estes dados indicam que devem ser implementadas medidas para aumentar o número de endocrinologistas e serviços em Portugal. Conclusão: Nos últimos anos, o número de internos tem vindo a aumentar, o que vai permitir melhorar esta situação.
    2017-09-29Journal article Open access Show more
  • Mutational Analysis of Portuguese Families with Multiple Endocrine Neoplasia Type 1 Reveals Large Germline Deletions
    Publication . Cavaco, B; Domingues, R; Bacelar, MC; Cardoso, H; Barros, L; Gomes, L; Ruas, MMA; Agapito, A; Garrão, A; Pannett, A; Silva, JL; Sobrinho, LG; Thakker, RV; Leite, V
    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.
    2002-04Journal article Open access Show more
  • Small Bowel Enteroscopy - A Joint Clinical Guideline by the Spanish and Portuguese Small-Bowel Study Groups
    Publication . Pérez-Cuadrado Robles, E; Pinho, R; González-Suárez, B; Mão-de-Ferro, S; Chagas, C; Esteban Delgado, P; Carretero, C; Figueiredo, P; Rosa, B; García-Lledó, J; Nogales, O; Ponte, A; Andrade, P; Juanmartiñena-Fernández, JF; San-Juan-Acosta, M; Lopes, S; Prieto-Frías, C; Egea Valenzuela, J; Caballero, N; Valdivieso-Cortázar, E; Cardoso, H; Gálvez, C; Almeida, N; Borque Barrera, P; Gómez Rodríguez, BJ; Sánchez Ceballos, FL; Bernardes, C; Alonso-Aguirre, P; Argüelles Arias, F; Mascarenhas Saraiva, M
    The present evidence-based guidelines are focused on the use of device-assisted enteroscopy in the management of small-bowel diseases. A panel of experts selected by the Spanish and Portuguese small-bowel study groups reviewed the available evidence focusing on the main indications of this technique, its role in the management algorithm of each indication, and its diagnostic and therapeutic yield. A set of recommendations was issued accordingly.
    2020-04Journal article Open access Show more