Browsing by Author "Silva, JL"
Now showing 1 - 3 of 3
Results Per Page
Sort Options
- Mutational Analysis of Portuguese Families with Multiple Endocrine Neoplasia Type 1 Reveals Large Germline DeletionsPublication . 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, VOBJECTIVE: 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.
- Neurofibromatose de Von Recklinghausen e Feocromocitoma Maligno: Apresentação de Três CasosPublication . Ventura, A; Ribeiro, J; Murinello, A; Amado, L; Morgado, A; Guerra, C; Murinello, F; Silva, JL; Mota, JAA neurofibromatose é uma doença que pode afectar todos os órgãos. As suas manifestações clínicas podem ser muito variáveis e associam-se-lhe, frequentemente, neoplasias. é o caso do feocromositoma, que na sua forma benigna, coexiste em 10 % dos casos; contudo, a descrição da associação com a forma maligna é uma raridade, o que justifica o interesse da divulgação da nossa experiência. Salientamos, no entanto, que o feocromocitoma não é a única causa de hipertensão na doença de Von Recklinghausen.
- Portuguese Recommendations for the Use of Biological and Targeted Synthetic Disease-Modifying Antirheumatic Drugs in Patients with Rheumatoid Arthritis - 2020 UpdatePublication . Fernandes, BM; Guimarães, F; Almeida, DE; Neto, A; Tavares-Costa, J; Roxo Ribeiro, A; Quintal, A; Pereira, JP; Silva, L; Nóvoa, TS; Faustino, A; Vaz, C; Khmelinskii, N; Samões, B; Dourado, E; Silva, JL; Barcelos, A; Mariz, E; Guerra, M; Santos, MJ; Silvério-António, M; Teixeira, RL; Romão, VC; Santos, H; Santos-Faria, D; Azevedo, S; Rodrigues, A; Dias, JM; Lopes, C; Pinto, P; Couto, M; Miranda, LC; Bernardo, A; Cruz, M; Teixeira, F; Mourão, AF; Neto, A; Teixeira, V; Cordeiro, A; Barreira, S; Inês, LS; Capela, S; Sepriano, A; Canhão, H; Fonseca, JE; Duarte, C; Bernardes, MObjective: To update the recommendations for the treatment of rheumatoid arthritis (RA) with biological and targeted synthetic disease-modifying antirheumatic drugs (bDMARDs and tsDMARDs), endorsed by the Portuguese Society of Rheumatology (SPR). Methods: These treatment recommendations were formulated by Portuguese rheumatologists taking into account previous recommendations, new literature evidence and consensus opinion. At a national meeting, in a virtual format, three of the ten previous recommendations were re-addressed and discussed after a more focused literature review. A first draft of the updated recommendations was elaborated by a team of SPR rheumatologists from the SPR rheumatoid arthritis study group, GEAR. The resulting document circulated among all SPR rheumatologists for discussion and input. The level of agreement with each of all the recommendations was anonymously voted online by all SPR rheumatologists. Results: These recommendations cover general aspects such as shared decision, treatment objectives, systematic assessment of disease activity and burden and its registry in Reuma.pt. Consensus was also achieved regarding specific aspects such as initiation of bDMARDs and tsDMARDs, assessment of treatment response, switching and definition of persistent remission. Conclusion: These recommendations may be used for guidance of treatment with bDMARDs and tsDMARDs in patients with RA. As more evidence becomes available and more therapies are licensed, these recommendations will be updated.