scholarly journals Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review

2016 ◽  
Vol 21 (7) ◽  
pp. 832-839 ◽  
Author(s):  
Carlos Andrés Ossa ◽  
Diana Torres
Author(s):  
Aline Silva Coelho ◽  
Marielle Anália da Silva Santos ◽  
Rosecleide Inácio Caetano ◽  
Camila Fátima Piovesan ◽  
Larissa Aparecida Fiuza ◽  
...  

2009 ◽  
Vol 53 (9) ◽  
pp. 1167-1175 ◽  
Author(s):  
Rosalinda Camargo ◽  
Sandro Corigliano ◽  
Celso Friguglietti ◽  
Alicia Gauna ◽  
Rubén Harach ◽  
...  

Several guidelines on diagnosis and treatment of thyroid nodules and cancer have recently been published. However, recommended practices are not always appropriate to different settings or countries. The aim of this consensus was to develop Clinical Guidelines for evaluation and management of patients with thyroid nodules applicable to Latin American countries. The panel was composed by 13 members of the Latin American Thyroid Society involved with research and management of thyroid nodules and cancer from different medical centers in Latin America. The consensus was produced based on the expert opinion of the panel with use of principles of evidence-based medicine. Following a group meeting, a first draft based on the expert opinion of the panel was elaborated and later circulated among panel members for further revision. After revision, this document was submitted to all LATS members for commentaries and considerations and finally revised and refined by the authors. The final recommendations represent state of the art on management of thyroid nodules applied to all Latin American countries.


2009 ◽  
Vol 53 (7) ◽  
pp. 884-887 ◽  
Author(s):  
Fabián Pitoia ◽  
Laura Ward ◽  
Nelson Wohllk ◽  
Celso Friguglietti ◽  
Eduardo Tomimori ◽  
...  

The aims of these recommendations were to develop clinical guidelines for evaluation and management of patients with differentiated thyroid cancer applicable to Latin American countries. The panel was composed by 13 members of the Latin American Thyroid Society (LATS) involved with research and management of thyroid cancer from different medical centers in Latin America. The recommendations were produced on the basis of the expert opinion of the panel with use of principles of Evidence-Based Medicine. Following a group meeting, a first draft based on evidences and the expert opinions of the panel was elaborated and, later, circulated among panel members, for further revision. After, this document was submitted to the LATS members, for commentaries and considerations, and, finally, revised and refined by the authors. The final recommendations presented in this paper represent the state of the art on management of differentiated thyroid cancer applied to all Latin American countries.


2020 ◽  
Vol 19 (9) ◽  
pp. 795-805
Author(s):  
Anar Andani ◽  
Tessa M. van Elten ◽  
Eveline M. Bunge ◽  
Cinzia Marano ◽  
Fernanda Salgado ◽  
...  

Author(s):  
Kátya De Brito e Silva ◽  
Jader Ferreira Leite ◽  
Telmo Mota Ronzani ◽  
Rafaela Toledo Dias ◽  
Railan Bruno Pereira da Silva

Some challenges have permeated the approach of Latin American Psychology to rural contexts, such as theoretical gaps regarding the rural category. Thus, this article discussed the conceptions used by Latin American Psychology to define rural, based on its scientific production. To search for scientific articles that dealt with this theme, we used the Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) as a guide. Thus, the term “Psychology” and the Boolean descriptor and for the terms “rural area” and “rural population” were used, in Portuguese, English and Spanish, and in the following databases: PubMed, PsycINFO, Redalyc, Scielo, PEPSIC e LILACS. Narrative, systematic and meta-analysis reviews were excluded and empirical studies on the topic, written by psychologists in Latin American countries, were included, reaching a total of 89 articles. The results show a predominance of conceptions of physical-geographical sense. Despite this, an effort was identified to present and discuss the specifics of rural contexts. In this way, the importance of problematizing theoretical aspects about the concept of rural is emphasized, understanding that it is not just a place, but a category of theoretical reflection. 


Array ◽  
2020 ◽  
Vol 6 ◽  
pp. 100020 ◽  
Author(s):  
Aristea Kontogianni ◽  
Efthimios Alepis

1999 ◽  
Vol 15 (1-3) ◽  
pp. 69-73 ◽  
Author(s):  
Kathleen Claes ◽  
Eva Machackova ◽  
Michel De Vos ◽  
Bruce Poppe ◽  
Anne De Paepe ◽  
...  

Since the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely unknown, we initiated mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease. We completed the analysis in 49 families and in 19 “sporadic” female patients with early onset breast and/or ovarian cancer. In 15 families we identified a mutation (12 mutations in BRCA1 and 3 mutations in BRCA2). In 5 apparently unrelated families the same splice site mutation was identified (BRCA1 IVS5+3A>G). Haplotype analysis revealed a common haplotype immediately flanking the mutation in all families suggesting that disease alleles are identical by descent. In none of the 19 sporadic patients was a mutation found.


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