Navegando por Autor "CALDATO, Milena Coelho Fernandes"

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Acesso aberto (Open Access)
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
(2008) CARVALHO, Tarcísio André Amorim de; SOUZA, Isabel Cristina Neves de; YOSHIOKA, France Keiko Nascimento; CALDATO, Milena Coelho Fernandes; TORRES, Nilza Nei; GARCIA, Lena Stilianidi; GUERREIRO, João Farias
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.
Acesso aberto (Open Access)
A reumatologia em um curso de medicina com aprendizagem baseada em problemas
(2013-12) CALDAS, Cezar Augusto Muniz; PAZ, Otávio Augusto Gomes da; NEGRÃO, José Nazareno Cunha; CALDATO, Milena Coelho Fernandes
OBJECTIVE: To present the experience of a Brazilian institution in the learning of Rheumatology at medical school and whose teaching project is structured into active learning methodologies. METHODS: Derived from a descriptive study with a qualitative approach to content related to Rheumatology in the medicine course of CESUPA. RESULTS: The musculoskeletal system is discussed in the second and seventh terms as part of the modules related to the locomotor system and Internal Medicine II, respectively, and each stage and activity has specific minimum objectives. In addition to the theoretical content, in the seventh term the students conduct Rheumatology ambulatory care where the focus is on preparing proper anamnesis and physical examination. During internship the students resume Rheumatology ambulatory care and at this point their diagnostic, investigative and therapeutic skills are the most required. CONCLUSION: There still is much to evolve in terms of finding an ideal model for teaching Rheumatology. However, by complying with the principal recommendations available for good medicine school teaching practices, we are able to offer future doctors the knowledge, skills and experiences that will potentially support them when treating rheumatology patients.