Navegando por Autor "GARCIA, Lena Stilianidi"

Agora exibindo 1 - 2 de 2

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)
Prevalência do gene TSPY em pacientes com anomalias do desenvolvimento sexual no Pará
(Universidade Federal do Pará, 2014-04-14) GARCIA, Lena Stilianidi; BURBANO, Rommel Mario Rodriguéz; http://lattes.cnpq.br/4362051219348099
Patients with disorders of sexual differentiation (DDS) present higher risk of neoplasies. The most common neoplastic changes in these patients are: the gonadoblastoma, carcinomain situ and cell germ tumors of intra-tubular unclassified. The type II germ cells are precursors these lesions in most cases. The gonadoblastoma is a benign tumor that no metastasizes, but the high prevalence and risk of progression to malignant forms of gonadal neoplasms, deserves special attention. In a close to the centromere on the short arm of the Y chromosome region, the TSPY gene was isolated, counted as the gonadoblastoma gene. Expressed in large amounts in cells that constitute the gonadoblastoma. DDS 47 patients were evaluated in their karyotypes and research investigated the prevalence of TSPY PCR. The analysis reveled that 50% of patients with Turner syndrome, even without the Y chromosome, righteous or not, evident in the karyotype, were positive for the presence of the TSPY gene. Evidencing the importance of the gene in the monitoring and guidance of gonadectomy in patients with DDS.