PAULA DE FIGUEIREDO PRESTI POPOUTCHI

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Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina

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Agora exibindo 1 - 4 de 4
  • conferenceObject
    Camurati-Engelmann Disease: Evaluation of a New Therapeutic Option in Two Patients
    (2015) PRESTI, P. de Figueiredo; MENEZES FILHO, H. Cabral; FERREIRA, M. Rodrigues; DICHTCHEKENIAN, V; SETIAN, N.; BERTOLA, R. D.; TESTAI, L. de Cassia; YAMAMOTO, G. Lopes; BARBOSA, S. Maria de Macedo; BOBOLI, I; OFASTRINI, R. Tiviana Verardo; DAMIANI, D.
  • article 0 Citação(ões) na Scopus
    Topiramate Overcoming Dopamine Agonist-Induced Migraine Exacerbation and Avoiding Transsphenoidal Surgery in a Young Boy With a Macroprolactinoma
    (2016) FARIA, Andre M.; PRESTI, Paula de F.; DAMIANI, Durval; MUSOLINO, Nina Rosa; CUNHA NETO, Malebranche B. C.
  • conferenceObject
    Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort
    (2016) MIRANDA, Mirela; CARVALHO, Daniel; GOMES, Larissa; MADUREIRA, Guiomar; MARCONDES, Jose; BILLERBECK, Ana Elisa; RODRIGUES, Andressa; PRESTI, Paula; KUPERMAN, Hilton; DAMIANI, Durval; MEDONCA, Berenice; BACHEGA, Tania
  • article 49 Citação(ões) na Scopus
    Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
    (2016) CARVALHO, Daniel F. de; MIRANDA, Mirela C.; GOMES, Larissa G.; MADUREIRA, Guiomar; MARCONDES, Jose A. M.; BILLERBECK, Ana Elisa C.; RODRIGUES, Andresa S.; PRESTI, Paula F.; KUPERMAN, Hilton; DAMIANI, Durval; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.
    Background: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. Objective: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients. Methods: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen point mutations were screened by allele-specific PCR, large rearrangements by Southern blotting/MLPA, and sequencing was performed in those with incomplete genotype. The gene founder effect was analyzed by microsatellite studies. Patients were divided into six genotypes (Null; A: < 2%; B: 3-7%; C: > 20% of residual enzymatic activity (EA); D: unknown EA; E: incomplete genotype). Results: Targeted methodologies defined genotype in 87.6% of classical and in 80% of NC patients and the addition of sequencing in 100 and 83.5%, respectively. The most frequent mutations were p. V281L (26.6% of alleles), IVS2-13A/C> G (21.1%), and p. I172N (7.5%); seven rare mutations and one novel mutation (p. E351V) were identified. Gene founder effect was observed in all but one (p. W19X) mutation. Null, A, B, and C genotypes correlated with SW (88%), SW (70%), SV (98%), and NC forms (100%), respectively. In group D, the p. E351V mutation correlated with classical form and group E comprised exclusively NC-patients. ACTH-stimulated 17OHP level of 44.3 ng/mL was the best cutoff to identify NC-patients carrying severe mutations. Conclusions: We identified a good genotype-phenotype correlation in CAH, providing useful data regarding prediction of disease ' s severity; moreover, we suggest that ACTH-stimulated 17OHP levels could predict carrier status for severe mutations. Sequencing is essential to optimize molecular diagnosis in Brazilian CAH patients.