MARILENA NAKAGUMA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject NOVEL LZTR1 GENE VARIANTS ASSOCIATED TO NOONAN SYNDROME AND GROWTH HORMONE DEFICIENCY(2017) NAKAGUMA, Marilena; JORGE, Alexander A. L.; MARIANA, Funari F. A.; ANTONIO, Lerario M.; FERNANDA, Correa A.; LUCIANI, Carvalho R. S.; BERENICE, Mendonca B.; ARNHOLD, Ivo J.conferenceObject Prospective Genetic Analysis of Patients with Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using Target Gene Panel(2016) NAKAGUMA, M.; JORGE, A. Augusto de Lima; FUNARI, M. Ferreira de Assis; LERARIO, Marcondes A.; CARVALHO, L. Renata Silveira de; MENDONCA, B. Bilharinho de; ARNHOLD, I Jorge Prado- A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation(2020) INOUE-LIMA, Thais H.; VASQUES, Gabriela A.; NAKAGUMA, Marilena; BRITO, Luciana Pinto; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.Background:The utility of insulin-like growth factor type 1 (IGF-1) is well established in the diagnosis of growth hormone deficiency (GHD), whereas IGF-binding protein type 3 (IGFBP-3) has a more controversial role. Most studies evaluated the value of these peptides by assessing their sensitivity and specificity but not considering the low prevalence of GHD among short children (<2%).Objective:To evaluate the utility of basal IGF-1 and IGFBP-3 values in the GHD diagnosis process with a Bayesian approach, based on pre- and post-test probability.Methods:We determined ROC curves, sensitivity, specificity, and positive and negative predictive values for IGF-1 and IGFBP-3 obtained from patients with GHD (n= 48) and GH-sufficient children (n= 175). The data were also analyzed by classifying the children into early childhood and late childhood (girls and boys younger and older than 8 and 9 years, respectively).Results:The area under the curve (AUC) of the receiver operating characteristic curve of IGF-1-SDS (standard deviation score) was greater than that of IGFBP-3-SDS (AUC 0.886 and 0.786, respectively,p= 0.001). In early childhood, the AUC of IGFBP-3-SDS was significantly improved (0.866) and similar to IGF-1-SDS (0.898). IGF-1-SDS, in comparison to IGFBP-3-SDS, had a greater sensitivity (92 vs. 45.8%, respectively), lower specificity (69 vs. 93.8%, respectively), and lower positive predictive value (5.7 vs. 13.1%, respectively), with similar negative predictive values.Conclusion:IGF-1-SDS is a useful screening tool in the diagnosis of GHD. Although IGFBP-3-SDS lacks sensitivity, its high specificity supports the role to confirm GHD in short children, especially in early childhood. This strategy could simplify and reduce the necessity of a second laborious and expensive GH stimulation test to confirm the diagnosis of GHD.
conferenceObject MOLECULAR ANALYSIS OF BRAZILIAN PATIENTS WITH COMBINED PITUITARY HORMONE DEFICIENCY (CPHD) AND ORTHOTOPIC POSTERIOR PITUITARY LOBE (OPP) REVEALS 8 DIFFERENT PROP1 ALTERATIONS WITH THREE NOVEL MUTATIONS(2017) MADEIRA, Joao L. O.; NISHI, Mirian Y.; NAKAGUMA, Marilena; BENNEDETTI, Anna F.; BISCOTTO, Isabela P.; FERNANDES, Thamiris; PEQUENO, Thiago; FIGUEIREDO, Thalita; FRANCA, Marcela M.; CORREA, Fernanda A.; OTTO, Aline P.; ABRAO, Milena; MIRAS, Mirta; SANTOS, Silvana; JORGE, Alexander A. L.; COSTALONGA, Everlayny F.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; CARVALHO, Luciani R.conferenceObject Probably Pathogenic Variants in New Candidate Genes in Patients with Pituitary Stalk Interruption Syndrome (PSIS) Revealed by Whole-Exome Sequencing(2019) CORREA, F. A.; NAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CARVALHO, L. R. S.; ARNHOLD, I. J. P.; MENDONCA, B. B.conferenceObject Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel(2016) NAKAGUMA, Marilena; JORGE, Alexander Augusto de Lima; FUNARI, Mariana Ferreira de Assis; LERARIO, Antonio Marcondes; CORREAA, Fernanda de Azevedo; CARVALHOA, Luciani Renata Silveira de; MENDONCA, Berenice Bilharinho de; ARNHOLD, Ivo Jorge PradoconferenceObject Novel Variants in the POU1F1 Beta Isoform Are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency(2018) HOPPMANN, Julia; ROCKSTROH-LIPPOLD, Denise; GERGICS, Peter; NAKAGUMA, Marilena; CARVALHO, Luciani Renata Silveira; PFAEFFLE, Heike; JAMRA, Rami Abou; JORGE, Alexander; GUO, Michael H.; DAUBER, Andrew; KELLER, Eberhard; CAMPER, Sally A.; ARNHOLD, Ivo J. P.; PFAEFFLE, Roland