MIRIAN YUMIE NISHI
Projetos de Pesquisa
Unidades Organizacionais
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
7 resultados
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Agora exibindo 1 - 7 de 7
- Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development(2023) JR, Jose Antonio Diniz Faria; MORAES, Daniela R.; KULIKOWSKI, Leslie Domenici; BATISTA, Rafael Loch; GOMES, Nathalia Lisboa; NISHI, Mirian Yumie; ZANARDO, Evelin; NONAKA, Carolina Kymie Vasques; SOUZA, Bruno Solano de Freitas; MENDONCA, Berenice Bilharinho; DOMENICE, SorahiaBackground: Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with syndromic DSD of unknown etiology. Methods: Twenty-two patients with DSD and syndromic features were included in the study and underwent SNP-array analysis. Results: In two patients, the diagnosis of 46,XX SRY + DSD was established. Additionally, two deletions were revealed (3q29 and Xp22.33), justifying the syndromic phenotype in these patients. Two pathogenic CNVs, a 10q25.3-q26.2 and a 13q33.1 deletion encompassing the FGFR2 and the EFNB2 gene, were associated with genital atypia and syndromic characteristics in two patients with 46,XY DSD. In a third 46,XY DSD patient, we identified a duplication in the 14q11.2-q12 region of 6.5 Mb associated with a deletion in the 21p11.2-q21.3 region of 12.7 Mb. In a 46,XY DSD patient with delayed neuropsychomotor development and congenital cataracts, a 12 Kb deletion on chromosome 10 was found, partially clarifying the syndromic phenotype, but not the genital atypia. Conclusions: The SNP array is a useful tool for DSD patients, identifying the molecular etiology in 40% (2/5) of patients with 46,XX DSD and 17.6% (3/17) of patients with 46,XY DSD.
conferenceObject IDENTIFICATION OF NEW GENETIC MODIFIERS OF THE PHENOTYPE IN SHOX HAPLOINSUFFICIENCY(2023) DANTAS, N. C. B.; FUNARI, M. F.; ANDRADE, N. L. M.; REZENDE, R. C.; CELLIN, L. P.; LERARIO, A. M.; NISHI, M. Y.; MENDONCA, B. B.; JORGE, A. De LimaconferenceObject Clinical, psychological, and molecular aspects of a large androgen insensitivity syndrome cohort(2023) BATISTA, Rafael Loch; INACIO, Marlene; AFONSO, Ane Caroline; CARVALHO, Filomena; RAMOS, Raquel; CRAVEIRO, Flora; DALLAGO, Renata; FERRARI, Maria Tereza; BATATINHA, Julio; NISHI, Miriam; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho- Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease(2023) BOTELHO, Maria Luiza Anhaia de Arruda; NISHI, Mirian Yumie; RIBEIRO, Karina Braga; ZERBINI, Maria Claudia NogueiraBilateral macronodular adrenocortical disease (BMAD) is a neoplastic disease associated with a high frequency of germline disease. Armadillo repeat containing 5 (ARMC5) pathogenic variants (PVs) have not been widely studied to determine the morphological and immunohistochemical characteristics of BMAD. We carried out a detailed morphologic review of 22 surgical specimens excised from patients with BMAD and compared them with PV of ARMC5 (PV + , n = 14) and those without (PV - , n = 8), and further comparing them with a control group of adrenals excised from patients with renal cancer (n = 11). No patients presented with a genetic syndrome related to BMAD. Overt Cushing's syndrome was present in 12/22 patients, 10 PV + and 2 PV - (p = 0.074). We also evaluated the expression of Ki-67, BCL-2, BAX, p53, CYP11B1, and ARMC5 protein. The pseudo-glandular and trabecular architectural patterns were strongly associated with the PV + group (both p < 0.001), as well as capsular extrusion (p < 0.001). There was no predictive value in the distinction of ARMC5 variants in Hsiao subtyping. ARMC5 diffuse cytoplasmic staining was observed in all 11 control samples. The ARMC5 expression was significantly lower in BMAD than in the control group (p < 0.001). In all the specimens, expression of BCL-2 was identified only in the medulla, and expression of BAX was observed in adrenocortical cells. CYP11B1 diffuse immunoexpression was identified in all the specimens of BMAD and in the fasciculata zone in the control group. The mitotic count and Ki-67 proliferation index was very low in all three groups (controls, PV + , and PV - BMAD). None of the specimens stained positive for the p53 protein. Although our series is limited, the presence of pseudo-glandular and/or trabecular patterns and capsular extrusion indicated the presence of pathogenic variants of ARMC5 in BMAD. The gland enlargement does not seem to be related to the increase of mitotic count or a higher proliferation index (Ki-67).
conferenceObject Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan(2023) BATISTA, Rafael; GOMES, Nathalia; BACHEGA, Tania; MADUREIRA, Guiomar; MIRANDA, Mirela; DALLAGO, Renata; TERESA, Maria; LOUSADA, Ferrari Lia; CRAVEIRO, Flora; BATATINHA, Julio; SCALCO, Renata; JORGE, Alexander; COSTA, Elaine; SIRCILI, Maria Helena; DENES, Francisco; INACIO, Marlene; NISHI, Mirian; DOMENICE, Sorahia; MENDONCA, Berenice- 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency(2023) GOMES, N. L.; COSTA, E. M. F.; INACIO, M.; MARTIN, R. M.; NISHI, M. Y.; CARVALHO, F. M.; SIRCILLI, M. H. P.; TIBOR, F. D.; DOMENICE, S.; MENDONCA, B. B.In this chapter, we revise the epidemiological, clinical, hormonal, genetical findings and also the long-term outcomes of 46,XY individuals with 17β-HSD3 deficiency based on the review of previously reported cases and also our own cases. © 2023 Elsevier Inc. All rights reserved.
conferenceObject Testicular function of 46,XY subjects with differences of sex development (DSD) due to NR5A1 mutations(2023) DALLAGO, Renata T.; BATISTA, Rafael Loch; GUERRA-JUNIOR, Gil; MACIEL-GUERRA, Andrea Trevas; BECK, Mayra S. El; COSTA, Elaine M. F.; INACIO, Marlene; NISHI, Mirian; DOMENICE, Sorahia; MENDONCA, Berenice B.