RAFAEL LOCH BATISTA
Projetos de Pesquisa
Unidades Organizacionais
Instituto de Psiquiatria, Hospital das Clínicas, Faculdade de Medicina - Médico
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
5 resultados
Resultados de Busca
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- Association between KISS1 rs5780218 promoter polymorphism and onset of growth hormone secreting pituitary adenoma(2019) AMORIM, Paulo V. G. H.; GRANDE, Isabella P. P.; BATISTA, Rafael L.; SILVEIRA, Leticia F. G.; FREIRE, Ane Caroline T. B.; BRONSTEIN, Marcello D.; JALLAD, Raquel S.; TRARBACH, Ericka B.Objectives. - This study analyzed the KISS1 c.-145delA (rs5780218) promoter polymorphism in a cohort of patients with growth hormone secreting pituitary adenoma (somatotropinoma) and controls, to investigate its role in the incidence of acromegaly and to assess patient/tumor characteristics. Material and methods rs5780218 allelic and genotypic distributions were compared between 49 somatotropinoma patients and 167 healthy controls. rs5780218 was also assessed in relation to patient characteristics and tumor aggressiveness, as characterized by tumor invasion and resistance to conventional therapy. The relationship between KISS1 mRNA expression and the rs5780218 genotype was also assessed in available pituitary tumor samples. Results. - The homozygous -/- variant genotype was associated with high rates of somatotropinoma (P < 0.01), but not with tumor invasiveness, patient characteristics or hormonal remission. KISS1 mRNA expression was much lower in somatotropinomas carrying the deleted allele than in homozygous wild type AA. Conclusions. - In this pilot study, the rs5780218 promoter polymorphism was evaluated in pituitary adenoma, and showed a possible association with the incidence of somatotropinoma but not with tumor progression.
- Cabergoline in the Management of Residual Nonfunctioning Pituitary Adenoma A Single-Center, Open-Label, 2-Year Randomized Clinical Trial(2019) BATISTA, Rafael L.; MUSOLINO, Nina R. C.; CESCATO, Valter A. S.; SILVA, Gilberto O. da; MEDEIROS, Raphael S. S.; HERKENHOFF, Clarissa G. B.; TRARBACH, Ericka B.; CUNHA-NETO, Malebranche B.Background: Complete tumor removal by transsphenoidal surgery is usually difficult for large nonfunctioning pituitary adenomas (NFPAs). A validated medical treatment may be useful for their management. This study evaluates the clinical efficacy of the dopaminergic agonist cabergoline for residual NFPA. Design, Setting, and Participants: We conducted a randomized, parallel, open-label clinical trial that compared cabergoline with nonintervention in patients with residual NFPA after transsphenoidal surgery over 2 years. The primary outcome was clinical efficacy (tumor reduction). The secondary outcome was the relationship between tumor dopamine D2 receptor (D2R) expression and clinical responsiveness. Tumor measurements and clinical evaluations were performed every 6 months. Results: In total, 59 and 57 individuals were randomly assigned to the study and control groups, respectively. At the end of the study, residual tumor shrinkage, stabilization, and enlargement were observed in 28.8%, 66.1%, and 5.1% of patients, respectively, in the medical-therapy group and in 10.5%, 73.7%, and 15.8% of patients, respectively, in the control group (P=0.01). The progression-free survival rate was 23.2 and 20.8 months for the study and control groups, respectively (P=0.01). D2R was not associated with cabergoline responsiveness. No major side effects were related to cabergoline use. Conclusions: Cabergoline was an effective drug for treating residual NFPA, and its use was associated with a high rate of tumor shrinkage ( NCT03271918).
- The Molecular Basis of 5 alpha-Reductase Type 2 Deficiency(2022) BATISTA, Rafael L.; MENDONCA, Berenice B.The 5 alpha-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by the SRD5A2 gene, which maps to chromosome 2 (2p23), consists of 5 exons and 4 introns, and encodes a 254 amino acid protein. Disruptions in this gene are the molecular etiology of a subgroup of differences of sex development (DSD) in 46,XY patients. Affected individuals present a large range of external genitalia undervirilization, ranging from almost typically female external genitalia to predominantly typically male external genitalia with minimal undervirilization, including isolated micropenis. This is an updated review of the implication of the SRD5A2 gene in 5 alpha-reductase type 2 enzyme deficiency. For that, we identified 451 cases from 48 countries of this particular 46,XY DSD from the literature with reported variants in the SRD5A2 gene. Herein, we present the SRD5A2 mutational profile, the SRD5A2 polymorphisms, and the functional studies related to SRD5A2 variants to detail the molecular etiology of this condition. (c) 2022 S. Karger AG, Base
- Central adrenal insufficiency: who, when, and how? From the evidence to the controversies - an exploratory review(2022) BITENCOURT, Mariana Rechia; BATISTA, Rafael Loch; BISCOTTO, Isabela; CARVALHO, Luciani R.Central adrenal insufficiency (CAI) is a life-threatening disorder. This occurs when ACTH production is insufficient, leading to low cortisol levels. Since corticosteroids are crucial to many metabolic responses under organic stress and inflammatory conditions, CAI recognition and prompt treatment are vital. However, the diagnosis of CAI is challenging. This is not only because its clinical presentation is usually oligosymptomatic, but also because the CAI laboratory investigation presents many pitfalls. Thus, the clarification of when to use each test could be helpful in many contexts. The CAI challenge is also involved in treatment: Several formulations of synthetic steroids exist, followed by the lack of a biomarker for glucocorticoid replacement. This review aims to access all available literature to synthesize important topics about who should investigate CAI, when it should be suspected, and how CAI must be treated. Arch Endocrinol Metab. 2022;66(4):541-50
- Nonfunctioning Pituitary Adenoma Recurrence and Its Relationship with Sex, Size, and Hormonal Immunohistochemical Profile(2018) BATISTA, Rafael Loch; TRARBACH, Ericka Barbosa; MARQUES, Mateus Diniz; CESCATO, Valter Angelo; SILVA, Gilberto Ochman da; HERKENHOFF, Clarissa G. Borba; CUNHA-NETO, Malebranche Berardo; MUSOLINO, Nina RosaBACKGROUND: Tumor recurrence or incomplete resection in nonfunctioning pituitary adenomas (NFPAs) is relatively common. However, predictive factors of tumor recurrence in NFPAs are not well established. We evaluated possible factors related to tumor recurrence in a large cohort of NFPAs at a single pituitary neurosurgery center. METHODS: A retrospective analysis was conducted of medical records of patients with NFPAs treated by transsphenoidal surgery between 2000 and 2014. RESULTS: Among the participants, 210 were female A total of 14.1% had giant adenomas. Null-cell pituitary adenomas (n = 239; 58.9%) were the most frequent, followed by silent gonadotroph adenomas (n = 112; 27.3%). Null-cell adenomas were more frequent in women (P = 0.008) and silent gonadotroph adenomas were more frequent in men (P = 0.004). Recurrence was not related to sex or age. Tumor recurrence occurred more often among silent corticotropic adenomas and giant adenomas (hazard ratio 2.45; P < 0.0001 and hazard ratio 2.35; P = 0.001, respectively). Silent thyrotrophic adenoma presented a comparable frequency of recurrence of silent corticotropic adenomas, despite having borderline significance (P = 0.07). CONCLUSIONS: NFPA tumors have a high heterogeneous hormonal profile and may have prognostic importance. Silent corticotropic adenomas and giant adenomas present a high rate of recurrence.