Publications by authors named "Guilherme Asmar Alencar"

Introduction: Meningiomas are the most common primary brain and central nervous system tumors, accounting for approximately 40% of these tumors. The most important exams for the radiological study of meningiomas are computed tomography (CT) and magnetic resonance imaging (MRI). We aimed to analyze the radiological features of patients with meningioma related to the simultaneous presence of bilateral macronodular adrenocortical disease (BMAD), with or without pathogenic variants of ARMC5.

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Background: Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, characterized by functioning adrenal macronodules and variable cortisol production. Recently, we demonstrated a high 18F-FDG uptake in PMAH, an unexpected finding for a benign disorder.

Purpose: To investigate whether there is a correlation between 18F-FDG high uptake and the expression levels of the glycolytic pathway components GLUT1, HK1, HK2, and HK3 in PMAH.

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ACTH-independent macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome (CS), accounting for <2% of all endogenous CS cases; however it is more frequently identified incidentally with sub-clinical cortisol secretion. Recently, cortisol secretion has been shown to be regulated by ectopic corticotropin, which is in turn produced by clusters of steroidogenic cells of the hyperplastic adrenal nodules. Hence, the term 'ACTH-independent' is not entirely appropriate for this disorder.

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Purpose Of Review: Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome and is more often diagnosed as bilateral adrenal incidentalomas with subclinical cortisol production. We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options.

Recent Findings: Recent publications have modified our notions on the genetics and pathophysiology of bilateral macronodular adrenal hyperplasia.

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Article Synopsis
  • Primary macronodular adrenal hyperplasia (PMAH) is a rare genetic condition leading to excess cortisol production and Cushing's syndrome, with potential familial links.
  • A study focused on a Brazilian family with PMAH identified a damaging variant in the ARMC5 gene, confirmed through testing of affected individuals.
  • The findings suggest that mutations in ARMC5 may frequently cause PMAH and highlight its role as a potential tumor suppressor gene.
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The occurrence of metachronous adrenocortical carcinoma has rarely been described. We report a case of a child with virilizing adrenocortical metachronous tumors that, despite several metastases, presented long-term survival (15 years). We analyzed in this tumor IGF2, IGF1R and FGFR4 gene expression, and evaluated the presence of p.

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Objective: This study reports on the Brazilian Portuguese adaptation of the QoL-AGHDA (Quality of Life Assessment of Growth Hormone Deficiency in Adults) for use in adult growth hormone deficient (GHD) patients.

Materials And Methods: The translation process adopted the dual panel methodology. The questionnaire was tested through field-test interviews (16 GHD patients).

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