HELAINE LAIZ SILVA CHARCHAR

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LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina

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  • article 17 Citação(ões) na Scopus
    A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia
    (2020) TANNO, Fabio Yoshiaki; SROUGI, Victor; ALMEIDA, Madson Q.; YAMAUCHI, Fernando Ide; COELHO, Fernando Morbeck Almeida; NISHI, Mirian Yumie; ZERBINI, Maria Claudia Nogueira; SOARES, Iracy Silvia Correa; PEREIRA, Maria Adelaide Albergaria; CHARCHAR, Helaine Laiz Silva; LACOMBE, Amanda Meneses Ferreira; BRONDANI, Vania Balderrama; SROUGI, Miguel; NAHAS, Willian Carlos; MENDONCA, Berenice B.; CHAMBO, Jose Luis; FRAGOSO, Maria Candida Barisson Villares
    Purpose: This prospective study presents the results of a new approach in the treatment of primary macronodular adrenal hyperplasia (PMAII), with simultaneous total adrenalectomy of the larger adrenal gland and partial adrenalectomy of the contralateral adrenal gland (adrenal-sparing surgery). Materials and Methods: We performed a prospective study including 17 patients with PMAH treated surgically with adrenal-sparing surgery in a tertiary referral hospital, with a median follow-up of 41 months. Clinical, hormonal, and genetic parameters were evaluated before surgery and during follow-up. All patients had at least 1 radiological examination before and after the procedure. Results: Among the 17 patients, all but 1 patient had complete hypercortisolism control, and 12 recovered normal adrenal function after surgery. Significant improvement in clinical parameters was observed: weight loss (P = .004); reduction of both systolic (P = .001) and diastolic (P = .001) blood pressure; and reduction in the number of antihypertensive drugs (P < .001). Intra-, peri-, and postoperative complications were not observed. Conclusion: Adrenal-sparing surgery is a safe and feasible procedure to treat patients with PMAH, providing a substantial chance of hypercortisolism control without the disadvantages of lifetime corticosteroid replacement. (C) Endocrine Society 2020.
  • article 7 Citação(ões) na Scopus
    An Overview of the Heterogeneous Causes of Cushing's Syndrome due to Primary Macronodular Adrenal Hyperplasia (PMAH)
    (2022) CHARCHAR, Helaine Laiz Silva; FRAGOSO, Maria Candida Barisson Villares
    Primary macronodular adrenal hyperplasia (PMAH) is considered a rare cause of adrenal Cushing's syndrome, pituitary ACTH-independent, generally due to bilateral adrenal macronodules (>1 cm) and is often associated with variable cortisol secretion, resulting in a heterogeneous clinical presentation. Recent advances in the molecular pathogenesis of PMAH have offered new insights into the comprehension of this heterogeneous and complex adrenal disorder. Different molecular mechanisms involving the actors of the cAMP/PKA pathway have been implicated in the development of PMAH, including germline and/or somatic molecular defects, such as hyperexpression of the G-protein aberrant receptors, pathogenic variants of MC2R, GNAS, PRKAR1A and PDE11A. Nevertheless, since 2013, ARMC5 gene is believed to be a major genetic cause of PMAH, accounting for over 80% of the familial forms of PMAH and 30% of apparently sporadic cases, except in food-dependent Cushing's syndrome in which ARMC5 is not involved. Recently, two independent groups have identified the tumor suppressor gene KDM1A responsible for PMAH associated specifically with food-dependent Cushing's syndrome. Consequently, PMAH has been more frequently genetically associated than previously assumed. This review summarizes the most important aspects, including hormone secretion, clinical presentation, radiological imaging, and molecular mechanisms, involved in familial Cushing's syndrome associated with PMAH.