Publications by authors named "Nina R de C Musolino"

Article Synopsis
  • - The Brazilian Rare Diseases Network (RARAS) was established in 2020 to conduct a nationwide epidemiological survey on rare diseases (RDs) in Brazil, addressing the lack of comprehensive national data since the Comprehensive Care Policy for RDs began in 2014.
  • - A total of 12,530 patients were surveyed, with a median age of 15 years; significant findings included that 63.2% had confirmed diagnoses, primarily of phenylketonuria, cystic fibrosis, and acromegaly, and average diagnostic delays lasting 5.4 years.
  • - The majority of diagnoses and treatments were funded by the Public Health System, with notable rates of hospitalization (44.5%) and a mortality rate
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Background: It is still controversial if activating mutations in the stimulatory G-protein α subunit ( mutation) are a biomarker of response to first generation somatostatin receptor ligands (fg-SRL) treatment in acromegaly. Thus, we aimed to evaluate whether mutation predicts long-term response to fg-SRL treatment and to characterize the phenotype of patients harboring mutations.

Methods: sequencing was performed by Sanger.

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Clinically nonfunctioning pituitary adenomas (NFPA) are the most common pituitary tumors after prolactinomas. The absence of clinical symptoms of hormonal hypersecretion can contribute to the late diagnosis of the disease. Thus, the majority of patients seek medical attention for signs and symptoms resulting from mass effect, such as neuro-ophthalmologic symptoms and hypopituitarism.

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Pituitary carcinomas are very rare tumors that in most cases produce prolactin and adrenocorticotropic hormone (ACTH). It is a challenge to diagnosis of a pituitary carcinoma before disclosed symptomatic metastasis. We report the case of a female patient with Cushing's disease who underwent three transsphenoidal surgeries, with pathological findings of common ACTH pituitary adenoma including Ki-67 expression <3%.

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Article Synopsis
  • Acromegaly is a serious disease that leads to higher health issues and lower life expectancy, often diagnosed late due to its subtle symptoms and lack of recognition.
  • Early diagnosis and effective treatment are crucial to reduce health complications and normalize death rates associated with the disease.
  • The Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism aims to outline key clinical signs for suspicion of acromegaly, diagnosis methods, and recommended treatment approaches at specialized centers.
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