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Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma.
Best Pract Res Clin Endocrinol Metab
December 2024
Department of Medicine and Department of Molecular Oncology, King Faisal Specialist Hospital & Research Center, Riyadh 11211, Saudi Arabia. Electronic address:
Article Synopsis
- - Pathogenic variants (PVs) in the EPAS1 gene, which influences the hypoxia-inducible factor HIF-2α, are linked to about 3%-6% of pheochromocytoma and paragangliomas (PPGLs), either as standalone tumors or as part of Pacak-Zhuang Syndrome (PZS) which may include additional symptoms like polycythemia and somatostatinoma.
- - The mutations in EPAS1 allow HIF-2α to escape from degradation processes, leading to its accumulation and activation of genes that promote tumor formation, particularly in those diagnosed in their second or third decade of life, with a higher prevalence in females.
- - Research into the hyp
Paragangliomas and syringomyelia in Tetralogy of Fallot-A case report and literature review.
Clin Case Rep
October 2024
Department of Otorhinolaryngology 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Charles University Prague Czech Republic.
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries, paragangliomas, and syringomyelia are uncommon diseases. Furthermore, in the absence of any genetic link and with less than five reported adult patients surviving unrepaired rare form of Tetralogy of Fallot, our case shows noteworthiness. The possibility of definitive treatment of these conditions is rendered unsafe due to this persistent defect.
View Article and Find Full Text PDFClinical Progression of a Paraganglioma Over Many Years in a Man With Congenital Heart Disease.
AACE Clin Case Rep
September 2023
Division of Endocrinology, Diabetes & Metabolism, Department of Internal Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California.
Background: Documented symptomatic progression of a paraganglioma (PGL) over many years is unusual. Our objective is to report a young man with such an occurrence.
Case Report: A 27-year-old male presented with headache, sweating, and palpitation.
Congenital Cyanotic Heart Disease and the Association with Pheochromocytomas and Paragangliomas.
Curr Cardiol Rep
November 2023
Division of Renal Electrolyte and Hypertension, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose Of Review: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that commonly produce excess catecholamines causing significant morbidity and mortality. Patients with cyanotic congenital heart disease (CCHD) develop PPGLs at a higher frequency than the general population. This review will summarize recent research in the association of PPGL and CCHD.
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