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Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
View Article and Find Full Text PDFDiagnostic and Therapeutic Approach to the Major Secondary Causes of Arterial Hypertension in Young Adults: A Narrative Review.
Cardiol Rev
October 2024
Barbra Streisand Women's Heart Center, Smidt Heart Institute, Cedars Sinai Medical Center, Los Angeles, CA.
Arterial hypertension in young adults, which includes patients between 19 and 40 years of age, has been increasing in recent years and is associated with a significantly higher risk of target organ damage and short-term mortality. It has been reported that up to 10% of these cases are due to a potentially reversible secondary cause, mainly of endocrine (primary aldosteronism, Cushing's syndrome, and pheochromocytoma/paraganglioma), renal (renovascular hypertension due to fibromuscular dysplasia and renal parenchymal disease), or cardiac (coarctation of the aorta) origin. It is recommended to rule out a secondary cause of high blood pressure (BP) in those patients with early onset of grade 2 or 3 hypertension, acute worsening of previously controlled hypertension, resistant hypertension, hypertensive emergency, severe target organ damage disproportionate to the grade of hypertension, or in the face of clinical or biochemical characteristics suggestive of a secondary cause of hypertension.
View Article and Find Full Text PDFHereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline pathogenic/likely pathogenic (P/LP) variants in the fumarate hydratase (FH) gene on chromosome 1q42.3, encoding the mitochondrial enzyme responsible for the conversion of fumarate to malate in the Krebs cycle.
View Article and Find Full Text PDFIs the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?
J Kidney Cancer VHL
December 2024
Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Article Synopsis
- The study explores the suitability of the TriNetX database for researching the real-world management of Von Hippel-Lindau (vHL), a rare hereditary disease characterized by various tumors.
- The researchers analyzed data from 1,232 patients diagnosed with vHL within the TriNetX database to identify the prevalence of several vHL-related conditions, finding that certain conditions like renal cell carcinoma and pheochromocytomas were more common than others.
- Despite the robust patient data available, the findings suggest that vHL and its associated conditions may be underdiagnosed within the TriNetX database, casting doubt on its effectiveness for comprehensive vHL studies compared to existing literature.
Vena cava and renal vein thrombosis with pheochromocytoma: A case report.
North Clin Istanb
November 2024
Department of Pathology, Baskent University Dr. Turgut Noyan Training and Research Hospital, Adana, Turkiye.
Pheochromocytomas are potentially malignant and may manifest with vascular thrombi. We present the treatment of a patient with pheochromocytoma and tumor thrombosis of the renal vein and inferior vena cava. A thirty-eight-year-old male patient was admitted complaining of abdominal pain and headache.
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