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Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.
Hum Genome Var
November 2024
Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Neurofibromatosis type 1 (NF1) presents with a broad spectrum of clinical manifestations, including an increased risk of tumor development and hypertension. Comprehensive data on genotype‒phenotype correlations in patients with NF1 are limited. Therefore, in this study, we aimed to elucidate the detailed genetic and clinical characteristics of NF1 in a hereditary tumor cohort.
View Article and Find Full Text PDFAnesthesia Management in Hereditary Pheochromocytoma and Paraganglioma: Updated Insights into Clinical Features and Perioperative Care.
Chin Med Sci J
September 2024
Department of Anesthesiology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medicine Science, Beijing 100730, China.
Article Synopsis
- About 40% of pheochromocytoma and paraganglioma cases are hereditary and tend to have earlier onset and more complicated symptoms.
- Specific genetic conditions like von Hippel-Lindau (VHL) and multiple endocrine neoplasia type 2 (MEN2) significantly influence tumor behavior and surgical outcomes, necessitating careful monitoring.
- A multi-disciplinary team approach is crucial for managing hereditary PPGL cases, as they can involve severe complications in other body systems beyond tumor activity.
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features.
Biomedicines
October 2024
Department of Clinical and Experimental Sciences, University of Brescia, Clinical Research Hospital, IRCCS Multimedica, Sesto San Giovanni, 20099 Milan, Italy.
Pheochromocytoma and paraganglioma (PPGL) are rare tumors derived from the adrenal medulla and extra-adrenal chromaffin cells. Diagnosis is often challenging due to the great variability in clinical presentation; the complexity of management due to the dangerous effects of catecholamine excess and the potentially malignant behavior require in-depth knowledge of the pathology and multidisciplinary management. Nowadays, diagnostic ability has certainly improved and guidelines and consensus documents for treatment and follow-up are available.
View Article and Find Full Text PDFCafe-au-lait spots with resistant hypertension are an indicator of pheochromocytoma: a rare case report.
Arch Peru Cardiol Cir Cardiovasc
June 2024
Cardiology Department, Centre Hospitalo-Universitaire Ibn Rochd of Casablanca, Morocco. Cardiology Department Centre Hospitalo-Universitaire Ibn Rochd of Casablanca Morocco.
Article Synopsis
- * The clinical examination revealed the presence of Café-au-lait spots, which are common in NF1 patients, and imaging confirmed tumors on both adrenal glands.
- * After confirming the diagnosis through urinary Vanillylmandelic acid (VMA) measurement, the woman underwent tumor removal, leading to successful blood pressure normalization and underscoring the need for screening in similar cases.
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