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Metastatic Pheochromocytoma/Paraganglioma Overproducing Multiple Catecholamines.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Kanazawa University, Kanazawa, 920-8641, Ishikawa, Japan.
Pheochromocytoma and paraganglioma (PPGL) are rare chromaffin-cell tumors producing adrenaline and/or noradrenaline, or solely dopamine. A 52-year-old man presenting with hypertension (141/79 mm Hg) and weight loss (10 kg in 6 months) was admitted to our hospital. Computed tomography revealed a massive right adrenal mass (150 mm) with partial necrosis, accompanied by multiple liver nodules.
View Article and Find Full Text PDFGFPrint™: A machine learning tool for transforming genetic data into clinical insights.
PLoS One
November 2024
Topazium Artificial Intelligence, Madrid, Spain.
Article Synopsis
- The GFPrint™ algorithm is designed to analyze large genetic sequencing data, helping to uncover important features related to diseases.
- It has been validated using cancer genomic datasets, revealing gene mutations that negatively impact survival in various cancers like colorectal cancer and breast cancer.
- GFPrint™ is accessible online, making it useful for any medical field where understanding genetic profiles can aid in disease management.
The current and upcoming era of radiomics in phaeochromocytoma and paraganglioma.
Best Pract Res Clin Endocrinol Metab
August 2024
Department of Radiology, University Hospital and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic. Electronic address:
The topic of the diagnosis of phaeochromocytomas remains highly relevant because of advances in laboratory diagnostics, genetics, and therapeutic options and also the development of imaging methods. Computed tomography still represents an essential tool in clinical practice, especially in incidentally discovered adrenal masses; it allows morphological evaluation, including size, shape, necrosis, and unenhanced attenuation. More advanced post-processing tools to analyse digital images, such as texture analysis and radiomics, are currently being studied.
View Article and Find Full Text PDFClinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma.
Biochim Biophys Acta Rev Cancer
September 2024
Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
Over the past two decades, research into the genetic susceptibility behind pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most heritable tumors. Massive sequencing combined with careful patient selection has so far identified more than twenty susceptibility genes, leading to an over-detection of variants of unknown significance (VUS) that require precise molecular markers to determine their pathogenic role. Moreover, some PPGL patients remain undiagnosed, possibly due to mutations in regulatory regions of already known genes or mutations in undiscovered genes.
View Article and Find Full Text PDFA Case of Pheochromocytoma With Coagulation Necrosis Due to Hypertensive Crisis Aggravated by Contrast-Enhanced CT Scan and Negative 123I-Metaiodobenzylguanidine (MIBG) Scintigraphy.
Cureus
March 2024
Department of Nephrology, National Defense Medical College, Saitama, JPN.
Article Synopsis
- *A 50-year-old Japanese woman experienced a hypertensive crisis leading to severe tissue damage in a pheochromocytoma, despite negative results from I-MIBG scintigraphy and only mildly elevated plasma metanephrine levels.
- *Histological examination confirmed the diagnosis of pheochromocytoma due to necrosis, highlighting that negative I-MIBG results don't exclude the diagnosis and that clinical assessment is crucial in such situations.
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