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Phaeochromocytoma mimicking acute ST-elevation myocardial infarction.
BMJ Case Rep
December 2024
Cardiology, Université de Fribourg Faculté de médecine, Fribourg, Switzerland
Phaeochromocytomas are rare catecholamine-secreting tumours, usually benign, originating from chromaffin cells of the adrenal glands. Their typical presentation includes the triad of headaches, sweating and tachycardia due to excessive catecholamine release. However, many patients do not exhibit all three symptoms, making diagnosis challenging.
View Article and Find Full Text PDFPitfalls in Cytological Diagnosis of Extra Adrenal Paraganglioma and Pheochromocytoma: Experience From a Tertiary Care Center.
Diagn Cytopathol
December 2024
Department of Pathology, IPGME&R, Kolkata, India.
Background: Pheochromocytoma and extra-adrenal paragangliomas increasingly coming into light nowadays because of improved imaging techniques and biochemical investigations. There is sparse literature available regarding cytological findings of adrenal and extra-adrenal paragangliomas.
Material And Methods: We studied 16 cytological specimens retrospectively over a period of 3 years, where subsequent histological diagnosis of phaeochromocytoma or paraganglioma was available.
Characterisation of an Adult Zebrafish Model for -Associated Phaeochromocytomas and Paragangliomas.
Int J Mol Sci
July 2024
Department of Internal Medicine, Radboud University Medical Center, 6525AG Nijmegen, The Netherlands.
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours arising from chromaffin cells. Pathogenic variants in the gene are associated with malignancy and poor prognosis. When metastases arise, limited treatment options are available.
View Article and Find Full Text PDFMultiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.
Clin J Gastroenterol
August 2024
Department of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan.
Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B.
View Article and Find Full Text PDFPitfalls in the Diagnostic Evaluation of Pheochromocytomas.
J Endocr Soc
April 2024
Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM/25, Disciplina de Endocrinologia e Metabologia, Departamento de Medicina Interna, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, 01246-903, São Paulo, SP, Brazil.
Pheochromocytomas and paragangliomas (PPGLs), rare neuroendocrine tumors arising from chromaffin cells, present a significant diagnostic challenge due to their clinical rarity and polymorphic symptomatology. The clinical cases demonstrate the importance of an integrated approach that combines clinical assessment, biochemical testing, and imaging to distinguish PPGLs from mimicking conditions, such as obstructive sleep apnea and interfering medication effects, which can lead to false-positive biochemical results. Although a rare condition, false-negative metanephrine levels can occur in pheochromocytomas, but imaging findings can give some clues and increase suspicion for a pheochromocytoma diagnosis.
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