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Progress report on multiple endocrine neoplasia type 1.
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFAdolescent primary hyperparathyroidism.
Best Pract Res Clin Endocrinol Metab
January 2025
Department of Endocrinology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India. Electronic address:
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.
View Article and Find Full Text PDFEfficacy of Radiofrequency Ablation-Guided by Ultrasound in Primary Hyperparathyroidism: A Systematic Review and Meta-Analysis.
Head Neck
January 2025
Head and Neck Surgery Department and LIM 28, University of São Paulo Medical School, São Paulo, Brazil.
Background: Radiofrequency ablation guided by ultrasound (RFA-USG) is an alternative treatment for primary hyperparathyroidism (PHPT) patients. Despite showing accurate precision and minimal invasion, its efficacy remains questionable.
Methods: We searched PubMed, Embase, Scopus, Cochrane Library, Portal Regional da Biblioteca Virtual em Saúde (BVS), Web of Science databases for randomized controlled trials (RCTs) and observational studies evaluating RFA-USG in PHPT patients.
Fever of Unknown Origin: A Rare Presentation of Parathyroid Carcinoma.
Cureus
December 2024
General Medicine, All India Institute of Medical Sciences, Nagpur, Nagpur, IND.
Fever of unknown origin (FUO) can be a common manifestation of multiple disease processes like infections, hematological & solid organ malignancies, autoimmune disorders, and autoinflammatory diseases. Endocrine causes of FUO are rare but should be considered in differential diagnosis. We present a case of a 35-year-old female with prolonged on-and-off fever and intermittent vomiting for nine months, where extensive workups for chronic infections, malignancy, and autoimmune conditions initially yielded no definitive diagnosis.
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