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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report on various diagnostic pitfalls on 102 patients having undergone exploratory cervicotomy for primary hyperparathyroidism. A false positive diagnostic error was made on 2% of the cases, bringing to 100 the number of patients with a confirmed diagnosis of primary hyperparathyroidism. False negative diagnosis was made on 4% of the patients: two late diagnoses leading to an acute toxic state and death postoperatively in both cases; two pure psychiatric variants leading to repetitive hospitalizations in psychiatry. Error in diagnosis because of a masking effect was made in 4% of the cases:--one association with a clear cell nephro--epithelioma--one association with a multiple myeloma--two associations with a benign monoclonal gammapathy. The absence of hypercalcemia, a diagnostic pitfall in the modern form of this disease was found in 7% of the cases. PTH hypersecretion which is virtually a constant finding in the normocalcemic form of the disease obviates in most cases the need of a bone biopsy and quantitative histomorphometric analysis. The association with another endocrinopathy was found in 12% of the cases (2 MEN I, 1 MEN II, 9 hyperthyroidism). Because of its high frequency in the aged (22% greater than 75 years) the diagnosis of this disease is difficult for its signs are mimicked as well by the aging process. The preoperative topographic diagnostic error is avoided since there doesn't seem to be any test which would preclude the normal surgical procedure of carefully exploring all 4 topographic sites of the parathyroid. Surgical errors can be numerous but minimized with the increasing experience of the operator. Histological errors are seen mainly in the normocalcemic variety where only electron microscopy can detect the typical signs of cellular hyperactivity.
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PMID:[Primary hyperparathyroidism. Apropos of 102 recent exploratory cervicotomies: diagnostic and clinical pitfalls]. 264 28

Multiple Endocrine Neoplasia type 1 (MEN1, OMIM 131100, Wermer syndrome) is characterized by inherited predisposition to primary hyperparathyroidism, endocrine pancreatic-duodenal, pituitary, adrenal glands tumors and benign and/or malignant proliferations of diffuse neuroendocrine tumors in thymus and bronchi, formerly defined as carcinoid tumors. Minor lesions have been observed in MEN1 patients such as cutaneous tumors (angiofibroma, lipoma, lentiginosis), thyroid epithelioma and tumors of the central nervous system, mainly spinal ependymoma. The MEN1 gene, a locus encompassing a 9 kb of genomic sequence contains 10 exons, the first exon being untranslated. The protein encoded by this gene was called menin and has been shown to contain two nuclear localization signals (NLS), suggesting a major function in the nucleus. Germline MEN1 mutations have been described in more than 150 families and are spread throughout the entire coding sequence. More than 70% of the mutations alter one or both NLS and no genotype-phenotype correlations were found to date. The MEN1 gene seems to be involved in a 20-30% of sporadic parathyroid and pancreatic/bronchic neuroendocrine tumors, but less than 1% of pituitary sporadic tumors. Further knowledge on the intracellular function of menin will be needed to understand the pathogenic effect of truncating and missense mutations of this gene in the initiation of endocrine cells tumorigenesis.
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PMID:[Clinicogenetic study of MEN1: recent physiopathological data and clinical applications. Study Group of Multiple Endocrine Neoplasia (GENEM)]. 1018 86