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Eleven cases with histologically confirmed primary hyperparathyroidism have been studied. Although histologically, bone turnover increased in all but 1 patient, urinary hydroxyproline excretion and serum alkaline phosphatase in patients with renal stones were within the upper normal limits of
We report here our genetic findings of a family in which 14 members were affected with isolated primary hyperparathyroidism. Hyperparathyroidism is the main feature of multiple endocrine neoplasia type 1 (MEN1), making the recently cloned MEN1 gene a prime candidate gene in this family.
Rapid detection of the exact changes in bone remodelling is exceptionally important. In this paper, the latest bone remodelling biochemical markers are reviewed. Some of them have already been used for a long time, and their utility has been widely demonstrated. The newest ones, in experimental
Serum concentration of fetal antigen 2 (FA2) in patients with hyperthyroidism (n = 18) (median: 12.9 mAU/l; range: 3.2-22.4 mAU/l) was significantly (p < 0.002) higher than in age- and sex-matched healthy controls (median: 4.1 mAU FA2/l; range: 2.4-10.0 mAU FA2/l). Serum FA2 was positively
Rapid detection of the exact changes in bone remodelling is exceptionally important. In this paper, the latest bone remodelling biochemical markers are reviewed. Some of them have already been used for a long time, and their utility has been widely demonstrated. The newest ones, in experimental
Of the total urinary hydroxyproline in normal subjects and those with skeletal disorders, between 4 and 20% was nondialyzable. In some patients with Paget's disease of bone, hyperparathyroidism with osteitis fibrosa, hyperphosphatasia, and extensive fibrous dysplasia the total urinary hydroxyproline
We report a multiple endocrine neoplasia type 1 (MEN1) patient associated with carcinoid syndrome. A 50-year-old woman had parathyroid hyperplasia with primary hyperparathyroidism, a pancreatic tumor and carcinoid tumors in the liver and duodenum. The primary lesion of the carcinoid was probably the
Phosphate retention in chronic renal failure may result in the development of secondary hyperparathyroidism and renal osteodystrophy. Thus, the addition of a specific phosphaturic agent may be beneficial in the treatment of chronic renal failure. Phosphonoformic acid (PFA), a specific and
OBJECTIVE
To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in an Italian kindred.
METHODS
The study included the female proband, aged 50 years, affected by primary hyperparathyroidism, insulinoma and prolactinoma, and ten relatives. Blood samples were obtained for
Fragments approximately 1 mm3 of freshly obtained iliac crest cancellous bone were incubated for 30 minutes at 37 degrees C in Krebs buffer containing 3H-leucine or 3H-proline followed by radioautography. Grains per osteoblast, reflective of protein synthetic activity, were counted in normal
Hereditary medullary thyroid carcinoma, a tumor that arises from the parafollicular cells of the thyroid gland, occurs in isolation (as in familial medullary thyroid carcinoma), in association with hyperparathyroidism and pheochromocytoma (as in multiple endocrine neoplasia type 2A), or in
Vitamin D deficiency is characterized by secondary hyperparathyroidism, phosphaturia, bicarbonaturia, and generalized amino aciduria. While the site at which the phosphaturia ensues has been described to occur at the apical membrane of the renal proximal tubule, no studies are available for amino
Vitamin-D deficiency is associated with secondary hyperparathyroidism, hypophosphatemia, generalized aminoaciduria, phosphaturia and, late in its course, hypocalcemia. The tubulopathy has been attributed to the elevated levels of circulating parathyroid hormone. To further delineate the mechanisms
A serial bone biopsy longitudinal study has been undertaken to asses the effects of Dialysis and Transplantation on uremic osteodystrophy. The clinical material consists of: normal (24 cases, 61 biopsies), patients with moderate renal failure on free diet (50 c., 61 b.), patients on Low Protein Diet