Publications by authors named "Joseph R Tucci"

The existence of normocalcemic primary hyperparathyroidism (NPHP) was acknowledged at the Third and Fourth International Proceedings on primary hyperparathyroidism PHPT but data relating to its clinical presentation, natural history, and skeletal status were limited and there was no information nor guidelines as to definitive therapy. Herein are reported biochemical, hormonal, and densitometry data in a postmenopausal woman seen initially for osteoporosis who was found to have increased serum PTH levels and normal serum total and ionized calcium levels without evidence of secondary hyperparathyroidism. Over a seven year period, the patient exhibited continuing preferential cortical bone loss at the one-third site of the radius in the face of relatively stable readings at the lumbar spine and hip that led to a subtotal parathyroidectomy for parathyroid hyperplasia with resultant normalization of serum PTH.

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Skeletal fluorosis (SF) is endemic in many countries and millions of people are affected worldwide, whereas in the United States SF is rare with occasional descriptions of unique cases. We report a 28-year-old American man who was healthy until 2 years earlier when he gradually experienced difficulty walking and an abnormal gait, left hip pain, loss of mobility in his right wrist and forearm, and progressive deformities including enlargement of the digits of both hands. Dual-energy X-ray absorptiometry (DXA) of his lumbar spine, femoral neck, total hip, and the one-third forearm revealed bone mineral density (BMD) Z-scores of +6.

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Objective: Bisphosphonates are the most effective therapeutic agents in patients with Paget's disease of bone. As a result of their inhibition of osteoclastic activity, hypocalcemia of variable frequency and severity following intravenous bisphosphonate therapy has been reported. The present study assessed the effect of physician and patient education on adequate supplementation of calcium and vitamin D to reduce the potential risk of developing hypocalcemia following infusion of 5 mg zoledronic acid.

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Objective: To evaluate the effect of zoledronic acid (ZA) in patients with Paget disease (PD) who had not had a biochemical remission with prior bisphosphonate therapy or had a remission ≤12 months.

Methods: The effects of ZA therapy were studied in 14 patients aged 54 to 90. Serum alkaline phosphatase (ALP) levels were elevated to at least 40% above the normal reference range, and glomerular filtration rates (GFRs) were ≥40 mL/minute.

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Objective: To present a case of Paget's disease of bone that was unmasked after vascular reperfusion.

Methods: In this case study, we review the presentation, evaluation, diagnosis, and management of a patient with Paget's disease and peripheral vascular disease.

Results: A 79-year-old-woman with a history of coronary artery heart disease and recent finding of a T5 compression fracture was hospitalized for evaluation of right lower extremity claudication.

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Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis, has revealed previously unrecognized physiology orchestrating the balance between renal salt reabsorption and K(+) and H(+) excretion. Here we used exome sequencing to identify mutations in kelch-like 3 (KLHL3) or cullin 3 (CUL3) in PHAII patients from 41 unrelated families.

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Objective: To describe the effects of an infusion of zoledronic acid in a patient with Paget disease of bone (PD) who had been treated unsuccessfully with several other bisphosphonates.

Methods: The patient's treatment history is described, and his response to various bisphosphonates, including zoledronic acid, is discussed.

Results: The patient was a 61-year-old man when a diagnosis of PD was made on the basis of an elevated serum alkaline phosphatase (ALP) level of 391 U/L (reference range, 45 to 135).

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Osteoporosis affects about 10 million individuals in the United States, a number that is expected to increase substantially in coming decades as the elderly population burgeons. The chief debilitating consequence of osteoporosis, fracture, will affect about half the women and a third of the men in their lifetime, posing a daunting challenge to managed healthcare systems in terms of delivering optimal care and restraining cost. By encouraging optimal postfracture follow-up care and identifying those members at higher risk for fracture and in need of prompt treatment, managed care organizations can enhance the cost-effective management of osteoporosis, dampening downstream costs.

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Background: Antiresorptive agents are widely used to treat osteoporosis. We report the results of a multinational randomized, double-blind study, in which postmenopausal women with osteoporosis were treated with alendronate for up to 10 years.

Methods: The initial three-year phase of the study compared three daily doses of alendronate with placebo.

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We discovered two well-demarcated nodules incidentally in a thyroid removed because of a nodular goiter. Histologically, the nodules showed a pattern of paraganglioma or so-called paraganglioma-like adenoma of the thyroid (PLAT), with lobules of polygonal and oval cells in a vascular stroma, but the immunohistochemical markers typical of paraganglioma, including chromogranin, synaptophysin, Leu 7 and 5-100, and thyroglobulin, characteristic of PLAT, were negative in the tumor cells. C-cell markers calcitonin and somatostatin were also negative.

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