Publications by authors named "Joyce Cantoni"
Background: X-linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing.
Methods: Through a cross-sectional and observational study, 26 patients with a previously presumptive diagnosis of X-linked hypophosphatemic rickets (based on clinical history, laboratory findings, and physical examination), were followed for approximately 12 months. During 12 months of follow-up, only 16 patients underwent genetic testing and enrolled in the study.
ROLE OF IMAGING TESTS FOR PREOPERATIVE LOCATION OF PATHOLOGIC PARATHYROID TISSUE IN PATIENTS WITH PRIMARY HYPERPARATHYROIDISM.
Endocr Pract
September 2016
Article Synopsis
- The study evaluated the effectiveness of cervical ultrasonography and parathyroid scintigraphy in locating abnormal parathyroid glands in patients with primary hyperparathyroidism (PHPT) before surgery.
- Ultrasonography was found to detect enlarged glands in 87% of patients and had a higher accuracy in predicting surgical findings compared to scintigraphy, which detected them in 79% of cases.
- The researchers concluded that cervical ultrasonography should be the preferred tool for preoperative localization of affected glands in PHPT due to its better predictive value, especially for solitary adenomas.
Our objective is to evaluate and describe one family with six cases of familial isolated primary hyperparathyroidism (HFI), a rare hereditable disorder with an autossomal dominant mode of inheritance. It is characterized by a primary hyperparathyroidism without association with other endocrine tumors or diseases. The HFI diagnosis relied on the demonstration of hypercalcemia, inappropriately high levels of parathyroid hormone, and parathyroid adenomas, plus exclusion of NEM 1/2a and HPT/TM syndrome in this family.
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