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Iter diagnostico nel paziente con iperparatiroidismo primario recidivato dopo paratiroidectomia
No full textParathyroid carcinoma: a clinical and genetic perspective
No full textParathyroid carcinoma (PC) is a rare neoplasia difficult to diagnose preoperatively. It mainly occurs as a sporadic disease but also as part of familial PHPT. At variance with patients with the benign counterpart, the phenotype of these patients is characterized by a severe primary hyperparathyroidism (PHPT). The clinical features are mostly due to the effects of the excessive secretion of PTH by the functioning tumor and hypercalcemia rather than to the tumor burden. The prognosis is poor and unmanageable hypercalcemia accounts for death in the majority of cases. The best chance of cure is surgery, although persistent or recurrent disease occurs in about 50% of patients. Somatic loss-of-function mutations of CDC73 gene, encoding parafibromin, are the most frequent genetic alterations occurring in PCs. Mutations of the PRUNE2 gene, alterations of the PI3K/AKT/mTOR pathway and amplification of the CCND1 gene have been recently detected in PCs. Alteration of microRNA profile and methylation pattern have been identified in PCs. The recent studies have better defined the genomic landscape of PCs and represent major progress toward a full molecular characterization of this neoplasia and development of novel therapeutic options
Non-surgical management of primary hyperparathyroidism
No full textThe purpose of this chapter is to discuss the options available for patients with primary hyperparathyrodism (PHPT) not undergoing parathyroidectomy (PTx). Adequate hydration should be recommended in all patients. Calcium intake should not be restricted and vitamin D deficiency should be corrected aiming at a serum concentration of 25OHD of >20 ng/mL or even higher (>30 ng/mL according to some opinion leaders). Pharmacologic therapy is not an alternative to PTx and could be considered in patients who meet the surgical criteria but unwilling to undergo PTx, as well as in patients with an increased risk of surgery or failed surgery. Targeted therapy includes antiresorptive drugs for skeletal protection and cinacalcet for lowering serum calcium. Combined therapy can be an option when appropriate. Pregnant women should be treated conservatively (hydration) and surgery, if needed, performed in the second trimester of pregnancy. Severe hypercalcemia is a life-threatening condition and requires immediate intensive treatment
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