A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets.

Mutations in the vitamin D receptor (VDR) cause hereditary vitamin D-resistant rickets (HVDRR), an autosomal recessive disease resulting in target organ resistance to 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)]. In this report, we describe the clinical case and molecular basis of HVDRR in an Asian boy exhibiting the typical clinical features of the disease including alopecia. Using cultured dermal fibroblasts from the patient, 1,25(OH)(2)D(3) resistance was demonstrated by a shift in the dose response required for 25-hydroxyvitamin D-24-hydroxylase (24-hydroxylase) mRNA induction.

Delayed recovery from post-thyroidectomy hypoparathyroidism: a case report.

Thirteen hours after a subtotal thyroidectomy was performed for hyperthyroidism, a patient developed carpopedal spasms, parathesias and hypocalcemia to 6.9 mg/dL. After initial stabilization with intravenous calcium administration, oral calcium carbonate and calcitriol were required.

Adrenal insufficiency secondary to adrenal hemorrhage. Two case reports and a review of cases confirmed by computed tomography.

We report two cases of adrenal hemorrhage and review 17 others that were confirmed by hormone measurements and computed tomography. Precipitating factors included heparin therapy, surgery, hypotension, and sepsis. Heparin-associated thrombocytopenia may be an underappreciated cause of adrenal hemorrhage.

Staurosporine stimulates expression of the urokinase-type (u-PA) plasminogen activator in LLC-PK1 cells.

In LLC-PK1 porcine epithelial cells, the urokinase-type plasminogen activator (u-PA) mRNA and protein can be induced either by stimulation of the protein kinase C (PKC) pathway using a tumor promoter (PMA) or by stimulation of the protein kinase A (PKA) pathway with calcitonin (SCT). By contrast, addition of 10(-7) M staurosporine, an inhibitor of PKC, to LLC-PK1 cells also stimulated urokinase production. In contrast to the in vitro situation (where staurosporine inhibited PKC activity), in the cell-culture system the microbial agent caused an early translocation of PKC and inhibited PKA.