Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.

Background: Pharmacological therapy may be useful in the treatment of moderate to severe hypercalcemia in patients with infantile hypercalcemia-1 (HCINF1) due to pathogenic variants in the cytochrome P450 24 subfamily A member 1 (CYP24A1). Rifampin is an antituberculosis drug that is a potent inducer of cytochrome P450 3 subfamily A member 4, which is involved in an alternative catabolic pathway of vitamin D. The efficacy of rifampin in improving hypercalcemia was previously reported, but many questions remain on the long-term efficacy and safety.

Late-onset postsurgical hypoparathyroidism following parathyroidectomy for recurrent primary hyperparathyroidism: a case report and literature review.

Purpose: Previously in 1987, a 21-year-old male was diagnosed with primary hyperparathyroidism (PHPT) when a right inferior parathyroid adenoma was removed. PHPT recurred after 3 and 6 years and on both occasions was cured by resection of parathyroid adenomas. At 52 years of age, the patient developed a late-onset hypoparathyroidism (HP), even though postsurgical HP typically occurs as a transient or permanent form soon after neck surgery.

Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men.

The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter's syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison's disease (AD), Hashimoto thyroiditis (HT), and autoimmune chronic atrophic gastritis (AG). Sixty-one adult Caucasian 47,XXY KS patients were tested for autoantibodies specific to T1DM (Insulin Abs, GAD Abs, IA-2 Abs, Znt8 Abs), HT (TPO Abs), AD (21-OH Abs), and AG (APC Abs). Thirty-five of these patients were not undergoing testosterone replacement therapy TRT (Group 1) and the remaining 26 patients started TRT before the beginning of the study (Group 2).

Evaluation of uncertainty of measurement from method validation data: an application to the simultaneous determination of retinol and alpha-tocopherol in human serum by HPLC.

An isocratic RP-HPLC method for the determination of retinol and alpha-tocopherol in serum, with fluorescence and UV/VIS detection, respectively, was developed and validated according to international guidelines. Detection (retinol 0.015 mg/L, alpha-tocopherol 0.