Context: Osteogenesis imperfecta (OI) is a genetic disorder of the extracellular matrix of bone characterized by low bone mass manifesting as frequent fractures, delayed motor development, pain, and impaired quality of life. The intravenous bisphosphonate, pamidronate is an established treatment for OI. Recently, zoledronic acid (ZA) has been used for the management of OI. Aim: To assess the efficacy and safety of ZA in children below five years of age with OI. Settings and Design: A hospital-based prospective observational study. Methods and Material: Patients with OI aged less than five years attending our centre were treated with intravenous ZA at a dose of 0.05 mg/kg every six months. Subjects were closely monitored for clinical and biochemical variables, adverse events, and new-onset fractures. The response to therapy was assessed by monitoring clinical variables including the degree of bony pains, number of fractures, height/length standard deviation score (SDS), and motor developmental milestones. All patients were analysed at baseline and at the end of two years for biochemical parameters and clinical severity score (CSS) as proposed by Aglan et al . with modifications. Results: After two years of treatment, OI patients showed a significant decline in the rate of fractures ( p < 0.001), improvement in ambulation ( p = 0.005), alleviation of pain ( p < 0.001), and improvement in height SDS ( p < 0.05). There was a significant improvement in CSS after two years of therapy. Apart from mild flu-like symptoms and mild asymptomatic hypocalcaemia immediately post-infusion, no other adverse effect was noted. Conclusion: ZA therapy in infants and children below five years of age with OI was effective and safe and a more convenient alternative to pamidronate.
Context: Adrenal incidentalomas (AIs) are seen in around 2% of apparently healthy individuals. These require careful evaluation for the hormone excess state and the presence of malignancy prior to intervention. Aims: To study the clinical, biochemical, and imaging characteristics of the patients with AI and correlate the diagnosis with the histopathology findings in patients undergoing surgery. Settings and Design: Retrospective observational study. Methods and Material: Patients with adrenal incidentaloma presenting between January 2017 and January 2021 were evaluated as per guidelines provided by the European Society of Endocrinology and the European Network for the Study of Adrenal Tumors. Patients were given final diagnosis on the basis of imaging impression, hormonal activity, and biopsy results (when applicable). Results: Forty-eight patients were evaluated, with 25 being male, the mean age being 40.9 years (8–71), and the mean size of the mass being 6.21 (1.4–13.7) cm. Thirty-five (72.9%) of them underwent surgical excision. The most common diagnosis was myelolipoma (16), followed by pheochromocytoma (10) and adenoma (9). Nineteen patients were found to have hormone-secreting masses. Two patients with pheochromocytoma were normotensive. There was discordance between imaging diagnosis and hormonal status in two patients, with final diagnosis of pheochromocytoma. One patient with extramedullary erythropoiesis of the adrenal gland was subsequently diagnosed with sickle cell anemia and adrenal insufficiency. Conclusions: The study highlights the rare possibility of discrepancy between non-contrast CT diagnosis and functional status of AI. There is also a rare possibility of extramedullary erythropoiesis presenting as AI with adrenal insufficiency. Specific evaluation for such rare possibilities should be considered in AI cases as per clinical scenario.
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