Homozygous missense variant of (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.

Objectives: Hypoparathyroidism is a rare disorder which is predominantly of idiopathic or genetic origin in children. The diagnosis is made from the biochemical measurement of parathyroid hormone (PTH), and the key findings include a low PTH in combination with hypocalcemia and hyperphosphatemia. However, the level of PTH encountered in patients with hypoparathyroidism may be dependent on the underlying genetic cause of the disorder as well as the biochemical assay used for assessment of PTH.

Combining bimodal presentation schemes and buzz groups improves clinical reasoning and learning at morning report.

Morning reports offer opportunities for intensive work-based learning. In this controlled study, we measured learning processes and outcomes with the report of paediatric emergency room patients. Twelve specialists and 12 residents were randomised into four groups and discussed the same two paediatric cases.