Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeostasis. To elucidate the role of AP2σ2 in Ca(2+) o regulation, we investigated 65 FHH probands, without other FHH-associated mutations, for AP2σ2 mutations, characterized their functional consequences and investigated the genetic mechanisms leading to FHH3.

A seven-day diabetes service for inpatients and the emergency department in an acute hospital setting - the East and North Herts Diabetes Outreach Team (DOT).

There is evidence that all hospital-based care needs to improve across 7 days. Inpatients with diabetes require better specialist attention and improved clinical outcomes. The East and North Herts inpatient diabetes service has responded to this challenge with care now delivered by consultants and diabetes nurses, 365 days per year.

Radiation-induced hypopituitarism.

Purpose Of Review: Progressive and irreversible neuro-endocrine dysfunction following radiation-induced damage to the hypothalamic-pituitary (h-p) axis is the most common complication in cancer survivors with a history of cranial radiotherapy involving the h-p axis and in patients with a history of conventional or stereotactic pituitary radiotherapy for pituitary tumours. This review examines the controversy about the site and pathophysiology of radiation damage while providing an epidemiological perspective on the frequency and pattern of radiation-induced hypopituitarism.

Recent Findings: Contrary to the previously held belief that h-p axis irradiation with doses less than 40 Gy result in a predominant hypothalamic damage with time-dependent secondary pituitary atrophy, recent evidence in survivors of nonpituitary brain tumours suggests that cranial radiation causes direct pituitary damage with compensatory increase in hypothalamic release activity.

A case of severe staphylococcal septicaemia: septic arthritis and a mediastinal abscess following leflunamide therapy for rheumatoid arthritis.

This highly unusual case illustrates how a potentially life-threatening complication may develop insidiously in the context of immunosuppression. A 46-year-old woman presented with increasing malaise and a marked inflammatory response in the context of immunosuppressive therapy for rhueumatoid arthritis. On the basis of microbiological findings, the patient was treated for systemic staphylococcal infection with a prolonged antibiotic course.