Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.

Hypothesis: About 1% of patients clinically diagnosed as type 1 diabetes have non-autoimmune monogenic diabetes. The distinction has important therapeutic implications but, given the low prevalence and high cost of testing, selecting patients to test is important. We tested the hypothesis that low genetic risk for type 1 diabetes can substantially contribute to this selection.

Interferon-gamma ELISPOT detecting reactivity of T cells to TSH receptor peptides in Graves' disease.

Objective: While thyrotrophin receptor (TSHR) is recognized as the main autoantigen in Graves' disease (GD), the actual antigen specificity of T cells that infiltrate the thyroid and the orbit is unknown. Identifying T cell responses to TSHR peptides has been difficult in the past due to the low frequency of autoreactive T cells and to the diversity of the putative epitopes identified by proliferation assays.

Methods: We used the interferon-gamma ELISPOT assay to identify T cell reactivity to TSHR peptides in patients with GD.

Rising serum thyroxine levels and chorea in graves' disease.

A 15-year-old girl presented with chorea as a first sign of Graves' hyperthyroidism. Chorea abated with antithyroid drug treatment and reappeared when hyperthyroidism recurred but not when thyrotropin receptor antibodies increased after administration of (131)I. Therefore, chorea in this patient is associated with hyperthyroxinemia and not with autoantibodies.

Effectiveness of pamidronate as treatment of symptomatic osteonecrosis occurring in children treated for acute lymphoblastic leukemia.

Background: Osteonecrosis (ON) is a severe complication of acute lymphoblastic leukemia (ALL) treatments. Recent studies suggest that bisphosphonates might reduce pain and loss of motor function in patients with ON. We assessed the effects of pamidronate compared to standard care in patients with symptomatic ON (sON) and studied whether steroids might be continued after diagnosis of ON in some patients.

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?

Objectives: To search for evidence of acute adrenal failure linked to inappropriate use of stress management protocols.

Study Design: Patients followed up for primary adrenal insufficiency (n = 102) or secondary adrenal insufficiency (n = 34) between 1973 and 2007 were included. All hospitalizations, both urgent (n = 157) and elective (n = 90), were examined.