Polyglandular autoimmune syndrome (PAS) has been well characterised and the accepted criteria for diagnosis are the presence of at least two of the three major components: hypoparathyroidism (HPT

BACKGROUND AND PURPOSE: Time-resolved MR angiography (MRA) offers the combined advantage of large anatomic coverage and hemodynamic flow information. We applied parallel imaging and time-resolved imaging with stochastic trajectories (TWIST), which uses a spiral trajectory to undersample k-space, to perform time-resolved MRA of the extracranial internal carotid arteries and compare it to time-of-flight (TOF) and high-resolution contrast-enhanced (HR) MRA.

Disparities in the utilization of surgical resection for patients with early-stage, resectable pancreatic cancer are associated with socioeconomic variables including race, ethnicity, marital status, insurance status, and geographic location. Of these factors, only geographic location is independently associated with survival in patients undergoing resection.

Objectives-To identify infants with hyperinsulinism caused by defects of the β-cell adenosine triphosphate-dependent potassium channel complex and to distinguish focal and diffuse forms of hyperinsulinism caused by these mutations.Study design-The acute insulin response to intravenous calcium stimulation (CaAIR) was determined in 9 patients <20 years with diffuse hyperinsulinism caused by defective β-cell sulfonylurea receptor (SUR1 −/− ), 3 patients with focal congenital hyperinsulinism (6 weeks to 18 months), a 10-year-old with insulinoma, 5 with hyperinsulinism/hyperammonemia syndrome caused by defective glutamate dehydrogenase (6 months to 28 years), 4 SUR1 +/− heterozygotes with no symptoms, and 9 normal adults. Three infants with congenital focal disease, 1 with diffuse hyperinsulinism, and the child with insulinoma underwent selective pancreatic intra-arterial calcium stimulation with hepatic venous sampling.Results-Children with diffuse SUR1 −/− disease and infants with congenital focal hyperinsulinism responded to CaAIR, whereas the normal control group, patients with hyperinsulinism/hyperammonemia syndrome, and SUR1 +/− carriers did not. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling revealed selective, significant step-ups in insulin secretion that correlated anatomically with the location of solitary lesions confirmed surgically in 2 of 3 infants with congenital focal disease and in the child with insulinoma. Selective arterial calcium stimulation of the pancreas with hepatic venous sampling demonstrated markedly elevated baseline insulin levels throughout the pancreas of the infant with diffuse hyperinsulinism. Congenital hyperinsulinism, the most common cause of persistent hypoglycemia in infants beyond the first few days of life, 1 can result from genetic defects of the pancreatic β-cell including autosomal recessive mutations of the sulfonylurea receptor gene 2 or inwardrectifying 6.2-kDa potassium channel, 3,4 which together compose the β-cell adenosine triphosphate-de-pendent potassium channel complex. Other defects that can cause congenital hyperinsulinism are autosomal dominant mutations of islet glucokinase 5 or glutamate dehydrogenase, the latter causing the hyperinsulinism/hyperammonemia syndrome. 6 Recessive SUR mutations (SUR1 −/− ) compose the most common and most severe form of congenital hyperinsulinism. 7,8 Affected infants are usually large for gestational age and have hypoglycemia in the first few postnatal days. 1 Children with SUR1 −/− hyperinsulinism usually fail to respond to treatment with diazoxide, a drug that acts on the SUR to suppress insulin secretion 9 and may require near total pancreatectomy to control hypoglycemia. 10 More than a third of patients with congenital hyperinsulinism requiring surgery have focal adenomatous hyperplasia of islet cells. [10][11][12] Surrounded by normal pancreas, these cells express a paternally derived SUR1 mutation in association with specific loss of imprinted maternal alleles of chromosome 1...