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BACKGROUND Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in(More)
OBJECTIVE To evaluate the efficacy of the addition of insulin when maximal sulfonylurea therapy is inadequate in individuals with type 2 diabetes. RESEARCH DESIGN AND METHODS Glycemic control, hypoglycemia, and body weight were monitored over 6 years in 826 patients with newly diagnosed type 2 diabetes in 8 of 23 U.K. Prospective Diabetes Study (UKPDS)(More)
OBJECTIVE This study sought to examine the effects of a 3-month programme of dietary advice to restrict carbohydrate intake compared with reduced-portion, low-fat advice in obese subjects with poorly controlled Type 2 diabetes. RESEARCH DESIGN AND METHODS One hundred and two patients with Type 2 diabetes were recruited across three centres and randomly(More)
CONTEXT Alström syndrome (AS) is a monogenic form of infancy-onset obesity and insulin resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is unknown, in particular how this relates to changes in body composition. It is also unclear how ALMS1 mutations relate to the characteristic phenotype. OBJECTIVES Our objectives were(More)
The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (KATP) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas.(More)
Blood glucose concentrations during normal daily activities were measured in 106 patients with maturity-onset diabetes from capillary blood samples collected on to filter paper. Samples were taken before and two hours after main meals, before going to bed, and, in 51 cases, during the night. Fasting and mid-morning values were closely correlated with the(More)
OBJECTIVE To document frequency of severe hypertriglyceridaemia in Alström's syndrome (AS) and its relationship to hepatic and renal function, glycaemia and insulin resistance. PATIENTS AND METHODS Thirty-seven subjects with AS aged 5-35 years, 51% male, were assessed at multidisciplinary clinics in Canada, UK and Italy. Diagnostic criteria were: severe(More)
PURPOSE OF REVIEW Recent studies have begun to evaluate the heterogeneity of insulin resistance in syndromes associated with type 2 diabetes, dyslipidaemia and associated cardiac, renal and hepatic consequences. These insights are of particular importance in Alström syndrome in which all of these conditions coexist from a young age with considerable(More)
1.5 Mutational spectrum There have been 98 different disease-causing mutations described thus far including nonsense (49%), indels (43%), and rare compound frameshift, and splice site (3%).1 Two missense alterations of uncertain pathogenicity were reported by Joy et al.2 The majority of those are clustered in exon 16 (41%), exon 10 (27%), and exon 8 (25%)(More)