Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.

Congenital hyperinsulinism (CHI) is a rare metabolic disease characterized by inappropriate insulin secretion in the presence of hypoglycemia. We describe the clinical presentation and management of congenital hyperinsulinism and persistent hypoglycemia in two infants. Both patients had an initial clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) but normal methylation analysis for LIT1 and H19 status.

Evaluating practice patterns for managing moderate to severe plaque psoriasis: role of the family physician.

Objective: To describe practice patterns for care of Canadian patients with moderate to severe plaque psoriasis.

Design: Online survey of a consumer panel.

Setting: Participants were drawn from a population-wide Canadian consumer database.

A Canadian online survey to evaluate awareness and treatment satisfaction in individuals with moderate to severe plaque psoriasis.

Background: Psoriasis is a chronic inflammatory disease associated with comorbidities and decreased quality of life. This survey is aimed to better understand the impact of disease on Canadian patients, and to examine awareness and use of available treatment options.

Methods: An online survey was conducted using a consumer panel.

A Canadian self-administered online survey to evaluate the impact of moderate-to-severe psoriasis among patients.

Background: Few population studies of individuals living with psoriasis have been performed in Canada.

Objective: The objective of this survey was to understand the severity and impact of psoriasis on the lives of Canadian patients.

Methods: An online survey was conducted using a consumer panel.

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to 85% and 10 to 15% of the cases, respectively. Significant interfamilial and intrafamilial renal disease variability in ADPKD has been well documented.