SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85α regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.

Effect of pramipexole on RLS symptoms and sleep: a randomized, double-blind, placebo-controlled trial.

Background: Patients with Restless Legs Syndrome (RLS) often seek treatment because of sleep problems related to nocturnal symptoms. Our goal was to test the ability of pramipexole to improve sleep in RLS patients and to reconfirm its efficacy for primary RLS symptoms.

Methods: Adults with moderate or severe RLS were randomized to receive placebo or pramipexole (flexibly titrated from 0.

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

Objective: Mutations in the insulin (INS) gene can cause neonatal diabetes. We hypothesized that mutations in INS could also cause maturity-onset diabetes of the young (MODY) and autoantibody-negative type 1 diabetes.

Research Design And Methods: We screened INS in 62 probands with MODY, 30 probands with suspected MODY, and 223 subjects from the Norwegian Childhood Diabetes Registry selected on the basis of autoantibody negativity or family history of diabetes.

[Primary adrenal failure--causes, diagnostics and therapy].

Background And Methods: An overview of primary adrenal failure with emphasis on replacement therapy is presented. The article is based on a review of recent literature and authors' personal experience.

Results And Conclusions: Addison's disease is usually caused by an autoimmune destruction of the adrenal cortex.