Introduction

In 1965 Harry Angelman first reported on three patients with severe mental retardation, who had ''flat heads, jerky movements, protruding tongues and bouts of laughter'' that ''gave them specific resemblance to puppets.'' This was the first report on a devastating condition that was for some time referred to as the ''happy puppet syndrome'' but is currently known as Angelman syndrome (AS).

Angelman syndrome is an example of imprinted gene abnormality in humans. The gene, the function of which is deficient in at least 85% of AS cases, E6-AP-ubiquitine-ligase (UBE3A) shows brain-specific imprinting in that only its maternal allele is active in the brain. Four known molecular mechanisms can lead to UBE3A deficiency. For the remaining 15% of patients the underlying mechanism is unknown. Although the recurrence risk for subsequent pregnancies in most affected families is low, in some cases it can reach 50%. As no single laboratory test can identify all AS cases and subtypes, using a sequential diagnostic testing algorithm is suggested.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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