Tay-Sachs disease is a severe, inherited disease of the nervous system caused by accumulation of the brain lipid GM2 ganglioside. Mouse models of Tay-Sachs disease have revealed a metabolic bypass of the genetic defect based on the more potent activity of the enzyme sialidase towards GM2. To determine whether increasing the level of sialidase would produce a similar effect in human Tay-Sachs ce...

CONTEXT Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populatio...

INTRODUCTION Hills-Sachs lesions are commonly associated with anterior shoulder dislocations and can be a source of recurrent instability. Studies have shown that, even after soft tissue repair of a Bankart lesion, there is still a risk for redislocation in a patient with significant bony defects. The purpose of this study is to ascertain whether balloon humeroplasty is an effective technique o...

A consequence of non-Gaussian perturbations on the Sachs-Wolfe effect is studied. For a particular power spectrum, predicted Sachs-Wolfe effects are calculated for two cases: Gaussian (random phase) configuration, and a specific kind of non-Gaussian configuration. We obtain a result that the Sachs-Wolfe effect for the latter case is smaller when each temperature fluctuation is properly normaliz...

Shoulder surgeons need to be aware of the critical size of the glenoid or humeral osseous defects seen in patients with anterior shoulder instability, since the considerable size of osseous defect is reported to cause postoperative instability. Biomechanical studies have identified the size of the osseous defect which affects stability. Since engagement always occurs between a Hill-Sachs lesion...

Recurrent anterior shoulder dislocation often leads to the presence of a Hill-Sachs lesion. A large Hill-Sachs lesion compromises shoulder stability and should be addressed with bone augmentation when it is too deep. Here, we introduce a method of arthroscopic bone grafting of the humeral head for the treatment of a deep Hill-Sachs lesion in patients with anterior shoulder instability. Our indi...