Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A. Hex B (beta beta homodimer) is also defective in Sandhoff disease. We previously developed mouse models of both disease...

The GM2 activator deficiency (also known as the AB variant), Tay-Sachs disease, and Sandhoff disease are the major forms of the GM2 gangliosidoses, disorders caused by defective degradation of GM2 ganglioside. Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A. The GM2 activator deficiency is caused by mutations in...

The Hill-Sachs lesion is an osseous defect of the humeral head that is typically associated with anterior shoulder instability. The incidence of these lesions in the setting of glenohumeral instability is relatively high and approaches 100% in persons with recurrent anterior shoulder instability. Reverse Hill-Sachs lesion has been described in patients with posterior shoulder instability. Gleno...

The theory of quasiconformal mappings is nearly 50 years old (see [44] for references to the papers by Grötzsch, Ahlfors Lavrent'ev and Morrey from the 20's and 30's) and the interest in them does not seem to wane. These mappings may be studied for their own sake or as a tool for attacking other mathematical problems; they are indeed a powerful and flexible tool. The purpose of this lecture is ...

To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling. We succeeded in producing the modified HexB ...

OBJECTIVE To evaluate the clinical result from the filling ("remplissage") technique in association with Bankart lesion repair for treating recurrent anterior shoulder dislocation. METHODS Nine patients (10 shoulders), with a mean follow-up of 13.7 months, presented traumatic recurrent anterior shoulder dislocation. All of them had a Bankart lesion, associated with a Hill-Sachs lesion showing...