Spreadsheets are active documents that are heavily employed in administration, financial forecasting, education, and science because of their intuitive, flexible, and direct approach to computation. But they are also error-prone, poorly documented, often contain actual data in legacy form. Therefore, assistance for high-impact spreadsheet users is needed. To determine what kind of help could be...

To assess the feasibility of screening the single Jewish population for Tay-Sachs disease (TSD), a questionnaire examining the knowledge of and attitudes toward TSD and genetic screening was sent to 348 Yale University Jewish undergraduates. Of those students responding (63 percent), 78 percent were able to answer general genetic questions correctly while only 1.9 percent could answer specific ...

Posterior shoulder instability occurs less often than anterior shoulder instability but is increasingly recognized as a relatively common condition. The reverse Hill-Sachs lesion is present in some patients with posterior instability and is best described as an impaction fracture of the anterior humeral head. These reverse Hill-Sachs lesions can predispose the patient to recurrent instability e...

Arthroscopic Bankart repair is now a well-established technique for the treatment of shoulder instability. However, failure rates are considerable when significant bony defects are not addressed. Hill-Sachs lesions, present in the vast majority of those with recurrent anterior instability, when of significant dimension and location, may account for some of these failures. The remplissage proced...

To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-...

“Language has never been accessible to me in the way that it was for Sachs. I’m shut off from my own thoughts, trapped in a no-man’s_land between feeling and articulation, and no matter how hard I try to express myself, I can rarely come up with more than a confused stammer. Sachs never had any of these difficulties. Words and things matched up for him, whereas for me they are constantly breaki...

BACKGROUND Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. PATIENT We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental re...

BACKGROUND To assess the outcome of the remplissage arthroscopic surgical method in patients with anterior shoulder dislocation associated with Hill-Sachs lesion. METHODS Ten patients with anterior shoulder dislocations and Hill-Sachs lesions were entered into this study and were operated on by the remplissage arthroscopic surgical method. They were followed up 22 months after surgery in orde...

Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. It results from mutations of the HEXA gene encoding the alpha subunit of beta-hexosaminidase, producing a destructive ganglioside accumulation in lysosomes, principally in neurons. With the determination of the protein sequence of the alpha and beta subunits, deduced from cDNA sequences, the complex pathway of subce...