Hexosaminidase A is present in relatively low concentrations in cell-free amniotic fluids from pregnancies with Tay-Sachs fetuses. This isoenzyme was determined by an immunological procedure, radial immunodiffusion, by which hexosaminidase A can be directly and specifically detected, even in the presence of excess amounts of hexosaminidase B. No hexosaminidase A could be detected by the same pr...

A cancer immune signature implicating good prognosis and responsiveness to immunotherapy was described that is observed also in other aspects of immune-mediated, tissue-specific destruction (TSD). Its determinism remains, however, elusive. Based on limited but unique clinical observations, we propose a multifactorial genetic model of human cancer immune responsiveness.

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...

The results presented here provide the first single-cell genetic assay for Tay-Sachs disease based on real-time PCR. Individual lymphoblasts were lysed with an optimized lysis buffer and assayed using one pair of primers that amplifies both the wild type and 1278 + TATC Tay-Sachs alleles. The resulting amplicons were detected in real time with two molecular beacons each with a different colored...

Hexosaminidase activity was determined in cultured and uncultured amniotic fluid cells taken from seven pregnant women who had previously given birth to infants with Tay-Sachs disease. Complete deficiency of hexosaminidase A was found in one case, indicating a Tay-Sachs fetus. The diagnosis was confirmed on examination of various tissues after therapeutic abortion. Of the other six cases three ...