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Biomedical subjects

A Saifer

Publications and source records attributed to A Saifer.

6 recordsLinked to original sources
PubMed1976

Identification of Tay-Sachs by hexosaminidase analysis of urine and tear samples.

1. Two readily obtainable biological fluids, i.e., urine and tears, were investigated as possible substitutes for serum and leukocytes for the detection of Tay-Sachs disease (TSD) heterozygotes based on Quantitative hexosaminidase A (Hex A) determinations. 2. Hexosaminidase isoenzyme patterns were determined, by means of an automated DEAE-cellulose microcolumn procedure, for serum, urine and tear samples from normals, TSD carriers, normal pregnancies, carrier-pregnancies and TSD children. 3. Normal pregnancy and TSD carrier sera gave almost identical hexosaminidase patterns with multiple intermediate peaks. Whereas, urine and tear samples from normal pregnant women showed hexosaminidase isoenzyme patterns resembling those of normal controls. These results suggested that use of these fluids might eliminate the effect of pregnancy of the Hex A ratio which occurs when serum is used as the test fluid. In addition these fluids are most economical and simpler to obtain than a blood sample. 4. About 200 urine samples, from the various categories listed above, were analyzed for Hex A with both the heat denaturation and pH inactivation methods and the results compared with serum and leukocyte levels from many of the same individuals. With either method, the wide overlap between the urinary Hex A normal and heterozygote ranges would require retesting with leukocytes of about 30% of the subjects. These results would preclude the use of urines as a suitable fluid for the mass screening of the Ashkenazic Jewish population for TSD heterozygotes.

Autoanalysis↗
PubMed1976

P-Hydroxybenzoic acid hydrazide procedure for serum glucose adapted to the Technicon "SMA 12/60," and compared with other glucose methods.

We adapted the p-hydroxybenzoic acid hydrazide procedure for serum glucose for use with the Technicon SMA 12/60 AutoAnalyzer. Like the o-toluidine method, this method is based on a general carbohydrate reaction except that it occurs in a mildly alkaline medium and the intense yellow color formed is measured at 400 nm. Advantages of this reagent over o-toluidine include lower cost, less toxicity, and higher purity. Aside from those carbohydrates that are present in serum in insignificant quantities, there are no interferences from various physiological compounds or drugs (hypoglycemic agents) found either in normal persons or diabetics. Within-run and day-to-day values had coefficients of variation of 1.39% and 3.44%, respectively; recoveries ranged from 100 to 102% (mean, 101%). Comparative data showed excellent agreement with the hexokinase (r equals 0.998; y equals 0.950x + 5.91) and glucose oxidase (r equals 0.996; y equals 0.986x + 5.34) enzymatic ("true") glucose methods, and with the o-toluidine procedure (r equals 0.998; y equals 0.979x + 3.14).

Autoanalysis↗
PubMed1975

Automated differentiation and measurement of hexosaminidase isoenzymes in biological fluids and its application to pre- and postnatal detection of Tay-Sachs disease.

Three hexosaminidase (EC 3.2. 1.52) isoenzymes other than isoenzymes A and B in body fluids have been separated by chromatography on diethylaminoethyl cellulose. By inserting a microcolumn into a continuous-flow system for automated, fluorometric hexosaminidase analysis [Clin. Chem. 20, 538 (1974)], samples eluted with buffered-NaCl gradients can be continuously monitored. Isoenzyme patterns were obtained for fluids from normal individuals, pregnant women, Tay-Sachs disease carriers, pregnant carriers, and patients with the disease. These chromatograms revealed a hitherto undetected isoenzyme (I-3) in serum. An increase in serum hexosaminidase isoenzyme I-2 (or P) during pregnancy is characteristic of a carrier pattern. Our data show that serum and urinary hexosaminidase isoenzyme patterns may be used in addition to leukocyte analysis, to distinguish a pregnant carrier from a normal pregnant woman. All fluids tested demonstrated no isoenzyme A activity and above-normal activity of isoenzymes B and (or) I-2 in homozygotes. Urine is preferred fluid for postnatal and amniotic fluid for the prenatal diagnosis of the disease. Quantitative data on isoenzyme A obtained with the procedure described here agree well with those obtained by heat-and pH-inactivation methods.

Adult↗