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Biomedical subjects

R H Heller

Publications and source records attributed to R H Heller.

At least 19 recordsLinked to original sources
PubMed1988

Choosing among the physician databases.

Prudent examination and knowing how to ask the "right questions" can enable hospital marketers and planners to find the most accurate and appropriate database. The author compares the comprehensive AMA physician database with the less expensive MEDEC database to determine their strengths and weaknesses.

American Medical Association↗
PubMed1982

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals.

Serum samples from two unrelated, clinically normal individuals lacked detectable hexosaminidase A by heat inactivation and electrophoretic analysis. In contrast, 15 and 17% of the hexosaminidase in their leukocytes and 23 and 26% of the hexosaminidase of their cultured fibroblasts had the heat stability and electrophoretic properties of the A form of this enzyme. An in vitro measurement of fibroblasts GM2 ganglioside-beta-galactosaminidase was in the range expected for Tay-Sachs disease (TSD) heterozygotes (2.5 and 3.1 versus a normal mean of 3.7). In contrast, fibroblasts from a patient with TSD, analyzed in an identical fashion, contained no detectable activity. Ten days after addition of labeled GM2 ganglioside to the medium of the cultured fibroblasts, 43 and 59% of the radioactivity taken up by the cells of these patients remained as unhydrolyzed ganglioside as compared with 94% in TSD fibroblasts and 42% in control cells. An analysis of sphingolipid composition by high performance liquid chromatography although the endogenous level of GM2 was elevated in TSD fibroblasts (0.39 nmoles/mg protein) there was no increase in the cells of these patients (0 and 0.12 versus control of 0.17 nmoles/mg protein). Finally, the synthesis of hexosaminidase was examined by an electrophoretic analysis of immunoprecipitates of the enzyme precursors that had been radiolabeled by culturing fibroblasts in medium containing [3H]-leucine. These studies revealed a normal pattern of biosynthesis, processing and secretion of the alpha and beta chains. The ratio of the alpha chain to the beta chain, however, was in the range expected for TSD heterozygotes.

Adult↗
PubMed1979

Spontaneous abortion after midtrimester amniocentesis.

Of 371 consecutive patients who underwent midtrimester diagnostic amniocentesis, 8 subsequently aborted spontaneously (2.2%), and 1 had a stillbirth at 24 weeks of gestation (0.17%). In 3 of the 9 patients who suffered fetal loss, infection appears to have played a significant role. Whereas midtrimester diagnostic amniocentesis is widely considered to be a safe and accurate procedure, the possibility of hazard to the patient and her fetus remains and should be considered during the preliminary counseling session.

Abortion, Spontaneous↗
PubMed1978

Trisomy 21 in one of twin fetuses.

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twins fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Adult↗