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Biomedical subjects

A Milunsky

Publications and source records attributed to A Milunsky.

At least 163 records · Page 9Linked to original sources
PubMed1976

Cholesterol metabolism in cultured fibroblasts in adrenoleukodystrophy.

The basic biochemical defect of X-linked adrenoleukodystrophy (sudanophilic leukodystrophy, Schilder's disease) is unknown. To investigate reported abnormalities in cholesterol metabolism in vitro, we examined cultured skin fibroblasts of four patients and four normal control subjects. The kinetics of retention and accumulation of [14C]cholesterol by these cells was studied. After 3 days of exposure to tracer amounts of [14C]cholesterol, an apparent steady state between the medium and cellular cholesterol was established. The specific radioactivity expressed per mg of protein was similar for both Schilder and control fibroblasts. tafter labeling the pre-existing cellular cholesterol pool, the rate of loss of label was followed up for a 6-day period. About 23% and 14%, respectively, of the cellular radioactivity in both Schilder's disease and control cells were released into the medium after the consecutive change with fresh nonlabeled medium. No significant differences in [14C]cholesterol rates of uptake or release were observed between control and Schilder's disease fibroblasts. About 44% of the labeled cholesterol was present in an esterfied form after incubation in the presence of unheated serum in both Schilder's and control cultures.

Adolescent↗
PubMed1976

Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay.

The alpha-fetoprotein (AFP) assay is now an established tool for the prenatal diagnosis of neural tube defects (NTDs). About 90% of these defects are diagnosable prenatally early in the second trimester, the other 10% consisting of closed lesions that are not amenable to this approach. From the analysis of our 2495 consecutive cases, 49 NTDs were diagnosed with AFP levels 3 SD above the mean. One closed NTD sample, as expected, did not have an elevated AFP level. Various other fetal disorders or conditions were also associated with elevated AFP levels. AFP assays on amniotic fluids from 1858 patients without a family history of NTD and studied primarily for fetal karyotyping yielded a frequency of 1 NTD in 310 cases. Any amniotic fluid study in the second trimester of pregnancy should include an assay for AFP.

Abnormalities, Multiple↗
PubMed1976

Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results.

Certain problems and pitfalls attend the use of the alpha-fetoprotein (AFP) assay for the prenatal diagnosis of neural tube defects (NTDs). Analysis of 2495 consecutive cases revealed 57 (2.3%) with amniotic fluid AFP levels greater than 3 SD above the mean. Fetal deaths (9), various fetal abnormalities, (7) and spontaneous abortions (4) occurred among this group. In addition, there were 30 cases with AFP levels greater than + 3 SD above the mean in which a normal child was delivered--a true false positive rate of 1.2%. To determine if the false positive rate could be diminished, 40 amniotic fluid samples with AFP greater than + 2 SD were subjected to further detailed analysis for fetal hemoglobin, total protein, and IgM concentrations. Even with this battery of tests, we estimate that between 1 and 2% of normal amniotic fluids have elevated AFP levels and either fall as expected outside the + 3 SD range, or have elevated AFP levels due to unknown causes.

Amniocentesis↗
PubMed1975

The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders.

Major advances in prenatal genetic diagnosis have occurred in the past few years which pose difficult challenges to the law. This paper raises questions relative to family history taking, genetic counseling, carrier detection, amniocentesis, and prenatal genetic studies, and also raises questions with respect to the rights and responsibilities of the patient, the fetus, the physician, and society in light of such modern advances. Law reform often occurs only after prior harm to an individual, family or group. Perception and delineation of the most important issues in this area should serve to stimulate the development of medicolegal guidelines and corrective legislation prior to the occurrence of a genetic tragedy.

Amniocentesis↗