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Biomedical subjects

A Milunsky

Publications and source records attributed to A Milunsky.

At least 127 records · Page 7Linked to original sources
PubMed1980

Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein.

A monoclonal antibody specific for human alpha-fetoprotein (HAFP) was derived by the hybridoma technique. Spleen cells from mice immunized with pure HAFP were fused with a mouse myeloma cell line (P3x63-Ag-8) and an anti-HAFP secreting hybridoma cell line was cloned in soft agarose. The HAFP specific antibody was shown to be a monoclonal IgG1 subclass with extremely high avidity for HAFP.

Animals↗
PubMed1980

Prenatal diagnosis of neural tube defects. IV. Maternal serum alpha-fetoprotein screening.

The maternal serum alpha-fetoprotein (AFP) in 6161 women in routine pregnancy [2771 in a hospital obstetric clinic (group 1) and 3390 in private practices (group 2)] was studied. Group 1 studies enabled the delineation of the normal range of serum AFP, whereas group 2 represented a true screening experience. In group 2, 39 (2.5%) of 1566 women at 16 to 18 weeks' gestation had raised (2.5 times the median or more) serum AFP. Of these 39 women, 3 (7.8%) had neural tube defects (NTDs), 6 (15.4%) had multiple pregnancies, 1 (2.6%) had congenital nephrosis, 7 (17.9%) had spontaneous abortions, 7 (17.9%) had miscellaneous associated factors, and 15 (38.5%) had raised serum AFP for no obvious reason. Only 16 (1%) women had "unnecessary" amniocenteses. None of these aborted subsequently. Analysis of the combined data showed that NTDs were detectable in 87.5% of patients-all 6 with anencephaly and 1 of 2 with spina bifida (1 spina bifida lesion closed); multiple pregnancy was determined in 45% (18/40 cases), and spontaneous abortion ensued in 14.5%. In group 1 a raised serum AFP was associated with a host of complications in 77.3% of the women. Low AFP values had associated complications in 72.2% of cases. Maternal serum AFP screening represents another potentially important tool for early detection of high-risk pregnancy.

Amniocentesis↗
PubMed1979

Cell culture studies in progeria. I. Establishment and partial characterization of a lymphoblastoid cell line.

A lymphoblastoid cell line (EKS-L44) with definitive HLA specificities (HLA-Aw24, w30, B14, w35, Cw4-, DRw4, 5) was established from peripheral blood cells of a patient with progeria using Epstein-Barr virus. Cytogenetic study indicated that EKS-L44 was diploid after four months in vitro. The growth pattern of this cell line was not significantly different from a similarly established normal control nor from other lines initiated from patients with various disorders.

Cell Line↗
PubMed1979

Abnormal copper metabolism in Menke's steely-hair syndrome.

Copper (Cu) metabolism was selectively studied in seven infants with Menke's steely-hair syndrome (SHS). A daily oral regimen of CuSO4 (584 microgram Cu/kg) and L-histidine (100 mg/kg) in three infants produced an increase in serum Cu concentrations ranging from 33-95% of normal, but without the formation of ceruloplasmin. Cohn serum protein fractionation after oral Cu/L-histidine loading showed a disproportionate accumulation of Cu in the albumin fraction (V). The electron spin resonance spectrum of fraction V showed a heightened signal for the SHS patients, suggesting that an increased concentration of a radical Cu species is present after oral loading. The Sephadex G-150 chromatographic profile of serum fraction V in SHS did not differ significantly from controls. These results suggest that, in SHS, Cu absorbed in the presence of L-histidine is in an abnormal complex involving albumin, which does not allow for holoceruloplasmin biosynthesis. Cu and ceruloplasmin concentrations in the cord blood specimen of an infant who went on to develop SHS were normal, a finding which may account for the transient period of seemingly normal development after birth in SHS patients. An almost 6-fold difference in mean Cu concentration was observed in SHS fibroblasts compared to controls. Fibroblast Cu concentration was elevated in one to two possible maternal heterozygotes, a finding which may permit diagnosis of the carrier state for some SHS heterozygotes.

Blood Proteins↗
PubMed1979

Policy analysis for prenatal genetic diagnosis.

Consideration of the analytic difficulties faced in estimating the benefits and costs of prenatal genetic diagnosis, coupled with a brief review of existing benefit-cost studies, leads to the conclusion that public subsidy of prenatal testing can yield benefits substantially in excess of costs. The practical obstacles to such programs include the attitudes of prospective parents, a lack of knowledge, monetary barriers, inadequately organized medical resources, and the political issue of abortion. Policy analysis can now nevertheless formulate principles and guide immediate actions to improve present utilization of prenatal testing and to facilitate possible future expansion of these diagnostic techniques.

Abortion, Induced↗
PubMed1978

Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease.

A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay-Sachs, GM1-gangliosidosis and Fabry disease) is presented. This microassay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay-Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed.

Amniotic Fluid↗
PubMed1978

High performance liquid chromatography for the detection of homozygotes and heterozygotes of Niemann-Pick disease.

A method is developed for the detection of homozygotes and heterozygote carriers of Niemann-Pick disease type A by employing a high performance liquid chromatography (HPLC) technique for the measurement of sphingomyelin (SP) as well as for the assay of the enzyme sphingomyelinase (SPase) in skin fibroblasts and amniotic fluid cell cultures. A simple, less than 10-min, HPLC of the lipid extract of fibroblasts (about 2 x 10(6) cells) and measurement of the ratio of the area of SP peak to that of other phospholipids present in the cell-lipid extract show accumulation of SP in Niemann-Pick type A fibroblasts compared to normal. The SPase assay was performed by HPLC measurement of the substrate SP before and after hydrolysis by the enzyme. By employing this technique, it was shown that cells from patients with Niemann-Pick disease type A have less than 10% of the normal SPase activity, whereas the heterozygote carriers of this disease have about 50% of the normal activity.

Amniotic Fluid↗