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Biomedical subjects

A Milunsky

Publications and source records attributed to A Milunsky.

At least 19 recordsLinked to original sources
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↗
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↗
PubMed1977

Amniotic fluid fibrinogen degradation products in the prenatal diagnosis of neural tube defects.

Elevated levels of fibrin(ogen) degradation products (FDP) have been detected in second-trimester amniotic fluid in association with open neural tube defects (NTD'S) in the fetus. The FDP assay has been proposed for the prenatal diagnosis of NTD's and in this paper is compared with the established use of the alpha-fetoprotein (AFP) assay. FDP and AFP levels were measured in 132 amniotic fluid samples, including 20 NTD cases. The false negative and false positive rates for the FDP assay are high compared with the AFP assay, but it may be of value as an adjunct assay to reduce the over-all false positive rate.

Amniocentesis↗
PubMed1977

Disaccharidase and lysosomal enzyme activities in amniotic fluid, intestinal mucosa and meconium. Correlation between morphology and disaccharidase activities in human fetal small intestine.

Brush border membrane bound disaccharidases (sucrase and maltase) and lysosomal enzyme (alpha-glucosidase, beta-D-fucosidase and N-acetyl-beta-glucosaminidase) activities awere studied in amniotic fluid (AF). The above enzymes except N-acetyl-beta-glucosaminidase showed a decrease in activity with gestational age beginning at about the 19th week. The activities of sucrase and maltase correlate with the morphological maturation of fetal intestinal mucosa. The distribution of disaccharidases and lysosomal alpha-glucosidase in AF and intestinal mucosa showed different patterns suggesting that these enzymes originate in diverse fetal tissues.

Acetylglucosaminidase↗