Search PubMed⌕ Search

Biomedical subjects

A Milunsky

Publications and source records attributed to A Milunsky.

At least 145 records · Page 8Linked to original sources
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↗
PubMed1977

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

Profound iduronate sulfatase deficiency, characteristic of the Hunter syndrome, has been found in cultured fibroblasts, serum, lymphocytes, and tissues of two clinically affected girls. The patients are karyotypically normal and have normal fathers; cloning of the mothers' fibroblasts did not reveal the mosaicism expected of carriers of an X-linked disease. Homozygosity for a previously unsuspected autosomal recessive gene for iduronate sulfatase is considered the most likely explanation, although heterozygosity for the X-linked gene and subsequent selection cannot be completely excluded.

Child↗
PubMed1977

Prenatal genetic diagnosis.

More than 100,000 children are born in the U.S. each year with major congenital defects or genetic disorders, with or without mental retardation. Advances in prenatal diagnosis have now made it possible to detect an increasing number of these disorders in utero. Carrier detection is advised prior to pregnancy, rather than after the birth of a defective child, or during pregnancy itself. Patients have a right to know about their genetic risks and should have the freedom to exercise their options.

Amniocentesis↗
PubMed1977

Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay.

Alpha-fetoprotein was measured in 2209 amniotic fluid samples under improved assay conditions. All cases of open neural tube defects had elevated values greater than 5 SD above the mean. The false positive rate based on the 3 SD cutoff is estimated at less than 9.15%. Alpha-fetoprotein assays are recommended for all patients undergoing second trimester amniocentesis, optimally between 14 and 16 weeks' gestation.

Adult↗
PubMed1976

Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes.

The mean specific activity of alph-L-iduronidase in leukocytes from six obligate heterozygotes for Hurler's syndrome was found to be slightly less than one-half of the mean in normal controls; no overlap of normal and known heterozygote values was encountered. The assay has been applied with success to six potential heterozygotes, siblings of a child with Hurler's syndrome. Thus heterozygote detection of Hurler's syndrome is clearly possible; this finding, as well as the ready availability of leukocytes for screening tests, recommends their use for examination of potential carrier status in this disorder.

Adult↗
PubMed1976

Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts.

The enzyme defect in Farber disease, a deficiency of acid ceramidase, has been demonstrated in cultured skin fibroblasts, which provides a means of confirming the diagnosis during life. The assay can also be performed using cultured amniotic fluid cells and is a potential tool for detection of carriers of the disease.

Amidohydrolases↗