Linked Life Data

675673

Source:http://linkedlifedata.com/resource/pubmed/id/675673

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1978-9-25
pubmed:abstractText
Prenatal diagnosis was successfully accomplished by determining sphingomyelinase activity in the cultured amniotic fluid cells in a case of high risk pregnancy for Niemann-Pick disease (NPD), type A. No detectable activity of sphingomyelinase was found in the cultured amniotic fluid cells obtained at the 17th week of gestation. Patient's pregnancy was terminated and the aborted fetus was proved to be affected with NPD. The liver, brain and skin fibroblasts from the aborted fetus revealed a markedly diminished activity of sphingomyelinase. Sphingomyelin content in the liver of the affected fetus was found to be increased approximately sevenfold as compared with that in a control fetus liver. On the other hand, there was no increase of sphingomyelin in the brain from the affected fetus. No significant increase in cholesterol content was found in the liver and brain from the affected fetus. Electron-microscopic findings revealed membranous cytoplasmic bodies and electron dense material with vacuoles in cytoplasm of the liver cell and a number of Zebra body-like inclusions in the cerebral vessel wall. Biochemical and histological findings of the NPD fetus indicate that there is the progress of the disorder already in the midtrimester of gestation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0040-8727
pubmed:author
pubmed:issnType
Print
pubmed:volume
125
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
11-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Prenatal diagnosis and fetal pathology of Niemann-Pick disease.
pubmed:publicationType
Journal Article, Case Reports