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At least 829 records · Page 46Linked to original sources
PubMed1996

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.

Acute fatty liver of pregnancy (AFLP) is a devastating late gestational complication with many similarities to the inherited disorders of mitochondrial fatty acid oxidation. We report the molecular defects in a woman with AFLP and her infant who subsequently was diagnosed with trifunctional protein (TFP) deficiency. We used single-stranded conformation variance and DNA sequence analyses of the human TFP alpha-subunit gene, which encodes the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity, to demonstrate a C to T mutation (C1678T) in exon 16 present on one allele in the mother and the affected infant. This creates a premature termination codon (R524Stop) in the LCHAD domain. Using reverse transcriptase-PCR amplification of the alpha-subunit mRNA from cultured fibroblasts, we demonstrated that transcripts containing this R524Stop mutation are present at very low levels, presumably because of rapid mRNA degradation. The affected infant also had the common E474Q mutation (nucleotide G1528C) on the second allele. Thus, he is a compound heterozygote. The father and two normal siblings are heterozygous for this E474Q mutation. This initial delineation of the R524Stop mutation provides evidence of the heterogeneity of genetic defects responsible for TFP deficiency and AFLP.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1997

Maternal schooling and comprehension of child health information in urban Zambia: is literacy a missing link in the maternal schooling-child health relationship?

This paper examines the relationship between literacy skills and comprehension of health information by studying mothers of young children in a high-density urban area in Zambia. Both decontextualized language and print literacy skills were assessed for each woman and the resulting scores were related to her comprehension of both broadcast and printed health information. The results indicate that fluency in a language is not sufficient for full comprehension of broadcast messages in the decontextualized type of language used in bureaucratic communication, and that a woman's ability to use decontextualized language is associated with greater comprehension of such messages. Skill in using this type of language increases with years of schooling, even in the poorly equipped schools in Zambia, as does print literacy, even though the levels of comprehension achieved are well below their grade level on average for these women. Some implications of these findings for both health care providers and educators are then considered.

Adolescent↗