ABSTRACT
The Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly.
Subject(s)
Basal Cell Nevus Syndrome/diagnostic imaging , Ultrasonography, Prenatal , Adult , Basal Cell Nevus Syndrome/embryology , Cerebral Ventricles/diagnostic imaging , Cerebral Ventricles/embryology , Female , Head/diagnostic imaging , Head/embryology , Humans , Infant, Newborn , PregnancyABSTRACT
Marked changes in rates of drug metabolism occur during adolescence; however, biochemical events underlying alterations in drug metabolism in whole hepatocytes during this period of development are not well established. Accordingly, metabolism of 7-ethoxycoumarin, a model substrate for mixed-function oxidation, was studied in hepatocytes isolated from prepubescent and postpubescent male rats. Rates of 7-ethoxycoumarin O-deethylation increased 2.4-fold from 65 to 154 pmol/10(6) cells/min in intact hepatocytes during the narrow period of adolescence. In contrast, microsomal 7-ethoxycoumarin O-deethylase was the same in preparations from the two groups of animals. 7-Hydroxycoumarin glucuronide production in hepatocytes increased 2-fold and sulfate formation increased 16-fold across puberty. The results indicate that increases in drug metabolism, particularly sulfate conjugation, are mediated by biochemical events in addition to increases in total amounts and specific activities of hepatic drug-metabolizing enzymes.
Subject(s)
Aging/metabolism , Coumarins/metabolism , Liver/metabolism , Animals , Coumarins/pharmacology , Fatty Acids/blood , Glycogen/metabolism , Liver/enzymology , Male , Rats , Rats, Sprague-Dawley , Sulfotransferases/metabolismABSTRACT
The cost-effectiveness of screening for pharyngeal gonorrhea (PG) in an adolescent clinic population was examined in the context of dramatically decreasing prevalence. Chart review revealed that the apparent PG prevalence had decreased from 15/555 (2.7%) 8 years ago to 0/319 (0.0%) recently in the clinic population studied. The earlier high prevalence of PG probably represented poor laboratory test specificity. Cost analysis showed that only at very high prevalence of PG (greater than 8%) would pharyngeal screening be cost-effective unless PG can be shown to be an important source of genital infection. We concluded that continued pharyngeal screening is not justified in our clinic because prevalence is so low.
