Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.

Developmental anomalies of the appendicular skeleton are among the most common and easily ascertained birth defects. Split hand/split foot malformations, distinctive in having deficiency of the central rays, occur as isolated anomalies and as one component of multisystem syndromes. The clinical and molecular characterization of a new syndrome, found in two unrelated families, consisting of split foot with hearing loss, is presented here.

Inhibition of metabolic activation of 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone by limonene.

Previous work by others shows that d-limonene (LIM) inhibits carcinogen-induced lung tumorigenesis in mice and strongly suggests that LIM can inhibit the metabolic activation of nitrosamines such as 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). Thus, in the current study, the ability of LIM and other monoterpenes to inhibit the activation of the tobacco-specific NNK was examined in murine pulmonary and hepatic microsomes after addition in vitro or administration in vivo. LIM inhibited the metabolic activation of NNK in both pulmonary and hepatic microsomes.

Inhibition of metabolism of 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone by dietary benzaldehydes.

As part of a routine screening assay, benzaldehyde was found to inhibit 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) metabolism. Consequently, the effects of benzaldehyde and several structurally related compounds on NNK metabolism were examined in murine hepatic and pulmonary microsomes. All test compounds inhibited formation of the metabolites 4-oxo-4-(3-pyridyl)butyric acid (OPBA), 4-hydroxy-1-(3-pyridyl)-1-butanone (HPB), and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL) in hepatic microsomes and inhibited formation of 4-(methylnitrosamino)-1-(3-pyridyl-N-oxide)-1-butanone (NNK N-oxide), HPB, and NNAL in pulmonary microsomes.

Enhancement of esophageal carcinogenesis in male F344 rats by dietary phenylhexyl isothiocyanate.

The purpose of this study was to evaluate the potential effects of dietary 6-phenylhexyl isothiocyanate (PHITC) on N-nitrosomethylbenzylamine (NMBA)-induced esophageal carcinogenesis in rats. Groups of 15 male F344 rats received weekly s.c.