Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.

Dihydropyrimidinase (DHP, EC 3.5.2.2) is the second enzyme of the pyrimidine degradation pathway and a deficiency of this enzyme is responsible for a rare inborn metabolic syndrome characterized by dihydropyrimidinuria. Here we report a cat with DHP deficiency, manifesting malnutrition, depression, vomiting, and hyperammonemia. A gas chromatographic-mass spectrometric analysis of urinary metabolic substances showed the presence of large amounts of dihydrouracil and dihydrothymine and moderate amounts of uracil and thymine, suggesting DHP deficiency. Analysis of the feline DPYS gene encoding DHP demonstrated that the cat was homozygous for the missense mutation c.1303G>A (p.G435R) in exon 8, which corresponds to a known mutation in a human patient with DHP deficiency. Population screening in 1,000 cats did not reveal any animal possessing this mutation, suggesting the prevalence of the mutant allele to be very low. This is the first report of naturally occurring DHP deficiency in animals and the cat represents a model of the human disease.

Measurement of shear wave propagation and investigation of estimation of shear viscoelasticity for tissue characterization of the arterial wall.

PURPOSE: The aim of this study was to find an array of frequency components, ranging from 0 Hz (direct current) to several tens of hertz that comprise the small vibrations on the arterial wall using noninvasive in vivo experiments. These vibrations are caused mainly by blood flow. The viscoelasticity of the arterial wall was estimated from the frequency characteristics of these vibrations propagating from the intima to the adventitia. METHODS: Propagation of these frequencies in human tissue displays certain frequency characteristics. Based on the Voigt model, shear viscoelasticity can be estimated from the frequency characteristics of the propagating vibrations. Moreover, we estimated shear viscoelasticity from the measured frequency characteristics of shear wave attenuation. RESULTS: Shear wave propagation from the intima to the adventitia resulting from blood flow was explained theoretically based on the obtained measurements. Shear viscoelasticity was also estimated from the measured frequency characteristics of shear wave attenuation. CONCLUSIONS: Based on the proposed method, shear viscoelasticity can be estimated from ultrasonographic measurements. These results have a novel potential for characterizing tissue noninvasively.