9 research outputs found
Plasma homocysteine levels predict brachial artery vasoreactivity in patients with coronary artery disease
Pathology Case Study: Hyperammonemia
This is a case study presented by the University of Pittsburgh Department of Pathology in which a female neonate only two days old became lethargic and developed focal seizures. Visitors are given the high performance liquid chromatography, including images, and are given the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in pathology and clinical chemistry
An improved fluorometric leukocyte [beta]-glucosidase assay for Gaucher's disease
Three fluorometric leukocyte [beta]-glucosidase assays were compared for their ability to diagnose Gaucher's disease and identify carriers of the disorder: the acid [beta]-glucosidase assay of Beutler and Kuhl [2], a pH 5.5-sodium taurocholate-dependent assay and a new procedure which employs conduritol B epoxide, an active-site specific inhibitor of glucocerebrosidase. All three assays unambiguously identified patients with Gaucher's disease. With regard to identifying carriers the bile saltdependent assay of Peters et al. and the conduritol B epoxide-dependent procedure gave the greatest discrimination between the mean [beta]-glucosidase values for the control and heterozygote samples when evaluated using Student's t test. The most reliable assay for the identification of the carrier state was the conduritol B epoxide-dependent procedure which can be expected to provide the fewest false negative results when classifying heterozygotes (5%). However, the fact that none of these methods will completely separate control and heterozygote samples indicates that their use in screening programs will result in a significant number of incorrect assignments.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/24256/1/0000519.pd