Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation

1993 ◽  
Vol 39 (3) ◽  
pp. 380-385 ◽  
Author(s):  
A H van Gennip ◽  
S Busch ◽  
L Elzinga ◽  
A E Stroomer ◽  
A van Cruchten ◽  
...  

Abstract Recent findings suggest that inborn errors of pyrimidine catabolism are less rare than generally assumed. We propose a complete set of diagnostic methods for these disorders, suitable for the clinical chemistry laboratory, and present relevant reference data. Applications of thin-layer chromatography, high-performance liquid chromatography, and conventional cation-exchange amino acid analysis lead to detection of various defects in pyrimidine degradation, including the recently described deficiencies of dihydropyrimidine dehydrogenase and dihydropyrimidinase. We also illustrate the potential of the methods to analyze for the catabolites expected to be increased in the urine of patients with ureidopropionase deficiency. Possible pitfalls in the diagnosis and ways to prevent misdiagnosis are demonstrated. The methods offer possibilities for clinical chemistry laboratories to extend their diagnostic capacity to the new area of pyrimidine degradation defects.

1962 ◽  
Vol 8 (5) ◽  
pp. 538-545 ◽  
Author(s):  
Nathan Radin

Abstract A punched-card system was developed to simplify the administrative aspects of the clinical chemistry laboratory. In it a three-part requisition and samples are matched and given a laboratory number. The third copy of the original laboratory requsition is a charge card also used as a name file for the day. Prepunched cards, coded for laboratory tests, are used for each test requested. The laboratory number is stamped and punched on each test card. All test cards are then sorted into laboratory test groups, after which the laboratory data and results are recorded on them. Cards are then sorted for laboratory number and rematched with the original laboratory requisitions, which remained in numerical order. Results are then copied directly onto the requisitions. The system is more efficient, less susceptible to error, and simpler than other laboratory record systems.


1983 ◽  
Vol 14 (3) ◽  
pp. 301-316
Author(s):  
ARVIND K. N. NANDEDKAR ◽  
A. BLANK ◽  
JACOB ROOTENBERG

PEDIATRICS ◽  
1982 ◽  
Vol 69 (6) ◽  
pp. 833-833
Author(s):  
Joe Rutledge ◽  
Larry Miller

The Committee on Nutrition, American Academy of Pediatrics has recently reported on the "Use of Intravenous Fat Emulsions in Pediatric Patients" (Pediatrics 68:738, 1981). The committee recommends restriction of the amount of fat emulsion given infants because of a lack of accurate and appropriate means of monitoring serum fatty acid and triglyceride concentrations. Such is not the case for triglycerides. The pediatric clinical chemistry laboratory has the ability to measure serum triglyceride concentrations to support hyperalimentation therapeutic monitoring.


2019 ◽  
Vol 4 (2) ◽  
pp. 31-36
Author(s):  
Pier Angeli Medina ◽  
◽  
Jenny Matibag ◽  
Sarah Jane Datay-Lim ◽  
Elizabeth Arcellana-Nuqui

1976 ◽  
Vol 22 (3) ◽  
pp. 346-349 ◽  
Author(s):  
E J Sampson ◽  
D D Derck ◽  
L M Demers

Abstract We evaluated the Abbott Bichromatic Analyzer-100 (ABA-100) for use in the routine clinical chemistry laboratory by examining 13 different determinations that can be performed on the instrument. Results with the Du Pont "aca" and Technicon continuous-flow systems were compared to the ABA-100 in terms of upper limits of linearity, inter-run coefficient of variation, and results for samples from patients. The upper limits of linearity for the methods on the ABA-100 exceeded all of those for the continuous-flow systems, except for urea nitrogen. Precision of the ABA-100 was as good as or better than that of the aca for all determinations, except for glucose in a normal control serum and creatine kinase and creatinine in an above-normal control serum.


1995 ◽  
Vol 41 (3) ◽  
pp. 343-360 ◽  
Author(s):  
M A Watson ◽  
M G Scott

Abstract In addition to microbial culture, cytology, and immunological studies, physicians rely on the clinical chemistry laboratory for biochemical analysis of patients' cerebrospinal fluid (CSF). However, apart from routine glucose and protein determinations, the clinical value of other CSF analytes is often unclear. Here, we review the literature pertaining to the use of CSF biochemical measurements in managing patients with infectious disease, neoplasia, stroke and trauma, and dementia. Although a small number of studies demonstrate potential usefulness of some markers, we conclude that, without further study, the data are insufficient to support the routine clinical use of most of the analytes examined.


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