Abstract:
BACKGROUND:The use of dried blood spots (DBS) for the assay of lysosomal enzymes has facilitated the implementation of pilot studies for newborn screening for lysosomal storage disorders in various developed countries. The aim of the study was to determine the influence of ambient temperature during DBS preparation and storage on lysosomal enzyme activity in a developing, tropical country. METHODS:Blood samples from 12 healthy subjects collected on a S&S 903 filter paper were dried and stored at different temperatures for different periods of time. Activities of five lysosomal enzymes (acid α-glucosidase, acid α-galactosidase, acid β-glucocerebrosidase, acid sphingomyelinase, and galactocerebrosidase) were determined by tandem mass spectrometric and fluorimetric (acid α-glucosidase and acid β-glucocerebrosidase only) assays. RESULTS:The mean activities of all five enzymes decreased significantly when DBS was dried at temperatures above 24°C (P<.0001). DBS stored at 4°C, 24°C, 30°C, 37°C, and 45°C for 10 days and more, also showed significant reduction in activities of all five enzymes (P<.0001). CONCLUSION:The results highlight the importance of maintaining the correct ambient temperature during DBS preparation and storage to avoid false positive results when screening for lysosomal storage disorders.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Supriya M,De T,Christopher Rdoi
10.1002/jcla.22220subject
Has Abstractpub_date
2018-01-01 00:00:00issue
1eissn
0887-8013issn
1098-2825journal_volume
32pub_type
杂志文章abstract::Several retrospective studies have shown that a high level of microsatellite instability (MSI-H) is an important prognostic factor of a more favorable outcome in stage II and III colorectal cancer (CRC) patients. In this study, three commonly used polymerase chain reaction (PCR)-based MSI analysis techniques were comp...
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