- Tytuł:
- Development of a Point-of-Care system for early diagnostics of genetic diseases
- Autorzy:
-
Kwapiszewski, R.
Chudy, M.
Dybko, A.
Brzózka, Z. - Powiązania:
- https://bibliotekanauki.pl/articles/115790.pdf
- Data publikacji:
- 2012
- Wydawca:
- Fundacja na Rzecz Młodych Naukowców
- Tematy:
-
lysosomal storage disorders
Fabry disease
Gaucher disease
early diagnostics
intracellular enzyme activity
Point-of-Care system
lab-on-a-chip system - Opis:
- Lysosomal storage disorders (LSDs) represent a group of more than 45 genetically inherited diseases caused by the absence or deficiency of one or more specific lysosomal enzymes. Nowadays, there is a lack of reports on fast, reliable methods for the diagnostics of LSDs. Currently applied diagnostic approaches generate many false-negative and false-positive results, which results in classification of patients to inappropriate therapeutic groups. Moreover, these methods are time-consuming (even 20 hours), and are carried out only in a few laboratories in the world. The goal of this work was to develop a method and a tool, a Point-of-Care system, for diagnostics of LSDs. The polymeric microdevice consists of a cell lysis module, a mixing microchannel and an optical detection module. The system enables to determine the activity of α-galactosidase (deficient in Fabry disease), and to reduce the time of analysis to 10 min. Due to its easy fabrication steps and low price, it seems to be a prospective tool for a point-of-care approach.
- Źródło:
-
Challenges of Modern Technology; 2012, 3, 2; 6-8
2082-2863
2353-4419 - Pojawia się w:
- Challenges of Modern Technology
- Dostawca treści:
- Biblioteka Nauki
Artykuł