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Development of a Point-of-Care system for early diagnostics of genetic diseases

Kwapiszewski R., Chudy M., Dybko A., Brzózka Z.

Challenges of Modern Technology

2012

Vol. 3, no. 2

6--8

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.

Digitalized drawing test (DDT) – the tool for an early subclinical motor symptoms diagnosis

Gorzelańczyk E. J., Włodarczyk K., Laskowska E., Kunc M., Jelonek J.

Bio-Algorithms and Med-Systems

2008

Vol. 4, no. 8

93--99

Motor functioning is linked with cortico-subcortical circuits and can be the biological marker of some disorders. Motor and tension disorders of specific muscles can be monitored during drawing test completion. The advantage of computer aided tests is that they allow to perform mathematical and statistical analysis. By analyzing primary movements parameters and spectrograms of hand tremor during a drawing test, the researcher obtains a diagnostic data set. A digitalized drawing test consists of a pattern (designed by Edward Jacek Gorzelańczyk) on a piece of paper with special figures. Each shape is of diagnostic value for certain motor abilities (precise movement, muscle tone, kinetics of whole hand/arm). A PC digital tablet with an electro-magnetic ballpen allows to register digital data during the test. The application Med Tablet, co-designed by the author of this article, is used to store and analyze the obtained data. Alcohol or other psychoactive substance addiction gives specific tremors that can be observed in a momentary velocity profile. The profile can also contribute to Parkinson’s disease or intention tremor distinction. What is more, motor disorders can be diagnosed in the preclinic phase of the disease. This digitalized drawing test was also used to evaluate the level of thalamotomy or pallidotomy. A tremor affecting any area of the body is transmitted to hand during the drawing task. Digitalized drawing test can become a subclinical motor symptoms diagnostic tool in PD, addiction and motor dysfunctions in other diseases.

Diagnostyka wibroakustyczna i metoda oceny uszkodzeń wirujących elementów maszyn turbinowych

Bouraou N., Marchuk P., Tyapchenko A.

Vibrations in Physical Systems

2000

Vol. 19

66--67