Yaroslav Hrechanin, A Zabelina and D Oleynik
Kharkiv National Medical University, Ukraine
Posters & Accepted Abstracts: Gen Med (Los Angeles)
Metabolic diseases can be complicated by decompensation, which requires an adequate, rapid and careful impact. In a short period, the doctor needs to clarify the exact diagnosis, test the levels of ammonia, pH, electrolytes, glucose and ketones in the urine, exclude the defects of the carnitine cycle, to determine aciduria. Aciduria, ketonuria in the neonatal period are diagnostically significant, as well as glypocemia and increasing the level of creatine kinase. For an adequate assessment of the results of the studies of accumulation of toxic metabolites, it is extremely important to obtain biological samples before any medication is started. The use of emergency care services in the regions for obtaining and transporting biological specimens to metabolic laboratories of KISMGC-CR (O) D have been proposed. Training has been conducted for workers of emergency care teams; literature on metabolic diseases has been prepared and published. All employees are provided with methodological recommendations on the rules for the collection and transport of biological samples. If there is a suspicion of metabolic diseases, the emergency care team takes biological samples and delivers at any time to the laboratory of the genetic center, with recommendations on the nature of its storage. The first observations show the benefits of the implemented diagnosis accuracy program. Timely diagnostics and therapeutic measures taken after taking samples, allow improving energy supply to the patient, make timely detoxification, which will prevent the early death of children. In the future, the samples will be used for selective screening of a large number of metabolic diseases.
Yaroslav Hrechanin is a student of Kharkiv National Medical University; and he works as a Nurse Man at Center for Emergency Medical Care and Disaster Medicine. He takes an active part in medical competitions.
E-mail: mgc@ukr.net
