Phenotypic analysis in the neonatal period | Dmytro Tokariev |
Summary :
A large number of genetically determined diseases have phenotypic manifestations in the form a large number of small anomalies of development, resistant, convulsive syndrome, psychomotor developmental delay syndrome, which can be used in the diagnosis of these diseases, starting from neonatal period. In order to carefully analyze the phenotype was used a specially designed scale - the scale of phenotype analysis (SAF) The use of this scale for additional examination of a newborn made it possible to suspect, and subsequently verify genetically determined diseases in 20% of the examined children. Comprehensive phenotype research can be used to optimize the diagnosis of genetically determined diseases. Careful study of the phenotype allows to diagnose genetically determined conditions, starting from the newborn period. The use of a phenotype assessment scale is available a fairly simple, inexpensive method of diagnosis that does not require additional equipment and special training.
About Author :
Dmytro Tokariev received a medical degree at the age of 23 from the Dnepropetrovsk State Medical Academy, Ukraine. He was a neonatologist at the Regional Neonatal Center, Dnipro, Ukraine, medical director of the research company Arensia Exploratory Medicine Ukraine., Kiev, Ukraine, pediatrician in Amel Dental Clinic, Dnipro, Ukraine. Now he is a head of Pediatric Department Children’s and Maternal Hospital named after Prof. M.F. Rudnev, Dnipro, Ukraine. He has publications devoted to the problems of neonatology, pediatrics, clinical genetics, in particular to the problems of CDG. He is the co-author (another author is Alexandr Kulikov) of the medical diagnostic program Neo Genetics (Interactive database including clinical information on more than 2,500 genetic syndromes with an innovative search engine using about 8,000 symptoms
