Search academic texts

Information × Registration Number 0214U003344, 0111U000666 , R & D reports Title Developing of pharmacogenetic approaches to prevention and treatment of perinatal pathology in newborn babies popup.stage_title Head Gorovenko N.G., Registration Date 29-01-2014 Organization Institute of genetic and regenerative medicine Acad.Med.Sci. of Ukraine popup.description2 Report of scientific research: 74р., 31 fig., 19 table., 5 apps, 77 sources. Object of research - genetic, biochemical and cytogenetic markers associated with the development of severe perinatal pathology, critical states in newborn babies and the need for medical intervention. The purpose of the study - identify informative molecular genetic, biochemical and cytogenetic markers for assessing the risk of perinatal critical conditions in newborn babies and prediction of the need for medical intervention. Methods - molecular genetic techniques (polymerase chain reaction, restriction fragment length polymorphism), methods of biochemical analysis (hemilyuministsentnyy, spectrophotometric analysis, enzymatic determination), cytogenetic methods (karyotyping, chromosomes painted by G and C- methods), statistical methods (Statistica 6.0, SPSS 17.0, MDR_2.0). Analysis of 1900 metaphase plates of 95 children. The increasing frequency of chromosomal polymorphism in the form of increased heterochromatin regions identified in 21.7 % of cases in children with perinatal pathology and not were found in clinically-healthy children. The method of tandem mass spectrometry (TMS) analyzes 40 indicators (amino acids, free carnitine, acylcarnitines ) in 160 newborn babies with critical conditions. In 7 % of children identified hereditary metabolic disorders. In 345 newborn babies analyzed polymorphism of genes ACE (I/D), AT2R1 (A1166C), TNF-a (G308A), MTHFR (C677T). Determined the association of polymorphic variants of genes ACE, AT2R1, TNF-a, MTHFR with the development of perinatal asphyxia, respiratory distress syndrome, concomitant pulmonary and neurological disorders, organ failure. Investigated genes were associated with the need for medical intervention (except gene AT2R1). It was determinated the influence of the investigated polymorphic variants in need of medical attention in newborn babies. In the presence of DD genotype of the gene ACE genotype 308AA gene TNF-a and genotypes 677CT, 677TT gene MTHFR for predicting the deterioration of the cardiovascular and respiratory systems of the need for a prolonged resuscitation, mechanical ventilation. Statistical models were constructed for risk assessment of critical conditions and needs of newborn babies in respiratory, resuscitation support support. Newborn babies with genotype -786CC by eNOS gene was significantly lower doses needed to use dopamine to achieve a therapeutic effect compared with newborn babies with -786CT and 786TT genotypes. GENES, POLYMORPHIC VARIANTS , THE RISK OF DEVELOPING, PERINATAL PATHOLOGY, CRITICALLY ILL, MEDICAL INTERVENTION, NEWBORN BABIES Product Description popup.authors Кир'яченко Світлана Петрівна Малярчук Ірина Володимирівна Ольхович Наталія Вікторівна Пічкур Наталія Олександрівна Россоха Зоя Івнівна Трофімова Наталя Сергіївна popup.nrat_date 2020-04-02 Close