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Key-note speakers
ASSOCIATION OF DISORDER OF FOLATE METABOLISM AND SULFUR-CONTAINING AMINO ACIDS WITH SOME HEREDITARY DISEASES
Grechanina O.Y., professor, MD PhD, Head of Clinical Genetics department,
Honorable figure of science and technique of Ukraine, Laureate of the state award of Ukraine in the regions of science and technique.
Kharkiv National Medical University, Kharkiv, Ukraine
The most important role of folate metabolism, methyl groups and homocysteine level in providing optimal health status as well as disorder of these metabolic processes in the occurrence of hereditary diseases in man is beyond question. Experience of our Institute is indicative of the influence
of folate cycle deficit on the character of genetic disease manifestation. Interest to the investigation of problem was provoked by the results of our investigation together with prof. R. Matalon (2007) that has established high prevalence of alleles 677T MTHFR (30%) and 66G MTRR (57%) in the Ukrainian population.
The genotypes and allele frequencies of C677T MTHFR and A66G MTRR were calculated. Heterozygous genotype CT was present in 539 patients (43.5%), homozygous genotype TT MTHFR in 104 (8.4%) and CC in 595 (48.1%). The frequency of 677T allele was 0.30. For MTRR polymorphism, the genotype AG512 (41.4%), GG was present in 450 patients (36.3%), AA276 (22.3%). The associations of different variants of compounds with monogenous syndromes, both metabolic and formal genesis, were revealed: MNGIE, Russel-Silver, Ehlers-Danlos, Marfan, Zellweger, Stiller, Gorlin-Holz, Lesch-Nyhan, Prader-Willi, Louis-Bar, Rett, Setre-Chätsen, McCune-Allbright, Cornelia-de Lange, Sturge-Weber, haemophilia A, pulmonary fibrosis, neurofibromatosis, mitochondrial and neuro-
degenerative disorders. A combination of phenotypic manifestation of these syndromes with those of mild HCU was noted, which enabled us to include basic therapy of folate cycle into rehabilitation measures under amino acid level control. Phenotypic models of different variants of compounds, not associated with monogenous pathology, were performed. Association of folate cycle deficit in the families with chromosomal disorders (Down syndrome, Turner syndrome, aneuploidies: regular and mosaic, polymorphism) was established.
STRESS-INDUCES CARDIOMYOPATHY IN CHILDREN
Senatorova A.S., professor, DM, Head of pediatrics №1 and neonatology department
Kharkiv National Medical University, Kharkiv, Ukraine
Stress-induces cardiomyopathy so called Takotsubo cardiomyopathy is transient myocardial pathology, which mimics acute coronary syndrome, heart attack of myocardium with the ST-segment elevation on electrocardiogram without the coronary arteries damage. There are only few descriptions of current syndrome in domestic literature. The clinical observations in childhood are not present. We have investigated 3 teenagers with Takotsubo cardiomyopathy, with complaints that mimic of acute coronary syndrome (acute chest pain, palpitation, dyspnea, suddenly arising up after acute emotional or physiological stressors). ST-segment elevations and T-wave inversions on electrocardiograms were registered. Dysfunction and dyskinesia of left ventricle apex and interventricular septum was determined on echocardiography. There were no occlusions and anomalies of vessels exposed on aortocoronarography. We have provided symptomatic medical treatment and during 3-4 weeks the function of heart was normalized.
CARDIOMETABOLIC RISK: HOW TO AVOID CARDIOVASCULAR MORBIDITY AND MORTALITY?
Kovalyova O. N., MD, PhD, F.E.S.C.
Head of the Propedeutics to Internal Diseases Department N1
Kharkiv National Medical University, Kharkiv, Ukraine
Atherosclerosis (AS) eventually leads to cardiovascular disease (CVD), resulting in a variety of clinical manifestations including; coronary heart disease (CHD) (angina pectoris, MI, and sudden cardiac death), cerebrovascular disease (transient ischaemic attacks and stroke) and peripheral vascular disease (PVD) (intermittent claudication and gangrene).
Atherosclerosis is a silent killer with plaques forming early in life, developing progressively over time. Clinical manifestations of AS commonly involve the brain, heart, and legs...