Browsing by Author "Bugaeva, Olena"

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A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son
(2014) Bugaeva, Olena; Grechanina, Elena; Grechanina, Juliya
Connective tissue dysplasias are characterized by the clinical polymorphism and genetic heterogeneity. Each new patient with Ehlers - Danlos syndrome, according to our observations is potentially a new variant of the syndrome.
Medical genetics. Contents module 4. Monogenic diseases. Cystic fibrosis (clinical pictures, diagnosis, treatment)
(2013) Grechanina, Elena; Grechanina, Juliya; Molodan, L.; Zdubskaya, E.; Bugaeva, Olena
Monogenic diseases or genetic diseases (such name is spread abroad) - a group of diseases (with diverse clinical manifestations), which are caused by mutations at the gene level and in most cases have Mendelian inheritance pattern. At the basis of this group of hereditary disease are single gene mutations or point mutations, which include defects of exons (deletions, insertions, substitutions, inversions), defects of introns and flanking parts (change in polyadenylation signal), which leads to changes in the composition and order of nucleotides in the DNA molecule, disorder of genetic information translation from DNA to RNA, from RNA to ribosomes and to changes of the sequence of amino acids in a polypeptide. The following types of human gene mutations that cause hereditary diseases have been described: - Missens; - Nonsense; - Frameshift; - Deletions; - Inserts (inertia); - Disorder of splicing; - Increase in number (expansion) of trinucleotide repetitions. Mutations that cause genetic diseases, may involve structural, transport and embryonic proteins, enzymes. Levels of protein synthesis regulation: - Pretranscriptional. - Transcriptional. - Translational. Cystic Fibrosis is a frequent monogenic disease caused by CFTR (cystic fibrosis transmembrane regulator) gene mutation, characterized by excretory glands affection of vital organs and systems; usually has severe course and prognosis. Cystic Fibrosis (CF) frequency ranges depending on population. CF frequency is from 1:2000 to 1:4000 newborns in countries of Europe and Northern America. Genetics CF is inherited in an autosomal recessive pattern. Since both parents are heterozygotes for abnormal CFTR gene and consequently they are only its carriers, the incidence rate of a child born with CF is 25%. In each subsequent pregnancy, this rate remains unchangeable-«a risk has no memory». CFTR gene was indentified in 1989 year. It contains 27 exons, covers 250000 pairs of nucleotides and is located in the middle of 7 chromosome long arm. More than 1000 gene mutations have been identified, responsible for symptoms development of CF. The most prevalent is AF508 mutation (50-53%).
Medical genetics. Contents module 4. Monogenic diseases. Diagnosis of disorders of sulphur-containing amino acids
(2013) Grechanina, Elena; Grechanina, Juliya; Molodan, L.; Zdubskaya, E.; Bugaeva, Olena
Genomic human health is a foundation of psychic, somatic and reproductive health. This fact, which is proved by many world geneticists, was accepted by the society only after the approval of the role of inherent disorders in developing rare as well as common human diseases by WHO (World Health Organization) and EU approval in 1990. Health is programmed during the maturity of germ cells and at early stages of individual development and depends on the character of received from parents genetic information, as well as on environmental conditions, in which it is realized, and also on a great number of genes of (not parenteral) unknown origin. It is established that gene activity during human life depends on interaction with other genes, on environment and on genetic mechanisms of gene activity regulation. Knowledge gained in the process of genome composition interpretation conveniences that molecular medicine will not give an expected result without studying clinical features of human diseases. Causative-consecutive relations in the pathogenesis of the inherent pathology can be established only by common efforts of clinicist, geneticist, biochemists, molecular geneticist and pharmogeneticist. Molecular diagnosis is mostly considered in studying genome variety, this diagnosis is the one of the most important perspective area of genetics allowing to determine causes of the development of inherent diseases and mechanisms of their development with the use of the modern methods: sequencing, cloning, RFLP (restriction fragment length polymorphism)- analysis, chip-technologies. These studies are directed at solving fundamental scientific problems, which are connected with human origin, and at revealing gene differences, which are connected with human sensitivity and resistance to various diseases and environmental influence. New mutations and polymorphic sites can be found in studying the changes of nuclear DNA, as well as mitochondrial DNA (mtDNA). Polymorphic sites are gene regions, where mutations arose in the process of evolution and had an adaptive character. They can be transform from neutral mutation to conditionally pathogenic and lead to disease appearance that occurs in the case of bioenergy metabolism disorder (mitochondriopathy). Studying polymorphisms of genes, which are predisposed to diseases of cardiovascular and central nervous systems acquires the great practical meaning in the modern condition of molecular medicine development. Sulfur containing amino acids (methionine, homocysteine, homocystine, cystationine, cysteine, cystine and taurine) become the centre of attention of geneticians. From our point of view, they influence on the realization of the function of many genes, which carry various information, because methionine is a donor of methyl groups, which take part in the epigenetic regulation of gene expression. That’s why there are new opportunities of adequate assessment of the role of sulfur containing amino acid (SCAA) metabolism in the appearance of various clinical signs. In the past, folate metabolism disorders were considered as an obvious cause of multifactorial defects of CNS (neural tube closure defects), nowadays we can speak about the systemic influence of such metabolism disorder. These methodic recommendations are devoted to the problems of an early (including prenatal) diagnosis of disorders of SCAA metabolism, and also to questions about the treatment and rehabilitation of patients with different disorders of SCAA metabolism, designed for geneticians, pediatricians, surgeons, obstetrician-gynecologists, interns. Biochemistry of sulfur-containing amino acids Methionine is an essential sulfur containing amino acid which is included in the composition of proteins. The full characteristics of methionine is presented in Human Metabolone Database (HMD). That fact, that methionine is an evolutionally selected antioxidant, explains a wide range of pathology, which develops in metabolism disorder of this sulfur containing amino acid. Methionine is essential for human development in accordance with his program. Metionine isn’t produced in the body, it is obtained from food and serves as a substrate for protein synthesis. Methionine has unique functions: - Takes part in transamination reactions; - Serves as a donor of methyl groups in synthesis of biologically active groups; - Takes part in synthesis of nucleic acids; Methionine is an acceptor of methyl for 5-methyltetrahydropholate-homocysteine methyl transferase (methionine transferase) in a single reaction, and also is a methyl acceptor in catabolism (Human Metabolome Database, 2005). Methionine is a precursor of cysteine, takes part in biosynthesis of the last one. Methionine sulfur converts in cysteine sulfur in the process of catabolism. Carbon skeleton of cysteine origins from serine. Figure 1 reflects conceptual biochemistry in methionine.
Medical genetics. Contents module 4. Monogenic diseases. Disorders of amino acid metabolism
(Kharkiv National Medical University, 2013) Grechanina, Elena; Grechanina, Juliya; Molodan, L.V.; Zdubskaya, E.P.; Bugaeva, Olena
General laws of pathogenesis. Schematically, the principal chains of pathogenesis of monogenic diseases can be represented as follows: mutant alleles → pathological primary product (qualitatively or quantitatively changed), a chain of biochemical subsequent processes → cell → bodies→ body. This is the basic pattern of monogenic diseases in all their diversity. Phenylketonuria (PKU) is the most common metabolic defect of phenylalanine (amino-acid). In a normal condition, phenylalanine (PhA) is decomposed via tyrosine pathway. Phenylalanine hydroxylase or tetrahydrobiopterin (its cofactor) deficient leads to PhA accumulation in biological liquids of the body. There are several clinically and biochemically heterogenic forms of PKU. Classical phenylketonuria is a disease caused by a mutation in the phenylalanine hydroxylase gene (PAH) localized on 12q24. 100 mutations are localized in PAH, including substitutions, insertions, deletions. Inheritance type is autosomal reccesive (AR). Diseases are developed as a result of the interaction of great amount of PhA and the products of its metabolism (phenyl-pyruvic, phenylacetic, phenyl-lactic acids, phenylethylamine and other) on the body, and these products accumulate in the body as a result of a full of partial absence of phenylalanine hydroxylase enzyme. PhA and its metabolites inhibit biochemical processes necessary for normal brain development: protein metabolism, glycol - and lipoprotein metabolism, AA transport, hormone metabolism, causing disorders of nervous system myelination in children, liver parenchyma lesions and other metabolic disorders.
Medical genetics. Сontents module 6. Мitochondrial diseases
(2013) Grechanina, Elena; Grechanina, Juliya; Molodan, L.; Zdubskaya, E.; Bugaeva, Olena; Bezrodna, A.; Turova, L.
The largest number of mitochondrias contains enerhotrophy organs - brain, heart, liver, skeletal muscle, kidney, endocrine and respiratory systems, so first of all, suffer these organs and systems together or alternately. Mitochondrial disease is genetically heterogeneous and clinically polymorphic. Early onset results in a heavier flow, given that the early manifestation of mitochondrial disease coincides with the abnormal accumulation of mutant DNA and proceeds progressively quickly. Depending on which organ affected, patients may present complaints of violations of motor control, muscle weakness and muscle pain, as localized and diffuse, gastrointestinal disturbances (vomiting, diarrhea with signs of exocrine pancreatic insufficiency) and swallowing difficulties, voice hoarseness, linked with weakness vocal ligaments, growth retardation, heart disease in a large spread of mitral valve prolapse to the different versions of cardiomyopathies, the formation of diabetes, liver disease, which contain hepatomegaly or different versions of idiopathic autoimmune hepatitis In these patients, may cause seizures or epi-equivalents, followed by the formation of epilepsy, problems with hearing (sensorineural deafness or hearing), visual (often changes associated with the optic nerve, including retinitis pigmentosa), respiratory disorders (worth Memory 'mind that the primary manifestation of distress - respiratory syndrome, which can lead to sudden death of a child or adult is repeated episodes of apnea in children, snoring and periodic cyanosis nasolabial triangle under emotional stress), lactic acidosis, which untreated can lead to acidotic coma common developmental disorders and susceptibility to frequent respiratory diseases (different types of immune disorders). The most common symptoms include the following mitohondriopaty syptomo - complex: • myopathy, polymyositis; • ophthalmopathy; • encephalopathy; • hepatomegaly; • cardiomegaly; • epilepsy; • diabetes. Most patients suffering from mitochondrial diseases impose the following complaints: • muscle weakness, fatigue, syndrome "lifeless baby" syndrome, chronic fatigue, exercise intolerance; • headaches, episodes of loss of consciousness and convulsive seizures, loss of previously acquired skills, dementia; • acidotic vomiting, coma; • skeleton disorders (dwarfism); • blurred vision, blindness, ophthalmoplegia; • hearing impairment; • cardialgia, myalgia. An examination of these patients exhibit the following changes: • elevated levels of lactate dehydrogenase; • elevated levels of alkaline phosphatase; • elevated kreatinfosfokinazy; • hypoglycemia; • hematuria; • increasing ESR; • rhabdomyolysis (identifying the phenomenon of "ragged" red fibers RRF by light microscopy of muscle biopsies); • lactic acidosis.
Miscarriage : Guidelines
(2019) Grechanina, Elena; Grechanina, Juliya; Molodan, Ludmila; Zdybskaya, Olena; Bugaeva, Olena; Efremova, Olesya; Oliinyk, Daria
Miscarriage – spontaneous abortion in the period from conception to 37 weeks, counting from the first day of the last menstruation. Abortion in the period from conception to 22 weeks is called spontaneous abortion (miscarriage). Termination of pregnancy from 28 weeks to 37 weeks is called preterm birth. The frequency of spontaneous miscarriages is from 15–20 % of all desired pregnancies. It is believed that a large number of very early and subclinical leaking miscarriages are not included in the statistics. Many researchers believe that spontaneous miscarriage of the first trimester is a tool of natural selection; thus, in the study of abortion, 60–80 % of embryos with chromosomal abnormalities are found.
Monogenic diseases. Inherent diseases of CNS
(2013) Grechanina, Elena; Grechanina, Juliya; Molodan, L.V.; Zdubskaya, E.P.; Bugaeva, Olena
Classification of monogenic pathology. There are several classifications of monogenic diseases. They are based on the following principles: genetic, clinical and pathogenetic. Depending on which system is most affected, hereditary diseases of skin, eyes, nervous system, endocrine, musculoskeletal, neuromuscular system, blood, cardiovascular system, gastrointestinal tract, nephrourinary system and others are emphasised. There are special terms for some groups of diseases: neurogenetics, oncogenetics, ophtalmogenetics, dermatogenetics and others. Conditionality of such classification generates no doubt because in some patients the same diseases manifest in different ways. For example, cystic fibrosis can occur mostly involving the gastrointestinal tract or lungs
Porphyria : Guidelines for the training of interns, 5th year students
(2019) Grechanina, Elena; Grechanina, Juliya; Molodan, Ludmila; Zdybskaya, Olena; Bugaeva, Olena; Efremova, Olesya; Oliinyk, Daria
Porphyria is a group of hereditary diseases that are based on a violation of heme biosynthesis, which leads to excessive accumulation of porphyrins and their precursors in the body, namely, porphobilinogen (PBG) and δ-amino-levulinic acid (ALA). Excess of these substances has a toxic effect on the body and causes characteristic clinical symptoms. The reason for this violation is the 8 utation of the gene responsible for the activity of one of the enzymes involved in multistage heme synthesis.
Practice on medical genetics (test assignments for students of medical faculties): methodical recommendations / methodology
(2017-04-18) Grechanina, Juliya; Molodan, L.; Zdybskaya, A.; Bugaeva, Olena; Efremova, Olesya; Eliseev, V.
Shereshevsky-Turner Syndrome : Guidelines for the training of interns, 5th year students
(2019) Grechanina, Elena; Grechanina, Juliya; Molodan, Ludmila; Zdybskaya, Olena; Bugaeva, Olena; Efremova, Olesya; Oliinyk, Daria
Shereshevsky-Turner Syndrome (SST) is caused by full or partial X-mono-somy, presented in all or part of the cells of the body. The relationship of the disease with a violation of the X chromosome was established by Ford in 1959. This chromosomal disease occurs with a frequency of 1 : 2 000 – 1 : 2 500 baby girls. Chromosomal abnormalities in this syndrome manifest as the absence of one of two chromosomes X: deletion of part of one chromosome X or translocation within the same chromosome X, various mosaic variants are also possible when the chromosome set is partially preserved. Only 1 % of embryos with karyotype 45, XO reach the fetal stage, others do not reach 28 weeks of gestation, about 10% of spontaneous abortions are associated with X mono-somy.
Successful rehabilitation of patient disabled by the autistic spectrum disorder and the modified epigenetic sta
(Georgian medical news, 2019-05-04) Grechanina, Juliya; Bugaeva, Olena; Lisniak, Svetlana; Staruseva, V.; Shmulich, O.
Дисплазия соединительной ткани – актуальная проблема современной медицины (Обзор литературы)
(2009) Бугаева, Елена Валериевна; Бугайова, Олена Валеріївна; Bugaeva, Olena; Васильева, Оксана Васильевна; Васильєва, Оксана Василівна; Vasileva, Oksana Vasilevna
Уникальность структуры и функции соединительной ткани (СТ) создает условия для возникновения большого количества аномалий и заболеваний, обусловленных хромосомными и генными дефектами, которые имеют определенный тип наследования или возникают вследствие внешних мутагенных влияний в фетальный период.