RESUMO
The activity of free-radical oxidation and the level of genome instability in children with periventricular leucomalacia that resulted in cerebral palsy have been studied. Genome destabilization, i.e., the elevation of erythrocyte micronuclei in the peripheral blood, has been reported. There was a correlation of a number of cells with cytogenetic rearrangements with the activity of antioxidant defense enzymes and the malonaldehyde level. It has been shown that genome instability occurs during the activation of endogenous mutagenesis and reduction of antiradical and antimutagenic defense. Having, along with the neurotrophic effect, antiradical and antimutagenic effects, cortexin is capable to inhibit the pronounced processes of free-radical oxidation and endogenous mutagenesis in patients with periventricular leucomalacia that resulted in spastic dyplegia exerting.
Assuntos
Paralisia Cerebral/genética , Paralisia Cerebral/patologia , Eritrócitos/patologia , Instabilidade Genômica , Leucomalácia Periventricular/genética , Leucomalácia Periventricular/patologia , Peptídeos/administração & dosagem , Paralisia Cerebral/metabolismo , Pré-Escolar , Feminino , Radicais Livres/antagonistas & inibidores , Radicais Livres/metabolismo , Humanos , Lactente , Recém-Nascido , Peptídeos e Proteínas de Sinalização Intercelular , Leucomalácia Periventricular/metabolismo , Masculino , Malondialdeído/metabolismo , Mutagênese/efeitos dos fármacosRESUMO
The genetic system in children with cerebral palsy was studied by the method of registration of chromosome aberrations and micronuclei in peripheral blood lymphocytes and erythrocytes. A high level of chromosome aberrations and micronuclei in the peripheral blood cells was revealed. A significant reduction of the integral antioxidant capacity of the blood and plasma was detected by coulombometric titration with electrogenerated bromine in patients with all forms of cerebral palsy. Aneugenic and antianeugenic effects of glutamate were studied in experiments on mice. Biphasic effect of glutamate was revealed: it exhibited aneugenic effect in high doses and antianeugenic in low doses. Impairment of the genome stability in children with cerebral palsy is believed to be caused by increased generation of endomutagens under conditions of disease and reduction of the genome antimutagenic defense system.
Assuntos
Paralisia Cerebral/genética , Eritrócitos/fisiologia , Linfócitos/fisiologia , Adolescente , Aneugênicos/metabolismo , Animais , Antioxidantes , Paralisia Cerebral/sangue , Criança , Aberrações Cromossômicas , Ácido Glutâmico/metabolismo , Humanos , Camundongos , Micronúcleos com Defeito CromossômicoRESUMO
A neurovisual and immunogenetic study of patients with different forms of cerebral palsy was conducted. Morphological peculiarities of each form were described. A frequent combination of pathology of cerebrospinal fluid spaces and periventricular area with disruption of neuronal migration and development of brain mass and volume was found. HLA-typing revealed a significant association of the disease with antigen B13. An association of cerebral palsy with particular genetically determined vulnerability of fetal brain to lesions disrupting genetic program for neuroontogenesis is suggested.
Assuntos
Paralisia Cerebral/diagnóstico , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Paralisia Cerebral/líquido cefalorraquidiano , Paralisia Cerebral/diagnóstico por imagem , Paralisia Cerebral/genética , Paralisia Cerebral/imunologia , Paralisia Cerebral/patologia , Criança , Pré-Escolar , Feminino , Frequência do Gene , Antígenos HLA , Teste de Histocompatibilidade , Humanos , Imunogenética , Lactente , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Tomografia Computadorizada por Raios XRESUMO
The authors specified the prevalence of syncopal states in the representative sample of 2309 schoolchildren from the city of Kazan, as well as hereditary factors in the genesis of neurogenic syncopes basing on the clinico-genealogical analysis of 115 families. 91.4% of the syncopal conditions were considered to be neurogenic syncopes (populational frequency is 6.41%) and family disease close by relevant characteristics to multifactorial illnesses with rather high (73.5%) proportion of the genetic factors. When the parents remarried by type patient-to-patient, the segregation rate (0.43) of neurogenic syncopes is close to the expected (0.50) though this does not rule out a dominant model of monogenic affection.
