RESUMO
In this pilot study the frequency of delta F508 mutation carriers, their geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 newborns were tested for delta F508 mutation and 88 were found to carry this deletion. The mean frequency of delta F508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significantly (p = 0.0369), with the highest incidence (1:36) on the Baltic Sea islands and western coastal region and with the lowest in south eastern parts of Estonia.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Triagem de Portadores Genéticos , Mutação , Triagem Neonatal , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Estônia/epidemiologia , Humanos , Recém-Nascido , Projetos Piloto , Reação em Cadeia da PolimeraseRESUMO
On the basis of dynamic examinations of 52 patients with various forms of cerebrovascular disorders it has been found, that intravascular aggregation of platelets takes place in all forms of cerebral stroke (brain infarction, cerebral hemorrhage, subarachnoidal hemorrhage) and in transitory disturbances of cerebral circulation. The intravascular aggregation of platelets and activation of the blood coagulation system are more marked in cases of cerebral hemorrhage, as compared with other forms of cerebral stroke. The degree of the platelet intravascular aggregation is directly proportional to the stroke gravity, the thromboembolic complications, and the progress of chronic cardiovascular insufficiency. The intravascular aggregation of platelets is considered to be one of the pathogenetic factors of cerebrovascular diseases.
Assuntos
Transtornos Cerebrovasculares/fisiopatologia , Agregação Plaquetária , Doença Aguda , Adulto , Idoso , Hemorragia Cerebral/fisiopatologia , Infarto Cerebral/fisiopatologia , Feminino , Humanos , Ataque Isquêmico Transitório/fisiopatologia , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/fisiopatologia , Contagem de Plaquetas , Hemorragia Subaracnóidea/fisiopatologiaRESUMO
Two techniques for phenotyping the human placental alkaline phosphatase system were developed: high-voltage agarose-gel electrophoresis and thin-layer separator isoelectric focusing on agarose. These methods enabled a more rapid and sensitive phenotyping of all common phenotypes than the traditionally employed starch-gel electrophoresis. An extended polymorphism of placental alkaline phosphatase was revealed by isoelectric focusing. The existence of two suballeles of Pl1 allele and two suballeles of Pl2 allele was postulated.