RESUMO
There are presented preliminary results of the analysis of the materials of the register of children and adolescents suffering from Familial Mediterranean Fever in Georgia. The register was created by the "snow ball" method. For today it contains data on 138 patients, 56 (40.6%) males, 82 (59.4%) females, 86 (62.3%) less than 10 year old, 52 (37.7%) 10-18 year old. Almost in all patients the Armenian roots were revealed, both from maternal and paternal sides. Among the MEFV gene mutations M694V (mainly) and also V726A and M680I were the most common ones.
Assuntos
Proteínas do Citoesqueleto/genética , Etnicidade/genética , Febre Familiar do Mediterrâneo/genética , Adolescente , Armênia , Criança , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/patologia , Feminino , Genótipo , República da Geórgia , Heterozigoto , Humanos , Masculino , Mutação , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , PirinaRESUMO
Different methods being used in the rare diseases clinical trials are examined. There is shown the purposefulness of using fuzzy approaches for such studies. Some advantages of Fuzzy logic methods in comparison with Baysian approach are substantiated.
