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1.
Genet Couns ; 25(1): 19-27, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24783651

RESUMO

We report a fetus with del(6)(q21q23) who had tetralogy of Fallot and ectrodactyly of the right hand. Analysis of the literature showed that both these defects were reported in several patients with similar deletions. The minimal segment responsible for ectrodactyly may be limited to 7.35 Mb (106.650.000-114.600.000). However 1) significant number of patients with this deletion but without ectrodactyly or other defects of extremities, and 2) wide range of unusual birth defects in some persons with deletions of the critical segment allow to propose involvement of regulatory element(s) necessary for the occurrence of ectrodactyly in patients with del 6q21.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 6/genética , Retardo do Crescimento Fetal/genética , Deformidades Congênitas dos Membros/genética , Tetralogia de Fallot/genética , Aborto Induzido , Adulto , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Feto , Testes Genéticos , Idade Gestacional , Humanos , Deformidades Congênitas dos Membros/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Tetralogia de Fallot/diagnóstico por imagem , Ultrassonografia
2.
Artigo em Russo | MEDLINE | ID: mdl-12043150

RESUMO

Immunological activity and safety of group B meningococcal vaccine prepared from a natural complex of specific polysaccharide and outer membrane proteins were under study. The immunological safety of the vaccine was evaluated by the absence of antibodies to denaturated and native DNA (d-DNA and n-DNA). As shown with the use of the enzyme immunoassay (EIA), the administration of the vaccine did not induce antibody formation to d-DNA and n-DNA during the observation period. The titer of bactericidal antibodies in the immune bacteriolysis assay (IBA) to the vaccine strain B:2b:P1.2 after immunization increased four-fold and greater in 80% of the vaccinated persons. The significant increase of bactericidal antibodies to heterologous strains B:2a:P1.2 and B:15:P1.7 was registered in 20-30% of the vaccinees, respectively. A month after the repeated vaccination an increase in specific IgG antibodies to the complex antigen was found to occur according to EIA results. The use of RIB made it possible to evaluate the preventive activity of group B meningococcal vaccine as a whole and to suppose that the vaccine induced mainly type-specific response.


Assuntos
Proteínas da Membrana Bacteriana Externa/imunologia , Infecções Meningocócicas/imunologia , Vacinas Meningocócicas/imunologia , Polissacarídeos Bacterianos/imunologia , Adulto , Hidróxido de Alumínio/administração & dosagem , Cápsulas Bacterianas , Humanos , Hidrogéis , Infecções Meningocócicas/prevenção & controle , Vacinas Meningocócicas/efeitos adversos , Neisseria meningitidis/classificação , Neisseria meningitidis/imunologia , Sorotipagem , Vacinação , Vacinas Conjugadas/química , Vacinas Conjugadas/imunologia
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