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1.
Balkan J Med Genet ; 26(1): 75-82, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37576793

RESUMO

Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.

2.
Artigo em Romano | MEDLINE | ID: mdl-79206

RESUMO

Alpha protein and IgG were determined by radial immunodiffusion in Swiss mice, in the amniotic fluid, milk and serum of the mice at different ages (fetus, neonates, at the age of 5, 10, 15, 20, 25, 30, 35 and 40 days and adults). The highest alpha-protein concentrations were found in the fetal serum (0.20 mg/ml) ; after birth serum levels rapidly fell and at 20 days could no longer be detected ; it was present in the amniotic fluid and milk collected within the first 24 hours after birth. In contrast, IgG was found in small concentrations in the fetal serum (0.60 mg/ml) but increased with age after birth. This immunoglobulin was present in the amniotic fluid and mothers' milk for 15 days. The significance of the results is discussed.


Assuntos
Líquidos Corporais/imunologia , Imunidade , Imunoglobulina G/análise , alfa-Fetoproteínas/análise , Fatores Etários , Líquido Amniótico/imunologia , Animais , Animais Recém-Nascidos , Feminino , Sangue Fetal/análise , Imunoglobulina G/sangue , Camundongos , Leite/análise , Gravidez
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