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| Baldo,Guilherme; Ayala,Ana; Melendez,Matias; Nonnemacher,Karina; Lima,Luciane; Segal,Sandra Leistner; Kieling,Carlos; Vieira,Sandra Gonçalves; Ferreira,Cristina Targa; Silveira,Themis Reverbel da; Giugliani,Roberto; Matte,Ursula. |
| Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (ACRS) technique to investigate the prevalence of the PI*S and PI*Z alleles in a group of Brazilian children (n = 200) with liver disease and established the general frequency of the PI*S allele in our population. We found a significant association of the PI*Z allele and liver disease, but no such relationship was found for the PI*S allele. Our results show that SERPINA1 deficiency due to the PI*Z allele,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-1-antitrypsin deficiency; Liver disease; Pediatric patients; SERPINA1. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005 |
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| Ferreira,Cristina Targa; Leite,Júlio César; Taniguchi,Adriano Nori R.; Vieira,Sandra Maria G.; Pereira-Lima,Jorge; Silveira,Themis Reverbel da. |
| The high incidence of Hepatitis A and B in institutionalized patients with Down Syndrome (DS) is not fully understood. Under poor hygienic conditions, immunological alterations might predispose individuals to these infections. Sixty three DS children between 1 and 12 years old living at home with their families were examined for anti-HAV and compared to age-matched controls (64 healthy children). This cross-sectional study was carried out from May, 1999, to April, 2000, at the Hospital de Clínicas of Porto Alegre, southern Brazil. Groups were compared in terms of age, sex, skin color, and family income (> R$ 500 and < R$ 500/ month) by the chi-square test, with Yates' correction and for the prevalence of anti-HAV (Fisher's exact test). In the DS... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Down syndrome; Hepatitis A; Seroprevalence. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702002000500003 |
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