RESUMO
Authors analysed 359 cases with Down's syndrome and congenital heart defects registered between 1974-1997 in Hungary. The total death rate was 19.9% (70 cases). Mortality in the operated group (85 cases) was 10.5% (9 patients), in the non-operated group (274 cases) 22.2% (61 patients). The death rate was lower in the group with early primary reconstruction (2.3%) than in the group with palliation + reconstruction (15.3%), or in the group with only palliative procedure (20%). These results indicate that the life expectancy of infants and children with Down's syndrome and congenital heart disease after early primary reconstructive procedure is the same as in Down syndrome patients without cardiac defects. The prognosis depends on the patient's social circumstances. The results after correct surgical procedure in patients with the same cardiac defect are similar to that of the patients with or without Down's syndrome.
Assuntos
Síndrome de Down/complicações , Síndrome de Down/mortalidade , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/mortalidade , Expectativa de Vida , Procedimentos Cirúrgicos Cardíacos , Pré-Escolar , Feminino , Cardiopatias Congênitas/cirurgia , Humanos , Hungria/epidemiologia , Lactente , Masculino , Cuidados Paliativos , Prognóstico , Sistema de Registros , Fatores Socioeconômicos , Taxa de SobrevidaRESUMO
Williams syndrome is a complex developmental disorder. The major cardiovascular component of Williams syndrome is supravalvular aortic stenosis, a progressive disease that may need surgical repair. Williams syndrome is associated with heterozygous microdeletion in the chromosomal region 7q11.23 encompassing the elastin gene. We have identified a new, highly informative tetranucleotide repeat polymorphism within the human elastin gene. This marker together with other, previously described elastin gene markers was used to show deletion of the elastin gene in nine sporadic Williams syndrome patients from Hungary. Application of polymorphisms within and flanking the elastin gene on chromosome 7 provides a fast, polymerase chain reaction based method for mutational analysis of Williams syndrome patients.
Assuntos
Estenose da Valva Aórtica/genética , Síndrome de Williams/genética , Estenose da Valva Aórtica/etiologia , Criança , Pré-Escolar , Cromossomos Humanos Par 7 , Elastina/genética , Feminino , Marcadores Genéticos , Heterozigoto , Humanos , Hungria/epidemiologia , Masculino , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo Genético , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico , Síndrome de Williams/epidemiologiaAssuntos
Arritmias Cardíacas/epidemiologia , Doenças do Prematuro/epidemiologia , Antagonistas Adrenérgicos beta/uso terapêutico , Arritmias Cardíacas/complicações , Arritmias Cardíacas/tratamento farmacológico , Arritmias Cardíacas/fisiopatologia , Digoxina/uso terapêutico , Feminino , Seguimentos , Frequência Cardíaca , Humanos , Hungria/epidemiologia , Incidência , Recém-Nascido , Doenças do Prematuro/fisiopatologia , Masculino , Prognóstico , Fatores de RiscoRESUMO
The effects of vitamin A and some carotenoids (beta-carotene, beta-cryptoxanthin, zeaxanthin, lutein, capsorubin, capsanthin, capsanthol and lycopene) were studied (a) on the development of acute gastric mucosal lesions produced by topical application of 0.6 M HCl and (b) on gastric secretion in 4-h pylorus-ligated rats. It was found (a) that vitamin A, beta-carotene, beta-cryptoxanthin, zeaxanthin and lutein significantly inhibited the development of gastric mucosal lesions produced by 0.6 M HCl, while capsorubin, capsanthin, capsanthol and lycopene failed to prevent the development of such lesions; and (b) that vitamin A, beta-carotene, beta-cryptoxanthin, zeaxanthin and lutein, i.e., the carotenoids which exerted a cytoprotective effect, had no inhibitory effect on gastric acid secretion in 4-h pylorus-ligated rats. The possible relationship between chemical structure and gastric cytoprotection is discussed.