RESUMO
In this report two non consanguineous children are presented with strikingly similar phenotypes confirming the existence of a characteristic phenotype due to a ring chromosome 14 formation.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos 13-15 , Bandeamento Cromossômico , Transtornos Cromossômicos , Citogenética , Feminino , Humanos , Lactente , Masculino , FenótipoRESUMO
The birth prevalence of CNS malformations in the region of Krakow from 1979 to 1981 was determined to be 1.26/1000 from records of all live- and still-birth deliveries. The frequency of anencephaly was 0.23/1,000; spina bifida and encephalocele, 0.70/1000; isolated hydrocephaly, 0.26/1,000; and other CNS anomalies, 0.06/1,000. The observed rates are below the median European level. Female preponderance was found among the probands with anencephaly, encephalomeningocele, and myelomeningocele. Cytogenetic examination of 35 newborns with CNS malformations documented normal karyotypes in all neonates. The analysis of seasonal distribution of proband's birthdate and of date of mother's last menstrual period showed no significant seasonal trend.
Assuntos
Defeitos do Tubo Neural/epidemiologia , Estudos Transversais , Humanos , Recém-Nascido , Polônia , Estações do AnoAssuntos
Anticorpos Antivirais/isolamento & purificação , Proteínas Sanguíneas/análise , Proteínas do Líquido Cefalorraquidiano/análise , Vírus do Sarampo/imunologia , Esclerose Múltipla/metabolismo , Panencefalite Esclerosante Subaguda/metabolismo , Criança , Doença Crônica , Humanos , Esclerose Múltipla/imunologia , Panencefalite Esclerosante Subaguda/imunologiaRESUMO
The effect of low-calcium diet and vitamin D-3 on acid-base balance in young rabbits. Acta Physiol. Pol. 1975, 26 (1): 103-108. The effect of secondary hyperparathyroidism and vitamin D-3 on the acid-base balance was investigated in young rabbits. No metabolic acidosis was found in animals given vitamin D-3 in addition to low-calcium diet.
