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1.
J Endocrinol Invest ; 13(11): 937-41, 1990 Dec.
Article in English | MEDLINE | ID: mdl-2090674

ABSTRACT

A female newborn whose mother was taking propylthiouracil (PTU) for Graves' disease, presented with transient thyrotoxicosis (serum triiodothyronine 1,710 ng/dl) and signs of acute hepatic injury. Jaundice and choluria were evident on her fourth day of life. Serum total bilirubin reached 14 mg/dl, with a direct fraction of 11 mg/dl. Serum alanine aminotransferase and aspartate aminotransferase showed moderate elevations (110 IU/l and 61.5 IU/l, respectively), as well as the alkaline phosphatase which increased to about twice the upper limit of normal. When incubated with PTU, the patient's cultured peripheral lymphocytes underwent transformation to more than twice the values found in 2 controls, with a stimulation index (SI) of 3.19, compared to SI of 1.45 and 1.15 for the controls, suggesting a hypersensitivity mechanism involved in the hepatic injury. Although about 20 cases of PTU induced hepatic damage were reported in the medical literature, this is, as far as we know, the first description of neonatal liver injury probably caused by placental transfer of this drug.


Subject(s)
Chemical and Drug Induced Liver Injury/blood , Lymphocyte Activation/drug effects , Maternal-Fetal Exchange , Propylthiouracil/adverse effects , Alanine Transaminase/blood , Alkaline Phosphatase/blood , Aspartate Aminotransferases/blood , Bilirubin/blood , Cells, Cultured , Female , Humans , Infant, Newborn , Pregnancy , Propylthiouracil/pharmacology , Thyrotoxicosis/chemically induced
2.
Am J Med Genet ; 34(3): 320-4, 1989 Nov.
Article in English | MEDLINE | ID: mdl-2596521

ABSTRACT

Between 1982 and 1985, 109 infants were referred for cytogenetic examination out of a population of 73,192 liveborn infants from eight maternity hospitals surveyed by the ECLAMC/MONITOR program. Thirty-one of the children had a chromosome abnormality different from trisomy 21. Considering the total population surveyed, trisomy 18 was detected in 1:6,099; trisomy 13 was seen in 1:24,397 and unbalanced rearrangements were found in 1:7,319 infants. Those rates were not significantly different from the expected ones, as compared to previous cytogenetic surveys of consecutive births. We concluded that most chromosome abnormalities associated with congenital malformations can be detected at low cost, provided there is a high accuracy of clinical examination and referral criteria, as well as close cooperation between pediatricians and geneticists.


Subject(s)
Chromosome Aberrations/genetics , Congenital Abnormalities/genetics , Brazil/epidemiology , Chromosome Aberrations/diagnosis , Chromosome Aberrations/epidemiology , Chromosome Disorders , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , Congenital Abnormalities/epidemiology , Humans , Infant, Newborn , Mass Screening/economics , Trisomy
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