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10 results on '"Hrycejová I"'

1. Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism

Author

Karsten R. Held, Hrycejová I, Göran Annerén, Burjanková J, Hronková J, Milan Macek, Karl-Henrik Gustavson, and Tomásová H

Subjects
Amniotic fluid, Prenatal diagnosis, Biology, Trisomy 8, digestive system, Andrology, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Genetics (clinical), Chromosome Aberrations, Fetus, gamma-Glutamyltransferase, Amniotic Fluid, medicine.disease, digestive system diseases, Fragile X syndrome, Fetal Diseases, Gestation, Female, Trisomy, Metabolism, Inborn Errors
Abstract

The activity of gamma-glutamyl transferase (GGT) was measured in amniotic fluid collected between the 16th and 30th weeks of gestation from 81 pregnancies with fetuses affected by chromosomal aberrations, nine with different types of inborn errors of metabolism, two with hemophilia A and one with fragile X syndrome. The GGT activity was compared with that from 1000 normal pregnancies and deliveries resulting in healthy newborns. Contamination of amniotic fluid by blood did not affect the GGT activity. Pathologically decreased activity was found in 25 of 56 amniotic samples from pregnancies with fetal autosomal chromosomal aberrations (44.6%). It was decreased in 15 of 35 pregnancies with fetal trisomy 21 (43%), in 11 of 19 pregnancies with fetal trisomy 18 (58%), in one of three pregnancies with fetal trisomy 13 and in two pregnancies with fetal trisomy 8 and triploidy, respectively. In only three of 16 pregnancies with fetal sex chromosomal aberrations was the GGT activity low. Increased GGT activity was found in three of six pregnancies with unbalanced structurally rearranged karyotypes of the fetuses. Normal GGT activity was observed in all nine amniotic fluid samples from pregnancies with fetuses affected with different forms of inborn errors of metabolism diseases, in the two pregnancies with hemophilia A and in the pregnancy with a male fetus with fragile X syndrome. These and earlier findings indicate that the GGT activity in amniotic fluid is mostly decreased in pregnancies with severe fetal developmental abnormalities, such as autosomal chromosomal aberrations, which could possibly be secondary to an alteration of the microvillar transport system of GGT to the amniotic fluid. GGT testing could thus be a valuable screening method for routine use in prenatal diagnosis of second-trimester pregnancy.

Published
2008
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3. Distribution of age at death in children with congenital heart disease who died before the age of 15.

Author

Samánek, M, Benesová, D, Goetzová, J, and Hrycejová, I

Abstract

In the 27 years from 1952 to 1979 (before the introduction of advanced cardiac surgery) all children in Central Bohemia (population 1.2 million) who died before the age of 15 were examined at necropsy. Period death rates at various ages were calculated in those with congenital heart disease. Nearly all the deaths (848, 89.6%) occurred in the first year. Forty three (44% of survivors) died in the second year and 17 (31% of survivors) died between the second and fifth years. Over half (20) of the survivors died between the fifth and tenth years. Nearly half (44.2%) of those born with congenital heart disease who died before the age of 15 died in the first four weeks. About a third (29.1%) died in the first week and period death rates were 9.7%, 7.6%, and 5.7% for the second, third, and fourth weeks respectively. In neonates death rates were highest in those with hypoplastic left heart syndrome (89.2%), coarctation of the aorta (66.7%), truncus arteriosus (61.8%), double outlet right ventricle (57.1%), and pulmonary atresia (56.3%). [ABSTRACT FROM PUBLISHER]

Published
1988
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6. [The probability of survival in children with heart defects not treated surgically].

Author

Samánek M and Hrycejová I

Subjects
Adolescent, Child, Child, Preschool, Heart Defects, Congenital surgery, Humans, Infant, Infant, Newborn, Heart Defects, Congenital mortality
Abstract

Data on the age at death of children with congenital heart disease recorded 27 years before the introduction of cardiacsurgery on a territory where all deceased children were subjected to necropsy and data on the incidence of heart disease in the child population in Bohemia were used to calculate probable survival. Of liveborn infants with heart disease 90% surviev the first week, 86% the first month, 74% six month, 71% the first year and 67% 15 years. Pulmonary stenosis and a ventricular septal defect have the most favourable prognosis. The syndrome of a hypoplastic left heart, double outlow right ventricle, total anomalous pulmonary venous return, arterial truncus and pulmonary atresia have the most adverse prognosis.

Published
1989

10. [Gamma-glutamyltransferase activity in amniotic fluid in fetuses with chromosome abnormalities and hereditary metabolic defects].

Author

Macek M, Gustavson KH, Held K, Tomásová H, Hronková J, Burjanková J, and Hrycejová I

Subjects
Chromosome Disorders, Clinical Enzyme Tests, Female, Humans, Pregnancy, Amniotic Fluid enzymology, Chromosome Aberrations diagnosis, Fetal Diseases diagnosis, Metabolism, Inborn Errors diagnosis, Prenatal Diagnosis, gamma-Glutamyltransferase analysis
Published
1987

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