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Biomedical subjects

E Czeizel

Publications and source records attributed to E Czeizel.

At least 19 recordsLinked to original sources
PubMed1992

[Evaluation of the effect of drug intake during pregnancy based on the Monitoring Surveillance of the Pathogenesis of Congenital Anomalies].

The data of the Hungarian Case-Control Surveillance of Congenital Anomalies, 1980-1987 were evaluated concerning drug intake during pregnancy in 10,698 index patients, 21,564 negative controls and 828 positive controls. Excluding pregnancy supplements, the proportion of no drug users was about 30% and the mean number of drugs used was 2.0 in negative control group. These figures did not differ significantly from data of study and positive control groups. The analysis of most commonly used drugs indicated an extremely high proportion of hormonal support therapy. The teratogenic effect of several human teratogenic drugs was confirmed. However, their use is relatively rare and their attributable risk within the etiology of congenital anomalies is low, at about 0.3-1.0%. At present the teratogenic risk of drugs in humans is exaggerated and it has several unfortunate con-sequences: negligence of necessary drug use, unnecessary anxiety in pregnant women, termination of planned pregnancies without any reasonable cause.

Abnormalities, Drug-Induced↗
PubMed1992

[Relationship between weight increase during pregnancy and weight of the newborn].

The data of first 1000 first-born, non-malformed, mature (greater than or equal to 2500 g) offspring of participants in the Hungarian "Optimal" Family Planning Programme were evaluated. The mean maternal weight gain during pregnancy was 13 kg which was modified by the body weight of women. Maternal weight gain exceeded 13 kg in 54% of pregnant women. There was an obvious positive correlation between maternal weight gain and birth weight which was calculated as 26.6 g/kg.

Birth Weight↗
PubMed1991

[Benefits of ecogenetics in Hungary].

Five enzymes and one protein were studied in 10 ethnical and two reference groups involving 1370 persons. The frequency of atypical heterozygotes of plasma cholinesterase was 2.7%. Aldehyde dehydrogenase I isozyme deficiency was found in four persons including two gypsies. The low paraoxonase activity was found in 48.7% of persons examined. The proportion of gene frequencies of sigma-ALADH-1 and sigma-ALADH-2 in the locus of sigma-amino-levulinic acid dehydratase was 9:1. The percentage of slow acetylators was 56.9% in the total study sample. The rate of heterozygotes in Pi alleles of alpha 1-antitrypsin (protease-inhibitor) was 3.7% and one Pi ZZ phenotype could be observed.

Aldehyde Dehydrogenase↗
PubMed1991

[Prevalence of severe visual impairement in school-age children in Hungary].

The recorded prevalence of 6 to 14 year-old children with severe visual handicap was 0.43 per 1000 in Hungary, 1983/84. The territorial distribution showed significant difference in prevalences, the highest figures were found in two entities with three special institutions for severely visually handicapped children. Thus, the recorded figures are underascertained and the estimated rates are 0.52-0.60 and 0.21 per 1000 for children with severe visual handicap and, within it, blindness, respectively.

Adolescent↗
PubMed1991

[Split hand/foot abnormalities: classification, pathogenesis, epidemiology].

Authors report on the genetic epidemiologic investigation of one of the sentinel anomalies made on purpose to define the birth prevalence of the different types of it, to calculate the mutation rate of autosomal dominant forms as well as to recognize the clinical features of Hungarian cases. 58% of all cases registered in the Hungarian Congenital Abnormality Registry in 1975-1984 proved to be atypical. The birth prevalence of autosomal dominant forms was 1.33/100.000 total birth. 71% of dominant forms was sporadic since 29% was familial. Thus the mutation rate was estimated 4.7 x 10(-6) +/- 1.22 x 10(-6).

Female↗
PubMed1991

[Pathogenesis of severe vision deficiency in school-age children in Hungary].

A population-based aetiological study was carried out on 6 to 14 year-old severely visually handicapped children in Hungary. Of the 547 recorded cases 491 (90%) were included in the analysis. Eleven aetiological groups were separated: isolated cataracts (16.7%), congenital abnormalities of the eye (15.1%), high myopia +/- retinal detachment and other cases (13.4%), retinopathia praematurorum (11.0%), choroidoretinal degenerations (10.0%), syndromes (9.6%), nystagmus and/or hypermetropia (9.0%), isolated and complicated optic atrophy (6.7%), postnatal causes (4.9%), retinoblastoma (1.8%), praenatal causes (1.8%). A significantly higher rate of previous induced abortions was found in the group of retinopathia praematurorum. Perinatal damage syndrome and Mendelian monogenic defects are the two most common aetiological categories in the origin of severe visual handicaps in Hungary.

Adolescent↗
PubMed1991

[Holt-Oram syndrome].

Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).

Abnormalities, Multiple↗
PubMed1990

[Public health aspects of the Martin-Bell syndrome].

A carrier mother has eleven children. Of 5 boys, four are affected by Martin-Bell syndrome. Of 6 girls, four were found carrier. Authors summarise the medical genetic characteristics of this syndrome which is the second most common genetic cause of mental retardation.

Adult↗
PubMed1990

[The practice of genetic counseling].

The most important practical application of medical genetics is the genetic counselling. It is based on the specific burden of potential offspring which involves severity and treatibility of expected disorder, possibility of prenatal diagnosis, risk, etc. The separation of specific and random burdens is also very important. In Hungary a new counselling method entitled "information guidance counselling" was introduced which means an intermediate position between directive and nondirective counselling because of the expectation of family planners.

Congenital Abnormalities↗
PubMed1990

[Genetic study of diaphragmatic defects].

The occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.

Abnormalities, Multiple↗
PubMed1990

[Evaluation of the teratogenic effects of occupational hazards during pregnancy].

The Hungarian Case-Control Surveillance System of Congenital Anomalies, 1980-1987 contains 10,937 index patients affected by congenital anomalies and 10,937 matched control cases. Their comparative analysis indicated a significantly higher rate of some congenital anomaly types in the offspring of women worked in agriculture and "other" categories. However, a more detailed analysis of data set (according to different working places) is needed for the improvement of health protection.

Air Pollutants, Occupational↗