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A Czeizel

Publications and source records attributed to A Czeizel.

At least 19 recordsLinked to original sources
PubMed1992

The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children.

In Hungary, the school-age prevalences of severe visual handicaps and of profound childhood deafness have been estimated to be about 6/10(4) and 10/10(4), respectively. Most of these conditions have onset at birth or in early childhood and are aetiologically heterogeneous. Severe visual handicaps are grouped under 11 aetiological categories, their relative contributions to the prevalence being: perinatal damage syndrome (20%; half of this is due to retinopathy of premature infants), cataracts (15%), choroidoretinal degenerations (15%), congenital abnormalities of the eye (15%), syndromes (10%), high myopia +/- retinal detachment (7%), postnatal causes (5%), nystagmus (5%), optic atrophy (4%), bilateral retinoblastoma (2%) and prenatal causes (2%). Overall, Mendelian conditions (included under many of the above) account for about 50% with relatively more autosomal dominant than autosomal recessive and sex-linked entities, and acquired causes account for about 40% of the cases studied. No aetiology could be assigned in 10% of the cases. For profound childhood deafness, the rank order of the aetiological categories is: autosomal recessive entities (34%), postnatal causes (22%), perinatal causes (19%), autosomal dominant entities (17%), prenatal causes (5%) and unknown causes (3%). Severe childhood visual handicaps are responsible for about 60 years of loss of life per 10(4) live births and about 400 years of impaired life per 10(4) live births. Genetic causes account for one-quarter of lost life years and three-quarters of impaired life years. The comparable estimates for profound childhood deafness are: about 240 years of life loss per 10(4) live births (again, about one-quarter due to genetic causes) and about 640 years of impaired life per 10(4) live births (about one-half due to genetic causes). In all these calculations, it has been assumed that the average life expectancy at birth for an individual in the population is 70 years.

Adolescent↗
PubMed1992

Patterns of acrorenal malformation associations.

Limb and urinary tract defects have frequently been reported to occur together as components of a single acrorenal field defect or in many multiple malformation syndromes. However, the concordance of such anomalies has rarely been studied on a population basis or the relationships between specific limb and renal defects defined. This paper documents the patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975-1984. In all, 1 in 1,800 infants had a limb deficiency and 9% of these (75 cases) had a urinary tract anomaly. Urinary tract anomalies were most commonly seen with radial ray defects, micromelia and amelia. The commonest recognized patterns were VACTERL association and the cloacal exstrophy and caudal regression sequences. Chromosomal and single gene defects also occurred. Numerical taxonomic techniques delineated six main clusters of patients. Important groupings included micromelia with renal agenesis, split hand/foot with hydronephrosis, and radial ray anomalies with VACTERL defects. The radial ray groups differed in the nature of the VACTERL anomalies seen and with respect to laterality, symmetry, and non-VACTERL anomalies. There was a strong association of bilateral limb defects with bilateral renal anomalies and unilateral with unilateral. Ipsilateral defects tended to occur in typical VACTERL cases, while contralateral defects tended to occur with additional non VACTERL midline anomalies. Although renal and limb anomalies are associated, in almost all cases malformations in other systems are also present. The precise nature of the malformation patterns seen appear to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects.

Abnormalities, Multiple↗
PubMed1992

Persistence of chromosomal aberrations in blood lymphocytes of testicular cancer patients. II. The effect of chemotherapy and/or radiotherapy.

Chromosome aberrations were studied in peripheral blood lymphocytes from untreated testicular cancer patients and others treated with chemo- and/or radiotherapy. A distinct increase in spontaneous aberrations over the level of healthy controls was found in patients treated with surgery alone. Our data suggest the existence of a certain degree of chromosome instability which may be a factor in the development of malignancy for testicular tumours, too. The frequency of aberrant cells was much higher in treated groups than in controls, and the total of aberrations was therapy related. The frequency of aberrant cells was the highest in the first 2 years after the end of treatments similarly to the results of 3 serially examined individuals. The decrease in aberrant cells was time-dependently gradual only in X-ray-treated patients. Real conclusions about the nature of therapy-related persistence of aberrant cells can be drawn from the study of a sufficient number of testicular cancer patients studied more than 1 year after the end of treatments.

Chromosome Aberrations↗
PubMed1992

Unidentified multiple congenital abnormalities in twins. A population-based Hungarian study.

Of 1038 index patients with multiple congenital abnormalities, 34 were twins. This 3.3 per cent is higher than the Hungarian birth rate of about 2.1 per cent. However, after the exclusion of cases with congenital abnormality association of low birth weight newborn infants and with genital anomalies of the male, the twin birth rate was 1.8 per cent. Thus, the unidentified multiple congenital abnormalities have no common cause with twinning.

Abnormalities, Multiple↗
PubMed1991

High consanguinity rate in Hungarian gipsy communities.

Reproductive data of 1074 gipsy women between 13 and 52 years with one or more children were obtained by gipsy social workers through anonymous personal interview confirmed by available official documents. Socioeconomic status of five different gipsy communities studied is much lower than the Hungarian average. Their reproductive activity is also different, e.g., first births occur in much younger age. The high endogamy was proved by the gipsy origin of male partners in 90% of couples. The occurrence of first cousin couples was 16 times higher than that of the Hungarian population at large, however, its range was wide from 0% to 21% in different regions studied.

Adolescent↗
PubMed1991

An aetiological study on 6 to 14 years-old children with severe visual handicap in Hungary.

A population-based aetiological study was carried out on 6 to 14 years-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%), retinopathy of premature (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%), prenatal causes (1.8%). A significantly higher rate of previous induced abortions was found in the group of retinopathy of premature. 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

Birth prevalence of different congenital limb deficiency types in a revised, population based Hungarian material, 1975-1984.

998 cases affected with limb reduction deficiency were evaluated in Hungary, 1975-1984. Through the check-up of other sources of ascertainments, the Hungarian Congenital Abnormality Registry was found to be 98.4% complete. The proportion of misdiagnoses was 12.6%. In the period encompassed by the study, the birth prevalence of revised cases affected with congenital limb reduction deficiency was 0.55 per 1000 total births. Isolated and multiple cases were separated. The birth prevalence of revised isolated cases was 0.35 per 1000. Six types were separated based on their phenotypic manifestations. As the number of affected limbs, ratio of isolated and multiple cases and sex ratio showed obvious differences, etiological factors should be evaluated separately in these different types of congenital limb deficiencies.

Congenital Abnormalities↗
PubMed1990

Correlation between the birth prevalence of isolated hypospadias and parental subfertility.

Factors associated with the occurrence of isolated hypospadias have been studied. We previously reported a secular trend association between hypospadias occurrence and progestagen use by the Hungarian population. Further study does not support that secular trend association. The use of progestagens for the treatment of reproductive problems is a very complex issue, and there are other factors relating to male and female fertility that differentiate the hypospadias families from the controls. It appears that families with problems of subfertility are at increased risk for the occurrence of hypospadias. Our data support more recent studies, which do not demonstrate an association between the occurrence of hypospadias and the administration of progestagens in humans.

Allylestrenol↗
PubMed1990

Evaluation of drug intake during pregnancy in the Hungarian Case-Control Surveillance 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, 21,546 negative controls, and 828 positive controls (Down syndrome). Excluding pregnancy supplements, the proportion of no drug use was about 30% and the mean number of drugs used was 2.0 in the 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 consequences: negligence in necessary drug use, unnecessary anxiety in pregnant women, and termination of planned pregnancies without any reasonable cause.

Abnormalities, Drug-Induced↗
PubMed1990

The load of genetic and partially genetic diseases in man. III. Mental retardation.

This paper summarizes estimates of detriment associated with different etiologic categories of mental retardation (MR) in Hungary. The basic data derive from an earlier study carried out in Budapest on 1276 school-age mentally retarded children (with some etiologic reclassification based on recent studies). Detriment associated with these different categories of MR is expressed in terms of years of lost and impaired life. About 30 per 10(3) school-age children in Hungary are mentally retarded (mild + severe MR), one-tenth of whom have severe MR (IQ less than or equal to 50); 50% of the latter are institutionalized. The breakdown on the basis of etiology is as follows: gene mutations and chromosomal abnormalities, about 4 per 10(3); 'familial' (multifactorial) causes, 12 per 10(3); adverse pre-, peri- and post-natal causes, 11 per 10(3); and 'causes as yet unknown', the remainder. The estimates of mean number of years of lost life range from 42 to 68 (depending on the etiologic category), with an overall mean of 58. The total number of years of lost life is about 36,000 per 10(4) live births of which over 70% is due to pre-, peri- and post-natal causes, 18% due to 'familial' causes and the remainder due to Mendelian and chromosomal diseases. The total number of years of impaired life is about 7300 per 10(4) livebirths, 50% of which is due to 'familial' causes. While admittedly approximate, these estimates suggest that detriment associated with MR-related causes is not inconsiderable. Additionally, they provide some indication of causes of MR which are minimizable.

Adolescent↗
PubMed1990

International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper No. 10. A new approach to germinal mutation surveillance: pair-wise evaluation of component elements in unidentified multiple congenital abnormalities.

In the Hungarian population-based surveillance of germinal mutations, 3 indicator conditions of offspring are being followed, namely 15 sentinel anomalies, Down syndrome and unidentified multiple congenital abnormality. The latter is discussed here as a possible indicator of germinal dominant gene and chromosomal mutations. The component congenital abnormalities of unidentified multiple congenital abnormalities are classified into 45 groups. The component congenital abnormalities were reduced to pairs. A pair is a set of 2 independent component congenital abnormalities in index patients with 2 or more congenital abnormalities. Baseline figures of all component congenital abnormality pairs in 3722 unidentified multiple congenital abnormalities were determined in the study period 1973-1982. The observed data for 1983 were compared with expected occurrences based on baseline figures. This pair-wise evaluation of component elements within unidentified multiple congenital abnormalities seems to be an adequate surveillance method to detect any time cluster of congenital abnormality pairs due to environmental factors including germinal mutagens.

Abnormalities, Multiple↗
PubMed1990

A case-control analysis of the teratogenic effects of co-trimoxazole.

The possible teratogenic effect of co-trimoxazole (sulfamethoxazole and trimethoprim, Bactrim [Roche], Septrin or Septra [Burroughs-Wellcome], Sumetrolim [EGIS]) was evaluated using the data set of the Hungarian Case-Control Surveillance of Congenital Anomalies. In the study period of 1980 through 1984, 1.25% of pregnant women who had healthy babies (negative control group) were treated with co-trimoxazole during pregnancy. In those who had babies with congenital anomalies the rate of co-trimoxazole use was 2.31%. The case-control analysis showed a significant increase of co-trimoxazole use only in the groups of cleft lip +/- cleft palate and hypospadias. However, drug use was not higher during the critical period in either of the congenital anomaly groups. The distribution of component congenital anomalies in 13 cases affected by multiple congenital anomalies did not show any characteristic pattern. Respiratory and urinary system diseases were mentioned significantly more frequently in pregnancies of index patients' mothers. This analysis did not indicate any teratogenicity of co-trimoxazole. The higher drug use can probably be explained by maternal disorders.

Abnormalities, Drug-Induced↗
PubMed1990

Genetic-epidemiologic study of haemophilia A and B in Hungary.

All known surviving haemophiliacs A and B and their relatives were reexamined by laboratory and clinical methods and evaluated by a genetic-epidemiologic approach in 4 north-western countries of Hungary. The prevalence of haemophilia A and B patients born in the fifties was 2.73 and 0.25 per 10,000 persons, respectively. The reproductive fitness was found to be 0.3 in haemophilia A, and 0.8 in haemophilia B patients. The mutation rates calculated by the indirect method were 6.3 x 10(-5) for haemophilia A and 0.2 x 10(-5) for haemophilia B.

Family Planning Services↗
PubMed1990

Persistence of chromosomal aberrations in blood lymphocytes of testicular cancer patients. I. The effect of vinblastine, cisplatin and bleomycin adjuvant therapy.

Chromosomal aberrations and sister chromatid exchanges were examined in 45 patients with nonseminomatous testicular cancer at different times after the termination of vinblastine, cisplatin and bleomycin (VPB) therapy and in 22 age-matched healthy men and untreated testicular cancer patients. After 36 months, the frequency of unstable aberrations markedly decreased in peripheral blood lymphocytes of VPB-treated patients, however the persistence of aberrant cells even 75 months after the termination of treatment underlines the necessity of longer follow-up of VPB-treated patients in order to evaluate the relationship between their carcinogen sensitivity and the risk of second malignancies.

Antineoplastic Combined Chemotherapy Protocols↗