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Biomedical subjects

A Czeizel

Publications and source records attributed to A Czeizel.

At least 37 records · Page 2Linked to original sources

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↗

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↗

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↗

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↗

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↗

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↗

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↗

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↗

A pathogenesis-oriented classification of congenital abnormalities.

The modern anatomical-pathological approach in the evaluation of congenital abnormalities (isolate: single, complex, polytopic field defect, sequence and multiple: syndrome, association, random combination) is shown. Due to the population-based Hungarian Congenital Malformation Registry a number of new congenital abnormality entities were described.

Abnormalities, Multiple↗

The problem of comparative analysis of birth prevalence of congenital cardiovascular malformations.

A number of published papers have dealt with the comparison of birth prevalences of congenital cardiovascular malformation (CCVMs). The feasibility of meaningful intercountry comparison was explored during the visiting fellowships to Dr Andrew Czeizel of Charlotte Ferencz and Dr Francine Lys. Data from three Hungarian studies, one USA and one Belgian study are presented here for selected CCVMs. Differential perinatal and diagnostic circumstances which lead to possible causes of bias involve four main domains: study population, ascertainment of cases, categorization of CCVMs and diagnostic definitions. Unique features are highlighted as a descriptive framework which will promote the comparability of epidemiologic data from various regions.

Blood Vessels↗

Hungarian surveillance of germinal mutations. Lack of detectable increase in indicator conditions caused by germinal mutations following the Chernobyl accident.

The Hungarian surveillance of germinal mutations is based on three indicator conditions seen in offspring, i.e., 15 sentinel anomalies, Down syndrome and component anomaly pairs of unidentified multiple congenital anomalies. It is an "opportunistic program," because the necessary data are available from the Hungarian Congenital Malformation Registry. This system is described and the criteria of a good registry are summarized. The analysis of indicator conditions caused by germinal mutations did not reveal any measurable mutagenic effects in Hungary following the accident at the Chernobyl nuclear power plant. The pros and cons of germinal mutation surveillance are discussed.

Abnormalities, Multiple↗