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Biomedical subjects

A Czeizel

Publications and source records attributed to A Czeizel.

At least 55 records · Page 3Linked to original sources
PubMed1989

Population surveillance of sentinel anomalies.

Three types of indicator conditions, namely sentinel anomalies, Down syndrome and pair-wise evaluation of component congenital anomalies in unidentified multiple congenital abnormalities, are evaluated continuously in Hungary. This paper summarizes some data of the Hungarian Surveillance of Sentinel Anomalies (1980-1987). The observed rate of 15 sentinel anomalies was 3.7 per 10,000 live births. An average of 35 new mutations per 100,000 live births was found annually. This database is appropriate for the estimation of mutation rates in these sentinel anomalies. The mean maternal age did not differ significantly in comparisons of either sporadic vs. familial cases or sporadic vs. matched control cases. However, the mean paternal age was significantly higher in the sporadic cases than in the familial and matched control cases. The analysis of environmental histories in sporadic cases is in progress.

Abnormalities, Multiple↗
PubMed1989

Conjoined twins in Hungary, 1970-1986.

The total prevalence of conjoined twins (birth + prenatally diagnosed) was 1:68,000 in the study of 1970-1986. Symmetrical cases (the so-called siamese twins) have an obvious predominance (92.3%). Associated major malformations occurred in 80% of conjoined twins and more than 1/5 were discordant. The surviving time of liveborn conjoined twin sets was not more than two days except in two surgically successfully separated pairs. The family study did not indicate a higher recurrence risk. The case group was compared to two control groups and it appeared that the periconceptional use of oral contraception and ovulation induction were mentioned more frequently in pregnancies resulting in conjoined twins.

Adult↗
PubMed1989

Birthweight of single livebirths and weight specific early neonatal mortality in Hungary and Norway.

Comparisons of birthweights of single livebirths in Hungary and Norway reveal distributions to have similar shapes; however, in the case of Hungary the distribution is shifted to the left, i.e. towards lower weights. In the registration of pregnancy outcomes, almost identical definitions are applied in the two countries, and the observed difference in distributions of birthweights is taken to reflect that Norwegian livebirths, are on average about 300 g heavier than Hungarian livebirths. Employing the method of analysis of birthweight and perinatal mortality suggested by Wilcox & Russell, it can be demonstrated that the proportions of births in the residual distributions of birthweights in the two countries are of the same magnitude and that the relative differences in first week mortality risks are similar for all birthweights. These results are taken to support the conclusion that to use a cut-off point of 2500 g in defining low birthweight, which will result in a two fold higher proportion of such infants in Hungary compared to Norway, is unwarranted, as it will falsely convey the impression of relatively more obstetric and paediatric problems in Hungary.

Birth Weight↗
PubMed1989

A hungarian study on Werdnig-Hoffmann disease.

The prevalence of Werdnig-Hoffmann disease was found to be 0.66 per 10,000 livebirths in Hungary from 1973 to 1980. However, the true prevalence is estimated to be 1 per 10,000 livebirths, which exceeds the level of a previously published English study. There was no higher fetal death rate in previous and subsequent pregnancies of index patients' mothers. The occurrence in sibs was 32%, probably because of greater ascertainment in families with more than one affected child.

Gene Frequency↗
PubMed1989

Drug use during pregnancy in Hungary.

The data-set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1985, demonstrates the occurrence and distribution of drug intakes during pregnancy in the so-called negative control pregnant women delivering unmalformed babies. Of 13.882, only 1260 (9.1%) did not mention drug intakes during pregnancy studied. When vitamins, iron and calcium supplements are excluded, this proportion increases to 29.1%. The most frequently used categories of drugs were sex hormones (41.8%) mainly as hormonal support therapy sedatives, hypnotics and other drugs acting on the central nervous system (38.8%), and drugs acting on the cardiovascular system (33.9%).

Female↗
PubMed1988

Additive congenital anomaly patterns.

A family study was conducted on 1,038 index patients with unidentified multiple congenital abnormality (MCA) patterns in the population-based material of the Hungarian Congenital Malformation Registry (HCMR). Congenital abnormalities (CAs) were detected in 5.1% of fathers and in 4.2% of mothers, respectively. Two fathers had an MCA pattern similar to that in their affected child. One component CA of multimalformed index children occurred in 55.1% of fathers and 52.3% of mothers. Thus, in more than half of affected parent-child pairs, there may be a causal connection between the observed anomalies. The combination of CAs of different parental origin in index patients is called "additive CA pattern." This group of patients may represent about 5% of unidentified MCA patterns and about 50% of affected parent-child pairs.

Abnormalities, Multiple↗
PubMed1988

A nationwide evaluation of multiple congenital abnormalities in Hungary.

A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA (320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were excluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.

Abnormalities, Drug-Induced↗
PubMed1988

A study of adverse effects on the progeny after intoxication during pregnancy.

The pregnancy outcomes of 109 women who were intoxicated during pregnancy due to excessive amounts of drugs and other agents were studied. Seventy per cent of the women attempted suicide, and the intoxication in 78% of all cases was caused by drugs. The stillbirth rate (4%) was higher than that in previous and subsequent pregnancies of these index females. The rate of spontaneous abortions, major congenital abnormalities, minor anomalies, infant mortality, and specific childhood diseases did not increase significantly. Seven major congenital abnormalities occurred in 96 live births; five of these definitely had no causal relation with the intoxication. The mean birthweight of the liveborn infants was not significantly lower than that of their sibs but it was significantly lower than that of sibs born previously and that of the Hungarian population. The percentage of mentally retarded offspring (6.5%) exceeded the national figure (about 3%) and the rate of sibs (2.7%); however, the difference was not significant. Three of 93 children had serious behavioral problems.

Abnormalities, Drug-Induced↗
PubMed1988

Lower prevalence of chromosome aberrations and SCEs in self-poisoned pregnant women.

A cytogenetic investigation was conducted in 18 self-poisoned pregnant and 16 self-poisoned non-pregnant women and in 31 pregnant and non-pregnant controls. Blood samples for analysis of chromosomal aberrations and SCEs were collected from women who were at different early stages of pregnancy. The difference between self-poisoned women and controls was very highly significant in the case of chromatid-type and unstable chromosome-type aberrations and highly significant in the case of SCEs. Further, the frequency of chromatid aberrations in pregnant women relative to non-pregnant ones was significantly lower suggesting a possible protective effect of pregnancy.

Adolescent↗
PubMed1988

The load of genetic and partially genetic diseases in man. II. Some selected common multifactorial diseases: estimates of population prevalence and of detriment in terms of years of lost and impaired life.

This paper presents epidemiological data on the prevalence of 26 common (i.e., having a lifetime prevalence of more than 1 per 10(4) individuals in the population) multifactorial diseases in Hungary and estimates of detriment associated with them. The detriment is expressed using 3 indicators, namely years of lost life (LL), potentially impaired life (PIL) and actually impaired life (AIL). The total prevalence of these diseases in Hungary has been estimated to be about 6500 per 10(4) individuals in the population. This estimate is in agreement with published data for other parts of the world. On the basis of clinical severity, these diseases have been split into 3 groups, namely (1) very severe (schizophrenia, multiple sclerosis, epilepsy, acute myocardial infarction and related conditions, and systemic lupus erythematosus); (2) moderately severe and/or episodal or seasonal (15 entities including Graves' disease, diabetes mellitus, gout, affective psychoses, essential hypertension, peptic ulcers, asthma, etc.); and (3) less severe than those in the first 2 groups (varicose veins, allergic rhinitis, atopic dermatitis, Scheuermann disease and adolescent idiopathic scoliosis). The essential clinical and genetic aspects of these diseases are briefly discussed. With the exception of epilepsy, none of the diseases included in our list causes mortality between ages 0 and 19. However, they are among the leading causes of death between ages 20 and 69 and thereafter. A sizeable proportion of those with essential hypertension, diabetes mellitus, rheumatoid arthritis, etc. survive to 70 years and beyond, as do those with gout, glaucoma, allergic rhinitis, psoriasis, etc. Overall, about 16% of all deaths that occur in Hungary every year (all age groups) can be attributed to these diseases. The mean number of years of PIL covers a wide range (about 20-40, 12-70 and 40-60 for groups 1, 2 and 3, respectively), the overall mean being about 24 years. However, the nature and degree of impairment and the impact on the life quality of those afflicted differ for the different diseases. Likewise, the mean number of years of AIL (for which the interval between the mean age at premature retirement and mean age at death was used as a rough index) also spans a wide range from 16 to 45, and the overall mean is about 20 years. At the population level, the diseases considered in this paper cause about 2700 years of LL, 96,000 years of PIL and about 5800 years of AIL per 10(4) individuals in the population. Relative to Mendelian diseases as a whole, these multifactorial diseases are associated with much greater detriment (LL: 1.4 X; PIL: 30 X and AIL: 3.9 X).

Biometry↗
PubMed1988

The activities of the Hungarian Centre for Congenital Anomaly Control.

The Hungarian Centre for Congenital Anomaly Control manages a number of surveillance programmes based on the Hungarian Congenital Malformation Registry. Notification of congenital anomalies, which is compulsory, originates exclusively from physicians working in various health institutions and is based on their diagnosis of malformed patients--newborns and infants. In recent years, the total birth prevalence of registered congenital anomalies has exceeded 47 per 1,000 total births. The notified data are critically evaluated and centrally coded according to the unit of notification, the affected individual. Diagnostic accuracy, completeness of notifications and the effect of confounding variables are continuously checked. The purpose of the Case-Control Surveillance System is to obtain etiological information concerning drug consumption, maternal diseases and occupational hazards during pregnancy. The surveillance of mutations through indicator conditions (sentinel anomalies. Down's syndrome and pairs of components of unidentified multiple congenital anomalies) is an attempt to measure the rate and trend of new germinal mutations. The nationwide follow-up of multimalformed infants helps to increase the proportion of identified congenital anomaly entities, to identify new ones, and to detect clusters caused by new environmental teratogenic or mutagenic factors.

Abnormalities, Multiple↗
PubMed1988

A case-control study to evaluate the risk of congenital anomalies as a result of allylestrenol therapy during pregnancy.

The 1980-1984 data base of the Hungarian Case Control Surveillance System for Congenital Anomalies was used to evaluate possible teratogenicity of allylestrenol therapy during pregnancy. In an initial global analysis, three of the 24 congenital anomaly groups studied (ie, clubfoot, multiple anomalies, and hypospadias) had a significantly higher incidence of allylestrenol use. A case control analysis, however, excluded a pathogenetic role for allylestrenol in the etiology of clubfoot and multiple congenital anomalies. A greater use of allylestrenol in the first global evaluation was explained by a higher incidence in these groups of impending miscarriage and preterm labor, which are indications for allylestrenol therapy. The case control analysis did indicate a greater use of allylestrenol in the hypospadias group, but this difference was not statistically significant in the critical period for induction of hypospadias (ie, the third and fourth months of gestation). The causal role of subfertility in the etiology of hypospadias was an indirect factor, explaining the greater use of allylestrenol during pregnancy in this group; in Hungary, women with a history of infertility frequently receive hormonal support in the first trimester. The authors conclude that the data analyzed do not indicate any teratogenic effects of the use of allylestrenol during pregnancy.

Abnormalities, Drug-Induced↗