Biomedical subjects
Publications and source records attributed to E Czeizel.
The treatment of reducing sexual drive with antiandrogenic cyproterone acetate in a man with homosexual paedophilia is shown with the summary of rules for the use of cyproterone acetate in the therapy of sexual deviations.
The authors analyse the experiences of their Genetic Counseling Clinic between 1979-1992. They show the formation of the motives of presenting and consulting. They range the consultants in three etiological categories (genetical, teratological and clinical entities). The proportion of new consultants increased fourfold and this tendency documents unambiguously the claim of family planners for this very important medical service. The proportion of Mendelian disorders, mutagen risk and consanguinity are relatively continuous. Because of teratogen risk the rate of presenting decreased moderately. The proportion of consultants shows a definite increase of multifactorial frequent disorders, which they value as a favorable tendency. For decreasing of unjustified cases they suggest the necessity of pre-screening.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
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The risk of recurrent neural-tube defect was decreased in women who took folic acid or multivitamin containing folic acid during the periconceptional period. The extent to which such supplementation can reduce the first occurrence of defects is not known. A randomized, controlled trial of periconcepctional multivitamin supplementation to test the efficacy of this treatment in reducing the incidence of a first occurrence of neural-tube defects was conducted. Women planning a pregnancy (in most cases their first) were randomly assigned to receive a single tablet of a multivitamin supplement (containing 12 vitamins, including 0.8 mg of folic acid; 4 minerals; and 3 trace elements) or a trace-element supplement (containing copper, manganese, zinc, and a very low dose of vitamin C) daily for at least one month before conception and until the date of the second missed menstrual period or later. Pregnancy was confirmed in 5502 women. The outcomes of the informative offspring (whether the fetus or infant had a neural-tube defect or other congenital abnormality) was known in 2471 women who received the multivitamin supplement and in 2391 who received the trace-element supplement. There were six offspring of neural-tube defects in the group receiving the trace-element supplement, as compared with none in the multivitamin-supplement group (p = 0.0014). Congenital abnormalities were significantly more prevalent in the group receiving the trace-element supplement than in the multivitamin-supplement group (2.22 per 1009 vs 1.25 per 1009, p = 0.002).
Three affected members of a family with olivopontocerebellar atrophy IV (Schut-Haymaker type) of autosomal dominant inheritance are presented. The five types of olivopontocerebellar atrophy are differentiated on the basis of clinical symptoms and the mode of inheritance. Its clinical symptoms are varied but the cerebellar ataxia of different extent is present in every case which may be followed by pyramidal and extrapyramidal symptoms. Clear differentiation from the other types is based on the destruction of the nuclei of cranial cerebral nerves (IX, X, XII).
A sporadic and a familial case with multiple synostosis (symphalangism syndrome) are described with the demonstration of other symptoms (e.g. fusion of middle ear ossicles with conductive deafness). The differential-diagnosis of about 15 syndromes including symphalangism is discussed.
The principles of genetic counselling are summarized in a female with Wilson's disease. Pregnancy after appropriate treatment during gestation had a successful outcome: a healthy boy.
Authors report about a case of total lack of middle phalanxes on the 3d and 4th fingers and a hypoplasia of the surrounding phalanges on the left hand. This is the first report on this type of intercalary type in congenital limb deficiency group. They call attention to one of the so far not sufficiently emphasized hazard of previous periconceptional oral contraceptive use. If there is not enough time left for the total regeneration after the discontinuation of contraceptives, such kind of malformation may develop in the fetus due to the insufficiency of fetal-placental circulation.
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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.
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.