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Biomedical subjects

E Czeizel

Publications and source records attributed to E Czeizel.

At least 19 recordsLinked to original sources
PubMed2001

[Prevalence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) in the Hungarian population].

MTHFR encodes a critical enzyme in folate and homocysteine metabolism and the C677T allele of the MTHFR gene has some association with an increased risk for neural-tube defects and for adult cardiovascular diseases. As part of an international collaborative study the prevalence of C677T homozygous genotype was 11.1% while the frequency of C677T heterozygous condition was 45.2% in the Hungarian neonate sample. These findings underscore the clinical importance of the C677T variant in the Hungarian population and urge population-based prevention of conditions related to such gene.

Alleles↗
PubMed1998

[The role of hyper-homocysteinemia in the etiology of some vascular diseases].

About 5% of population have a highly, while other 15% a moderately elevated plasma homocysteine level. Hyperhomocysteinemia may be responsible about 10-20% of coronary artery, 40% of cerebrovascular and 60% of peripheral vascular diseases. There in an inverse relationship between folate, cobalamin and pyridoxine intake or blood level and plasma homocysteine level. In addition, the intake of these three B vitamins can reduce high plasma homocysteine level. Folate-folic acid seems to be the most important in homocysteine reduction due to the compensation of thermolabile methylenetetrahydrofolate reductase insufficiency, however, a milder impact of cobalamin any pyridoxine (mainly following a methionine load test) is also proved. There are possibilities to reduce risk associated with elevated homocysteine: e. g. dietary supplementation or food fortification. In Hungary bread enriched by folic acid, cobalamin and pyriodixine might reduce rate of vascular diseases due to hyperhomocysteinemia.

Cerebrovascular Disorders↗
PubMed1998

[Incidence of familial defective apolipoprotein B-100 in cases of patients diagnosed with familial hypercholesterolemia].

Familial Hypercholesterolemia (FH) and Familial Defective Apolipoprotein B-100 (FDB) are monogenic, autosome, dominantly inherited diseases appearing as type II/a primary hypercholesterolemia. The frequency of the heterozygositic forms is 1:700-1:500 in European population. Both forms of hypercholesterolemia causes early onset coronary heart diseases (CHD). According to the recommendations of the international MED-PED program (Make Early Diagnoses--Prevent Early Death), we found 73 FH cases and their 377 first relatives (parents, siblings, children) were also assessed. 156 patients were diagnosed clinically FH (131 alive and 25 deceased), and 31.8% of the males and 32.4% of females suffered from early onset CHD. One family with FH consists of 5.46 members on the average and there are 2.39 FH patients in one family. In our FH cohort four patients with FDB (R3500Q mutation) were diagnosed with allelspecific PCR, and the mutation was detectable also in 9 cases out of 11 living family members. The plasma total cholesterol level of the FDB patients--especially at younger age--was very close to the normal values, which is in contrast to the findings in FH patients. Nevertheless, FDB can be one of the independent causes of the early onset CHD. Therefore, in families with high frequency of cardiovascular diseases the R3500Q mutation has to be considered.

Adult↗
PubMed1997

[Therapeutic importance of the diagnosis of Kallmann syndrome].

Hyposmia with hypogonadotropic hypogonadism was diagnosed as Kallmann syndrome in a 24 years old dizygotic female twin. This syndrome indicates the importance of smell in the sexual development through the progenitor cells in the olfactory placode because luteinizing-hormone-releasing hormone (LHRH) secreting cells of hypothalamus arise from these cells. In addition, substitution therapy may be successful in the treatment of the lack of secondary sex traits and primary amenorrhoea as the presented case demonstrated.

Adult↗
PubMed1997

[Timing of attempted suicide by drug poisoning during pregnancy and pregnancy outcome].

Suicide attempts by drug ingestion during pregnancy provides an opportunity to study the teratogenicity of large doses of drugs in human beings. Data of a population-based prospective study of all pregnant women admitted to the toxicological inpatient hospital in Budapest which is responsible for the health provision of chemical poisoned persons from a 3 million study population. Of 22,969 self-poisoned women, 645 were pregnant and 559 attempted suicide by drug ingestion during pregnancy during the study period (1985-1993). Two died. The peak of suicide attempts was found in the first month of fetal development, and its great majority resulted in a very early fetal death, the so-called chemical pregnancy. Thus 61% of suicide attempts occurred before the third month. Later pregnancies had a protective effect against suicide parallel with advanced months of fetal development.

Adult↗
PubMed1997

[Prenatal genetic diagnosis of type I autosomal dominant polycystic kidney disease].

Probanda affected with autosomal dominant polycystic kidney disease (ADPKD) had a molecular genetic analysis which indicated the type I. Of the three pregnancies in the probanda, first two had mutant gene carrier fetuses and these pregnancies were terminated. The fetus of the third pregnancy had no mutant gene and this pregnancy ended in the birth of a healthy boy. The principles of genetic counselling and antenatal care are summarised in ADPKD type I.

Female↗
PubMed1997

[The importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling].

The female consultant had two mentally retarded boys from her two marriages. The clinical symptoms and Fra-X chromosomes indicated their Martin-Bell disease. The daughter of the consultant is healthy and Fra-X negative. She is pregnant and insisted on her molecular genetic diagnosis due to an international collaboration. Both affected brothers had FRAXA genes with a full mutation including more than 200 CGG methylated repeats. The consultant female was in the phase of premutation, however, her healthy daughter had two normal 50% methylated genes with 19 and 26 CGG repeats. Thus there is no recurrence risk for Martin-Bell disease in her fetus.

Adult↗
PubMed1996

[Euphenic prevention of obesity at the Optimal Family Planning Service in Hungary].

The body weight and height are measured and body mass index (BMI) is calculated in the female and male participants of the Hungarian Optimal Family Planning Service (which is a periconceptional care). Of 1133 female participants, 28 (2.5%) and 91 (8.0%) were obese [> 30 kg/(m)2 BMI] or had overweight [25-29.9 kg/(m)2 BMI]. Of 1125 male participants, 63 (5.6%) and 255 (22.7%) were obese or overweighted. These prospective parents were informed about the recurrence risk of obesity, triggering and suppressive protective factors for genetic predisposition and they were educated how they could reduce the recurrence of obesity in their planned children.

Adolescent↗
PubMed1996

[Peri-conceptional multivitamin administration may result in higher frequency of twin pregnancies].

A randomized controlled trial of periconceptional multivitamin supplementation including 0.8 mg folic acid was carried out for at least 28 days before conception. The trial was continued until at least until the second missed menstrual period to test the effectiveness of this new primary preventive method in the reduction of neural tube defects. However, other pregnancy outcomes were also evaluated. Of total of 5,502 pregnant women, 4,846 births were analysed in the final data base. The rate of multiple births was significantly higher in the multivitamin group (3.8%) than in the placebo-like trace-element control group (2.7%), and in both groups exceeded the multiple birth rate of 2.2% of women in the Hungarian population at large. 7.3% of women in the multivitamin and 7.9% of women in the trace-element groups received ovarian stimulation treatment (mainly clomiphen) for hormonal dysfunctions, e.g. anovulation. Nonetheless, our study showed that periconceptional multivitamin supplementation, with or without stimulation, increases the rate of multiple births.

Double-Blind Method↗
PubMed1996

[Sexual activity of infertile couples].

Sexual activity, i.e., the weekly number of sexual intercourses was measured on the basis of data obtained through a separate personal interview of males and females in the study group of infertile couples and as in the control group of couples who just decided to have a baby. The sexual activity of infertile couples was higher (just by 1) in a comparison with the figure of control couples and this difference was significant in all age groups. This phenomenon was explained mainly by the higher sexual activity of infertile males. Thus, the sexual activity of males with very low sperm count (< 5 million/ml) was higher than that of males with normozoospermia in the infertile study group. There was a small group (about 6%) with sexual hyperactivity (> or = 7 sexual intercourses per week) in the infertile group.

Adolescent↗
PubMed1996

[Genetic counseling in a case of Takayasu arteritis].

Two cases affected with Takayashu arteritis are presented. The adult probanda born in 1960 after genetic counselling and appropriate prenatal care had a healthy liveborn boy. Her previous six pregnancies were terminated on the basis of forced medical reason. The infant probanda died at the age of 4 months with the features of sudden infant death syndrome (SIDS). Pathohistological examination detected her Takayashu arteritis. It seems to be the youngest published case in the international literature and Takayashu arteritis may be the rare cause of SIDS.

Adult↗
PubMed1996

[Six cases of basal cell nevus carcinoma in three families].

Six cases of three families had basal cell nevus cacinoma syndrome of autosomal dominant inheritance. Five characteristics of this genetic disease are stressed: (1) 40% of cases had sporadic occurrence due to de novo mutations; (2) there are three phases in the manifestation of the disease: congenital abnormalities diagnosed after birth; nevoid phase during childhood with increase at adolescence; oncogen phase after the second decade; (3) symptoms have a variability and age-dependency, (4) this mutant gene can cause both congenital abnormalities and tumours; (5) these patients are very sensitive for environmental mutagens thus it is necessary to limit or to exclude UV and X-rays, cytostatic and immunosuppressive drug treatments.

Adult↗
PubMed1996

[Cholesterol levels in young men and women planning conception].

The purpose of this study is to incorporate the primary prevention of coronary heart disease into a periconception care. Among others total cholesterol was determined in 2610 female and 2307 male participants. The mean (+/- S.D.) of total cholesterol was 4.93 +/- 1.04 in females and 5.20 +/- 1.24 mmol/l in males. Only 7.9% of females and 4.7% of males had previous knowledge about their high total cholesterol. Three month later 1.08 mmol/l (16%) and 1.18 mmol/l (18%) reduction was found in total cholesterol of participants with > 6.5 mmol/l due to education programme including change in diet, to stop smoking, etc.

Adult↗