The contribution of genetic and environmental control to stress-related cardiovascular reactions ... more The contribution of genetic and environmental control to stress-related cardiovascular reactions was investigated in 10 monozygotic and 10 dizygotic twin pairs during mental arithmetics. Non-invasive indices reflecting vagal and sympathetic activity were used, namely: indices of myocardial contractility based on impedance cardiogram, and spectral components of heart period variance. Autoregressive algorithms were developed for heart period power spectral density estimation providing automatic decomposition of heart period spectra into individual spectral components. During the mental task spectral energy of the mid-frequency (central frequency approximately 0.1 Hz) and high frequency (around respiratory frequency) components of heart period variance significantly decreased indicating vagal withdrawal. A task-related increase of the mid-frequency component relative to the high-frequency component was obtained. This change in the ratio of the two components as well as the considerable shortening of the contractility indices are pointing to sympathetic activation. When comparing intraclass correlations computed separately for monozygotic and dizygotic twins highly significant correlations were found for the mid-frequency component in monozygotic but not in dizygotic twin pairs in resting condition indicating a substantial genetic contribution to the control mechanisms involved in the baroreflex. Contribution of genetic factors to the control of stress-related interplay of autonomic outflows has been shown.
The first complex etiological study of mental retardation in Budapest was carried out with 1,364 ... more The first complex etiological study of mental retardation in Budapest was carried out with 1,364 children ages 7 to 14 years. Of this sample, 1,060 attended special schools for mentally retarded children (47.5 percent), and 304 children lived in one of two residential training centers for moderately and severely retarded persons. Apart from the cases of unknown etiology (12.6 percent) and those who turned out to be "normal" (6.5 percent), approximately 50 percent of the index patients were classified as pathologically retarded, and the other 50 percent as familial--culturally retarded. Strictly genetic disorders (inborn errors of metabolism, malformation syndromes caused by single mutant genes, and autosome and sex chromosome abnormalities) accounted for 3.1, 4.0, 4.0, and 1.3 percent, respectively, of all cases. Pre-, peri-, and postnatal exogenic damage occurred in 1.8, 20.4, and 6.8 percent of the cases, respectively. Results were compared with findings from previous surveys in the United States and the United Kingdom.
Journal of Pediatric Gastroenterology and Nutrition, Dec 1, 1985
Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide ... more Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide (lactulose) was determined in 228 adult Hungarian twins, 60 monozygous (MZ) and 54 dizygous (DZ) pairs. More than 98% of the subjects (224 of 228) excreted large amounts of hydrogen between 90 and 180 min after lactulose administration. Methane excretion in the fasting state was observed in 124 of 228 of the probands (54.4%), and 68 of 228 (29.8%) produced additional methane in response to lactulose ingestion. In contrast to hydrogen production, both methane excretion and production were significantly more frequent in females than in males. In the total group, and more distinctly in females, the correlation between peak hydrogen and methane concentrations was negative. Twin concordance of fasting methane excretion and lactulose-induced methane production was near 70% in both MZ and DZ pairs. Heritability estimates of methane excretion and production based on intrapair correlation and variance were smaller than unity, and intrapair correlation coefficients were larger in twin pairs living apart than in those living in the same household. Methane excretion is comparatively frequent in the Hungarian population, and a substantial proportion of fasting methane excreters (55%) produce additional methane from lactulose. The sex difference of methane excretion appears to be characteristic of European populations. The twin data disprove regular Mendelian inheritance of methane production and are suggestive of genetic effects in a multifactorial system.
The mandatory notification of patients (&... more The mandatory notification of patients ("cases") with different congenital abnormalities (CAs) diagnosed from birth until the end of the first postnatal year by medical doctors was ordered by the Ministry of Health in Hungary in 1962 and this CA-registry was continued as the Hungarian Congenital Abnormality Registry (HCAR) based on the international recommendation from 1970. The primary objective of the HCAR has been to determine the baseline birth prevalence rate of different CAs as reliably as possible, with three secondary objectives: (i) to detect temporal and/or spatial clusters of CAs; (ii) to evaluate increasing or decreasing time trends of CAs; and (iii) to assist in the planning of medical and social services for children and families affected by CA so that appropriate resources are allocated efficiently and effectively. This paper summarizes the activities and the evolution of the HCAR over the past 50 years (1962-2011) including the Hungarian Case-Control Surveillance of Congenital Abnormalities for postmarketing surveillance of drug teratogenicity and prevention of CAs; the special evaluation of unidentified multiple CAs; the Hungarian Surveillance of Germinal Mutations and several international collaborations. In conclusion, Hungary enjoyed optimal conditions for the HCAR due to a centralized state health system; all deliveries took place in inpatient clinics; the quality of pediatric care was high and pediatricians notified most CAs. Autopsy was mandatory in infant death, the staff of the HCAR did not consider this CA-registry only as a statistical system but the Hungarian Center for Congenital Anomaly Control and the Hungarian Case-Control Surveillance of Congenital Abnormalities based on the HCAR worked with close collaboration with the parents in order to promote the possible good quality of life of their affected children and to prevent their risk of recurrence.
Archives of Gynecology and Obstetrics, Jul 1, 1994
The effect of periconceptional multivitamin/trace element supplementation on pregnancy outcomes w... more The effect of periconceptional multivitamin/trace element supplementation on pregnancy outcomes was evaluated in a randomised controlled trial. The final data-base included 5,502 females with confirmed pregnancy. A multivitamin including 0.8 mg folic acid or a trace element were supplemented for at least 28 days before conception and continuing for at least until the second missed menstrual period. Number of pregnancies, terminations of pregnancies, four types of fetal deaths, livebirths including low birth weight, preterm birth and sex ratio were analysed. Periconceptional multivitamin supplementation increased fertility (higher rates of cumulative conceptions and multiple births), had no significant effect on the rate of different groups of fetal deaths, low birth weight and preterm birth in singletons. This primary preventive method can reduce the occurrence and recurrence of neural-tube defects and had no other significant effect on pregnancy outcomes except multiple births.
Acta geneticae medicae et gemellologiae: twin research, 1979
The Budapest Twin Register recorded 88.6% of the 1739 multiple births that occurred between 1970 ... more The Budapest Twin Register recorded 88.6% of the 1739 multiple births that occurred between 1970 and 1974. Of these, 31.2% were male-female pairs. Based on the examination of the placenta (19.8% monochorial) and of genetic markers, 406 pairs proved to be monozygotic and 645 dizygotic. Sex ratio of twins at birth showed a female preponderance (1000 F: 1009 M) in comparison to singletons (1000 F: 1071 M). Average birth weight of the twins was 2101 g. The frequency of stillbirths was about four times higher in twins than in singletons, twice as high in monozygotic than in dizygotic twins, and 2.4 times higher among second than first-born twins.
We are sad to announce the passing of Andrew E. Czeizel on August 10, 2015, at the age of 80, aft... more We are sad to announce the passing of Andrew E. Czeizel on August 10, 2015, at the age of 80, after a long-lasting illness.
Of 1038 index patients with multiple congenital abnormalities, 34 were twins. This 3.3 per cent i... more 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.
When twin births were compared with controls no significant difference was found between them eit... more When twin births were compared with controls no significant difference was found between them either with respect to the mother having previously taken oral contraceptives (OCs) or with respect to the time interval between the date of conception and the time when contraceptives were discontinued. But for a month after discontinuation of the norethynodrel contraceptive Infecundin twin pregnancies were significantly more frequent than after discontinuation of the ethynodiol containing Bisecurin.
The contribution of genetic and environmental control to stress-related cardiovascular reactions ... more The contribution of genetic and environmental control to stress-related cardiovascular reactions was investigated in 10 monozygotic and 10 dizygotic twin pairs during mental arithmetics. Non-invasive indices reflecting vagal and sympathetic activity were used, namely: indices of myocardial contractility based on impedance cardiogram, and spectral components of heart period variance. Autoregressive algorithms were developed for heart period power spectral density estimation providing automatic decomposition of heart period spectra into individual spectral components. During the mental task spectral energy of the mid-frequency (central frequency approximately 0.1 Hz) and high frequency (around respiratory frequency) components of heart period variance significantly decreased indicating vagal withdrawal. A task-related increase of the mid-frequency component relative to the high-frequency component was obtained. This change in the ratio of the two components as well as the considerable shortening of the contractility indices are pointing to sympathetic activation. When comparing intraclass correlations computed separately for monozygotic and dizygotic twins highly significant correlations were found for the mid-frequency component in monozygotic but not in dizygotic twin pairs in resting condition indicating a substantial genetic contribution to the control mechanisms involved in the baroreflex. Contribution of genetic factors to the control of stress-related interplay of autonomic outflows has been shown.
The first complex etiological study of mental retardation in Budapest was carried out with 1,364 ... more The first complex etiological study of mental retardation in Budapest was carried out with 1,364 children ages 7 to 14 years. Of this sample, 1,060 attended special schools for mentally retarded children (47.5 percent), and 304 children lived in one of two residential training centers for moderately and severely retarded persons. Apart from the cases of unknown etiology (12.6 percent) and those who turned out to be "normal" (6.5 percent), approximately 50 percent of the index patients were classified as pathologically retarded, and the other 50 percent as familial--culturally retarded. Strictly genetic disorders (inborn errors of metabolism, malformation syndromes caused by single mutant genes, and autosome and sex chromosome abnormalities) accounted for 3.1, 4.0, 4.0, and 1.3 percent, respectively, of all cases. Pre-, peri-, and postnatal exogenic damage occurred in 1.8, 20.4, and 6.8 percent of the cases, respectively. Results were compared with findings from previous surveys in the United States and the United Kingdom.
Journal of Pediatric Gastroenterology and Nutrition, Dec 1, 1985
Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide ... more Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide (lactulose) was determined in 228 adult Hungarian twins, 60 monozygous (MZ) and 54 dizygous (DZ) pairs. More than 98% of the subjects (224 of 228) excreted large amounts of hydrogen between 90 and 180 min after lactulose administration. Methane excretion in the fasting state was observed in 124 of 228 of the probands (54.4%), and 68 of 228 (29.8%) produced additional methane in response to lactulose ingestion. In contrast to hydrogen production, both methane excretion and production were significantly more frequent in females than in males. In the total group, and more distinctly in females, the correlation between peak hydrogen and methane concentrations was negative. Twin concordance of fasting methane excretion and lactulose-induced methane production was near 70% in both MZ and DZ pairs. Heritability estimates of methane excretion and production based on intrapair correlation and variance were smaller than unity, and intrapair correlation coefficients were larger in twin pairs living apart than in those living in the same household. Methane excretion is comparatively frequent in the Hungarian population, and a substantial proportion of fasting methane excreters (55%) produce additional methane from lactulose. The sex difference of methane excretion appears to be characteristic of European populations. The twin data disprove regular Mendelian inheritance of methane production and are suggestive of genetic effects in a multifactorial system.
The mandatory notification of patients (&... more The mandatory notification of patients ("cases") with different congenital abnormalities (CAs) diagnosed from birth until the end of the first postnatal year by medical doctors was ordered by the Ministry of Health in Hungary in 1962 and this CA-registry was continued as the Hungarian Congenital Abnormality Registry (HCAR) based on the international recommendation from 1970. The primary objective of the HCAR has been to determine the baseline birth prevalence rate of different CAs as reliably as possible, with three secondary objectives: (i) to detect temporal and/or spatial clusters of CAs; (ii) to evaluate increasing or decreasing time trends of CAs; and (iii) to assist in the planning of medical and social services for children and families affected by CA so that appropriate resources are allocated efficiently and effectively. This paper summarizes the activities and the evolution of the HCAR over the past 50 years (1962-2011) including the Hungarian Case-Control Surveillance of Congenital Abnormalities for postmarketing surveillance of drug teratogenicity and prevention of CAs; the special evaluation of unidentified multiple CAs; the Hungarian Surveillance of Germinal Mutations and several international collaborations. In conclusion, Hungary enjoyed optimal conditions for the HCAR due to a centralized state health system; all deliveries took place in inpatient clinics; the quality of pediatric care was high and pediatricians notified most CAs. Autopsy was mandatory in infant death, the staff of the HCAR did not consider this CA-registry only as a statistical system but the Hungarian Center for Congenital Anomaly Control and the Hungarian Case-Control Surveillance of Congenital Abnormalities based on the HCAR worked with close collaboration with the parents in order to promote the possible good quality of life of their affected children and to prevent their risk of recurrence.
Archives of Gynecology and Obstetrics, Jul 1, 1994
The effect of periconceptional multivitamin/trace element supplementation on pregnancy outcomes w... more The effect of periconceptional multivitamin/trace element supplementation on pregnancy outcomes was evaluated in a randomised controlled trial. The final data-base included 5,502 females with confirmed pregnancy. A multivitamin including 0.8 mg folic acid or a trace element were supplemented for at least 28 days before conception and continuing for at least until the second missed menstrual period. Number of pregnancies, terminations of pregnancies, four types of fetal deaths, livebirths including low birth weight, preterm birth and sex ratio were analysed. Periconceptional multivitamin supplementation increased fertility (higher rates of cumulative conceptions and multiple births), had no significant effect on the rate of different groups of fetal deaths, low birth weight and preterm birth in singletons. This primary preventive method can reduce the occurrence and recurrence of neural-tube defects and had no other significant effect on pregnancy outcomes except multiple births.
Acta geneticae medicae et gemellologiae: twin research, 1979
The Budapest Twin Register recorded 88.6% of the 1739 multiple births that occurred between 1970 ... more The Budapest Twin Register recorded 88.6% of the 1739 multiple births that occurred between 1970 and 1974. Of these, 31.2% were male-female pairs. Based on the examination of the placenta (19.8% monochorial) and of genetic markers, 406 pairs proved to be monozygotic and 645 dizygotic. Sex ratio of twins at birth showed a female preponderance (1000 F: 1009 M) in comparison to singletons (1000 F: 1071 M). Average birth weight of the twins was 2101 g. The frequency of stillbirths was about four times higher in twins than in singletons, twice as high in monozygotic than in dizygotic twins, and 2.4 times higher among second than first-born twins.
We are sad to announce the passing of Andrew E. Czeizel on August 10, 2015, at the age of 80, aft... more We are sad to announce the passing of Andrew E. Czeizel on August 10, 2015, at the age of 80, after a long-lasting illness.
Of 1038 index patients with multiple congenital abnormalities, 34 were twins. This 3.3 per cent i... more 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.
When twin births were compared with controls no significant difference was found between them eit... more When twin births were compared with controls no significant difference was found between them either with respect to the mother having previously taken oral contraceptives (OCs) or with respect to the time interval between the date of conception and the time when contraceptives were discontinued. But for a month after discontinuation of the norethynodrel contraceptive Infecundin twin pregnancies were significantly more frequent than after discontinuation of the ethynodiol containing Bisecurin.
Dum la tuta homa historio la apero de kunkreskintaj (aŭ "siamaj") ĝemeloj elvokis miron kaj nekom... more Dum la tuta homa historio la apero de kunkreskintaj (aŭ "siamaj") ĝemeloj elvokis miron kaj nekomprenon. Tiuj diversgrade disiĝintaj, sed unukorpe, kungluiĝinte (aŭ ne komplete disiĝinte) naskiĝintaj personoj havas plej diversajn vivoŝancojn, kiujn influas ankaŭ la eventuala ekzisto ĉe ili de alia malformiĝo denaska.
Prezentado de kazoj de kunkreskintaj ĝemeloj pere de ekzemploj el scienca esplorlaboro farita en Hungario pri genetikaj anomalioj kaj kunkreskintaj ĝemeloj.
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Papers by Julia Metneki
Prezentado de kazoj de kunkreskintaj ĝemeloj pere de ekzemploj el scienca esplorlaboro farita en Hungario pri genetikaj anomalioj kaj kunkreskintaj ĝemeloj.