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1.

001-es BibID:BIBFORM067095
Első szerző:Beke Artúr (szülész-nőgyógyász)
Cím:Korai petefészek-kimerülés (POF/POI) és a FRAXA betegség kapcsolatának vizsgálata az FMR1 gén CGG trinukleotid ismétlődés számának meghatározásával / Beke Artúr, Pikó Henriett, Garamvölgyi Zoltán, Karcagi Veronika, Nyírő Gábor, Nagy Bálint, Molnár Mária Judit, Rigó János Jr.
Dátum:2012
Tárgyszavak:Orvostudományok Klinikai orvostudományok magyar nyelvű folyóiratközlemény hazai lapban
FMR1
FRAXA
korai petefészek kimerülés
CGG triplet
Megjelenés:Magyar Nőorvosok Lapja 75 : 3 (2012), p. 8-12. -
További szerzők:Pikó Henriett (molekuláris biológus) Garamvölgyi Zoltán (szülész-nőgyógyász) Karcagi Veronika (molekuláris biológus) Nyírő Gábor (molekuláris biológus) Nagy Bálint (1956-) (molekuláris genetikus) Molnár Mária Judit (1962-) (neurológus) Rigó János (1958-) (szülész-nőgyógyász)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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2.

001-es BibID:BIBFORM065314
Első szerző:Lázár Levente (szülész-nőgyógyász)
Cím:Noninvazív magzati Rh-meghatározás real-time PCR-módszerrel / Lázár Levente, Nagy Bálint, Bán Zoltán, Nagy Gyula Richárd, Beke Artúr, Papp Zoltán
Dátum:2007
ISSN:0030-6002 1788-6120
Megjegyzések:INTRODUCTION:In the last ten years the detection of fetal origin cells and cell free fetal DNA in maternal circulation opened new horizons in non-invasive prenatal diagnosis. The diagnostic possibilities are based on the differences between the maternal and fetal origin DNA. One of the differences could be the Rh blood group and the genetical background. The Rh incompatibility is the most frequent blood group incompatibilities in the clinical practice, which can cause fetal anemia, hydrops and even fetal death.AIMS:The aim of this study was to detect the fetal DNA in maternal circulation, to determine the Rh status of the fetus, and to compare the reliability of the method with the data found in other studies.METHODS:Blood samples and amnionic fluid samples were collected from 30 pregnant women, with Rh negative status, between 11-22 week of gestation presented for genetic amniocentesis at the 1st. Department of Obstetrics and Gynecology, Semmelweis University. After DNA isolation real-time PCR was performed in order to detect the exon 7 of the RhD gene located on the first chromosome (1p36.11.).RESULTS:In 24 cases the PCR reaction gave same result in case of the DNA isolated from plasma and amniotic fluid, but in six cases there was no PCR product of plasma samples and the product was detectable in amniotic fluid samples. The exon 7 was detectable in 25 cases, and there was no product in 5 cases.CONCLUSIONS:The real-time PCR method seems to be an easy and reliable method to determine the fetal Rh blood group. The sensitivity and specificity of the method in this study is in concordance with international data. The use of more than one probe could increase the sensitivity of the method.
Tárgyszavak:Orvostudományok Klinikai orvostudományok magyar nyelvű folyóiratközlemény hazai lapban
nem-invazív
kimutatás
RhD
PCR
real-time
Megjelenés:Orvosi Hetilap. - 148 : 11 (2007), p. 497-500. -
További szerzők:Nagy Bálint (1956-) (molekuláris genetikus) Bán Zoltán (nőgyógyász) Nagy Gyula Richárd (szülész-nőgyógyász) Beke Artúr (szülész-nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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DOI
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3.

001-es BibID:BIBFORM065209
Első szerző:Magyar Zsófia
Cím:Expression of VEGF in Neonatal Urinary Obstruction : does Expression of VEGF Predict Hydronephrosis? / Zsófia Magyar, Julianna Schönleber, Miklós Romics, Ervin Hruby, Bálint Nagy, Bálint Sulya F., Artúr Beke, Ágnes Harmath, Judit Jeager, János Rigó jr., Éva Görbe
Dátum:2015
ISSN:1234-1010
Megjegyzések:In animal studies, the inhibition of VEGF activity results in high mortality and impaired renal and glomerular development. Mechanical stimuli, like mechanical stretch in respiratory and circulatory systems, results in an elevated expression of VEGF. In animal models, the experimental urinary obstruction is associated with stretching of tubular cells and activations of the renin-angiotensin system. This results in the upregulation of vascular endothelial growth factor (VEGF) and TNF-alfa.Material/Methods:Tissue samples from urinary tract obstruction were collected and immunohistochemistry was performed in 14 patients (average age: 7.1?4.1 years). The control histology group consisted of ureteropelvic junction tissue from 10 fetuses after midtrimester artificial abortion. The fetuses did not have any failure at ultrasound screening and pathological examination. The mean gestational age was 20.6 weeks of gestation (?2.2SD). Expression of VEGF was detected with immunohistochemistry method.Results:Expression of VEGF was found in varying intensity in the submucosa and subserosa layers, but only in the test tissue (placental tissue). The tissue of the patients with urinary obstruction and the tissue of the fetal ureteropelvic junction without urinary obstruction were negative for expression of VEGF. The repeated examination showed negative cells and no color staining.Conclusions:The pressure due to congenital urogenital obstruction resulting in mechanical stress in cells did not increase the expression of VEGF in young children in our study. To find a correlation between urogenital tract obstruction and increased expression of VEGF, we need to perform more examinations because the connection may be of therapeutic significance.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
endothelial growth factor
urinary tract
Hydronephros
Megjelenés:Medical Science Monitor 21 (2015), p. 1319-1323. -
További szerzők:Schönléber J. Romics Miklós Hruby Ervin Nagy Bálint (1956-) (molekuláris genetikus) Sulya Bálint F. Beke Artúr (szülész-nőgyógyász) Harmath Ágnes Jeager Judit Rigó János (1958-) (szülész-nőgyógyász) Görbe Éva
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4.

001-es BibID:BIBFORM074849
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Detection of Toxoplasma gondii from amniotic fluid, a comparison of four different molecular biological methods / Bálint Nagy, Zoltán Bán, Artúr Beke, Gyula Richard Nagy, Levente Lázár, Csaba Papp, Ernő Tóth-Pál, Zoltán Papp
Dátum:2006
ISSN:0009-8981
Megjegyzések:BACKGROUND:The infection caused by the parasite Toxoplasma gondii (T. gondii) is often asymptomatic or has mild symptoms. The infection can cause serious problems in pregnant women who acquire the infection during gestation and their fetuses are congenitally infected.METHODS:We tested 64 amniotic fluid samples for the presence of T. gondii by using fluorescent PCR and DNA fragment analysis. Later we compared four different molecular biological methods for the detection of the presence of T. gondii on same frozen DNA samples. These methods are the conventional PCR, fluorescent PCR with DNA fragment analysis, quantitative real-time PCR with SYBRGreen I and with fluorescence energy transfer hybridization probe detection. We determined the detection limit of these methods.RESULTS:The conventional PCR and quantitative real-time PCR with SYBRGreen I detection have the detection limit of 1000 parasites, followed by fluorescent PCR with the detection limit of 10-100 parasites. The real-time PCR using fluorescence energy transfer hybridization probes can detect one parasite. This is the most sensitive and the fastest method. We detected 5 T. gondii positive samples with all methods from the studied 64 amniotic fluids.CONCLUSIONS:All studied molecular biological methods are suitable for the detection of congenital toxoplasmosis. The quantitative real-time PCR based methods are more sensitive, simple and easy to perform these are opening the avenue to find out the effect of the number of parasites on fetal abnormalities.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Toxoplasma gondii
amniotic fluid
molecular biology
Megjelenés:Clinica Chimica Acta. - 368 : 1-2 (2006), p. 131-137. -
További szerzők:Bán Zoltán (nőgyógyász) Beke Artúr (szülész-nőgyógyász) Nagy Gyula Richárd (szülész-nőgyógyász) Lázár Levente (szülész-nőgyógyász) Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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5.

001-es BibID:BIBFORM074861
Első szerző:Rigó János (szülész-nőgyógyász)
Cím:Maternal and neonatal outcome of preeclamptic pregnancies : the potential roles of factor V Leiden mutation and 5,10 methylenetetrahydrofolate reductase / Rigó J. Jr, Nagy B., Fintor L., Tanyi J., Beke A., Karádi I., Papp Z.
Dátum:2000
ISSN:1064-1955
Megjegyzések:OBJECTIVE:To investigate the potential perinatal effects of Factor V Leiden mutation and 5,10 methylenetetrahydrofolate reductase C677T polymorphism in preeclamptic women.STUDY DESIGN:One hundred twenty preeclamptic women (N = 120) and 101 healthy pregnant controls (N = 101) were recruited and evaluated for frequency of Leiden and 5,10 methylenetetrahydrofolate reductase (MTHFR) mutations using polymerase chain reaction (PCR). Perinatal outcomes were then recorded and analyzed for all study participants and their neonates.RESULTS:Laboratory analysis yielded 22 (18.33%) heterozygous carriers of Factor V Leiden mutation among preeclamptic women and 3 (2.97%) heterozygous carriers among the healthy controls; differences between the two groups were found to be statistically significant [p < 0.001, the relative risk (RR) = 6.17, 95% confidence interval (95% CI) = 1.90-20.02]. Homozygous MTHFR mutations were found in 8 of 120 (6.67%) preeclamptic women and in 6 of the 101 (5.94%) healthy controls evaluated. Among preeclamptic women, episodes of hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome were reported in 7 of 22 (31.81%) of those with Factor V Leiden mutation and in 11 of 98 (11.22%) of those who were negative for the mutation. Group differences were determined to be statistically significant (p < 0.015, RR = 2.83, 95% CI = 1.24-6. 48). Perinatal indicators collected from the two groups included frequency of intrauterine growth retardation, birth weight, and gestational age. No statistically different perinatal outcomes were found between Factor V Leiden positive and negative preeclamptic women. In addition, MTHFR gene polymorphism did not appear to be correlated with the development of preeclampsia.CONCLUSION:Although the frequency of Factor V Leiden mutation appears to be significantly higher among preeclamptic women, the mechanism of pathogenesis and potential influence on perinatal outcomes is not yet well understood. Relatively high rates of HELLP syndrome among those with Factor V Leiden mutation suggest that this thrombogene mutation may play a significant role in hemostatic system activation. Our results suggest that the role of MTHFR polymorphism and other factors such as folic acid supplementation will require more extensive analysis in controlling worldwide morbidity and mortality associated with this important maternal condition.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Leiden mutation
MTHFR
preeclampsia
Megjelenés:Hypertension In Pregnancy. - 19 : 2 (2000), p. 163-172. -
További szerzők:Nagy Bálint (1956-) (molekuláris genetikus) Fintor, Lou Tanyi János Beke Artúr (szülész-nőgyógyász) Karádi István (1952-) (belgyógyász, kardiológus) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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6.

001-es BibID:BIBFORM074855
Cím:Pre- and perinatal relations of hemophilia A and B / Artúr Beke, Zoltán Bán, Bálint Nagy, Ernő Tóth-Pál, Csaba Papp, Ákos Csaba, Zoltán Papp
Dátum:2003
ISSN:1015-3837
Megjegyzések:OBJECTIVE:The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period.METHODS:In cases with a heterozygous mother, fetal sex was determined. In 23 of 35 cases with male fetuses, a DNA examination was performed. In cases with hemophilic male fetuses, the couple made a decision on whether or not to continue the pregnancy after thorough counselling regarding genetic risk. Hemophilia A occurred 135 pregnancies (98 pregnancies from 55 heterozygous mothers and 37 pregnancies from 20 hemophilic fathers). Hemophilia B occurred in 14 pregnancies (9 pregnancies from 3 heterozygous mothers and 5 pregnancies from 4 hemophilic fathers).RESULTS:In pregnant women who were carriers of hemophilia A, 32 of the fetuses were male, and DNA examinations were performed in 22 cases. In 16 cases abortions were induced (in 10 cases hemophilia was confirmed by DNA examination), and in 4 of 16 deliveries affected males were born (the disease was confirmed by DNA examination during pregnancy). Of 3 confirmed male fetuses of heterozygous women with hemophilia B, 1 healthy male was born. In 2 cases abortions were induced (in 1 case on the basis of DNA diagnosis).CONCLUSIONS:In cases of heterozygous mothers (hemophilia A and B together) the rate of spontaneous abortions was 13.1%. The rates of premature deliveries (8.2%) and cesarean sections (8.2%) were no higher than national average. The rate of bleeding complications during pregnancy was 18.7%, in 2.7% of cases transfusions were necessary. In case of hemophilic fathers (in heterozygous female fetuses the hemostasis may change from the fetal side) the rate of bleeding complications during pregnancy was 18.2%. In terms of deliveries, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, curettage after delivery in 4.1%, and transfusion in 10.2% of the heterozygous mothers with hemophilia A and B combined. Neonatal complications were cerebral hemorrhage in 1 case and bleeding from the umbilical stump in another case (both newborns were hemophilic males). In connection with delivery, there was no sign of hematoma development on the skull of the newborns, nor were transfusions necessary. In cases of paternal disease the rate of curettage was 6.7% and there were no neonatal or other obstetrical complications.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
haemophilia a and b
prenatal
perinatal
Megjelenés:Fetal Diagnosis and Therapy. - 18 : 1 (2003), p. 17-25. -
További szerzők:Beke Artúr (szülész-nőgyógyász) Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Tóth-Pál Ernő (nőgyógyász) Papp Csaba (szülész-nőgyógyász) Csaba Ákos (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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7.

001-es BibID:BIBFORM074856
Cím:Recurrent trisomy 21 and uniparental disomy 21 in a family / Zoltán Bán, Bálint Nagy, Csaba Papp, Artúr Beke, Ernő Tóth-Pál, Zoltán Papp
Dátum:2003
ISSN:1015-3837
Megjegyzések:OBJECTIVE:A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus.METHODS:Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21.RESULTS:Both parents had a normal blood karyotype. Microsatellite marker analysis showed maternal origin of the fetal extra chromosome 21. As the mother showed homozygosity for all investigated markers on chromosome 21, we also tested her family. We detected the same homozygosity in some family members which was consistent with isodisomy of the chromosome 21 caused by uniparental disomy (UPD).CONCLUSIONS:Here we report on a family in which multiple aneuploid conceptions occurred with trisomy 21, and molecular analysis showed that the euploidy of the investigated healthy family members is due to UPD21. This observation stresses the importance of prenatal cytogenetic and molecular analysis in case of parental UPD.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Trisomy 21
uniparental disomy
Megjelenés:Fetal Diagnosis and Therapy. - 18 : 6 (2003), p. 454-458. -
További szerzők:Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Beke Artúr (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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