Találati lista | Tudóstér

001-es BibID:	BIBFORM065221
Első szerző:	Nagy Gyula Richárd (szülész-nőgyógyász)
Cím:	Lower risk for Down syndrome associated with longer oral contraceptive use : a case-control study of women of advanced maternal age presenting for prenatal diagnosis / Gyula Richárd Nagy, Balázs Győrffy, Bálint Nagy, János Rigó Jr.
Dátum:	2013
ISSN:	0010-7824
Megjegyzések:	Maternal trisomy 21 ovarian mosaicism might provide the major causative factor for fetal Down syndrome. The small proportion of trisomy 21 oocytes thought to be retarded in their maturation in comparison to normal disomic ones, and the maternal age effect can be based on an accumulation of trisomy 21 oocytes in the ovarian reserve. By lowering the number of unnecessary ovulations, a greater portion of disomic oocytes might be saved.Study designBetween September 2009 and September 2011, we performed genetic amniocentesis for fetal chromosomal analysis in 5222 pregnancies. We detected 119 structural or numerical chromosomal abnormalities. We collected data from 37 cases who were in advanced maternal age and where fetal trisomy 21, 18 or 13 was confirmed. We had 92 control patients. Detailed information was taken from those factors that influence the number of ovulations in reproductive life.ResultsFrom the factors checked, patients with a trisomic fetus had a shorter overall mean length of oral contraceptive pill use before the trisomic pregnancy (3.4 vs. 6.0 years, p<.0014), and the estimated number of mean ovulations was higher (274.6 vs. 224, p<.0003).ConclusionWe found that a history of longer oral contraceptive pill use and fewer ovulatory cycles were associated with fewer common trisomies of the fetus. Additional research is needed to rule out potential confounding factors, but our results are consistent with the maternal ovarian mosaicism causal model.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Down syndrome risk oral contraceptive
Megjelenés:	Contraception 87 : 4 (2013), p. 455-458. -
További szerzők:	Győrffy Balázs Nagy Bálint (1956-) (molekuláris genetikus) Rigó János (1958-) (szülész-nőgyógyász)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM065321
Első szerző:	Nagy Gyula Richárd (szülész-nőgyógyász)
Cím:	Use of Routinely Collected Amniotic Fluid for Whole-Genome Expression Analysis of Polygenic Disorders / Gyula Richárd Nagy, Balázs Győrffy, Orsolya Galamb, Béla Molnár, Bálint Nagy, Zoltán Papp
Dátum:	2006
ISSN:	0009-9147
Megjegyzések:	BACKGROUND:Neural tube defects related to polygenic disorders are the second most common birth defects in the world, but no molecular biologic tests are available to analyze the genes involved in the pathomechanism of these disorders. We explored the use of routinely collected amniotic fluid to characterize the differential gene expression profiles of polygenic disorders.METHODS:We used oligonucleotide microarrays to analyze amniotic fluid samples obtained from pregnant women carrying fetuses with neural tube defects diagnosed during ultrasound examination. The control samples were obtained from pregnant women who underwent routine genetic amniocentesis because of advanced maternal age (>35 years). We also investigated specific folate-related genes because maternal periconceptional folic acid supplementation has been found to have a protective effect with respect to neural tube defects.RESULTS:Fetal mRNA from amniocytes was successfully isolated, amplified, labeled, and hybridized to whole-genome transcript arrays. We detected differential gene expression profiles between cases and controls. Highlighted genes such as SLA, LST1, and BENE might be important in the development of neural tube defects. None of the specific folate-related genes were in the top 100 associated transcripts.CONCLUSIONS:This pilot study demonstrated that a routinely collected amount of amniotic fluid (as small as 6 mL) can provide sufficient RNA to successfully hybridize to expression arrays. Analysis of the differences in fetal gene expressions might help us decipher the complex genetic background of polygenic disorders.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban amniotic fluid whole genome expression analysis
Megjelenés:	Clinical Chemistry. - 52 : 11 (2006), p. 2013-2020. -
További szerzők:	Győrffy Balázs Galamb Orsolya Molnár Béla Nagy Bálint (1956-) (molekuláris genetikus) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: