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001-es BibID:BIBFORM079511
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Cell-free nucleic acids in prenatal diagnosis and pregnancy-associated diseases / Bálint Nagy
Dátum:2019
Megjegyzések:There is a great effort to find out the biological role of cell-free nucleic acids (cfNAs). They are considered very promising targets in the diagnosis of genetic diseases. Non-invasive sampling (liquid biopsy) has recently become a very popular method, and new molecular biological techniques have been developed for these types of samples. Application of next-generation sequencing (NGS) and massively parallel sequencing (MPS) is spreading fast. These are the part of the arsenal of the modern prenatal genetic diagnostic laboratories by now. Cell-free DNA based noninvasive prenatal testing accounts for more than half of the prenatal genetic tests performed, it is gradually replacing the invasive amniocentesis or chorionic villus sample-based diagnostics. Besides that, new non-coding RNAs are taking more attention: microRNAs (miRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs) are in the focus of the clinical research to detect the most common pregnancyassociated diseases, like preeclampsia, fetal growth restriction, congenital heart diseases and gestational diabetes.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
cell-free nucleic acids
prenatal diagnosis
miRNA
long non-coding RNA
crcRNA
preeclampsia
gestational diabetes
Megjelenés:Journal of the International Federation of Clinical Chemistry and Laboratory Medicine. - 30 : 2 (2019), p. 215-223. -
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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2.

001-es BibID:BIBFORM065392
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Leptin gene (TTTC)n microsatellite polymorphism in pre-eclampsia and HELLP syndrome / Nagy Balint, Varkonyi Tibor, Molvarec Attila, Lazar Levente, Hupuczi Petronella, Than Nandor Gabor, Rigo Janos Jr.
Dátum:2009
ISSN:1434-6621
Megjegyzések:BACKGROUND:Leptin plays an important role in energy homeostasis. There is polymorphism on the leptin (LEP) gene. Our aim was to compare the tetranucleotide repeat (TTTC)(n) polymorphism in the 3'-flanking region in the LEP gene on DNA samples from patients with pre-eclampsia (PE), hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome and healthy pregnant controls.METHODS:Blood samples were collected from healthy pregnant women (n=88), patients with PE (n=79) and HELLP (n=77) syndrome. Fluorescent PCR and DNA fragment analysis was performed from the isolated DNA for the detection of (TTTC) repeats. The electrophoretograms were evaluated and patients were assigned to two groups; class I low (<190 bp) or class II high (> or =190 bp) PCR fragments.RESULTS:We observed similar distributions of the class I and class II (TTTC) alleles in the groups studied (class I allele: healthy pregnant 58.5%; severe pre-eclamptic 58.3%; HELLP syndrome 52.6%). We detected a higher frequency of the II/II genotype in HELLP syndrome patients (32.4%) compared to healthy controls (22.7%). However, the difference was not statistically significant.CONCLUSIONS:In an ethnically homogenous population, the LEP gene (TTTC) microsatellite polymorphism in the 3'-flanking region does not show a significant difference in the allele and genotype distribution in healthy pregnant, pre-eclamptic and HELLP syndrome patients. Furthermore, we recommend a new classification of the class I and class II alleles based on the distribution of the (TTTC) microsatellites.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
leptin
gene
microsatellite
polymorphism
Megjelenés:Clinical Chemistry And Laboratory Medicine 47 : 9 (2009), p. 1033-1037. -
További szerzők:Várkonyi Tibor Molvarec Attila (szülész-nőgyógyász) Lázár Levente (szülész-nőgyógyász) Hupuczi Petronella (anaesthesiológus) Than Nándor Gábor (szülész-nőgyógyász) Rigó János (1958-) (szülész-nőgyógyász)
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DOI
Intézményi repozitóriumban (DEA) tárolt változat
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3.

001-es BibID:BIBFORM075327
Első szerző:Szabó Gábor (budapesti orvos)
Cím:Increased B-type natriuretic peptide levels in early-onset versus late-onset preeclampsia / Szabó Gábor, Molvarec Attila, Nagy Bálint, Rigó János Jr.
Dátum:2013
ISSN:1434-6621
Megjegyzések:Background: We compared B-type natriuretic peptide (BNP) levels, clinical and laboratory findings in early-onset preeclampsia (EOP), late-onset preeclampsia (LOP) and healthy pregnant groups. Methods: We studied 40 healthy pregnant and 40 preeclamptic patients. Preeclamptics were divided in two groups, the EOP group (n=20) and LOP group (n=20), according to gestational age at the onset of disease. The distinction criterion for early- vs. late-onset was set as week 34 of gestation. The concentration of the BNP levels was measured by a sandwich fluorescence immunoassay. For statistical analysis of the clinical and laboratory findings non-parametric methods were applied. Results: BNP levels were higher in EOP [61.35 (36.95?93.25) pg/mL] and LOP patients [32.4 (19.15?39.2) pg/mL] than in healthy pregnant women [10.05 (6.08?16.03) pg/mL] (both p<0.001). Furthermore, EOPs had significantly higher BNP levels as compared to LOP patients (p<0.001). A BNP cut-off <24.5 pg/mL had a negative-predictive value of 85.1% excluding preeclampsia. There was a significant inverse correlation between plasma BNP levels of EOP patients and sodium (p<0.05) and total protein concentrations (p<0.05). In the EOP group, a significant positive correlation was observed between plasma levels of BNP and hematocrit (p<0.05), serum potassium (p<0.05), urea (p<0.05) and 24-h proteinuria (p<0.05). Conclusions: BNP levels were significantly higher in EOP than in LOP patients. The cut-off value <24.5 pg/mL seems to be a powerful discriminative indicator excluding preeclampsia. The amount of proteinuria and total protein levels correlate with the elevation of the BNP levels. In EOP the extent of proteinuria is higher than in the LOP.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
natriuretic peptide
preeclampsia
B-type
increased
Megjelenés:Clinical Chemistry And Laboratory Medicine. - 52 : 2 (2013), p. 1-8. -
További szerzők:Molvarec Attila (szülész-nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Rigó János (1958-) (szülész-nőgyógyász)
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Intézményi repozitóriumban (DEA) tárolt változat
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