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1.

001-es BibID:BIBFORM065324
Első szerző:Lázár Levente (szülész-nőgyógyász)
Cím:Presence of Cell-Free Fetal DNA in Plasma of Women with Ectopic Pregnancies / Levente Lázár, Bálint Nagy, Zoltán Bán, Gyula R. Nagy, Zoltán Papp
Dátum:2006
ISSN:0009-9147
Megjegyzések:BACKGROUND: The quantity of cell-free fetal DNA in the plasma of pregnant women changes during pregnancy and seems to be different in normal and pathologic pregnancies. We investigated the possible diagnostic applications of the detection and measurement of cell-free fetal DNA by comparing quantities found in women with ectopic (EP) or intrauterine (IUP) pregnancies. METHODS: We collected blood samples from 58 women who had positive pregnancy tests and specific complaints and sonographic findings suggestive of EP and from 45 women with confirmed IUP. We performed quantitative real-time PCR analysis of the sex-determining region Y (SRY) gene to detect and measure the amount of cell-free fetal DNA. The diagnosis of EP was confirmed by histologic examination. RESULTS: SRY was detected in 15 EP and 14 IUP cases. The mean (SD) amount of cell-free fetal DNA was significantly higher (P<0.005) in women with EP [565 (136) genome-equivalents (GE)/mL] than in women with IUP [72 (19) GE/mL] at the same gestational age. CONCLUSIONS: Our results confirm that cell-free fetal DNA is present in plasma of women with EP. The finding of higher amounts of cell-free fetal DNA in EP cases than in IUP cases suggests that this method might be useful for early diagnosis of EP.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
cell free
fetal
DNA
plasma
ectopic
pregnancy
Megjelenés:Clinical Chemistry. - 52 : 8 (2006), p. 1599-1601. -
További szerzők:Nagy Bálint (1956-) (molekuláris genetikus) Bán Zoltán (nőgyógyász) Nagy Gyula Richárd (szülész-nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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2.

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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3.

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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4.

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)
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5.

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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6.

001-es BibID:BIBFORM074808
Első szerző:Tóth Tamás
Cím:Accurate sizing of (CAG)n repeats causing Huntington disease by fluorescent PCR / Tamás Tóth, Ian Findlay, Bálint Nagy, Zoltán Papp
Dátum:1997
ISSN:0009-9147
Megjegyzések:Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations. Mapping of the putative HD gene to chromosome 4 in 1983 [1] facilitated presymptomatic testing of people at risk for HD by using linked polymorphic DNA markers. This method required DNA from related individuals to track the putative HD allele within a family. The situation changed after the gene responsible for HD was identified in 1993 [2], and a new method, based on PCR, became available for the detection of the disorder. This new method also enabled direct mutation analysis and genetic counseling for new mutation HD families. The mutation mechanism was found to be the expansion of a CAG repeat in the 5·-translated region of the HD gene. The mechanism by which the increased trinucleotide repeat length leads to the characteristic clinical symptoms and neuropathology of HD is, as yet, unknown. The CAG repeat of the HD gene is polymorphic in the population, varying between 8 and 36 repeats on normal chromosomes and is expanded with >37 repeats in chromosomes of HD-affected individuals [3].
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Huntington disease
F-PCR
CAG repeats
Megjelenés:Clinical Chemistry. - 43 : 12 (1997), p. 2422-2423. -
További szerzők:Findlay, Ian Nagy Bálint (1956-) (molekuláris genetikus) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus) Nagy Bálint (1956-) (molekuláris genetikus) Nagy Bálint (1956-) (molekuláris genetikus)
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