Összesen 2 találat.


001-es BibID:BIBFORM069450
Első szerző:Kárai Bettina (orvos)
Cím:A single-tube flow cytometric procedure for enhancing the diagnosis and prognostic classification of patients with myelodysplastic syndromes / B. Kárai, J. Bedekovics, Zs. Miltényi, L. Gergely, L. Szerafin, A. Ujfalusi, J. Kappelmayer, Zs. Hevessy
ISSN:1751-5521 1751-553X
Megjegyzések:AbstractIntroduction: We created a simple and effective flow cytometry scoring system (FCSS)for suspected Myelodysplastic syndromes (MDS) samples and evaluated its diagnosticand prognostic potential.Methods: Besides evaluating the four parameters suggested by Ogata, we investigatederythroid precursors and mast cells. We evaluated the six-parameterFCSS in a four-color setting (test cohort: 51 patients; 25 controls), then we implemented it into an eight-color setting and tested it on a validation cohort of patients with MDS (n=31).Results: When we compared MDS cases to non-MDS samples in the test cohort, wedetected significant differences regarding not only the four major parameters but alsotwo additional ones, namely CD71 rCV% of erythroid precursors (P=.004) and mastcell percentage (MC%) (P=.001). The utilization of the modified six-parameterFCSS provided high sensitivity and specificity both in the four color (84% and 80%, respectively) and in the eight color (81% and 100%, respectively) setting, with an excellentdiscriminative power between MDS and non-MDS samples. Furthermore, we foundsignificant difference in event-free survival between the risk groups based on themodified six-parameter FCSS (P=.001).Conclusion: We evaluated and validated a single-tube flow cytometric procedure fora simple six-parameter FCSS which has not only high diagnostic but also prognosticpower.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
erythroid CD71
flow cytometry scoring system
mast cell
Myelodysplastic syndrome
rare events
Megjelenés:International Journal Of Laboratory Hematology 39 : 6 (2017), p. 577-584. -
További szerzők:Bedekovics Judit (1986-) (orvos) Miltényi Zsófia (1975-) (belgyógyász, haematológus) Gergely Lajos (1940-) (szakorvos, klinikai mikrobiológus) Szerafin László (1958-) (belgyógyászat, haematológia, klinikai onkológia szakorvos) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Kappelmayer János (1960-) (laboratóriumi szakorvos) Hevessy Zsuzsanna (1966-) (laboratóriumi szakorvos)
Internet cím:DOI
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001-es BibID:BIBFORM104619
035-os BibID:(cikkazonosító)3475 (WoS)000883850300001 (Scopus)85141641121
Első szerző:Madarász Kristóf (biológus)
Cím:Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia / Madarász Kristóf, Mótyán János András, Bedekovics Judit, Miltényi Zsófia, Ujfalusi Anikó, Méhes Gábor, Mokánszki Attila
Megjegyzések:Background: Mutation of the TP53 gene is one of the major drivers of myelodysplastic neoplasias (MDS) and acute myeloid leukemia with myelodysplasia-related changes (AML-MR). TP53 mutations present in these hematopoietic malignancies form a distinct molecular genetic cluster with a worse prognosis than without the alteration. However, besides well-characterized hot-spot variants, a significant proportion of TP53 alterations are of uncertain clinical significance. Methods: To enlighten so far unknown aspects, bone-marrow samples from altogether 77 patients are analyzed retrospectively with the diagnosis of AML-MR (26 cases), MDS-IB (12 cases), and MDS-LB (39 cases) according to WHO 2022 guidelines. Next-generation sequencing results are correlated with histological, cytogenetic, and survival data. Results: Twenty out of the 30 TP53 mutation types detected by NGS are not categorized in current public databases; thus, their clinical significance remained mysterious. Because of the interpretation difficulties and the absence of clinical correlations, pathogenicity is established based on in silico approaches. The 12 pathogenicity classification systems, as well as protein stability, protein?DNA, protein?protein interaction, and post-translational modification analyses are applied. We found statistically significant differences between AML/MDS groups considering p53 pathogenicity, protein structural changes, and overall survival. The largest number of abnormalities with the most severe consequences are found in AML-MR cases. Conclusions: These molecular and in silico protein data further support that MDS with increased-blast (MDS-IB) is an intermediate group between AML-MR and MDS with low-blast (MDS-LB) patients, which frequently progresses to AML and is therefore considered a pre-leukemic condition.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
in silico bioinformatic analysis
next-generation sequencing (NGS)
p53 protein
TP53 gene
acute myeloid leukemia (AML)
myelodysplastic neoplasias (MDS)
Megjelenés:Cells. - 11 : 21 (2022), p. 1-23. -
További szerzők:Mótyán János András (1981-) (biokémikus, molekuláris biológus) Bedekovics Judit (1986-) (orvos) Miltényi Zsófia (1975-) (belgyógyász, haematológus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Méhes Gábor (1966-) (patológus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató)
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