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001-es BibID:	BIBFORM003761
Első szerző:	Nyolczas Noémi
Cím:	Design and rationale for the Myocardial Stem Cell Administration After Acute Myocardial Infarction (MYSTAR) Study : a multicenter, prospective, randomized, single-blind trial comparing early and late intracoronary or combined (percutaneous intramyocardial and intracoronary) administration of nonselected autologous bone marrow cells to patients after acute myocardial infarction / Nyolczas, N., Gyongyosi, M., Beran, G., Dettke, M., Graf, S., Sochor, H., Christ, G., Edes, I., Balogh, L., Krause, K. T., Jaquet, K., Kuck, K. H., Benedek, I., Hintea, T., Kiss, R., Preda, I., Kotevski, V., Pejkov, H., Dudek, D., Heba, G., Sylven, C., Charwat, S., Jacob, R., Maurer, G., Lang, I., Glogar, D.
Dátum:	2007
Megjegyzések:	Previous data suggest that bone marrow-derived stem cells (BM-SCs) decrease the infarct size and beneficially affect the postinfarction remodeling. METHODS: The Myocardial Stem Cell Administration After Acute Myocardial Infarction Study is a multicenter, prospective, randomized, single-blind clinical trial designed to compare the early and late intracoronary or combined (percutaneous intramyocardial and intracoronary) administration of BM-SCs to patients after acute myocardial infarction (AMI) with reopened infarct-related artery. The primary end points are the changes in resting myocardial perfusion defect size and left ventricular ejection fraction (gated single photon emission computed tomography [SPECT] scintigraphy) 3 months after BM-SCs therapy. The secondary end points relate to evaluation of (1) the safety and feasibility of the application modes, (2) the changes in left ventricular wall motion score index (transthoracic echocardiography), (3) myocardial voltage and segmental wall motion (NOGA mapping), (4) left ventricular end-diastolic and end-systolic volumes (contrast ventriculography), and (5) the clinical symptoms (Canadian Cardiovascular Society [CCS] anina score and New York Heart Association [NYHA] functional class) at follow-up. Three hundred sixty patients are randomly assigned into 1 of 4 groups: group A, early treatment (21-42 days after AMI) with intracoronary injection; group B, early treatment with combined application; group C, late treatment (3 months after AMI) with intracoronary delivery; and group D, late treatment with combined administration of BM-SCs. Besides the BM-SCs therapy, the standardized treatment of AMI is applied in all patients. CONCLUSIONS: The Myocardial Stem Cell Administration After Acute Myocardial Infarction Trial is the first randomized trial to investigate the effects of the combined (intramyocardial and intracoronary) and the intracoronary mode of delivery of BM-SCs therapy in the early and late periods after AMI.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Bone Marrow Cells Bone Marrow Transplantation Coronary Vessels Echocardiography Humans methods Multicenter Studies as Topic Myocardial Infarction Myocardium Perfusion Prospective Studies Research Design Single-Blind Method surgery therapy Time Factors
Megjelenés:	American Heart Journal. - 153 : 2 (2007), p. 212-217. -
További szerzők:	Gyöngyösi Mariann Beran, Gilbert Dettke, Markus Graf, Senta Sochor, Heinz Christ, Günther Édes István (1952-) (kardiológus) Balogh László (1976-) (kardiológus) Krause, Korff T. Jaquet, Kai Kuck, Karl Heinz Benedek Imre Hintea, Theodora Kiss Róbert Préda István Kotevski Vladimir Pejkov, Hristo Dudek, Darius Heba, Grzegorz Sylven, Christer Charwat, Silvia Jacob, Ronaldo Maurer, Gerald Lang, Irene Glogar, Dietmar
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001-es BibID:	BIBFORM101808
035-os BibID:	(cikkazonosító)1132 (WoS)000803448700001 (Scopus)85130014816
Első szerző:	Sepp Róbert
Cím:	The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary : analysis of 242 Patients with a Panel of 98 Genes / Sepp Róbert, Hategan Lidia, Csányi Beáta, Borbás János, Tringer Annamária, Pálinkás Eszter Dalma, Nagy Viktória, Takács Hedvig, Latinovics Dóra, Nyolczas Noémi, Pálinkás Attila, Faludi Réka, Rábai Miklós, Szabó Gábor Tamás, Czuriga Dániel, Balogh László, Halmosi Róbert, Borbély Attila, Habon Tamás, Hegedűs Zoltán, Nagy István
Dátum:	2022
ISSN:	2075-4418
Megjegyzések:	Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium most commonly caused by mutations in sarcomeric genes. We aimed to perform a nationwide large-scale genetic analysis of a previously unreported, representative HCM cohort in Hungary. A total of 242 consecutive HCM index patients (127 men, 44 11 years) were studied with next generation sequencing using a custom-designed gene-panel comprising 98 cardiomyopathy-related genes. A total of 90 patients (37%) carried pathogenic/likely pathogenic (P/LP) variants. The percentage of patients with P/LP variants in genes with definitive evidence for HCM association was 93%. Most of the patients with P/LP variants had mutations in MYBPC3 (55 pts, 61%) and in MYH7 (21 pts, 23%). Double P/LP variants were present in four patients (1.7%). P/LP variants in other genes could be detected in 3% of patients. Of the patients without P/LP variants, 46 patients (19%) carried a variant of unknown significance. Non-HCM P/LP variants were identified in six patients (2.5%), with two in RAF1 (p.Leu633Val, p.Ser257Leu) and one in DES (p.Arg406Trp), FHL1 (p.Glu96Ter), TTN (p.Lys23480fs), and in the mitochondrial genome (m.3243A>G). Frameshift, nonsense, and splice-variants made up 82% of all P/LP MYBPC3 variants. In all the other genes, missense mutations were the dominant form of variants. The MYBPC3 p.Gln1233Ter, the MYBPC3 p.Pro955ArgfsTer95, and the MYBPC3 p.Ser593ProfsTer11 variants were identified in 12, 7, and 13 patients, respectively. These three variants made up 36% of all patients with identified P/LP variants, raising the possibility of a possible founder effect for these mutations. Similar to other HCM opulations, the MYBPC3 and the MYH7 genes seemed to be the most frequently affected genes in Hungarian HCM patients. The high prevalence of three MYBPC3 mutations raises the possibility of a founder effect in our HCM cohort.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk hypertrophic cardiomyopathy genetic analysis genetic variant
Megjelenés:	Diagnostics. - 12 : 5 (2022), p. 1-12. -
További szerzők:	Hategan, Lidia Csányi Beáta Borbás János Tringer Annamária Pálinkás Eszter Dalma Nagy Viktória (1989-) (vegyész és kémia tanár) Takács Hedvig Latinovics Dóra Nyolczas Noémi Pálinkás Attila Faludi Réka Rábai Miklós Szabó Gábor Tamás (1982-) (kardiológus) Czuriga Dániel (1982-) (kardiológus) Balogh László (1976-) (kardiológus) Halmosi Róbert Borbély Attila (1978-) (kardiológus) Habon Tamás Hegedűs Zoltán Nagy István Péter (1964-) (vegyész, kémikus)
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