Találati lista | Tudóstér

001-es BibID:	BIBFORM054216
Első szerző:	Ajzner Éva (laboratóriumi szakorvos)
Cím:	Anti-factor V auto-antibody in the plasma and platelets of a patient with repeated gastrointestinal bleeding / É. Ajzner, I. Balogh, G. Haramura, Z. Boda, K. Kalmár, G. Pfliegler, B. Dahlbäck, L. Muszbek
Dátum:	2003
ISSN:	1538-7933
Megjegyzések:	Development of autoantibody against coagulation factor V (FV) is a rare clinical condition with hemorrhagic complications of varying severity. The aim of this study was to establish the pathomechanism of an acquired FV deficiency and characterize the FV inhibitor responsible for the clinical symptoms. A 78-year-old female was admitted to hospital with severe gastrointestinal bleeding. General clotting tests and determination of clotting factors were performed by standard methods. FV antigen and FV containing immune complexes were measured by ELISA. The FV molecule was investigated by Western blotting and by sequencing the f5 gene. The binding of patient's IgG to FV and activated FV (FVa) was demonstrated in an ELISA system and its effect on the procoagulant activity of FVa was tested in clotting tests and in a chromogenic prothrombinase assay. Localization of the epitope for the antibody was performed by blocking ELISA. FV activity was severely suppressed both in plasma and platelets. FV antigen levels were normal by ELISA using polyclonal anti-FV antibody or monoclonal antibody against the connecting region of FV, but depressed when HV1 monoclonal antibody against the C2 domain in the FV light-chain was used as capture antibody. The FV molecule was found intact. An IgG reacting with both FV and FVa was present in the patient's plasma and its binding to FV was inhibited by HV1 antibody. FV-containing immune complexes were detected in the patient's plasma and platelet lysate. The patient's IgG inhibited the procoagulant function of FVa. An anti-FV IgG was present in the patient's plasma and platelets. The autoantibody reacted with an epitope in the C2 domain of FV light chain and neutralized the procoagulant function of FVa.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Journal of thrombosis and haemostasis. - 1 : 5 (2003), p. 943-949. -
További szerzők:	Balogh István (1972-) (molekuláris biológus, genetikus) Haramura Gizella (1957-) (vezető analitikus) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Kalmár Kálmán Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Dahlbäck, Björn Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
Borító:
Saját polcon:

001-es BibID:	BIBFORM043325
035-os BibID:	PMID:11781258
Első szerző:	Ajzner Éva (laboratóriumi szakorvos)
Cím:	Severe coagulation factor V deficiency caused by 2 novel frameshift mutations : 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene / Éva Ajzner, István Balogh, Teréz Szabó, Anikó Marosi, Gizella Haramura, László Muszbek
Dátum:	2002
ISSN:	0006-4971
Megjegyzések:	A male infant with severe bleeding tendency had undetectable factor V activity. Sequence analysis of the proband's DNA revealed one base deletion in exon 13 (2952delT) and one base insertion in exon 16 (5493insG) in heterozygous form. Both mutations introduced a frameshift and a premature stop at codons 930 and 1776, respectively. The proband's father and mother were heterozygous for 2952delT and for 5493insG, respectively. Both mutations would result in the synthesis of truncated proteins lacking complete light chain or its C-terminal part. In the patient's plasma, no factor V light chain was detected by enzyme-linked immunosorbent assay. The N-terminal portion of factor V containing the heavy chain, and the connecting B domain was severely reduced but detectable (1.7%). A small amount of truncated factor V?specific protein with a molecular weight ratio of 236 kd could be immunoprecipitated from the plasma and detected by Western blotting. This protein, factor VDebrecen, corresponds to the translated product of exon 16 mutant allele.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Blood. - 99 : 2 (2002), p. 702-705. -
További szerzők:	Balogh István (1972-) (molekuláris biológus, genetikus) Szabó Terézia Marosi Anikó Haramura Gizella (1957-) (vezető analitikus) Muszbek László (1942-) (haematológus, kutató orvos)
Pályázati támogatás:	T030406 OTKA
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM007182
Első szerző:	Ajzner Éva (laboratóriumi szakorvos)
Cím:	Severe bleeding complications caused by an autoantibody against the B subunit of plasma factor XIII : a novel form of acquired factor XIII deficiency / Éva Ajzner, Ágota Schlammadinger, Adrienne Kerényi, Zsuzsanna Bereczky, Éva Katona, Gizella Haramura, Zoltán Boda, László Muszbek
Dátum:	2009
Megjegyzések:	Acquired factor XIII (FXIII) deficiency due to autoantibody against FXIII is a very rare severe hemorrhagic diathesis. Antibodies directed against the A subunit of FXIII, which interfere with different functions of FXIII, have been described. Here, for the first time, we report an autoantibody against the B subunit of FXIII (FXIII-B) that caused life-threatening bleeding in a patient with systemic lupus erythematosus. FXIII activity, FXIII-A(2)B(2) complex, and individual FXIII subunits were undetectable in the plasma, whereas platelet FXIII activity and antigen were normal. Neither FXIII activation nor its activity was inhibited by the antibody, which bound to structural epitope(s) on both free and complexed FXIII-B. The autoantibody highly accelerated the elimination of FXIII from the circulation. FXIII supplementation combined with immunosuppressive therapy, plasmapheresis, immunoglobulin, and anti-CD20 treatment resulted in the patient's recovery. FXIII levels returned to around 20% at discharge and after gradual increase the levels stabilized above 50%.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Blood. - 113 : 3 (2009), p. 723-725. -
További szerzők:	Schlammadinger Ágota (1971-) (belgyógyász, haematológus) Kerényi Adrienne (1970-) (laboratóriumi szakorvos) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Katona Éva (1961-) (klinikai biokémikus) Haramura Gizella (1957-) (vezető analitikus) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:	elektronikus változat DOI elektronikus változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM005586
Első szerző:	Bereczky Zsuzsanna (orvosi laboratóriumi diagnosztika szakorvos)
Cím:	Factor X Debrecen : Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency / Bereczky Z., Bárdos H., Komáromi I., Kiss C., Haramura G., Ajzner É., Ádány R., Muszbek L.
Dátum:	2008
Megjegyzések:	Due to a homozygous Gly204Arg mutation in the factor X(FX) gene no detectable FX antigen was found in the plasma of a one-year old patient with severe bleeding diathesis. The amino acid replacement destabilized the disulfide bond that holds the two FX chains together, decreasing the interaction between the Cys201-Cys206 loop region and the region connecting the EGF2 and serine protease domains. Both Gly204 FX and Arg204 FX were synthesized in transfected cells, but only the wild type protein became secreted. The mutant protein was diverted from the normal secretory pathway and retained at the trans Golgi-late endosome level.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban factor X factor X deficiency inherited bleeding diathesis rare coagulopathy F10 mutation
Megjelenés:	Haematologica. - 93 : 2 (2008), p. 299-302. -
További szerzők:	Bárdos Helga (1969-) (megelőző orvostan és népegészségtan szakorvos) Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Kiss Csongor (1956-) (hematológus, onkológus) Haramura Gizella (1957-) (vezető analitikus) Ajzner Éva (1968-) (laboratóriumi szakorvos) Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:	elektronikus változat DOI
Borító:
Saját polcon: