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001-es BibID:BIBFORM056696
Első szerző:Árokszállási Anita (orvos)
Cím:The use of recombinant factor XIII in a major bleeding episode of a patient with congenital factor XIII deficiency - the first experience / A. Árokszállási, A. Kerényi, É. Katona, Z. Bereczky, L. Muszbek, Z. Boda, Á. Schlammadinger
Dátum:2015
ISSN:1351-8216
Megjegyzések:Congenital factor XIII (FXIII) deficiency is a rare,autosomal-recessive bleeding diathesis that can be associatedwith impaired wound healing and recurrent miscarriages.Delayed umbilical cord bleeding is a typicalearly presentation. Intracranial haemorrhage developsfar more frequently than in any other inherited bleedingdisorder. Therefore, life-long prophylactic factor supplementationis mandatory if FXIII activity is below 1%.Subcutaneous, mucosal, intramuscular or joint bleedingand postoperative haemorrhage can also occur [1].Previously, plasma-derived sources of FXIII wereavailable for preventive and on-demand therapy. A noveloption for FXIII replacement is a recombinant FXIII(rFXIII) concentrate (catridecacog, NovoThirteen , NovoNordisk, Bagsvaerd, Denmark) that contains the A subunit(FXIII-A) from the tetramer of plasma FXIII-A2B2.Recombinant FXIII-A2 (rFXIII-A2) combines with endogenousB subunit (FXIII-B) to form stable FXIII-rA2B2reaching a half-life of 6?12 days [2,3]. Currently rFXIII islicensed for monthly prophylaxis in a dose of 35 IU kg 1in severe congenital FXIII-A subunit deficiency [www.ema.europa.eu, www.fda.gov]. The efficacy and safety ofrFXIII have not been tested in acute bleeding. However,pharmacokinetic profile of rFXIII [3] supports the hypothesisthat it is also suitable for on-demand therapy [1].This letter reports the effective use of rFXIII for thetreatment of a major bleeding in a patient with severecongenital FXIII-A deficiency.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Haemophilia. - 21 : 1 (2015), p. e118-e121. -
További szerzők:Kerényi Adrienne (1970-) (laboratóriumi szakorvos) Katona Éva (1961-) (klinikai biokémikus) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Muszbek László (1942-) (haematológus, kutató orvos) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Schlammadinger Ágota (1971-) (belgyógyász, haematológus)
Pályázati támogatás:TÁMOP-4.2.2.A-11/1/KONV-2012-0045
TÁMOP
Trombózis Kutató Központ Kutatócsoport
K-109543
OTKA
MTA-DE
MTA
Vascularis Biológia, Thrombosis-Haemostasis Kutatócsoport
Internet cím:DOI
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2.

001-es BibID:BIBFORM049185
035-os BibID:PMID:24118344
Első szerző:Katona Éva (klinikai biokémikus)
Cím:Factor XIII deficiency : complete phenotypic characterization of two cases with novel causative mutations / É. Katona, L. Muszbek, K. Devreese, K. B. Kovács, Z. Bereczky, M. Jonkers, A. H. Shemirani, V. Mondelaers, A. A. M. Ermens
Dátum:2014
ISSN:1351-8216
Megjegyzések:Coagulation factor XIII (FXIII) exists as heterotetramer (FXIII-A2 B2 ) in the plasma and as dimer (FXIII-A2 ) in cells. Activated FXIII mechanically stabilizes fibrin and protects it from fibrinolysis by cross-linking fibrin chains and α2 -plasmin inhibitor to fibrin. FXIII is essential to maintaining haemostasis, and its deficiency causes severe bleeding diathesis. Due to improper laboratory practices, FXIII deficiency is considered the most under-diagnosed bleeding disorder. The aim of this study was to demonstrate in two cases how FXIII deficiency is properly diagnosed and classified, and to compare results of laboratory analysis and clinical symptoms. FXIII activity from plasma and platelets was measured by a modified ammonia release assay, while FXIII-A2 B2 , FXIII-A and FXIII-B antigens were determined by ELISA. The exon-intron boundaries and the promoter region of F13A1 gene were amplified by PCR and the amplified products were analysed by direct fluorescent sequencing. FXIII-A mRNA in platelets was determined by RT-qPCR. Two children with severe bleeding symptoms were investigated. In both cases FXIII activity and FXIII-A antigen were undetectable in the plasma and platelet lysate. In the plasma no FXIII-A2 B2 antigen was found, while FXIII-B antigen was >30% in both cases. Proband1 was a compound heterozygote possessing a known missense mutation (c.980G>A, p.Arg326Gln) and a novel splice-site mutation (c.1112+2T>C). Proband2 was homozygote for a novel single nucleotide deletion (c.212delA) leading to early stop codon. The discovered mutations explain the severity of clinical symptoms and the laboratory data. Methods precise in the low activity/antigen range are required to draw valid conclusion on phenotype-genotype relationship.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
factor XIII
factor XIII determination
factor XIII-A deficiency
rare bleeding disorder
single nucleotide deletion
splice-site mutation
Doktori iskola
Megjelenés:Haemophilia. - 20 : 1 (2014), p. 114-120. -
További szerzők:Muszbek László (1942-) (haematológus, kutató orvos) Devreese, K. Kovács Kitti Bernadett (1985-) (neurológus) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Jonkers, M. Shemirani, Amir-Houshang (1971-) (kutató orvos, laboratórium szakorvos) Mondelaers, V. Ermens, A. A. M.
Pályázati támogatás:OTKA K78386
OTKA
MTA-DE
MTA
TÁMOP-4.2.2/B-10/1-2010-0024
TÁMOP
Laki Kálmán Doktori Iskola
TÁMOP-4.2.2.A-11/1/KONV-2012-0045
TÁMOP
Trombózis Kutató Központ Kutatócsoport
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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3.

001-es BibID:BIBFORM068257
Első szerző:Kun Mária (klinikai laboratóriumi kutató)
Cím:Severe bleeding diatheses in an elderly patient with combined type autoantibody against factor XIII A subunit : novel approach to the diagnosis and classification of anti-factor XIII antibodies / Kun M., Szuber N., Katona É., Pénzes K., Bonnefoy A., Bécsi B., Erdődi F., Rivard G. E., Muszbek L.
Dátum:2017
ISSN:1351-8216
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Haemophilia 23 : 4 (2017), p. 590-597. -
További szerzők:Szuber N. Katona Éva (1961-) (klinikai biokémikus) Pénzes-Daku Krisztina (1978-) (biológus) Bonnefoy, Arnaud Bécsi Bálint (1981-) (vegyészmérnök) Erdődi Ferenc (1953-) (biokémikus) Rivard, G. E. Muszbek László (1942-) (haematológus, kutató orvos)
Pályázati támogatás:K113097
OTKA
MTA11003TKI417
Egyéb
Internet cím:Szerző által megadott URL
DOI
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4.

001-es BibID:BIBFORM063575
Első szerző:Pénzes-Daku Krisztina (biológus)
Cím:Alloantibody developed in a factor XIII A subunit deficient patient during substitution therapy : characterization of the antibody / K. Penzes, C. Vezina, Z. Bereczky, E. Katona, M. Kun, L. Muszbek, G. E. Rivard
Dátum:2016
ISSN:1351-8216
Megjegyzések:Introduction: In factor XIII A subunit (FXIIIA) deficiency, the development of alloantibodies is extremely rare.Only four reports have been published and the antibodies were not characterized. Aim: The aim of this studywas to describe the clinical course and the laboratory diagnosis of a FXIII-A deficient patient who developedalloantibodies. Methods: FXIII activity was assessed with an ammonia release assay. FXIII-A, FXIII B subunit(FXIII-B) and the complex plasma FXIII (FXIII-A2B2) antigens were determined by ELISA. The causativemutation was detected by fluorescent DNA sequencing. The binding of alloantibody to FXIII-A2 and FXIII-A2B2was studied by surface plasmon resonance. The cleavage of FXIII-A by thrombin and Ca2+-induced activation ofthrombin-cleaved FXIII were followed by western blotting and activity measurement, respectively. Results: FXIIIactivity, FXIII-A2B2 and FXIII-A antigens were below the limit of detection in the patient's plasma. The severeFXIII-A deficiency was due to a novel homozygous mutation resulting in early stop codon (c.127C>T,p.Gln42STOP). The alloantibody bound to FXIII-A2 and FXIII-A2B2 with equally high affinity (Kd~10 8). Itaccelerated the elimination of administered FXIII concentrate from the circulation, interfered with thrombin andCa2+-induced activation and inhibited FXIII activity. Attempts to eliminate the alloantibody resulted only intransient improvement. Patient developed intracerebral haemorrhage after a minor trauma and died in spite ofaggressive replacement therapy with FXIII concentrate. Conclusion: The anti-FXIII-A alloantibody caused anunmanageable bleeding complication. The antibody was of combined subtype which accelerated the eliminationof FXIII and exerted a multiple inhibitory effect on FXIII activation/activity.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
acquired FXIII deficiency
alloantibody
bleeding diathesis
FXIII
inherited FXIII deficiency
Megjelenés:Haemophilia 22 : 2 (2016), p. 268-275. -
További szerzők:Vezina, C. Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Katona Éva (1961-) (klinikai biokémikus) Kun Mária (1989-) (klinikai laboratóriumi kutató) Muszbek László (1942-) (haematológus, kutató orvos) Rivard, G. E.
Pályázati támogatás:K113097
OTKA
11003TKI417
MTA
TÁMOP-4.2.2.A-11/1/KONV-2012-0045
TÁMOP
Trombózis Kutató Központ Kutatócsoport
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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