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001-es BibID:BIBFORM077230
035-os BibID:(WoS)000454370700003 (Scopus)85056672197
Első szerző:Kovac, Mirjana
Cím:The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications / Mirjana Kovac, Gorana Mitic, Zeljko Mikovic, Vesna Mandic, Predrag Miljic, Mirjana Mitrovic, Branko Tomic, Zsuzsanna Bereczky
Dátum:2019
ISSN:0049-3848
Megjegyzések:BACKGROUND: Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1 gene. The most common clinical presentation in AT deficient patients includes venous thrombosis and pulmonary embolism, while the association of AT deficiency and its effect on the development of pregnancy complications has been less studied. The aim of our research was to evaluate the effect of AT deficiency types, determined by genotyping, on pregnancy outcomes. METHODS: A retrospective cohort study included 28 women with AT deficiency, and their 64 pregnancies were analyzed. RESULTS: With regard to live birth rate, a significant difference was observed among women who were carriers of different SERPINC1 mutations, as the rate varied from 100% in cases of type I to the extremely low rate of 8% for women with type II HBS (AT Budapest 3) in the homozygous variant, P?=?0.0005. All pregnancies from the type I group, even untreated ones, resulted in live births. In women with AT Budapest 3 in homozygous variant the overall live birth rate increased to 28.5% in the treated pregnancies. In this group the highest incidence of fetal death was observed of 62%; repeated fetal losses in 30%; fetal growth restriction in 22% and placental abruption in 7% of all pregnancies. CONCLUSION: Our study results indicate a difference between type I and type II AT deficiency. The risk of pregnancy related VTE was equally present in both groups, except for AT Budapest 3 in the heterozygous variant, while adverse pregnancy outcomes were strictly related to type II, especially AT Budapest 3 in the homozygous variant.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
antithrombin deficiency
SERPINC1 mutations
pregnancy outcome
Megjelenés:Thrombosis Research. - 173 (2019), p. 12-19. -
További szerzők:Mitic, Gorana Mikovic, Zeljko Mandic, Vesna Miljic, Predrag Mitrovic, Mirjana Tomic, Branko Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
Pályázati támogatás:OTKA-116228
OTKA
GINOP-2.3.2-15-2016-00039
GINOP
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2.

001-es BibID:BIBFORM063573
035-os BibID:(WoS)000370879300017 (Scopus)84960127994
Első szerző:Kovac, Mirjana
Cím:Pregnancy related stroke in the setting of homozygous type-II HBS antithrombin deficiency / Mirjana Kovac, Gorana Mitic, Zeljko Mikovic, Valentina Djordjevic, László Muszbek, Zsuzsanna Bereczky
Dátum:2016
ISSN:0049-3848
Megjegyzések:Dear Editors,Stroke is defined as a focal or global disturbance of cerebral functionlasting over 24 h; resulting from disruption of blood supply [1]. Strokeduring pregnancy is fortunately a rare event, but it can have severe consequences,such as long-termdisability or death,with 9.5% of allmaternaldeaths being related to stroke [2]. The overall risk of pregnancyrelatedstroke was 34.2 (95% CI 33.3?35.1) per 100 000 deliveries inthe USA, with 48% occurring postpartum, 41% at the time of deliveryand 11% antepartum [3]. The physiological changes of pregnancycould be connected with increased stroke risk, while several specificmedical conditions, including hypertensive disorders, obesity andheart disease, additionally increase it [1].Moreover, patient risk factors,like a hypercoagulable state and preeclampsia, also need to be takeninto account. Data from an earlier study [3] showed that thrombophiliais strongly associated with stroke, indicating an OR of 16 (CI 9.4?27.2).Inherited antithrombin (AT) deficiency is a rare autosomal dominantdisorder, caused bymutation in SERPINC1. So far, over 250 differentmutations leading to AT deficiency have been reported [4]. It is classifiedinto two types; type-I is a quantitative disorder characterized by bothdecreased antigen amount and activity, while type-II is a functional disorderclassified into three subtypes according to the site of the causativemutations [5]. Unlike other forms of AT deficiency, type-II HBS representsa minor thrombotic risk in its heterozygous form, while homozygoustype-II HBS AT deficiency is characterized by early onset of arterialand venous thrombosis [6].
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
type-II HBS antithrombin deficiency
Pregnancy
Stroke
Megjelenés:Thrombosis Research. - 139 (2016), p. 111-113. -
További szerzők:Mitic, Gorana Mikovic, Zeljko Djordjevic, Valentina Muszbek László (1942-) (haematológus, kutató orvos) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
Pályázati támogatás:PD101120
OTKA
K116228
OTKA
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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3.

001-es BibID:BIBFORM051950
Első szerző:Kovac, Mirjana
Cím:Poor pregnancy outcome in women with homozygous type-II HBS antithrombin deficiency / Mirjana Kovac, Gorana Mitic, Predrag Miljic, Zeljko Mikovic, Vesna Mandic, Valentina Djordjevic, Dragica Radojkovic, Zsuzsanna Bereczky, László Muszbek
Dátum:2014
ISSN:0049-3848
Tárgyszavak:Orvostudományok Klinikai orvostudományok levél
Megjelenés:Thrombosis Research. - 133 : 6 (2014), p. 1158-1160. -
További szerzők:Mitic, Gorana Miljic, Predrag Mikovic, Zeljko Mandic, Vesna Djordjevic, Valentina Radojkovic, Dragica Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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