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1.

001-es BibID:BIBFORM071082
035-os BibID:(WoS)000418021500020 (Scopus)85034071656
Első szerző:Gindele Réka (molekuláris biológus)
Cím:Clinical and laboratory characteristics of antithrombin deficiencies : a large cohort study from a single diagnostic center / Gindele Réka, Selmeczi Anna, Oláh Zsolt, Ilonczai Péter, Pfliegler György, Marján Erzsébet, Nemes László, Nagy Ágnes, Losonczy Hajna, Mitic Gorana, Kovac Mirjana, Balogh Gábor, Komáromi István, Schlammadinger Ágota, Rázsó Katalin, Boda Zoltán, Muszbek László, Bereczky Zsuzsanna
Dátum:2017
ISSN:0049-3848
Megjegyzések:Abstract: Introduction: Inherited antithrombin (AT) deficiency is a heterogeneous disease. Due to low prevalence, only a few studies are available concerning genotype-phenotype associations. The aim was to describe the clinical, laboratory and genetic characteristics of AT deficiency in a large cohort including children and to add further laboratory data on the different sensitivity of functional AT assays. Patients and methods: Non-related AT deficient patients (n=156) and their family members (total n=246) were recruited. Clinical and laboratory data were collected, the mutation spectrum of SERPINC1 was described. Three different AT functional assays were explored. Results: Thirty-one SERPINC1 mutations including 11 novel ones and high mutation detection rate (98%) were detected. Heparin binding site deficiency (type IIHBS) was the most frequent (75.6%) including AT Budapest3 (ATBp3), AT Padua I and AT Basel (86%, 9% and 4% of type IIHBS, respectively). Clinical and laboratory phenotypes of IIHBS were heterogeneous and dependent on the specific mutation. Arterial thrombosis and pregnancy complications were the most frequent in AT Basel and AT Padua I, respectively. Median age at the time of thrombosis was the lowest in ATBp3 homozygotes. The functional assay with high heparin concentration and pH 7.4 as assay conditions had low (44%) sensitivity for ATBp3 and it was insensitive for AT Basel and Padua I. Conclusion: Type IIHBS deficiencies behave differently in clinical and laboratory phenotypes from each other and from other AT deficiencies. Heparin concentration and pH seem to be the key factors influencing the sensitivity of AT functional assays to IIHBS.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
antithrombin deficiency
mutation spectrum
genotype-phenotype association
antithrombin activity
assay sensitivity
Megjelenés:Thrombosis Research. - 160 (2017), p. 119-128. -
További szerzők:Selmeczi Anna (1982-) (orvos) Oláh Zsolt (1974-) (belgyógyász) Ilonczai Péter (1977-) (orvos, belgyógyász, haematológus szakorvos) Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Marján Erzsébet Nemes László Nagy Ágnes (belgyógyász) Losonczy Hajna Mitic, Gorana Kovac, Mirjana Balogh Gábor (1991-) (gyógyszerész) Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Schlammadinger Ágota (1971-) (belgyógyász, haematológus) Molnárné Rázsó Katalin (1966-) (belgyógyász, haematológus, klinikai onkológus) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Muszbek László (1942-) (haematológus, kutató orvos) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
Pályázati támogatás:OTKA-116228
OTKA
K106294
OTKA
GINOP-2.3.2-15-2016-00039
Egyéb
ÚNKP-16-3-III-Gindele Réka
Egyéb
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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2.

001-es BibID:BIBFORM083165
035-os BibID:(PMID)31359133
Első szerző:Kovac, Mirjana
Cím:Genotype phenotype correlation in a pediatric population with antithrombin deficiency / Mirjana Kovac, Gorana Mitic, Iva Djilas, Milos Kuzmanovic, Olivera Serbic, Danijela Lekovic, Branko Tomic, Zsuzsanna Bereczky
Dátum:2019
ISSN:0340-6199
Megjegyzések:Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the AT gene (SERPINC1). Considering that the genotype phenotype relationship in AT deficiency patients remains unclear, especially in pediatric patients, the aim of our study was to evaluate genotype phenotype correlation in a Serbian pediatric population. A retrospective cohort study included 19 children younger than 18 years, from 15 Serbian families, with newly diagnosed AT deficiency. In 21% of the recruited families, mutations affecting exon 4, 5, and 6 of the SERPINC1 gene that causes type I AT deficiency were detected. In the remaining families, the mutation in exon 2 causing type II HBS (AT Budapest 3) was found. Thrombosis events were observed in 1 (33%) of those with type I, 11 (85%) of those with AT Budapest 3 in the homozygous respectively, and 1(33%) in the heterozygous form. Recurrent thrombosis was observed only in AT Budapest 3 in the homozygous form, in 27% during initial treatment of the first thrombotic event. Abdominal venous thrombosis and arterial ischemic stroke, observed in almost half of the children from the group with AT Budapest 3 in the homozygous form, were unprovoked in all cases.Conclusion: Type II HBS (AT Budapest 3) in the homozygous form is a strong risk factor for arterial and venous thrombosis in pediatric patients. What is Known: ? Inherited AT deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1gene. ? The genotype phenotype correlation in AT deficiency patients remains unclear, especially in pediatric patients. What is New: ? The genetic results for our paediatric population predominantly showed the presence of a single specific mutation in exon 2, that causes type II HBS deficiency (AT Budapest 3). ? In this group thrombosis mostly occurred as unprovoked, in almost half of them as abdominal thrombosis or stroke with high incidence of recurrent thrombosis, in 27% during initial treatment.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Antithrombin deficiency
Pediatric population
SERPINC1 mutations
Megjelenés:European Journal of Pediatrics. - 178 : 10 (2019), p. 1471-1478. -
További szerzők:Mitic, Gorana Djilas, Iva Kuzmanovic, Milos Serbic, Olivera Lekovic, Danijela Tomic, Branko Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
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3.

001-es BibID:BIBFORM077461
Első szerző:Kovac, Mirjana
Cím:Evaluation of Endogenous Thrombin Potential among Patients with Antithrombin Deficiency-Serbian at Deficiency Study Group Results / Mirjana Kovac, Gorana Mitic, Sanja Lalic-Cosic, Valentina Djordjevic, Branko Tomic, Zsuzsanna Bereczky
Dátum:2018
ISSN:2504-3900
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
Megjelenés:Proceedings. - 2 : 9 (2018), p. 74-75. -
További szerzők:Mitic, Gorana Lalic-Cosic, Sanja Djordjevic, Valentina Tomic, Branko Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
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Intézményi repozitóriumban (DEA) tárolt változat
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4.

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
Internet cím:Szerző által megadott URL
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Intézményi repozitóriumban (DEA) tárolt változat
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5.

001-es BibID:BIBFORM077228
035-os BibID:(WoS)000432891900008 (Scopus)85045203057
Első szerző:Kovac, Mirjana
Cím:Evaluation of endogenous thrombin potential among patients with antithrombin deficiency / Kovac Mirjana, Mitic Gorana, Lalic-Cosic Sanja, Djordjevic Valentina, Tomic Branko, Muszbek Laszlo, Bereczky Zsuzsanna
Dátum:2018
ISSN:0049-3848
Tárgyszavak:Orvostudományok Klinikai orvostudományok szerkesztői levél
folyóiratcikk
antithrombin deficiency
SERPINC1 mutations
AT Budapest 3
endogenous thrombin potential
Megjelenés:Thrombosis Research. - 166 (2018), p. 50-53. -
További szerzők:Mitic, Gorana Lalic-Cosic, Sanja Djordjevic, Valentina Tomic, Branko Muszbek László (1942-) (haematológus, kutató orvos) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
Pályázati támogatás:PD101120
OTKA
OTKA-116228
OTKA
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Intézményi repozitóriumban (DEA) tárolt változat
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6.

001-es BibID:BIBFORM068574
Első szerző:Kovac, Mirjana
Cím:Early onset of abdominal venous thrombosis in a newborn with homozygous type II heparin-binding site antithrombin deficiency / Kovac Mirjana, Mitic Gorana, Jesic Milos, Djordjevic Valentina, Muszbek Laszlo, Bereczky Zsuzsanna
Dátum:2017
ISSN:0957-5235
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Blood Coagulation & Fibrinolysis 28 : 3 (2017), p. 264-266. -
További szerzők:Mitic, Gorana Jesic, Milos 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
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Intézményi repozitóriumban (DEA) tárolt változat
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7.

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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8.

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)
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