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Limperger Verena Kenet Gili Kiesau Bettina Köther Max Schmeiser Malin Langer Florian Juhl David Shneyder Maria Franke Andre Klostermeier Ulrich K. Mesters Rolf Rühle Frank Stoll Monika Steppat Dagmar Kowalski Dorothee Rocke Angela Kuta Piotr Bajorat Tido Torge Antje Neuner Bruno Junker Ralf Nowak-Göttl Ulrike 《Journal of thrombosis and thrombolysis》2021,51(2):494-501
Journal of Thrombosis and Thrombolysis - The role of the A>G polymorphism at position 19911 in the prothrombin gene (factor [F] 2 at rs3136516) as a risk factor for venous thromboembolism... 相似文献
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Verena Limperger Ulrich C. Klostermeier Gili Kenet Susanne Holzhauer Martine Alhenc Gelas Ulrich Finckh Ralf Junker Christine Heller Barbara Zieger Karin Kurnik Ralf Knöfler Rolf Mesters Susan Halimeh Ulrike Nowak‐Göttl 《British journal of haematology》2014,167(3):385-393
Venous thromboembolism [TE] is a multifactorial disease and protein C deficiency [PCD] constitutes a major risk factor. In the present study the prevalence of PCD and the clinical presentation at TE onset, including neonatal purpura fulminans, in a cohort of children are reported. In 367 unselected children (0·1–19 years) recruited between July 1996 and December 2013, a comprehensive thrombophilia screening was performed along with recording of anamnestic data. Twenty‐five of 338 children (7·4%) had PCD. Mean age at first TE onset was 10 years (range 0·1–18). Leading thromboembolic manifestations were neonatal purpura fulminans (n = 5), TE of cerebral veins (n = 3), stroke (n = 2) deep veinthrombosis (DVT) of the leg (n = 10), DVT & pulmonary embolism (n = 2) and DVT & pelvic veins (n = 3). Concomitant risk factors for TE were identified in 12 patients, whereas 13 children spontaneously developed TE. A positive family history of DVT was found in 10 children. In this unselected cohort of paediatric patients with symptomatic TE the overall prevalence of PCD was 7·4%; 1·5% presented with neonatal purpura fulminans. Given its clinical implication for patients and family members, thrombophilia testing should be performed and the benefit of medical or educational interventions should be evaluated in this high‐risk population. 相似文献
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Gili Kenet Christoph Bidlingmaier Nadja Bogdanova Carmen Escuriola Ettingshausen Neil Goldenberg Sven Gutsche Susan Halimeh Susanne Holzhauer Karin Kurnik Verena Limperger Ralf Junker Ulrike Nowak-Göttl 《Thrombosis research》2014
Objective
The present cohort study was performed to investigate the impact of the factor 5 rs6025 [F5] and the factor 2 rs1799963 [F2] mutations on high-titer inhibitor development [HRI] in patients with severe/moderate-severe hemophilia A [HA].Patients and Methods
216 patients with F8 < 2% born between 1980 and 2011 were followed after initial HA diagnosis over the first 200 exposure days. The first HA patient per family who presented for diagnosis was included in the present study.Results
32 of 216 children [14.8%] tested for F5/F2 carried either the F5 or the F2 variant. HRI occurred in 14 out of 32 F5/F2-carriers compared with 40 of 184 without F5/F2. Multivariate analysis adjusted for F8 genotype, treatment intensity, first-line use of plasma derived FVIII versus recombinant FVIII concentrates revealed that the presence of F5/F2 independently increases the risk of HRI development to odds [OR] of 3.4. Large deletions in the F8 gene [OR: 5.10], patients from Israel [OR: 4.0], the increase of FVIII per one IU/kgbw [OR: 1.05] and birth year [OR: 1.12] were significantly associated with the risk to develop HRI.Conclusion
Data presented here suggest that HRI development is of multifactorial origin and that F5 and F2 mutations may contribute to this risk. 相似文献4.
Christian von der Brelie Alexander Subai Verena Limperger Veit Rohde Astrid Dempfle Azize Boström 《Neurosurgical review》2018,41(2):531-538
Platelet function might play an essential role in the pathogenesis of delayed cerebral ischemia (DCI) after aneurysmal subarachnoid haemorrhage (SAH). Thus, impaired platelet function and disturbed primary haemostasis induced by intake of acetylsalicylic acid (ASA) might influence the rate of DCI. Primary haemostasis and platelet function can be measured with in vitro diagnosis (platelet function analyser test, PFA 100). The aim of this study is to evaluate the rate of DCI, haemorrhagic complications and the neurological outcome. Two groups were compared (patients with regular platelet function versus patients with impaired platelet function). This is a retrospective observational study. An initial cohort of 787 patients with SAH has been treated from January 2005 to September 2012. Seventy-nine patients (10%) with aneurysmal SAH, a history of ASA medication and PFA testing within the first 24 h after aneurysm rupture have been included. The overall rate of DCI in the present study was 43%. In vitro platelet function testing showed pathological primary haemostasis in 69.6%. The DCI rate was higher in patients with regular tested primary haemostasis (p = 0.02, OR = 3.16, 95%CI = [1.19; 8.83]). However, outcome assessment by mGOS did not show a significant difference between the groups. Patients with impaired primary haemostasis did not display a higher rate of haemorrhagic complications. Impairment of primary haemostasis resulting from an impairment of platelet function at an early stage after SAH might lead to a lower rate of DCI. In vitro testing of platelet function might be useful to predict the occurrence of DCI in the course. 相似文献
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Verena Limperger Gili Kenet Neil A. Goldenberg Christine Heller Susanne Holzhauer Ralf Junker Ulrich C. Klostermeier Ralf Knoefler Karin Kurnik Anne Krümpel Rolf Mesters Michael Stach Guy Young Ulrike Nowak‐Gttl 《British journal of haematology》2016,175(1):133-140
Deficiency of antithrombin (AT), protein C (PC) or protein S (PS) constitutes a major risk factor for venous thromboembolism (VTE). Individuals at high risk for recurrence who benefit from screening need to be identified. The primary study objective was to determine the individual recurrence risk among children with a first non‐central‐venous‐catheter‐associated VTE with respect to their thrombophilia status and to evaluate if the clinical presentation at first VTE onset differs between children with AT, PC or PS deficiency versus no thrombophilia. We calculated the absolute risk of VTE recurrence and event‐free‐survival adjusted for thrombophilia, age, sex and positive family VTE history in 161 consecutively enrolled paediatric VTE patients. The presence of a deficiency relative to no thrombophilia was evaluated as a potential predictor of recurrence. Predictors for recurrence were AT deficiency (hazard ratio/95% CI: 6·5/2·46–17·2) and female gender (2·6/1·1–6·35). The annual recurrence rates (95% CIs) were 5·4% (2·6–10) in AT‐deficient children, 1·3% (0·3–3·8) in patients with PC deficiency, 0·7% (0·08–2·4) in the PS‐deficient cohort and 0·9% (0·4–1·8) in patients with no thrombophilia. Positive family VTE history or combined thrombophilias did not predict recurrence. Given the overall annual incidence rate of recurrence of 1·5% we suggest screening for AT deficiency in children with VTE. 相似文献
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