المؤلفون: Martin Olivieri, Anna-Lisa Sorg, Raphael Weinberger, Karin Kurnik, Christoph Bidlingmaier, Sabrina Juranek, Florian Hoffmann, Karl Reiter, Michaela Bonfert, Moritz Tacke, Ingo Borggraefe, Florian Heinen, Lucia Gerstl

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Medicine, Science

الوصف: Abstract Childhood arterial ischemic stroke (CAIS) is a rare event. Diverse etiologies, risk factors, symptoms and stroke mimics hamper obtaining a fast diagnosis and implementing immediate recanalization strategies. Over a period of 3 years (2015–2017), the data of 164 pediatric patients (> 28 days of life-18 years) with a first episode of AIS were submitted to a hospital-based nationwide surveillance system for rare disorders (ESPED). We report a subgroup analysis of patients who have undergone recanalization therapy and compare these data with those of the whole group. Twenty-eight patients (17%) with a median age of 12.2 years (range 3.3–16.9) received recanalization therapy. Hemiparesis, facial weakness and speech disturbance were the main presenting symptoms. The time from onset of symptoms to confirmation of diagnosis was significantly shorter in the intervention group (4.1 h vs. 20.4 h, p ≤ 0.0001). Only in one patient occurred a minor bleed. Cardiac disease as predisposing risk factor was more common in the recanalization group. Recanalization therapies are feasible and increasingly applied in children with AIS. High awareness, timely diagnosis and a large amount of expertise may improve time to treatment and make hyperacute therapy an option for more patients.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/21c477051612449eb47783ccb484dd56Test

المؤلفون: Christoph Male, Nadine G. Andersson, Anne Rafowicz, Ri Liesner, Karin Kurnik, Kathelijn Fischer, Helen Platokouki, Elena Santagostino, Hervé Chambost, Beatrice Nolan, Christoph Königs, Gili Kenet, Rolf Ljung, Marijke van den Berg, PedNet study group

المصدر: Haematologica, Vol 106, Iss 1 (2020)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

الوصف: The incidence of FIX inhibitors in severe hemophilia B (SHB) is not well defined. Frequencies of 3-5% have been reported but most studies to date were small, including patients with different severities, and without prospective follow-up for inhibitor incidence. Study objective was to investigate inhibitor incidence in patients with SHB followed up to 500 exposure days (ED), the frequency of allergic reactions, and the relationship with genotypes. Consecutive previously untreated patients (PUPs) with SHB enrolled into the PedNet cohort were included. Detailed data was collected for the first 50 ED, followed by annual collection of inhibitor status and allergic reactions. Presence of inhibitors was defined by at least two consecutive positive samples. Additionally, data on factor IX gene mutation was collected. 154 PUPs with SHB were included; 75% were followed until 75 ED, and 43% until 500 ED. Inhibitors developed in 14 patients (7 high-titre). Median number of ED at inhibitor manifestation was 11 (IQR 6.5-36.5). Cumulative inhibitor incidence was 9.3% (95%CI 4.4-14.1) at 75 ED, and 10.2% (5.1-15.3) at 500 ED. Allergic reactions occurred in 4 (28.6%) inhibitor patients. Missense mutations were most frequent (46.8%) overall but not associated with inhibitors. Nonsense mutations and deletions with large structural changes comprised all mutations among inhibitor patients and were associated with an inhibitor risk of 26.9% and 33.3%, respectively. In an unselected, well-defined cohort of PUPs with SHB, cumulative inhibitor incidence was 10.2% at 500 ED. Nonsense mutations and large deletions were strongly associated with the risk of inhibitor development. The PedNet Registry is registered at clinicaltrials.gov; identifier: NCT02979119

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/9593Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/ffae13c2f6ad42f4ad673b17a83bc52aTest

المؤلفون: Martin Olivieri MD, Karin Kurnik MD, Florian Heinen MD, Irene Schmid MD, Florian Hoffmann MD, Karl Reiter MD, Lucia Gerstl MD

المصدر: Global Pediatric Health, Vol 3 (2016)

مصطلحات موضوعية: Pediatrics, RJ1-570

الوصف: Introduction: Acute ischemic stroke (AIS) is a rare event in infancy. Besides vasculopathy, thrombophilia, or cardiac disorders, cancer and chemotherapy are known predisposing factors for AIS. Leukemia can be associated with different abnormal coagulation parameters, but severe bleeding or thrombosis occurs rarely. Clinical Course: We report the case of a 2-year-old boy who was presented to our emergency ward after a prolonged seizure with right sided postictal hemiparesis. Cranial computed tomography scan revealed a large infarction and edema due to thrombosis of the left carotid artery, the middle cerebral artery, and the anterior cerebral artery. Laboratory workup showed 196 g/L leukocytes with 75% myeloid blast cells. Immediate exchange transfusion, hydration, and chemotherapy with cytarabine were started. During the hospital course intracranial pressure increased and the patient developed a unilateral dilated pupil unresponsive to light. Cranial computed tomography scan revealed a new infarction in the right middle cerebral artery territory. Refractory increased intracranial pressure and brain stem herniation developed, and the child died 3 days after admission to hospital. Conclusion: Seizures with postictal hemiparesis due to cerebral infarction can be a rare manifestation of acute myeloid leukemia. Leukocytosis and cancer-induced coagulopathy are main reasons for thrombosis and/or hemorrhage. High leukocyte counts need immediate interventions with hydration, careful chemotherapy, and perhaps exchange transfusion or leukapharesis. In the presence of thrombosis, anticoagulation must be discussed despite the risk of bleeding due to hyperfibrinolysis and low platelet counts. Mortality may be reduced by awareness of this rare presentation of leukemia and prompt institution of leucoreductive treatment.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2333-794XTest

الوصول الحر: https://doaj.org/article/0f27fc1ffca24979a98bee25ff76b760Test

المؤلفون: Axel Seuser, Karin Kurnik, Anne-Katrin Mahlein

المصدر: Sensors, Vol 18, Iss 2, p 518 (2018)

مصطلحات موضوعية: hemophilia, infrared thermography, non-invasive, silent bleeds, hot-spot, Chemical technology, TP1-1185

الوصف: Recurrent joint bleeds and silent bleeds are the most common clinical feature in patients with hemophilia. Every bleed causes an immediate inflammatory response and is the leading cause of chronic crippling arthropathy. With the help of infrared thermography we wanted to detect early differences between a group of clinical non-symptomatic children with hemophilia (CWH) with no history of clinically detected joint bleeds and a healthy age-matched group of children. This could help to discover early inflammation and help implement early treatment and preventative strategies. It could be demonstrated that infrared thermography is sensitive enough to detect more signs of early inflammatory response in the CWH than in healthy children. It seems to detect more side differences in temperature than clinical examination of silent symptoms detects tender points. Silent symptoms/tender points seem to be combined with early local inflammation. Using such a non-invasive and sensor-based early detection, prevention of overloading and bleeding might be achieved.

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/1424-8220/18/2/518Test; https://doaj.org/toc/1424-8220Test

الوصول الحر: https://doaj.org/article/5f23a828a82a4e8795151115ea58b8f3Test

المؤلفون: Annelies Nijdam, Carmen Altisent, Manuel D. Carcao, Ana R. Cid, Ségolène Claeyssens-Donadel, Karin Kurnik, Rolf Ljung, Beatrice Nolan, Pia Petrini, Helen Platokouki, Anne Rafowicz, Angela E. Thomas, Kathelijn Fischer

المصدر: Haematologica, Vol 100, Iss 3 (2015)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/7323Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/0fc9dbf7563d408181989c0343f7738bTest

المؤلفون: Mathias Orban, Alexander Goedel, Jessica Haas, Kirstin Sandrock-Lang, Florian Gärtner, Christian Billy Jung, Barbara Zieger, Elvira Parrotta, Karin Kurnik, Daniel Sinnecker, Gerhard Wanner, Karl-Ludwig Laugwitz, Steffen Massberg, Alessandra Moretti

المصدر: PLoS ONE, Vol 10, Iss 1, p e0115978 (2015)

مصطلحات موضوعية: Medicine, Science

الوصف: Human induced pluripotent stem cells (hiPSCs) represent a versatile tool to model genetic diseases and are a potential source for cell transfusion therapies. However, it remains elusive to which extent patient-specific hiPSC-derived cells functionally resemble their native counterparts. Here, we generated a hiPSC model of the primary platelet disease Glanzmann thrombasthenia (GT), characterized by dysfunction of the integrin receptor GPIIbIIIa, and compared side-by-side healthy and diseased hiPSC-derived platelets with peripheral blood platelets. Both GT-hiPSC-derived platelets and their peripheral blood equivalents showed absence of membrane expression of GPIIbIIIa, a reduction of PAC-1 binding, surface spreading and adherence to fibrinogen. We demonstrated that GT-hiPSC-derived platelets recapitulate molecular and functional aspects of the disease and show comparable behavior to their native counterparts encouraging the further use of hiPSC-based disease models as well as the transition towards a clinical application.

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4301811?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/42e6caf4c10b4525940b5760c90e00bcTest

المؤلفون: Karin Kurnik, Wolfhart Kreuz, Sylvia Horneff, Christine Düring, Rosemarie Schobess, Christoph Bidlingmaier, Carmen Escuriola Ettingshausen, Anne Krümpel, Nadia Bogdanova, Ulrike Nowak-Göttl

المصدر: Haematologica, Vol 92, Iss 7 (2007)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

الوصف: The present multicenter cohort study of 107 pediatric PUPs was performed to determine whether the concomitant inheritance of the factor (F) V G1691A or the F II G20210A mutation influences the clinical expression of severe hemophilia A (HA). Carriers of the FV and FII mutations had a significantly lower annual bleeding frequency (ABF) than non-carriers (p=0.012). Joint damage (Pettersson score) was significantly less severe in patients with thrombophilia (p=0.022). A protective effect of thrombophilic risk factors was shown for ABF (OR [CIs]: 0.7[0.5–0.9]; p=0.02) and the severity of the hemophilic arthropathy (OR [CIs]: 0.06[0.01–0.3]; p=0.0009).

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/4516Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/90d90ab52b3f4a3ba5bbad9c87878ffaTest

المؤلفون: Alfonso Iorio, Andrea N. Edginton, Sylvia von Mackensen, Elisabeth Schmit, Karin Kurnik, M. Stemberger, Cindy H. T. Yeung, Felix Kallenbach, Federico Germini, Alanna McEneny-King

مصطلحات موضوعية: Hematology

الوصف: Background Performing individual pharmacokinetics (PK) studies in clinical practice can be simplified by adopting population PK-based profiling on limited post-infusion samples. The objective of this study was to assess the impact of population PK in tailoring prophylaxis in patients with haemophilia A. Patients and Methods Individual weekly treatment plans were developed considering predicted plasma factor activity levels and patients' lifestyle. Patients were trained using a visual traffic-light scheme to help modulate their level of physical activity with respect to factor infusions timing. Annualized joint bleeding rate (ABJR), haemophilia-specific quality of life questionnaire for adults (Haemo-QoL-A) and factor utilization were measured for 12 months before and after tailoring, compared within patients and analysed separately for those previously on prophylaxis (P), situational prophylaxis (SP) or on-demand (OD). Results Sixteen patients previously on P, 10 on SP and 10 on OD were enrolled in the study. The median (lower, upper quartile) ABJR changed from 2.0 (0, 4.0) to 0 (0, 1.6) for P (p = 0.003), from 2.0 (2.0, 13.6) to 3.0 (1.4, 7.2) for SP (p = 0.183) and from 16.0 (13.0, 25.0) to 2.3 (0, 5.0) for OD (p = 0.003). The Haemo-QoL-A total score improved for 58% of P, 50% of SP and 29% of OD patients. Factor utilization (IU/kg/patient/year) increased by 2,400 (121; 2,586) for P, 1,052 (308; 1,578) for SP and 2,086 (1,498; 2,576) for OD. One of 138 measurements demonstrated a factor activity level below the critical threshold of 0.03 IU/mL while the predicted level was above the threshold. Conclusion Implementing tailored prophylaxis using a Bayesian forecasting approach in a routine clinical practice setting may improve haemophilia clinical outcomes.

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/93007Test

الإتاحة: https://doi.org/10.1055/s-0039-1677700Test
https://www.openaccessrepository.it/record/93007Test

المؤلفون: Agnes, Berghuber, Christoph, Bidlingmaier, Maike, Marx, Stephanie, Lardschneider, Benjamin, Nast-Kolb, Martin, Olivieri, Sabrina, Juranek, Lieftüchter, Victoria, Sylvia, von Mackensen, Karin, Kurnik, Michaela, Bonfert

المصدر: 52. Hamburger Hämophilie Symposion ; Hämostaseologie ; ISSN 2567-5761

الإتاحة: https://doi.org/10.1055/s-0042-1758491Test

المؤلفون: Bruno Neuner, Sylvia von Mackensen, Susanne Holzhauer, Stephanie Funk, Robert Klamroth, Karin Kurnik, Anne Krümpel, Susan Halimeh, Sarah Reinke, Michael Frühwald, Ulrike Nowak-Göttl

المصدر: BioMed Research International, Vol 2016 (2016)

مصطلحات موضوعية: Medicine

الوصف: Objectives. To investigate self-reported health-related quality of life (HrQoL) in children and adolescents with chronic medical conditions compared with siblings/peers. Methods. Group 1 (6 treatment centers) consisted of 74 children/adolescents aged 8–16 years with hereditary bleeding disorders (HBD), 12 siblings, and 34 peers. Group 2 (one treatment center) consisted of 70 children/adolescents with stroke/transient ischemic attack, 14 siblings, and 72 peers. HrQoL was assessed with the “revised KINDer Lebensqualitätsfragebogen” (KINDL-R) questionnaire. Multivariate analyses within groups were done by one-way ANOVA and post hoc pairwise single comparisons by Student’s t-tests. Adjusted pairwise comparisons were done by hierarchical linear regressions with individuals nested within treatment centers (group 1) and by linear regressions (group 2), respectively. Results. No differences were found in multivariate analyses of self-reported HrQoL in group 1, while in group 2 differences occurred in overall wellbeing and all subdimensions. These differences were due to differences between patients and peers. After adjusting for age, gender, number of siblings, and treatment center these differences persisted regarding self-worth (p=.0040) and friend-related wellbeing (p<.001). Conclusions. In children with HBD, HrQoL was comparable to siblings and peers. In children with stroke/TIA HrQoL was comparable to siblings while peers, independently of relevant confounder, showed better self-worth and friend-related wellbeing.

العلاقة: http://dx.doi.org/10.1155/2016/1579428Test; https://doaj.org/toc/2314-6133Test; https://doaj.org/toc/2314-6141Test; https://doaj.org/article/4e967cccbd8748a7914fa73bc2e053d2Test

الإتاحة: https://doi.org/10.1155/2016/1579428Test
https://doaj.org/article/4e967cccbd8748a7914fa73bc2e053d2Test