Search Results - "Glonnegger, Hannah"
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Hypercoagulopathy, acquired coagulation disorders and anticoagulation before, during and after extracorporeal membrane oxygenation in COVID-19: a case series
Published in Perfusion (01-09-2021)“…Background: Thromboembolism and bleeding contribute to Coronavirus disease 2019 (COVID-19)’s morbidity and mortality and are also frequent complications of…”
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The Multiple Object Test as a performance-based tool to assess the decline of ADL function in Parkinson's disease
Published in PloS one (01-08-2018)“…As cognitive-driven worsening of activities of the daily living (ADL) in Parkinson's disease (PD) is the core feature of PD dementia (PDD), there is great need…”
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Emicizumab in children: bleeding episodes and outcome before and after transition to Emicizumab
Published in BMC pediatrics (15-08-2022)“…Purpose Real-world data and study data regarding therapy with Emicizumab in pediatric cohorts with haemophilia A is scarce. Especially, data on previously…”
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Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the ITGA2B Gene
Published in Diseases (01-07-2024)“…Glanzmann Thrombasthenia (GT) is an inherited platelet disorder caused by defects in platelet integrin α β (GPIIb/IIIa), which is a platelet receptor essential…”
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Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3 , HPS5, and DTNBP1 (HPS-7)
Published in Frontiers in pharmacology (19-01-2022)“…Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis…”
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Prepartum Anemia and Risk of Postpartum Hemorrhage: A Meta-Analysis and Brief Review
Published in Clinical and applied thrombosis/hemostasis (01-01-2023)“…Postpartum hemorrhage (PPH) is responsible for 30% to 50% of maternal deaths. There is conflicting evidence if prepartum anemia facilitates PPH. A…”
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Comprehensive Analyses of Coagulation Parameters in Patients with Vascular Anomalies
Published in Biomolecules (Basel, Switzerland) (01-12-2022)“…Vascular anomalies comprise a diverse group of rare diseases with altered blood flow and are often associated with coagulation disorders. The most common…”
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A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger
Published in Cells (Basel, Switzerland) (01-10-2022)“…The GATA1 transcription factor is essential for normal erythropoiesis and megakaryocytic differentiation. Germline GATA1 pathogenic variants in the N-terminal…”
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Case Report: Hepatic Adenoma in a Child With a Congenital Extrahepatic Portosystemic Shunt
Published in Frontiers in pediatrics (25-08-2020)“…Congenital extrahepatic portosystemic shunts (CEPS), previously also described as Abernethy malformations, are rare malformations in which the extrahepatic…”
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Acquired von Willebrand Syndrome and Desmopressin Resistance During Venovenous Extracorporeal Membrane Oxygenation in Patients With COVID-19: A Prospective Observational Study
Published in Critical care medicine (01-08-2022)“…Although COVID-19 is associated with high von Willebrand factor (vWF) parameters promoting thrombosis, venovenous extracorporeal membrane oxygenation (vvECMO)…”
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Acquired von Willebrand Syndrome in Children
Published in Hamostaseologie (01-04-2022)“…Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder caused by various underlying diseases or conditions and should be distinguished from the…”
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Pathogenic Aspects of Inherited Platelet Disorders
Published in Hamostaseologie (01-12-2021)“…Inherited platelet disorders (IPDs) constitute a large heterogeneous group of rare bleeding disorders. These are classified into: (1) quantitative defects, (2)…”
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Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect
Published in Thrombosis and haemostasis (01-07-2022)“…The gene encodes an enzyme that initiates and regulates the biosynthesis of -acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically…”
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Laboratory Findings, Medical Imaging, and Clinical Outcome in Children with Cerebral Sinus Venous Thrombosis
Published in Hamostaseologie (01-06-2023)“…Cerebral sinus venous thrombosis (CSVT) is a rare disease, especially in children. Therefore, thrombophilia markers, risk factors, treatment strategy, and MRI,…”
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Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding Defect
Published in Hamostaseologie (01-04-2023)“…Von Willebrand disease (VWD) is the most prevalent congenital bleeding disorder. Diagnosis and classification of VWD is complex due to its heterogeneity…”
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Successful Secondary Endovascular Intervention in Pediatric Patients with Venous Thromboembolic Events
Published in Hamostaseologie (01-04-2023)“…In the past, pediatric patients with venous thromboembolic events (VTE) were treated with low-molecular-weight heparin (LMWH) which was successful in around…”
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The Multiple Object Test as a Performance Based Tool to Assess Cognitive Driven Activity of Daily Living Function in Parkinson's Disease
Published in Journal of Alzheimer's disease (08-08-2016)“…There is need for multidimensional quantitative assessment of cognitive driven activities of daily living (ADL) functions in Parkinson's disease (PD). To…”
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Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia
Published in Hamostaseologie (01-12-2021)“…Here, we report about a preterm female newborn with a prolonged course of severe thrombocytopenia and hematomas. The family history was positive for von…”
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Case Report: Hepatic Adenoma in a Child With a Congenital Extrahepatic Portosystemic Shunt
Published in Frontiers in pediatrics (01-01-2020)Get full text
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