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  • 1
    Online Resource
    Online Resource
    Data_Sheet_1.ZIP
    Frontiers Media SA ; 2020
    In:  Frontiers in Pediatrics Vol. 8 ( 2020-8-25)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 8 ( 2020-8-25)
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    URL: Article
    DOI: 10.3389/fped.2020.00501
    DOI: 10.3389/fped.2020.00501.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2711999-3
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  • 2
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    Acquired von Willebrand Syndrome in Children
    Georg Thieme Verlag KG ; 2022
    In:  Hämostaseologie Vol. 42, No. 02 ( 2022-04), p. 117-122
    Details
    In: Hämostaseologie, Georg Thieme Verlag KG, Vol. 42, No. 02 ( 2022-04), p. 117-122
    Abstract: Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder caused by various underlying diseases or conditions and should be distinguished from the inherited type of von Willebrand disease. AVWS is associated with underlying diseases such as cardiovascular, autoimmune, malignant, proliferative disorders, or with mechanical circulatory support (MCS). AVWS was first reported in 1968 and most case reports describe AVWS in adults. However, AVWS can appear in pediatric patients occasionally as well. Because bleeding complications are rare in everyday life, AVWS may be underdiagnosed in pediatric patients. Therefore, the diagnosis should be suspected in a pediatric patient who is known for one of these underlying diseases or conditions and who presents with an onset of bleeding symptoms, especially before the child will undergo an invasive procedure. Here, we present an overview of the diagnostic analyses regarding AVWS and of the underlying diseases or conditions in which AVWS should be considered. Importantly, the patient's history should be investigated for bleeding symptoms (mucocutaneous or postoperative bleeding). As no single routine coagulation test can reliably confirm or exclude AVWS, the diagnosis may be challenging. Laboratory investigations should include analysis of von Willebrand factor (VWF):antigen, VWF:collagen-binding capacity, VWF:activity, and VWF multimeric analyses. For treatment, tranexamic acid, 1-desamino-8-D-arginine vasopressin, and VWF-containing concentrate can be used. AVWS disappears after the underlying disease has been successfully treated or the MCS has been explanted.
    Type of Medium: Online Resource
    ISSN: 0720-9355 , 2567-5761
    URL: Article
    DOI: 10.1055/a-1790-6156
    Language: English
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2022
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  • 3
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    Online Resource
    Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect
    Georg Thieme Verlag KG ; 2022
    In:  Thrombosis and Haemostasis Vol. 122, No. 07 ( 2022-07), p. 1139-1146
    Details
    In: Thrombosis and Haemostasis, Georg Thieme Verlag KG, Vol. 122, No. 07 ( 2022-07), p. 1139-1146
    Abstract: The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and autosomal dominant inheritance pattern. Reports show that single GNE variants cause severe thrombocytopenia without muscle weakness. Using panel sequencing, we identified two novel compound heterozygous variants in GNE in a young girl with life-threatening bleedings, severe congenital thrombocytopenia, and a platelet secretion defect. Both variants are located in the nucleotide-binding site of the N-acetylmannosamin kinase domain of GNE. Lectin array showed decreased α-2,3-sialylation on platelets, consistent with loss of sialic acid synthesis and indicative of rapid platelet clearance. Hematopoietic stem cell transplantation (HSCT) normalized platelet counts. This is the first report of an HSCT in a patient with an inherited GNE defect leading to normal platelet counts.
    Type of Medium: Online Resource
    ISSN: 0340-6245 , 2567-689X
    URL: Article
    DOI: 10.1055/s-0041-1742207
    Language: English
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2022
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  • 4
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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
    Ovid Technologies (Wolters Kluwer Health) ; 2022
    In:  Critical Care Medicine Vol. 50, No. 8 ( 2022-08), p. 1246-1255
    Details
    In: Critical Care Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 50, No. 8 ( 2022-08), p. 1246-1255
    Abstract: Although COVID-19 is associated with high von Willebrand factor (vWF) parameters promoting thrombosis, venovenous extracorporeal membrane oxygenation (vvECMO) is associated with the development of acquired von Willebrand syndrome (AVWS) promoting bleeding. This study was designed to assess both the incidence and severity of AVWS in COVID-19 patients undergoing vvECMO, and the benefit of comprehensive vWF analyses. DESIGN: Prospective observational study. SETTING: ICU at a tertiary-care center. PATIENTS: Twenty-seven consecutive COVID-19 patients with acute respiratory distress syndrome (ARDS) requiring vvECMO. MEASUREMENTS AND MAIN RESULTS: Comprehensive vWF analyses (including sodium dodecyl-sulfate polyacrylamide gel electrophoresis) were performed before, during, and after vvECMO. In a subgroup of 12 patients with AVWS, effectiveness of treatment with desmopressin was assessed. The patients’ mean age was 53 years (range, 23–73), 70% were male, and all had various comorbidities. Following markedly elevated vwf antigen (vWF: Ag; mean, 546% ( sd , 282]), vWF collagen binding capacity (mean, 469% [ sd , 271]), vWF activity (vWF:A; mean, 383% [ sd , 132]), and factor VIII activity (mean, 302% [ sd , 106]), and only borderline decreases in high-molecular-weight (HMW) vWF multimers before vvECMO, all of these variables decreased and HMW vWF multimers became undetectable within hours following initiation of vvECMO. All variables fully recovered within 3–38 hours after discontinuation of vvECMO. During vvECMO, decreases in the vWF:A/vWF:Ag ratio correlated with absent HMW vWF multimers. Desmopressin did not affect vWF parameters. CONCLUSIONS: In patients with COVID-19-associated ARDS, AVWS developed soon after initiation of vvECMO. The vWF:A/vWF:Ag ratio was a suitable screening test for AVWS. As desmopressin was ineffective, bleeding during vvECMO-associated AVWS should preferably be treated with concentrates containing vWF.
    Type of Medium: Online Resource
    ISSN: 0090-3493
    URL: Article
    DOI: 10.1097/CCM.0000000000005467
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
    detail.hit.zdb_id: 2034247-0
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  • 5
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    Emicizumab in children: bleeding episodes and outcome before and after transition to Emicizumab
    Springer Science and Business Media LLC ; 2022
    In:  BMC Pediatrics Vol. 22, No. 1 ( 2022-08-15)
    Details
    In: BMC Pediatrics, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2022-08-15)
    Abstract: Real-world data and study data regarding therapy with Emicizumab in pediatric cohorts with haemophilia A is scarce. Especially, data on previously untreated pediatric patients (PUPs) and minimally treated patients (MTPs) are missing. Methods Thirteen pediatric patients with haemophilia A and treatment with Emicizumab were retrospectively evaluated for Annual Bleeding Rates (ABR) pre-and post-Emicizumab treatment. Safety data and data on management of minor surgery as well as laboratory results were collected. Additionally, we describe the clinical features of two PUPs and one MTP that are included in our cohort. Results Median age at initiation of Emicizumab was 5.3 (range: 0.26–17.5) years, three patients were younger than one year at initiation of treatment with Emicizumab. Median follow-up time on Emicizumab was 23.8 (range: 0.7–40) months. Total ABR ( p  = 0.009) as well as spontaneous ( p  = 0.018), traumatic ( p  = 0.018), and joint ( p  = 0.027) ABR reduced significantly post-Emicizumab transition. Safety profile was favourable as only one local site reaction occurred; no cessation of treatment was necessary. Surgery was successfully performed in three patients receiving rFVlla pre- and post-surgery. Emicizumab trough levels showed a median of 43.2 μg/ml (range: 23.9–56.8) after three doses of 3 mg/kg and 51.9 μg/ml (range: 30.4–75) at first follow-up with 1.5 mg/kg. Conclusion Emicizumab is safe and efficient in pediatric patients with and without inhibitors. More data on larger multicenter cohorts and especially on PUPs/MTPs are still needed.
    Type of Medium: Online Resource
    ISSN: 1471-2431
    URL: Article
    DOI: 10.1186/s12887-022-03546-1
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2041342-7
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  • 6
    Online Resource
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    DataSheet1.docx
    Frontiers Media SA ; 2022
    In:  Frontiers in Pharmacology Vol. 12 ( 2022-1-19)
    Details
    In: Frontiers in Pharmacology, Frontiers Media SA, Vol. 12 ( 2022-1-19)
    Abstract: Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestingly, patients with HPS type 2 (HPS-2) or HPS type 10 (HPS-10) present additionally with an immunological defect. We investigated three patients (IP1, IP2, and IP3) who suffer from a bleeding diathesis. Platelet aggregometry showed impaired platelet function and flow cytometry revealed a severely reduced platelet CD63 expression hinting to either a defect of platelet delta granule secretion or a decreased number of delta granules in these patients. However, only IP3 presents with an apparent OCA. We performed panel sequencing and identified a homozygous deletion of exon 6 in DTNBP1 for IP3 . Western analysis confirmed the absence of the encoded protein dysbindin confirming the diagnosis of HPS-7. Interestingly, this patient reported additionally recurrent bacterial infections. Analysis of lymphocyte cytotoxicity showed a slightly reduced NK-degranulation previously documented in a more severe form in patients with HPS-2 or HPS-10. IP1 is carrier of two compound heterozygous variants in the HPS3 gene (c.65C & gt; G and c.1193G & gt; A). A homozygous variant in HPS5 (c.760G & gt; T) was identified in IP2. The novel missense variants were classified as VUS (variant of uncertain significance) according to ACMG guidelines. For IP1 with the compound heterozygous variants in HPS3 a specialized ophthalmological examination showed ocular albinism. HPS3 and HPS5 encode subunits of the BLOC-2 complex and patients with HPS-3 or HPS-5 are known to present with variable/mild hypopigmentation.
    Type of Medium: Online Resource
    ISSN: 1663-9812
    URL: Article
    URL: Article
    DOI: 10.3389/fphar.2021.786937
    DOI: 10.3389/fphar.2021.786937.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2587355-6
    SSG: 15,3
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  • 7
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    Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding Defect
    Georg Thieme Verlag KG ; 2023
    In:  Hämostaseologie Vol. 43, No. 02 ( 2023-04), p. 122-125
    Details
    In: Hämostaseologie, Georg Thieme Verlag KG, Vol. 43, No. 02 ( 2023-04), p. 122-125
    Abstract: Von Willebrand disease (VWD) is the most prevalent congenital bleeding disorder. Diagnosis and classification of VWD is complex due to its heterogeneity regarding clinical manifestations and molecular genetic analysis. Genetic investigations became an inherent part of diagnosis and help distinguish different types/subtypes of VWD. Although many variants have been listed being causative for VWD, the genetic etiology remains undefined in a lot of patients. We report about two siblings with severely reduced values for von Willebrand factor collagen-binding activity (VWF:CB). Genetic analysis using panel sequencing identified a heterozygous non-synonymous single nucleotide variant in exon 30. At the protein level, the alteration (p.Ser1731Leu) is located in the A3 collagen-binding domain. The amino acid position is already known to be important for collagen binding because p.Ser1731Thr has been reported to affect the VWF:CB.
    Type of Medium: Online Resource
    ISSN: 0720-9355 , 2567-5761
    URL: Article
    DOI: 10.1055/a-1701-2181
    Language: English
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2023
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  • 8
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    Online Resource
    Comprehensive Analyses of Coagulation Parameters in Patients with Vascular Anomalies
    MDPI AG ; 2022
    In:  Biomolecules Vol. 12, No. 12 ( 2022-12-08), p. 1840-
    Details
    In: Biomolecules, MDPI AG, Vol. 12, No. 12 ( 2022-12-08), p. 1840-
    Abstract: Background: Vascular anomalies comprise a diverse group of rare diseases with altered blood flow and are often associated with coagulation disorders. The most common example is a localized intravascular coagulopathy in venous malformations leading to elevated D-dimers. In severe cases, this may progress to a disseminated intravascular coagulopathy with subsequent consumption of fibrinogen and thrombocytes predisposing to serious bleeding. A separate coagulopathy is the Kasabach–Merritt phenomenon in kaposiform hemangioendothelioma characterized by platelet trapping leading to thrombocytopenia and eventually consumptive coagulopathy. Our previous work showed impaired von Willebrand factor and platelet aggregometry due to abnormal blood flow, i.e., in ventricular assist devices or extracorporeal membrane oxygenation. With altered blood flow also present in vascular anomalies, we hypothesized that, in particular, the von Willebrand factor parameters and the platelet function may be similarly impacted. Methods: We prospectively recruited 73 patients with different vascular anomaly entities and analyzed their coagulation parameters. Results: Acquired von Willebrand syndrome was observed in both of our patients with Kasabach–Merritt phenomenon. In six out of nine patients with complex lymphatic anomalies, both the vWF antigen and activity were upregulated. Platelet aggregometry was impaired in both patients with Kasabach–Merritt phenomenon and in seven out of eight patients with an arteriovenous malformation. Conclusions: The analysis of coagulation parameters in our patients with vascular anomalies advanced our understanding of the underlying pathophysiologies of the observed coagulopathies. This may lead to new treatment options for the, in part, life-threatening bleeding risks in these patients in the future.
    Type of Medium: Online Resource
    ISSN: 2218-273X
    URL: Article
    DOI: 10.3390/biom12121840
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2701262-1
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  • 9
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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
    MDPI AG ; 2022
    In:  Cells Vol. 11, No. 20 ( 2022-10-14), p. 3223-
    Details
    In: Cells, MDPI AG, Vol. 11, No. 20 ( 2022-10-14), p. 3223-
    Abstract: The GATA1 transcription factor is essential for normal erythropoiesis and megakaryocytic differentiation. Germline GATA1 pathogenic variants in the N-terminal zinc finger (N-ZF) are typically associated with X-linked thrombocytopenia, platelet dysfunction, and dyserythropoietic anemia. A few variants in the C-terminal ZF (C-ZF) domain are described with normal platelet count but altered platelet function as the main characteristic. Independently performed molecular genetic analysis identified a novel hemizygous variant (c.865C 〉 T, p.H289Y) in the C-ZF region of GATA1 in a German patient and in a Spanish patient. We characterized the bleeding and platelet phenotype of these patients and compared these findings with the parameters of two German siblings carrying the likely pathogenic variant p.D218N in the GATA1 N-ZF domain. The main difference was profound thrombocytopenia in the brothers carrying the p.D218N variant compared to a normal platelet count in patients carrying the p.H289Y variant; only the Spanish patient occasionally developed mild thrombocytopenia. A functional platelet defect affecting αIIbβ3 integrin activation and α-granule secretion was present in all patients. Additionally, mild anemia, anisocytosis, and poikilocytosis were observed in the patients with the C-ZF variant. Our data support the concept that GATA1 variants located in the different ZF regions can lead to clinically diverse manifestations.
    Type of Medium: Online Resource
    ISSN: 2073-4409
    URL: Article
    DOI: 10.3390/cells11203223
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2661518-6
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  • 10
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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
    IOS Press ; 2016
    In:  Journal of Alzheimer's Disease Vol. 53, No. 4 ( 2016-08-08), p. 1475-1484
    Details
    In: Journal of Alzheimer's Disease, IOS Press, Vol. 53, No. 4 ( 2016-08-08), p. 1475-1484
    Type of Medium: Online Resource
    ISSN: 1387-2877 , 1875-8908
    URL: Article
    DOI: 10.3233/JAD-160173
    Language: Unknown
    Publisher: IOS Press
    Publication Date: 2016
    detail.hit.zdb_id: 2070772-1
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