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  • 1
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    Capnometry during neonatal transport—Mini review
    Wiley ; 2023
    In:  Acta Paediatrica Vol. 112, No. 5 ( 2023-05), p. 919-923
    Details
    In: Acta Paediatrica, Wiley, Vol. 112, No. 5 ( 2023-05), p. 919-923
    Kurzfassung: The aim of this review was to give an overview of available data on end‐tidal CO 2 (etCO 2 ) monitoring, also called capnometry, during neonatal transport. Methods Pubmed/MEDLINE database was searched using research question (capno* OR etCO2 OR detCO2 OR ([‘end tidal’ OR ‘end‐tidal’] AND [CO2 OR ‘carbon dioxide’] ) AND (neonat* OR infant* OR newborn*) AND transport*). All articles relevant to the topic were reviewed and summarised. Results The lack of studies relevant to neonatal transport prompted us to extend the search to capnometry in a neonatal intensive care setting. The published studies are showing conflicting results. The different study populations, technologies used to measure etCO 2 , types of etCO 2 sampling and the diverse sites of blood gas tests make the data unsuitable for systematic comparison. Conclusion Further research to obtain more data on capnometry during neonatal transport will be necessary to define precisely under what circumstances can end‐tidal monitoring of CO 2 be reliably used in neonates during transport and also how to interpret the measured values.
    Materialart: Online-Ressource
    ISSN: 0803-5253 , 1651-2227
    URL: Issue
    URL: Article
    DOI: 10.1111/apa.v112.5
    DOI: 10.1111/apa.16729
    Sprache: Englisch
    Verlag: Wiley
    Publikationsdatum: 2023
    ZDB Id: 1492629-5
    ZDB Id: 1501466-6
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  • 2
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    Composition of Cellular Subsets by Flow Cytometry Identifies Differences Between MDS Subtypes and Aplastic Anemia but No Differences Are Identified Between Cases with and without Monosomy 7.
    American Society of Hematology ; 2009
    In:  Blood Vol. 114, No. 22 ( 2009-11-20), p. 3802-3802
    Details
    In: Blood, American Society of Hematology, Vol. 114, No. 22 ( 2009-11-20), p. 3802-3802
    Kurzfassung: Abstract 3802 Poster Board III-738 Introduction Monosomy 7 or del(7q) are frequent cytogenetic abnormalities in children with myelodysplastic syndrome (MDS) and associates with poor prognosis. MDS globally affects all cellular subsets in bone marrow and in peripheral blood. We asked whether flow cytometry (FC) can separate individual subtypes of MDS from each other and from aplastic anemia (SAA) and whether in individual subtypes of childhood MDS can separate patients with and without monosomy 7. Patients/analyzed parameters In total we analyzed 94 children with centrally analyzed immunophenotype in the reference lab who were diagnosed and treated for MDS or SAA between 1998 and 2009. In total we analyzed 14 patients with refractory cytopenia, 37 patients with advanced forms of MDS (JMML 10, RAEB 25, CMML 2) and 43 patients with SAA. Monosomy 7/del(7q) was present in 17 patients (RC 6, JMML 3, RAEB 8). Analyzed parameters were as follows: B cells, CD10+CD19+, CD19+45dim/neg, CD19+34+, CD19/CD34 ratio, CD34+, CD117 cells, CD34+38dim/neg, CD3+, CD3+4+, CD3+8+, CD3+HLADR+. Statistics We analyzed all parameters using non parametric tests (Mann-Whitney, Kruskal Wallis) and principal component analysis (PCA). Results Principal component analysis of all analyzed patients together clearly separates advanced forms of MDS from RC and SAA, the most contributing factor being the number of CD34 and CD117+ cells. In non parametric statistics following factors significantly differ among MDS subtypes and SAA (Kruskal-Wallis): CD19, CD117, CD34, CD3, CD3+4+, CD8+ and CD3+HLADR+. RC and SAA patients are separated mainly by the number of B cells and the CD34:CD19 ratio. In addition, the following parameters differ between RC and SAA (Mann-Whitney): CD34, CD117 and CD3+HLADR+. Unlike the CD34:CD19 ratio, the number of CD19+34+ precursors does not differ between RC and SAA patients. Patients with monosomy 7 do not differ from the remaining patients when all MDS patients are analyzed together or separately in the respective subgroups (RC, non RC, JMML) by PCA or by non parametric statistics. Conclusion PCA separates advanced MDS forms from RC and SAA. Advanced forms of MDS are characterized by increased percentage of CD34+ and CD117+ cells compared to RC and SAA patients. The global reduction of B cell progenitor compartment is pronounced especially in non-JMML cases of MDS, whereas SAA patients typically present with isolated reduction of cells at early stages (CD19+34+) of B cell development. Patients with monosomy 7 cluster within the respective disease category, they do not form own cluster in PCA. Supported by MSMT VZ MSM0021620813, MZO 00064203 VZ FNM, MZO VFN2005, IGA NR/9531-3, NPV 2B06064. Disclosures: No relevant conflicts of interest to declare.
    Materialart: Online-Ressource
    ISSN: 0006-4971 , 1528-0020
    URL: Article
    DOI: 10.1182/blood.V114.22.3802.3802
    RVK:
    XA 33000
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: American Society of Hematology
    Publikationsdatum: 2009
    ZDB Id: 1468538-3
    ZDB Id: 80069-7
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  • 3
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    Changes Identified by Flow Cytometry and WT1 Expression in Consecutive Bone Marrow Samples in Refractory Cytopenia of Childhood and Aplastic Anemia Before Start of the Therapy
    American Society of Hematology ; 2011
    In:  Blood Vol. 118, No. 21 ( 2011-11-18), p. 1342-1342
    Details
    In: Blood, American Society of Hematology, Vol. 118, No. 21 ( 2011-11-18), p. 1342-1342
    Kurzfassung: Abstract 1342 Introduction. Aplastic anemia (AA) and myelodysplastic syndrome (MDS) are rare diseases in childhood. The most common subtype of MDS is refractory cytopenia (RC). Both diseases typically exhibit with overlapping features and in both disorders dysregulation of immune system variably contributes to the degree of bone marrow (BM) failure. In the diagnostic algorithm plays role also analysis of consecutive BM samples by morphology. Patients and methods. Patients diagnosed between 2005 – 2011 with at least two BM samples analyzed by flow cytometry (FC) before treatment has started and with centrally evaluated BM biopsy according to EWOG MDS criteria were included into the study. We compared first and the last available sample before treatment (immunosupression or stem cell transplantation). By FC we analyzed following parameters: cell subsets (granulocytes, monocytes, lymphoid cells, erythroid precursors), BM precursors (CD34pos, CD117pos), T cells (CD3pos, CD3pos4pos, CD3pos8pos, CD3posHLA DRpos out of all cells, HLA DRpos out of CD3pos/CD3pos4pos/CD3pos8pos cells); B cells (CD19pos, CD19pos10pos, CD19pos45dim to neg, CD19pos34posout of all cells, CD10pos and CD20pos10neg out of CD19pos). In total 22 patients with AA (12 girls, 10 boys, mean age 11 years; 1.1–18 years) and 20 patients with RC (11 girls, 9 boys, mean age 11 years; 3.7–18) were included into the study. Median of time interval between both samples was 139 (1–1343) days in RC and 15 (1–56) days in AA. WT1 expression on mRNA level was analyzed in the sample before treatment with the highest number of CD34pos precursors to avoid blood contamination. All patients were screened by FISH for changes on chromosome 7 and 8. We asked following questions: Are there differences in the parameters in both bone marrow samples between SAA and RC? Is there any different pattern between d0 and before therapy sample between AA and RC? Are there any differences in WT1 expression between AA and RC group? Results. RC and AA significantly differ in both time points. AA patients have significantly decreased precursors (CD34, CD117); the difference is more pronounced at the later time point. More lymphocytes (both B and T) and less granulocytes are present at later time point in AA patients (p 〈 0.05, Mann-Whitney test). Activation of CD8 cytotoxic T cells according to HLA DR expression is more distinct in AA patients at later time point. The most significant different parameter between RC and AA is a ratio CD19/CD34 also with the significant trend between two time points (Two way ANOVA, p 〈 0.05). WT1 expression is statistically higher in RC patients; the higher expression is associated with presence of monosomy 7. Conclusion. By FC statistical differences can be identified in both samples (d0 and before treatment) between RC and AA. More pronounced differences are at later time point, which can be explained by further destruction of precursor and myeloid compartment more pronounced in AA patients compared to RC. WT1 expression is typically high in patients with RC and monosomy 7. Disclosures: No relevant conflicts of interest to declare.
    Materialart: Online-Ressource
    ISSN: 0006-4971 , 1528-0020
    URL: Article
    DOI: 10.1182/blood.V118.21.1342.1342
    RVK:
    XA 33000
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: American Society of Hematology
    Publikationsdatum: 2011
    ZDB Id: 1468538-3
    ZDB Id: 80069-7
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  • 4
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    Defect in B Cell Production Driven By GATA2 Mutation Results in Their Absolute Reduction and Mature Phenotype in Pediatric Patients
    American Society of Hematology ; 2014
    In:  Blood Vol. 124, No. 21 ( 2014-12-06), p. 2746-2746
    Details
    In: Blood, American Society of Hematology, Vol. 124, No. 21 ( 2014-12-06), p. 2746-2746
    Kurzfassung: Introduction Germline mutations in GATA2 were recently identified as causative for several overlapping syndromes: MonoMAC (monocytopenia, mycobacterial infections), DCML (dendritic cells, monocytes, B and NK cells deficiency), Emberger syndrome (lymphedema, sensorineural deafness, multiple warts) and familiar myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML). Of note, GATA2 mutations were also found in children and young adults with “primary” MDS. Aplastic anemia (AA) constitutes an important differential diagnosis to pediatric MDS, particularly in patients with normal cytogenetics. Because of heterogeneous phenotype of GATA2 mutated patients, defining a set of typical findings would help in their earlier identification and understanding the natural course of the disease. Therefore we aimed to analyze monocytes and lymphocyte subpopulations with the emphasis on B cell lineage by flow cytometry (FC) and polymerase chain reaction (PCR) in all pediatric patients with GATA2 mutation diagnosed in the Czech Republic. Patients and methods Eleven pediatric patients were found to harbor GATA2 mutations in the Czech Republic so far. Three mutations were intronic. There was a clear male predominance (9/11). In 7 patients the disease manifested with MDS in childhood, 2 female patients were followed for immunodeficiency and developed MDS in adulthood. One another patient was diagnosed with interstitial lung disease and chronic EBV infection. His brother, carrying the same mutation, has mild neutropenia. Bone marrow (BM) and peripheral blood (PB) samples were analyzed by FC. The level of intronRSS-Kde recombination excision circles (KREC) and T-cell receptor excision circles (TREC) for assessment of proliferation history of B and T cells was examined by PCR. The control group comprised 26 GATA2 wild-type MDS (“other MDS”) patients and 36 AA patients. Results Disturbance of B cell compartment was the most frequently observed anomaly in the patients with GATA2 mutation. We observed a decrease of absolute and relative B cell numbers in PB and BM (n=9/11). In BM there was a decrease of immature CD10pos B cells (n=10) with proportional increase of plasma cells. Peripheral blood B cell immunophenotype was shifted towards memory B cells (n=5/7). Presence of normal B cell precursors CD19pos10pos34pos in BM was observed only in 1 patient in part of follow-up samples. Atypical malignant B lymphoblasts were present in another patient, whose MDS quickly progressed to AML with a clear switch to B lymphoid phenotype. Despite significantly reduced number of B cells the levels of IgG were normal in majority of patients. Only 2 patients had IgG hypogammaglobuliemia, in one patient with chronic active EBV infection IgG hypergammaglobulinemia was present. Slightly decreased IgA level was present in 6 patients. Although B cell numbers in other MDS control patients were significantly lower compared to AA, still the decrease was less prominent in comparison with GATA2. The decrease of immature and naive B cells in patients with GATA2 mutation was reflected in very low level of KREC in PB and BM. Stored newborn dry blood spots from 4 patients were evaluated for TREC and KREC numbers. Strikingly, only one patient had negative KREC levels (the youngest patient from our cohort with MDS diagnosed at age 4). The remaining 3 patients had normal TREC and KREC levels at birth. Thus, the deterioration of de novo production of B cells occurred supposedly postnatally in most patients. Low KREC levels were also present in some patients with other MDS (n=5). Relative monocytopenia was found in 2 patients, low NK cells were present in 6 patients. T cells were mostly of naive non-activated phenotype. Conclusions Changes in B cell compartment are the most characteristic feature in patients with GATA2 mutation. Decreased number of B cells together with a shift towards mature phenotype and decreased level of KREC reflect history of substantial B cell proliferation in an environment of impaired production. This process appears to happen postnatally and resemble normal ageing process, which is accelerated due to progenitor cell impairment. Immunophenotyping is a useful tool in identifying patients for GATA2 sequencing. Supported by GAUK 802214, IGA NT/14534-3, NT/13462-4, UNCE 204012, GAČR P301/10/1877 Disclosures No relevant conflicts of interest to declare.
    Materialart: Online-Ressource
    ISSN: 0006-4971 , 1528-0020
    URL: Article
    DOI: 10.1182/blood.V124.21.2746.2746
    RVK:
    XA 33000
    RVK:
    XA 10000
    Sprache: Englisch
    Verlag: American Society of Hematology
    Publikationsdatum: 2014
    ZDB Id: 1468538-3
    ZDB Id: 80069-7
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  • 5
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    Cerebrovascular Complications of COVID-19 Disease in Children: A Single-Center Case Series
    Elsevier BV ; 2022
    In:  Pediatric Neurology Vol. 134 ( 2022-09), p. 18-24
    Details
    In: Pediatric Neurology, Elsevier BV, Vol. 134 ( 2022-09), p. 18-24
    Materialart: Online-Ressource
    ISSN: 0887-8994
    URL: Article
    DOI: 10.1016/j.pediatrneurol.2022.06.007
    Sprache: Englisch
    Verlag: Elsevier BV
    Publikationsdatum: 2022
    ZDB Id: 2014321-7
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  • 6
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    Analysis of von Willebrand Disease in the “Heart of Europe”
    Georg Thieme Verlag KG ; 2022
    In:  TH Open Vol. 06, No. 04 ( 2022-10), p. e335-e346
    Details
    In: TH Open, Georg Thieme Verlag KG, Vol. 06, No. 04 ( 2022-10), p. e335-e346
    Kurzfassung: Background von Willebrand disease (VWD) is a genetic bleeding disorder caused by defects of von Willebrand factor (VWF), quantitative (type 1 and 3) or qualitative (type 2). The laboratory phenotyping is heterogenic making diagnosis difficult. Objectives Complete laboratory analysis of VWD as an expansion of the previously reported cross-sectional family-based VWD study in the Czech Republic (BRNO-VWD) and Slovakia (BRA-VWD) under the name “Heart of Europe,” in order to improve the understanding of laboratory phenotype/genotype correlation. Patients and Methods In total, 227 suspected VWD patients were identified from historical records. Complete laboratory analysis was established using all available assays, including VWF multimers and genetic analysis. Results A total of 191 patients (from 119 families) were confirmed as having VWD. The majority was characterized as a type 1 VWD, followed by type 2. Multimeric patterns concordant with laboratory phenotypes were found in approximately 83% of all cases. A phenotype/genotype correlation was present in 84% (77% type 1, 99% type 2, and 61% type 3) of all patients. Another 45 candidate mutations (23 novel variations), not found in the initial study, could be identified (missense 75% and truncating 24%). An exon 1–3 gene deletion was identified in 14 patients where no mutation was found by direct DNA sequencing, increasing the linkage up to 92%, overall. Conclusion This study provides a cross-sectional overview of the VWD population in a part of Central Europe. It is an addition to the previously published BRNO-VWD study, and provides important data to the International Society of Thrombosis and Haemostasis/European Association for Haemophilia and Allied Disorders VWD mutation database with identification of novel causal mutations.
    Materialart: Online-Ressource
    ISSN: 2512-9465
    URL: Article
    DOI: 10.1055/s-0042-1757635
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2022
    ZDB Id: 2893939-6
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  • 7
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    Considerations for shared decision management in previously untreated patients with hemophilia A or B
    SAGE Publications ; 2023
    In:  Therapeutic Advances in Hematology Vol. 14 ( 2023-01), p. 204062072311658-
    Details
    In: Therapeutic Advances in Hematology, SAGE Publications, Vol. 14 ( 2023-01), p. 204062072311658-
    Kurzfassung: Recent advances in therapeutics are now providing a wide range of options for adults and children living with hemophilia. Although therapeutic choices are also increasing for the youngest individuals with severe disease, challenges remain about early management decisions, as supporting data are currently limited. Parents and healthcare professionals are tasked with helping children achieve an inclusive quality of life and maintain good joint health into adulthood. Primary prophylaxis is the gold standard to optimize outcomes and is recommended to start before 2 years of age. A range of topics need to be discussed with parents to aid their understanding of the decisions they can make and how these will affect the management of their child/children. For those with a family history of hemophilia, prenatal considerations include the possibility of genetic counseling, prenatal investigations, and planning for delivery, together with monitoring of the mother and neonate, as well as diagnosis of the newborn and treatment of any birth-associated bleeding. Subsequent considerations, which are also applicable to families where infant bleeding has resulted in a new diagnosis of sporadic hemophilia, involve explaining bleed recognition and treatment options, practical aspects of initiating/continuing prophylaxis, dealing with bleeds, and ongoing aspects of treatment, including possible inhibitor development. Over time, optimizing treatment efficacy, in which individualizing therapy around activities can play a role, and long-term considerations, including retaining joint health and tolerance maintenance, become increasingly important. The evolving treatment landscape is creating a need for continually updated guidance. Multidisciplinary teams and peers from patient organizations can help provide relevant information. Easily accessible, multidisciplinary comprehensive care remains a foundation to care. Equipping parents early with the knowledge to facilitate truly informed decision-making will help achieve the best possible longer-term health equity and quality of life for the child and family living with hemophilia. Plain language summary Points to be taken into account to help families make decisions to best care for children born with hemophilia Medical advances are providing a range of treatment options for adults and children with hemophilia. There is, however, relatively limited information about managing newborns with the condition. Doctors and nurses can help parents to understand the choices for infants born with hemophilia. We describe the various points doctors and nurses should ideally discuss with families to enable informed decision-making. We focus on infants who require early treatment to prevent spontaneous or traumatic bleeding (prophylaxis), which is recommended to start before 2 years of age. Families with a history of hemophilia may benefit from discussions before pregnancy, including how an affected child would be treated to protect against bleeds. When mothers are pregnant, doctors can explain investigations that can provide information about their unborn child, plan for the birth, and monitor mother and baby to minimize bleed risks at delivery. Testing will confirm whether the baby is affected by hemophilia. Not all infants with hemophilia will be born to families with a history of the condition. Identification of hemophilia for the first time in a family (which is ‘sporadic hemophilia’) occurs in previously undiagnosed infants who have bleeds requiring medical advice and possibly hospital treatment. Before any mothers and babies with hemophilia are discharged from hospital, doctors and nurses will explain to parents how to recognize bleeding and available treatment options can be discussed. Over time, ongoing discussions will help parents to make informed treatment decisions: • When and how to start, then continue, prophylaxis. • How to deal with bleeds (reinforcing previous discussions about bleed recognition and treatment) and other ongoing aspects of treatment.  ○ For instance, children may develop neutralizing antibodies (inhibitors) to treatment they are receiving, requiring a change to the planned approach. • Ensuring treatment remains effective as their child grows, considering the varied needs and activities of their child.
    Materialart: Online-Ressource
    ISSN: 2040-6207 , 2040-6215
    URL: Article
    DOI: 10.1177/20406207231165857
    Sprache: Englisch
    Verlag: SAGE Publications
    Publikationsdatum: 2023
    ZDB Id: 2585183-4
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  • 8
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    Sharing datasets of the COVID-19 epidemic in the Czech Republic
    Public Library of Science (PLoS) ; 2022
    In:  PLOS ONE Vol. 17, No. 4 ( 2022-4-21), p. e0267397-
    Details
    In: PLOS ONE, Public Library of Science (PLoS), Vol. 17, No. 4 ( 2022-4-21), p. e0267397-
    Kurzfassung: At the time of the COVID-19 pandemic, providing access to data (properly optimised regarding personal data protection) plays a crucial role in providing the general public and media with up-to-date information. Open datasets also represent one of the means for evaluation of the pandemic on a global level. The primary aim of this paper is to describe the methodological and technical framework for publishing datasets describing characteristics related to the COVID-19 epidemic in the Czech Republic (epidemiology, hospital-based care, vaccination), including the use of these datasets in practice. Practical aspects and experience with data sharing are discussed. As a reaction to the epidemic situation, a new portal COVID-19 : Current Situation in the Czech Republic ( https://onemocneni-aktualne.mzcr.cz/covid-19 ) was developed and launched in March 2020 to provide a fully-fledged and trustworthy source of information for the public and media. The portal also contains a section for the publication of (i) public open datasets available for download in CSV and JSON formats and (ii) authorised-access-only section where the authorised persons can (through an online generated token) safely visualise or download regional datasets with aggregated data at the level of the individual municipalities and regions. The data are also provided to the local open data catalogue (covering only open data on healthcare, provided by the Ministry of Health) and to the National Catalogue of Open Data (covering all open data sets, provided by various authorities/publishers, and harversting all data from local catalogues). The datasets have been published in various authentication regimes and widely used by general public, scientists, public authorities and decision-makers. The total number of API calls since its launch in March 2020 to 15 December 2020 exceeded 13 million. The datasets have been adopted as an official and guaranteed source for outputs of third parties, including public authorities, non-governmental organisations, scientists and online news portals. Datasets currently published as open data meet the 3-star open data requirements, which makes them machine-readable and facilitates their further usage without restrictions. This is essential for making the data more easily understandable and usable for data consumers. In conjunction with the strategy of the MH in the field of data opening, additional datasets meeting the already implemented standards will be also released, both on COVID-19 related and unrelated topics.
    Materialart: Online-Ressource
    ISSN: 1932-6203
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.1371/journal.pone.0267397
    DOI: 10.1371/journal.pone.0267397.g001
    DOI: 10.1371/journal.pone.0267397.g002
    DOI: 10.1371/journal.pone.0267397.g003
    DOI: 10.1371/journal.pone.0267397.g004
    DOI: 10.1371/journal.pone.0267397.s001
    DOI: 10.1371/journal.pone.0267397.s002
    DOI: 10.1371/journal.pone.0267397.s003
    Sprache: Englisch
    Verlag: Public Library of Science (PLoS)
    Publikationsdatum: 2022
    ZDB Id: 2267670-3
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  • 9
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    Inherited coagulation disorders
    Galen, spol. s r.o. ; 2022
    In:  Česko-slovenská pediatrie Vol. 77, No. 5 ( 2022-9-23), p. 310-313
    Details
    In: Česko-slovenská pediatrie, Galen, spol. s r.o., Vol. 77, No. 5 ( 2022-9-23), p. 310-313
    Materialart: Online-Ressource
    ISSN: 0069-2328 , 1805-4501
    Originaltitel: Vrozené poruchy krevního srážení
    URL: Article
    DOI: 10.55095/CSPediatrie2022/051
    Sprache: cs
    Verlag: Galen, spol. s r.o.
    Publikationsdatum: 2022
    ZDB Id: 2641017-5
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  • 10
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    Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study
    Georg Thieme Verlag KG ; 2019
    In:  Thrombosis and Haemostasis Vol. 119, No. 04 ( 2019-04), p. 594-605
    Details
    In: Thrombosis and Haemostasis, Georg Thieme Verlag KG, Vol. 119, No. 04 ( 2019-04), p. 594-605
    Kurzfassung: Background von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). The heterogeneity of laboratory phenotyping makes diagnosing difficult. Objective A cross-sectional, family-based VWD study in a collaboration between University Hospital Brno (Czech Republic) and Antwerp University Hospital (Belgium) to improve the understanding of laboratory phenotype/genotype correlation. Patients and Methods A total of 205 patients with suspected VWD were identified from historical records. Complete laboratory analysis was established using all available VWD assays including VWF multimers and genetic analysis. Results Based on the current International Society of Thrombosis and Haemostasis (ISTH) – Scientific and Standardization Committee VWD classification and type 2A sub-division into 2A/IIA, IID, IIC and IIE, the majority was characterized as a type 1 VWD, followed by type 2. Proposed laboratory phenotypes were confirmed by their multimeric pattern within 98% of this cohort. All type 2, 3 and 75% of type 1 VWD patients were confirmed by underlying causative mutations. Forty-six different causal mutations (117 not previously described in the literature) could be identified. Fifty per cent of all cases was represented by eight individual mutations, mainly p.Pro812ArgfsX31. Thirteen patients had a large heterozygous gene alteration. Conclusion Although an extensive panel of tests was used, VWD classification and (sub)typing remains difficult and fluid. This study provides a cross-sectional overview of the VWD population in the Czech Republic and provides important data to the ISTH/European Association for Haemophilia and Allied Disorders VWD mutation database in linking causal mutations with unique VWD (sub)types. It also identifies new, as not previously described in the literature, causal mutations.
    Materialart: Online-Ressource
    ISSN: 0340-6245 , 2567-689X
    URL: Article
    DOI: 10.1055/s-0039-1678528
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2019
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