Nachtrag zur kritischen Diskussion über das Deutsche Hämophilieregister (DHR) anlässlich der GTH-Jahrestagung in Frankfurt 2023, aktuelle Informationen zur Gefährdung der Versorgung mit Blutplasmaprodukten und Aus für Siemens Atellica in Deutschland
Hamostaseologie. 2023 Aug;43(4):306-308. doi: 10.1055/a-2031-7804. Epub 2023 Aug 31.NO ABSTRACTPMID:37652075 | DOI:10.1055/a-2031-7804 (Source: Hamostaseologie)
Source: Hamostaseologie - August 31, 2023 Category: Hematology Authors: J ürgen Koscielny G ünther Kappert Christoph Sucker Source Type: research
Nachtrag zur kritischen Diskussion über das Deutsche Hämophilieregister (DHR) anlässlich der GTH-Jahrestagung in Frankfurt 2023, aktuelle Informationen zur Gefährdung der Versorgung mit Blutplasmaprodukten und Aus für Siemens Atellica in Deutschland
Hamostaseologie. 2023 Aug;43(4):306-308. doi: 10.1055/a-2031-7804. Epub 2023 Aug 31.NO ABSTRACTPMID:37652075 | DOI:10.1055/a-2031-7804 (Source: Hamostaseologie)
Source: Hamostaseologie - August 31, 2023 Category: Hematology Authors: J ürgen Koscielny G ünther Kappert Christoph Sucker Source Type: research
Nachtrag zur kritischen Diskussion über das Deutsche Hämophilieregister (DHR) anlässlich der GTH-Jahrestagung in Frankfurt 2023, aktuelle Informationen zur Gefährdung der Versorgung mit Blutplasmaprodukten und Aus für Siemens Atellica in Deutschland
Hamostaseologie. 2023 Aug;43(4):306-308. doi: 10.1055/a-2031-7804. Epub 2023 Aug 31.NO ABSTRACTPMID:37652075 | DOI:10.1055/a-2031-7804 (Source: Hamostaseologie)
Source: Hamostaseologie - August 31, 2023 Category: Hematology Authors: J ürgen Koscielny G ünther Kappert Christoph Sucker Source Type: research
Progress in Hemostasis (Part 1): Improved Management of Inherited Platelet Disorders: Reality or Illusion?
Hamostaseologie. 2023 Aug;43(4):238-240. doi: 10.1055/a-2031-7790. Epub 2023 Aug 23.ABSTRACTPlatelets are key drivers of hemostasis. Low platelet counts, dysfunction in platelet adhesion, and aggregation lead to increased bleeding tendency. Inherited platelet disorders (IPDs) form a highly heterogeneous group of rare diseases with variable bleeding tendency. IPDs may be associated with other signs and symptoms often referred to as "syndromic." The underlying genetic defect may prone patients to develop hematopoietic diseases such as leukemia. Over the last decade, accumulating knowledge in genetics has led to the detection...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Werner Streif Source Type: research
Erh öhte Faktor-VIII-Aktivität – gesteigertes Risiko für Pfortaderthrombosen
Hamostaseologie. 2023 Aug;43(4):241. doi: 10.1055/s-0043-1774284. Epub 2023 Aug 23.ABSTRACTPFORTADERTHROMBOSEN KOMMEN BEI PATIENTEN MIT LEBERZIRRHOSE HäUFIG VOR. SIE KöNNEN, AUCH WENN SIE HäUFIG ALS ZUFALLSBEFUND DIAGNOSTIZIERT WERDEN, EINE PORTALE HYPERTENSION AGGRAVIEREN UND DAS RISIKO FüR GASTROINTESTINALE VARIZENBLUTUNGEN ERHöHEN. EINE AKTUELLE STUDIE ZEIGTE, DASS EINE ERHöHTE FAKTOR-VIII-AKTIVITäT MIT EINER ERHöHTEN INZIDENZ UND SCHWERE VON PFORTADERTHROMBOSEN EINHERGEHEN KöNNTE.PMID:37611604 | DOI:10.1055/s-0043-1774284 (Source: Hamostaseologie)
Source: Hamostaseologie - August 23, 2023 Category: Hematology Source Type: research
Postthrombotisches Syndrom: SOX-PTS-Score und M éan-Modell zeigen beste Prädiktion
Hamostaseologie. 2023 Aug;43(4):242. doi: 10.1055/s-0043-1774285. Epub 2023 Aug 23.ABSTRACTDAS POSTTHROMBOTISCHE SYNDROM STELLT DIE HäUFIGSTE KOMPLIKATION EINER TIEFEN VENENTHROMBOSE DAR: 20-50% DER PATIENTEN MIT PROXIMALER TIEFER VENENTHROMBOSE DER UNTEREN EXTREMITäT SIND DAVON BETROFFEN. VON DREI VERSCHIEDENEN ETABLIERTEN RISIKOPRäDIKTIONSMODELLEN FüR DIE MANIFESTATION EINES POSTTHROMBOTISCHEN SYNDROMS WIESEN ZWEI EINE GUTE PRäDIKTION AUF.PMID:37611605 | DOI:10.1055/s-0043-1774285 (Source: Hamostaseologie)
Source: Hamostaseologie - August 23, 2023 Category: Hematology Source Type: research
State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders
Hamostaseologie. 2023 Aug;43(4):244-251. doi: 10.1055/a-2099-3266. Epub 2023 Aug 23.ABSTRACTInherited platelet disorders (IPDs) are a heterogeneous group of rare entities caused by molecular divergence in genes relevant for platelet formation and function. A rational diagnostic approach is necessary to counsel and treat patients with IPDs. With the introduction of high-throughput sequencing at the beginning of this millennium, a more accurate diagnosis of IPDs has become available. We discuss advantages and limitations of genetic testing, technical issues, and ethical aspects. Additionally, we provide information on the cl...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Jennifer Gebetsberger Kristina Mott Aline Bernar Eva Klopocki Werner Streif Harald Schulze Source Type: research
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment
Hamostaseologie. 2023 Aug;43(4):252-260. doi: 10.1055/a-2088-1801. Epub 2023 Aug 23.ABSTRACTThrombocytopenia absent radius (TAR) syndrome is a rare form of hereditary thrombocytopenia associated with a bilateral radial aplasia. TAR syndrome is genetically defined by the combination of a microdeletion on chromosome 1 which includes the gene RBM8A, and a single nucleotide polymorphism (SNP) in the second RBM8A allele. While most patients with TAR syndrome harbor a SNP in either the 5' UTR region or in intron 1 of RBM8A, further SNPs associated with TAR syndrome are still being identified. Here, we report on the current under...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Gabriele Strauss Kristina Mott Eva Klopocki Harald Schulze Source Type: research
Treatment of Inherited Platelet Disorders: Current Status and Future Options
Hamostaseologie. 2023 Aug;43(4):261-270. doi: 10.1055/a-2080-6602. Epub 2023 Aug 23.ABSTRACTInherited platelet disorders (IPDs) comprise a heterogeneous group of entities that manifest with variable bleeding tendencies. For successful treatment, the underlying platelet disorder, bleeding severity and location, age, and sex must be considered in the broader clinical context. Previous information from the AWMF S2K guideline #086-004 (www.awmf.org) is evaluated for validity and supplemented by information of new available and future treatment options and clinical scenarios that need specific measures. Special attention is giv...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Caroline Bargehr Ralf Kn öfler Werner Streif Source Type: research
GTH News
Hamostaseologie. 2023 Aug;43(4):298-305. doi: 10.1055/s-0043-1774286. Epub 2023 Aug 23.NO ABSTRACTPMID:37611609 | DOI:10.1055/s-0043-1774286 (Source: Hamostaseologie)
Source: Hamostaseologie - August 23, 2023 Category: Hematology Source Type: research
Progress in Hemostasis (Part 1): Improved Management of Inherited Platelet Disorders: Reality or Illusion?
Hamostaseologie. 2023 Aug;43(4):238-240. doi: 10.1055/a-2031-7790. Epub 2023 Aug 23.ABSTRACTPlatelets are key drivers of hemostasis. Low platelet counts, dysfunction in platelet adhesion, and aggregation lead to increased bleeding tendency. Inherited platelet disorders (IPDs) form a highly heterogeneous group of rare diseases with variable bleeding tendency. IPDs may be associated with other signs and symptoms often referred to as "syndromic." The underlying genetic defect may prone patients to develop hematopoietic diseases such as leukemia. Over the last decade, accumulating knowledge in genetics has led to the detection...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Werner Streif Source Type: research
Erh öhte Faktor-VIII-Aktivität – gesteigertes Risiko für Pfortaderthrombosen
Hamostaseologie. 2023 Aug;43(4):241. doi: 10.1055/s-0043-1774284. Epub 2023 Aug 23.ABSTRACTPFORTADERTHROMBOSEN KOMMEN BEI PATIENTEN MIT LEBERZIRRHOSE HäUFIG VOR. SIE KöNNEN, AUCH WENN SIE HäUFIG ALS ZUFALLSBEFUND DIAGNOSTIZIERT WERDEN, EINE PORTALE HYPERTENSION AGGRAVIEREN UND DAS RISIKO FüR GASTROINTESTINALE VARIZENBLUTUNGEN ERHöHEN. EINE AKTUELLE STUDIE ZEIGTE, DASS EINE ERHöHTE FAKTOR-VIII-AKTIVITäT MIT EINER ERHöHTEN INZIDENZ UND SCHWERE VON PFORTADERTHROMBOSEN EINHERGEHEN KöNNTE.PMID:37611604 | DOI:10.1055/s-0043-1774284 (Source: Hamostaseologie)
Source: Hamostaseologie - August 23, 2023 Category: Hematology Source Type: research
Postthrombotisches Syndrom: SOX-PTS-Score und M éan-Modell zeigen beste Prädiktion
Hamostaseologie. 2023 Aug;43(4):242. doi: 10.1055/s-0043-1774285. Epub 2023 Aug 23.ABSTRACTDAS POSTTHROMBOTISCHE SYNDROM STELLT DIE HäUFIGSTE KOMPLIKATION EINER TIEFEN VENENTHROMBOSE DAR: 20-50% DER PATIENTEN MIT PROXIMALER TIEFER VENENTHROMBOSE DER UNTEREN EXTREMITäT SIND DAVON BETROFFEN. VON DREI VERSCHIEDENEN ETABLIERTEN RISIKOPRäDIKTIONSMODELLEN FüR DIE MANIFESTATION EINES POSTTHROMBOTISCHEN SYNDROMS WIESEN ZWEI EINE GUTE PRäDIKTION AUF.PMID:37611605 | DOI:10.1055/s-0043-1774285 (Source: Hamostaseologie)
Source: Hamostaseologie - August 23, 2023 Category: Hematology Source Type: research
State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders
Hamostaseologie. 2023 Aug;43(4):244-251. doi: 10.1055/a-2099-3266. Epub 2023 Aug 23.ABSTRACTInherited platelet disorders (IPDs) are a heterogeneous group of rare entities caused by molecular divergence in genes relevant for platelet formation and function. A rational diagnostic approach is necessary to counsel and treat patients with IPDs. With the introduction of high-throughput sequencing at the beginning of this millennium, a more accurate diagnosis of IPDs has become available. We discuss advantages and limitations of genetic testing, technical issues, and ethical aspects. Additionally, we provide information on the cl...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Jennifer Gebetsberger Kristina Mott Aline Bernar Eva Klopocki Werner Streif Harald Schulze Source Type: research
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment
Hamostaseologie. 2023 Aug;43(4):252-260. doi: 10.1055/a-2088-1801. Epub 2023 Aug 23.ABSTRACTThrombocytopenia absent radius (TAR) syndrome is a rare form of hereditary thrombocytopenia associated with a bilateral radial aplasia. TAR syndrome is genetically defined by the combination of a microdeletion on chromosome 1 which includes the gene RBM8A, and a single nucleotide polymorphism (SNP) in the second RBM8A allele. While most patients with TAR syndrome harbor a SNP in either the 5' UTR region or in intron 1 of RBM8A, further SNPs associated with TAR syndrome are still being identified. Here, we report on the current under...
Source: Hamostaseologie - August 23, 2023 Category: Hematology Authors: Gabriele Strauss Kristina Mott Eva Klopocki Harald Schulze Source Type: research
