A family was identified which carries multi-haematological disorders including Type IIA von Willebrand's disease, vascular telangiectasia, and a haemoglobinopathy (haemoglobin S trait). In the affected individuals, the von Willebrand's disease varies in its expression from an asymptomatic form to a severe form especially in those patients with telangiectasia. Some patients have vascular telangiectasia in the mucous membranes of the mouth and lips. In two patients endoscopy disclosed telangiectasia in the mucous membranes of the gastrointestinal tract. All of the patients who had telangiectasia also had von Willebrand's disease. An incidental finding was the presence of an abnormal haemoglobin (haemoglobin S) in some family members. The pattern of inheritance of the haemoglobinopathy was unrelated to the inheritance pattern of von Willebrand's disease. The presence of haemoglobin S did not interfere with the aggregation of platelets in response to ristocetin.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Amelioration of a von Willebrand disease type 2B phenotype in vivo upon treatment with allele-selective siRNAs.
Blood Adv
January 2025
Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Treatment options for the bleeding disorder von Willebrand disease type 2B (VWD2B) are insufficient and fail to address the negative effects of circulating mutant von Willebrand factor (VWF). The dominant-negative nature of VWD2B makes functionally defective VWF an interesting therapeutic target. Previous in vitro studies have demonstrated the feasibility of allele-selective silencing of mutant VWF using small interfering RNAs (siRNAs) targeting common single nucleotide polymorphisms (SNPs) in the human VWF gene, an approach that can be applied irrespective of the disease-causing VWF mutation.
View Article and Find Full Text PDFA 31-year-old male with a plasmacytoid dendritic blast cell neoplasm.
Ecancermedicalscience
November 2024
Internal Medicine Service, Sanatorio Sagrado Corazón, Buenos Aires, CP 1039, Argentina.
Plasmacytoid blast dendritic cell neoplasm is a rare subtype of acute leukaemia that represents less than 1% of haematologic neoplasms. It is characterised by skin involvement and leukaemic dissemination in the rest of the body. The immunophenotype is represented by the expression of CD4, CD56 and CD123.
View Article and Find Full Text PDFmBAT: a newly developed mobile application for self-screening of pediatric bleeding disorders - a multi-center study.
Ann Hematol
January 2025
Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Ratchathewi District, Bangkok, Thailand.
Bleeding assessment tools (BATs) are used by trained medical personnel for screening bleeding disorders on a one-to-one basis with patients; hence, they are time-consuming and limited in use for large-population screening. The aims of the study were to develop, validate, and demonstrate a Thai BAT mobile application (mBAT) for self-screening of bleeding disorders. mBAT was developed and validated using the paper-based Thai version of pediatric bleeding questionnaire (TPBQ).
View Article and Find Full Text PDFA Rare But Fatal Toxicity: Immune Checkpoint Inhibitor-Related Acquired Thrombotic Thrombocytopenic Purpura.
J Immunother Precis Oncol
February 2025
Section of Benign Hematology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Thrombotic thrombocytopenic purpura (TTP) is characterized by thrombotic microangiopathy resulting from decreased activation of the von Willebrand factor-cleaving protease (ADAMTS13). TTP can cause organ damage and is often fatal if the appropriate treatment is not started immediately. Although primary immune TTP is the most common form of TTP, secondary immune etiologies, including complications from immune checkpoint inhibitors (ICIs), have also been reported.
View Article and Find Full Text PDFInjury induced endotheliopathy: overview, diagnosis, and management.
Curr Opin Crit Care
January 2025
Shock Trauma Center, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Purpose Of Review: This review aims to examine recent advances in the understanding of injury-induced endotheliopathy and therapeutics to mitigate its development in critically injured patients.
Recent Findings: Clinical studies have clearly demonstrated that syndecan-1 ectodomains can be found in circulation after various types of trauma and injury and correlates with worse outcomes. As the mechanisms of endotheliopathy are better understood, pathologic hyperadhesive forms of von Willebrand factor, along with a relative deficiency of its cleaving enzyme, a disintegrin and metalloprotease with thrombospondin type I motifs, member 13 (ADAMTS13), have emerged as additional biomarkers.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!