Progressive pancytopenia is a common feature observed in DNA crosslink repair deficiency disorder, Fanconi anemia (FA). However, this phenotype has not been recapitulated in single FA gene knockout animal models. In this study, we analyzed hematological characteristics in zebrafish null mutants for two FA genes, fanca and fanco. In adult mutants, we demonstrate age-associated reduction in blood cell counts for all lineages, resembling progressive pancytopenia in FA patients. In larval mutants, we demonstrate vascular injury-induced thrombosis defects, particularly upon treatment with crosslinking agent diepoxybutane (DEB), indicating DNA damage induced inefficiency of thrombocytes.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760166 | PMC |
| http://dx.doi.org/10.1016/j.bcmd.2021.102640 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical practice guidelines for management of disseminated intravascular coagulation in Japan 2024. Part 3: solid cancers and vascular abnormalities.
Int J Hematol
January 2025
Associated Department With Mie Graduate School of Medicine, Mie Prefectural General Medical Center, Yokkaichi, Japan.
This study discusses disseminated intravascular coagulation (DIC) associated with solid cancers and various vascular abnormalities, both of which generally exhibit chronic DIC patterns. Solid cancers are among the most significant underlying diseases that induce DIC. However, the severity, bleeding tendency, and progression of DIC vary considerably depending on the type and stage of the cancer, making generalization difficult.
View Article and Find Full Text PDFAtrial Septal Defect Occluder-Induced Left Atrial Injury: A Paradoxical Source of Embolic Strokes.
Ann Thorac Surg Short Rep
September 2024
Department of Cardiovascular Surgery, Mayo Clinic, Rochester, Minnesota.
Transcatheter atrial septal defect closure is a prevalent minimally invasive treatment option but still has cerebrovascular accident (CVA) risk. An unusual thromboembolic CVA cause is device-related mechanical atrial injury. We describe the case of a patient with prior transcatheter atrial septal defect closure who had ongoing CVA despite anticoagulation.
View Article and Find Full Text PDFAssociation between Clot Waveform Analysis Parameters and the Severity of Liver Cirrhosis.
Thromb Haemost
January 2025
Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Background: Clot waveform analysis (CWA) provides a global assessment of hemostasis and may be useful for patients with cirrhosis with complex hemostatic abnormalities. This study aimed to assess the association between prothrombin time (PT-) and activated partial thromboplastin time (aPTT-) based CWA parameters and cirrhosis severity and prospectively evaluate the role of CWA in predicting mortality and acute decompensation (AD) over 1 year.
Methods: This prospective study included adult patients with cirrhosis between June 2021 and December 2023 at Chulalongkorn University Hospital.
Endoscopic Flexor Hallucis Longus Tendon Transfer for the Treatment of Chronic Achilles Tendon Defects.
JBJS Essent Surg Tech
January 2025
The Ohio State University College of Medicine, Columbus, Ohio.
Background: An all-inside endoscopic flexor hallucis longus (FHL) tendon transfer is indicated for the treatment of chronic, full-thickness Achilles tendon defects. The aim of this procedure is to restore function of the gastrocnemius-soleus complex while avoiding the wound complications associated with open procedures.
Description: This procedure can be performed through 2 endoscopic portals, a posteromedial portal (the working portal) and a posterolateral portal (the visualization portal).
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!