Publications by authors named "E Orna"
Introduction: Chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or mutation (MDS-RS/) differ in many clinical features, but share others, such as anemia. RS and mutation can also be found in CMML.
Methods: We compared CMML with and without RS/ and MDS-RS/ considering the criteria established by the 2022 World Health Organization classification.
Article Synopsis
- Mutations in the UBA1 gene, which are linked to VEXAS syndrome, have been found in patients with myelodysplastic syndromes (MDS), with a study identifying 7% of a cohort having specific UBA1 mutations.
- An additional sequencing analysis of a larger group revealed 1% with other potentially harmful variants, and all 40 identified patients with likely/pathogenic mutations were male with various MDS subtypes.
- Most patients with UBA1 mutations exhibited symptoms consistent with VEXAS syndrome, suggesting that routine screening for UBA1 mutations should be considered in MDS management.
Key Clinical Message: HHV8- and EBV-negative primary effusion lymphoma is an extremely rare neoplasm involving body cavities without detectable tumor mass. It usually presents in elderly patients without known immunodeficiency. Compared to primary effusion lymphoma, it has a better prognosis.
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- Vitamin K antagonists (VKA) are the primary treatment for catastrophic antiphospholipid syndrome (CAPS), but direct oral anticoagulants (DOAC) like dabigatran can be effective alternatives for some patients.
- A case study describes a patient with CAPS and a psychiatric disorder who struggled with compliance to VKA and low-molecular-weight heparin, but remained free of thrombosis for 8 years after starting dabigatran.
- The case suggests that dabigatran may be a viable option for high-risk antiphospholipid syndrome patients when traditional VKAs are not suitable.