Publications by authors named "Ivana Darden"
Telomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly understood. Here, we characterized the clonal landscape of a large cohort of 207 patients with TBD with a broad range of age and phenotype.
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- VEXAS syndrome is a genetic disorder that causes bone marrow failure and systemic inflammation, which can lead to a higher risk of infections for affected patients.
- In a study of 94 patients with VEXAS, 6% developed pneumonia (PJP), 15% experienced reactivation of the alphaherpesvirus, and 10% had non-tuberculous mycobacterial infections.
- The research found that developing PJP or NTM significantly increases the risk of death, while prophylactic treatments for these infections were shown to be highly effective in reducing infection rates.
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- Diamond-Blackfan anaemia (DBA) is a rare genetic condition that leads to bone marrow failure, primarily due to problems with ribosomal function, resulting in issues with red blood cell (RBC) production and excess reactive iron.
- A pilot study tested the effectiveness of eltrombopag, a drug that acts as an iron chelator, in improving RBC production among DBA patients, with some positive results but limited overall response rates.
- While eltrombopag showed promise in increasing hemoglobin levels and reducing blood transfusion needs in one patient, complications like thrombocytosis led to dose adjustments or discontinuation in a significant portion of participants, highlighting challenges in treatment and the need for further research.
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- VEXAS syndrome is an autoinflammatory disorder linked to mutations in the UBA1 gene, with thrombosis being a significant clinical feature affecting 49% of patients.
- The majority of thrombosis cases were venous thromboembolism (VTE), often occurring unprovoked, recurrent, and sometimes even in patients on anticoagulants.
- Despite the high incidence of VTE, overall patient survival was good, with an 88% survival rate over nearly 5 years, indicating that thrombosis does not significantly impact long-term survival in these patients.
Article Synopsis
- VEXAS syndrome is a health condition caused by changes in a gene called UBA1, leading to serious inflammation and issues with blood cells.
- Researchers studied 80 patients to understand how other gene mutations relate to VEXAS, finding that many had additional mutations but these didn’t seem to cause inflammation.
- The study showed that the type of mutations these patients have can affect their health outcomes, with some patterns linked to better or worse survival rates over 10 years.
Patients with severe aplastic anaemia (SAA) are often not vaccinated against viruses due to concerns of ineffective protective antibody response and potential for pathogenic global immune system activation, leading to relapse. We evaluated the impact of COVID-19 vaccination on haematological indices and disease status and characterized the humoural and cellular responses to vaccination in 50 SAA patients, who were previously treated with immunosuppressive therapy (IST). There was no significant difference in haemoglobin (p = 0.
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