Publications by authors named "Ivan Civettini"

Background: Unstable hemoglobins are caused by single amino acid substitutions in the HBB gene, often affecting key histidine residues, leading to protein destabilization and hemolytic crises. In contrast, long HBB variants, exceeding 20 bp, are rare and associated with a β-thalassemia phenotype due to disrupted α-β chain interactions. We describe a family wherein four of six members carry a novel 23-amino-acid in-frame duplication of HBB (c.

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Background: Induction with daratumumab-based regimens followed by autologous stem cell transplantation is the current standard for newly diagnosed multiple myeloma (NDMM) patients eligible for intensive chemotherapy. However, concerns emerged regarding potential negative effects following daratumumab-based treatment on CD34+ mobilization. We here compared CD34+ mobilization and clonogenic potential between daratumumab and non-daratumumab based therapy without upfront plerixafor administration among patients affected by NDMM.

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Article Synopsis
  • SETBP1 mutations are associated with various clonal myeloid disorders, but their role in initiating leukemia is uncertain, as they usually occur later in the progression of the disease.
  • Researchers created a mouse model with SETBP1 mutations in blood-forming tissue, which resulted in significant changes in cell differentiation and the development of a serious myeloid neoplasm.
  • In a study of triple-negative primary myelofibrosis patients, two groups were identified—those with SETBP1 mutations, who experienced more aggressive disease, and those without mutations, suggesting that SETBP1 mutations may act earlier in some clonal disorders than previously thought.
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In a first-of-its-kind study, we assessed the capabilities of large language models (LLMs) in making complex decisions in haematopoietic stem cell transplantation. The evaluation was conducted not only for Generative Pre-trained Transformer 4 (GPT-4) but also conducted on other artificial intelligence models: PaLm 2 and Llama-2. Using detailed haematological histories that include both clinical, molecular and donor data, we conducted a triple-blind survey to compare LLMs to haematology residents.

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Article Synopsis
  • Erythropoiesis-stimulating agents (ESA), particularly biosimilars (B-ESA), show promise in treating anemia in myelofibrosis (MF), although their effectiveness is not fully established.
  • A study of 96 MF patients indicated an 80% anemia response rate with B-ESA, where important factors for response included being transfusion-independent and having low ferritin levels at the start of treatment.
  • The treatment was generally well-tolerated, with only 2.5% discontinuing due to toxicity, and those who responded to B-ESA had better survival rates compared to non-responders, suggesting the need for further research on its clinical benefits.
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