Publications by authors named "C Gambacorti-Passerini"
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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- Myeloproliferative neoplasms are disorders involving stem cells, where chronic inflammation plays a significant role in complications like blood clots, and the neutrophil-to-lymphocyte ratio (NLR) is becoming a potential prognostic tool for assessing these conditions.
- A study of 473 patients with essential thrombocythemia showed that a high NLR at diagnosis (≥4) increased the risk of both arterial and venous thrombotic events, alongside other factors such as diabetes and hypertension.
- The NLR is an accessible inflammatory marker that could be used alongside traditional cardiovascular risk assessments to identify patients at higher risk for thrombosis in essential thrombocythemia.
Background: Anaplastic Large Cell Lymphoma (ALCL) is a rare and aggressive T-cell lymphoma, classified into ALK-positive and ALK-negative subtypes, based on the presence of chromosomal translocations involving the ALK gene. The current standard of treatment for ALCL is polychemotherapy, with a high overall survival rate. However, a subset of patients does not respond to or develops resistance to these therapies, posing a serious challenge for clinicians.
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