Publications by authors named "L Barnabei"
Article Synopsis
- Hematologic cancers are prevalent in both adults and children, but many patients still face poor outcomes, highlighting the need for new treatments.
- The Wiskott-Aldrich syndrome protein (WASp) plays a crucial role in actin assembly and is primarily found in blood cells; researchers have created a new small molecule, EG-011, that activates its autoinhibited state.
- Trials show that EG-011 effectively combats various blood cancers like lymphoma and leukemia both in isolated tests and in living models, showcasing its unique mechanism related to actin polymerization.
Article Synopsis
- * A case study of a 49-year-old patient revealed a significant 2.6-kb deletion in the NFKB1 gene, contributing to severe immune issues like respiratory infections and lymphoma, with similar findings in his brother who had milder symptoms.
- * The case highlights the importance of extensive genetic analyses, including copy number variation (CNV), to better understand and diagnose complex genetic conditions in medical genetics. *
BTK and PI3K inhibitors are among the drugs approved for the treatment of patients with lymphoid neoplasms. Although active, their ability to lead to long-lasting complete remission is rather limited, especially in the lymphoma setting. This indicates that tumor cells often develop resistance to the drugs.
View Article and Find Full Text PDFCHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted.
View Article and Find Full Text PDFUnlabelled: BTK and PI3K inhibitors are among the drugs approved for the treatment of patients with lymphoid neoplasms. Although active, their ability to lead as single agents to long-lasting complete remission is rather limited especially in the lymphoma setting. This indicates that tumor cells often develop resistance to the drugs.
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