Publications by authors named "M d'Apolito"
Article Synopsis
- Wiedemann-Steiner syndrome (WSS) is a rare genetic condition linked to impaired gene expression due to mutations affecting chromatin proteins, leading to various developmental issues.
- A study focused on a 10-year-old girl with signs of WSS utilized whole exome sequencing (WES) and Sanger resequencing to identify a new mutation in the KMT2A gene, which is considered likely pathogenic.
- Computational modeling of the mutated protein indicated that this change could disrupt its functionality by altering its DNA binding capabilities, providing further insight into the genetic basis of WSS.
Article Synopsis
- Immunotherapy is a diverse set of cancer treatments that use the immune system to fight cancer and includes methods like immune-checkpoint inhibitors and CAR-T therapy.
- While these treatments can be highly effective, they have been linked to unexpected side effects, especially cardiovascular issues, which have become more documented in recent years.
- The review emphasizes the need for specialized guidelines to better manage the unique cardiovascular risks associated with immunotherapy, providing insights into how to evaluate and handle these patients effectively.
Background: Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness due to autoantibodies targeting neuromuscular junction proteins. Mycophenolate mofetil (MMF), an immunosuppressive therapy, has shown potential for managing MG with fewer side effects compared to other treatments. This study aims to evaluate the effectiveness and safety of MMF in MG patients in a real-life multicenter setting.
View Article and Find Full Text PDFBackground: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart.
Aim Of The Study: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant Brugada syndrome.
Methods: Clinical and genetic studies were performed.