2 results match your criteria: "Department of Pediatrics Kyoto Prefectural University of Medicine Kyoto Japan.[Affiliation]"
Introduction: We present a case of a 9-year-old girl diagnosed with a myeloproliferative neoplasm (MPN) harboring both monosomy 7 and an ALK/ROS1 fusion gene.
Case Presentation: The neoplasm was resistant to conventional AML chemotherapy and required hematopoietic cell transplantation (HCT) to achieve remission.
Discussion: MPNs with monosomy 7 and ALK/ROS1 fusions occur in a wide age range of children and adults, and require HCT for long-term remission.
Article Synopsis
- Left ventricular noncompaction (LVNC) is a hereditary heart condition marked by unusual heart muscle structure, and this study specifically focused on biventricular noncompaction (BiVNC) in children to understand its clinical characteristics and genetic factors.
- The research involved 234 pediatric patients and revealed that BiVNC often leads to serious complications, including a higher incidence of congenital heart disease and reduced survival rates compared to other heart conditions.
- Findings indicated that patients with BiVNC frequently exhibited left ventricular dysfunction and a notable percentage had genetic variants linked to mitochondrial and developmental issues, emphasizing the need for thorough genetic screening for better patient outcomes.