Publications by authors named "K Shimano"
Genetically targeted medications are emerging as important therapies for lymphatic malformations (LMs) unresponsive to sirolimus. We describe two patients with EML4::ALK-positive LMs, one with Gorham Stout disease and one with a large genitourinary (GU) LM, who were successfully treated with ALK inhibitors. This report adds ALK inhibitors to the growing toolbox of molecularly targeted therapies for LMs.
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- Researchers conducted a genome-wide association study to identify genetic variants linked to pediatric immune thrombocytopenia (ITP) in a large group of patients.
- Six significant genetic variants were found, particularly in the genes NAV2 and NKD1, which are associated with the Wnt signaling pathway and inversely correlated with ITP.
- The study highlighted that no significant genetic variants were found to differentiate between those with ITP who recovered quickly and those who developed chronic ITP, suggesting a complex genetic influence on disease outcomes.
Article Synopsis
- * In 2023, the Pediatric ITP Consortium defined refractory pediatric ITP as no platelet response after treatment with all eligible emergent therapies.
- * Patients with high disease burden or lack of platelet response, despite various treatments, are identified as a challenging group that requires further research and the potential for new treatment options.
Background: Progressive supranuclear palsy (PSP) is characterized by early onset postural instability and frequent falls. Circular walking necessitates dynamic postural control, which is impaired in patients with PSP. We aimed to explore gait parameters associated with the risk of falls in patients with PSP, focusing on circular walking.
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