paediatrics
paediatrics

Clearing MRD positivity with blinatumomab in pediatric B-cell acute lymphoblastic leukemia: insights from droplet digital PCR and flow cytometry

Ann Hematol. 2024 Dec 13. doi: 10.1007/s00277-024-06126-8. Online ahead of print. ABSTRACT Blinatumomab has shown to improve survival outcomes in B-cell acute lymphoblastic leukemia (B-ALL) …

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01759-9. Online ahead of print. ABSTRACT Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is …

Quantitative Contribution of Clinical Attacks to Residual Disability in Patients With AQP4-Antibody Neuromyelitis Optica Spectrum Disorder

Neurology. 2025 Jan 14;104(1):e210137. doi: 10.1212/WNL.0000000000210137. Epub 2024 Dec 12. ABSTRACT BACKGROUND AND OBJECTIVES: Disease-related disability in aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD) is …