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Unraveling the Role of Cohesin Mutations in HLA-Class II Downregulation and Leukemia Progression in Down Syndrome
Hematology-OncologyBệnh bạch cầu dòng tủyCohesin mutations

Unraveling the Role of Cohesin Mutations in HLA-Class II Downregulation and Leukemia Progression in Down Syndrome

By MedXY|Sep 17, 2026

This article explores how cohesin mutations impair HLA-class II gene expression, contributing to leukemic progression from transient abnormal myelopoiesis to myeloid leukemia in children with Down syndrome.

Unraveling Alzheimer’s Disease Progression in Down Syndrome via Blood Proteome Dynamics
Neurologyblood proteomelongitudinal biomarkers

Unraveling Alzheimer’s Disease Progression in Down Syndrome via Blood Proteome Dynamics

By MedXY|Sep 5, 2026

Longitudinal analysis of blood proteins reveals distinctive trajectories and associations with cognitive decline in adults with Down syndrome, shedding light on Alzheimer’s disease pathophysiology in this high-risk group.

Plasma p-tau217 and GFAP Emerge as Robust Predictors of Alzheimer’s Progression in Down Syndrome
NeurologyAlzheimer's diseaseDown syndrome

Plasma p-tau217 and GFAP Emerge as Robust Predictors of Alzheimer’s Progression in Down Syndrome

By MedXY|Dec 23, 2025

A pivotal longitudinal study demonstrates that plasma p-tau217 and GFAP accurately predict amyloid-β and tau deposition, cognitive decline, and dementia risk in adults with Down syndrome, offering a transformative, non-invasive tool for cli

CPX‑351 in Down Syndrome–Associated Myeloid Leukemia: a dose‑sensitivity mismatch that reduced event‑free survival in the ML‑DS 2018 trial
Hematology-OncologyCPX-351Down syndrome

CPX‑351 in Down Syndrome–Associated Myeloid Leukemia: a dose‑sensitivity mismatch that reduced event‑free survival in the ML‑DS 2018 trial

By MedXY|Nov 17, 2025

In the ML‑DS 2018 trial, substituting reduced‑intensity induction with CPX‑351 led to lower 24‑month event‑free survival (69% vs 90%) despite excellent overall survival and minimal treatment‑related mortality; MRD by GATA1 NGS, trisomy 8 an

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