Publications by authors named "Jack Sams"
Orphanet J Rare Dis
October 2024
Article Synopsis
- Paroxysmal Nocturnal Haemoglobinuria (PNH) is a rare disorder that is difficult to diagnose due to diverse symptoms and a lack of awareness, often resulting in misdiagnosis.
- This study explores the use of a machine learning model, specifically the XGBoost algorithm, to identify undiagnosed PNH patients using electronic health records from the UK, involving 131 PNH patients and over 593,000 controls.
- The model achieved a recall rate of 27% for PNH patients, with a specificity of 99.99% for controls, and indicated that nearly 1 in 5 flagged patients may need further investigation for PNH, highlighting key symptoms like aplastic anemia and panc
