Publications by authors named "W SEWELL"

Aims: The recent widespread use of electronic health records (EHRs) has opened the possibility for innumerable artificial intelligence (AI) tools to aid in genomics, phenomics, and other research, as well as disease prevention, diagnosis, and therapy. Unfortunately, much of the data contained in EHRs are not optimally structured for even the most sophisticated AI approaches. There are very few published efforts investigating methods for recording discrete data in EHRs that would not slow current clinical workflows or ways to prioritise patient characteristics worth recording.

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Introduction: Flow cytometry (FCM) is widely used in the diagnosis of mature B-cell neoplasms (MBN), and FCM data are usually consistent with morphological findings. However, diffuse large B-cell lymphoma (DLBCL), a common MBN, is sometimes not detected by FCM. This study aimed to explore factors that increase the likelihood of failure to detect DLBCL by FCM.

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Article Synopsis
  • Heterozygous mutations in PIK3R1 cause activated PI3Kδ syndrome 2 (APDS2), which shares symptoms with APDS1 caused by PIK3CD mutations.
  • Research using a CRISPR/Cas9 mouse model and patient immune cells revealed that PIK3R1 mutations lead to unique cellular defects, including issues with B cell function and survival of pups.
  • The study found important differences in how PIK3R1 loss-of-function (LOF) and PIK3CD gain-of-function (GOF) mutations affect immune cell signaling and function, highlighting distinct genetic impacts on immune health.
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