Cysteine-Altering NOTCH3 Variants Are Associated with an Increased Risk of Autoimmune Diseases.

Autoimmune conditions have been reported among patients with cysteine-altering variants and CADASIL. This study aimed to investigate the occurrence of autoimmune illnesses and markers of inflammation in such populations. Cases were identified who had a cysteine-altering variant from the Geisinger MyCode Community Health Initiative (MyCode).

Defining the Age of Young Ischemic Stroke Using Data-Driven Approaches.

: The cut-point for defining the age of young ischemic stroke (IS) is clinically and epidemiologically important, yet it is arbitrary and differs across studies. In this study, we leveraged electronic health records (EHRs) and data science techniques to estimate an optimal cut-point for defining the age of young IS. Patient-level EHRs were extracted from 13 hospitals in Pennsylvania, and used in two parallel approaches.