Changes in Subjective Cognitive and Social Functioning in Parkinson's Disease from Before to During the COVID-19 Pandemic.

Social isolation and health-related consequences of the COVID-19 pandemic may have significantly impacted quality of life in people with Parkinson's disease (PwPD). The effect of the COVID-19 pandemic specifically on subjective cognition and social functioning in PwPD is poorly understood. We conducted a longitudinal analysis of changes in subjective cognitive and social functioning in PwPD before (T1, 2017-2019) and during (T2, 2021) the COVID-19 pandemic.

The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup.

Polygenic risk scores (PRSs) depend on genetic ancestry due to differences in allele frequencies between ancestral populations. This leads to implementation challenges in diverse populations. We propose a framework to calibrate PRS based on ancestral makeup.

Selumetinib in adults with NF1 and inoperable plexiform neurofibroma: a phase 2 trial.

The MEK inhibitor selumetinib induces objective responses and provides clinical benefit in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PNs). To evaluate whether similar outcomes were possible in adult patients, in whom PN growth is generally slower than in pediatric patients, we conducted an open-label phase 2 study of selumetinib in adults with NF1 PNs. The study was designed to evaluate objective response rate (primary objective), tumor volumetric responses, patient-reported outcomes and pharmacodynamic effects in PN biopsies.