A NOTCH3 pathogenic variant influences osteogenesis and can be targeted by antisense oligonucleotides in induced pluripotent stem cells.

Lateral Meningocele Syndrome (LMS), a disorder associated with NOTCH3 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia that is ameliorated by the administration of Notch3 antisense oligonucleotides (ASO) targeting either Notch3 or the Notch3 mutation. To determine the consequences of LMS pathogenic variants in human cells and whether they can be targeted by ASOs, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH36692-93insC insertion were created.

Patterns of platelet use evaluated in EHR networks of the Biologics Effectiveness and Safety Initiative, 2012-2018.

Background: U.S. FDA's Center for Biologics Evaluation and Research (CBER) Biologics Effectiveness and Safety (BEST) Initiative leverages large electronic health records and administrative claims data to conduct active surveillance for CBER-regulated products.

Predictors of quality of life and resilience in patients with ovarian cancer during the COVID-19 pandemic: a cross-sectional study.

Purpose: The aim of this cross-sectional study was to investigate the psychosocial burdens of patients with ovarian cancer during the COVID-19 pandemic.

Methods: Ovarian cancer patients answered a quantitative survey assessing their resilience (BRS) and quality of life (FACT-G7) as well as clinical (first- vs. ≥ second-line treatment), demographic (age < 65 vs.

Value sets and the problem of redundancy in value set repositories.

Objective: Crafting high-quality value sets is time-consuming and requires a range of clinical, terminological, and informatics expertise. Despite widespread agreement on the importance of reusing value sets, value set repositories suffer from clutter and redundancy, greatly complicating efforts at reuse. When users encounter multiple value sets with the same name or ostensibly representing the same clinical condition, it can be difficult to choose amongst them or determine if any differences among them are due to error or intentional decision.

A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.

Hajdu Cheney Syndrome (HCS), a monogenic disorder associated with NOTCH2 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia. To determine the consequences of a HCS pathogenic variant in human cells, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH2 mutation or null for HES1 alleles were created.