Publications by authors named "N Engelhardt"
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.
Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children's Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position.
Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) is a rare genetic disorder caused by biallelic variants in the PGM1 gene, leading to the deficiency of the PGM1 enzyme. The most common clinical presentations include muscle involvement, failure to thrive, cleft palate, and cardiac involvement. Abnormal serum N-glycosylation, hypoglycemia, and liver function abnormalities including coagulation abnormalities are the most common laboratory abnormalities.
View Article and Find Full Text PDFArticle Synopsis
- The report examines clinical, genetic, and biochemical characteristics of individuals with a confirmed congenital disorder of glycosylation (CDG) participating in the FCDGC Natural History cohort after five years of study.
- A total of 333 subjects were enrolled, with 280 having available genetic data; this included a nearly even split between males and females, with ages ranging from infancy to 71 years.
- The study found developmental delays to be the most common symptom leading to diagnosis, occurring in 77% of participants, with an average delay of 2.7 years from symptom onset to diagnosis, and nearly all individuals displaying some developmental differences at the time of enrollment.
Objective: To provide a retrospective evaluation of a new eye and vision rehabilitation care pathway in a U.S. multi-site inpatient rehabilitation network involving the occupational therapy (OT) staff and a consulting doctor of optometry (OD) specializing in vision rehabilitation.
View Article and Find Full Text PDFWe investigate the value of investor relations (IR) and find firms with strong IR to experience between five and eight percentage points higher stock returns than those with weak IR during the COVID-19 crisis. Firms with better-quality IR are also associated with higher investor loyalty and appear to have attracted significantly more institutional investors over the crisis period. This suggests that a firm's IR contributes to value generation by enhancing credibility with shareholders and by diversifying its shareholder base.
View Article and Find Full Text PDF