Marjorie Risman
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View article: Reduced order computational fluid dynamic simulations in the thoracic aorta are associated with disease recorded in a medical biobank
Reduced order computational fluid dynamic simulations in the thoracic aorta are associated with disease recorded in a medical biobank Open
This study examines the association of aortic geometric traits with flow characteristics and disease outcomes in 3204 patients from the Penn Medicine Biobank (PMBB). Using an nnU-Net, the thoracic aorta was segmented from CT scans to measu…
View article: CT imaging-derived phenotypes for abdominal muscle and their association with age and sex in a medical biobank
CT imaging-derived phenotypes for abdominal muscle and their association with age and sex in a medical biobank Open
The study of muscle mass as an imaging-derived phenotype (IDP) may yield new insights into determining the normal and pathologic variations in muscle mass in the population. This can be done by determining 3D abdominal muscle mass from 12 …
View article: PB1505 C-Reactive Protein Across the Menstrual Cycle in Females with Sickle Cell Disease
PB1505 C-Reactive Protein Across the Menstrual Cycle in Females with Sickle Cell Disease Open
Results: Among 420 patients evaluated, 163 patients met the inclusion criteria.The median age was 60.6 (IQR: 47.3-74.8)and 42.9% were female.The median time to first follow-up and median total duration of follow-up was 1.93 months (IQR: 0.…
View article: Biallelic <i>BRCA</i> Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline <i>BRCA1/2</i> Carriers
Biallelic <i>BRCA</i> Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline <i>BRCA1/2</i> Carriers Open
PURPOSE Breast and ovarian tumors in germline BRCA1/2 carriers undergo allele-specific loss of heterozygosity, resulting in homologous recombination deficiency (HRD) and sensitivity to poly-ADP-ribose polymerase (PARP) inhibitors. This stu…
View article: Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population
Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population Open
Background Pharmacogenomics (PGx) aims to utilize a patient’s genetic data to enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines with strong eviden…
View article: High-Density Lipoprotein (HDL) Phospholipid Content and Cholesterol Efflux Capacity Are Reduced in Patients With Very High HDL Cholesterol and Coronary Disease
High-Density Lipoprotein (HDL) Phospholipid Content and Cholesterol Efflux Capacity Are Reduced in Patients With Very High HDL Cholesterol and Coronary Disease Open
Objective— Plasma levels of high-density lipoprotein cholesterol (HDL-C) are strongly inversely associated with coronary artery disease (CAD), and high HDL-C is generally associated with reduced risk of CAD. Extremely high HDL-C with CAD i…
View article: Exome Sequencing in Suspected Monogenic Dyslipidemias
Exome Sequencing in Suspected Monogenic Dyslipidemias Open
Background— Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results— We performed exome sequencing o…