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Genetic Phenomena

University of South Carolina

2020

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Full-Text Articles in Medicine and Health Sciences

Association Of Body Mass Index Genetic Risk Markers With Body Composition During Adolescence, Brice A. Smoker Apr 2020

Association Of Body Mass Index Genetic Risk Markers With Body Composition During Adolescence, Brice A. Smoker

Senior Theses

Background. Obesity affects nearly a fifth of all children in the United States and is a common risk factor for numerous chronic diseases. Many risk factors contribute to obesity, including race and genetics. Obesity is partially heritable, and many genetic loci have been identified as being associated with body mass index (BMI) in adults. Some of these loci have also been associated with childhood BMI, with effects strengthening with age. A previous genome-wide association study (GWAS) identified five single nucleotide polymorphisms (SNPs) associated with changes in BMI in children aged 1 – 17 years.

Purpose. The purpose of the current …


Quality Of Life Of Children With Spinal Muscular Atrophy: Parents’ Perspectives In Light Of New Treatments, Analyssa R. Tallas Apr 2020

Quality Of Life Of Children With Spinal Muscular Atrophy: Parents’ Perspectives In Light Of New Treatments, Analyssa R. Tallas

Theses and Dissertations

Purpose: To directly compare parents’ perspectives of the quality of life of their children with Spinal Muscular Atrophy (SMA) who received supportive care, nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®), or both nusinersen and onasemnogene abeparvovec-xioi. Methods: The parents of children with SMA were recruited to complete anonymous online surveys. All surveys included qualitative questions about quality of life. Surveys regarding children in the 1-12-month and 13-24-month age groups included the Pediatric Quality of Life Infant Scales assessment. Surveys regarding children in the 2-4-year age group included the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and the Pediatric Quality of …