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Full-Text Articles in Genetic Structures
Differential Transcriptional Alterations In Detoxification Genes In Parkinson’S Disease In Egypt, Nourhan Shebl
Differential Transcriptional Alterations In Detoxification Genes In Parkinson’S Disease In Egypt, Nourhan Shebl
Theses and Dissertations
PD is the most common motor neurodegenerative disease worldwide. The underlying cause of PD is still unknow, owingthis to the complexity of the disease. Often, genetics and environmental factors are collaborating in the initiation of the disease. Despite the diversity of its genetical and environmental profiles, the Egyptian population is one of the mostunderrepresented population in terms of PD research. In this study, we investigated PD through various perspectives tohighlight the complexity of the disease in Egypt, taking into consideration the diversity of the Egyptian population. We recruited PD patients and reference controls from 4 governorates: Cairo, Giza, Alexandria, and …
Assessing Identification Of Newly Diagnosed Breast Cancer Patients For Referral To Genetic Counseling, Corinne Marie Locke
Assessing Identification Of Newly Diagnosed Breast Cancer Patients For Referral To Genetic Counseling, Corinne Marie Locke
Theses and Dissertations
Since 1998, the National Comprehensive Cancer Network (NCCN) guidelines have specified clinical indications for genetic testing for breast cancer susceptibility genes, but retrospective studies have shown that, despite meeting the NCCN criteria, patients are not always advised of the option of genetic testing. Further compounding this issue, studies have shown that cancer family history intake and documented family history can be incomplete even when taken by oncology providers. At this study site and other cancer centers in the country, patients with a new diagnosis of breast cancer are referred for genetic counseling by their cancer care team if they are …
Quality Of Life Of Children With Spinal Muscular Atrophy: Parents’ Perspectives In Light Of New Treatments, Analyssa R. Tallas
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 …