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Genes Mediating Cardiac Remodeling During Pregnancy And The Early Post-Partum-Period In Mice, Esam Aljrbi
Genes Mediating Cardiac Remodeling During Pregnancy And The Early Post-Partum-Period In Mice, Esam Aljrbi
Theses and Dissertations
The female heart undergoes adaptive remodeling during pregnancy to compensate for the increased hemodynamic load imposed by the developing fetus. However, unlike a similar adaptive process which occurs under pathological conditions (such as hypertension and valvular heart disease) the cardiac changes observed during hypertrophy associated with pregnancy are reversible. The goal of this study is to identify changes in gene expression associated with pregnancy-induced hypertrophy. We tested the hypothesis that pregnancy-induced physiological hypertrophy has a unique genetic signature, likely due to altered hormone levels, which supports and promotes reversible remodeling. Comparing the gene expression profile associated with physiological remodeling with …
Walking The Edge With Controversial Use Of Preimplantation Genetic Diagnosis (Pgd): Opinions And Attitudes Of Genetic Counselors, Kristen Everton
Walking The Edge With Controversial Use Of Preimplantation Genetic Diagnosis (Pgd): Opinions And Attitudes Of Genetic Counselors, Kristen Everton
Theses and Dissertations
Purpose: This study explored opinions and attitudes of genetic counselors regarding three controversial applications of preimplantation genetic diagnosis (PGD): PGD for early-onset Alzheimer, use of embryos that are BRCA positive after PGD revealed no disease-free embryos to be available, and PGD to select against a variant of unknown significance (VUS) for Marfan syndrome. Methods: Genetic counselors were contacted through the National Society of Genetic Counselors (NSGC) electronic mailing list. Inclusion criteria required that a participant was currently practicing as a genetic counselor, was a member of the NSGC, and has counseled patients about PGD. Twenty-nine participants volunteered to participate and …
Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez
Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez
Theses and Dissertations
Intellectual disability (ID) refers to reduced cognitive function, apparent before the age of 18, that negatively affects a person's learning and adaptive capacity. Approximately 1-3% of the population is affected with ID, males more than females, and most in the mild-to-moderate range. ID creates financial, logistical and psychosocial challenges for affected persons and their families and caregivers. It is estimated that up to 50% of ID has a genetic cause. Molecular genetic diagnosis may help in obtaining services and has important implications for family members, but can be elusive. Genes causing ID are known to be over-represented on the X …