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Identification And Characterization Of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome, Carlos C. Vera Recio Aug 2021

Identification And Characterization Of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome, Carlos C. Vera Recio

Dissertations & Theses (Open Access)

Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome caused by a deleterious mutation in TP53. An estimated 48% of LFS patients present due to a de novo mutation (DNM) in TP53. The knowledge of DNM status, DNM or familial mutation (FM), of an LFS patient requires genetic testing of both parents which is often inaccessible, making de novo LFS patients difficult to study. Famdenovo.TP53 is a Mendelian Risk prediction model used to predict DNM status of TP53 mutation carriers based on the cancer-family history and several input genetic parameters, including disease-gene penetrance. The good predictive performance of Famdenovo.TP53 was demonstrated …


Statistical Methods For Resolving Intratumor Heterogeneity With Single-Cell Dna Sequencing, Alexander Davis Aug 2020

Statistical Methods For Resolving Intratumor Heterogeneity With Single-Cell Dna Sequencing, Alexander Davis

Dissertations & Theses (Open Access)

Tumor cells have heterogeneous genotypes, which drives progression and treatment resistance. Such genetic intratumor heterogeneity plays a role in the process of clonal evolution that underlies tumor progression and treatment resistance. Single-cell DNA sequencing is a promising experimental method for studying intratumor heterogeneity, but brings unique statistical challenges in interpreting the resulting data. Researchers lack methods to determine whether sufficiently many cells have been sampled from a tumor. In addition, there are no proven computational methods for determining the ploidy of a cell, a necessary step in the determination of copy number. In this work, software for calculating probabilities from …


The Relationship Between Self-Determination And Client Outcomes Among The Homeless, Samuel M. Hanna Jun 2015

The Relationship Between Self-Determination And Client Outcomes Among The Homeless, Samuel M. Hanna

Electronic Theses, Projects, and Dissertations

This paper has attempted to determine if there is a significant relationship between self-determination and client outcomes among the homeless. The study has been based upon the conceptual framework set forth in Self-Determination Theory. The purpose of the study was to explore the relationship between self-determination and client outcomes among the homeless. Using a data collection instrument, based on empirically validated instrumentation, clients from several homeless service providers in the City of San Bernardino were assessed for the level of self-determination and autonomy support they experience within these agencies. Outcome measures included such things as whether the client was going …


Image Quality Of Energy-Dependent Approaches For X-Ray Angiography, Jesse Evan Tanguay Sep 2013

Image Quality Of Energy-Dependent Approaches For X-Ray Angiography, Jesse Evan Tanguay

Electronic Thesis and Dissertation Repository

Digital subtraction angiography (DSA) is an x-ray-based imaging method widely used for diagnosis and treatment of patients with vascular disease. This technique uses subtraction of images acquired before and after injection of an iodinated contrast agent to generate iodine-specific images. While it is extremely successful at imaging structures that are near-stationary over a period of several seconds, motion artifacts can result in poor image quality with uncooperative patients and DSA is rarely used for coronary applications.

Alternative methods of generating iodine-specific images with reduced motion artifacts might exploit the energy-dependence of x-ray attenuation in a patient. This could be performed …


Conformational Analysis Of Nonsteroidal Estrogen Analogs, Robert N. Spady Mar 1983

Conformational Analysis Of Nonsteroidal Estrogen Analogs, Robert N. Spady

Loma Linda University Electronic Theses, Dissertations & Projects

In target tissue, estrogens initiate a series of events, ending in protein synthesis, by binding to a cytoplasmic receptor. Once the estrogen binds, the receptor complex is activated--a process including dimerization of the estrogen complex with another subunit. In order to study the possible receptor-ligand interactions, conformational analysis was performed on several nonsteroidal estrogen analogs, using the CAMSEQ8 molecular mechanics program.

The probability that a molecule will exist in a given conformational energy well depends both on the energy and the shape of the well. A method has been previously worked out to calculate probabilities using both of these variables, …