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Full-Text Articles in Analytical, Diagnostic and Therapeutic Techniques and Equipment
Molecular And Cellular Investigations Of Prader-Willi Syndrome, Anna K. Victor
Molecular And Cellular Investigations Of Prader-Willi Syndrome, Anna K. Victor
Theses and Dissertations (ETD)
Prader-Willi syndrome (PWS) is a complex multigenic neurodevelopmental disorder resulting in hypotonia, developmental delay, hypogonadism, sleep dysfunction and childhood onset obesity affecting 1 in 10,000 to 30,000 individuals. PWS is an imprinting disorder that is caused by a loss of expression of maternally imprinted genes in the 15q11.2-q13 region including NDN, MAGEL2, SNRPN/SNURF, and a cluster of snoRNAs. The majority of cases are caused by inheriting a paternal allele deletion of this region (65-75%) and a smaller number are caused by chromosome 15 maternal uniparental disomy (UPD) (20-30%) or imprinting center defects (1-3%). Here, we used dental pulp stem cells …
The Uncertainty And Psychological Health Of Family Caregivers Of Patients With Delirium In Intensive Care Units, Amal Shokri Haji Assa
The Uncertainty And Psychological Health Of Family Caregivers Of Patients With Delirium In Intensive Care Units, Amal Shokri Haji Assa
Theses and Dissertations (ETD)
Each year, more than 5 million patients are admitted to an intensive care unit (ICU) in the United States, and up to 80 % of these patients develop delirium. Delirium is a common indicator of acute brain dysfunction in the ICU and a predictor of mortality, longer ICU/hospital stay, and long-term cognitive impairment. Family caregivers are a valuable resource in preventing, detecting, and managing delirium in the ICU. However, witnessing delirium episodes can generate adverse psychological symptoms in family caregivers that may compromise their health and well-being. Research in this area has demonstrated a gap in the literature regarding how …
Immunomodulatory Roles Of The Lysosomal Sialidase Neuraminidase 1, Leigh Ellen Fremuth
Immunomodulatory Roles Of The Lysosomal Sialidase Neuraminidase 1, Leigh Ellen Fremuth
Theses and Dissertations (ETD)
Background Sialic acids are key sugar moieties located at the non-reducing terminals of glycan chains on glycoproteins and glycolipids. By virtue of their location, they influence the functions and biochemical properties of the macromolecules they are bound to. Removal of sialic acids in mammalian cells is carried out by four sialidases, which are differentially expressed and localized in distinct subcellular compartments. Neuraminidase 1 (NEU1), the most abundant and ubiquitous of the four sialidases, functions primarily in the acidic environment of the lysosomes, but can hydrolyze substrates at the plasma membrane, at least in certain cell types. The enzyme initiates the …
Developing Deep-Learning Methods For Diagnosis And Prognosis Of Pediatric Progressive Diseases Using Modern Imaging Techniques, Mahdieh Shabanian
Developing Deep-Learning Methods For Diagnosis And Prognosis Of Pediatric Progressive Diseases Using Modern Imaging Techniques, Mahdieh Shabanian
Theses and Dissertations (ETD)
Purpose and Rationale. Central nervous system manifestations form a significant burden of disease in young children. There have been efforts to correlate the neurological disease state in tuberous sclerosis complex (TSC) neurological disease state with imaging findings is a standard part of patient care. However, such analysis of neuroimaging is time- and labor-intensive. Automated approaches to these tasks are needed to improve speed, accuracy, and availability. Automated medical image analysis tools based on 3D/2D deep learning algorithms can help improve the quality and consistency of image diagnosis and interpretation for cognitive disorders in infants. We propose to automate neuroimaging analysis …
Early Diagnosis Of Alzheimer’S Disease In The Primary Care Setting, Raymond R. Romano
Early Diagnosis Of Alzheimer’S Disease In The Primary Care Setting, Raymond R. Romano
Theses and Dissertations (ETD)
The burden of Alzheimer’s disease (AD) affects not just the individual but also families, providers, and society. Early recognition and diagnosis of AD may reduce cost by reducing interaction with the health care system, earlier initiation of treatment, and prolonging time to long- term care. Primary care providers, the first contact for diagnosis of patients with AD, are not fulfilling the potential of early diagnosis for a variety of reasons. Biomarkers of AD emerge on average 15 to 20 years before clinical diagnosis, yet currently established biomarkers are not easily available in the primary care setting. A growing body of …