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Articles 1 - 10 of 10
Full-Text Articles in Medicine and Health Sciences
Assessing The Impact Of Camp Phever On Blood Phenylalanine Levels, Michelle Zelnick
Assessing The Impact Of Camp Phever On Blood Phenylalanine Levels, Michelle Zelnick
Dissertations & Theses (Open Access)
Phenylketonuria (PKU) is a metabolic disorder that results in accumulation of the amino acid, phenylalanine, throughout the body. This can result in neurocognitive complications if individuals with this disease do not follow a low-protein diet. Camp PHEver is a weeklong summer camp that gives children with PKU an opportunity to obtain skills related to diet compliance, but also enhance their confidence, relationship development, and independence. Through learned skills and the strict diet regimen at camp, campers were found to have a statistically significant drop in phenylalanine (PHE) levels within a single attendance (mean decrease per year range = 2.1 to …
Genetics In The Nicu: Nurses’ Perceived Knowledge And Desired Education, Kathleen Shields
Genetics In The Nicu: Nurses’ Perceived Knowledge And Desired Education, Kathleen Shields
Dissertations & Theses (Open Access)
A large proportion of infants admitted to neonatal intensive care units (NICUs) have genetic conditions. NICU nurses play an important role in providing comprehensive care to these patients and their families. Previous research has demonstrated gaps exist in the genetics knowledge of nurses and that they lack comfort applying genetics information to clinical practice, but no research has been done assessing the knowledge of or comfort with genetics of NICU nurses specifically. NICU nurses (n=122) completed an online survey assessing their perceived knowledge of genetics, comfort with clinical scenarios involving genetics, and desired genetics education. Participants reported the highest levels …
Investigating Barriers Experienced By Underrepresented Minorities In Becoming A Competitive Genetic Counseling Applicant, Katie Huang
Dissertations & Theses (Open Access)
Representation for both racial/ethnic and gender identity minorities in genetic counseling (GC) remains the lowest among similar healthcare professions. Barriers that underrepresented minority (URM) individuals face in becoming a competitive GC applicant have not yet been described. Academic capital (AC) is a theoretical framework describing the social processes necessary for individuals to navigate and succeed in higher education. This study aimed to characterize barriers experienced by applicants who self-identify as underrepresented and to explore how AC could identify areas for intervention. Prospective GC applicants for the 2021/2022 cycles were recruited to complete an anonymous online survey in Qualtrics through a …
Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions, Sara Wofford
Dissertations & Theses (Open Access)
Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists …
Ethnic Identity And Teratogenic Risk Perceptions, Katie M. Chan
Ethnic Identity And Teratogenic Risk Perceptions, Katie M. Chan
Dissertations & Theses (Open Access)
Elevated perceptions of teratogenic risk can cause anxiety and confusion among pregnant women. To assess whether ethnic identity and demographic factors can influence teratogenic risk perceptions, 194 pregnant women in Houston were surveyed using the Multigroup Ethnic Identity Measure (MEIM) and visual analog scales to quantify perceptions of teratogenic risk for common exposures during pregnancy. Overall, participants estimated an elevated baseline risk of 25% for birth defects among the general population. In addition, participants overestimated birth defect risks for specific exposures, such as alcohol and marijuana. Based on the MEIM scores, ethnic identity was not significantly associated with teratogenic risk …
Effect Of Photographs Of Visible Genetic Conditions On Quality Of Life Perceptions, Christina Falugi
Effect Of Photographs Of Visible Genetic Conditions On Quality Of Life Perceptions, Christina Falugi
Dissertations & Theses (Open Access)
Historically, medical photographs are used to demonstrate dysmorphic features and characteristic presentations of genetic conditions. Traditional, pictorial depictions of genetic conditions typically involve nude subjects against walls to emphasize their features. These stark, black and white photographs may negatively influence students’ perceptions of the depicted individual. Natural photographs which include individuals in non-clinical environments may impact perceptions. To assess the influence of photographs on a viewer’s perception, 649 students from medical, nursing, genetic counseling and dental programs were surveyed in a cross-over study. Students were randomized to view a traditional or a natural photograph of three distinct genetic conditions followed …
Obstetrician And Gynecologist Utilization Of The Nipt Expanded Testing Option, Sarah Mayes Ba
Obstetrician And Gynecologist Utilization Of The Nipt Expanded Testing Option, Sarah Mayes Ba
Dissertations & Theses (Open Access)
Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. Although the accuracy of NIPT for fetal aneuploidy is expected to be higher than that of currently available alternative maternal serum screening options, the implications of results are not straight forward. In October 2013, the option to screen for additional trisomies and select microdeletion syndromes, such as 22q11.2 deletion syndrome and 5 p- syndrome, became clinically available. Due to this rapidly evolving prenatal screening technology, clinicians must …
Latinas And The Traditional Genetic Counseling Model: A Qualitative Study, Stephanie Thompson
Latinas And The Traditional Genetic Counseling Model: A Qualitative Study, Stephanie Thompson
Dissertations & Theses (Open Access)
The traditional genetic counseling model reflects an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance providing educational information with discussion of implications of this information in an allotted amount of time. The aim of this study was to explore the perceptions of pregnant Latinas on the benefits and limitations of the traditional prenatal genetic counseling model and to determine the specific preferences for receiving prenatal genetic counseling. Data were collected through focus groups and one-on-one, semi-structured interviews of twenty-five Spanish speaking Latinas …
Evaluation Of Knowledge Regarding Diagnostic Strategies For Genetic Diseases In Select Residents, Samantha Penney
Evaluation Of Knowledge Regarding Diagnostic Strategies For Genetic Diseases In Select Residents, Samantha Penney
Dissertations & Theses (Open Access)
Genetics education for physicians has been a popular publication topic in the United States and in Europe for over 20 years. Decreasing numbers of medical genetics professionals and an increasing volume of genetic information has created a dire need for increased genetics training in medical school and in clinical practice. This study aimed to assess how well pediatrics-focused primary care physicians apply their general genetics knowledge to clinical genetic testing using scenario-based questions. We chose to specifically focus on knowledge of the diagnostic applicability of Chromosomal Microarray (CMA) technology in pediatrics because of its recent recommendation by the International Standard …
The Effect Of Proximity, Explicitness, And Representation Of Basic Science Information On Student Clinical Problem-Solving, Kimberly Ann Smith
The Effect Of Proximity, Explicitness, And Representation Of Basic Science Information On Student Clinical Problem-Solving, Kimberly Ann Smith
Dissertations & Theses (Open Access)
Problem: Medical and veterinary students memorize facts but then have difficulty applying those facts in clinical problem solving. Cognitive engineering research suggests that the inability of medical and veterinary students to infer concepts from facts may be due in part to specific features of how information is represented and organized in educational materials. First, physical separation of pieces of information may increase the cognitive load on the student. Second, information that is necessary but not explicitly stated may also contribute to the student’s cognitive load. Finally, the types of representations – textual or graphical – may also support or hinder …