Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 27 for “"genetic condition"”.
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A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis
… possible to test for a wide range of congenital conditions (Hewison et al., 2007). Traditionally testing has been carried out during pregnancy (prenatal diagnosis, PND). However, advances in technology have made it possible for diagnosis of an embryo created through in vitro fertilisation, prior …
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Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
… to identify individuals at risk of rare genetic disorders. Premarital genetic testing (PMT) is currently provided at the two national genetic centres exclusively for family members deemed to be at risk, a strategy implemented as part of a familial-centred approach following the diagnosis. …
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Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration of Factors That Influence Uptake
<p>Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient …
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Prenatal Testing Decisions and Motivations In Pregnancies Conceived Via In Vitro Fertilization
… in vitro fertilization (IVF) and preimplantation genetic testing for aneuploidy (PGT-A) impact the decisions individuals make about prenatal genetic testing. This quantitative study aimed to examine the prenatal testing decisions made by pregnant individuals who conceived via IVF as well as to …
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How parents care for their child during a sickle cell crisis without medical intervention
Sickle cell disease (SCD) is a genetic condition that affects over 100,000 people in the United States. This disorder causes sickling of red blood cells resulting in painful sickle cell crisis, which is the leading cause of hospital admission for children living with SCD. Parents have the …
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Genetics In The Nicu: Nurses’ Perceived Knowledge and Desired Education
… 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 …
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The Potential of CRL4-DCAF1 and KSR1 as Therapeutic Targets in Low-grade Merlin-Deficient Tumours
… tumours can occur sporadically or as part of the genetic condition Neurofibromatosis type 2 (NF2) and cause significant morbidity. The current treatment options are restricted to surgery and radiotherapy, which are invasive and may cause further tumour development. The activity of both the E3 …
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Characterisation of Rhodopsin Retinitis Pigmentosa mutants located in Intradiscal Loop 1
Retinitis Pigmentosa (RP) is a genetic condition that results in blindness. There are several hundred RP mutations associated with rhodopsin, a photosensitive GPCR pigment found within rod cells of the retina. Previous studies have shown that many rhodopsin RP mutants fold incorrectly or affect …
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The ‘Telling Stories’ Project: A case series study of narrative interaction between children who use speech generating devices and their educational staff
… with autistic spectrum disorder and one with a genetic condition. Data collection took place at the school attended by each participant. Video capture was used to record one personal and one fictional narrative in four separate data collection sessions with each dyad. Data were transcribed using …
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'A common condition: a rare diagnosis?' What is the significance of diagnosis in Klinefelter’s Syndrome (47, xxy)?
… Syndrome (47,XXY) is a sporadic, non-inherited genetic condition occurring only in males where there is the presence of an additional X chromosome. Although not well known, Klinefelter's Syndrome is reported to be relatively common with an estimated incidence of between approximately 1/450 - …
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Characterization of NHLRC2 gene-edited mice: a model for bovine developmental duplications
Developmental duplications (DD) is a genetic condition recently characterized in Angus cattle. It is a congenital abnormality where duplication of neural crest derived tissues occurs during embryonic development. A common phenotypic presentation of the condition includes calves born with polymelia …
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The Effect of Optimism, Hope, and Religion On Mood and Anxiety Disorders Over Time In Women With the Fmr1 Premutation
<p>The FMR1 premutation is a common genetic condition estimated to occur in 1 of 130-250 females and in 1 in 250-800 males (Hagerman et al., 2009). The FMR1 premutation is caused by a CGG trinucleotide repeat expansion on the FMR1 gene. Though previously thought to pose no risk to the affected …
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Influential Factors for Disclosing a Tuberous Sclerosis Complex Diagnosis to Romantic Partners
… sclerosis complex (TSC) is a highly variable genetic condition characterized by multi-organ tumor predisposition. Due to the heritability, variability, and severity of this condition, individuals with TSC may face unique psychosocial challenges in dating and romantic relationships, …
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Patient Preferences for Ultrasound Soft Sign Disclosure with Prior Negative cfDNA Screening
… signs are insufficient to diagnose chromosome conditions but can adjust an individual's risk for aneuploidy, primarily Down syndrome. In the age of noninvasive cell-free DNA (cfDNA) prenatal screening, which exhibits superior sensitivity and specificity for aneuploidy compared to what can be …
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Identifying the benefits and disbenefits of clinical genetics services: a framework for economic evaluation
… in the area of economic evaluation of Clinical Genetic Services (CGSs) including the limited knowledge of psychosocial consequences of these services. This study aims to address this gap by identifying tangible and intangible benefits and disbenefits of CGSs and presenting these within a …
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The Malleability of Gene Regulation in Healthy Individuals: Analyzing CRISPR-based Screens with Single-Cell RNA-Sequencing Readout across Genetic Backgrounds
… that has driven the field of quantitative genetics since its inception, is that of understanding the relationship between genetic variation and complex traits. In the last few decades, genome-wide association (GWAS) and quantitative trait studies have implicated thousands of genetic loci in …
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The role of the amygdala in dreaming
… Urbach-Wiethe Disease (UWD) is a very rare genetic condition that can lead to calcifications in the medial temporal lobes. This study analysed 26 dream reports collected from eight adult UWD patients with fully calcified basolateral amygdalae bilaterally, and compared them to 58 dream …
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A qualitative study into the advocacy and activism of carers of adolescents with Down Syndrome in Oshana, Namibia
… care due to the disabling consequences of the genetic condition. Evidence is lacking about the actions that carers in remote rural communities are taking to enhance the rights of their adolescents with DS as enshrined in the United Nations Convention on the Rights of Persons with Disabilities …
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Exploration of the impact of genetic counselling and patient support group involvement on retinal degenerative disorders (RDD) patients: a qualitative study
… experiences of individuals within the clinical genetic service in South Africa, with inherited retinal disease. Methods: This qualitative research was based on a grounded theory approach. Semi-structured interviews were carried out after obtaining approval from the University of Cape Town …
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Inclusion of Adoption as a Pregnancy Management Option in Prenatal Genetic Counseling Practice
<p>Prenatal genetic counselors are essential to providing education, psychosocial support, and guidance on pregnancy options to patients who receive a fetal diagnosis of an anomaly or genetic condition. Therefore, genetic counselors should be well-educated on comprehensive pregnancy management …
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