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 32 for “"Congenital heart defects"”.
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Integrated approaches to elucidate the genetic architecture of congenital heart defects
Congenital heart defects (CHD) are structural anomalies affecting the heart, are found in 1% of the population and arise during early stages of embryo development. Without surgical and medical interventions, most of the severe CHD cases would not survive after the first year of life. The improved …
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Analysing small-sample-sized methylation data to identify biomarkers for congenital heart defects
Congenital Heart Defects (CHDs) are the most common type of human congenital anomaly, representing 0.8~1.2% of infants at birth and accounting for over 40% of prenatal deaths. Although the exact aetiology remains a significant challenge, epigenetic modifications, such as Deoxyribonucleic Acid (DNA) …
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
Background: Congenital heart disease (CHD) is the leading non-infectious cause of paediatric morbidity and mortality worldwide and a significant social and healthcare burden. The aetiology of CHD is poorly understood, though heritable genetic factors including copy number variants (CNVs) have been …
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Economic evaluation of antenatal screening for Down Syndrome and serious congenital heart defects in Norway
… with the detection of foetal anomalies or defects, such as Down syndrome, congenital heart defects or neural tube defects. The detection can in some cases lead to the pregnancy being terminated, whilst in other cases it may prepare the parents for a life with a child who may requiremore …
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Investigating Parenting Stress And Neurodevelopment In Infants With Congenital Heart Defects During The First Year Of Life
… of infants with CHD, the most prevalent group of congenital anomalies, experience increased parenting stress levels. These can potentially interfere with the normal parenting process, and with establishing a healthy parent-child relationship, which are important for proper development during …
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The Relationships Between Parenting Stress, Growth, and Development in Infants with Congenital Heart Defects During the First Six Months of Life
… diagnosis and hospitalization for their infant’s congenital heart defect (CHD) is well recognized by healthcare professionals. Increased parenting stress has been negatively correlated with development in low birthweight infants. The primary purpose of this study was to explore the parenting …
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Cerebral Hemodynamics in High-Risk Neonates Probed by Diffuse Optical Spectroscopies
… preterm infants, and infants born with complex congenital heart defects. For validation of DCS in neonates, the blood flow index quantified by DCS is shown to correlate well with velocity measurements in the middle cerebral artery acquired by transcranial Doppler ultrasound. In patients with …
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Primary caregivers’ experiences of caring for their child post cardiac intervention: An exploratory study
… catheter-based interventions for the repair of congenital heart defects. Despite the technically advanced treatment options and improved survival rates of children with congenital heart defects, little is known about the experiences and challenges of primary caregivers whilst taking care of …
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An exploration of the molecular mechanisms underlying the effects of hyperglycaemia on the autorrhythmicity of cardiac-like stem cells
… hyperglycaemia is a major risk factor for heart rhythm disturbances. Hyperglycaemia during pregnancy is particularly concerning, as offspring of poorly controlled diabetic mothers are at an increased risk of developing life-long serious cardiovascular complications. Although structural …
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Fluid Flow Forces Regulate Fibrous Extracellular Matrix Protein Expression and Deposition Via A Rhoa/Rho Kinase Dependent Pathway During Atrioventricular Valve Development
<p> Today, congenital heart defects are collectively the most common birth defect as well as the leading cause of birth defect related deaths, which often require surgical procedures, a lifetime of medications and preventative measures on the patient to maintain a working heart and a healthy body. …
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Engineering Biodegradable Vascular Scaffolds for Congenital Heart Disease
The most common birth defects worldwide are congenital heart defects. To treat these malformations in a child’s cardiovascular system, synthetic grafts have been used as a primary intervention. However, current grafts suffer from deficiencies such as minimal biological compatibility, inability to …
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BUBR1 in Cardiac Biology: From Cardiogenesis to Adult Heart Function and Aging
Congenital heart defects and cardiac diseases associated with aging such as heart failure are leading contributors to morbidity and mortality worldwide, yet their underlying molecular mechanisms remain incompletely understood. This dissertation investigates the role of BubR1, a mitotic checkpoint …
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Paediatric cardiac anaesthesia in sickle cell disease : a case series
… and mortality. Paediatric patients with SCD and congenital heart defects may require anaesthesia for corrective cardiac surgery on cardiopulmonary bypass (CPB). During the perioperative period these high-risk patients may suffer significant complications when exposed to the conditions that favour …
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Molecular mediators of cardiac-specific enhancer activation
… genetic pathways responsible for development. Heart development is particularly sensitive to precise control of gene programs as faulty regulation leads to congenital heart defects (CHD), the leading cause of infant mortality. Although sets of TFs have known roles in heart development, in most …
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Attitudes of Clinicians to wards Cardiac Surgery and Trisomy 18
… trisomy characterized by minor to major birth defects, severe disabilities, and high rates of pre- and neonatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding surgical treatment of …
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Patients Referred to the Paediatric Cardiology Outpatient Services at Red Cross War Memorial Children's Hospital in 2018: A review of demographics, referral patterns, diagnoses and clinical outcomes
… Eighty percent (n=501) had structurally normal hearts. The majority of the remainder with confirmed CVD (98%, n=122) had congenital heart defects. Median age of the cohort with CVD was 3.9 months (IQR: 2.6-12.0) with a slight female preponderance (55%). Thirty-four (28%) patients were scheduled …
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Yap and Taz Are Required For Neural Crest-Derived Cardiovascular Development
<p>Congenital heart defects (CHDs) are the most common human birth defect, occurring in ~1/100 newborns, and are a leading cause of early infant death. Cardiac neural crest cells (NCCs) are a migratory and multipotent cell population known to aid in the development of the cardiac outflow tract …
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Comparison of dispersion metrics for estimating transcriptional noise in single-cell RNA-seq data and applications to cardiomyocyte biology
… in two publicly available datasets studying congenital heart defects in mouse models. We first found that change in transcriptional variability does not correlate with gene characteristics such as transcript level and evolutionary gene age. We also found that using change in transcriptional …
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MOLECULAR CHARACTERIZATION OF THE PUTATIVE NUCLEOTIDE- BINDING AND HYDROLYZING ACTIVITIES OF THE ELLIS VAN CREVELD (EVC) PROTEIN
… fingers or toes, malformed teeth and nails, and congenital heart defects. Mutations in two genes, EVC and EVC2, which are located on chromosome 4, have been shown to be responsible for EvC syndrome. The protein products of these genes, EVC and EVC2 physically interact and together, they are …
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Do Down's Syndrome patients in Scotland have access to appropriate treatment and support for aggressive periodontal disease?
… across racial groups. Characteristics include congenital heart defects, and an impaired immune system.
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