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 49 for “"Congenital anomalies"”.
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Certain congenital anomalies : some psycho-social implications in adulthood
… implications in adulthood of being born with a congenital anomaly. The congenital anomalies - oesophageal atresia, Hirschsprung's disease and high anorectal malformations are surgically corrected at birth, but can be associated with residual problems. These problems could put patients at risk …
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The period prevalence of congenital cervical spine anomalies and the association between the congenital anomalies with the subject's presenting clinical features
A dissertation submitted in partial compliance with the requirements for a Master's Degree in Technology: Chiropractic, Durban Institute of Technology, Durban, South Africa, 2006.
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The burden of antenatally undiagnosed major congenital anomalies in live-born babies at a busy secondary level maternity hospital in the Western Cape
Background: Major congenital anomalies (MCA) account for considerable morbidity and disability in South Africa (SA) where there is a predicted birth prevalence of 27.5/1000 live births. There are limited data on MCA prevalence and impact on neonatal services in SA, especially the Western Cape …
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The burden of antenatally undiagnosed major congenital anomalies in live-born babies at a busy secondary level maternity hospital in the Western Cape
Background: Major congenital anomalies (MCA) account for considerable morbidity and disability in South Africa (SA) where there is a predicted birth prevalence of 27.5/1000 live births. There are limited data on MCA prevalence and impact on neonatal services in SA, especially the Western Cape …
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Uniparental disomy as a cause for congenital malformations and or developmental delay in inherited apparently balanced chromosomal rearrangements
… However the frequency of mental retardation and congenital anomalies appears to be increased among individuals who carry a de novo or an inherited apparently balanced chromosomal rearrangement [Funderburk et. al. 1977, Aymeet. al. 1979, Fryns et. al. 1986, Howard-Peebles and Friedman1986]. …
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The Novel Role of Dnmbp In Kidney Development
<p>Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for nearly one-fourth of all birth defects and more than 40% of pediatric end-stage renal disease, yet only 10-20% of CAKUT cases have a known monogenetic cause. Human kidneys are composed of up to a million epithelial tubules …
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3D Bioprinting Pediatric Trachea
Tracheal failures due to trauma, disease, or congenital anomalies, if not fatal, severely decrease quality of life. While small defects can be resolved surgically with resection and anastomosis, defects exceeding a critical length of trachea require graft material. This critical length varies from …
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Coverage of causes of death among women in 1991 magazines
… There was a lack of information on pneumonia, congenital anomalies, pregnancy, congestive obstructive pulmonary disease, and atherosclerosis. Minority issues were not specifically identified when mortality issues were discussed.
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Hereditary and inborn etiology of pediatric cancer
… study reviewed focuses on the association of rib anomalies and childhood cancer. Congenital anomalies have been associated with childhood cancer syndromes in many large epidemiological studies using population based registries. This study sought to better understand and more robustly describe the …
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A Novel Role For Dyrk1A In Kidney Development
<p>Congenital anomalies of the kidney and urinary tract (CAKUT) are a leading cause of pediatric kidney failure and encompass a wide range of structural malformations resulting from defects in morphogenesis. CAKUT occur in ∼1/500 live births and with an average wait time of 3-5 years for a kidney …
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Antiretroviral Regimen and Pregnancy Outcomes of Women Living with HIV in a US Cohort
… than women on NNRTI regimens. Additionally, six congenital anomalies were identified in this cohort, none of which were neural tube defects. There was no perinatal transmission of HIV to any of the infants. This small cohort of women provides high-quality data regarding the safety and efficacy of …
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Modeling Renal Anomalies Associated with Li-Fraumeni Patients: A Novel Role for p53 in Kidney Development
… have an increased prevalence of urogenital anomalies (36%) as compared with the general population (10%) [1]. Considering individuals with LFS are predisposed to cancer due to mutations in <em>TP53, </em>and they have a higher occurrence of congenital anomalies of the kidney and urinary …
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The Effect of Retinoic Acid on Rai1 and Identification of Retinoic Acid Receptor Binding Site in Human Rai1
… characterized by intellectual disability, congenital anomalies, obesity, neurobehavioral abnormalities, and disrupted circadian sleep-wake pattern. SMS is caused by deletion or mutation of chromosomal region 17p11.2 that includes RAI1. Studies in the Elsea lab have shown that RAI1 is a …
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Clinico-pathological characteristics and outcomes of nephrology adolescents and young adults in Cape Town: a single centre study
… of disease were glomerular 212 (72.6%), congenital anomalies of the urinary tract 31 (10.6%), and hereditary conditions 24 (8.2%). There was a significantly lower mortality (p=0.007) and reduction in LTFU (p=0.012) in the cohort attending the AYA clinic. A statistically significant …
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Evaluation of Knowledge Regarding Diagnostic Strategies For Genetic Diseases In Select Residents
… with developmental disabilities and/or congenital anomalies. Proficiency in ordering baseline genetic testing was evaluated for eighty-one respondents from four pediatrics-focused residencies (categorical pediatrics, pediatric neurology, internal medicine/pediatrics, and family practice) …
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Linkage studies of x-linked cleft palate and ankyloglossia in a British Columbia native kindred
… craniofacial malformations are a class of common congenital anomalies. Their etiology is heterogeneous and often poorly understood. To elucidate the nature of craniofacial defects at the molecular level, one approach is to study the exceptional examples of malformations which segregate in families …
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Surgical care of children born with birth defects in low and middle income countries [LMICs] using anorectal malformation [ARM] as a case study
Birth defects, also known as congenital anomalies, are one of the leading causes of infant mortality and lifelong disabilities worldwide. They disproportionately affect low and middle income countries [LMICs], where limited healthcare services, financial hardship, and societal stigma further …
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders
… in genomic imprinting, have been linked to congenital imprinting disorders as well as various disease conditions, including cancer, chromatin disorders, and neurodevelopmental disorders. Some imprinting disorders, however, result in alterations in multiple imprinted regions (MLID) for which …
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Midlife development and disability onset in a family context: a qualitative integration
… on disability has focused on individuals with congenital anomalies and birth defects, and has emphasized the medical aspects of various impairments. Investigations have centered on the treatment and management of problematic physical symptoms with little attention given to the meaning of …
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An Assessment of Obesity and Hyperphagia In Individuals With Smith-Magenis Syndrome
… syndrome (SMS;OMIM# 182290) is a multiple congenital anomalies and mental retardation syndrome caused by a 3.7- Mb deletion on chromosome 17p11.2 or a mutation in the RAI1 gene. Although the majority of the SMS phenotype has been well described, limited studies are available describing …
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