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 22 for “"Molecular testing"”.
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Efficacy of Genetic Testing Methodologies for Prenatal Detection of Skeletal Anomalies and Craniosynostosis Syndromes
… guidance, though we noted in this study that molecular testing is most informative in making a diagnosis. Prenatal genetic testing ranges from screening tests using cell-free fetal DNA to diagnostic tests which include next generation sequencing panels and whole exome or genome sequencing. We …
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Detection and Identification of Gastrointestinal Pathogens in Clinical Samples: Comparison Between two Laboratory Developed Multiplex Real-Time PCR Platforms
… biochemical identification, and serological testing, are labor intensive, time-consuming, and lack specificity and sensitivity. In recent years, multiplex molecular testing has made its way into the clinical laboratory for detection and identification of enteric pathogens directly from …
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Implementation of a Laboratory Information Management System To Manage Genomic Samples
… the drug development process due to advances in molecular testing technology. This technology evaluates genomic material for disease markers and provides efficient, cost-effective, and accurate results for a growing number of clinical indications. The preparation of the genomic samples for …
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Cytogenetically normal acute myeloid leukaemia at a single centre in South Africa
Introduction The heterogeneous molecular landscape of cytogenetically normal acute myeloid leukaemia (CN-AML) renders it an ongoing therapeutic challenge worldwide. The latest European LeukaemiaNet (ELN) 2017 guidelines attempt to address this by guiding post-remission therapy according to six …
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New Clinical Guidelines for Cervical Cancer Screening and the Benefits of Implementing a Primary High-risk Human Papillomavirus Test in a High Volume Reference Laboratory
… Service Task Force (USPSTF) agreed co-testing with cytology based Papanicolaou smear (Pap smear) and molecular based high-risk Human Papillomavirus (hrHPV) testing were the best methods for detecting early signs of cervical cancer. However, with the future of clinical tests shifting …
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The human myeloproliferative disorders: molecular pathogenesis and clonal heterogeneity
… clinical or histopathological subtype of ET, molecular testing provides an important new tool in the diagnostic armamentarium. Clones homozygous for the JAK2 V617F mutation were identified in female but not male patients with ET, suggesting that gender differences may be important in the …
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Computational Frameworks to Interpret Genetic Abnormalities in Hematologic Malignancies
… Although it is undoubtedly the future of molecular testing and monitoring, computational methods to interpret results at single and longitudinal time points are highly in need. Thus, this thesis is devoted to mining clinically and scientifically meaningful information from NGS data in the …
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Aetiology and presentation of childhood pleural infections in the post-pneumococcal conjugate vaccine era in South Africa
… of PE in 20% of children was underdetermined. Molecular testing of pleural fluid for respiratory pathogens may be useful in such children.
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Automatic Tumour Typing based on Patterns of Somatic Passenger Mutations
… primary tumour. Despite advances in molecular testing, imaging, and pathology, the primary tumour site cannot be inferred in the majority of these cases. Recent large- scale analysis of cancer genomes has uncovered strong associations between cancer type and somatic mutations, …
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Development and Evaluation of a Multiplex Suspension Array Protocol for the Detection of Enteric Pathogens from Clinical Specimens
… laboratories employ a variety of traditional and molecular testing techniques to identify foodborne outbreak etiologic agents. One technology is the Luminex XMap® microsphere system, which is also marketed as the Bio-Plex™ 200. This platform has a multiplexing capability with the potential to …
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Passive surveillance of STI pathogens in Cape Town, South Africa: A six-month molecular epidemiology study
… prevalence and to evaluate the potential of a molecular assay as a surveillance tool in our setting. Methods: Urogenital swabs, submitted to Groote Schuur Hospital over a period of 6 months, for routine microbiological investigations, were subjected to a commercial multiplex PCR assay to …
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Investigating the clinicopathological spectrum and associated genetics of colorectal carcinoma in young (<60 years of age) patients in the Western Cape Province
… the burden of downstream immunohistochemical and molecular testing in our resource limited setting. Whole exome sequencing was performed on a subset of the research cohort. Eighty-three cases were included in the analysis (77 MSS, 4 MSI, 2 POL). APC, TP53 and KRAS were among the most frequently …
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Cost-utility analysis of EML4-ALK fusion testing followed by treatment with crizotinib in patients with Non-Small Cell Lung Cancer (NSCLC)
… Advances have been made in understanding the molecular mechanisms of lung cancer. The discovery of new biomarkers, driver mutations and signaling pathways in NSCLC has changed the treatment strategy for patients with NSCLC. 'Targeted therapies' or 'personalized medicine' in NSCLC include …
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Long-term outcomes of women treated for high-grade squamous intraepithelial lesions at a University Hospital colposcopy unit in South Africa. A 5-year retrospective cohort study
… use of high-risk human papillomavirus (hrHPV) molecular testing. Before South Africa (SA) adopts this technology in the public sector, health funders will need data on the performance of the current cytology and colposcopy-based programmes. This study was done to establish baseline data on the …
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The histopathology and immunohistochemical expression of cell cycle regulators and mismatch repair gene proteins in colorectal carcinoma : a comparative study
… markers may be indicators of the underlying molecular mechanism. In a resource limited setting these factors may help to stratify which cases need further molecular testing and genetic counselling. Aims and objectives: To characterise the macroscopic and microscopic pathology in three cohorts …
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Craniosynostosis in a South Africa population
… surgical interventions and results of genetic testing in this cohort is described. Descriptive statistical analysis was used. Results: A total of 47 children with craniosynostosis were included in this study. Twenty-five individuals of the cohort were male, and one patient has a disorder of …
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Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing
… Western world has tremendously facilitated the molecular diagnosis of RASopathies. Molecular testing for NS is not yet available in South Africa, nor has any study investigating NS from clinical and molecular perspectives been conducted in South Africans. Aim: The aim of this study was to …
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The Pneumococcus Urinary Antigen Test Kit: Use in the laboratory for the presumptive diagnosis of pneumococcal bacteraemia
… also potentially be a suitable alternative to molecular testing for S. pneumoniae identification in samples with no growth on culture.
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Emydomyces testavorans infection in aquatic chelonians
… at the leading edge of these lesions. Initial molecular testing detected fungal DNA that was similar to these known reptile pathogens, but sequence analysis could not identify the organism to the genus or species level. The research contained within this dissertation was initiated in order to …
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