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Showing 1 to 20 of 25 for “"diagnostic yield"”.

  1. Diagnostic Yield of Cervical Radiographs in Infants with Deformational Plagiocephaly

    The general metadata -- e.g., title, author, abstract, subject headings, etc. -- is publicly available, but access to the submitted files is restricted to UT Southwestern campus access and/or authorized UT Southwestern users.

    utswmed Repository record for Diagnostic Yield of Cervical Radiographs in Infants with Deformational Plagiocephaly (opens in a new tab)

  2. Diagnostic yield of tuberculosis investigations on bone marrow biopsy samples in HIV positive patients at Groote Schuur Hospital

    … MTB/RIF Ultra assay may provide a more sensitive diagnostic test on bone marrow biopsy samples. Methods: We conducted a two-stage study in a tertiary hospital in South Africa, initially assessing the retrospective yield of TB diagnoses on bone marrow biopsies in adult HIV-positive participants …

    cape-town Repository record for Diagnostic yield of tuberculosis investigations on bone marrow biopsy samples in HIV positive patients at Groote Schuur Hospital (opens in a new tab)

  3. The diagnostic yield of computerised tomography in human immunodeficiency virus (HIV) positive psychiatric patients at a tertiary hospital in the Western Cape

    … Neuroimaging is an important part of the diagnostic workup in HIV+ psychiatric patients; CT is the primary neuroimaging modality available in resource limited settings. Despite advances in neuroimaging no clear guidelines exist for the use of CT in psychiatric settings. Objective. To …

    cape-town Repository record for The diagnostic yield of computerised tomography in human immunodeficiency virus (HIV) positive psychiatric patients at a tertiary hospital in the Western Cape (opens in a new tab)

  4. Exploring The Potential Yield of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities

    … undertake, there is limited information on the diagnostic yield of the varying testing options. Some women may miss an opportunity to gain the information they are seeking or make a less informed decision when they choose a testing option after identification of a structural abnormality due to …

    uthsc Repository record for Exploring The Potential Yield of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities (opens in a new tab)

  5. Targeted re-sequencing of a large South African cardiomyopathy cohort

    … (58%) and Mixed ancestry (33%). We reported a diagnostic yield of 16.9% (76/450) for the DCM probands, where 68.4% of the probands had pathogenic TTN truncating variants. The adult HCM cohort constituted 10.1% (60/594) of the IMHOTEP study probands, with a mean age of 41.3 years at diagnosis …

    cape-town Repository record for Targeted re-sequencing of a large South African cardiomyopathy cohort (opens in a new tab)

  6. Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

    <p>This study investigates the difference in diagnostic yield between patients approved for inpatient genetic testing compared to those denied inpatient testing and the effect of an earlier diagnosis on outcomes and medical/clinical care. In the literature, research has explored the impact of a …

    uthsc Repository record for Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes (opens in a new tab)

  7. Genetic basis of inherited kidney and related tumours

    … evaluation was undertaken which showed a low diagnostic yield (2-3%) for a current clinical RCC panel consisting of 6 genes (*BAP1*, *FH*, *FLCN*, *MET*, *SDHB*, *VHL*). Following this I explored whether a larger panel consisting of 121 cancer susceptibility genes (CSGs) would increase the …

    cambridge Repository record for Genetic basis of inherited kidney and related tumours (opens in a new tab)

  8. Investigation of the genetic basis of multiple primary renal tumours

    … of MPRT/MPT:RCC+X is limited. To inform diagnostic approaches to MPRT/MPT:RCC+X we present the findings of comprehensive genomic analysis in 534 individuals. The presence/absence of variants in cancer susceptibility genes (CSGs) from exome/genome sequencing was then correlated with data …

    cambridge Repository record for Investigation of the genetic basis of multiple primary renal tumours (opens in a new tab)

  9. Assessing Patient Attitudes to ward Genetic Testing For Hereditary Hematologic Malignancy

    … hematologic malignancy (HHM). Although the diagnostic yield of germline analysis for leukemia is similar to solid tumors, referral for genetic evaluation in adults with leukemia is underperformed. Identifying HHM is important for prognostication, treatment, and donor selection for …

    uthsc Repository record for Assessing Patient Attitudes to ward Genetic Testing For Hereditary Hematologic Malignancy (opens in a new tab)

  10. Knowledge Translation in the Era of Precision Diagnostics: Examining the Use of Clinical Exome and Genome Sequencing for Rare Genetic Disease Diagnosis

    … to ES/GS and how it has been translated into diagnostic care for families with RGDs to inform practice and policy in the future. Guided by the Knowledge-to-Action (KTA) conceptual framework, I designed and conducted three original studies: two aimed to generate evidence related to the KTA …

    ottawa-retro Repository record for Knowledge Translation in the Era of Precision Diagnostics: Examining the Use of Clinical Exome and Genome Sequencing for Rare Genetic Disease Diagnosis (opens in a new tab)

  11. International Academy of Cytology Yokohama System for reporting Breast Fine Needle Aspiration Biopsy (FNAB) cytology: A Retrospective Study in a Single South African Tertiary Institution

    … (CNB) is the gold standard and the preferred diagnostic modality, there is still a role for fine needle aspirate cytology (FNAC) in resource limited settings. The present study was conducted at Groote Schuur Hospital in Cape Town, South Africa. Aims: 1. To assess the utility of the …

    cape-town Repository record for International Academy of Cytology Yokohama System for reporting Breast Fine Needle Aspiration Biopsy (FNAB) cytology: A Retrospective Study in a Single South African Tertiary Institution (opens in a new tab)

  12. Efficacy of Genetic Testing Methodologies for Prenatal Detection of Skeletal Anomalies and Craniosynostosis Syndromes

    … screening tests using cell-free fetal DNA to diagnostic tests which include next generation sequencing panels and whole exome or genome sequencing. We aimed to determine which prenatal genetic tests were capable of identifying disease causing variants in pregnancies suspected to have skeletal …

    uthsc Repository record for Efficacy of Genetic Testing Methodologies for Prenatal Detection of Skeletal Anomalies and Craniosynostosis Syndromes (opens in a new tab)

  13. The utility of the 1994 versus the revised 2010 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Task Force diagnostic criteria for identifying mutation-positive probands with ARVC

    … Program) study with the aim of identifying diagnostic changes that may have clinical impact. Method: 162 participants with the suspicion of ARVC were referred between May 2003 and May 2018 to our ARVC registry. 150 cases were reviewed using the same ECG and imaging data to fulfil both TFC, …

    cape-town Repository record for The utility of the 1994 versus the revised 2010 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Task Force diagnostic criteria for identifying mutation-positive probands with ARVC (opens in a new tab)

  14. Genome-Wide Human-Specific RNA Regulatory Elements in the Brain

    … be learned. It is estimated that the molecular diagnostic rate of whole exome sequencing (WES) of constitutional diseases is between 9-41%; however, it is thought that diagnostic yield could be much improved by gaining a better understanding of individual variation and regulation at the …

    rockefeller Repository record for Genome-Wide Human-Specific RNA Regulatory Elements in the Brain (opens in a new tab)

  15. The clinical utility of tissue polymerase chain reaction, tissue culture, and tissue histology in blood-culture negative infective endocarditis - a South African single hospital experience

    … Infective endocarditis (IE) poses significant diagnostic and therapeutic challenges, especially in blood culture-negative infective endocarditis (BCNIE) cases. Appropriate antimicrobial therapy is guided by knowledge of the causative organisms and their characteristics. Amongst patients …

    cape-town Repository record for The clinical utility of tissue polymerase chain reaction, tissue culture, and tissue histology in blood-culture negative infective endocarditis - a South African single hospital experience (opens in a new tab)

  16. High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders

    … performant methodology will greatly improve the diagnostic yield in patients with unexplained mental retardation, provide more insights into genotype-phenotype correlations and ultimately lead to the identification of the causal genes. Functional studies of these gene products will enhance our …

    ghent Repository record for High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders (opens in a new tab)

  17. A Retrospective review of medical gastrointestinal endoscopy in children attending Red Cross War Memorial Children’s Hospital, Cape Town

    … endoscopy has evolved to become an important diagnostic, therapeutic as well as surveillance and follow-up modes of management in children with diverse gastrointestinal diseases. There is a paucity of data on gastrointestinal endoscopy in children in the sub- Saharan African region. The …

    cape-town Repository record for A Retrospective review of medical gastrointestinal endoscopy in children attending Red Cross War Memorial Children’s Hospital, Cape Town (opens in a new tab)

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