Anatomical Pathology
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Colonic perineurioma (benign fibroblastic polyp) : case report and review of the literature
(BioMed Central, 2018)Background: Colorectal perineuriomas are uncommon benign mucosal-based proliferations of mesenchymal cells that express perineurial markers, often associated with colonic crypts displaying a serrated/hyperplastic ...
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Exome sequencing in a family with luminal-type breast cancer underpinned by variation in the methylation pathway
(MDPI, 2017-02-22)ENGLISH ABSTRACT: Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain ...
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A biobank to support HIV malignancy research for sub-Saharan Africa
(Health & Medical Publishing Group, 2016)Sub-Saharan Africa has one of the highest incidences of infection with HIV globally, but more people in this region are living longer owing to increased access to antiretroviral therapy. However, along with increased care ...
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Histological and immunohistochemical evaluation of sentinel lymph nodes in breast cancer at a tertiary hospital in the Western Cape, South Africa
(Health & Medical Publishing Group, 2016-04-19)Background. Breast carcinoma remains the most prevalent cancer among women, with over 300 000 deaths annually worldwide. Axillary lymph node status is essential for the clinical staging of breast carcinoma and remains the ...
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Non-allopathic adjuvant management of osteoarthritis by alkalinisation of the diet
(AOSIS Publishing, 2015)Background: Osteoarthritis (OA) is a chronic condition. Nonsteroidal anti-inflammatory drugs recommended for treatment have serious adverse effects. A compelling body of anecdotal evidence alerted the authors to the ...
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The role of MKP-1 in the anti-proliferative effects of glucocorticoids in primary rat pre-osteoblasts
(Public Library of Science, 2015)Glucocorticoid (GC)-induced osteoporosis has been attributed to a GC-induced suppression of pre-osteoblast proliferation. Our previous work identified a critical role for mitogen-activated protein kinase (MAPK) phosphatase-1 ...
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Investigation and management of primary immunodeficiency in South African children
(Health and Medical Publishing Group, 2014)ENGLISH ABSTRACT: The primary immunodeficiency diseases (PIDs) are inherited, non-communicable diseases that cause immunological dysfunction. PIDs are seldom reported in South Africa (SA). Based on a mid-2013 population ...
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Development and application of a pathology supported pharmacogenetic test for improved clinical management of South African patients with breast cancer and associated co-morbidities
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH ABSTRACT: Three major challenges in the field of breast cancer have been identified as research priorities for this study. The first is the need to combine genetic testing of high-risk patients with familial breast ...
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Development of a novel pre-screen algorithm for cardio-metabolic risk management using a genomics database resource
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH ABSTRACT: The timely assessment and treatment of dyslipidaemia is an important component of cardiovascular risk screening and intervention. The apolipoprotein E (APOE) ε-2/ε-3/ε-4 polymorphism associated with ...
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Secondary chondrosarcoma : malignant transformation of pre-existing hereditary and non-hereditary cartilaginous lesions
(AOSIS Publishing, 2014-12-14)Secondary chondrosarcoma is a malignant hyaline cartilage tumour originating from a cartilaginous precursor, either osteochondroma or enchondroma. We contrast two different cases of biopsy-proven secondary chondrosarcomas ...
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Synovial sarcoma
(AOSIS Publishing, 2014-12-12)Synovial sarcoma is a malignant, predominantly juxta-articular, soft-tissue tumour representing approximately 10% of all soft-tissue sarcomas. Frequently initially incorrectly diagnosed as a benign lesion, it should be ...
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Diagnostic yield of fine needle aspiration biopsy in HIV-infected adults with suspected mycobacterial lymphadenitis
(Health & Medical Publishing Group, 2014-01)Background: Fine needle aspiration biopsy (FNAB) has been shown to be the diagnostic procedure of choice for superficial lymphadenitis in tuberculosis endemic regions. Methods: We conducted a retrospective laboratory-based ...
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Analysis of the clinical utility of gene expression profiling in relation to conventional prognostic markers in South African patients with breast carcinoma
(Stellenbosch : Stellenbosch University, 2014-12)ENGLISH ABSTRACT: Breast cancer is a heterogeneous disease characterised by marked inter-individual variability in presentation, prognosis and clinical outcome. The recognition that morphological assessment has limited ...
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MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer
(Health & Medical Publishing Group, 2013-07-03)Background. Clinical and pathological parameters may overestimate the need for chemotherapy in patients with early-stage breast cancer. More accurate determination of the risk of distant recurrence is now possible with use ...
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An evaluation of the diagnostic adequacy and immunocytochemistry of manual liquid-based smears in breast aspirates
(Medpharm Publications, 2013)The aim of this study was to determine if the Syner-Med®/Cell-Solutions® liquid-based cytology (LBC) technique would provide adequate diagnostic material when applied to breast fine-needle aspiration biopsy (FNAB) specimens ...
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Automated sputum screening using the BD FocalPointTM Slide Profiler : correlation with transbronchial and transthoracic needle aspirates in a high risk population
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Background: Sputum is a non-invasive, economic investigation whereby bronchogenic carcinoma can be identified. Manual cytological screening is labour intensive, time-consuming and requires a continuous ...
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The contribution of the placenta to the diagnosis of congenital tuberculosis
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: The aim of this pilot project was to determine whether mothers with laboratory confirmed or clinically suspected tuberculosis (TB) had evidence of TB in the placenta. A secondary objective was to ...
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The quality of specimens obtained by fine-needle aspiration biopsy : does training make a difference?
(Medpharm Publications, 2012)Background: The aim of this study was to determine the outcome of a one-hour training session on the correct technique of fine-needle aspiration biopsy (FNAB) by assessing adequacy of FNAB specimens received from clinicians ...
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Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis
(BioMed Central, 2012-10)As known disease-associated variants identified through large cohort-based studies often explain only a small percentage of genetic risk in multifactorial disorders such as multiple sclerosis (MS), alternative methods ...
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Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer’s disease
(SpringerLink, 2012-04)Chronic, multi-factorial conditions caused by a complex interaction between genetic and environmental risk factors frequently share common disease mechanisms, as evidenced by an overlap between genetic risk factors ...
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Complex patterns of genomic admixture within Southern Africa
(PLOS, 2013-03)Within-population genetic diversity is greatest within Africa, while between-population genetic diversity is directly proportional to geographic distance. The most divergent contemporary human populations include the ...
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Ontogeny of the innate immune response in healthy South African infants
(Stellenbosch : Stellenbosch University, 2012-12)ENGLISH ABSTRACT: Infection is a major cause of morbidity and mortality in infants within the first few months of life. Susceptibility to infectious disease in this vulnerable population is more prevalent in resource-limited ...
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The development of malignancies in renal allograft recipients with special emphasis on Kaposi's sarcoma
(Stellenbosch : Stellenbosch University, 2002-03)ENGLISH ABSTRACT: Renal transplantation is undoubtedly the best treatment for patients with irreversible renal failure. As a prelude to establishing the nature of malignancies in renal transplant patients we sought to ...
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Genetic aspects of pre-eclampsia : mutation screening of the low-density lipoprotein receptor, methylenetetrahydrofolate reductase, prothrombin and factor V candidate genes
(Stellenbosch : Stellenbosch University, 2001-03)ENGLISH ABSTRACT: Pre-eclampsia is a condition unique to pregnancy and primarily affects the maternal and placental vascular endothelium. It has significant morbidity and mortality consequences for both mother and infant. ...
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The MED-PED project : presymptomatic diagnosis in families with disease- related LDL receptor gene mutations
(Stellenbosch : Stellenbosch University, 2000-03)ENGLISH ABSTRACT: Familial hypercholesterolaemia (FH) contributes significantly to the high death rate from cardiovascular disease worldwide. FH is a common autosomal co-dominant disease characterised by raised cholesterol ...
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Molecular-genetic analysis of Hirschsprung's disease in South Africa
(Stellenbosch : Stellenbosch University, 2000-03)ENGLISH ABSTRACT: Hirschsprung's disease, or aganglionic megacolon, is a common cause of intestinal obstruction in neonates and is associated with the congenital absence of intrinsic ganglion cells in the myenteric and ...
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Analysis of hereditary haemochromatosis and clinical correlations in the elderly
(Stellenbosch : Stellenbosch University, 2000-12)ENGLISH ABSTRACT: Hereditary haemochromatosis (HH) is an autosomal recessive iron storage disease where the accumulation of iron in parenchymal organs may lead to diabetes, heart failure, liver cirrhosis, arthropathy, ...
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CYP2D6 genotyping and use of antidepressants in breast cancer patients : test development for clinical application
(Springer Verlag, 2012-05)Approximately 25 % of clinically important drugs and numerous environmental carcinogens are metabolised by CYP2D6. Variation in the CYP2D6 gene and concomitant use of tamoxifen (TAM) with certain antidepressants may increase ...
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Hepatitis-B-associated glomerular disease : a clinicopathological study of Hepatitis B virus associated Membranous Glomerulonephritis in Namibian and South African children 1974 – 2005 and a comparison with hepatitis B associated Membranous Glomerulonephritis as well as Idiopathic Membranous Glomerulonephritis in adults
(Stellenbosch : Stellenbosch University, 2011-12)ENGLISH ABSTRACT: Background and Objective: The most common cause of severe proteinuria/nephrotic syndrome (NS) in children worldwide is minimal change disease (MCD). This is also the pattern observed in white and Indian ...
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Evaluation of high-throughput methodology for multi-gene screening in patients with Non-Alcoholic Fatty Liver Disease (NAFLD)
(Stellenbosch : Stellenbosch University, 2011-12)ENGLISH ABSTRACT: Non-Alcoholic Fatty Liver Disease (NAFLD) is the most prevalent chronic liver disease in Western countries and is considered the hepatic manifestation of the Metabolic Syndrome (MetS). Its heterogeneous ...
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