Anatomical Pathology
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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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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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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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Mycobacterial transport medium for routine culture of fine needle aspiration biopsies
(BMJ Publishing Group, 2010-01)Fine needle aspiration biopsy (FNAB) offers a simple outpatient technique for specimen collection in child tuberculosis suspects with peripheral lymphadenopathy. To perform FNAB with mycobacterial culture on an outpatient ...
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Malacoplakia of the vagina: first case report
(HMPG, 1973-08)The first case of malacoplakia known to have affected the female genital tract is presented. This lesion involved the upper vagina and presented clinically as an infiltrating carcinoma. No evidence of malacoplakia of the ...
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Unusual presentation of choriocarcinoma. A case report
(Health and medical Publishing Group (HMPG), 1979-01)Authors report the management of a case of malignant trophoblastic disease which presented initially as a haematemesis and melaena from a gastric metastasis. The patient had had a tubal sterilization 4 years previously. ...
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Metastatic hepatocellular carcinoma of the heart. A case report
(HMPG, 1978)A metastatic tumour growing in the heart more than 2 years after total removal of the primary hepatic growth is a rare event. Jaundice as a result of bile production by the metastasis is most unusual. The primary tumour ...
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Gangrene of the penis after circumcision : a report of 3 cases
(HMPG, 1979-03)Three patients with gangrene of the penis after Xhosa ritual tribal circumcision are reported. A review of complications which may follow circumcision is given.
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Mucocutaneous lymph node syndrome (Kawasaki disease). A report of 2 cases
(HMPG, 1980-12)Two cases of Kawasaki disease, both with cardiac involvement. are reported in South African children and the diagnostic problems are discussed. In patient 1 an ECG showed the development of an .inferior myocardial infarction, ...
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Familial dilated (congestive) cardiomyopathy. Occurrence in two brothers and an overview of the literature
(Health and Medical Publishing Group (HMPG), 1984)Two young White brothers had dilated (congestive) cardiomyopathy. The elder came to autopsy after a chronic course of congestive cardiac failure; the younger underwent repeated cardiac catheterization and transvenous right ...
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Regional clinical registry data show increased incidence of cutaneous melanoma in Cape Town
(Health and Medical Publishing Group (HMPG), 2008)[No abstract available]
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Patogenese van murale trombi idiopatiese kardiomiopatie
(Health and Medical Publishing Group (HMPG), 1975)Hearts from 32 patients with idiopathic cardiomyopathy were examined postmortem. A comparative morphological study of the human hearts and of hearts from cardiomyopathic hamsters, rabbits and baboons indicates that severe ...
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The contribution of fine needle aspiration biopsy in the diagnosis of Mycobacterial Lymphadenopathy with particular reference to children
(Stellenbosch : University of Stellenbosch, 2009-12)ENGLISH ABSTRACT: Expediting a diagnosis of tuberculosis in children, particularly those who are immunocompromised due to HIV/AIDS, is essential, as they are vulnerable to develop severe forms of disease due to their ...
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