49 results match your criteria: "Faculty of Medicine and Health Sciences Stellenbosch University[Affiliation]"

The reduced cost of next-generation sequencing (NGS) has allowed researchers to generate nuclear and mitochondrial genome data to gain deeper insights into the phylogeography, evolutionary history and biology of non-model species. While the Cape buffalo () has been well-studied across its range with traditional genetic markers over the last 25 years, researchers are building on this knowledge by generating whole genome, population-level data sets to improve understanding of the genetic composition and evolutionary history of the species. Using publicly available NGS data, we assembled 40 Cape buffalo mitochondrial genomes (mitogenomes) from four protected areas in South Africa, expanding the geographical range and almost doubling the number of mitogenomes available for this species.

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A 16-year-old male with hypermobility spectrum disorder (HSD) and Raynaud's phenomenon (RP) was referred to a clinical exercise physiologist (CEP) by their pediatric rheumatologist. The patient presented with arthralgia in the left knee and shoulder. Specifically, the left knee presented discomfort during activities of daily living (ADL), and the left shoulder had a reduced range of motion resulting from pain.

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Article Synopsis
  • This study focuses on the use of noninvasive diagnostic methods to detect esophageal varices (EVs) in patients with compensated cirrhosis, contrasting with the traditional invasive method of upper endoscopy.
  • Conducted on 50 patients at a hospital in Cape Town, the study analyzed various clinical and lab data, showing that 68% of participants had EVs, primarily caused by alcohol, hepatitis B, or autoimmune factors.
  • Key findings emphasize significant differences in factors like liver and spleen stiffness, platelet counts, and dimensions that could enhance the accuracy of noninvasive tools for identifying EVs in patients.
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Background: Postpartum haemorrhage is the leading cause of preventable maternal mortality worldwide. Early identification and prompt management of postpartum haemorrhage improve outcomes. Objective assessment of postpartum blood loss is an important step in identifying postpartum haemorrhage.

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Article Synopsis
  • The article examines the healing impact of an eclectic life skills program (ELSP) from the viewpoints of group participants, who have diverse diagnoses and recovery stages.
  • The study used purposive sampling to select six participants, gathering qualitative data through observations, semi-structured interviews, and reflective journals, analyzed inductively to identify themes.
  • Four main themes emerged from the data, illustrating how the program's structure and individual self-reflection contributed to the participants' healing and personal growth.
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Reporting completeness of nutrition and diet-related randomised controlled trials protocols.

Clin Nutr

July 2024

UK EQUATOR Centre, Centre for Statistics in Medicine, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, UK. Electronic address:

Background And Aims: There is a need to consolidate reporting guidance for nutrition randomised controlled trial (RCT) protocols. The reporting completeness in nutrition RCT protocols and study characteristics associated with adherence to SPIRIT and TIDieR reporting guidelines are unknown. We, therefore, assessed reporting completeness and its potential predictors in a random sample of published nutrition and diet-related RCT protocols.

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We report a diagnostically challenging case of a SMARCA4-deficient undifferentiated tumour to emphasize its potential to mimic other malignant tumours on histology, especially in small biopsies and where rhabdoid morphology is lacking. A 48-year-old man, who was known for chronic obstructive pulmonary disease and polysubstance use, presented with dyspnoea and an anterior mediastinal mass that had grown rapidly over a seven-month period. The rapid growth and location in the anterior mediastinum raised clinical suspicion for lymphoma or a germ cell tumour.

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Hydrogen sulphide (HS) is a toxic, colourless gas abundantly present at waste plants and sewers due to the presence of anaerobic forming organisms. Hazardous exposure via accidental, intentional or occupational contact results in endothelium disruption, cellular instability, decreased respiratory functional capacity and cardiovascular compromise with a rapidly fatal clinical course. Clinical manifestations are variable depending on the level of exposure with moderate or heavy exposure associated with rapid fatality.

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Background: Pathology-supported genetic testing (PSGT) enables transitioning of risk stratification from the study population to the individual.

Research Design And Methods: We provide an overview of the translational research performed in postmenopausal breast cancer patients at increased risk of osteoporosis due to aromatase inhibitor therapy, as the indication for referral. Both tumor histopathology and blood biochemistry levels were assessed to identify actionable disease pathways using whole exome sequencing (WES).

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Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.

Clin Case Rep

March 2023

Division of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South Africa.

Rare diseases often result in delays in diagnosis. It is important to recognize conditions that have features of both inborn errors of immunity and predispose to myeloid neoplasia. Here we report a patient with GATA2 deficiency that presented with disseminated non-tuberculous mycobacterial infection and pancytopenia secondary to myelodysplastic syndrome.

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Individual alignment techniques have been introduced to restore patients' unique anatomical variations during total knee arthroplasty. The transition from conventional mechanical alignment to individualised approaches, with the assistance of computer and/or robotic technologies, is challenging. The objective of this study was to develop a digital training platform with real patient data to educate and simulate various modern alignment philosophies.

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Purpose Of Review: Sub-Saharan Africa is a diverse context with a large burden of injury and trauma-related deaths. Relative to high-income contexts, most of the region is less mature in prehospital and facility-based trauma care, education and training, and trauma care quality assurance. The 2030 Agenda for Sustainable Development recognizes rising inequalities, both within and between countries as a deterrent to growth and development.

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Background: Coronavirus disease 2019 (COVID-19) is associated with hematological abnormalities of variable severity. The full blood count (FBC) and leukocyte differential count (DIFF) could facilitate the prediction of disease severity and outcome in COVID-19. This study aimed to assess the hematological parameters in early severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and their correlation with disease outcome.

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Obstructive fibrinous tracheal pseudomembrane (OFTP) is a rare complication usually following endotracheal intubation, occurring when a collection of inflammatory exudate coalesces at the site of damaged epithelium within the trachea and along the tracheal mucosa, creating a luminal narrowing and subsequent airway obstruction.

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Rape is associated with a high risk for posttraumatic stress disorder (PTSD). DNA methylation changes may confer risk or protection for PTSD following rape by regulating the expression of genes implicated in pathways affected by PTSD. We aimed to: (1) identify epigenome-wide differences in methylation profiles between rape-exposed women with and without PTSD at 3-months post-rape, in a demographically and ethnically similar group, drawn from a low-income setting; (2) validate and replicate the findings of the epigenome-wide analysis in selected genes (BRSK2 and ADCYAP1); and (3) investigate baseline and longitudinal changes in BRSK2 and ADCYAP1 methylation over six months in relation to change in PTSD symptom scores over 6 months, in the combined discovery/validation and replication samples (n = 96).

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Introduction: Many children living with HIV (CLWH) display impaired cognition. Although early combination antiretroviral therapy (ART) produces improved cognitive outcomes, more long-term outcome data are needed. After concluding the Children with HIV Early antiRetroviral (CHER) trial in 2011, we investigated cognitive performance, at seven and nine years of age.

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Background As screening programs in low- and middle-income countries (LMICs) often do not have the resources to screen the entire population, there is frequently a need to target such efforts to easily identifiable priority groups. This study aimed to determine (1) how hypertension prevalence in LMICs varies by age, sex, body mass index, and smoking status, and (2) the ability of different combinations of these variables to accurately predict hypertension. Methods and Results We analyzed individual-level, nationally representative data from 1 170 629 participants in 56 LMICs, of whom 220 636 (18.

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Mediastinal teratoma (MT) can be misdiagnosed for a long period and revealed by fatal pleural effusion at any age. In high burden tuberculosis settings, it is important to consider MT for extra-pulmonary tuberculosis not responding to medical treatment.

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Coronavirus disease 2019 (COVID-19) and pneumocystis pneumonia (PCP) share many overlapping features and may be clinically indistinguishable on initial presentation in people living with HIV. We present the case of co-infection with COVID-19 and PCP in a patient with progressive respiratory failure admitted to our intensive care unit where the dominant disease was uncertain. This case highlights the difficulty in differentiating between the two diseases, especially in a high HIV prevalence setting where PCP is frequently diagnosed using case definitions and clinical experience due to limited access to bronchoscopy, appropriate laboratory testing, and computed tomography scans.

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Aim: Early cancer diagnosis is necessary to improve survival rates. The aim of this study was to assess the outcome and cost of the childhood cancer training programme amongst healthcare workers.

Design: This was a prospective pre-post study design, using questionnaires for pre- and post-training testing.

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CYP19A1 rs10046 Pharmacogenetics in Postmenopausal Breast Cancer Patients Treated with Aromatase Inhibitors: One-year Follow-up.

Curr Pharm Des

April 2021

Division of Chemical Pathology, Department of Pathology Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa.

Background: Significant individual variation in bone loss associated with aromatase inhibitors (AIs) emphasizes the importance of identifying postmenopausal breast cancer patients at high risk for this adverse effect. The study explores the clinical relevance of genetic variation in the Cytochrome P450 19A1 (CYP19A1) gene in a subset of South African patients during the first year of taking AIs for estrogen receptor (ER)-positive breast cancer.

Methods: The study population consisted of ER-positive breast cancer patients on AIs, followed in real-life clinical practice.

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