Exome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis.

Anterior segment dysgenesis (ASD) defines a collection of congenital eye disorders that affect structures within the anterior segment of the eye. Mutations in genes that initiate and regulate the complex pathways involved in eye development can cause a spectrum of disorders such as ASD, congenital cataracts and corneal opacity. In South Africa, causes of ASD are poorly understood with few studies looking at the possible genetic basis for these disorders.

Brucellosis in pregnancy: a case report.

Background: spp., a gram-negative bacterium, is one of the most prevalent zoonotic illnesses worldwide and is more commonly seen in animals; however, the disease may be present in humans. Clinical manifestations of brucellosis are variable and can range from asymptomatic to severe disease.

MRI-based modelling of left atrial flow and coagulation to predict risk of thrombogenesis in atrial fibrillation.

Atrial fibrillation (AF), impacting nearly 50 million individuals globally, is a major contributor to ischaemic strokes, predominantly originating from the left atrial appendage (LAA). Current clinical scores like CHA₂DS₂-VASc, while useful, provide limited insight into the pro-thrombotic mechanisms of Virchow's triad-blood stasis, endothelial damage, and hypercoagulability. This study leverages biophysical computational modelling to deepen our understanding of thrombogenesis in AF patients.

Validation of the Sino-Nasal Outcome Test-25 (SNOT-25) measure for patients with nasal septal perforation.

Nasal septal perforations (NSPs) are a common referral to specialist rhinology practice. A wide range of management options have been described but to be able to offer the most effective treatment modalities to our patients we must be able to capture quantitative data on patient symptom burden accurately and robustly.

Characterising Carbon Monoxide Household Exposure and Health Impacts in High- and Middle-Income Countries-A Rapid Literature Review, 2010-2024.

Carbon monoxide (CO) is a toxic gas, and faulty gas appliances or solid fuel burning with incomplete combustion are possible CO sources in households. Evaluating household CO exposure models and measurement studies is key to understanding where CO exposures may result in adverse health outcomes. This assists the assessment of the burden of disease in high- and middle-income countries and informs public health interventions in higher-risk environments.