Publications by authors named "T L Hardy"
TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age 35-55, leading to premature death in 100% of patients expressing an autosomal dominant C-terminally truncated form of TREX1. We previously demonstrated that RVCL is characterized by high levels of DNA damage, premature cellular senescence, and risk of early-onset breast cancer before age 45.
View Article and Find Full Text PDFOrbital Cellulitis Secondary to Dacryocystitis: A Case Series and Literature Review.
Ophthalmic Plast Reconstr Surg
December 2024
Article Synopsis
- This study focused on identifying risk factors and management outcomes for patients with orbital cellulitis stemming from dacryocystitis, analyzing a group of 18 patients.
- The majority of patients (56% female, mean age 62) experienced reduced visual acuity, but most showed improvement after treatment, with acute intervention helping in resolving acute cellulitis.
- Key findings suggested that recurrent dacryocystitis and the presence of dacryoliths are significant risk factors, while immunosuppression worsens prognosis; successful long-term resolution typically requires dacryocystorhinostomy.
Patterns of recurrence in idiopathic orbital myositis.
Graefes Arch Clin Exp Ophthalmol
November 2024
Purpose: To characterise patterns of disease recurrence in idiopathic orbital myositis (IOM).
Methods: Multi-centre retrospective longitudinal study of IOM patients. Serial imaging was also analysed.
The gut microbiota-brain axis has been associated with the pathogenesis of numerous disorders, but the mechanism(s) underlying these links are generally poorly understood. Accumulating evidence indicates the involvement of gut microbe-derived metabolites. Circulating levels of the gut microbe/host co-metabolite -cresol sulfate (pCS) correlate with cerebrovascular event risk in individuals with chronic kidney disease (CKD), but whether this relationship is mechanistic is unclear.
View Article and Find Full Text PDFBackground: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.
Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.