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Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Genes (Basel)
December 2024
Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73114, USA.
Article Synopsis
- Inherited retinal diseases (IRDs) lead to vision impairment and blindness, making genetic testing crucial for accurate diagnosis and understanding disease mechanisms.
- Genetic testing was conducted on 103 patients, with 70 receiving reported genetic findings, including 20 previously unreported variants.
- The results enhance clinical diagnosis, inform patient counseling for prognosis and family planning, and improve treatment options, while also broadening the known genetic mutations associated with IRDs.
Resonant Young's Slit Interferometer for Sensitive Detection of Low-Molecular-Weight Biomarkers.
Biosensors (Basel)
January 2025
School of Physics, Engineering and Technology, University of York, York YO10 5DD, UK.
The detection of low-molecular-weight biomarkers is essential for diagnosing and managing various diseases, including neurodegenerative conditions such as Alzheimer's disease. A biomarker's low molecular weight is a challenge for label-free optical modalities, as the phase change they detect is directly proportional to the mass bound on the sensor's surface. To address this challenge, we used a resonant Young's slit interferometer geometry and implemented several innovations, such as phase noise matching and optimisation of the fringe spacing, to maximise the signal-to-noise ratio.
View Article and Find Full Text PDFStudy of Imaging Biomarkers as a Prognostic Factor and Guide in the Management of Diabetic Macular Oedema.
Cureus
November 2024
Ophthalmology, Gandhi Medical College and Hamidia Hospital, Bhopal, IND.
Diabetic macular oedema (DME) is a major cause of vision impairment in individuals with diabetes mellitus, characterised by fluid accumulation in the macula due to increased vascular permeability. The growing prevalence of diabetes worldwide has led to an increasing burden of DME on healthcare systems. While current treatment options such as anti-vascular endothelial growth factor (anti-VEGF) injections, corticosteroids, and laser therapy exist, the variability in patient responses highlights the need for reliable prognostic tools.
View Article and Find Full Text PDFClinical predictors of causative radiographic findings in adults with acute onset diplopia.
Front Neurol
November 2024
Department of Ophthalmology, School of Medicine, Pusan National University, Yangsan, Republic of Korea.
Objective: This study aimed to investigate the clinical factors that predict abnormal radiographic findings in adults with acute onset binocular diplopia.
Methods: Medical records of consecutive patients aged >20 years who presented with acute binocular diplopia were retrospectively reviewed. Patients were divided into positive and negative groups according to radiographic findings.
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