Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Isochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas.
Cureus
August 2024
Department of Internal Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, SRM Institute of Science and Technology, Kattankulathur, IND.
Isochromosome mosaic Turner syndrome (IMTS) is a rare genetic variant of Turner syndrome (TS). The diagnosis of TS can be missed until adolescence or early adulthood in females with minimal symptoms. The clinical features of mosaic TS can be atypical and should be evaluated thoroughly to detect potential complications.
View Article and Find Full Text PDFOptimizing the methodology for the assessment of bulbar conjunctival lissamine green staining.
Optom Vis Sci
September 2024
School of Optometry, Aston University, Birmingham, United Kingdom.
Significance: When using lissamine green for bulbar conjunctival evaluation, the most staining was observed with two applications of the same strip in the same eye, wetted with a drop of saline. The first application was 5 seconds after wetting the strip, and the second was 1 minute later, followed by immediate viewing. This suggests that bulbar staining should be viewed before the lid wiper region.
View Article and Find Full Text PDFA large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
BMC Ophthalmol
July 2024
Institute of Genetic and Biomedical Research, National Research Council (CNR), Cittadella Universitaria Di Cagliari, C/O S.S 554 Bivio Per Sestu Km 4, 500, 09042, Monserrato, CA, Italy.
Article Synopsis
- Usher syndrome (USH) is a genetic condition characterized by hearing loss and vision problems due to retinitis pigmentosa, with a study focusing on 3 families out of 6,148 participants in the SardiNIA project highlighting its clinical and genetic aspects.
- The research involved comprehensive medical evaluations, including visual and auditory tests, and genetic testing to identify causal mutations in several candidate genes linked to USH.
- A significant finding was a single variant in the USH2A gene found in all affected patients, indicating a potential common ancestry or "founder effect" in the Sardinian population, which has implications for understanding the genetic basis of USH.
Background And Aim: Refractive errors, amblyopia, strabismus, and low vision are more common among children with hearing impairments in comparison with their hearing peers. Neglecting visual disorders can pose educational and social problems for these children. The present study aimed to assess the prevalence of refractive errors, amblyopia, strabismus, and low vision among hearing-impaired and deaf students in Kermanshah.
View Article and Find Full Text PDFThe Australian Eye and Ear Health Survey (AEEHS): Study protocol for a population-based cross-sectional study.
PLoS One
May 2024
School of Optometry and Vision Science, Faculty of Science, UNSW Sydney, Sydney, NSW, Australia.
Introduction: Vision and hearing impairments are highly prevalent and have a significant impact on physical, psychological and social wellbeing. There is a need for accurate, contemporary national data on the prevalence, risk factors and impacts of vision and hearing loss in Australian adults.
Objectives: The Australian Eye and Ear Health Survey (AEEHS) aims to determine the prevalence, risk factors and impacts of vision and hearing loss in both Aboriginal and Torres Strait Islander and non-Indigenous older adults.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!