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Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.
Taiwan J Ophthalmol
December 2024
Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled.
View Article and Find Full Text PDFCould Residents Adequately Assess the Severity of Skin Lesions in Mycosis Fungoides/Sézary Syndrome? Evaluation of Interrater Agreement and Interrater Reliability of mSWAT.
J Clin Med
December 2024
Faculty of Medicine, Wroclaw University of Science and Technology, 50-370 Wroclaw, Poland.
Article Synopsis
- Cutaneous T-cell lymphoma (CTCL) is a complex skin cancer that includes Mycosis fungoides and Sézary syndrome, making accurate diagnosis and severity assessment essential for effective treatment.
- A study involving 16 dermatology residents showed significant variability in their evaluation of lesions using the mSWAT scoring system, particularly with tumors and lesions in erythrodermic patients, which were often misclassified.
- The findings reveal the need for better training and standardized protocols in scoring to enhance reliability in assessing CTCL severity, similar to other assessment tools in dermatology.
Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.
Diagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFEstimating Visual Acuity With Spectacle Correction From Fundus Photos Using Artificial Intelligence.
JAMA Netw Open
January 2025
Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Importance: Determining spectacle-corrected visual acuity (VA) is essential when managing many ophthalmic diseases. If artificial intelligence (AI) evaluations of macular images estimated this VA from a fundus image, AI might provide spectacle-corrected VA without technician costs, reduce visit time, or facilitate home monitoring of VA from fundus images obtained outside of the clinic.
Objective: To estimate spectacle-corrected VA measured on a standard eye chart among patients with diabetic macular edema (DME) in clinical practice settings using previously validated AI algorithms evaluating best-corrected VA from fundus photographs in eyes with DME.
Transforming Non-Digital, Clinical Workflows to Detect and Track Vision-Threatening Diabetic Retinopathy via a Digital Platform Integrating Artificial Intelligence: Implementation Research.
Ophthalmol Ther
January 2025
International Health Policy Program (IHPP), Ministry of Public Health, Nonthaburi, Thailand.
Introduction: Screening diabetic retinopathy (DR) for timely management can reduce global blindness. Many existing DR screening programs worldwide are non-digital, standalone, and deployed with grading retinal photographs by trained personnel. To integrate the screening programs, with or without artificial intelligence (AI), into hospital information systems to improve their effectiveness, the non-digital workflow must be transformed into digital.
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