Results 41 to 50 of about 32,677 (255)
Advanced Science, EarlyView.Eligibility flow and real‐world AMD burden in the UKB retinal imaging cohort and TMUEH external‐validation cohort. Overview of the ORBIT‐AMD architecture, integrating retinal representation pretraining, bilateral eye‐graph modeling and concept bottleneck learning to support ordered risk, bilateral context, interpretable lesion concepts, longitudinal ...
Xuehao Cui +3 more
wiley +1 more source
Deconstruction of Human Age‐Related Cataract Capsules Defines Aging
Advanced Science, EarlyView.We generate a comprehensive atlas of age‐related cataracts (ARC) at a single‐cell resolution, encompassing three disease states—mild cataract group (Mild), severe cortical cataract group (Severe_C), and severe nuclear cataract group (Severe_N). We find that ARC involves seven distinct lens capsule cell types, with notable differences in cellular ...
Qiaomei Tang +9 more
wiley +1 more source
AI &Innovation, EarlyView.ABSTRACT The detection and classification of diseases have become a field of interest for artificial intelligence in recent years, where the development of methods and models that allow support for specialists in different health fields has allowed early detection of diseases and the provision of timely treatment to patients.
Rodrigo Cordero‐Martínez +2 more
wiley +1 more source
Journal of University Medical & Dental College, 2023 BACKGROUND & OBJECTIVE: Cataract is major cause of preventable blindness, worldwide. Phacoemulsification and manual small incision are most common surgical methods of cataract.
Asma Aftab +4 more
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Results of Cataract Extraction in Patients with Corneal Opacity
Oftalʹmologiâ, 2019 Purpose. To evaluate the effectiveness of cataract extraction in patients with varying degrees of corneal opacity.Patients and methods. We performed cataract extraction with implantation of the intraocular lenses of 14 eyes (9 patients) with varying ...
E. A. Ivachev +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Case Reports in Ophthalmology, 2013 Purpose: The aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia (AN)-1. Methods: In an 18-year-old female patient affected by congenital AN, bilateral coloboma of the zonula and lens ...
Sandro Sbordone +5 more
doaj +1 more source