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Utility of Fluorescein Angiography for Early Detection of Familial Exudative Vitreoretinopathy in Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects due to Variants.
J Pediatr Ophthalmol Strabismus
December 2024
Purpose: To investigate whether wide-angle fluorescein angiography (FA) was useful for detecting familial exudative retinopathy (FEVR) in patients with neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV).
Methods: This was a retrospective chart review from 2013 to 2023 of all consecutive patients with NEDSDV and pathogenic or likely pathogenic variants.
Results: Seven patients (four females, three males) were seen in the ophthalmology clinic (median age: 14 months).
Purpose: To explore how serum diabetes autoantibodies are related to the development of early diabetic retinopathy in children with type 1 diabetes mellitus.
Methods: In this prospective and observational study, 62 patients with type 1 diabetes mellitus who had not yet developed clinical diabetic retinopathy were followed up for at least 5 years. Healthy volunteers aged 10 to 20 years were also included.
Efficient strabismus diagnosis from small samples: Harnessing spatial features for improved accuracy.
J Biomed Inform
December 2024
Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China.
Strabismus is a common ophthalmological condition, and early diagnosis is crucial to preventing visual impairment and loss of stereopsis. However, traditional methods for diagnosing strabismus often rely on specialized ophthalmic equipment and trained personnel, limiting the widespread accessibility of strabismus diagnosis. Computer-aided strabismus diagnosis is an effective and widely used technology that assists clinicians in making clinical diagnoses and improving efficiency.
View Article and Find Full Text PDFA natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Orphanet J Rare Dis
December 2024
Division of Metabolism and Children's Research Center, Reference Center for Inborn Errors of Metabolism, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland.
Article Synopsis
- RETRIEVE is a natural history study focused on the survival and disease progression of early-onset GM1, GM2, and type 2 Gaucher disease (GD2).
- The study gathered data from 185 patients retrospectively and 40 patients prospectively, revealing varying median survival rates: GM1 (19 months), GM2 (44 months), and GD2 (14 months).
- The findings noted that hypotonia was widespread among GM1 patients (94.4%), with additional symptoms like strabismus and splenomegaly specifically observed in GD2 patients, confirming known patterns of these rare lysosomal storage disorders.
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