Results 121 to 130 of about 104,577 (302)
Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants
Epileptic Disorders, EarlyView.
Melissa Odabassian, Kenneth A. Myers
wiley +1 more source
Recalcitrant Eyelid Lupus Treated With Topical Ruxolitinib
ABSTRACT Lupus of the eyelids, or lupus blepharitis, is a rare and localized form of chronic cutaneous lupus. The use of topical corticosteroids is limited in this sensitive area due to the risk of adverse events. We present a case of eyelid lupus, with histological confirmation, resistant to multiple lines of treatment, successfully treated with ...
Clémence Bertold +6 more
wiley +1 more source
The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period [PDF]
Bedford +29 more
core +2 more sources
ABSTRACT Diabetic cataracts are a leading cause of blindness, with lens epithelial cells (LECs) exhibiting mitochondrial dysfunction and autophagy inhibition under high glucose (HG) conditions. Methyltransferase‐like 14 (METTL14), an RNA methyltransferase, regulates N6‐methyladenosine (m6A) RNA modification; however, its role in modulating ...
Rui Li +4 more
wiley +1 more source
Oxidative stress plays a major role in the formation of the cataract that is the result of advancing age, diabetes or which follows vitrectomy surgery. Glutathione (GSH) is the principal antioxidant in the lens, and so supplementation with GSH would seem
Julie C. Lim +3 more
doaj +1 more source
ABSTRACT Ultraviolet B (UVB) radiation is a major risk factor for cataract development, but the molecular mechanisms underlying this process, particularly the involvement of regulated cell death pathways such as ferroptosis, remain unclear. Transcriptomic, proteomic, and metabolomic analyses were performed on lens tissues from UVB‐induced cataract rat ...
Fei Xu +4 more
wiley +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Laura J Wood,1,2,* Jasleen K Jolly,1,2,* Markus Groppe,3 Larry Benjamin,3 James F Kirwan,4 Nishal Patel,5 Mostafa A Elgohary,6 Robert E MacLaren1,2 1Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford,
Wood LJ +7 more
doaj
Movement Disorders in Developmental and Epileptic Encephalopathies
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source

