Results 61 to 70 of about 57,799 (256)
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Developmental Dynamics, EarlyView.Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
Optical coherence tomography angiography features of retinitis post-rickettsial fever
Indian Journal of Ophthalmology, 2019 The intraocular manifestations of rickettisial retinitis include retinal vasculitis, maculopathy, optic neuritis, and neurosensory detachment. Extensive leakage of dye on the fundus fluorescein angiography may obscure visualization in eyes with retinitis.
Mahesh Shanmugam +5 more
doaj +1 more source
Unusual Association of Inverse Retinitis Pigmentosa, Scleromalacia, and Neovascular Glaucoma
, 2020 A 31-year-old woman with inverse retinitis pigmentosa presented with severe ocular pain and ingrained visual loss. Biomicroscopy revealed a large scleromalacia area above the superior limbus, minimal Descemet’s membrane folds, aqueous flare, rubeosis ...
Mehmet Çıtırık +2 more
core +1 more source
Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa. [PDF]
, 2018 Purpose We investigated whether fundus autofluorescence (FAF) lifetimes in patients with retinitis pigmentosa display a disease-specific lifetime pattern.
Martin S. Zinkernagel +9 more
core +1 more source
Foundation Models in Diagnosis of Ophthalmic Diseases: Construction and Application
Eye &ENT Research, EarlyView.ABSTRACT Artificial intelligence holds promise for addressing the uneven distribution of medical resources across different regions. Compared with convolutional neural network models, foundation models offer significant advantages: on one hand, their pre‐training does not rely on massive labeled data; on the other hand, they possess the capability to ...
Xiaolu Huang +7 more
wiley +1 more source
European Journal of Case Reports in Internal MedicineIntroduction: A case of ocular bartonellosis under anti-tumour necrosis factor treatment is described. Case description: A 29-year-old woman with psoriasis who had been on certolizumab treatment was examined with a left visual deterioration following a ...
Mustafa Kayabaşı +3 more
doaj +1 more source
Macromolecular Rapid Communications, EarlyView.Nile Red‐loaded poly(solketal acrylate) nanoparticles enable fluorescence tracking and exhibit nontoxic profiles in retinal cells. Enhanced cellular uptake and deep retinal penetration after intravitreal injection highlight their excellent potential for targeted ocular drug delivery to the posterior segment of the eye.
Yasaman Pourdakheli Hamedani +6 more
wiley +1 more source
, 2002 We performed a prospective study of discontinuation of secondary prophylaxis against cytomegalovirus (CMV) in 36 patients with acquired immunodeficiency syndrome and quiescent CMV retinitis after successful treatment with highly active antiretroviral ...
Casado, José Luis +6 more
core +1 more source
Current Opinion in Rheumatology, 2016 Ophthalmologists and rheumatologists frequently have a miscommunication among themselves, and as a result differ in their opinion for patients consulting them with retinal vasculitis. This report seeks to establish a common understanding of the term, retinal vasculitis, and to review recent studies on this diagnosis.The genetic basis of some rare forms
James T, Rosenbaum +2 more
openaire +2 more sources