Vitreal Concentrations of Vascular Endothelial Growth Factor in Patients with Rhegmatogenous Retinal Detachment
J Clin Med. 2023 Feb 5;12(4):1259. doi: 10.3390/jcm12041259. ABSTRACT The purpose of this study is to evaluate the concentration of vascular endothelial growth factor (VEGF) in the vitreous humor of patients with primary rhegmatogenous retinal detachment (RRD). This is a prospective case control study. Eighteen patients with primary RRD without proliferative vitreoretinopathy C (PVR C) […]
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
Ophthalmic Genet. 2023 Mar 1:1-8. doi: 10.1080/13816810.2023.2183223. Online ahead of print. ABSTRACT BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial […]
Rescuing cellular function in Fuchs endothelial corneal dystrophy by healthy exogenous mitochondrial internalization
Sci Rep. 2023 Feb 28;13(1):3380. doi: 10.1038/s41598-023-30383-8. ABSTRACT Fuchs endothelial corneal dystrophy (FECD) is characterized by an accelerated loss of corneal endothelial cells. Since the function of these cells is to maintain the cornea in a state of deturgescence necessary for its transparency, the depletion of corneal endothelial cells ultimately causes corneal edema and irreversible […]
FDX1-dependent and independent mechanisms of elesclomol-mediated intracellular copper delivery
Proc Natl Acad Sci U S A. 2023 Mar 7;120(10):e2216722120. doi: 10.1073/pnas.2216722120. Epub 2023 Feb 27. ABSTRACT Recent studies have uncovered the therapeutic potential of elesclomol (ES), a copper-ionophore, for copper deficiency disorders. However, we currently do not understand the mechanism by which copper brought into cells as ES-Cu(II) is released and delivered to cuproenzymes […]
Insight into the mechanisms of coronaviruses evading host innate immunity
Biochim Biophys Acta Mol Basis Dis. 2023 Feb 27:166671. doi: 10.1016/j.bbadis.2023.166671. Online ahead of print. ABSTRACT The SARS-CoV-2 induced coronavirus disease (COVID-19) has recently caused a pandemic. Patients with COVID-19 presented with a wide spectrum of symptoms for the disease, from entirely asymptomatic to full-blown pneumonia and multiorgan failures. More evidence emerged, showing the production […]
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
Ophthalmic Genet. 2023 Mar 1:1-8. doi: 10.1080/13816810.2023.2183223. Online ahead of print. ABSTRACT BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial […]
Rescuing cellular function in Fuchs endothelial corneal dystrophy by healthy exogenous mitochondrial internalization
Sci Rep. 2023 Feb 28;13(1):3380. doi: 10.1038/s41598-023-30383-8. ABSTRACT Fuchs endothelial corneal dystrophy (FECD) is characterized by an accelerated loss of corneal endothelial cells. Since the function of these cells is to maintain the cornea in a state of deturgescence necessary for its transparency, the depletion of corneal endothelial cells ultimately causes corneal edema and irreversible […]
Molybdenum Cofactor Deficiency
2021 Dec 2 [updated 2023 Feb 2]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT CLINICAL CHARACTERISTICS: Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal […]
Orbicularis Oculi Muscle Immunohistochemical, Metabolic, and Morphometric Differences in Affected and Nonaffected Sides in Hemifacial Spasm vs Healthy Subjects
J Neuroophthalmol. 2022 Dec 6. doi: 10.1097/WNO.0000000000001770. Online ahead of print. ABSTRACT BACKGROUND: Subtle morphological alterations have been reported even in the nonaffected side of the orbicularis oculi muscle in patients with hemifacial spasm. However, no previous study assessed immunohistochemical, metabolic, and morphometric alterations in orbicularis oculi muscle fibers in affected and nonaffected sides in […]
Kearns-Sayre Syndrome Masquerading as Myasthenia Gravis
Retin Cases Brief Rep. 2022 Dec 22. doi: 10.1097/ICB.0000000000001397. Online ahead of print. ABSTRACT PURPOSE: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case of KSS masquerading as myasthenia gravis […]