OBJECTIVE: To investigate the effects of Bax inhibitor 1 (BI- 1) and optic atrophy protein 1 (OPA1) on vascular calcification (VC). METHODS: Mouse models of VC were established in ApoE-deficient (ApoE^-/-) diabetic mice by high-fat diet feeding for 12 weeks followed by intraperitoneal injections with N^ε-carboxymethyl-lysine for 16 weeks. ApoE^-/- mice (control group), ApoE^-/- diabetic mice (VC group), ApoE^-/- diabetic mice with BI-1 overexpression (VC + BI-1^TG group), and ApoE^-/- diabetic mice with BI-1 overexpression and OPA1 knockout (VC+BI-1^TG+OPA1^-/- group) were obtained for examination of the degree of aortic calcification using von Kossa staining. The changes in calcium content in the aorta were analyzed using ELISA. The expressions of Runt-related transcription factor 2 (RUNX2) and bone morphogenetic protein 2 (BMP-2) were detected using immunohistochemistry, and the expression of cleaved caspase-3 was determined using Western blotting. Cultured mouse aortic smooth muscle cells were treated with 10 mmol/L β-glycerophosphate for 14 days to induce calcification, and the changes in BI-1 and OPA1 protein expressions were examined using Western blotting and cell apoptosis was detected using TUNEL staining. RESULTS: ApoE^-/- mice with VC showed significantly decreased expressions of BI-1 and OPA1 proteins in the aorta (P=0.0044) with obviously increased calcium deposition and expressions of RUNX2, BMP-2 and cleaved caspase-3 (P= 0.0041). Overexpression of BI-1 significantly promoted OPA1 protein expression and reduced calcium deposition and expressions of RUNX2, BMP-2 and cleaved caspase-3 (P=0.0006). OPA1 knockdown significantly increased calcium deposition and expressions of RUNX2, BMP-2 and cleaved caspase-3 in the aorta (P=0.0007). CONCLUSION BI-1 inhibits VC possibly by promoting the expression of OPA1, reducing calcium deposition and inhibiting osteogenic differentiation and apoptosis of the vascular smooth muscle cells.
Animals ; Apolipoproteins E/metabolism* ; Calcium/metabolism* ; Caspase 3/metabolism* ; Cells, Cultured ; Core Binding Factor Alpha 1 Subunit/metabolism* ; Diabetes Mellitus, Experimental/pathology* ; GTP Phosphohydrolases/metabolism* ; Membrane Proteins/metabolism* ; Mice ; Mice, Knockout ; Muscle, Smooth, Vascular/pathology* ; Myocytes, Smooth Muscle/pathology* ; Optic Atrophy, Autosomal Dominant/pathology* ; Osteogenesis ; Vascular Calcification/pathology* ; bcl-2-Associated X Protein/metabolism*

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (BCR-ABL1, PML-RARA, AML1-ETO, and TEL-AML1), genetic tests for Janus kinase 2, FMS-like tyrosine kinase 3-internal tandem duplication, FMS-like tyrosine kinase 3-tyrosine kinase domain, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-raderd Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. Molecular genetic surveys revealed excellent results for most participants. The external quality assessment program for genetic analysis in 2017 proved useful for continuous education and the evaluation of quality improvement.
Achondroplasia ; Acidosis, Lactic ; Angelman Syndrome ; Apolipoproteins ; Brain Diseases ; Breast ; Deafness ; Education ; Epilepsies, Myoclonic ; Fragile X Syndrome ; Gene Rearrangement ; Hearing Loss ; Hepatolenticular Degeneration ; Huntington Disease ; Janus Kinase 2 ; Korea* ; Laboratory Proficiency Testing ; Leukemia ; Li-Fraumeni Syndrome ; Methylenetetrahydrofolate Reductase (NADPH2) ; Molecular Biology ; Multiple Endocrine Neoplasia ; Muscular Atrophy, Spinal ; Muscular Disorders, Atrophic ; Muscular Dystrophy, Duchenne ; Optic Atrophy, Hereditary, Leber ; Ovarian Neoplasms ; Pathology, Molecular* ; Phosphotransferases ; Quality Control ; Quality Improvement ; Spinocerebellar Ataxias ; Vascular Endothelial Growth Factor Receptor-1

Choroid plexus papillomas (CPPs) are relatively rare neuroectodermal tumors that develop from choroid plexus epithelial cells and are usually restricted to the ventricles. Extraventricular CPPs are very unusual and can be difficult to diagnose and treat. A 50-year-old male patient was admitted to our clinic complaining of headache and visual deterioration. Neurological examination found no abnormalities except decreased light perception and secondary optic atrophy in the left eye. Endocrine testing revealed normal levels of hormones produced by the pituitary and target glands. Magnetic resonance imaging of the brain revealed a huge regular-shaped lesion in the sellar-suprasellar region occupying the sella turcica and extending into the suprasellar cistern and planum sphenoidale. The lesion was completely excised by microsurgery via an ordinary left-sided pterional approach. Histopathology identified the lesion as a choroid plexus papilloma. Following the case report, literature on the origin, differential diagnosis, and treatment of this rare tumor is reviewed.
Brain ; Choroid Plexus* ; Choroid* ; Diagnosis, Differential ; Epithelial Cells ; Headache ; Humans ; Magnetic Resonance Imaging ; Male ; Microsurgery ; Middle Aged ; Neuroectodermal Tumors ; Neurologic Examination ; Optic Atrophy ; Papilloma, Choroid Plexus* ; Pathology ; Sella Turcica ; Temazepam

PURPOSE: To evaluate optic disc pallor using ImageJ in traumatic optic neuropathy (TON). METHODS: This study examined unilateral TON patients. The optic disc was divided into 4 quadrants (temporal, superior, nasal, and inferior), consistent with the quadrants on optical coherence tomography (OCT) retinal nerve fiber layer (RNFL) thickness maps. Optic disc photography was performed and disc pallor was quantified using gray scale photographic images imported into ImageJ software. The correlation between optic disc pallor and RNFL thickness was examined in each quadrant. RESULTS: A total of 35 patients (31 male, 4 female) were enrolled in the study. The mean participant age was 34.8 +/- 15.0 years (range, 5 to 63 years). Overall RNFL thickness decreased in 6 patients, with thinning most often occurring in the inferior quadrant (28 of 35 eyes). There was a significant correlation between optic disc pallor and RNFL thickness (superior, rho = -0.358, p = 0.04; inferior, rho = -0.345, p = 0.04; nasal, rho = -0.417, p = 0.01; temporal, rho = -0.390, p = 0.02). The highest level of correspondence between disc pallor and RNFL thickness values outside of the normative 95th percentiles was 39.3% and occurred in the inferior quadrant. CONCLUSIONS: Optic disc pallor in TON was quantified with ImageJ and was significantly correlated with RNFL thickness abnormalities. Thus, ImageJ evaluations of disc pallor may be useful for evaluating RNFL thinning, as verified by OCT RNFL analyses.
Adolescent ; Adult ; Child ; Child, Preschool ; Colorimetry/methods/standards ; Diagnosis, Computer-Assisted/*methods/standards ; Female ; Humans ; Male ; Middle Aged ; Optic Atrophy/etiology/*pathology ; Optic Nerve Diseases/etiology/*pathology ; Optic Nerve Injuries/*pathology ; Photography/*methods/standards ; Reproducibility of Results ; Software ; Tomography, Optical Coherence/*methods/standards ; Trauma Severity Indices ; Young Adult

INTRODUCTIONThis study describes the pathologic changes in the retina of a group of young Asian subjects with myopia worse than -10 diopters spherical equivalent (SE) refraction.

MATERIALS AND METHODSThe study population consists of 20 male subjects undergoing preemployment screening for public service for a 1-year period from 2009 to 2010. A detailed series of visual tests of function, fundus examination and grading, ocular biometry and posterior segment optical coherence tomography were performed for all eyes.

RESULTSA total of 21 eyes with mean SE of -10.88 diopters, [standard deviation (SD) , 1.28 diopters], and mean age of 21.8 years (SD, 1.3 years) were included. Out of 21 eyes, 17 (81.0%) had beta peripapillary atrophy, 10 (47.6%) had clinically detectable optic disc tilt, 1 (4.8%) had positive T-sign and 18 (85.7%) had retinal tessellation, 4 (19.0%) had posterior vitreous detachment and 14 (66.7%) had peripheral retina degeneration. The mean retinal nerve fibre layer (RNFL) thickness was 92.48 mm (SD, 9.99 mm).

CONCLUSIONNone of the 21 highly myopic eyes had features of myopic retinopathy but most of these young males had clinically visible myopia-associated abnormalities of the optic disc, vitreous and peripheral retina. Generally, these eyes had thinner RNFL. Further longitudinal studies are required to investigate if these eyes will eventually develop complications of pathological myopia.

Adolescent ; Adult ; Age of Onset ; Choroid Diseases ; diagnosis ; Fluorescein Angiography ; Humans ; Male ; Myopia ; classification ; pathology ; Nerve Fibers ; pathology ; Ophthalmoscopy ; Optic Atrophy ; diagnosis ; Optic Disk ; pathology ; Optic Nerve Diseases ; diagnosis ; Posterior Eye Segment ; pathology ; Retina ; pathology ; Retinal Degeneration ; diagnosis ; Retinal Diseases ; diagnosis ; Retinal Vessels ; pathology ; Singapore ; Tomography, Optical Coherence ; methods ; Vision Tests ; Visual Acuity ; Vitreous Detachment ; diagnosis ; Young Adult

A 32-year-old man with blurred vision in the right eye and headache presented with anterior uveitis, an intraocular pressure (IOP) of 60 mmHg, an open angle, no visual field defects, and normal optic nerve. He had a history of five previous similar attacks. In each of the previous instances, his anterior uveitis and high IOP were controlled with antiglaucoma medications and topical steroids. However, at the fifth attack, his optic disc was pale and a superior paracentral visual field defect was shown. Brain magnetic resonance image studies were normal. This case represents that a recurrent Posner-Schlossman syndrome (PSS)-induced optic disc atrophy likely due to ocular ischemia caused by a recurrent, high IOP. Although PSS is a self-limiting syndrome, we should manage high IOP and prevent ischemia of the optic nerve head by treating with ocular antihypertensive medications.
Atrophy/diagnosis/etiology ; Diagnosis, Differential ; Glaucoma, Open-Angle/*complications/diagnosis/physiopathology ; Humans ; *Intraocular Pressure ; Male ; Optic Disk/*pathology ; Optic Nerve Diseases/diagnosis/*etiology/physiopathology ; Syndrome ; Young Adult

We report a rare case of optic nerve atrophy with severe disc cupping resulting from methanol poisoning. A 30-year-old man presented to the hospital complaining of decreased visual acuity in both eyes a day after drinking alcohol containing methanol. His initial visual acuity allowed for only visualizing hand motion and not corrected in either eye. Initial intraocular pressure was within normal limits in both eyes. Initial fundus examination showed optic disc swelling in both eyes. Four years later, he visited our hospital for an eye evaluation. Visual acuity in both eyes still only allowed for visualizing hand motion. No nystagmus was observed in either eye during the optokinetic nystagmus test, and no waves were found in a visual evoked potential test. No specific change was noted on brain magnetic resonance imaging. On fundus examination, there was disc pallor in both eyes and disc cupping with a high cup/disc (C/D) ratio above 0.9 in the left eye. C/D ratio of the right eye was 0.5. Methanol poisoning may induce glaucomatous disc cupping in the late stage as well as optic atrophy. One possible mechanism of disc cupping is ganglion cell loss due to acute demyelination of the retrobulbar optic nerve. This report is the first photographic evidence of methanol induced optic disc cupping in Korea.
Adult ; Diagnosis, Differential ; Evoked Potentials, Visual ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Magnetic Resonance Imaging ; Male ; Methanol/*poisoning ; Optic Atrophy/*chemically induced/pathology/physiopathology ; Optic Disk/drug effects/*pathology ; Papilledema/*chemically induced/pathology/physiopathology ; Severity of Illness Index ; Solvents/poisoning ; Tomography, Optical Coherence ; Visual Acuity

No abstract available.
Humans ; Male ; Methanol/*poisoning ; Optic Atrophy/*chemically induced ; Optic Disk/*pathology ; Papilledema/*chemically induced

We report here the records of 10 consecutive Korean patients (10 eyes) with ocular toxoplasmosis which showed the typical clinical manifestations with seropositivity for Toxoplasma gondii specific IgG antibodies by micro-ELISA between 2006 and 2010. Nine patients were males and 1 was female; their age was 50.5+/-13.8 years. The most common accompanying signs were vitritis (100%), anterior uveitis (70%), and scattered white deposit (80%). Pre-existing retinochoroidal scar was found in 1 (10%) patient. All patients received antiparasitic chemotherapy and systemic corticosteroid treatment, which resolved the presenting attack and recovered the visual acuity better than initial one in 9 patients and worse in 1. Optic atrophy, cataract, and retinal neovascularization were observed during the follow-up period and recurrence was detected in 3 eyes (30%) 6 to 20 months after the initial attack. In Korea, although rarely detected and reported, ocular toxoplasmosis needs more attention in clinical field of retinal diseases.
Adrenal Cortex Hormones/administration & dosage ; Adult ; Age Distribution ; Aged ; Anti-Inflammatory Agents/administration & dosage ; Antibodies, Protozoan/*blood ; Antiprotozoal Agents/administration & dosage ; Cataract/pathology ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Immunoglobulin G/blood ; Korea ; Male ; Middle Aged ; Optic Atrophy/pathology ; Retinal Neovascularization/pathology ; Sex Distribution ; Toxoplasma/immunology/*isolation & purification ; Toxoplasmosis, Ocular/complications/*diagnosis/drug therapy/*pathology ; Uveitis, Anterior/complications/drug therapy/parasitology/pathology

PURPOSE: To characterize the features of peripapillary atrophy (PPA), as imaged by spectral-domain optical coherence tomography (SD-OCT). METHODS: SD-OCT imaging of the optic disc was performed on healthy eyes, eyes suspected of having glaucoma, and eyes diagnosed with glaucoma. From the peripheral beta-zone, the retinal nerve fiber layer (RNFL), the junction of the inner and outer segments (IS/OS) of the photoreceptor layer, and the Bruch's membrane/retinal pigment epithelium complex layer (BRL) were visualized. RESULTS: Nineteen consecutive eyes of 10 subjects were imaged. The RNFL was observed in the PPA beta-zone of all eyes, and no eye showed an IS/OS complex in the beta-zone. The BRL was absent in the beta-zone of two eyes. The BRL was incomplete or showed posterior bowing in the beta-zone of five eyes. CONCLUSIONS: The common findings in the PPA beta-zone were that the RNFL was present, but the photoreceptor layer was absent. Presence of the BRL was variable in the beta-zone areas.
Adult ; Aged ; Bruch Membrane/pathology ; Female ; Glaucoma/*complications ; Humans ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Atrophy/*diagnosis/*etiology ; Optic Disk/*pathology ; Photoreceptor Cells, Vertebrate/pathology ; Retina/pathology ; Retinal Pigment Epithelium/pathology ; Tomography, Optical Coherence/*methods