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Ocular dominance

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https://www.readbyqxmd.com/read/28541267/choroidal-melanoma-sector-melanocytosis-and-retinal-pigment-epithelial-microdetachments-in-birt-hogg-dub%C3%A3-syndrome
#1
Charlotte L Marous, Molly R Marous, R Joel Welch, Jerry A Shields, Carol L Shields
PURPOSE: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant condition that can predispose patients to numerous cutaneous fibrofolliculomas and other cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal renal tumors and cancer. The genetic mutations responsible for BHDS are related to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, "flecked chorioretinopathy," and one report of choroidal melanoma...
May 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28529481/topical-ophthalmic-formulation-of-trichostatin-a-and-surr9-c84a-for-quick-recovery-post-alkali-burn-of-corneal-haze
#2
Kislay Roy, Chun Hei Antonio Cheung, Rupinder K Kanwar, Rajat Sandhir, Jagat R Kanwar
Alkali burn injury is a true ocular emergency of the conjunctiva and cornea that requires immediate precision. Lack of an immediate therapy can lead to a substantial damage in the ocular surface and anterior segment further causing visual impairment and disfigurement. We explored the regenerative capability of dominant negative survivin protein (SurR9-C84A) and histone deacetylase inhibitor trichostatin-A (TSA) in vivo, in a rat alkali burn model. A topical insult in rat eyes with NaOH led to degradation of the conjunctival and corneal epithelium...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28502323/a-case-report-on-the-exceptional-coincidence-of-two-inherited-renal-disorders-adpkd-and-alport-syndrome%C3%A2
#3
Kathrin Ebner, Nadine Reintjes, Markus Feldkötter, Friederike Körber, Mato Nagel, Jörg Dötsch, Bernd Hoppe, Lutz Thorsten Weber, Bodo B Beck, Max C Liebau
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of dialysis-requiring end-stage renal disease in adults and is characterized by the slowly progressing replacement of renal tissue by focal macrocysts. Alport syndrome (AS; hereditary nephritis) is a rare, inherited disorder of the basement membrane associated with hematuria, proteinuria, and loss of kidney function as well as sensorineural hearing loss and ocular abnormalities. Here, we report on a family in which both ADPKD and AS are present...
May 15, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28500220/environmental-enrichment-rescues-binocular-matching-of-orientation-preference-in-the-mouse-visual-cortex
#4
Jared Levine, Hui Chen, Yu Gu, Jianhua Cang
Neural circuits are shaped by experience during critical periods of development. Sensory deprivation during these periods permanently compromises an organism's ability to perceive the outside world. In the mouse visual system, normal visual experience during a critical period in early life drives the matching of individual cortical neurons' orientation preferences through the two eyes, likely a key step in the development of binocular vision. Here, in mice of both sexes, we show that the binocular matching process is completely blocked by monocular deprivation spanning the entire critical period...
May 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28495842/the-impact-of-ocular-hemodynamics-and-intracranial-pressure-on-intraocular-pressure-during-acute-gravitational-changes
#5
Emily S Nelson, Lealem Mulugeta, Andrew Feola, Julia Raykin, Jerry G Myers, Brian C Samuels, C Ross Ethier
Exposure to microgravity causes a bulk fluid shift toward the head, with concomitant changes in blood volume/pressure, intraocular pressure (IOP), and intracranial pressure (ICP). These and other factors are thought to contribute to Visual Impairment and Intracranial Pressure syndrome, a significant health concern for astronauts, characterized by degradation of visual function and ocular anatomical changes. Here we describe a lumped-parameter numerical model to simulate volume/pressure alterations in the eye during gravitational changes...
May 11, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28494813/not-only-dominant-not-only-optic-atrophy-expanding-the-clinical-spectrum-associated-with-opa1-mutations
#6
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
BACKGROUND: Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS: We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy...
May 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28494159/association-of-visual-acuity-with-ocular-dominance-in-2045-myopic-patients
#7
Dan Zhou, Ni Ni, Aiping Ni, Qinjin Chen, Dan-Ning Hu, Jibo Zhou
PURPOSE: Previous studies of the relationship between visual acuity (VA) and ocular dominance have produced conflicting results. We hypothesized that (1) the discrepancies were related mostly to sample size and interocular visual acuity difference (IOVAD); (2) in large samples of individuals with marked IOVADs, the eye with the better uncorrected distance visual acuity (UDVA) would be dominant. These hypotheses were tested in a large group of myopic patients. METHODS: This prospective study of cycloplegic refraction involved 2045 myopic refractive surgery candidates...
May 11, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28493397/a-recurrent-de-novo-mutation-in-actg1-causes-isolated-ocular-coloboma
#8
Joe Rainger, Kathleen A Williamson, Dinesh C Soares, Julia Truch, Dominic Kurian, Gabriele Gillessen-Kaesbach, Anne Seawright, James Prendergast, Mihail Halachev, Ann Wheeler, Lynn McTeir, Andrew C Gill, Veronica van Heyningen, Megan G Davey, David R FitzPatrick
Ocular coloboma (OC) is a defect in optic fissure closure and is a common cause of severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole exome sequencing was used to analyse twelve trios (child affected with OC and both unaffected parents), This identified de novo mutations in ten different genes in eight probands. Three of these genes encoded proteins associated with actin cytoskeleton dynamics: ACTG1, TWF1 and LCP1. Proband-only whole exome sequencing identified a second unrelated individual with isolated OC carrying the same ACTG1 allele, encoding p...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28481926/delineating-morbillivirus-entry-dissemination-and-airborne-transmission-by-studying-in-vivo-competition-of-multicolor-canine-distemper-viruses-in-ferrets
#9
Rory D de Vries, Martin Ludlow, Alwin de Jong, Linda J Rennick, R Joyce Verburgh, Geert van Amerongen, Debby van Riel, Peter R W A van Run, Sander Herfst, Thijs Kuiken, Ron A M Fouchier, Albert D M E Osterhaus, Rik L de Swart, W Paul Duprex
Identification of cellular receptors and characterization of viral tropism in animal models have vastly improved our understanding of morbillivirus pathogenesis. However, specific aspects of viral entry, dissemination and transmission remain difficult to recapitulate in animal models. Here, we used three virologically identical but phenotypically distinct recombinant (r) canine distemper viruses (CDV) expressing different fluorescent reporter proteins for in vivo competition and airborne transmission studies in ferrets (Mustela putorius furo)...
May 8, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28481155/a-unique-case-series-of-autosomal-recessive-bestrophinopathy-exhibiting-multigenerational-inheritance
#10
Joshua S Hardin, G Bradley Schaefer, Ahmed B Sallam, M Kathryn Williams, Sami Uwaydat
INTRODUCTION: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance. METHODS: Three generations of a Middle Eastern family (a woman, one son, and two grandchildren) were evaluated by our ocular genetics team...
May 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28468802/universal-transition-from-unstructured-to-structured-neural-maps
#11
Marvin Weigand, Fabio Sartori, Hermann Cuntz
Neurons sharing similar features are often selectively connected with a higher probability and should be located in close vicinity to save wiring. Selective connectivity has, therefore, been proposed to be the cause for spatial organization in cortical maps. Interestingly, orientation preference (OP) maps in the visual cortex are found in carnivores, ungulates, and primates but are not found in rodents, indicating fundamental differences in selective connectivity that seem unexpected for closely related species...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28467418/a-kcnc3-mutation-causes-a-neurodevelopmental-non-progressive-sca13-subtype-associated-with-dominant-negative-effects-and-aberrant-egfr-trafficking
#12
Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3...
2017: PloS One
https://www.readbyqxmd.com/read/28439979/scattering-contribution-to-the-double-pass-psf-using-monte-carlo-simulations
#13
Dimitrios Christaras, Harilaos Ginis, Alexandros Pennos, Pablo Artal
PURPOSE: Scattering in the eye occurs mainly at two sites: the eye's optical media and the deeper retinal layers. Although the two phenomena are often treated collectively, their spatial domain of contribution to the double-pass Point Spread Function (PSF) is different: the fundus effect is limited to the narrow and middle part of the PSF whereas scattering in the eye's optics extends also to wide angles. The objective of this work was to determine the domain of contribution at the double-pass PSF of light scattered in the ocular media and the ocular fundus, using simulated and experimental data for two different wavelengths and for two different pigmentations...
May 2017: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/28391010/monocular-deprivation-of-fourier-phase-information-boosts-the-deprived-eye-s-dominance-during-interocular-competition-but-not-interocular-phase-combination
#14
Jianying Bai, Xue Dong, Sheng He, Min Bao
Ocular dominance has been extensively studied, often with the goal to understand neuroplasticity, which is a key characteristic within the critical period. Recent work on monocular deprivation, however, demonstrates residual neuroplasticity in the adult visual cortex. After deprivation of patterned inputs by monocular patching, the patched eye becomes more dominant. Since patching blocks both the Fourier amplitude and phase information of the input image, it remains unclear whether deprivation of the Fourier phase information alone is able to reshape eye dominance...
June 3, 2017: Neuroscience
https://www.readbyqxmd.com/read/28384719/exome-sequence-analysis-of-14-families-with-high-myopia
#15
Bethany A Kloss, Stuart W Tompson, Kristina N Whisenhunt, Krystina L Quow, Samuel J Huang, Derek M Pavelec, Thomas Rosenberg, Terri L Young
Purpose: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger sequencing was used to confirm variants in original DNA, and to test for disease cosegregation in additional family members. Candidate genes and chromosomal loci previously associated with myopic refractive error and its endophenotypes were comprehensively screened...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28383843/-marfan-syndrome-in-childhood-and-adolescence
#16
S Magotteaux, S Bulk, N Farhat, N Sakalihasan, J-O Defraigne, M-Ch Seghaye
The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ocular and cardiovascular systems. The expression of the Marfan syndrome varies from the severe neonatal presentation to the classical manifestations of the child and young adult, but also comprises isolated features. In children, phenotypical manifestations are age dependent...
July 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28366503/benign-yellow-dot-maculopathy-a-new-macular-phenotype
#17
Arundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, Robert A Sisk, Zubair M Ahmed, Graham E Holder, Valentina Cipriani, Gavin Arno, Andrew R Webster, Robert B Hufnagel, Audina Berrocal, Anthony T Moore
PURPOSE: To describe a novel macular phenotype that is associated with normal visual function. DESIGN: Retrospective, observational case series. PARTICIPANTS: Thirty-six affected individuals from 23 unrelated families. METHODS: This was a retrospective study of patients who had a characteristic macular phenotype. Subjects underwent a full ocular examination, electrophysiologic studies, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence imaging...
March 31, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28357142/aerobic-exercise-effects-on-ocular-dominance-plasticity-with-a-phase-combination-task-in-human-adults
#18
Jiawei Zhou, Alexandre Reynaud, Robert F Hess
Several studies have shown that short-term monocular patching can induce ocular dominance plasticity in normal adults, in which the patched eye becomes stronger in binocular viewing. There is a recent study showing that exercise enhances this plasticity effect when assessed with binocular rivalry. We address one question, is this enhancement from exercise a general effect such that it is seen for measures of binocular processing other than that revealed using binocular rivalry? Using a binocular phase combination task in which we directly measure each eye's contribution to the binocularly fused percept, we show no additional effect of exercise after short-term monocular occlusion and argue that the enhancement of ocular dominance plasticity from exercise could not be demonstrated with our approach...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28341476/panel-based-clinical-genetic-testing-in-85-children-with-inherited-retinal-disease
#19
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, Christopher Campbell, Claire M Delaney, Jamie M Ellingford, Georgina Hall, Claire Hardcastle, Jiten Morarji, Elisabeth J Nichol, Lindsi C Williams, Sofia Douzgou, Jill Clayton-Smith, Simon C Ramsden, Vinod Sharma, Susmito Biswas, I Chris Lloyd, Jane L Ashworth, Graeme C Black, Panagiotis I Sergouniotis
PURPOSE: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). DESIGN: Single-center retrospective case series. PARTICIPANTS: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. METHODS: Participants underwent a detailed ophthalmic examination, accompanied by electrodiagnostic testing (EDT) and dysmorphologic assessment where appropriate...
March 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28339681/on-tear-film-breakup-tbu-dynamics-and-imaging
#20
Richard J Braun, Tobin A Driscoll, Carolyn G Begley, P Ewen King-Smith, Javed I Siddique
We report the results of some recent experiments to visualize tear film dynamics. We then study a mathematical model for tear film thinning and tear film breakup (TBU), a term from the ocular surface literature. The thinning is driven by an imposed tear film thinning rate which is input from in vivo measurements. Solutes representing osmolarity and fluorescein are included in the model. Osmolarity causes osmosis from the model ocular surface, and the fluorescein is used to compute the intensity corresponding closely to in vivo observations...
February 20, 2017: Mathematical Medicine and Biology: a Journal of the IMA
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