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https://www.readbyqxmd.com/read/29339962/three-new-pax2-gene-mutations-in-patients-with-papillorenal-syndrome
#1
Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29339763/glucocorticoid-receptor-gr%C3%AE-regulates-glucocorticoid-induced-ocular-hypertension-in-mice
#2
Gaurang C Patel, Yang Liu, J Cameron Millar, Abbot F Clark
Prolonged glucocorticoid (GC) therapy can cause GC-induced ocular hypertension (OHT), which if left untreated progresses to iatrogenic glaucoma and permanent vision loss. The alternatively spliced isoform of glucocorticoid receptor GRβ acts as dominant negative regulator of GR activity, and it has been shown that overexpressing GRβ in trabecular meshwork (TM) cells inhibits GC-induced glaucomatous damage in TM cells. The purpose of this study was to use viral vectors to selectively overexpress the GRβ isoform in the TM of mouse eyes treated with GCs, to precisely dissect the role of GRβ in regulating steroid responsiveness...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329175/clinical-description-molecular-analysis-of-twist2-gene-and-surgical-treatment-in-a-patient-with-barber-say-syndrome
#3
Francisca Zuazo, Mirena C Astiazaran, Lourdes Rodríguez-Cabrera, Patricia Garcia-Regil, Oscar Chacon-Camacho, José L Tovilla-Canales, Juan C Zenteno
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms...
January 10, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29325383/-clinical-features-and-surgical-outcomes-of-acute-acquired-comitant-esotropia
#4
M Y Ren, Q Wang, L H Wang
Objective: To investigate the clinical features and surgical outcomes of patients with acute acquired concomitant esotropia (AACE) type Ⅱ(AACE-Ⅱ) and type Ⅲ (AACE-Ⅲ). Methods: Retrospective case series analysis. Medical records of consecutive patients who underwent strabismus surgery for AACE-Ⅱ and AACE-Ⅲ in Shandong Provincial Hospital affiliated to Shandong University between January 2011 and June 2016 with a minimum follow-up time of 3 months were collected. Each patient underwent a complete ophthalmological and orthoptic examination to exclude esotropia resulting from other reasons, and a systemic assessment to exclude AACE related to intracranial and systemic diseases...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29312774/marfan-syndrome-with-pneumothorax-case-report-and-review-of-literatures
#5
Weiming Hao, Yong Fang, Hao Lai, Yaxing Shen, Hao Wang, Miao Lin, Lijie Tan
Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus...
December 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29301791/deletion-of-the-von-hippel-lindau-gene-in-hemangioblasts-causes-hemangioblastoma-like-lesions-in-murine-retina
#6
Herui Wang, Matthew Shepard, Chao Zhang, Lijin Dong, Dyvon T Walker, Liliana Guedez, Stanley Park, Yujuan Wang, Shida Chen, Ying Pang, Qi Zhang, Chun Gao, Wai T Wong, Henry Wiley, Karel Pacak, Emily Y Chew, Zhengping Zhuang, Chi-Chao Chan
von Hippel-Lindau (VHL) disease is an autosomal dominant tumor predisposition syndrome characterized by the development of highly vascularized tumors and cysts. Loss of heterozygosity (LOH) of the VHL gene results in aberrant upregulation of hypoxia-inducible factors (HIF) and has been associated with tumor formation. Hemangioblastomas of the central nervous system and retina represent the most prevalent VHL-associated tumors, but no VHL animal model has reproduced retinal capillary hemangioblastomas (RCH), the hallmark lesion of ocular VHL...
January 4, 2018: Cancer Research
https://www.readbyqxmd.com/read/29298970/-ocular-symptoms-in-von-recklinghausen-disease
#7
REVIEW
Mateusz Nowak, Lidia Nowak, Jacek Nowak, Piotr Chaniecki
Von Recklinghausen disease is a genetic disease with autosomal dominant, belonging to the group phakomatoses. In the clinical picture of the disease are skin lesions, eye, bone, intracranial tumors and other cancers of the extracranial location. Due to the high variability of clinical symptoms often diagnosis is delayed in cases of mild expression. The prognosis depends on the location and extent of the change and only symptomatic treatment have a tendency to change regrowth.
December 22, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29185945/alagille-syndrome-an-overview
#8
Dalacy Jesina
Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. This syndrome mainly affects the liver, causing significant cholestasis, which is caused by a paucity of intrahepatic bile ducts. There can be cardiac involvement, including, but not limited to, pulmonary stenosis and tetralogy of Fallot. Patients can also present with butterfly vertebra, ocular issues, and vascular events. Because this syndrome follows an autosomal dominant inheritance, it can have variable expression even in the same family line...
November 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/29184207/lateral-geniculate-neurons-projecting-to-primary-visual-cortex-show-ocular-dominance-plasticity-in-adult-mice
#9
Juliane Jaepel, Mark Hübener, Tobias Bonhoeffer, Tobias Rose
Experience-dependent plasticity in the mature visual system is widely considered to be cortical. Using chronic two-photon Ca2+ imaging of thalamic afferents in layer 1 of binocular visual cortex, we provide evidence against this tenet: the respective dorsal lateral geniculate nucleus (dLGN) cells showed pronounced ocular dominance (OD) shifts after monocular deprivation in adult mice. Most (86%), but not all, of dLGN cell boutons were monocular during normal visual experience. Following deprivation, initially deprived-eye-dominated boutons reduced or lost their visual responsiveness to that eye and frequently became responsive to the non-deprived eye...
December 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/29184199/thalamic-inhibition-regulates-critical-period-plasticity-in-visual-cortex-and-thalamus
#10
Jean-Pierre Sommeijer, Mehran Ahmadlou, M Hadi Saiepour, Koen Seignette, Rogier Min, J Alexander Heimel, Christiaan N Levelt
During critical periods of development, experience shapes cortical circuits, resulting in the acquisition of functions used throughout life. The classic example of critical-period plasticity is ocular dominance (OD) plasticity, which optimizes binocular vision but can reduce the responsiveness of the primary visual cortex (V1) to an eye providing low-grade visual input. The onset of the critical period of OD plasticity involves the maturation of inhibitory synapses within V1, specifically those containing the GABAA receptor α1 subunit...
December 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/29172724/distribution-and-diversity-of-ocular-microbial-communities-in-diabetic-patients-compared-with-healthy-subjects
#11
Baknoon Ham, Hyung Bin Hwang, Sang Hoon Jung, Sungyul Chang, Kui Dong Kang, Man Jae Kwon
PURPOSE: The aim of this study was to identify differences in the major (core vs. variable) microbial genera of human subjects with and without diabetes. METHODS: Bacterial 16S rRNA genes obtained from conjunctival swabs of 19 healthy subjects and 30 diabetic patients were sequenced using the Illumina MiSeq platform, and the sequencing data were analyzed using QIIME 1.9.1. To elucidate the microbial diversity in the ocular surface (OS), test programs from various bioinformatics domains were used...
November 27, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29168044/potential-selection-bias-in-candidates-for-stereotactic-radiotherapy-for-neovascular-amd
#12
Christoph Ehlken, Daniel Böhringer, Hansjürgen T Agostini, Bastian Grundel, Milena Stech
PURPOSE: Stereotactic radiotherapy (SRT, IRay) was able to reduce the need for intravitreal injections of anti-VEGF (IVI) in patients with neovascular AMD (nAMD) in a phase II randomized clinical trial. Certain morphologic characteristics, such as lesion size < 4 mm(2) or lack of fibrosis, were associated with a better response. The purpose of this cross-sectional study was to investigate eligibility for SRT in a clinical routine setting and to compare clinical features of eligible and non-eligible patients...
November 22, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29160741/the-best-of-both-worlds-adaptation-during-natural-tasks-produces-long-lasting-plasticity-in-perceptual-ocular-dominance
#13
Min Bao, Bo Dong, Lijuan Liu, Stephen A Engel, Yi Jiang
In human vision, one eye is usually stronger than the other. This is called ocular dominance. Extremely imbalanced ocular dominance can be found among certain patient groups, for example, in patients with amblyopia. Here, we introduce a novel method to rebalance ocular dominance. We developed an altered-reality system that subjects used to interact with the natural world, the appearance of which was changed through a real-time image process. Several daily adaptation sessions lasting 3 hr each reduced sensory ocular dominance in adults who were not diagnosed with amblyopia and improved vision in patients with amblyopia...
November 1, 2017: Psychological Science
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#14
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29136273/foxe3-mutations-genotype-phenotype-correlations
#15
J Plaisancié, N K Ragge, H Dollfus, J Kaplan, D Lehalle, C Francannet, G Morin, H Colineaux, P Calvas, N Chassaing
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Amongst these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with a MA phenotype...
November 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29118195/binocular-deprivation-induces-both-age-dependent-and-age-independent-forms-of-plasticity-in-parvalbumin-inhibitory-neuron-visual-response-properties
#16
Berquin D Feese, Diego E Pafundo, Meredith N Schmehl, Sandra J Kuhlman
Activity of cortical inhibitory interneurons is rapidly reduced in response to monocular deprivation during the critical period for ocular dominance plasticity and in response to salient events encountered during learning. In the case of primary sensory cortex, a decrease in mean evoked firing rate of parvalbumin-positive (PV) inhibitory neurons is causally linked to a reorganization of excitatory networks following sensory perturbation. Converging evidence indicates that it is deprivation, and not an imbalance between open and closed eye inputs, that triggers rapid plasticity in PV neurons...
November 8, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29111362/the-cortical-mechanisms-underlying-ocular-dominance-plasticity-in-adults-are-not-orientationally-selective
#17
Yonghua Wang, Zhimo Yao, Zhifen He, Jiawei Zhou, Robert F Hess
Recently, it has been shown that short-term monocular deprivation in adult humans can temporally shift the ocular dominance in favor of the deprived eye. It is not clear whether this form of ocular dominance plasticity can be explained by cortical contrast adaptation, which is known to be orientationally selective. Here we show that if only one eye is deprived of a limited band of orientations for a short period of 2.5 h, the deprived eye's contribution to binocular function at all orientations rather than just those corresponding to the previously deprived orientations is strengthened...
October 27, 2017: Neuroscience
https://www.readbyqxmd.com/read/29110737/a-microdeletion-in-the-grhl2-gene-in-two-unrelated-patients-with-congenital-fibrosis-of-the-extra-ocular-muscles
#18
Khaled K Abu-Amero, Altaf A Kondkar, Arif O Khan
OBJECTIVE: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore, a candidate gene analysis (KIF21A, TUBB3 SALL4, CHN1, HOXA1) and a high-resolution array comparative genomic hybridization (arrayCGH) was performed in two unrelated children with sporadic CFEOM1. RESULTS: Two unrelated Saudi patients did not have any mutation(s) after sequencing the full coding regions of SALL4, CHN1, HOXA1, and TUBB3 genes; and exons 8, 20, and 21 of the KIF21A gene...
November 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29100920/4q25-microdeletion-encompassing-pitx2-a-patient-presenting-with-tetralogy-of-fallot-and-dental-anomalies-without-ocular-features
#19
P Vande Perre, C Zazo Seco, O Patat, L Bouneau, A Vigouroux, D Bourgeois, S El Hout, N Chassaing, P Calvas
Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations of FOXC1 and PITX2 are responsible for about 40% of the ARS cases. We describe the phenotype of a patient carrying a deletion encompassing the 4q25 locus containing PITX2 gene. This child presented with a congenital heart defect (Tetralogy of Fallot, TOF) and no signs of ARA...
October 31, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29097542/lattice-system-of-functionally-distinct-cell-types-in-the-neocortex
#20
Hisato Maruoka, Nao Nakagawa, Shun Tsuruno, Seiichiro Sakai, Taisuke Yoneda, Toshihiko Hosoya
The mammalian neocortex contains many cell types, but whether they organize into repeated structures has been unclear. We discovered that major cell types in neocortical layer 5 form a lattice structure in many brain areas. Large-scale three-dimensional imaging revealed that distinct types of excitatory and inhibitory neurons form cell type-specific radial clusters termed microcolumns. Thousands of microcolumns, in turn, are patterned into a hexagonal mosaic tessellating diverse regions of the neocortex. Microcolumn neurons demonstrate synchronized in vivo activity and visual responses with similar orientation preference and ocular dominance...
November 3, 2017: Science
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