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https://www.readbyqxmd.com/read/28749546/familial-progressive-hyperpigmentation-a-family-resurvey-and-ultrastructural-skin-investigation
#1
Tingmei Wang, Hongwen Li, Yingying Dong, Man Hu, Qiuyun She, Yunhua Deng
Familial progressive hyperpigmentation (FPH) is an autosomal dominant genodermatosis characterized by hyperpigmented patches that increase in size and number with age. Since its initial description in an African-American family in 1971, only a few cases of FPH have been documented. A three-generation family with FPH in central China has also been reported. Here, we resurveyed that Chinese FPH family for a few unusual features including delayed age of onset and non-involvement of ocular and oral mucosae. Electron microscopic examination of skin from the proband of the family showed that there were more melanosomes in lesional keratinocytes than in perilesional keratinocytes...
July 27, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28743725/altered-balance-of-receptive-field-excitation-and-suppression-in-visual-cortex-of-amblyopic-macaque-monkeys
#2
Luke E Hallum, Christopher Shooner, Romesh D Kumbhani, Jenna G Kelly, Virginia García-Marín, Najib J Majaj, J Anthony Movshon, Lynne Kiorpes
In amblyopia, a visual disorder caused by abnormal visual experience during development, the amblyopic eye loses visual sensitivity while the other (fellow) eye is largely unaffected. Binocular vision in amblyopes is often disrupted by interocular suppression. We used 96-electrode arrays to record neurons and neuronal groups in areas V1 and V2 of 6 female monkeys (Macaca nemestrina) made amblyopic by artificial strabismus or anisometropia in early life, as well as 2 visually normal female monkeys (Macaca nemestrina)...
July 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28736339/tfos-dews-ii-pain-and-sensation-report
#3
REVIEW
Carlos Belmonte, Jason J Nichols, Stephanie M Cox, James A Brock, Carolyn G Begley, David A Bereiter, Darlene A Dartt, Anat Galor, Pedram Hamrah, Jason J Ivanusic, Deborah S Jacobs, Nancy A McNamara, Mark I Rosenblatt, Fiona Stapleton, James S Wolffsohn
Pain associated to mechanical and chemical irritation of the eye surface is mediated by trigeminal ganglia mechano- and polymodal nociceptor neurons while cold thermoreceptors detect wetness and reflexly maintain basal tear production and blinking rate. These neurons project into two regions of the trigeminal brain stem nuclear complex: ViVc, activated by changes in the moisture of the ocular surface and VcC1, mediating sensory-discriminative aspects of ocular pain and reflex blinking. ViVc ocular neurons project to brain regions that control lacrimation and spontaneous blinking and to the sensory thalamus...
May 4, 2017: Ocular Surface
https://www.readbyqxmd.com/read/28728287/-analysis-of-structure-and-function-of-meibomian-glands-in-healthy-population-at-different-ages
#4
J Hong, H Q Qu
Objective: To observe the structure and function of meibomian glands in normal population at different ages. Methods: From October 2011 to August 2012, meibomian gland information was collected in healthy volunteers without any symptoms of ocular discomfort, aged more than 5 years. The people were grouped by every 10 years of age. The meibomian gland opening, secretion state and characteristics and Max's line were observed by slit lamp microscopic examination, and the meibomian gland dropouts were examined by noncontact infrared meibomian gland microscopy...
July 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28724827/angioid-streaks-in-a-case-of-camurati-engelmann-disease
#5
Bet L Tugcu, Taha Sezer, Ahmet Elbay, Hakan Özdemir
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angioid streaks (ASs) in both fundi with no macular involvement and discuss the possible theories of the pathogenesis of AS in this disease...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28723938/gender-differences-in-cerebral-metabolism-for-color-processing-in-mice-a-pet-mri-study
#6
Philip C Njemanze, Mathias Kranz, Mario Amend, Jens Hauser, Hans Wehrl, Peter Brust
INTRODUCTION: Color processing is a central component of mammalian vision. Gender-related differences of color processing revealed by non-invasive functional transcranial Doppler ultrasound suggested right hemisphere pattern for blue/yellow chromatic opponency by men, and a left hemisphere pattern by women. MATERIALS AND METHODS: The present study measured the accumulation of [18F]fluorodeoxyglucose ([18F]FDG) in mouse brain using small animal positron emission tomography and magnetic resonance imaging (PET/MRI) with statistical parametric mapping (SPM) during light stimulation with blue and yellow filters compared to darkness condition...
2017: PloS One
https://www.readbyqxmd.com/read/28696036/cervical-artery-dissection-expands-the-cardiovascular-phenotype-in-fbn1-related-weill-marchesani-syndrome
#7
Kelsey Newell, Wendy Smith, Brian Ghoshhajra, Eric Isselbacher, Angela Lin, Mark E Lindsay
Weill-Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. Previously described cardiac manifestations of WMS include aortic and pulmonary valve stenosis, mitral valve prolapse, mitral stenosis, and QTc prolongation. Autosomal dominant forms of WMS result from heterozygous pathogenic variants in FBN1, a gene with a well characterized role in the pathogenesis of thoracic aortic aneurysm (TAA) in the context of Marfan syndrome...
July 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28683534/a-case-of-alagille-syndrome-presenting-with-chronic-cholestasis-in-an-adult
#8
Jihye Kim, Bumhee Yang, Namyoung Paik, Yon Ho Choe, Yong-Han Paik
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2...
July 7, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28671928/examiner-handedness-and-the-effects-on-intraocular-pressure-readings-using-the-tono-pen-xl
#9
Alexander G Hacopian, Lauren C Rushing, Alice Z Chuang, Nicholas P Bell, Kartik S Kumar, Robert M Feldman
PURPOSE: To assess the effect of examiner handedness on intraocular pressure (IOP) readings using the Tono-Pen XL in eyes without corneal pathology or previous ocular surgeries. PATIENTS AND METHODS: Patients 18 years of age or older were included in this prospective study. Participants who had a history of corneal conditions or other characteristics that would prevent reliable IOP measurements were excluded. Five experienced examiners, 2 right-hand dominant and 3 left-hand dominant, took bilateral IOP measurements with a Tono-Pen XL...
June 30, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28666510/homocystinuria-hc-and-neurofibromatosis-type-1-nf-1-an-unusual-presentation-in-a-child
#10
Muhammad Amer Yaqub, Muhammad Saim Khan, Asad Habib
Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28665477/visual-acuity-and-image-quality-in-5-diffractive-intraocular-lenses
#11
Genís Cardona, Fidel Vega, Miguel A Gil, Consuelo Varón, José A Buil, María S Millán
PURPOSE: To compare objective image quality at distant, intermediate, and near foci with the corresponding visual acuity (VA) in patients symmetrically implanted with 5 different diffractive multifocal intraocular lenses (IOLs) (ReSTOR SV25T0, Tecnis ZKB00, Tecnis ZLB00, AT LISA 809, and AT LISA Tri 839MP) and a monofocal lens (Tecnis ZA9003) 3 months after cataract intervention. METHODS: Objective image quality, measured as the area under the modulation transfer function curve (AMTF), was tested in vitro in an eye model...
June 26, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28663911/quantifying-melanin-concentration-in-retinal-pigment-epithelium-using-broadband-photoacoustic-microscopy
#12
Xiao Shu, Hao Li, Biqin Dong, Cheng Sun, Hao F Zhang
Melanin is the dominant light absorber in retinal pigment epithelium (RPE). The loss of RPE melanin is a sign of ocular senescence and is both a risk factor and a symptom of age-related macular degeneration (AMD). Quantifying the RPE melanin concentration provides insight into the pathological role of RPE in ocular aging and the onset and progression of AMD. The main challenge in accurate quantification of RPE melanin concentration is to distinguish this ten-micrometer-thick cell monolayer from the underlying choroid, which also contains melanin but carries different pathognomonic information...
June 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28662175/gabab-receptor-dependent-bidirectional-regulation-of-critical-period-ocular-dominance-plasticity-in-cats
#13
Shanshan Cai, Quentin S Fischer, Yu He, Li Zhang, Hanxiao Liu, Nigel W Daw, Yupeng Yang
Gama amino butyric acid (GABA) inhibition plays an important role in the onset and offset of the critical period for ocular dominance (OD) plasticity in the primary visual cortex. Previous studies have focused on the involvement of GABAA receptors, while the potential contribution of GABAB receptors to OD plasticity has been neglected. In this study, the GABAB receptor antagonist SCH50911 or agonist baclofen was infused into the primary visual cortex of cats concurrently with a period of monocular deprivation (MD)...
2017: PloS One
https://www.readbyqxmd.com/read/28646441/safety-efficacy-and-refractive-outcomes-of-lasik-surgery-in-patients-aged-65-or-older
#14
Paloma López-Montemayor, Jorge E Valdez-García, Denise Loya-García, Julio C Hernandez-Camarena
PURPOSE: Report on the safety, efficiency and refractive outcomes of LASIK surgery in patients aged 65 or older. METHODS: This study includes a case series of patients ≥65 years that underwent corneal refractive surgery during the period June 2010 to June 2015 at Hospital Zambrano Hellion, Monterrey, Mexico. Inclusion criteria were normal topography, central corneal thickness >500 μm, preoperative manifest refraction spherical equivalent (MRSE) up to -8...
June 23, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28646240/delineating-function-and-connectivity-of-optokinetic-hubs-in-the-cerebellum-and-the-brainstem
#15
Ria Maxine Ruehl, Carolin Hinkel, Thomas Bauermann, Peter Zu Eulenburg
Optokinetic eye movements are crucial for keeping a stable image on the retina during movements of the head. These eye movements can be differentiated into a cortically generated response (optokinetic look nystagmus) and the highly reflexive optokinetic stare nystagmus, which is controlled by circuits in the brainstem and cerebellum. The contributions of these infratentorial networks and their functional connectivity with the cortical eye fields are still poorly understood in humans. To map ocular motor centres in the cerebellum and brainstem, we studied stare nystagmus using small-field optokinetic stimuli in the horizontal and vertical directions in 22 healthy subjects...
June 23, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#16
Marie H Solheim, Allen C Clermont, Jonathon N Winnay, Erlend Hallstensen, Anders Molven, Pål R Njølstad, Eyvind Rødahl, C Ronald Kahn
Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28627970/genome-wide-codon-usage-profiling-of-ocular-infective-chlamydia-trachomatis-serovars-and-drug-target-identification
#17
Anupriya Sadhasivam, Umashankar Vetrivel
Chlamydia trachomatis (C.t) is a Gram-negative obligate intracellular bacteria and is a major causative of infectious blindness and sexually transmitted diseases. Among the varied serovars of this organism, A, B and C are reported as prominent ocular pathogens. Genomic studies of these strains shall aid in deciphering potential drug targets and genomic influence on pathogenesis. Hence, in this study we performed deep statistical profiling of codon usage in these serovars. The overall base composition analysis reveals that these serovars are over biased to AU than GC...
July 4, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#18
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28607167/the-role-of-creb-srf-and-mef2-in-activity-dependent-neuronal-plasticity-in-the-visual-cortex
#19
Nisha S Pulimood, Rodrigues Wandilson Dos Santos, Devon A Atkinson, Sandra M Mooney, Alexandre E Medina
The transcription factors CREB (cAMP Response Element Binding factor), SRF (Serum Response Factor) and MEF2 (Myocyte Enhancer Factor 2) play critical roles in the mechanisms underlying neuronal plasticity. However, the role of the activation of these transcription factors in the different components of plasticity in vivo is not well known. In this study, we tested the role of CREB, SRF and MEF2 in ocular dominance plasticity (ODP), a paradigm of activity-dependent neuronal plasticity in the visual cortex. These three proteins bind to the Synaptic Activity Response Element (SARE), an enhancer sequence found upstream of many plasticity-related genes (Kawashima et al...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28606456/extended-depth-of-focus-contact-lenses-vs-two-commercial-multifocals-part-1-optical-performance-evaluation-via-computed-through-focus-retinal-image-quality-metrics
#20
Ravi C Bakaraju, Klaus Ehrmann, Arthur Ho
PURPOSE: To compare the computed optical performance of prototype lenses designed using deliberate manipulation of higher-order spherical aberrations to extend depth-of-focus (EDOF) with two commercial multifocals. METHODS: Emmetropic, presbyopic, schematic eyes were coupled with prototype EDOF and commercial multifocal lenses (Acuvue Oasys for presbyopia, AOP, Johnson & Johnson & Air Optix Aqua multifocal, AOMF, Alcon). For each test configuration, the through-focus retinal image quality (TFRIQ) values were computed over 21 vergences, ranging from -0...
June 9, 2017: Journal of Optometry
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