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https://www.readbyqxmd.com/read/28816964/the-rare-axenfeld-rieger-syndrome-with-systemic-anomalies-a-case-report-and-brief-review-of-literature
#1
Wei Song, Xiaodan Hu
RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28814826/comparison-between-bilateral-implantation-of-a-trifocal-intraocular-lens-and-blended-implantation-of-two-bifocal-intraocular-lenses
#2
César Vilar, Wilson Takashi Hida, André Lins de Medeiros, Klayny Rafaella Pereira Magalhães, Patrick Frensel de Moraes Tzelikis, Mario Augusto Pereira Dias Chaves, Antônio Francisco Pimenta Motta, Pedro Carlos Carricondo, Milton Ruiz Alves, Walton Nosé
PURPOSE: To compare visual outcomes and performance between bilateral implantation of a diffractive trifocal intraocular lens (IOL) Acrysof(®)PanOptix(®) TFNT00 and blended implantation of two different near add power bifocal IOLs: Acrysof(®) Restor(®) SV25T0 in dominant eye and Acrysof(®) Restor(®) SN6AD1 in the nondominant eye. METHODS: This prospective, nonrandomized, consecutive and comparative study assessed 20 patients (40 eyes) who had bilateral cataract surgery performed using the IOLs described...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28814319/constipation-in-adults-with-neurofibromatosis-type-1
#3
Cecilie Ejerskov, Klaus Krogh, John R Ostergaard, Janne L Fassov, Annette Haagerup
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Patients with NF1 were recruited from one of two Danish National Centres of Expertise for NF1 and their unaffected relatives were invited to participate as controls...
August 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28814023/representing-high-dimensional-data-to-intelligent-prostheses-and-other-wearable-assistive-robots-a-first-comparison-of-tile-coding-and-selective-kanerva-coding
#4
Jaden B Travnik, Patrick M Pilarski
Prosthetic devices have advanced in their capabilities and in the number and type of sensors included in their design. As the space of sensorimotor data available to a conventional or machine learning prosthetic control system increases in dimensionality and complexity, it becomes increasingly important that this data be represented in a useful and computationally efficient way. Well structured sensory data allows prosthetic control systems to make informed, appropriate control decisions. In this study, we explore the impact that increased sensorimotor information has on current machine learning prosthetic control approaches...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813578/incomitance-and-eye-dominance-in-intermittent-exotropia
#5
Daniel L Adams, John R Economides, Jonathan C Horton
Purpose: To determine if the deviation angle changes in subjects with intermittent exotropia as they alternate fixation between the right and left eye in primary gaze. Methods: In this prospective observational cohort study, 37 subjects with intermittent exotropia were tested for evidence of incomitance. The position of each eye was recorded with a video tracker during fixation on a small central target. A cover-uncover test was performed by occluding one eye with a shutter that passed infrared light, allowing continuous tracking of both eyes...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28809834/quantifying-infra-slow-dynamics-of-spectral-power-and-heart-rate-in-sleeping-mice
#6
Laura M J Fernandez, Sandro Lecci, Romain Cardis, Gil Vantomme, Elidie Béard, Anita Lüthi
Three vigilance states dominate mammalian life: wakefulness, non-rapid eye movement (non-REM) sleep, and REM sleep. As more neural correlates of behavior are identified in freely moving animals, this three-fold subdivision becomes too simplistic. During wakefulness, ensembles of global and local cortical activities, together with peripheral parameters such as pupillary diameter and sympathovagal balance, define various degrees of arousal. It remains unclear the extent to which sleep also forms a continuum of brain states-within which the degree of resilience to sensory stimuli and arousability, and perhaps other sleep functions, vary gradually-and how peripheral physiological states co-vary...
August 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28805093/monitoring-disease-progression-in-spinocerebellar-ataxias-implications-for-treatment-and-clinical-research
#7
Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Caterina Mariotti
Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials...
August 13, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28802308/vitreous-amyloidosis-with-autonomic-neuropathy-of-the-digestive-tract-associated-with-a-novel-transthyretin-p-gly87arg-variant-in-a-bangladeshi-patient-a-case-report
#8
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix
BACKGROUND: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the gastrointestinal tract, the eyes, the central nervous system, or the kidneys. In some cases of transthyretin amyloidosis, the first clinical manifestation is vitreous opacity...
August 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28801591/new-variant-and-expression-studies-provide-further-insight-into-the-genotype-phenotype-correlation-in-yap1-related-developmental-eye-disorders
#9
R Holt, F Ceroni, D A Bax, S Broadgate, D Gold Diaz, C Santos, D Gerrelli, N K Ragge
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28790183/arc-restores-juvenile-plasticity-in-adult-mouse-visual-cortex
#10
Kyle R Jenks, Taekeun Kim, Elissa D Pastuzyn, Hiroyuki Okuno, Andrew V Taibi, Haruhiko Bito, Mark F Bear, Jason D Shepherd
The molecular basis for the decline in experience-dependent neural plasticity over age remains poorly understood. In visual cortex, the robust plasticity induced in juvenile mice by brief monocular deprivation during the critical period is abrogated by genetic deletion of Arc, an activity-dependent regulator of excitatory synaptic modification. Here, we report that augmenting Arc expression in adult mice prolongs juvenile-like plasticity in visual cortex, as assessed by recordings of ocular dominance (OD) plasticity in vivo...
August 8, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28783031/patterns-in-the-distribution-and-directional-asymmetry-of-fleas-living-on-the-northern-white-breasted-hedgehog-erinaceus-roumanicus
#11
Krzysztof Dudek, Gabor Foldvari, Viktoria Majlathova, Igor Majlath, Krisztina Rigo, Viktor Molnar, Maria Toth, Lukasz Jankowiak, Piotr Tryjanowski
Fleas infecting northern white-breasted hedgehogs, Erinaceus roumanicus (Barrett-Hamilton), collected from 2009-2011 in Budapest (Hungary) were studied. A total of 305 white-breasted hedgehogs were captured and 1,251 fleas were collected. The flea community comprised two species, the hedgehog flea Archaeopsylla erinacei (Bouche, 1835) and the dog flea Ctenocephalides canis (Curtis, 1826), although the latter was only found on three hedgehogs. Fleas were found on half of the host specimens (51%; n = 156) where their distribution was strongly aggregated...
August 4, 2017: Folia Parasitologica
https://www.readbyqxmd.com/read/28782018/hierarchies-in-light-sensing-and-dynamic-interactions-between-ocular-and-extraocular-sensory-networks-in-a-flatworm
#12
Nishan Shettigar, Asawari Joshi, Rimple Dalmeida, Rohini Gopalkrishna, Anirudh Chakravarthy, Siddharth Patnaik, Manoj Mathew, Dasaradhi Palakodeti, Akash Gulyani
Light sensing has independently evolved multiple times under diverse selective pressures but has been examined only in a handful among the millions of light-responsive organisms. Unsurprisingly, mechanistic insights into how differential light processing can cause distinct behavioral outputs are limited. We show how an organism can achieve complex light processing with a simple "eye" while also having independent but mutually interacting light sensing networks. Although planarian flatworms lack wavelength-specific eye photoreceptors, a 25 nm change in light wavelength is sufficient to completely switch their phototactic behavior...
July 2017: Science Advances
https://www.readbyqxmd.com/read/28769595/cavernous-hemangioma-of-the-orbit-an-unusual-acute-presentation
#13
Sophia Louisraj, Thendral Ponnudurai, Dominic Rodriguez, Philip A Thomas, Christadoss Arul Nelson Jesudasan
We report an unusual presentation of an orbital cavernous hemangioma in a 26-year-old female, who noted sudden redness and swelling of the left eye (LE) on waking up. At presentation, upper eyelid edema with periorbital ecchymosis and subconjunctival hemorrhage were noted in the LE. Although there was transient symptomatic relief with topical medications, blurring of vision developed in the LE. When seen 10 days later, the patient's LE showed axial proptosis. Magnetic resonance imaging revealed an intraconal soft tissue mass in the superomedial quadrant of the left orbit...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#14
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28763021/a-review-of-the-benefits-of-nature-experiences-more-than-meets-the-eye
#15
REVIEW
Lara S Franco, Danielle F Shanahan, Richard A Fuller
Evidence that experiences of nature can benefit people has accumulated rapidly. Yet perhaps because of the domination of the visual sense in humans, most research has focused on the visual aspects of nature experiences. However, humans are multisensory, and it seems likely that many benefits are delivered through the non-visual senses and these are potentially avenues through which a physiological mechanism could occur. Here we review the evidence around these lesser studied sensory pathways-through sound, smell, taste, touch, and three non-sensory pathways...
August 1, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28761553/scale-freeness-of-dominant-and-piecemeal-perceptions-during-binocular-rivalry
#16
Fatemeh Bakouie, Morteza Pishnamazi, Roxana Zeraati, Shahriar Gharibzadeh
When two eyes are simultaneously stimulated by two inconsistent images, the observer's perception switches between the two images every few seconds such that only one image is perceived at a time. This phenomenon is named binocular rivalry (BR). However, sometimes the perceived image is a piecemeal mixed of two stimuli known as piecemeal perceptions. In this study, a BR task was designed in which orthogonal gratings are presented to the two eyes. The subjects were trained to report 3 states: dominant perceptions (two state matching to perceived grating orientation) and the piecemeal perceptions (third state)...
August 2017: Cognitive Neurodynamics
https://www.readbyqxmd.com/read/28761125/modeling-dominant-and-recessive-forms-of-retinitis-pigmentosa-by-editing-three-rhodopsin-encoding-genes-in-xenopus-laevis-using-crispr-cas9
#17
Joanna M Feehan, Colette N Chiu, Paloma Stanar, Beatrice M Tam, Sheikh N Ahmed, Orson L Moritz
The utility of Xenopus laevis, a common research subject for developmental biology, retinal physiology, cell biology, and other investigations, has been limited by lack of a robust gene knockout or knock-down technology. Here we describe manipulation of the X. laevis genome using CRISPR/Cas9 to model the human disorder retinitis pigmentosa, and to introduce point mutations or exogenous DNA sequences. We introduced and characterized in-frame and out-of-frame insertions and deletions in three genes encoding rhodopsin by co-injection of Cas9 mRNA, eGFP mRNA, and single guide RNAs into fertilized eggs...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28760867/asymmetric-dichoptic-masking-in-visual-cortex-of-amblyopic-macaque-monkeys
#18
Christopher Shooner, Luke E Hallum, Romesh D Kumbhani, Virginia García-Marín, Jenna G Kelly, Najib J Majaj, J Anthony Movshon, Lynne Kiorpes
In amblyopia, abnormal visual experience leads to an extreme form of eye dominance, in which vision through the non-dominant eye is degraded. A key aspect of this disorder is perceptual suppression: The image seen by the stronger eye often dominates during binocular viewing, blocking the weaker eye's image from reaching awareness. Interocular suppression is the focus of ongoing work aimed at understanding and treating amblyopia, yet its physiological basis remains unknown. We measured binocular interactions in visual cortex of anesthetized amblyopic monkeys (female Macaca nemestrina), using 96-channel 'Utah' arrays to record from populations of neurons in V1 and V2...
July 31, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28757702/clinical-characteristics-of-crouzon-syndrome
#19
L Balyen, L S Deniz Balyen, S Pasa
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure...
May 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28743725/altered-balance-of-receptive-field-excitation-and-suppression-in-visual-cortex-of-amblyopic-macaque-monkeys
#20
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
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