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Ocular dominance

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https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#1
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28292832/functional-organization-of-vestibulo-ocular-responses-in-abducens-motoneurons
#2
Haike Dietrich, Stefan Glasauer, Hans Straka
Vestibulo-ocular reflexes (VOR) are the dominating contributors to gaze stabilization in all vertebrates. During horizontal head movements, abducens motoneurons form the final element of the reflex arc that integrates visuo-vestibular inputs into temporally precise motor commands for the lateral rectus eye muscle. Here, we studied a possible differentiation of abducens motoneurons into subtypes by evaluating their morphology, discharge properties and synaptic pharmacology in semi-intact in vitro preparations of larval Xenopus laevis Extracellular nerve recordings during sinusoidal head motion revealed a continuum of resting rates and activation thresholds during vestibular stimulation...
March 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28271408/moving-or-being-moved-that-makes-a-difference
#3
Hans Straka, Boris P Chagnaud
During head/body movements, gaze stability is ensured by transformation of motion-related sensory signals into respective motor commands. Passively induced motion in all vertebrates including amphibians evokes a robust vestibulo-ocular reflex, suggesting an equally important role of this motor reaction during actively induced motion. However, during self-induced movements including locomotion, motor efference copies offer a convenient additional substrate for counteracting retinal image displacements. During such locomotor activity in Xenopus laevis tadpoles, spinal central pattern generator-derived efference copies elicit spatio-temporally specific eye movements, which are functionally appropriate to offset swimming-related retinal image displacements...
March 7, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28262490/monocular-perceptual-deprivation-from-interocular-suppression-temporarily-imbalances-ocular-dominance
#4
Hyun-Woong Kim, Chai-Youn Kim, Randolph Blake
Early visual experience sculpts neural mechanisms that regulate the balance of influence exerted by the two eyes on cortical mechanisms underlying binocular vision [1, 2], and experience's impact on this neural balancing act continues into adulthood [3-5]. One recently described, compelling example of adult neural plasticity is the effect of patching one eye for a relatively short period of time: contrary to intuition, monocular visual deprivation actually improves the deprived eye's competitive advantage during a subsequent period of binocular rivalry [6-8], the robust form of visual competition prompted by dissimilar stimulation of the two eyes [9, 10]...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28250773/meretoja-s-syndrome-lattice-corneal-dystrophy-gelsolin-type
#5
I Casal, S Monteiro, C Abreu, M Neves, L Oliveira, M Beirão
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28250050/a-novel-mouse-model-of-anterior-segment-dysgenesis-asd-conditional-deletion-of-tsc1-disrupts-ciliary-body-and-iris-development
#6
Anna-Carin Hägglund, Iwan Jones, Leif Carlsson
Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD) encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld-Rieger syndrome, respectively...
March 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28245802/characterization-of-two-novel-intronic-opa1-mutations-resulting-in-aberrant-pre-mrna-splicing
#7
Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati, André Schaller
BACKGROUND: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. METHODS: We analyzed two unrelated families including four affected individuals clinically suspicious of ADOA. Standard ocular examinations were performed in affected individuals of both families...
February 28, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28237412/importance-of-accommodation-and-eye-dominance-for-measuring-objective-refractions
#8
Yukari Tsuneyoshi, Kazuno Negishi, Kazuo Tsubota
PURPOSE: To explore factors affecting the difference between objective refractive data measured under monocular closed-field viewing and binocular open-field viewing. DESIGN: Prospective observational case series. METHODS: Setting: Institutional. STUDY POPULATION: Twenty-nine healthy volunteers (58 eyes; mean age, 38.4±10.0 years; range, 25-60 years). OBSERVATION PROCEDURES: Objective monocular refractions (MR) measured with the Nidek Auto Ref/Keratometer ARK-730A; objective binocular refractions (BR) and objective accommodative amplitude (AA) measured with the Grand Seiko Auto Ref/Keratometer WAM-5500; ocular dominance measured using the hole-in-the-card test; presence and magnitude of far/near (30 cm) phoria evaluated by the cover test and alternating cover test using a prism bar...
February 22, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28237041/diagnostic-and-prognostic-relevance-of-the-cutaneous-manifestations-of-neurofibromatosis-type-2
#9
A Plana-Pla, I Bielsa-Marsol, C Carrato-Moñino
Neurofibromatosis type 2 is an autosomal dominant hereditary disease with complete penetrance. It gives rise to multiple central and peripheral nervous system tumors, ocular alterations, and various types of skin lesion. In general, neither dermatologists nor other specialists have in-depth knowledge of the clinical manifestations of neurofibromatosis type 2. In some cases, this can lead to delayed diagnosis, which can increase morbidity and mortality. We describe the less well known clinical manifestations of NF2, focusing particularly on skin lesions specific to this disease...
February 22, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28213116/pushing-the-limits-of-ultra-high-resolution-human-brain-imaging-with-sms-epi-demonstrated-for-columnar-level-fmri
#10
David A Feinberg, An T Vu, Alexander Beckett
Encoding higher spatial resolution in simultaneous multi-slice (SMS) EPI is highly dependent on gradient performance, high density receiver coil arrays and pulse sequence optimization. We simulate gradient amplitude and slew rate determination of EPI imaging performance in terms of minimum TE, echo spacing (ES) and spatial resolution. We discuss the effects of image zooming in pulse sequences that have been used for sub-millimeter resolutions and the trade-offs in using partial Fourier and parallel imaging to reduce TE, PSF and ES...
February 14, 2017: NeuroImage
https://www.readbyqxmd.com/read/28195981/clinical-features-in-a-case-of-occult-macular-dystrophy-with-rp1l1-mutation
#11
Yun Fu, Kuan-Jen Chen, Chi-Chun Lai, Wei-Chi Wu, Nan-Kai Wang
PURPOSE: To investigate appropriate diagnostic testing for occult macular dystrophy (OMD) in a patient with unexplained progressive visual loss. METHODS: Observational case report. RESULTS: Occult macular dystrophy is an uncommon autosomal dominant macular disease, but sporadic occurrences have been noted. We report a patient with progressive visual decline, but with normal findings in fundus photography, visual field, fluorescein angiography, and full-field standard electroretinography...
February 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28163935/short-term-monocular-deprivation-enhances-physiological-pupillary-oscillations
#12
Paola Binda, Claudia Lunghi
Short-term monocular deprivation alters visual perception in adult humans, increasing the dominance of the deprived eye, for example, as measured with binocular rivalry. This form of plasticity may depend upon the inhibition/excitation balance in the visual cortex. Recent work suggests that cortical excitability is reliably tracked by dilations and constrictions of the pupils of the eyes. Here, we ask whether monocular deprivation produces a systematic change of pupil behavior, as measured at rest, that is independent of the change of visual perception...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28150723/short-term-monocular-occlusion-produces-changes-in-ocular-dominance-by-a-reciprocal-modulation-of-interocular-inhibition
#13
Eva Chadnova, Alexandre Reynaud, Simon Clavagnier, Robert F Hess
Ocular dominance can be modulated by short-term monocular deprivation. This changes the contribution that each eye makes to binocular vision, an example of adult cortical neuroplasticity. Optical imaging in primates and psychophysics in humans suggest these neuroplastic changes occur in V1. Here we use brain imaging (MEG) in normal adults to better understand the nature of these neuroplastic changes. The results suggest that short-term monocular deprivation, whether it be by an opaque or translucent patch, modulates dichoptic inhibitory interactions in a reciprocal fashion; the unpatched eye is inhibited, the patched eye is released from inhibition...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101530/integrative-analysis-of-disease-signatures-shows-inflammation-disrupts-juvenile-experience-dependent-cortical-plasticity
#14
Milo R Smith, Poromendro Burman, Masato Sadahiro, Brian A Kidd, Joel T Dudley, Hirofumi Morishita
Throughout childhood and adolescence, periods of heightened neuroplasticity are critical for the development of healthy brain function and behavior. Given the high prevalence of neurodevelopmental disorders, such as autism, identifying disruptors of developmental plasticity represents an essential step for developing strategies for prevention and intervention. Applying a novel computational approach that systematically assessed connections between 436 transcriptional signatures of disease and multiple signatures of neuroplasticity, we identified inflammation as a common pathological process central to a diverse set of diseases predicted to dysregulate plasticity signatures...
November 2016: ENeuro
https://www.readbyqxmd.com/read/28098115/a-novel-fibrillin-1-mutation-in-an-egyptian-marfan-family-a-proband-showing-nephrotic-syndrome-due-to-focal-segmental-glomerulosclerosis
#15
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28095098/reduced-penetrance-in-a-large-caucasian-pedigree-with-stickler-syndrome
#16
Stuart W Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L Yanovitch, Kristina N Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M Stone, Max Johnson, Terri L Young
BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant. MATERIALS AND METHODS: Genomic DNA samples collected from 40 family members were analyzed. A whole-genome linkage scan was performed using Illumina HumanLinkage-24 BeadChip followed by two-point and multipoint linkage analyses using FASTLINK and MERLIN...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28093561/homeostatic-plasticity-mechanisms-in-mouse-v1
#17
REVIEW
Megumi Kaneko, Michael P Stryker
Mechanisms thought of as homeostatic must exist to maintain neuronal activity in the brain within the dynamic range in which neurons can signal. Several distinct mechanisms have been demonstrated experimentally. Three mechanisms that act to restore levels of activity in the primary visual cortex of mice after occlusion and restoration of vision in one eye, which give rise to the phenomenon of ocular dominance plasticity, are discussed. The existence of different mechanisms raises the issue of how these mechanisms operate together to converge on the same set points of activity...
March 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28093553/enhancement-of-visual-cortex-plasticity-by-dark-exposure
#18
Irina Erchova, Asta Vasalauskaite, Valentina Longo, Frank Sengpiel
Dark rearing is known to delay the time course of the critical period for ocular dominance plasticity in the visual cortex. Recent evidence suggests that a period of dark exposure (DE) may enhance or reinstate plasticity even after closure of the critical period, mediated through modification of the excitatory-inhibitory balance and/or removal of structural brakes on plasticity. Here, we investigated the effects of a week of DE on the recovery from a month of monocular deprivation (MD) in the primary visual cortex (V1) of juvenile mice...
March 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28093546/time-course-and-mechanisms-of-homeostatic-plasticity-in-layers-2-3-and-5-of-the-barrel-cortex
#19
Stanislaw Glazewski, Stuart Greenhill, Kevin Fox
Recent studies have shown that ocular dominance plasticity in layer 2/3 of the visual cortex exhibits a form of homeostatic plasticity that is related to synaptic scaling and depends on TNFα. In this study, we tested whether a similar form of plasticity was present in layer 2/3 of the barrel cortex and, therefore, whether the mechanism was likely to be a general property of cortical neurons. We found that whisker deprivation could induce homeostatic plasticity in layer 2/3 of barrel cortex, but not in a mouse strain lacking synaptic scaling...
March 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#20
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
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