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https://www.readbyqxmd.com/read/29774302/ocular-histopathology-and-immunohistochemical-analysis-in-the-oldest-known-individual-with-autosomal-dominant-vitreoretinochoroidopathy
#1
Morton F Goldberg, Scott McLeod, Mark Tso, Kirk Packo, Malia Edwards, Imran A Bhutto, Rajkumar Baldeosingh, Charles Eberhart, Bernhard H F Weber, Gerard A Lutty
Purpose: To assess the immunohistochemical and histopathological changes in a subject with Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). Design: Case study. Participant: Ninety two year-old Caucasian male with ADVIRC. Methods: The subject was documented clinically for 54 Years. The retina/choroid complex of the right eye was evaluated with cryosections stained with hematoxylin and eosin or periodic acid schiff reagent...
April 2018: Ophthalmology Retina
https://www.readbyqxmd.com/read/29773673/lysosomal-proteome-and-secretome-analysis-identifies-missorted-enzymes-and-their-non-degraded-substrates-in-mucolipidosis-iii-mouse-cells
#2
Giorgia Di Lorenzo, Renata Voltolini Velho, Dominic Winter, Melanie Thelen, Shiva Ahmadi, Michaela Schweizer, Raffaella De Pace, Kerstin Cornils, Timur Alexander Yorgan, Saskia Grüb, Irm Hermans-Borgmeyer, Thorsten Schinke, Sven Müller-Loennies, Thomas Braulke, Sandra Pohl
Targeting of soluble lysosomal enzymes requires mannose 6-phosphate (M6P) signals whose formation is initiated by the hexameric N-acetylglucosamine (GlcNAc)-1-phosphotransferase complex (α2β2γ2). Upon proteolytic cleavage by site-1 protease, the α/β-subunit precursor is catalytically activated but the functions of γ-subunits (Gnptg) in M6P modification of lysosomal enzymes are unknown. To investigate this, we analyzed the Gnptg expression in mouse tissues, primary cultured cells, and in Gnptg reporter mice in vivo, and found high amounts in the brain, eye, kidney, femur, vertebra and fibroblasts...
May 17, 2018: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/29769817/reliability-of-single-leg-balance-and-landing-tests-in-rugby-union-prospect-of-using-postural-control-to-monitor-fatigue
#3
Jordan C Troester, Jason G Jasmin, Rob Duffield
The present study examined the inter-trial (within test) and inter-test (between test) reliability of single-leg balance and single-leg landing measures performed on a force plate in professional rugby union players using commercially available software (SpartaMARS, Menlo Park, USA). Twenty-four players undertook test - re-test measures on two occasions (7 days apart) on the first training day of two respective pre-season weeks following 48h rest and similar weekly training loads. Two 20s single-leg balance trials were performed on a force plate with eyes closed...
June 2018: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/29761580/cross-modal-restoration-of-ocular-dominance-plasticity-in-adult-mice
#4
Manuel Teichert, Marcel Isstas, Yitong Zhang, Jürgen Bolz
The temporal closure of one eye in juvenile and young adult mice induces a shift of the ocular dominance (OD) of neurons in the binocular visual cortex. However, OD-plasticity typically declines with age and is completely absent in matured mice beyond postnatal day (PD) 110. As it has been shown that the deprivation of one sensory input can induce neuronal alterations in non-deprived sensory cortices, we here investigated whether cross-modal interactions have the potential to reinstall OD-plasticity in matured mice...
May 14, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29758338/how-do-children-fall-asleep-a-high-density-eeg-study-of-slow-waves-in-the-transition-from-wake-to-sleep
#5
Mathilde Spiess, Giulio Bernardi, Salome Kurth, Maya Ringli, Flavia M Wehrle, Oskar G Jenni, Reto Huber, Francesca Siclari
INTRODUCTION: Slow waves, the hallmarks of non-rapid eye-movement (NREM) sleep, are thought to reflect maturational changes that occur in the cerebral cortex throughout childhood and adolescence. Recent work in adults has revealed evidence for two distinct synchronization processes involved in the generation of slow waves, which sequentially come into play in the transition to sleep. In order to understand how these two processes are affected by developmental changes, we compared slow waves between children and young adults in the falling asleep period...
May 11, 2018: NeuroImage
https://www.readbyqxmd.com/read/29755353/importance-of-toxicokinetics-to-assess-the-utility-of-zebrafish-larvae-as-model-for-psychoactive-drug-screening-using-meta-chlorophenylpiperazine-mcpp-as-example
#6
Krishna Tulasi Kirla, Ksenia J Groh, Michael Poetzsch, Rakesh Kumar Banote, Julita Stadnicka-Michalak, Rik I L Eggen, Kristin Schirmer, Thomas Kraemer
The number of new psychoactive substances (NPS) increases rapidly, harming society and fuelling the need for alternative testing strategies. These should allow the ever-increasing number of drugs to be tested more effectively for their toxicity and psychoactive effects. One proposed strategy is to complement rodent models with zebrafish ( Danio rerio ) larvae. Yet, our understanding of the toxicokinetics in this model, owing to the waterborne drug exposure and the distinct physiology of the fish, is incomplete...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29751110/electroencephalographic-predictors-of-neuropathic-pain-in-subacute-spinal-cord-injury
#7
Aleksandra Vuckovic, Mohammed Jajrees, Mariel Purcell, Helen Berry, Matthew Fraser
It is widely believed that cortical changes are a consequence of long standing neuropathic pain (NP). In this paper we demonstrate that NP in people with subacute spinal cord injury (SCI) has characteristic electroencephalographic (EEG) markers which precede the onset of pain. EEG was recorded in a relaxed state and during motor imagination tasks in 10 able bodied participants and 31 subacute SCI participants (11 with NP, 10 without NP and 10 who developed pain within 6 months of EEG recording). All 20 SCI participants initially without NP were tested for mechanically induced allodynia but only one person, who later developed pain, reported an unpleasant sensation...
May 8, 2018: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29749240/why-is-it-necessary-to-examine-retina-when-the-patient-suffers-from-aplastic-anemia
#8
D Tomcikova, A Gerinec, B Busanyova, M Gresikova, S Biskup, K Hortnagel
PURPOSES: To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE). BACKGROUND: RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29743050/unmasking-of-intracranial-metastatic-melanoma-during-ipilimumab-nivolumab-therapy-case-report-and-literature-review
#9
Marin A McDonald, Parag Sanghvi, Julie Bykowski, Gregory A Daniels
BACKGROUND: While data from several studies over the last decade has demonstrated that introduction of immunologic checkpoint blockage therapy with anti-CTLA-4/PD-1 drugs leads to improved survival in metastatic melanoma patients, relatively little is known about brain-specific therapeutic response and adverse events in the context of immunotherapeutic treatment of intracranial disease. Here we report two independent cases of new intracranial metastases presenting after initiation of combined checkpoint blockade Ipilimumab and Nivolumab for recurrent metastatic melanoma in the context of positive systemic disease response...
May 9, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29742057/the-eye-involvement-in-monogenic-autoinflammatory-diseases-literature-review-and-update
#10
REVIEW
Jurgen Sota, Antonio Vitale, Claudia Fabiani, Bruno Frediani, Donato Rigante, Gian Marco Tosi, Maria Elisabetta Zannin, Luca Cantarini
Monogenic autoinflammatory diseases (AIDs) are rare entities characterised by improper activation of the innate immune system. This in turn determines recurrent episodes of systemic inflammation characterised by fever, which is variously combined with a wide range of inflammatory manifestations involving the skin, joints, serous membranes, gastrointestinal tract, and central nervous system. As shown by research efforts conducted during the last decade, the eye is not exempt from the systemic inflammatory process and may be involved in almost all of the most frequent AIDs, with several distinct peculiarities...
January 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29724871/anteromedial-thalamic-infarct-a-rare-presentation
#11
Syed H Shabbir, Faryal Nadeem, Daniel Labovitz
We report a rare presentation of an anteromedial thalamic infarct in a 50-year-old woman with acute onset left eye ptosis, vertical gaze paresis and confusion. MRI identified an acute left anteromedial thalamic infarct with a severe left P1 stenosis. Thalamic infarcts are associated with marked neurobehavioural disturbances with dominant thalamic lesions causing language deficits, verbal perseveration, memory disturbances, abulia and disorientation. Ocular movement deficits can also be present and typically accompany paramedian lesions...
May 2, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29718010/phenotypic-variability-in-a-mexican-mestizo-family-with-retinal-vasculopathy-with-cerebral-leukodystrophy-and-trex1-mutation-p-v235gfs-6
#12
Nancy Monroy-Jaramillo, Aurelio Cerón, Elizabeth León, Verónica Rivas, Adriana Ochoa-Morales, María Georgina Arteaga-Alcaraz, Fausto Carlos Nocedal-Rustrian, Cecilia Gallegos, María Elisa Alonso-Vilatela, Teresa Corona, José Flores
Background: Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset, autosomal dominant disease involving microvessels of the brain and eye resulting in central nervous system degeneration with visual disturbances, stroke, motor impairment, and cognitive decline. Frameshift mutations at the C-terminus of TREX1 gene are the molecular cause of this disorder. Objectives: The objective of this study is to present the different clinical manifestations of RVCL in three-related patients and to investigate the presence of TREX1 mutation in the extended genealogy...
2018: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/29716515/eye-injury-from-toxic-chemical-mistaken-for-eye-drops
#13
Richard T Parker, Dominic P McCall, Chameen Samarawickrama
No abstract text is available yet for this article.
May 7, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/29713267/callosal-influence-on-visual-receptive-fields-has-an-ocular-an-orientation-and-direction-bias
#14
Sergio A Conde-Ocazionez, Christiane Jungen, Thomas Wunderle, David Eriksson, Sergio Neuenschwander, Kerstin E Schmidt
One leading hypothesis on the nature of visual callosal connections (CC) is that they replicate features of intrahemispheric lateral connections. However, CC act also in the central part of the binocular visual field. In agreement, early experiments in cats indicated that they provide the ipsilateral eye part of binocular receptive fields (RFs) at the vertical midline (Berlucchi and Rizzolatti, 1968), and play a key role in stereoscopic function. But until today callosal inputs to receptive fields activated by one or both eyes were never compared simultaneously, because callosal function has been often studied by cutting or lesioning either corpus callosum or optic chiasm not allowing such a comparison...
2018: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/29696809/a-noninterventional-study-to-monitor-patients-with-diabetic-macular-oedema-starting-treatment-with-ranibizumab-polaris
#15
Jana Stefanickova, Jose Cunha-Vaz, Michael Ulbig, Ian Pearce, Alvaro Fernández-Vega Sanz, Panagiotis Theodossiadis, Laurent Kodjikian, Alexander Izmailov, Dominic Muston, Zdravko Vassilev, Benedicte Lamotte, Claudia Tückmantel, Sabine Friedl, Andreas Altemark, Hans-Jörg Schwarz, Todd Katz
PURPOSE: Antivascular endothelial growth factor agents are increasingly used in diabetic macular oedema (DME); however, there are few studies exploring their use in DME in real-world settings. METHODS: POLARIS was a noninterventional, multicentre study to monitor 12-month outcomes in patients starting ranibizumab treatment in routine practices. The primary outcome was mean change in visual acuity (VA) from baseline to month 12 (last observation carried forward approach)...
April 25, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29691930/through-focus-optical-characteristics-of-monofocal-and-bifocal-soft-contact-lenses-across-the-peripheral-visual-field
#16
Qiuzhi Ji, Young-Sik Yoo, Hira Alam, Geunyoung Yoon
PURPOSE: To characterise the impact of monofocal soft contact lens (SCL) and bifocal SCLs on refractive error, depth of focus (DoF) and orientation of blur in the peripheral visual field. METHODS: Monofocal and two bifocal SCLs, Acuvue Bifocal (AVB, Johnson & Johnson) and Misight Dual Focus (DF, CooperVision) with +2.0 D add power were modelled using a ray tracing program (ZEMAX) based on their power maps. These SCLs were placed onto the anterior corneal surface of the simulated Atchison myopic eye model to correct for -3...
May 2018: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/29691705/retinal-dysfunction-in-a-presymptomatic-patient-with-huntington-s-disease
#17
Jonelle Knapp, Dean A VanNasdale, Keith Ramsey, Julie Racine
PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD...
April 24, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29690974/iridogoniodysgenesis-a-challenging-case
#18
Afshan Ali, Mahmood Ali, Farah Akhtar
Iridogoniodysgenesis is a rare autosomal dominant disorder affecting anterior segment of the eye. Fifty percent cases of iridogoniodysgenesis have glaucoma, which is particularly difficult to manage. We report here a case of 40 years old man with this rare disorder, presenting to our glaucoma department. It was characterised by iris hypoplasia and juvenile glaucoma. To stop fluctuation in his intraocular pressure (IOP) and to save his vision from glaucomatous damage, our team had to do three different surgical procedures, i...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29686668/emerging-concepts-of-adaptive-immunity-in-leprosy
#19
REVIEW
Soumi Sadhu, Dipendra Kumar Mitra
Leprosy is a chronic intracellular infection caused by the acid-fast bacillus, Mycobacterium leprae . The disease chiefly affects the skin, peripheral nerves, mucosa of the upper respiratory tract, and the eyes. The damage to peripheral nerves results in sensory and motor impairment with characteristic deformities and disability. Presently, the disease remains concentrated in resource-poor countries in tropical and warm temperate regions with the largest number of cases reported from India. Even though innate immunity influences the clinical manifestation of the disease, it is the components of adaptive immune system which seem to tightly correlate with the characteristic spectrum of leprosy...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29681100/bohring-opitz-syndrome-caused-by-an-asxl1-mutation-inherited-from-a-germline-mosaic-mother
#20
Emma Bedoukian, Deborah Copenheaver, Sherri Bale, Matthew Deardorff
Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others). Most patients meeting the clinical criteria for BOS (MIM: 605039) have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited from a germline mosaic mother. The ASXL1 mutation was detected via trio exome sequencing. The sequencing data demonstrated that the variant was inherited maternally but that the maternal variant was underrepresented in comparison to the normal allele...
May 2018: American Journal of Medical Genetics. Part A
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