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Ocular dominance

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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
#1
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
#2
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 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28093561/homeostatic-plasticity-mechanisms-in-mouse-v1
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28071682/ocular-dominance-plasticity-inhibitory-interactions-and-contrast-equivalence
#7
Daniel P Spiegel, Alex S Baldwin, Robert F Hess
Brief monocular occlusion results in a transient change in ocular dominance, such that the previously patched eye makes a stronger contribution to the binocular percept after occlusion. The previously unpatched eye therefore makes a correspondingly weaker contribution to the binocular sum. To shed light on the mechanism underlying this change we investigate how the relationship between the perception of fusion, suppression, and diplopia changes after short-term monocular deprivation. Results show that fusible stimuli seen by the unpatched eye are actively suppressed as a result of patching and that this can be reversed by an interocular contrast imbalance...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28060146/combined-effect-of-ocular-and-multifocal-contact-lens-induced-aberrations-on-visual-performance-center-distance-versus-center-near-design
#8
Daniela Lopes-Ferreira, Paulo Fernandes, António Queirós, José M González-Meijome
PURPOSE: To evaluate the combined effects of inherent ocular aberrations and induced aberrations with a multifocal soft contact lens (MFCL) after 15 days of lens wear in presbyopic participants and their influence on visual performance at distance and near under high and low contrast conditions. METHODS: Forty presbyopic participants (mean age, 48.7±3.4) presenting a mean addition of 1.53±0.58 D were fitted with Biofinity Multifocal (CooperVision) and included in the study...
January 4, 2017: Eye & Contact Lens
https://www.readbyqxmd.com/read/28050470/neurofibromatosis-type-1-presenting-with-ophthalmic-features-a-case-series
#9
Gunjan Jain, Vaibhav Kumar Jain, Indra Kumar Sharma, Reena Sharma, Neeraj Saraswat
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28040606/steinert-syndrome-and-repercussions-in-dental-medicine
#10
REVIEW
Helena Baptista, Inês Lopes Cardoso
Steinert syndrome, also called myotonic dystrophy type 1, is a genetic disorder with autosomal dominant transmission characterized by myotonia and a multisystemic clinical picture that affects several tissues of the human body. The most common systemic phenotypes are: muscular, cardiac, respiratory, CNS, ocular, gynecological, digestive, orthopedical, as well as cognitive and psychological symptoms (cognitive decline). Muscles involved in voluntary movement are highly affected by myotonia especially distal muscles of upper limbs...
December 23, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/28039374/removal-of-perineuronal-nets-unlocks-juvenile-plasticity-through-network-mechanisms-of-decreased-inhibition-and-increased-gamma-activity
#11
Kristian Kinden Lensjø, Mikkel Elle Lepperød, Gunnar Dick, Torkel Hafting, Marianne Fyhn
: Perineuronal nets (PNNs) are extracellular matrix structures mainly enwrapping parvalbumin-expressing inhibitory neurons. The assembly of PNNs coincides with the end of the period of heightened visual cortex plasticity in juveniles, while removal of PNNs in adults reopens for plasticity. The mechanisms underlying this phenomenon remain elusive. We have used chronic electrophysiological recordings to investigate accompanying electrophysiological changes to activity-dependent plasticity, and we report on novel mechanisms involved in both induced and critical period plasticity...
December 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28031650/endovascular-repair-of-bilateral-internal-mammary-artery-aneurysms-in-a-patient-with-marfan-syndrome-a-case-report
#12
Hazem Alhawasli, Amir Darki, Bruce E Lewis
Marfan syndrome (MFS) is an autosomal dominant condition that is caused by abnormal synthesis of connective tissue. The syndrome classically affects the ocular, musculoskeletal, and cardiovascular systems. The most common cardiovascular manifestations include mitral valve prolapse/regurgitation and aortic aneurysms at high risk of rupture and dissection. However, internal mammary artery (IMA) true aneurysms are rarely reported. In this case report, we describe a 43-year-old male patient with MFS and three previous thoracotomies referred for endovascular repair of bilateral IMA true aneurysms...
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28018441/a-neonate-with-joubert-syndrome-presenting-with-symptoms-of-horner-syndrome
#13
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018434/a-nonsense-pax6-mutation-in-a-family-with-congenital-aniridia
#14
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017921/hemifield-columns-co-opt-ocular-dominance-column-structure-in-human-achiasma
#15
Cheryl A Olman, Pinglei Bao, Stephen A Engel, Andrea N Grant, Chris Purington, Cheng Qiu, Michael-Paul Schallmo, Bosco S Tjan
In the absence of an optic chiasm, visual input to the right eye is represented in primary visual cortex (V1) in the right hemisphere, while visual input to the left eye activates V1 in the left hemisphere. Retinotopic mapping In V1 reveals that in each hemisphere left and right visual hemifield representations are overlaid (Hoffmann et al., 2012). To explain how overlapping hemifield representations in V1 do not impair vision, we tested the hypothesis that visual projections from nasal and temporal retina create interdigitated left and right visual hemifield representations in V1, similar to the ocular dominance columns observed in neurotypical subjects (Victor et al...
December 23, 2016: NeuroImage
https://www.readbyqxmd.com/read/28003984/incidence-of-orbital-conjunctival-and-lacrimal-gland-malignant-tumors-in-usa-from-surveillance-epidemiology-and-end-results-1973-2009
#16
Waleed M Hassan, Mohamed S Bakry, Housam M Hassan, Ahmad S Alfaar
AIM: To determine the types and incidence of tumors affecting the orbit, conjunctiva and lacrimal glands and to study the trend line of these tumors in the United States from 1973 to 2009. METHODS: We used the publicly available Surveillance, Epidemiology and End Results (SEER) database registries to determine the incidence rates. Age was adjusted to the 2000 US Standard Population. Patients were stratified according to age group, gender, race and histological grouping of tumor lesions...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27940075/decoding-eye-of-origin-outside-of-awareness
#17
Daniel H Baker
In the primary visual cortex of many mammals, ocular dominance columns segregate information from the two eyes. Yet under controlled conditions, most human observers are unable to correctly report the eye to which a stimulus has been shown, indicating that this information is lost during subsequent processing. This study investigates whether eye-of-origin information is available in the pattern of electrophysiological activity evoked by visual stimuli, recorded using EEG and decoded using multivariate pattern analysis...
December 7, 2016: NeuroImage
https://www.readbyqxmd.com/read/27934798/identification-of-a-novel-collagen-type-iv-alpha-4-col4a4-mutation-in-a-chinese-family-with-autosomal-dominant-alport-syndrome-using-exome-sequencing
#18
Sheng Deng, Hongbo Xu, Jinzhong Yuan, Jingjing Xiao, Lamei Yuan, Xiong Deng, Liping Guan, Anding Zhu, Pengfei Rong, Jianguo Zhang, Hao Deng
BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing. METHODS: A 4-generation, 30-member Chinese Han family was enrolled in this study. Exome sequencing was conducted in the proband of the family, and then direct sequencing was performed in family members of the pedigree and 100 normal controls...
August 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27918832/the-effect-of-ambient-titanium-dioxide-microparticle-exposure-to-the-ocular-surface-on-the-expression-of-inflammatory-cytokines-in-the-eye-and-cervical-lymph-nodes
#19
Youngsub Eom, Jong Suk Song, Hyun Kyu Lee, Boram Kang, Hyeon Chang Kim, Hyung Keun Lee, Hyo Myung Kim
Purpose: To investigate the ocular immune response following exposure to airborne titanium dioxide (TiO2) microparticles. Methods: Rats in the TiO2-exposed group (n = 10) were exposed to TiO2 particles for 2 hours twice daily for 5 days, while the controls (n = 10) were not. Corneal staining score and tear lactic dehydrogenase (LDH) activity were measured to evaluate ocular surface damage, serum immunoglobulin (Ig) G and E were assayed by using enzyme-linked immunosorbent assay, and the size of cervical lymph nodes was measured...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27861878/sequence-and-localization-of-an-ultraviolet-sws1-opsin-in-the-retina-of-the-japanese-sardine-sardinops-melanostictus-teleostei-clupeiformes
#20
T Miyazaki, S L Kondrashev, S Kasagi, K Mizusawa, A Takahashi
A full-length complementary (c)DNA encoding ultraviolet (UV)-sensitive opsin (sws1) was isolated from the retina of the Japanese sardine Sardinops melanostictus. The sws1 phylogenetic tree showed a sister group relationship with the Cypriniformes, following the ray-finned fish phylogeny. By expressing reconstituted opsin in vitro, it was determined that the maximum absorbance spectrum (λmax ) of sws1 is around 382 nm, being intermediate in position between two subtypes of sws1 pigment that are UV sensitive (λmax  = 355-380 nm) and violet sensitive (λmax  = 388-455 nm), which have been reported to date...
November 16, 2016: Journal of Fish Biology
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