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Ocular dominance

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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/29771284/non-cell-autonomous-otx2-homeoprotein-regulates-visual-cortex-plasticity-through-gadd45b-g
#2
Jessica Apulei, Namsuk Kim, Damien Testa, Jérôme Ribot, David Morizet, Clémence Bernard, Laurent Jourdren, Corinne Blugeon, Ariel A Di Nardo, Alain Prochiantz
The non-cell autonomous transfer of OTX2 homeoprotein transcription factor into juvenile mouse cerebral cortex regulates parvalbumin interneuron maturation and critical period timing. By analyzing gene expression in primary visual cortex of wild-type and Otx2+/GFP mice at plastic and nonplastic ages, we identified several putative genes implicated in Otx2-dependent visual cortex plasticity for ocular dominance. Cortical OTX2 infusion in juvenile mice induced Gadd45b/g expression through direct regulation of transcription...
May 16, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29761580/cross-modal-restoration-of-ocular-dominance-plasticity-in-adult-mice
#3
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/29760939/novel-tfap2a-mutation-in-a-japanese-family-with-branchio-oculo-facial-syndrome
#4
Taisuke Sato, Osamu Samura, Noriko Kato, Kosuke Taniguchi, Ken Takahashi, Yuki Ito, Hiroaki Aoki, Masahisa Kobayashi, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene ( TFAP2A ). We performed detailed genetic analysis of a Japanese family with clinically suspected BOFS and identified a novel missense mutation resulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding domain of TFAP2A (NM_003220.2:c.699A>C).
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29760388/cell-of-origin-and-mutation-pattern-define-three-clinically-distinct-classes-of-sebaceous-carcinoma
#5
Jeffrey P North, Justin Golovato, Charles J Vaske, J Zachary Sanborn, Andrew Nguyen, Wei Wu, Benjamin Goode, Meredith Stevers, Kevin McMullen, Bethany E Perez White, Eric A Collisson, Michele Bloomer, David A Solomon, Stephen C Benz, Raymond J Cho
Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole-exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny and clinical course. A UV-damage signature predominates in 10/32 samples, while nine show microsatellite instability (MSI) profiles. UV-damage SeC exhibited poorly differentiated, infiltrative histopathology compared to MSI signature SeC (p = 0.003), features previously associated with dissemination...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29742057/the-eye-involvement-in-monogenic-autoinflammatory-diseases-literature-review-and-update
#6
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
#7
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/29719158/recent-advances-in-drug-and-nutrient-transport-across-the-blood-retinal-barrier
#8
Yoshiyuki Kubo, Shin-Ichi Akanuma, Ken-Ichi Hosoya
The blood-retinal barrier (BRB) is the barrier separating the blood and neural retina, and transport systems for low-weight molecules at the BRB are expected to be useful for developing drugs for the treatment of ocular neural disorders and maintaining a healthy retina. Areas covered: This review discusses blood-to-retina and retina-to-blood transport of drugs and nutrients at the BRB. In particular, P-gp (ABCB1/MDR1) has low impact on the transport of cationic drugs at the BRB, suggesting a significant role of novel organic cation transporters in influx and efflux transport of lipophilic cationic drugs between blood and the retina...
May 2, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29718200/dynamic-patterns-of-spontaneous-ongoing-activity-in-the-visual-cortex-of-anesthetized-and-awake-monkeys-are-different
#9
David B Omer, Tomer Fekete, Yigal Ulchin, Rina Hildesheim, Amiram Grinvald
Ongoing internal cortical activity plays a major role in perception and behavior both in animals and humans. Previously we have shown that spontaneous patterns resembling orientation-maps appear over large cortical areas in the primary visual-cortex of anesthetized cats. However, it remains unknown 1) whether spontaneous-activity in the primate also displays similar patterns and 2) whether a significant difference exists between cortical ongoing-activity in the anesthetized and awake primate. We explored these questions by combining voltage-sensitive-dye imaging with multiunit and local-field-potential recordings...
April 27, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29713267/callosal-influence-on-visual-receptive-fields-has-an-ocular-an-orientation-and-direction-bias
#10
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/29691705/retinal-dysfunction-in-a-presymptomatic-patient-with-huntington-s-disease
#11
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/29680227/cerebellar-transcranial-direct-current-stimulation-interacts-with-bdnf-val66met-in-motor-learning
#12
Rick van der Vliet, Zeb D Jonker, Suzanne C Louwen, Marco Heuvelman, Linda de Vreede, Gerard M Ribbers, Chris I De Zeeuw, Opher Donchin, Ruud W Selles, Jos N van der Geest, Maarten A Frens
BACKGROUND: Cerebellar transcranial direct current stimulation has been reported to enhance motor associative learning and motor adaptation, holding promise for clinical application in patients with movement disorders. However, behavioral benefits from cerebellar tDCS have been inconsistent. OBJECTIVE: Identifying determinants of treatment success is necessary. BDNF Val66Met is a candidate determinant, because the polymorphism is associated with motor skill learning and BDNF is thought to mediate tDCS effects...
April 11, 2018: Brain Stimulation
https://www.readbyqxmd.com/read/29666143/truncated-c-terminus-of-fibrillin-1-induces-marfanoid-progeroid-lipodystrophy-mpl-syndrome-in-rabbit
#13
Mao Chen, Bing Yao, Qiangbing Yang, Jichao Deng, Yuning Song, Tingting Sui, Lina Zhou, HaoBing Yao, Yuanyuan Xu, Hongsheng Ouyang, Daxin Pang, Zhanjun Li, Liangxue Lai
Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the FBN1 gene. Here, we describe the generation of a rabbit MPL model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system...
April 9, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29664512/short-stature-and-hypothyroidism-in-a-child-with-nail-patella-syndrome-a-case-report
#14
C Goecke, C Mellado, C García, H García
BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29663723/intraocular-metastasis-of-medullary-thyroid-carcinoma-investigated-by-transscleral-fine-needle-aspiration-a-case-report-and-review-of-the-literature
#15
Małgorzata Gajdzis, Nathalie Cassoux, Maria Lesnik, Caroline Hoffmann, Nathalie Badois, Paweł Gajdzis, Jerzy Klijanienko
Medullary thyroid carcinoma occurs in a sporadic setting and may also be inherited in an autosomal dominant fashion, which is related with germline mutations of the RET gene. Metastases are often present at the time of a diagnosis-most frequently within the cervical lymph nodes, followed by the liver, lungs, and bones. Intraocular metastases are extremely rare. We present a case of choroidal metastasis as a first presentation of disease progression in a patient with Multiple Endocrine Neoplasia type 2A syndrome (MEN2A) who had undergone thyroidectomy 33 years earlier for medullary thyroid carcinoma...
April 16, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29644256/registration-and-alignment-between-in-vivo-functional-and-cytoarchitectonic-maps-of-mouse-visual-cortex
#16
Jun Zhuang, Quanxin Wang, Marc Takeno, Jack Waters
This protocol describes a method for registration of in vivo cortical retinotopic map with cytochrome c oxidase (CO) labeled architectonic maps of the same mouse brain through the alignment of vascular fiducials. By recording surface blood vessel pattern and sequential alignment at each step, this method overcomes the challenge imposed by tissue distortion during perfusion, mounting, sectioning and histology procedures. This method can also be generalized to register and align other types of in vivo functional maps like ocular dominance map and spatial/temporal frequency tuning map with various anatomical maps of mouse cortex...
February 20, 2018: Bio-protocol
https://www.readbyqxmd.com/read/29625462/retinal-pigment-epithelial-cells-control-early-mycobacterium-tuberculosis-infection-via-interferon-signaling
#17
Rina La Distia Nora, Kimberley V Walburg, P Martin van Hagen, Sigrid M A Swagemakers, Peter J van der Spek, Edwin Quinten, Mirjam van Velthoven, Tom H M Ottenhoff, Willem A Dik, Mariëlle C Haks
Purpose: Mycobacterium tuberculosis (Mtb) bacilli have been found in retinal pigment epithelial (RPE) cells from uveitis patients without signs of systemic tuberculosis (TB) infection. RPE cells are important for ocular immune privilege and uveitis development. Methods: To address a potential role for Mtb-infected RPE cells in the development of uveitis, we delineated the response to Mtb infection in human RPE cells and primary human macrophages, the main target cell of Mtb...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29611840/quality-of-care-for-patients-with-diabetes-done-by-family-medicine-team-during-the-period-2013-2016
#18
Larisa Gavran, Salih Tandir, Suad Sivić, Fatima Topčić
Aim To assess whether the quality of diabetes care provided by a family medicine team changed over the course of four years and to identify potential gaps in our practice in order to improve it in the future. Methods An audit was carried out for randomly selected 120 medical records (MC) from the Diabetes Registry of patients with type 1 or 2 diabetes mellitus treated by one family medicine team for four consecutive years, from 2013 to 2016. We examined demographic data (gender, age, diabetes type, family history), annual examinations (glycated haemoglobin, blood glucose, lipid profile, neurological examination, urinalysis, foot care, ocular fundus and body mass index), prescribed insulin or other drugs and patients' education...
August 1, 2018: Medicinski Glasnik
https://www.readbyqxmd.com/read/29574781/time-course-of-cytochrome-oxidase-blob-plasticity-in-the-primary-visual-cortex-of-adult-monkeys-after-retinal-laser-lesions
#19
Mariana F Farias, Leslie G Ungerleider, Sandra S Pereira, Ana Karla J Amorim, Juliana G M Soares, Ricardo Gattass
We studied the time course of changes of cytochrome oxidase (CytOx) blob spatial density and blob cross-sectional area of deprived and non-deprived portions of V1 in four capuchin monkeys after massive and restricted retinal laser lesions. Laser shots at the border of the optic disc produced massive retinal lesions, while low power laser shots in the retina produced restricted retinal lesions. These massive and restricted retinal lesions were intended to stimulate glaucoma and diabetic retinopathy, respectively...
March 25, 2018: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/29566114/multimodal-retinal-imaging-in-incontinentia-pigmenti-including-optical-coherence-tomography-angiography-findings-from-an-older-cohort-with-mild-phenotype
#20
Tin Yan Alvin Liu, Ian C Han, Morton F Goldberg, Marguerite O Linz, Connie J Chen, Adrienne W Scott
Importance: Incontinentia pigmenti (IP) is a rare, X-linked dominant disease with potentially severe ocular complications that predominantly affect the peripheral retina. However, little is known about its effects on the macula. Objective: To describe the structural and vascular abnormalities observed in the maculas of patients with IP and to correlate these findings with peripheral pathologies. Design, Setting, and Participants: Prospective, cross-sectional study at Wilmer Eye Institute, Johns Hopkins University...
March 22, 2018: JAMA Ophthalmology
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