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https://www.readbyqxmd.com/read/28641277/association-of-the-cfh-y402h-polymorphism-with-the-1-year-response-of-exudative-amd-to-intravitreal-anti-vegf-treatment-in-the-brazilian-population
#1
Flavio Mac Cord Medina, Augusto Alves Lopes da Motta, Walter Yukihiko Takahashi, Pedro Carlos Carricondo, Mario Martins Dos Santos Motta, Monica B Melo, Jose Paulo C Vasconcellos
AIM: Evidence of the relationship between the polymorphism of the complement factor H (CFH) gene at position 402 (Y402H) and the response to the treatment of wet AMD is controversial. The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population. METHODS: Forty-six patients treated for wet AMD with bevacizumab or ranibizumab in a pro re nata regimen were included...
June 23, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28641113/enhanced-functional-genomic-screening-identifies-novel-mediators-of-dual-leucine-zipper-kinase-dependent-injury-signaling-in-neurons
#2
Derek S Welsbie, Katherine L Mitchell, Vinod Jaskula-Ranga, Valentin M Sluch, Zhiyong Yang, Jessica Kim, Eugen Buehler, Amit Patel, Scott E Martin, Ping-Wu Zhang, Yan Ge, Yukan Duan, John Fuller, Byung-Jin Kim, Eman Hamed, Xitiz Chamling, Lei Lei, Iain D C Fraser, Ze'ev A Ronai, Cynthia A Berlinicke, Donald J Zack
Dual leucine zipper kinase (DLK) has been implicated in cell death signaling secondary to axonal damage in retinal ganglion cells (RGCs) and other neurons. To better understand the pathway through which DLK acts, we developed enhanced functional genomic screens in primary RGCs, including use of arrayed, whole-genome, small interfering RNA libraries. Explaining why DLK inhibition is only partially protective, we identify leucine zipper kinase (LZK) as cooperating with DLK to activate downstream signaling and cell death in RGCs, including in a mouse model of optic nerve injury, and show that the same pathway is active in human stem cell-derived RGCs...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641110/sox11-expression-promotes-regeneration-of-some-retinal-ganglion-cell-types-but-kills-others
#3
Michael W Norsworthy, Fengfeng Bei, Riki Kawaguchi, Qing Wang, Nicholas M Tran, Yi Li, Benedikt Brommer, Yiming Zhang, Chen Wang, Joshua R Sanes, Giovanni Coppola, Zhigang He
At least 30 types of retinal ganglion cells (RGCs) send distinct messages through the optic nerve to the brain. Available strategies of promoting axon regeneration act on only some of these types. Here we tested the hypothesis that overexpressing developmentally important transcription factors in adult RGCs could reprogram them to a "youthful" growth-competent state and promote regeneration of other types. From a screen of transcription factors, we identified Sox11 as one that could induce substantial axon regeneration...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641094/emerging-concepts-in-cytomegalovirus-infection-following-hematopoietic-stem-cell-transplantation
#4
REVIEW
Jose F Camargo, Krishna V Komanduri
Despite the refinements in molecular methods for the detection of cytomegalovirus (CMV) and the advent of highly effective preemptive strategies, CMV remains a leading cause of morbidity and mortality in hematopoietic cell transplant (HCT) recipients. CMV can cause tissue-invasive disease including pneumonia, hepatitis, colitis, retinitis, and encephalitis. Mortality in HCT recipients with CMV disease can be as high as 60%. CMV infection has been associated with increased risk of secondary bacterial and fungal infections, increased risk of graft-versus-host disease, and high rates of nonrelapse mortality following HCT...
June 14, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28640893/oroxylin-a-promotes-retinal-ganglion-cell-survival-in-a-rat-optic-nerve-crush-model
#5
Shu-Fang Lin, Jia-Ying Chien, Kishan Kapupara, Chi-Ying F Huang, Shun-Ping Huang
PURPOSE: To investigate the effect of oroxylin A on the survival of retinal ganglion cells (RGC) and the activation of microglial cells in a rat optic nerve (ON) crush model. METHODS: Oroxylin A (15mg/Kg in 0.2ml phosphate-buffered saline) or phosphate-buffered saline (PBS control) was immediately administered after ON crush once by subcutaneous injection. Rats were euthanized at 2 weeks after the crush injury. The density of RGC was counted by retrograde labeling with FluoroGold and immunostaining of retina flat mounts for Brn3a...
2017: PloS One
https://www.readbyqxmd.com/read/28640840/applying-artificial-intelligence-to-disease-staging-deep-learning-for-improved-staging-of-diabetic-retinopathy
#6
Hidenori Takahashi, Hironobu Tampo, Yusuke Arai, Yuji Inoue, Hidetoshi Kawashima
PURPOSE: Disease staging involves the assessment of disease severity or progression and is used for treatment selection. In diabetic retinopathy, disease staging using a wide area is more desirable than that using a limited area. We investigated if deep learning artificial intelligence (AI) could be used to grade diabetic retinopathy and determine treatment and prognosis. METHODS: The retrospective study analyzed 9,939 posterior pole photographs of 2,740 patients with diabetes...
2017: PloS One
https://www.readbyqxmd.com/read/28640837/identification-and-prediction-of-alternative-transcription-start-sites-that-generate-rod-photoreceptor-specific-transcripts-from-ubiquitously-expressed-genes
#7
Evgenya Y Popova, Anna C Salzberg, Chen Yang, Samuel Shao-Min Zhang, Colin J Barnstable
Transcriptome complexity is substantially increased by the use of multiple transcription start sites for a given gene. By utilizing a rod photoreceptor-specific chromatin signature, and the RefSeq database of established transcription start sites, we have identified essentially all known rod photoreceptor genes as well as a group of novel genes that have a high probability of being expressed in rod photoreceptors. Approximately half of these novel rod genes are transcribed into multiple mRNA and/or protein isoforms through alternative transcriptional start sites (ATSS), only one of which has a rod-specific epigenetic signature and gives rise to a rod transcript...
2017: PloS One
https://www.readbyqxmd.com/read/28640816/topographic-independent-component-analysis-reveals-random-scrambling-of-orientation-in-visual-space
#8
Marina Martinez-Garcia, Luis M Martinez, Jesús Malo
Neurons at primary visual cortex (V1) in humans and other species are edge filters organized in orientation maps. In these maps, neurons with similar orientation preference are clustered together in iso-orientation domains. These maps have two fundamental properties: (1) retinotopy, i.e. correspondence between displacements at the image space and displacements at the cortical surface, and (2) a trade-off between good coverage of the visual field with all orientations and continuity of iso-orientation domains in the cortical space...
2017: PloS One
https://www.readbyqxmd.com/read/28640657/retinal-findings-on-oct-in-systemic-conditions
#9
Preeti Patil Chhablani, Vikas Ambiya, Akshay G Nair, Sailaja Bondalapati, Jay Chhablani
PURPOSE: Imaging technology has advanced by leaps and bounds in the recent past and has resulted in a much greater understanding of ocular diseases. The aim of this review article is to summarize optical coherence tomography (OCT) findings of various systemic conditions. METHOD: A systematic literature search of the Medline/PubMed database was performed. English articles up to April 2015 were included. Terms used for search included: Alzheimer's Disease; Multiple Sclerosis; Parkinson's Disease; Behçet's Disease; Schizophrenia; Migraine; Obstructive Sleep Apnea Syndrome; Neurofibromatosis; Sickle Cell Disease; Renal diseases; Lupus Retinopathy; Valsalva Retinopathy; Whiplash Retinopathy; Shaken-Baby Syndrome; Choroidal metastases; Intracranial Hypertension; Drug toxicity; Deferoxamine; Sildenafil; Tamoxifen; Hydroxychloroquine; Chloroquine; Ethambutol; Lead; Sickle Cell Disease; and Thalassemia along with OCT...
June 22, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28636908/schiff-base-proton-acceptor-assists-photoisomerization-of-retinal-chromophores-in-bacteriorhodopsin
#10
Chih-Chang Hung, Xiao-Ru Chen, Ying-Kuan Ko, Takayoshi Kobayashi, Chii-Shen Yang, Atsushi Yabushita
In this study, we investigated the ultrafast dynamics of bacteriorhodopsins (BRs) from Haloquadratum walsbyi (HwBR) and Haloarcula marismortui (HmBRI and HmBRII). First, the ultrafast dynamics were studied for three HwBR samples: wild-type, D93N mutation, and D104N mutation. The residues of the D93 and D104 mutants correspond to the control by the Schiff base proton acceptor and donor of the proton translocation subchannels. Measurements indicated that the negative charge from the Schiff base proton acceptor residue D93 interacts with the ultrafast and substantial change of the electrostatic potential associated with chromophore isomerization...
June 20, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28636408/pattern-visual-evoked-potential-pattern-electroretinogram-and-retinal-nerve-fiber-layer-thickness-in-patients-with-migraine-during-and-after-aura
#11
Amany Abd El-Fattah El-Shazly, Yousra Ahmed Farweez, Momen Mahmoud Hamdi, Noha Ezzat El-Sherbiny
PURPOSE: To study pattern visual evoked potential (PVEP), pattern electroretinogram (PERG), and retinal nerve fiber layer (RNFL) thickness in patients with migraine during and after aura. MATERIALS AND METHODS: We included 60 eyes of 60 patients with migraine (Group 1) and 30 healthy volunteers (30 eyes) as controls (Group 2). Group 1 was studied twice, during a visual aura (1-a) and in between attacks (1-b). All participants underwent full ophthalmological examination, PVEP, PERG, and optical coherence tomographyOCT imaging of the RNFL thickness for each patient...
June 21, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28636406/protective-effect-of-intravitreal-administration-of-exosomes-derived-from-mesenchymal-stem-cells-on-retinal-ischemia
#12
Elad Moisseiev, Johnathon D Anderson, Sharon Oltjen, Mayank Goswami, Robert J Zawadzki, Jan A Nolta, Susanna S Park
PURPOSE: Exosomes derived from human mesenchymal stem cells (hMSCs) cultured under hypoxic conditions contain proteins and growth factors that promote angiogenesis. This study investigated the effect of intravitreal administration of these exosomes on retinal ischemia using a murine model. METHODS: Oxygen-induced retinopathy (OIR) was induced by exposing one-week-old male C57BL/6J mice to 5 days of 75% hyperoxic conditioning, and returning to room air. After hyperoxic conditioning, the right eye of each mouse was injected intravitreally with 1 µl saline or exosomes derived from hMSCs and compared to control mice of the same age raised in room air without OIR injected intravitreally with saline...
June 21, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28636270/c-reactive-protein-and-progression-of-vision-loss-in-retinitis-pigmentosa
#13
Yusuke Murakami, Yasuhiro Ikeda, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Noriko Yoshida, Shoji Notomi, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh-Hei Sonoda
PURPOSE: Chronic inflammation is involved in retinitis pigmentosa (RP). We demonstrated previously that intraocular inflammatory levels, as measured by slit-lamp ophthalmoscopy or laser flare photometry, are inversely correlated with central visual function in patients with RP. Here, we investigated the relationship between serum high-sensitivity C-reactive protein (hs-CRP) and visual parameters in RP. METHODS: We studied 58 consecutive typical patients with RP <40 years old and 29 age- and gender-matched controls...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28636206/retinal-vascular-injuries-and-intravitreal-human-embryonic-stem-cell-derived-haemangioblasts
#14
Jin-Da Wang, Ying An, Jing-Shang Zhang, Xiu-Hua Wan, Wei Zhang, Robert Lanza, Shi-Jiang Lu, Jost B Jonas, Liang Xu
OBJECTIVE: To investigate whether intravitreally applied haemangioblasts (HB) derived from human embryonic stem cells (hESCs) are helpful for the repair of vascular damage caused in animals by an oxygen-induced retinopathy (OIR), by an induced diabetic retinopathy (DR) or by an induced retinal ischaemia with subsequent reperfusion. METHODS: Human embryonic stem cell-derived HBs were transplanted intravitreally into C57BL/6J mice (OIR model), into male Wistar rats with an induced DR and into male Wistar rats undergoing induced retinal ischaemia with subsequent reperfusion...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28636126/bilateral-diffuse-uveal-melanocytic-proliferation-case-report-and-literature-review
#15
REVIEW
Kristian Klemp, Jens Folke Kiilgaard, Steffen Heegaard, Tove Nørgaard, Mette Klarskov Andersen, Jan Ulrik Prause
Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular disease that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. Characteristic ocular findings include exudative retinal detachment, rapid cataract formation and uveal melanocytic tumours. The awareness and documentation of BDUMP has increased during the past decade, and the increasing amount of data collected demonstrates the effect of treatment with plasmapheresis and the value of diagnostic tools in BDUMP such as genetic and immunologic investigations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28635425/multimodal-imaging-in-cabp4-related-retinopathy
#16
Patrik Schatz, Maram E A Abdalla Elsayed, Arif O Khan
PURPOSE: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. METHODS: Retrospective case series. RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined...
March 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#17
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#18
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635102/ratiometric-analysis-of-optical-coherence-tomography-measured-in%C3%A2-vivo-retinal-layer-thicknesses-for-the-detection-of-early-diabetic-retinopathy
#19
Basanta Bhaduri, Ryan L Shelton, Ryan M Nolan, Lucas Hendren, Alexandra Almasov, Leanne T Labriola, Stephen A Boppart
Influence of diabetes mellitus (DM) and diabetic retinopathy (DR) on parafoveal retinal thicknesses and their ratios was evaluated. Six retinal layer boundaries were segmented from spectral-domain optical coherence tomography images using open-source software. Five study groups: (1) healthy control (HC) subjects, and subjects with (2) controlled DM, (3) uncontrolled DM, (4) controlled DR and (5) uncontrolled DR, were identified. The one-way analyses of variance (ANOVA) between adjacent study groups (i. e...
June 21, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28634154/improving-consensus-scoring-of-crowdsourced-data-using-the-rasch-model-development-and-refinement-of-a-diagnostic-instrument
#20
Christopher John Brady, Lucy Iluka Mudie, Xueyang Wang, Eliseo Guallar, David Steven Friedman
BACKGROUND: Diabetic retinopathy (DR) is a leading cause of vision loss in working age individuals worldwide. While screening is effective and cost effective, it remains underutilized, and novel methods are needed to increase detection of DR. This clinical validation study compared diagnostic gradings of retinal fundus photographs provided by volunteers on the Amazon Mechanical Turk (AMT) crowdsourcing marketplace with expert-provided gold-standard grading and explored whether determination of the consensus of crowdsourced classifications could be improved beyond a simple majority vote (MV) using regression methods...
June 20, 2017: Journal of Medical Internet Research
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