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https://www.readbyqxmd.com/read/28449103/novel-degenerative-and-developmental-defects-in-a-zebrafish-model-of-mucolipidosis-type-iv
#1
Huiqing Li, Wuhong Pei, Sivia Vergarajauregui, Patricia M Zerfas, Nina Raben, Shawn M Burgess, Rosa Puertollano
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study we used genome editing to knockout the two mcoln1 genes present in Dario rerio (zebrafish). Our model successfully reproduced the retinal and neuromuscular defects observed in MLIV patients, indicating that this model is suitable for studying the disease pathogenesis...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28449038/real-time-imaging-of-single-neuronal-cell-apoptosis-in-patients-with-glaucoma
#2
Maria F Cordeiro, Eduardo M Normando, M Jorge Cardoso, Serge Miodragovic, Seham Jeylani, Benjamin M Davis, Li Guo, Sebastien Ourselin, Roger A'Hern, Philip A Bloom
Retinal cell apoptosis occurs in many ocular neurodegenerative conditions including glaucoma-the major cause of irreversible blindness worldwide. Using a new imaging technique that we have called DARC (detection of apoptosing retinal cells), which until now has only been demonstrated in animal models, we assessed if annexin 5 labelled with fluorescent dye DY-776 (ANX776) could be used safely in humans to identify retinal cell apoptosis. Eight patients with glaucomatous neurodegeneration and evidence of progressive disease, and eight healthy subjects were randomly assigned to intravenous ANX776 doses of 0...
April 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28448730/retinal-manifestations-of-juvenile-dermatomyositis-case-report-of-bilateral-diffuse-chorioretinopathy-with-paracentral-acute-middle-maculopathy-and-review-of-the-literature
#3
Rene Y Choi, Russell J Swan, Aimee Hersh, Albert T Vitale
PURPOSE: To review a case of bilateral diffuse chorioretinopathy as a presenting sign of juvenile dermatomyositis (JDM) and review the literature regarding retinal manifestations associated with this disease. METHODS: Review of case record and literature regarding retinal manifestations related to juvenile dermatomyositis. RESULTS: A 13-year-old girl presented with bilateral diffuse chorioretinopathy as the presenting sign of juvenile dermatomyositis...
April 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28448727/long-term-outcomes-of-a-large-cohort-of-patients-with-eales-disease
#4
Jyotirmay Biswas, Reesha K R, Bikramjit Pal, Harshal P Gondhale, Ranju Kharel Sitaula
PURPOSE: To analyze the long-term visual outcomes of Eales' patients. METHODS: A retrospective review of Eales' patients diagnosed between 1985 and 1995 with >10 years follow-up done. RESULTS: We included 500 patients (898 eyes) with mean follow-up duration of 15.8 years (10-25 years), and 81% patients had bilateral disease. Patients using oral steroid during acute stage disease had significantly better visual outcome at the final visit [0...
April 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#5
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28448551/characterization-of-physiological-defects-in-adult-sirt6-mice
#6
Victoria Peshti, Alexey Obolensky, Liat Nahum, Yariv Kanfi, Moran Rathaus, Maytal Avraham, Simon Tinman, Fredrick W Alt, Eyal Banin, Haim Y Cohen
The NAD+-dependent SIRT6 deacetylase was shown to be a major regulator of lifespan and healthspan. Mice deficient for SIRT6 develop a premature aging phenotype and metabolic defects, and die before four weeks of age. Thus, the effect of SIRT6 deficiency in adult mice is unknown. Here we show that SIRT6-/- mice in mixed 129/SvJ/BALB/c background reach adulthood, allowing examination of SIRT6-related metabolic and developmental phenotypes in adult mice. In this mixed background, at 200 days of age, more than 80% of the female knock-out mice were alive whereas only 10% of male knock-out mice survived...
2017: PloS One
https://www.readbyqxmd.com/read/28448532/a-selected-reaction-monitoring-mass-spectrometric-assessment-of-biomarker-candidates-diagnosing-large-cell-neuroendocrine-lung-carcinoma-by-the-scaling-method-using-endogenous-references
#7
Tetsuya Fukuda, Masaharu Nomura, Yasufumi Kato, Hiromasa Tojo, Kiyonaga Fujii, Toshitaka Nagao, Yasuhiko Bando, Thomas E Fehniger, György Marko-Varga, Haruhiko Nakamura, Harubumi Kato, Toshihide Nishimura
Selected reaction monitoring mass spectrometry (SRM-MS) -based semi-quantitation was performed to assess the validity of 46 selected candidate proteins for specifically diagnosing large-cell neuroendocrine lung carcinoma (LCNEC) and differentiating it from other lung cancer subtypes. The scaling method was applied in this study using specific SRM peak areas (AUCs) derived from the endogenous reference protein that normalizes all SRM AUCs obtained for the candidate proteins. In a screening verification study, we found that seven out of the 46 candidate proteins were statistically significant for the LCNEC phenotype, including 4F2hc cell surface antigen heavy chain (4F2hc/CD98) (p-ANOVA ≤ 0...
2017: PloS One
https://www.readbyqxmd.com/read/28448294/macular-ganglion-cell-and-retinal-nerve-fiber-layer-thickness-in-children-with-refractive-errors-an-optical-coherence-tomography-study
#8
Jody P Goh, Victor Koh, Yiong Huak Chan, Cheryl Ngo
PURPOSE: To study the distribution of macular ganglion cell-inner plexiform layer (GC-IPL) thickness and peripapillary retinal nerve fiber layer (RNFL) thickness in children with refractive errors. MATERIALS AND METHODS: Two hundred forty-three healthy eyes from 139 children with refractive error ranging from -10.00 to +5.00 D were recruited from the National University Hospital Eye Surgery outpatient clinic. After a comprehensive ocular examination, refraction, and axial length (AL) measurement (IOLMaster), macular GC-IPL and RNFL thickness values were obtained with a spectral domain Cirrus high definition optical coherence tomography system (Carl Zeiss Meditec Inc...
April 26, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28448238/single-dexamethasone-intravitreal-implant-in-the-treatment-of-noninfectious-uveitis
#9
Ariane Frère, Laure Caspers, Dorine Makhoul, Lia Judice, Laurence Postelmans, Xavier Janssens, Pierre Lefebvre, Christian Mélot, François Willermain
PURPOSE: To investigate the effect of a single intravitreal dexamethasone implant (IVT-DI; Ozurdex; Allergan, Inc.) on visual acuity, macular thickness, and intraocular pressure (IOP) in active noninfectious uveitis. METHODS: Medical records of patients with noninfectious active uveitis treated by IVT-DIs were retrospectively reviewed. Uveitis etiologies, treatment indications, best corrected visual acuity (BCVA), central retinal thickness measured by ocular coherence tomography, IOP, and systemic, local, and topical treatments were collected...
May 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28447781/artemisinin-protectes-retinal-neuronal-cells-against-oxidative-stress-and-restores-rat-retinal-physiological-function-from-light-exposed-damage
#10
Fengxia Yan, Hai-Tao Wang, Yang Gao, Jiang-Ping Xu, Wenhua Zheng
Oxidative stress plays a key role in the pathogenesis of age-related macular degeneration (AMD), a leading cause of severe visual loss and blindness in the aging population which lacks any effective treatments currently. In this study, artemisinin, a well-known anti-malarial drug was found to suppress hydrogen peroxide (H2O2)-induced cell death in retinal neuronal RGC-5 cells. Artemisinin, in the therapeutically relevant dosage, concentration-dependently attenuated the accumulation of intracellular reactive oxygen species (ROS), increased mitochondrial mitochondrial membrane potential and decreased cell apoptosis in RGC-5 cells induced by H2O2...
April 27, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28447713/tetramethylpyrazine-mediated-regulation-of-cxcr4-in-retinoblastoma-is-sensitive-to-cell-density
#11
Nandan Wu, Lijun Xu, Ying Yang, Na Yu, Zhang Zhang, Pei Chen, Jing Zhang, Mingjun Tang, Meng Yuan, Jian Ge, Keming Yu, Jing Zhuang
Retinoblastoma is the most common ocular tumor in children, and it causes extensive damage. Current treatment options for retinoblastoma include surgery, chemotherapy, radiotherapy and cryotherapy. However, the majority of chemotherapy medicines cause complications and side effects that lead to severe impairment of patient health. Previous studies have reported that tetramethylpyrazine (TMP), which is an extract of the Chinese herbal medicine Chuanxiong, reduces the risk of multidrug resistance in chemotherapy and inhibits the proliferation and metastasis of various types of cancer cells...
March 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28447589/neuroretinal-evaluation-using-optical-coherence-tomography-in-patients-affected-by-pituitary-tumors
#12
Yasar Altun, Ayse Sevgi Karadag, Seyho Cem Yucetas, Sadullah Saglam, A Z A Tak, Ilhan Cag, Yusuf Ehi
AIM: To investigate the thickness of the retinal nerve fiber layer (RNFL), the ganglion cell layer (GCL), inner plexiform layer (IPL), and choroid thickness (CT) in patients with pituitary tumours, microadenoma and macroadenoma, using spectral optical coherence tomography (OCT). METHODS: Thirty six patients who had micro and macroadenoma, and 34 healthy participants (control group) were included in the study. Spectral OCT was used to measure the RNFL, GCL, IPL, and CT values for all patients...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28447287/topography-and-correlation-of-radial-peripapillary-capillary-density-network-with-retinal-nerve-fibre-layer-thickness
#13
Tarannum Mansoori, Jayanthi Sivaswamy, Jahnavi Sai Gamalapati, Nagalla Balakrishna
PURPOSE: To analyse the expansion of radial peripapillary capillary (RPC) network with optical coherence tomography angiography (OCT-A) in normal human eyes and correlate RPC density with retinal nerve fibre layer thickness (RNFLT) at various distances from the optic nerve head (ONH) edge. METHODS: Fifty eyes of 50 healthy subjects underwent imaging with RTVue XR-100 Avanti OCT. OCT-A scans of Angio disc (6 × 6 mm) and Angio retina (8 × 8 mm) were combined to create a wide-field montage image of the RPC network...
April 26, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28447270/annual-incidences-of-visual-impairment-during-10-year-period-in-mie-prefecture-japan
#14
Kengo Ikesugi, Takako Ichio, Hideyuki Tsukitome, Mineo Kondo
PURPOSE: To determine the annual incidence of visual impairment in a Japanese population during a 10-year period. METHODS: We examined the physical disability certificates issued yearly between 2004 and 2013 in Mie prefecture, Japan. During this period 2468 visually impaired people were registered under the newly defined Act on Welfare of the Physically Disabled Persons' criteria. The age, sex distribution, and causes of visual impairment were determined from the certificates...
April 26, 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28447229/pathogenic-role-and-therapeutic-potential-of-pleiotrophin-in-mouse-models-of-ocular-vascular-disease
#15
Weiwen Wang, Michelle E LeBlanc, Xiuping Chen, Ping Chen, Yanli Ji, Megan Brewer, Hong Tian, Samantha R Spring, Keith A Webster, Wei Li
Angiogenic factors play an important role in the pathogenesis of diabetic retinopathy (DR), neovascular age-related macular degeneration (nAMD) and retinopathy of prematurity (ROP). Pleiotrophin, a well-known angiogenic factor, was recently reported to be upregulated in the vitreous fluid of patients with proliferative DR (PDR). However, its pathogenic role and therapeutic potential in ocular vascular diseases have not been defined in vivo. Here using corneal pocket assays, we demonstrated that pleiotrophin induced angiogenesis in vivo...
April 26, 2017: Angiogenesis
https://www.readbyqxmd.com/read/28447201/teleophthalmology-image-based-navigated-retinal-laser-therapy-for-diabetic-macular-edema-a-concept-of-retinal-telephotocoagulation
#16
Igor Kozak, John F Payne, Patrik Schatz, Eman Al-Kahtani, Moritz Winkler
BACKGROUND: To determine the feasibility and efficacy of a retinal telephotocoagulation treatment plan for diabetic macular edema. METHODS: Prospective, interventional cohort study at two clinical sites. Sixteen eyes of ten subjects with diabetic macular edema underwent navigated focal laser photocoagulation using a novel teleretinal treatment plan. Clinic 1 (King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia) collected retinal images and fundus fluorescein angiogram...
April 26, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28446616/early-immune-responses-are-independent-of-rgc-dysfunction-in-glaucoma-with-complement-component-c3-being-protective
#17
Jeffrey M Harder, Catherine E Braine, Pete A Williams, Xianjun Zhu, Katharine H MacNicoll, Gregory L Sousa, Rebecca A Buchanan, Richard S Smith, Richard T Libby, Gareth R Howell, Simon W M John
Various immune response pathways are altered during early, predegenerative stages of glaucoma; however, whether the early immune responses occur secondarily to or independently of neuronal dysfunction is unclear. To investigate this relationship, we used the Wld(s) allele, which protects from axon dysfunction. We demonstrate that DBA/2J.Wld(s) mice develop high intraocular pressure (IOP) but are protected from retinal ganglion cell (RGC) dysfunction and neuroglial changes that otherwise occur early in DBA/2J glaucoma...
April 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28446569/differentiated-levels-of-ganciclovir-resistance-conferred-by-mutations-at-codons-591-603-of-the-cytomegalovirus-ul97-kinase-gene
#18
Sunwen Chou, Ronald J Ercolani, Adam L Vanarsdall
Diagnostic mutations in the cytomegalovirus UL97 kinase gene are used to assess the level of associated ganciclovir resistance and therapeutic options. The best-known mutations at codons 460, 520 or 591-607 individually confer 5- to 10-fold decreased ganciclovir susceptibility, except 3-fold in the case of amino acid substitution C592G. Less common point and in-frame deletion mutations at codons 591-603 remain incompletely characterized. The ganciclovir susceptibilities of 17 mutants in this codon range were evaluated by use of the same recombinant phenotyping system and extensive assay replicates in two types of cell cultures...
April 26, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28446513/frequent-hypomorphic-alleles-account-for-a-significant-fraction-of-abca4-disease-and-distinguish-it-from-age-related-macular-degeneration
#19
Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of ABCA4 identifies biallelic mutations in only 60%-70% of cases; 20%-25% remain with one mutation and no mutations are found in 10%-15% of cases with clinically confirmed ABCA4 disease...
April 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28446234/retinal-vessel-diameters-and-reactivity-in-diabetes-mellitus-and-or-cardiovascular-disease
#20
R Heitmar, G Y H Lip, R E Ryder, A D Blann
BACKGROUND: Retinal vessel calibre and vascular dilation/constriction in response to flicker light provocation may provide a measure distinguishing patients suffering from diabetes mellitus and/or cardiovascular disease. METHODS: One hundred and sixteen age and sex matched patients with diabetes mellitus (DM), cardiovascular disease (CVD) and both DM and CVD (DM + CVD) underwent systemic and intraocular pressure measurements. Retinal vessel calibres were assessed using a validated computer-based program to compute central retinal artery and vein equivalents (CRVE) from monochromatic retinal images...
April 26, 2017: Cardiovascular Diabetology
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