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https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#1
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28542697/incidence-of-atrophic-lesions-in-stargardt-disease-in-the-progression-of-atrophy-secondary-to-stargardt-disease-progstar-study-report-no-5
#2
Rupert W Strauss, Beatriz Muñoz, Alex Ho, Anamika Jha, Michel Michaelides, Saddek Mohand-Said, Artur V Cideciyan, David Birch, Amir H Hariri, Muneeswar G Nittala, SriniVas Sadda, Hendrik P N Scholl
Importance: Outcome measures that are sensitive to disease progression are needed as clinical end points for future treatment trials in Stargardt disease. Objective: To examine the incidence of atrophic lesions of the retinal pigment epithelium in patients with Stargardt disease as determined by fundus autofluorescence imaging. Design, Setting, and Participants: In this retrospective multicenter cohort study, 217 patients 6 years and older at baseline at tertiary referral centers in Europe, the United States, and the United Kingdom who were harboring disease-causing variants in the adenosine triphosphate (ATP)-binding cassette subfamily A member 4 (ABCA4) gene and who met the following criteria were enrolled: (1) at least 1 well-demarcated area of atrophy with a minimum diameter of 300 µm, with the total area of all atrophic lesions being less than or equal to 12 mm2 in at least 1 eye at the most recent visit, and (2) fundus autofluorescence images for at least 2 visits with a minimum of 6 months between at least 2 visits...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542206/carbonyl-based-blue-autofluorescence-of-proteins-and-amino-acids
#3
Chamani Niyangoda, Tatiana Miti, Leonid Breydo, Vladimir Uversky, Martin Muschol
Intrinsic protein fluorescence is inextricably linked to the near-UV autofluorescence of aromatic amino acids. Here we show that a novel deep-blue autofluorescence (dbAF), previously thought to emerge as a result of protein aggregation, is present at the level of monomeric proteins and even poly- and single amino acids. Just as its aggregation-related counterpart, this autofluorescence does not depend on aromatic residues, can be excited at the long wavelength edge of the UV and emits in the deep blue. Differences in dbAF excitation and emission peaks and intensities from proteins and single amino acids upon changes in solution conditions suggest dbAF's sensitivity to both the chemical identity and solution environment of amino acids...
2017: PloS One
https://www.readbyqxmd.com/read/28541266/retinochoroidal-anastomosis-associated-with-enhanced-s-cone-syndrome
#4
Jennyfer Zerbib, Rocio Blanco Garavito, Sylvie Gerber, Hassiba Oubraham, Anne Sikorav, Isabelle Audo, Josseline Kaplan, Jean-Michel Rozet, Eric H Souied
PURPOSE: To describe the phenotype and genotype of a 10-year-old boy affected with enhanced S-cone syndrome associated with neovascularization. METHODS: Fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral domain optical coherence tomography, full-field electroretinogram and NR2E3 molecular testing were performed. RESULTS: Best-corrected visual acuity was measured as 20/32, right eye and 20/20, left eye...
May 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28540652/development-of-low-cost-instrumentation-for-single-point-autofluorescence-lifetime-measurements
#5
João Lagarto, Jonathan D Hares, Christopher Dunsby, Paul M W French
Autofluorescence lifetime measurements, which can provide label-free readouts in biological tissues, contrasting e.g. different types and states of tissue matrix components and different cellular metabolites, may have significant clinical potential for diagnosis and to provide surgical guidance. However, the cost of the instrumentation typically used currently presents a barrier to wider implementation. We describe a low-cost single point time-resolved autofluorescence instrument, exploiting modulated laser diodes for excitation and FPGA-based circuitry for detection, together with a custom constant fraction discriminator...
May 25, 2017: Journal of Fluorescence
https://www.readbyqxmd.com/read/28540469/a-3d-microfluidic-perfusion-system-made-from-glass-for-multiparametric-analysis-of-stimulus-secretioncoupling-in-pancreatic-islets
#6
Torben Schulze, Kai Mattern, Eike Früh, Lars Hecht, Ingo Rustenbeck, Andreas Dietzel
Microfluidic perfusion systems (MPS) are well suited to perform multiparametric measurements with small amounts of tissue to function as an Organ on Chip device (OOC). Such microphysiolgical characterization is particularly valuable in research on the stimulus-secretion-coupling of pancreatic islets. Pancreatic islets are fully functional competent mini-organs, which serve as fuel sensors and transduce metabolic activity into rates of hormone secretion. To enable the simultaneous measurement of fluorescence and oxygen consumption we designed a microfluidic perfusion system from borosilicate glass by 3D femtosecond laser ablation...
September 2017: Biomedical Microdevices
https://www.readbyqxmd.com/read/28537714/enhanced-afterglow-performance-of-persistent-luminescence-implants-for-efficient-repeatable-photodynamic-therapy
#7
Wenpei Fan, Nan Lu, Can Xu, Yijing Liu, Jing Lin, Sheng Wang, Zheyu Shen, Zhen Yang, Junle Qu, Tianfu Wang, Siping Chen, Peng Huang, Xiaoyuan Chen
Persistent luminescence nanoparticles (PLNPs) have been used for bioimaging without autofluorescence background interference, but the poor afterglow performance impedes their further applications in cancer therapy. To overcome the Achilles' heel of PLNPs, herein we report the construction of injectable persistent luminescence implants (denoted as PL implants) as a built-in excitation source for efficient repeatable photodynamic therapy (PDT). The injectable ZGC (ZnGa1.996O4:Cr0.004) PL implants were prepared by dissolving ZGC PLNPs in poly(lactic-co-glycolic acid)/N-methylpyrrolidone oleosol, which demonstrated much stronger persistent luminescence (PersL) intensity and longer PersL lifetime than that of ZGC PLNPs both in vitro and in vivo...
May 26, 2017: ACS Nano
https://www.readbyqxmd.com/read/28534815/multispectral-fluorescent-and-photoplethysmographic-imaging-for-remote-skin-assessment
#8
REVIEW
Janis Spigulis
Optical tissue imaging has several advantages over the routine clinical imaging methods, including non-invasiveness (it does not change the structure of tissues), remote operation (it avoids infections) and the ability to quantify the tissue condition by means of specific image parameters. Dermatologists and other skin experts need compact (preferably pocket-size), self-sustaining and easy-to-use imaging devices. The operational principles and designs of ten portable in-vivo skin imaging prototypes developed at the Biophotonics Laboratory of Institute of Atomic Physics and Spectroscopy, University of Latvia during the recent five years are presented in this paper...
May 19, 2017: Sensors
https://www.readbyqxmd.com/read/28529701/recent-advances-in-the-management-of-dry-age-related-macular-degeneration-a-review
#9
REVIEW
Francesco Bandello, Riccardo Sacconi, Lea Querques, Eleonora Corbelli, Maria Vittoria Cicinelli, Giuseppe Querques
Age-related macular degeneration (AMD), the most important cause of vision loss in elderly people, is a degenerative disorder of the central retina with a multifactorial etiopathology. AMD is classified in dry AMD (d-AMD) or neovascular AMD depending on the presence of choroidal neovascularization. Currently, no therapy is approved for geographic atrophy, the late form of d-AMD, because no treatment can restore the damage of retinal pigment epithelium (RPE) or photoreceptors. For this reason, all treatment approaches in d-AMD are only likely to prevent and slow down the progression of existing atrophy...
2017: F1000Research
https://www.readbyqxmd.com/read/28528048/real-time-autofluorescence-imaging-to-diagnose-lvad-driveline-infections
#10
Jack B Keenan, Taufiek Konrad Rajab, David G Armstrong, Zain Khalpey
A 64-year-old man experienced a driveline infection that was treated with serial debridements and antibiotics. When the wound clinically appeared ready for closure, a handheld fluorescence imaging device still revealed a margin of red fluorescence around the wound edges consistent with a subclinical infection. Therefore, a wider margin was made and additional specimens for wound culture were taken, which demonstrated a vancomycin-resistant enterococcal infection. The autofluorescence signals of common bacteria can be detected with a fluorescence camera in subclinical wound infections without clinical signs...
June 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28527966/suture-dehiscence-in-the-tricuspid-annulus-an-ex%C3%A2-vivo-analysis-of-tissue-strength-and-composition
#11
Deborah M Paul, Ajay Naran, Eric L Pierce, Charles H Bloodworth, Steven F Bolling, Ajit P Yoganathan
BACKGROUND: Surgical repair of functional tricuspid regurgitation (FTR) is an increasingly common practice, but annuloplasty suture dehiscence remains a significant problem. Quantitative and mechanistic understanding of annular suture holding strength can support more effective techniques for tricuspid valve device anchoring. METHODS: Suture holding strength of ovine tricuspid annuli (n = 15) was quantified ex vivo by pullout testing at 12 positions around their circumference...
May 17, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28524926/a-980-nm-laser-activated-upconverted-persistent-probe-for-nir-to-nir-rechargeable-in-vivo-bioimaging
#12
Zhenluan Xue, Xiaolong Li, Youbin Li, Mingyang Jiang, Guozhong Ren, Hongrong Liu, Songjun Zeng, Jianhua Hao
Long-lasting persistent luminescent nanoparticles (PLNPs) with efficient near-infrared (NIR) emission have emerged as a new generation of probes for in vivo optical bioimaging owing to their advantages of zero-autofluorescence benefited from the self-sustained emission after excitation, deep penetration depth, and a high signal-to-noise ratio. However, most of the PLNPs are charged by ultraviolet (UV) or visible light, remarkably limiting their applications for in vivo long-term bioimaging. Here we demonstrate 980 nm laser activated upconversion-PLNPs (UC-PLNPs) with efficient NIR emission...
May 19, 2017: Nanoscale
https://www.readbyqxmd.com/read/28520626/multimodal-imaging-of-acute-exudative-polymorphous-vitelliform-maculopathy-with-optical-coherence-tomography-angiography-and-adaptive-optics-scanning-laser-ophthalmoscopy
#13
Dimitra Skondra, Peter L Nesper, Amani A Fawzi
PURPOSE: To report a case of acute exudative polymorphous vitelliform maculopathy including the findings of optical coherence tomography angiography and adaptive optics scanning laser ophthalmoscopy. METHODS: Findings on clinical examination, color fundus photography, spectral-domain optical coherence tomography, infrared reflectance, autofluorescence, optical coherence tomography angiography, and adaptive optics scanning laser ophthalmoscopy. RESULTS: A 54-year-old white man with no significant medical history and history of smoking presented with bilateral multiple serous and vitelliform detachments consistent with acute exudative polymorphous vitelliform maculopathy...
May 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28516277/analysis-of-cellular-autofluorescence-in-touch-samples-by-flow-cytometry-implications-for-front-end-separation-of-trace-mixture-evidence
#14
M Katherine Philpott, Cristina E Stanciu, Ye Jin Kwon, Eduardo E Bustamante, Susan A Greenspoon, Christopher J Ehrhardt
The goal of this study was to survey optical and biochemical variation in cell populations deposited onto a surface through touch or contact and identify specific features that may be used to distinguish and then sort cell populations from separate contributors in a trace biological mixture. Although we were not able to detect meaningful biochemical variation in touch samples deposited by different contributors through preliminary antibody surveys, we did observe distinct differences in red autofluorescence emissions (650-670 nm), with as much as a tenfold difference in mean fluorescence intensities observed between certain pairs of donors...
May 18, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28513254/peripapillary-sparing-in-rdh12-associated-leber-congenital-amaurosis
#15
Aakriti Garg, Winston Lee, Jesse D Sengillo, Rando Allikmets, Kartik Garg, Stephen H Tsang
BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS: Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients...
May 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28513064/autofluorescence-of-collagen-fibres-in-scar
#16
H L Zhao, C P Zhang, H Zhu, Y F Jiang, X B Fu
BACKGROUND/PURPOSE: Autofluorescence has become an important factor associated with diagnosis and treatment of many diseases. METHODS: Full thickness skin grafts and scar biopsies were obtained from five volunteers. The normal skin or scar tissue paraffin-wax sections were stained with HE and the autofluorescence of collagen fibres was viewed under fluorescence microscopy. RESULTS: In normal skin, the autofluorescence was showed in dermis, specifically in collagen fibres...
May 17, 2017: Skin Research and Technology
https://www.readbyqxmd.com/read/28511874/photothermal-and-photodynamic-activity-of-polymeric-nanoparticles-based-on-%C3%AE-tocopheryl-succinate-raft-block-copolymers-conjugated-to-ir-780
#17
Raquel Palao-Suay, Francisco M Martin-Saavedra, María Rosa Aguilar, Clara Escudero Duch, Sergio Martín-Saldaña, Francisco J Parra-Ruiz, Nathan A Rohner, Susan N Thomas, Nuria Vilaboa, Julio San Román
The aim of this work was the generation of a multifunctional nanopolymeric system that incorporates IR-780 dye, a near-infrared (NIR) imaging probe that exhibits photothermal and photodynamic properties; and a derivate of α-tocopheryl succinate (α-TOS), a mitochondria-targeted anticancer compound. IR-780 was conjugated to the hydrophilic segment of copolymer PEG-b-polyMTOS, based on poly(ethylene glycol) (PEG) and a methacrylic derivative of α-tocopheryl succinate (MTOS), to generate IR-NP, self-assembled nanoparticles (NPs) in aqueous media which exhibit a hydrophilic shell and a hydrophobic core...
May 13, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28510626/outcome-measures-for-clinical-trials-of-leber-congenital-amaurosis-caused-by-the-intronic-mutation-in-the-cep290-gene
#18
Samuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, Alejandro J Roman, Jason Charng, Monica Lu, Windy Choi, Rebecca Sheplock, Malgorzata Swider, Mychajlo S Kosyk, Sharon B Schwartz, Edwin M Stone, Gerald A Fishman
Purpose: To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. Methods: CEP290-LCA patients (ages 5-48) with the intronic mutation (c.2991+1655A>G) were studied as a retrospective observational case series using clinical methods and with full-field sensitivity testing (FST), optical coherence tomography (OCT), autofluorescence imaging (NIR-RAFI), transient pupillary light reflex (TPLR), oculomotor control and instability (OCI), a mobility course, and a questionnaire (NEI-VFQ)...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28510436/direct-observations-of-graphene-dispersed-in-solution-by-twilight-fluorescence-microscopy
#19
Yutaka Matsuno, Yu-Uya Sato, Hikaru Sato, Masahito Sano
Graphene and graphene oxide (GO) in solution were directly observed by a newly developed twilight fluorescence (TwiF) microscopy. A nanocarbon dispersion is mixed with a highly concentrated fluorescent dye solution and placed in a cell with a viewing glass at the bottom. TwiF microscopy images the nanocarbon material floating within a few hundred m of the glass surface by utilizing two optical processes to provide a faintly illuminating backlight and visualizes GO as either a dark image by absorption and energy transfer processes or a bright image by alternation of fluorophore chemistry and autofluorescence...
May 16, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28506260/atypical-retinal-pigment-epithelial-defects-with-retained-photoreceptor-layers-a-so-far-disregarded-finding-in-age-related-macular-degeneration
#20
Helena Giannakaki-Zimmermann, Giuseppe Querques, Inger Christine Munch, Daraius Shroff, David Sarraf, Xuejing Chen, Eduardo Cunha-Souza, Sarah Mrejen, Vittorio Capuano, Murilo W Rodrigues, Charu Gupta, Andreas Ebneter, Martin S Zinkernagel, Marion R Munk
BACKGROUND: To report patients with age-related macular degeneration and atypical central retinal pigment epithelium (RPE) defects not attributable to geographic atrophy (GA) or RPE-tears with overlying preserved photoreceptor layers. METHODS: Multimodal imaging case-series evaluating the course of atypical RPE- defects in patients with AMD using Color fundus images, Optical coherence tomography (OCT), OCT-Angiography, fundus autofluorescence (FAF) and fluorescein-angiography (FA)...
May 15, 2017: BMC Ophthalmology
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