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https://www.readbyqxmd.com/read/27931614/gla-ring-opportunities-and-challenges-for-fabry-disease
#1
EDITORIAL
Daniel P Judge, Ike S Okwuosa, Albert A Hagège
No abstract text is available yet for this article.
December 13, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27931613/later-onset-fabry-disease-cardiac-damage-progress-in-silence-experience-with-a-highly-prevalent-mutation
#2
Ting-Rong Hsu, Sheng-Che Hung, Fu-Pang Chang, Wen-Chung Yu, Shih-Hsien Sung, Chia-Lin Hsu, Ivan Dzhagalov, Chia-Feng Yang, Tzu-Hung Chu, Han-Jui Lee, Yung-Hsiu Lu, Sheng-Kai Chang, Hsuan-Chieh Liao, Hsiang-Yu Lin, Tsan-Chieh Liao, Pi-Chang Lee, Hsing-Yuan Li, An-Hang Yang, Hui-Chen Ho, Chuan-Chi Chiang, Ching-Yuang Lin, Robert J Desnick, Dau-Ming Niu
BACKGROUND: Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. OBJECTIVES: The study analyzed a large-scale newborn screening program for FD to understand the natural course of later onset FD...
December 13, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27927773/hematopoietic-stem-cell-apheresis-procedure-in-a-context-of-related-allogeneic-transplant-for-acute-myeloid-leukemia-unexpected-outcome-medical-emergency-and-ethical-issue
#3
Marc Bourgeois, Anne Sonet, Francoise Botson, Carlos Graux, Annick Fabry, Marc André, Véronique Deneys
No abstract text is available yet for this article.
December 7, 2016: Haematologica
https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#4
William G Mantyh, P James B Dyck, Peter J Dyck, Janean K Engelstad, William J Litchy, Paola Sandroni, Mark D P Davis
Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD)...
December 7, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27918108/toward-tunable-photonic-nanosheet-sensors-strong-influence-of-the-interlayer-cation-on-the-sensing-characteristics
#5
Pirmin Ganter, Leslie M Schoop, Bettina V Lotsch
An approach toward intercalant tunable nanosheet-based Fabry-Pérot sensors is presented. The intercalant tetrabutylammonium significantly increases the sensitivity of the photonic nose sensor to volatile organic compounds with increasing polarity, enabling polarity-driven color-coded vapor differentiation. Paired with the improved millisecond response times for polar vapors, vapor imaging with spatio-temporal resolution is within reach.
December 5, 2016: Advanced Materials
https://www.readbyqxmd.com/read/27917039/echinoids-of-the-kerguelen-plateau-occurrence-data-and-environmental-setting-for-past-present-and-future-species-distribution-modelling
#6
Charlène Guillaumot, Alexis Martin, Salomé Fabri-Ruiz, Marc Eléaume, Thomas Saucède
The present dataset provides a case study for species distribution modelling (SDM) and for model testing in a poorly documented marine region. The dataset includes spatially-explicit data for echinoid (Echinodermata: Echinoidea) distribution. Echinoids were collected during oceanographic campaigns led around the Kerguelen Plateau (+63°/+81°E; -46°/-56°S) since 1872. In addition to the identification of collection specimens from historical cruises, original data from the recent campaigns POKER II (2010) and PROTEKER 2 to 4 (2013-2015) are also provided...
2016: ZooKeys
https://www.readbyqxmd.com/read/27916943/the-large-phenotypic-spectrum-of-fabry-disease-requires-graduated-diagnosis-and-personalized-therapy-a-meta-analysis-can-help-to-differentiate-missense-mutations
#7
Valentina Citro, Marco Cammisa, Ludovica Liguori, Chiara Cimmaruta, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti
Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable than the wild type protein. These mutants can be stabilized by small molecules which are defined as pharmacological chaperones. The first chaperone to reach clinical trial is 1-deoxygalactonojirimycin, but others have been tested in vitro...
December 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27914711/proteomic-based-research-strategy-identified-laminin-subunit-alpha-2-as-a-potential-urinary-specific-biomarker-for-the-medullary-sponge-kidney-disease
#8
Antonia Fabris, Maurizio Bruschi, Laura Santucci, Giovanni Candiano, Simona Granata, Alessandra Dalla Gassa, Nadia Antonucci, Andrea Petretto, Gian Marco Ghiggeri, Giovanni Gambaro, Antonio Lupo, Gianluigi Zaza
Medullary sponge kidney (MSK) disease, a rare kidney malformation featuring recurrent renal stones and nephrocalcinosis, continues to be diagnosed using expensive and time-consuming clinical/instrumental tests (mainly urography). Currently, no molecular diagnostic biomarkers are available. To identify such we employed a proteomic-based research strategy utilizing urine from 22 patients with MSK and 22 patients affected by idiopathic calcium nephrolithiasis (ICN) as controls. Notably, two patients with ICN presented cysts...
November 30, 2016: Kidney International
https://www.readbyqxmd.com/read/27912900/diagnosis-and-treatment-of-fabry-disease
#9
Alberto Ortiz, Maria Dolores Sanchez-Niño
No abstract text is available yet for this article.
November 29, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27910918/crescent-shaped-fabry-perot-fiber-cavity-for-ultra-sensitive-strain-measurement
#10
Ye Liu, D N Wang, W P Chen
Optical Fabry-Perot interferometer sensors based on inner air-cavity is featured with compact size, good robustness and high strain sensitivity, especially when an ultra-thin air-cavity is adopted. The typical shape of Fabry-Perot inner air-cavity with reflection mode of operation is elliptic, with minor axis along with and major axis perpendicular to the fiber length. The first reflection surface is diverging whereas the second one is converging. To increase the visibility of the output interference pattern, the length of major axis should be large for a given cavity length...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27910824/accelerated-high-resolution-photoacoustic-tomography-via-compressed-sensing
#11
Simon Arridge, Paul Beard, Marta Betcke, Ben Cox, Nam Huynh, Felix Lucka, Olumide Ogunlade, Edward Zhang
Current 3D photoacoustic tomography (PAT) systems offer either high image quality or high frame rates but are not able to deliver high spatial and temporal resolution simultaneously, which limits their ability to image dynamic processes in living tissue (4D PAT). A particular example is the planar Fabry-Pérot (FP) photoacoustic scanner, which yields high-resolution 3D images but takes several minutes to sequentially map the incident photoacoustic field on the 2D sensor plane, point-by-point. However, as the spatio-temporal complexity of many absorbing tissue structures is rather low, the data recorded in such a conventional, regularly sampled fashion is often highly redundant...
December 21, 2016: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/27910676/in-situ-wavelength-calibration-of-the-edge-cxs-spectrometers-on-jet
#12
E Delabie, N Hawkes, T M Biewer, M G O'Mullane
A method for obtaining an accurate wavelength calibration over the entire focal plane of the JET edge CXS spectrometers is presented that uses a combination of the fringe pattern created with a Fabry-Pérot etalon and a neon lamp for cross calibration. The accuracy achieved is 0.03 Å, which is the same range of uncertainty as when neglecting population effects on the rest wavelength of the CX line. For the edge CXS diagnostic, this corresponds to a flow velocity of 4.5 km/s in the toroidal direction or 1.9 km/s in the poloidal direction...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27910644/development-of-plasma-bolometers-using-fiber-optic-temperature-sensors
#13
M L Reinke, M Han, G Liu, G G van Eden, R Evenblij, M Haverdings, B C Stratton
Measurements of radiated power in magnetically confined plasmas are important for exhaust studies in present experiments and expected to be a critical diagnostic for future fusion reactors. Resistive bolometer sensors have long been utilized in tokamaks and helical devices but suffer from electromagnetic interference (EMI). Results are shown from initial testing of a new bolometer concept based on fiber-optic temperature sensor technology. A small, 80 μm diameter, 200 μm long silicon pillar attached to the end of a single mode fiber-optic cable acts as a Fabry-Pérot cavity when broadband light, λo ∼ 1550 nm, is transmitted along the fiber...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27910359/absolute-wavelength-calibration-of-a-doppler-spectrometer-with-a-custom-fabry-perot-optical-system
#14
M M Baltzer, D Craig, D J Den Hartog, T Nishizawa, M D Nornberg
An Ion Doppler Spectrometer (IDS) is used for fast measurements of C VI line emission (343.4 nm) in the Madison Symmetric Torus. Absolutely calibrated flow measurements are difficult because the IDS records data within 0.25 nm of the line. Commercial calibration lamps do not produce lines in this narrow range. A light source using an ultraviolet LED and etalon was designed to provide a fiducial marker 0.08 nm wide. The light is coupled into the IDS at f/4, and a holographic diffuser increases homogeneity of the final image...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27910304/highly-compact-fiber-fabry-perot-interferometer-a-new-instrument-design
#15
B K Nowakowski, D T Smith, S T Smith
This paper presents the design, construction, and characterization of a new optical-fiber-based, low-finesse Fabry-Perot interferometer with a simple cavity formed by two reflecting surfaces (the end of a cleaved optical fiber and a plane, reflecting counter-surface), for the continuous measurement of displacements of several nanometers to several tens of millimeters. No beam collimation or focusing optics are required, resulting in a displacement sensor that is extremely compact (optical fiber diameter 125 μm), is surprisingly tolerant of misalignment (more than 5°), and can be used over a very wide range of temperatures and environmental conditions, including ultra-high-vacuum...
November 2016: Review of Scientific Instruments
https://www.readbyqxmd.com/read/27909515/myocardial-biopsy-in-idiopathic%C3%A2-atrial-fibrillation-and-other-arrhythmias-nosological-diagnosis-clinical-and-morphological-parallels-and-treatment
#16
O V Blagova, A V Nedostup, E A Kogan, V A Sulimov, S A Abugov, A G Kupriyanova, V A Zaydenov, A E Donnikov, E V Zaklyazminskaya, E A Okisheva
BACKGROUND: The nosological nature of "idiopathic" arrhythmias and the effect of etiotropic and pathogenetic treatment are often unknown. METHODS AND RESULTS: 19 patients (42.6±11.3 years, 9 women) with atrial fibrillation (n = 16), supraventricular (n = 10) and ventricular (n = 4) premature beats, supraventricular (n = 2) and ventricular tachycardia (n = 1), left bundle branch block (n= 2), AV block (n = 2) without structural heart changes. Viruses were identified (polymerase chain reaction, PCR) along with measurement of anti-heart antibodies (AHA) and endomyocardial biopsy (EMB)...
June 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27906847/cranioplasty-with-poly-methyl-methacrylate-resin
#17
Xiomara Mónica Johanna Palacio Muñoz, João Paulo Bonardi, Leonardo de Freitas Silva, Erik Neiva Ribeiro de Carvalho Reis, Willian Ricardo Pires, André Luis da Silva Fabris, Francisley Ávila Souza, Idelmo Rangel Garcia Júnior
No abstract text is available yet for this article.
November 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27906369/power-coupling-between-gain-guided-index-antiguided-planar-waveguides
#18
Chih-Hsien Lai, Chang-I Hsieh
Power coupling between two gain-guided index-antiguided (GGIAG) planar waveguides is numerically investigated. The strength of coupling is found to vary periodically with the gap between the two waveguide cores, owing to the Fabry-Perot-like behavior of the gap. Moreover, the coupling length at which one waveguide has the minimum power and the coupling length at which another waveguide obtains the maximum power are different. Further investigation reveals that such a difference is attributed to the gain provided in the low-index cores...
November 28, 2016: Optics Express
https://www.readbyqxmd.com/read/27906355/control-of-the-two-photon-fluorescence-of-quantum-dots-coupled-to-silver-nanowires
#19
Weijie Mai, Xiaokang Song, Ping Jiang, Wenzhong Wang, Li Yu, Jiasen Zhang
Plasmon-based fluorescence modulation has led to important advances in various fields and has paved the way toward promising scientific research aimed at enabling new applications. However, the modulation of fluorescence properties based on both localized surface plasmon (LSP) and cavity modes of propagating surface plasmon polaritons (SPPs) are rarely reported. Here, we raster scanned a hybrid nanowire (HNW) with quantum dots (QDs) adsorbed onto a Ag nanowire (NW) and obtained two-photon fluorescence (TPF) maps of the intensity and decay rate...
November 28, 2016: Optics Express
https://www.readbyqxmd.com/read/27906344/giant-circular-dichroism-and-its-reversal-in-solid-and-inverse-plasmonic-gammadion-shaped-structures
#20
Shan Wu, Pingping Qu, Jianqiang Liu, Dandan Lei, Kaiyin Zhang, Shutao Zhao, Yongyuan Zhu
Chiral plasmonic structures have been shown to possess large circular dichroism (CD) responses. Here, we investigate the CD responses in a solid and inverse metallic structure composed of a stacked right-twisted gammadion metallic nanoparticle and a left-twisted gammadion nanoaperture array, where a giant circular dichroism is achieved. In addition, the sign of the CD responses can be reversed through the changes of the geometric parameters. Further analysis reveals that the Fabry-Perot (F-P) resonance of cross-polarization conversion of electric field governs the change of the CD...
November 28, 2016: Optics Express
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