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Alessio Gambetta, Marco Cassinerio, Davide Gatti, Paolo Laporta, Gianluca Galzerano
Direct optical Frequency Comb Spectroscopy (DFCS) is proving to be a fundamental tool in many areas of science and technology thanks to its unique performance in terms of ultra-broadband, high-speed detection and frequency accuracy, allowing for high-fidelity mapping of atomic and molecular energy structure. Here we present a novel DFCS approach based on a scanning Fabry-Pérot micro-cavity resonator (SMART) providing a simple, compact and accurate method to resolve the mode structure of an optical frequency comb...
October 18, 2016: Scientific Reports
Thomas Sené, Olivier Lidove, Joel Sebbah, Jean-Marc Darondel, Hervé Picard, Laurent Aaron, Olivier Fain, Thierry Zenone, Dominique Joly, Philippe Charron, Jean-Marc Ziza
The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD.Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy...
October 2016: Medicine (Baltimore)
Feifan Yu, Qianwen Liu, Xin Gan, Mingxiang Hu, Tianyi Zhang, Cheng Li, Feiyu Kang, Mauricio Terrones, Ruitao Lv
Ultrasensitive pressure sensors are constructed with few-layer MoS2 films. As-designed Fabry-Perot (F-P) sensors exhibit nearly synchronous pressure-deflection responses with a very high sensitivity (89.3 nm Pa(-1) ), which is three orders of magnitude higher than those of conventional diaphragm materials (e.g., silica, silver films). This kind of F-P sensor may open up new avenues for 2D materials in biomedical and environmental applications.
October 17, 2016: Advanced Materials
Giulia Prete, Mara Fabri, Nicoletta Foschi, Luca Tommasi
We investigated hemispheric asymmetries in categorization of face gender by means of a divided visual field paradigm, in which female and male faces were presented unilaterally for 150 ms each. A group of 60 healthy participants (30 males) and a male split-brain patient (D.D.C.) were asked to categorize the gender of the stimuli. Healthy participants categorized male faces presented in the right visual field (RVF) better and faster than when presented in the left visual field (LVF), and female faces presented in the LVF than in the RVF, independently of the participants' sex...
October 13, 2016: Neuroscience
Wei-Chieh Cheng, Jen-Hon Wang, Wen-Yi Yun, Huang-Yi Li, Jia-Ming Hu
The rapid discovery of a pharmacological chaperone toward human α-Gal A for the treatment of Fabry disease is described. Two polyhydroxylated pyrrolidines with the (3R,4S,5R) configuration pattern underwent rapid substituent diversity by conjugating the primary aminomethyl moiety of each with a variety of carboxylic acids to generate two libraries (2 × 60 members). Our bioevaluation results showed one member with the (2R,3R,4S,5R) configuration pattern and bearing a 5-cyclohexylpentanoyl group as a substituent moiety possessed sufficient chaperoning capability to rescue α-Gal A activity in the lymphocyte of the N215S Fabry patient-derived cell line and other α-Gal A mutants in COS7 cells...
October 5, 2016: European Journal of Medicinal Chemistry
Sara Bignulin, Edmondo Falleti, Sara Cmet, Dario Cappello, Annarosa Cussigh, Ilaria Lenisa, Denis Dissegna, Fabio Pugliese, Cinzia Vivarelli, Carlo Fabris, Pierluigi Toniutto
No abstract text is available yet for this article.
November 2016: Annals of Hepatology
I-Tan Lin, Jia-Ming Liu, Hsin-Cheng Tsai, Kaung-Hsiung Wu, Jheng-Yuan Syu, Ching-Yuan Su
The majority of the proposed graphene-based THz devices consist of a metamaterial that can optically interact with graphene. This coupled graphene-metamaterial system gives rise to a family of resonant modes such as the surface plasmon polariton (SPP) modes of graphene, the geometrically induced SPPs, also known as the spoof SPP modes, and the Fabry-Perot (FP) modes. In the literature, these modes are usually considered separately as if each could only exist in one structure. By contrast, in this paper, we show that even in a simple metamaterial structure such as a one-dimensional (1D) metallic slit grating, these modes all exist and can potentially interact with each other...
October 14, 2016: Scientific Reports
Diana Karpman, Peter Höglund
Orphan drugs designed to treat rare diseases are often overpriced per patient. Novel treatments are sometimes even more expensive for patients with ultra-rare diseases, in part due to the limited number of patients. Pharmaceutical companies that develop a patented life-saving drug are in a position to charge a very high price, which, at best, may enable these companies to further develop drugs for use in rare disease. However, is there a limit to how much a life-saving drug should cost annually per patient? Government interventions and regulations may opt to withhold a life-saving drug solely due to its high price and cost-effectiveness...
October 13, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Debora Lucia Seguro Danilovic, Bruno Ferraz-de-Souza, Amanda Wictky Fabri, Nathalie Oliveira Santana, Marco Aurelio Kulcsar, Claudio Roberto Cernea, Suemi Marui, Ana Oliveira Hoff
OBJECTIVE: The increasing incidence of thyroid nodules demands identification of risk factors for malignant disease. Several studies suggested the association of higher TSH levels with cancer, but influence of 25-hydroxyvitamin D (25OHD) is controversial. This study aimed to identify the relationship of thyroid cancer with higher TSH levels and hypovitaminosis D and to evaluate their influence on prognostic characteristics of papillary thyroid carcinomas (PTC). METHODS: We retrospectively evaluated 433 patients submitted to thyroidectomy for thyroid nodules...
2016: PloS One
K V Firsov, A S Kotov
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
H Trimarchi, R Canzonieri, A Schiel, C Costales-Collaguazo, J Politei, A Stern, M Paulero, T Rengel, J Andrews, M Forrester, M Lombi, V Pomeranz, R Iriarte, A Muryan, E Zotta, M D Sanchez-Niño, A Ortiz
BACKGROUND: Certain glomerulopathies are associated with increased levels of CD80 (B7-1). We measured the urinary excretion of CD80, podocyturia and proteinuria in controls and in subjects with Fabry disease either untreated or on enzyme replacement therapy (ERT). METHODS: Cross-sectional study including 65 individuals: controls (n = 20) and Fabry patients (n = 45, 23 of them not on ERT and 22 on ERT). Variables included age, gender, urinary protein/creatinine ratio (UPCR), estimated glomerular filtration rate (eGFR), urinary uCD80/creatinine ratio (uCD80) and podocyturia...
October 13, 2016: Journal of Translational Medicine
Maria Fusaro, Maurizio Gallieni, Maria Antonietta Rizzo, Andrea Stucchi, Pierre Delanaye, Etienne Cavalier, Rosa M A Moysés, Vanda Jorgetti, Giorgio Iervasi, Sandro Giannini, Fabrizio Fabris, Andrea Aghi, Stefania Sella, Francesco Galli, Valentina Viola, Mario Plebani
Vitamin K (phylloquinone or vitamin K1 and menaquinones or vitamin K2) plays an important role as a cofactor in the synthesis of hepatic blood coagulation proteins, but recently has also aroused an increasing interest for its action in extra-hepatic tissues, in particular in the regulation of bone and vascular metabolism. The accurate measurement of vitamin K status in humans is still a critical issue. Along with indirect assays, such as the undercarboxylated fractions of vitamin K-dependent proteins [prothrombin, osteocalcin (OC), and matrix gla protein], the direct analysis of blood levels of phylloquinone and menaquinones forms might be considered a more informative and direct method for assessing vitamin K status...
October 12, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
Y Ge, Y H Lin, L A Lautscham, W H Goldmann, B Fabry, C A Naumann
Fate and function of anchorage-dependent cells depend on a variety of environmental cues, including those of mechanical nature. Previous progress in the understanding of cellular mechanosensitivity has been closely linked to the availability of artificial cell substrates of adjustable viscoelasticity, allowing for a direct correlation between substrate stiffness and cell response. Exemplary, polymeric gel substrates with polymer-conjugated cell-substrate linkers provided valuable insight into the role of mechanical signals during cell migration in an extracellular matrix environment...
October 12, 2016: Soft Matter
M Batinica, A Stephan, J Steiger, I Tantcheva-Poόr, S A Eming, M Fabri
Neutrophils eject neutrophil extracellular traps (NETs), complexes of DNA and proteins [1]. As NETs contain antimicrobial proteins, they have been implicated in host defence [1, 2]. Moreover, NETs trigger inflammation [2, 3]. Reactive oxygen species (ROS)-dependent (e.g. by phorbol myristate acetate (PMA)) and ROS-independent (e.g. by calcium ionophore (CaI)) inducers of NETosis have been described [2]. This article is protected by copyright. All rights reserved.
October 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Sai Kiran C, Rupender Prasad, Sindhu Joshi
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Mona Abaoui, Michel Boutin, Pamela Lavoie, Christiane Auray-Blais
Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and resulting in the accumulation of glycosphingolipids in different tissues and biological fluids. Glycosphingolipid biomarkers, such as globotriaosylceramide (Gb3 ) isoforms, globotriaosylsphingosine (lyso-Gb3 ) and related analogs, and galabiosylceramide (Ga2 ) isoforms and analogs, are found to be abnormally increased in urine and in plasma of Fabry patients and have the potential to be used as specific biomarkers of the disease...
October 11, 2016: Current Protocols in Human Genetics
Tomoko Honda, Etsuko Komatsu, Satoshi Furuse, Naobumi Mise
No abstract text is available yet for this article.
2016: Internal Medicine
Mark W Kennedy, Enrico Fabris, Alexander J Ijsselmuiden, Holger Nef, Sebastian Reith, Javier Escaned, Fernando Alfonso, Niels van Royen, Wojtek Wojakowski, Adam Witkowski, Ciro Indolfi, Jan Paul Ottervanger, Harry Suryapranata, Elvin Kedhi
BACKGROUND: Fractional flow reserve (FFR) is a widely used tool for the identification of ischaemia-generating stenoses and to guide decisions on coronary revascularisation. However, the safety of FFR-based decisions in high-risk subsets, such as patients with Diabetes Mellitus (DM) or vulnerable stenoses presenting thin-cap fibro-atheroma (TCFA), is unknown. This study will examine the impact of optical coherence tomography (OCT) plaque morphological assessment and the identification of TCFA, in combination with FFR to better predict clinical outcomes in DM patients...
October 10, 2016: Cardiovascular Diabetology
Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana, Poli Mara Spritzer
BACKGROUND: Genetic studies to date have not provided satisfactory evidence regarding risk polymorphisms for cardiovascular disease (CVD). Conversely, epigenetic mechanisms, including DNA methylation, seem to influence the risk of CVD and related conditions. Because postmenopausal women experience an increase in CVD, we set out to determine whether global DNA methylation was associated with cardiovascular risk in this population. METHODS: In this cross sectional study carried out in a university hospital, 90 postmenopausal women without prior CVD diagnosis (55...
October 10, 2016: BMC Medical Genetics
Jalal Sadeghi, Amir Hossein Baradaran Ghasemi, Hamid Latifi
The ability to accurately measure the flow rate, concentration, and temperature in real-time in micro total analysis systems (μTAS) is crucial when improving their practical sensing capabilities within extremely small volumes. Our label-free infrared (1500-1600 nm) opto-fluidic method, presented in this study, utilizes a cantilever-based flow meter integrated with two parallel optical fiber Fabry-Perot interferometers (FPIs). The first FPI serves as an ultra-sensitive flow meter and includes a Fiber Bragg Grating (FBG) tip for localized temperature sensing...
October 5, 2016: Lab on a Chip
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