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https://www.readbyqxmd.com/read/28936893/severe-hypertrophic-cardiomyopathy-in-a-patient-with-atypical-anderson-fabry-disease
#1
Daniele Masarone, Giovanni Duro, Santo Dellegrottaglie, Paolo Colomba, Marta Rubino, Annapaola Cirillo, Antonio Pisani, Martina Caiazza, Perry Mark Elliott, Paolo Calabrò, Giuseppe Pacileo, Giuseppe Limongelli
AIM: Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death. Case example: A case of AFD with exclusive cardiac involvement is described. During follow-up, due to the high risk of life-threatening arrhythmic events, implantation of an implantable cardioverter defibrillator is performed...
September 22, 2017: Future Cardiology
https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#2
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#3
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933309/cigarette-smoking-is-associated-with-decreased-bone-gla-protein-bgp-levels-in-hemodialysis-patients
#4
Maria Fusaro, Maurizio Gallieni, Andrea Aghi, Giorgio Iervasi, Maria Antonietta Rizzo, Andrea Stucchi, Marianna Noale, Giovanni Tripepi, Thomas Nickolas, Nicola Veronese, Fabrizio Fabris, Sandro Giannini, Lorenzo Calò, Antonio Piccoli, Maria Cristina Mereu, Laura Cosmai, Alberto Ferraro, Fiorenza Magonara, Michela Spinello, Stefania Sella, Mario Plebani
BACKGROUND: Bone gamma-carboxyglutamic acid (Gla)-protein (BGP or osteocalcin) is a vitamin K-dependent protein involved in the regulation of bone mineralization. Smoking is a risk factor for osteoporosis. METHODS: We carried out a secondary analysis of the vitamin K Italian (VIKI) study to investigate the association between cigarette smoking and BGP levels in patients with end stage renal disease. Data were collected in 370 haemodialysis patients, 37% (136) smokers (or ex-smokers) and 63% (234) non-smokers...
September 19, 2017: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/28932471/a-long-symmetric-n%C3%A2-h%C3%A2-n-hydrogen-bond-in-bis-4-amino-pyridinium-1-azide-1-redetermination-from-the-original-data
#5
Jan Fábry
The structure of the title mol-ecular salt, C10H13N4(+)·N3(-), has been redetermined from the data published by Qian & Huang [Acta Cryst. (2010), E66, o3086; refcode WACMIY (Groom et al., 2016)]. The improvement of the present redetermination consists in a correction of the site-occupancy parameter of the bridging H atom between the pyridine rings, as well as of its position. The present study has shown that the bridging H atom (site symmetry 2) is involved in a symmetric N⋯H⋯N hydrogen bond, which is one of the longest ever observed [N⋯N = 2...
September 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28932433/crystal-structure-of-2-tert-butyl-2-3-di-hydro-1h-benzo-c-pyrrol-1-one
#6
Joel Donkeng Dazie, Jiří Ludvík, Jan Fábry, Václav Eigner
The asymmetric unit of the title compound, C12H15NO, comprises two sym-metry-independent mol-ecules which differ mainly in the conformations of the tert-butyl groups. The mol-ecules contain an essentially planar five-membered 3-pyrroline ring incorporating a carbonyl substituent (pyrrolinone) which forms part of an isoindolinone skeleton. The planarity of the pyrrole ring is compared to other structures with isoindolinone. There are only weak intra- and inter-molecular C-H⋯O and C-H⋯π-electron-ring inter-actions in the crystal structure...
July 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28921867/polymer-cancerostatics-targeted-with-an-antibody-fragment-bound-via-a-coiled-coil-motif-in-vivo-therapeutic-efficacy-against-murine-bcl1-leukemia
#7
Michal Pechar, Robert Pola, Olga Janoušková, Irena Sieglová, Vlastimil Král, Milan Fábry, Barbora Tomalová, Marek Kovář
A BCL1 leukemia-cell-targeted polymer-drug conjugate with a narrow molecular weight distribution consisting of an N-(2-hydroxypropyl)methacrylamide copolymer carrier and the anticancer drug pirarubicin is prepared by controlled radical copolymerization followed by metal-free click chemistry. A targeting recombinant single chain antibody fragment (scFv) derived from a B1 monoclonal antibody is attached noncovalently to the polymer carrier via a coiled coil interaction between two complementary peptides. Two pairs of coiled coil forming peptides (abbreviated KEK/EKE and KSK/ESE) are used as linkers between the polymer-pirarubicin conjugate and the targeting protein...
September 15, 2017: Macromolecular Bioscience
https://www.readbyqxmd.com/read/28920963/tuning-a-circular-p-n-junction-in-graphene-from-quantum-confinement-to-optical-guiding
#8
Yuhang Jiang, Jinhai Mao, Dean Moldovan, Massoud Ramezani Masir, Guohong Li, Kenji Watanabe, Takashi Taniguchi, Francois M Peeters, Eva Y Andrei
The photon-like propagation of the Dirac electrons in graphene, together with its record-high electronic mobility, can lead to applications based on ultrafast electronic response and low dissipation. However, the chiral nature of the charge carriers that is responsible for the high mobility also makes it difficult to control their motion and prevents electronic switching. Here, we show how to manipulate the charge carriers by using a circular p-n junction whose size can be continuously tuned from the nanometre to the micrometre scale...
September 18, 2017: Nature Nanotechnology
https://www.readbyqxmd.com/read/28918065/the-role-of-epigenetics-in-lysosomal-storage-disorders-uncharted-territory
#9
REVIEW
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood...
August 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28915871/virtual-patients-in-the-acquisition-of-clinical-reasoning-skills-does-presentation-mode-matter-a-quasi-randomized-controlled-trial
#10
Fabian Schubach, Matthias Goos, Götz Fabry, Werner Vach, Martin Boeker
BACKGROUND: The objective of this study is to compare two different instructional methods in the curricular use of computerized virtual patients in undergraduate medical education. We aim to investigate whether using many short and focused cases - the key feature principle - is more effective for the learning of clinical reasoning skills than using few long and systematic cases. METHODS: We conducted a quasi-randomized, non-blinded, controlled parallel-group intervention trial in a large medical school in Southwestern Germany...
September 15, 2017: BMC Medical Education
https://www.readbyqxmd.com/read/28914901/interaction-of-surface-plasmon-polaritons-and-acoustic-waves-inside-an-acoustic-cavity
#11
Nikolai Khokhlov, Grigoriy Knyazev, Boris Glavin, Yakov Shtykov, Oleg Romanov, Vladimir Belotelov
In this Letter, we introduce an approach for manipulation of active plasmon polaritons via acoustic waves at sub-terahertz frequency range. The acoustic structures considered are designed as phononic Fabry-Perot microresonators where mirrors are presented with an acoustic superlattice and the structure's surface, and a plasmonic grating is placed on top of the acoustic cavity so formed. It provides phonon localization in the vicinity of the plasmonic grating at frequencies within the phononic stop band enhancing phonon-light interaction...
September 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28914897/dual-frequency-doppler-lidar-for-wind-detection-with-a-superconducting-nanowire-single-photon-detector
#12
Mingjia Shangguan, Haiyun Xia, Chong Wang, Jiawei Qiu, Shengfu Lin, Xiankang Dou, Qiang Zhang, Jian-Wei Pan
A dual-frequency direct detection Doppler lidar is demonstrated using a superconducting nanowire single-photon detector (SNSPD) at 1.5 μm. The so-called double-edge technique is implemented by using a dual-frequency laser pulse, rather than using a double-channel Fabry-Perot interferometer. Such a modification to the reported lidars enhances the frequency stability in the system level. Using the time-division multiplexing method, only one piece of SNSPD is used in the optical receiver, making the system simplified and robust...
September 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28913627/everolimus-eluting-bioresorbable-vascular-scaffold-in-daily-clinical-practice-a%C3%A2-single-centre-experience
#13
W S Remkes, R S Hermanides, M W Kennedy, E Fabris, E Kaplan, J P Ottervanger, A W J van 't Hof, E Kedhi
BACKGROUND: Recent evidence has raised concerns regarding the safety of the everolimus-eluting bioresorbable vascular scaffold (E-BVS) (Absorb, Abbott Vascular, Santa Clara, CA, USA). Following these data, the use of this device has diminished in the Netherlands; however, daily practice data are limited. Therefore we studied the incidence of safety and efficacy outcomes with this device in daily clinical practice in a single large tertiary centre in the Netherlands. METHODS: All E‑BVS treated patients were included in this analysis...
September 14, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28904400/enhanced-bandwidth-of-high-directive-emission-fabry-perot-resonator-antenna-with-tapered-near-zero-effective-index-using-metasurface
#14
Zhen-Guo Liu, Wei-Bing Lu, Wu Yang
In this paper, a novel explanation on high directive emission of Fabry-Perot resonator antenna with subwavelength metasurface is proposed. Based on image theory and effective constitutive parameter retrieval, the whole Fabry-Perot resonant cavity structure composed of a single-layer metasurface with square ring element and a PEC ground plate can be acted as an effective metamaterial media with very low refractive index (near zero index). According to Snell's theory, this property can be used to enhance the directive emission...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28902648/-fabry-disease-an-overlooked-diagnosis-in-adult-cardiac-patients
#15
Meral Kayıkçıoğlu, Evrim Şimşek, Sema Kalkan Uçar, Selen Bayraktaroğlu, Hüseyin Onay, Eser Sözmen, Mahmut Çoker
Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Cardiac involvement can include left ventricular hypertrophy, conduction abnormalities, arrhythmias, valvular abnormalities, and heart failure...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28900221/lasing-by-driven-atoms-cavity-system-in-collective-strong-coupling-regime
#16
Rahul Sawant, S A Rangwala
The interaction of laser cooled atoms with resonant light is determined by the natural linewidth of the excited state. An optical cavity is another optically resonant system where the loss from the cavity determines the resonant optical response of the system. The near resonant combination of an optical Fabry-Pérot cavity with laser cooled and trapped atoms couples two distinct optical resonators via light and has great potential for precision measurements and the creation of versatile quantum optics systems...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28892806/a-novel-missense-gla-mutation-p-g35v-detected-in-hemodialysis-screening-leads-to-severe-systemic-manifestations-of-fabry-disease-in-men-and-women
#17
Valeria Soares Pigozzi Veloso, Thiago Lacerda Ataides, Maria Eugênia Fernandes Canziani, Mariana Pigozzi Veloso, Nilzio Antônio da Silva, Daniela Veit Barreto, Edna Regina Silva Pereira, Luiz Antonio Ribeiro de Moura, Fellype Carvalho Barreto
BACKGROUND/AIMS: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. METHODS: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity...
September 12, 2017: Nephron
https://www.readbyqxmd.com/read/28886650/a-general-variational-approach-for-computing-rovibrational-resonances-of-polyatomic-molecules-application-to-the-weakly-bound-h2he-and-h2%C3%A2-co-systems
#18
Dóra Papp, Tamás Szidarovszky, Attila G Császár
The quasi-variational quantum chemical protocol and code GENIUSH [E. Mátyus et al., J. Chem. Phys. 130, 134112 (2009) and C. Fábri et al., J. Chem. Phys. 134, 074105 (2011)] has been augmented with the complex absorbing potential (CAP) technique, yielding a method for the determination of rovibrational resonance states. Due to the effective implementation of the CAP technique within GENIUSH, the GENIUSH-CAP code is a powerful tool for the study of important dynamical features of arbitrary-sized molecular systems with arbitrary composition above their first dissociation limit...
September 7, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28880170/rapid-spatial-mapping-of-focused-ultrasound-fields-using-a-planar-fabry-p%C3%A3-rot-sensor
#19
Eleanor Martin, Edward Z Zhang, James A Guggenheim, Paul C Beard, Bradley E Treeby
Measurement of high acoustic pressures is necessary in order to fully characterise clinical high-intensity focused ultrasound (HIFU) fields, and for accurate validation of computational models of ultrasound propagation. However, many existing measurement devices are unable to withstand the extreme pressures generated in these fields, and those that can often exhibit low sensitivity. Here, a planar Fabry-Pérot interferometer with hard dielectric mirrors and spacer was designed, fabricated, and characterised and its suitability for measurement of nonlinear focused ultrasound fields was investigated...
September 4, 2017: IEEE Transactions on Ultrasonics, Ferroelectrics, and Frequency Control
https://www.readbyqxmd.com/read/28878407/simultaneous-measurement-of-transverse-load-and-temperature-using-hybrid-structured-fiber-optic-fabry-perot-interferometer
#20
Yongfeng Wu, Yundong Zhang, Jing Wu, Ping Yuan
We experimentally demonstrated a novel fiber-optic hybrid structured Fabry-Perot interferometer with special air-cavity for simultaneous measurement of transverse load and temperature. By the linear phase finite impulse response filters, the transverse load sensitivities of the air-cavity and the silica-cavity are 1272.71 pm/N and -53.07 pm/N, respectively, and temperature sensitivities of the air-cavity and silica-cavity are 1.1 pm/°C and 14 pm/°C. Thus, the different sensitivities of silica-cavity and air-cavity to transverse load and temperature indicate that such a structure can be used to simultaneously measure transverse load and temperature...
September 6, 2017: Scientific Reports
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