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https://www.readbyqxmd.com/read/28090261/fabry-disease-presenting-with-hypertrophic-cardiomyopathy-and-tricuspid-regurgitation
#1
Sang-Cheol Cho, Han-Wook Yoo, Jae Won Lee, Jeong Yoon Jang, Ran Heo, Jong-Min Song
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c...
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28089753/simultaneous-quantitation-of-sphingoid-bases-by-uplc-esi-ms-ms-with-identical-13-c-encoded-internal-standards
#2
M Mirzaian, P Wisse, M J Ferraz, A R A Marques, P Gaspar, S V Oussoren, K Kytidou, J D C Codée, G van der Marel, H S Overkleeft, J M Aerts
Free sphingoid bases (lysosphingolipids) of primary storage sphingolipids are increased in tissues and plasma of several sphingolipidoses. As shown earlier by us, sphingoid bases can be accurately quantified using UPLC-ESI-MS/MS, particularly in combination with identical (13)C-encoded internal standards. The feasibility of simultaneous quantitation of sphingoid bases in plasma specimens spiked with a mixture of such standards is here described. The sensitivity and linearity of detection is excellent for all examined sphingoid bases (sphingosine, sphinganine, hexosyl-sphingosine (glucosylsphingosine), hexosyl2-sphingosine (lactosylsphingosine), hexosyl3-sphingosine (globotriaosylsphingosine), phosphorylcholine-sphingosine) in the relevant concentration range and the measurements show very acceptable intra- and inter-assay variation (<10% average)...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28088807/posterior-versus-anterior-circulation-stroke-in-young-adults-a-comparative-study-of-stroke-aetiologies-and-risk-factors-in-stroke-among-young-fabry-patients-sifap1
#3
Bettina von Sarnowski, Ulf Schminke, Ulrike Grittner, Christian Tanislav, Tobias Böttcher, Michael G Hennerici, Turgut Tatlisumak, Jukka Putaala, Manfred Kaps, Franz Fazekas, Christian Enzinger, Arndt Rolfs, Christof Kessler
BACKGROUND: Although 20-30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. METHODS: In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18-55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI...
January 14, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28088251/lucerastat-an-iminosugar-with-potential-as-substrate-reduction-therapy-for-glycolipid-storage-disorders-safety-tolerability-and-pharmacokinetics-in-healthy-subjects
#4
N Guérard, O Morand, J Dingemanse
BACKGROUND: Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease and Fabry disease. The safety, tolerability, and pharmacokinetics of oral lucerastat were evaluated in two separate randomized, double-blind, placebo-controlled, single- and multiple-ascending dose studies (SAD and MAD, respectively) in healthy male subjects. METHODS: In the SAD study, 31 subjects received placebo or a single oral dose of 100, 300, 500, or 1000 mg lucerastat...
January 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#5
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28087010/breaking-the-ice-urine-proteomics-of-medullary-sponge-kidney-disease
#6
Somchai Chutipongtanate
Urinary proteomics is a promising tool for biomarker investigation, particularly in complex kidney diseases. Fabris and colleagues report that urinary laminin subunit alpha-2 is a potential diagnostic marker of medullary sponge kidney (MSK) disease by using a label-free quantitative proteomics platform and a clinically compatible enzyme-linked immunosorbent assay. The neglected issue of stone pathogenesis was also evidenced. This commentary discusses several considerations in biomarker validation, and how urinary proteomics breaks new ground in MSK research...
February 2017: Kidney International
https://www.readbyqxmd.com/read/28081172/influence-of-corneal-opacity-on-intraocular-pressure-assessment-in-patients-with-lysosomal-storage-diseases
#7
Joanna Wasielica-Poslednik, Giuseppe Politino, Irene Schmidtmann, Katrin Lorenz, Katharina Bell, Norbert Pfeiffer, Susanne Pitz
AIMS: To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. METHODS: 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA); central corneal thickness (CCT) and density assessed with Pentacam...
2017: PloS One
https://www.readbyqxmd.com/read/28081083/molecular-dispersion-spectroscopy-based-on-fabry-perot-quantum-cascade-lasers
#8
Lukasz A Sterczewski, Jonas Westberg, Gerard Wysocki
Two Fabry-Perot quantum cascade lasers are used in a differential dual comb configuration to perform rapidly swept dispersion spectroscopy of low-pressure nitrous oxide with <1  ms acquisition time. Active feedback control of the laser injection current enables simultaneous wavelength modulation of both lasers at kilohertz rates. The system demonstrates similar performance in both absorption and dispersion spectroscopy modes and achieves a noise-equivalent absorption figure of merit in the low 10<sup>-4</sup>/Hz range...
January 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28079663/general-anesthesia-and-fabry-disease-a-case-report
#9
Stefan Krüger, Albina Nowak, Torben Christoph Müller
Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature...
January 11, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28075357/correlations-between-endomyocardial-biopsies-and-cardiac-manifestations-in-taiwanese-patients-with-the-chinese-hotspot-ivs4-919g-a-mutation-data-from-the-fabry-outcome-survey
#10
Ting-Rong Hsu, Fu-Pang Chang, Tzu-Hung Chu, Shih-Hsien Sung, Svetlana Bizjajeva, Wen-Chung Yu, Dau-Ming Niu
We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 [60.4; 65.1] years, respectively), 13 males (54.2%) and five females (83.3%) received agalsidase alfa enzyme replacement therapy (ERT) before biopsy...
January 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28074480/clonal-reticulohistiocytosis-of-the-skin-and-bone-marrow-associated-with-systemic-mastocytosis-and-acute-myeloid-leukaemia
#11
Nicola Fusco, Arturo Bonometti, Claudia Augello, Sonia Fabris, Leonardo Boiocchi, Stefano Fiori, Denise Morotti, Nicola Fracchiolla, Emilio Berti, Umberto Gianelli
AIMS: The aims of this study were to define whether diffuse cutaneous reticulohistiocytosis could be underpinned by somatic genetic alterations and represent precursor to more aggressive forms of disease. METHODS AND RESULTS: A 59-year-old man with diffuse cutaneous reticulohistiocytosis, experienced bone marrow localisation of the disease, with associated systemic mastocytosis and acute myeloid leukaemia. Cytogenetic analyses of the bone marrow aspirate revealed the presence of a derivative chromosome giving rise to a partial trisomy of chromosome 1q and a partial monosomy of chromosome 9q...
January 11, 2017: Histopathology
https://www.readbyqxmd.com/read/28073274/quantum-dots-embedded-in-graphene-nanoribbons-by-chemical-substitution
#12
Eduard Carbonell-Sanromà, Pedro Brandimarte, Richard Balog, Martina Corso, Shigeki Kawai, Aran Garcia-Lekue, Shohei Saito, Shigehiro Yamaguchi, Ernst Meyer, Daniel Sánchez-Portal, Jose Ignacio Pascual
Bottom-up chemical reactions of selected molecular precursors on a gold surface can produce high quality graphene nanoribbons (GNRs). Here, we report on the formation of quantum dots embedded in an armchair GNR by substitutional inclusion of pairs of boron atoms into the GNR backbone. The boron inclusion is achieved through the addition of a small amount of boron substituted precursors during the formation of pristine GNRs. In the pristine region between two boron pairs, the nanoribbons show a discretization of their valence band into confined modes compatible with a Fabry-Perot resonator...
January 11, 2017: Nano Letters
https://www.readbyqxmd.com/read/28069318/right-ventricular-hypertrophy-systolic-function-and-disease-severity-in-anderson-fabry-disease-an-echocardiographic-study
#13
Francesca Graziani, Marianna Laurito, Maurizio Pieroni, Faustino Pennestrì, Gaetano Antonio Lanza, Valentina Coluccia, Antonia Camporeale, Daniela Pedicino, Elena Verrecchia, Raffaele Manna, Filippo Crea
BACKGROUND: Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies. METHODS: Detailed echocardiographic examinations were performed in 45 patients with AFD. FC, defined as maximal left ventricular wall thickness ≥ 15 mm, was present in 12...
January 6, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28059387/threshold-gain-in-aperiodic-lattice-lasers
#14
Thomas G Folland, Li Hua, Subhasish Chakraborty
Aperiodic lattices are a promising route to achieving tunable or multi-frequency lasing, but their threshold spectrum remains largely unstudied. We find that holographically designed aperiodic lattices can possess a multimode spectral response, containing both defect and band-edge photonic states. Under the influence of facet feedback the aperiodic lattice maintains remarkable spectral control at multiple frequencies over a wide bandwidth. This control arises from enhancement to the photon density of states at the designed frequencies, reducing the threshold of modes in the Fabry Perot coupled aperiodic lattice laser...
December 26, 2016: Optics Express
https://www.readbyqxmd.com/read/28059361/fabry-perot-description-for-mie-resonances-of-rectangular-dielectric-nanowire-optical-resonators
#15
Patrick E Landreman, Hamidreza Chalabi, Junghyun Park, Mark L Brongersma
We show that a dielectric nanowire (NW) with a rectangular cross section can effectively be modeled as a Fabry-Perot cavity formed by truncating a dielectric slab waveguide. By calculating the mode indices of the supported waveguide modes and the reflection phase pickup of the guided waves from the end facets, we can numerically predict the spectral locations of optical, Mie-like resonances for such NWs. This type of analysis must be performed twice in order to account for all resonances of these structures, corresponding to light propagating in the vertical or horizontal directions...
December 26, 2016: Optics Express
https://www.readbyqxmd.com/read/28059360/spectral-tuning-of-the-diameter-dependent-chirped-bragg-gratings-written-in-microfibers
#16
Peng Xiao, Tong Liu, Fu-Rong Feng, Li-Peng Sun, Hao Liang, Yang Ran, Long Jin, Bai-Ou Guan
Chirped fiber Bragg gratings can straightforwardly and efficiently be fabricated onto microfibers with a uniform phase mask. Due to the variation of the propagating constant, which depends on the fiber diameter, the broadband spectrum of the grating can be formed. Depending on the different responses to the ambient refractive index in different parts of the grating, the bandwidth of the grating can be tuned by changing the surrounding solution. In addition, by being partly immersed in a liquid, the diameter-chirped Bragg grating can act as a broadband Fabry-Perot interferometer, whose spectrum can be tuned by means of controlling the liquid level and ambient refractive index...
December 26, 2016: Optics Express
https://www.readbyqxmd.com/read/28059337/wavelet-phase-extracting-demodulation-algorithm-based-on-scale-factor-for-optical-fiber-fabry-perot-sensing
#17
Baolin Zhang, Xinglin Tong, Pan Hu, Qian Guo, Zhiyuan Zheng, Chaoran Zhou
Optical fiber Fabry-Perot (F-P) sensors have been used in various on-line monitoring of physical parameters such as acoustics, temperature and pressure. In this paper, a wavelet phase extracting demodulation algorithm for optical fiber F-P sensing is first proposed. In application of this demodulation algorithm, search range of scale factor is determined by estimated cavity length which is obtained by fast Fourier transform (FFT) algorithm. Phase information of each point on the optical interference spectrum can be directly extracted through the continuous complex wavelet transform without de-noising...
December 26, 2016: Optics Express
https://www.readbyqxmd.com/read/28059315/impact-of-resonant-dispersion-on-the-sensitivity-of-intracavity-phase-interferometry-and-laser-gyros
#18
James Hendrie, Matthias Lenzner, Hanieh Afkhamiardakani, Jean Claude Diels, Ladan Arissian
Intracavity phase interferometry is a phase sensing technique using mode-locked lasers in which two intracavity pulses circulate. The beat frequency between the two output frequency combs is proportional to a phase shift to be measured. A laser gyro is a particular implementation of this device. The demonstrated sensitivity of 10<sup>-8</sup> of these devices could be manipulated by applying a giant dispersion to each tooth of the comb. It is shown that the resonant dispersion of a Fabry-Perot inserted in the cavity couples to the modes of the frequency comb, resulting in a large change in phase response...
December 26, 2016: Optics Express
https://www.readbyqxmd.com/read/28059312/high-resolution-interference-monochromator-for-hard-x-rays
#19
Yi-Wei Tsai, Ying-Yi Chang, Yu-Hsin Wu, Kun-Yuan Lee, Shih-Lun Liu, Shih-Lin Chang
An X-ray interference-monochromator combining a Fabry-Perot resonator (FPR) and a double-crystal monochromator (DCM) is proposed and realized for obtaining single-mode X-rays with 3.45 meV energy resolution. The monochromator is based on the generation of cavity interference fringes from a FPR and single-mode selection of the transmission spectrum by a DCM of a nearly backward symmetric reflection geometry. The energy of the monochromator can be tuned within 2500 meV(= ΔE) by temperature control of the FPR and the DCM crystals in the range of ΔT = 70 K at room temperature...
December 26, 2016: Optics Express
https://www.readbyqxmd.com/read/28059213/compressive-sensing-resonator-spectroscopy
#20
Yaniv Oiknine, Isaac August, Dan G Blumberg, Adrian Stern
We present a new fast compressive spectroscopic technique based on the resonance spectrometric mechanism. This technique uses an appropriately designed Fabry-Perot resonator and a photo-sensor in order to acquire different multiplexed spectral modulations, from which the original signal is reconstructed using a compressive sensing reconstruction algorithm. We present experimental results that demonstrate the acquisition of hundreds of spectral bands with a compression ratio of about 1:13.
January 1, 2017: Optics Letters
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