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https://www.readbyqxmd.com/read/29792392/hemizygous-fabry-disease-associated-with-membranous-nephropathy-a-rare-case-report
#1
Wenyan Zhou, Zhaohui Ni, Minfang Zhang
BACKGROUND: Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with membranous nephropathy (MN). CASE PRESENTATION: A 30-year-old man with nephrotic proteinuria, normal renal function, and no other extrarenal manifestations underwent a renal biopsy in February 2017. Light microscopy and immunofluorescence indicated MN (stage 1)...
May 24, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29791798/non-natural-linker-configuration-in-2-6-dipeptidyl-anthraquinones-enhances-the-inhibition-of-tar-rna-binding-annealing-activities-by-hiv-1-nc-and-tat-proteins
#2
Alice Sosic, Irene Saccone, Caterina Carraro, Thomas Kenderdine, Elia Gamba, Giuseppe Caliendo, Angela Corvino, Ferdinando Fiorino, Paola DiVaio, Elisa Magli, Elisa Perissutti, Vincenzo Santagada, Beatrice Severino, Valentina Spada, Daniele Fabris, Francesco Frecentese, Barbara Gatto
The HIV-1 nucleocapsid (NC) protein represents an excellent molecular target for the development of antiretrovirals by virtue of its well-characterized chaperone activities, which play pivotal roles in essential steps of the viral life cycle. Our ongoing search for candidates able to impair NC binding/annealing activities led to the identification of peptidyl-anthraquinones as a promising class of nucleic acid ligands. Seeking to elucidate the inhibition determinants and increase the potency of this class of compounds, we have now explored the effects of chirality in the linker connecting the planar nucleus to the basic side chains...
May 23, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29791395/fiber-optic-fabry-perot-pressure-sensor-based-on-low-temperature-co-fired-ceramic-technology-for-high-temperature-applications
#3
Jia Liu, Pinggang Jia, Huixin Zhang, Xiaodan Tian, Hao Liang, Yingping Hong, Ting Liang, Wenyi Liu, Jijun Xiong
In this study, a novel batch-producible fiber-optic Fabry-Perot (FP) pressure sensor based on a low-temperature co-fired ceramic technology is proposed and experimentally demonstrated for high-temperature applications. The sensor is fabricated by inserting a well-cut single-mode fiber (SMF) into a zirconia fiber ferrule, followed by insertion of the overall structure into an alumina sensor head. The FP cavity in the sensor is formed by placing the end face of the SMF in parallel to the diaphragm. The external pressure can be detected by demodulating the FP cavity length of the sensor...
May 20, 2018: Applied Optics
https://www.readbyqxmd.com/read/29785937/the-effect-of-enzyme-replacement-therapy-on-clinical-outcomes-in-paediatric-patients-with-fabry-disease-a-systematic-literature-review-by-a-european-panel-of-experts
#4
REVIEW
Marco Spada, Ralf Baron, Perry M Elliott, Bruno Falissard, Max J Hilz, Lorenzo Monserrat, Camilla Tøndel, Anna Tylki-Szymańska, Christoph Wanner, Dominique P Germain
BACKGROUND: Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human α-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. This paper presents the findings of a systematic literature review of clinical outcomes with ERT in paediatric patients with Fabry disease...
April 26, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29784929/on-wafer-fabrication-of-cavity-mirrors-for-ingan-based-laser-diode-grown-on-si
#5
Junlei He, Meixin Feng, Yaozong Zhong, Jin Wang, Rui Zhou, Hongwei Gao, Yu Zhou, Qian Sun, Jianxun Liu, Yingnan Huang, Shuming Zhang, Huaibing Wang, Masao Ikeda, Hui Yang
Direct bandgap III-V semiconductor lasers grown on silicon (Si) are highly desired for monolithic integration with Si photonics. Fabrication of semiconductor lasers with a Fabry-Pérot cavity usually includes facet cleavage, however, that is not compatible with on-chip photonic integration. Etching as an alternative approach holds a great advantage in preparing cavity mirrors with no need of breaking wafer into bars. However, gallium nitride (GaN) sidewalls prepared by dry etching often have a large roughness and etching damages, which would cause mirror loss due to optical scattering and carrier injection loss because of surface non-radiative recombination...
May 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29784492/electrocardiogram-and-imaging-an-integrated-approach-to-arrhythmogenic-cardiomyopathies
#6
REVIEW
Ketty Savino, Giuseppe Bagliani, Federico Crusco, Margherita Padeletti, Massimo Lombardi
Cardiovascular imaging has radically changed the management of patients with arrhythmogenic cardiomyopathies. This article focuses on the role of echocardiography and MRI in the diagnosis of these structural diseases. Cardiomyopathies with hypertrophic pattern (hypertrophic cardiomyopathy, restrictive cardiomyopathies, amyloidosis, Anderson-Fabry disease, and sarcoidosis), cardiomyopathies with dilated pattern, inflammatory cardiac diseases, and right ventricular arrhythmogenic cardiomyopathy are analyzed. Finally, anatomic predictors of arrhythmias and sudden cardiac death are discussed...
June 2018: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29778854/proposed-stages-of-myocardial-phenotype-development-in-fabry-disease
#7
Sabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, Amna Abdel-Gadir, Shanat Baig, Daniel M Sado, Ilaria Lobascio, Elaine Murphy, Robin H Lachmann, Atul Mehta, Nicola C Edwards, Uma Ramaswami, Richard P Steeds, Derralynn Hughes, James C Moon
OBJECTIVES: The authors sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis. BACKGROUND: Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. By cardiovascular magnetic resonance, native T1 is low in FD because of sphingolipid accumulation. METHODS: A prospective, observational study of 182 FD (167 adults, 15 children; mean age 42 ± 17 years, 37% male) who underwent cardiovascular magnetic resonance including native T1, late gadolinium enhancement (LGE), and extracellular volume fraction, 12-lead electrocardiogram, and blood biomarkers (troponin and N-terminal pro-brain natriuretic peptide)...
May 11, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29777209/tuberculous-meningitis-a-roadmap-for-advancing-basic-and-translational-research
#8
Sanjay K Jain, David M Tobin, Elizabeth W Tucker, Vishwanath Venketaraman, Alvaro A Ordonez, Lakshmi Jayashankar, Omar K Siddiqi, Dima A Hammoud, Nemani V Prasadarao, Matyas Sandor, Richard Hafner, Zsuzsanna Fabry
No abstract text is available yet for this article.
May 18, 2018: Nature Immunology
https://www.readbyqxmd.com/read/29775307/selective-hydrogenations-and-dechlorinations-in-water-mediated-by-anionic-surfactant-stabilized-pd-nanoparticles
#9
Giorgio La Sorella, Laura Sperni, Patrizia Canton, Lisa Coletti, Fabrizio Fabris, Giorgio Strukul, Alessandro Scarso
We report a facile, inexpensive and green method for the preparation of Pd nanoparticles in aqueous medium stabilized by anionic sulfonated surfactants sodium 1-dodecanesulfonate 1a, sodium dodecylbenzenesulfonate 1b, dioctyl sulfosuccinate sodium salt 1c and poly(ethylene glycol) 4-nonylphenyl-3-sulfopropyl ether potassium salt 1d simply obtained by stirring aqueous solutions of Pd(OAc)2 with the commercial anionic surfactants further treated under hydrogen atmosphere for variable times. The aqueous Pd nanoparticles solutions were tested in the selective hydrogenation reactions of aryl-alcohols, -aldehydes and -ketones leading to complete conversion to the deoxygenated products even in the absence of strong Brønsted acids in the reduction of aromatic aldehydes and ketones, in the controlled semi-hydrogenation of alkynes leading to alkenes and in the efficient hydro-dechlorination of aromatic substrates...
May 18, 2018: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/29772700/inhibition-of-arachidonate-12-15-lipoxygenase-improves-%C3%AE-galactosidase-efficacy-in-ipsc-derived-cardiomyocytes-from-fabry-patients
#10
Yueh Chien, Shih-Jie Chou, Yuh-Lih Chang, Hsin-Bang Leu, Yi-Ping Yang, Ping-Hsing Tsai, Ying-Hsiu Lai, Kuan-Hsuan Chen, Wei-Chao Chang, Shih-Hsien Sung, Wen-Chung Yu
(1) Background: A high incidence of intervening sequence (IVS)4+919 G>A mutation with later-onset cardiac phenotype have been reported in a majority of Taiwan Fabry cohorts. Some evidence indicated that conventional biomarkers failed to predict the long-term progression and therapeutic outcome; (2) Methods: In this study, we constructed an induced pluripotent stem cell (iPSC)-based platform from Fabry cardiomyopathy (FC) patients carrying IVS4+919 G>A mutation to screen for potential targets that may help the conventional treatment; (3) Results: The FC-patient-derived iPSC-differentiated cardiomyocytes (FC-iPSC-CMs) carried an expected IVS4+919 G>A genetic mutation and recapitulated several FC characteristics, including low α-galactosidase A enzyme activity and cellular hypertrophy...
May 16, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29772037/a-review-of-fabry-disease
#11
A Cinats, E Heck
The class of medications known as Janus kinase inhibitors block cytokine-mediated signaling via the Janus kinase-signal transducer and activator of transcription (JAK-STAT) pathway, which plays an important role in immunoregulation and normal cell growth. This class includes the drugs tofacitinib, approved for the treatment of rheumatoid arthritis, and ruxolitinib, approved for the treatment of myelofibrosis and polycythemia rubra vera. The most common adverse events (AEs) reported in patients taking tofacitinib are infections, whereas the most common AEs in patients taking ruxolitinib are anemia and thrombocytopenia...
May 2018: Skin Therapy Letter
https://www.readbyqxmd.com/read/29770213/variable-phenotypic-presentations-of-renal-involvement-in-fabry-disease-a-case-series
#12
Sarah McCloskey, Paul Brennan, John A Sayer
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation...
2018: F1000Research
https://www.readbyqxmd.com/read/29769619/passive-temperature-control-based-on-a-phase-change-metasurface
#13
Sheng-Rui Wu, Kuan-Lin Lai, Chih-Ming Wang
In this paper, a tunable mid-infrared metasurface based on VO2 phase change material is proposed for temperature control. The proposed structure consisting of a VO2 /SiO2 /VO2 cavity supports a thermally switchable Fabry-Perot-like resonance mode at the transparency window of the atmosphere. Theoretically, the radiative cooling power density of the proposed metasurface can be switched to four-fold as the device temperature is below/above the phase change temperature of VO2 . Besides radiative cooling, a passive temperature control application based on this huge cooling power switching ability is theoretically demonstrated...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29762601/demonstration-of-a-highly-stable-10-ghz-optical-frequency-comb-with-low-timing-jitter-from-a-scowa-based-harmonically-mode-locked-nested-cavity-laser
#14
Kristina Bagnell, Anthony Klee, Peter J Delfyett, Jason J Plant, Paul W Juodawlkis
An optical frequency comb with mode spacing of 10 GHz operating in the c-band is produced from a harmonically mode-locked laser using a slab-coupled optical waveguide amplifier device with a fiber-coupled external cavity. An intracavity Fabry-Perot etalon serves as a high finesse optical filter for supermode suppression and as the reference for cavity length stabilization using a multi-combline Pound-Drever-Hall setup. The Allan deviation of a single optical combline near 193.4 THz is measured via a heterodyne beat with a cavity stabilized cw laser and reaches a minimum fractional frequency deviation of 3×10-13 at τ=30  ms...
May 15, 2018: Optics Letters
https://www.readbyqxmd.com/read/29762569/transition-of-fabry-perot-and-antiresonant-mechanisms-via-a-smf-capillary-smf-structure
#15
Xiaobei Zhang, Haiyang Pan, Huawen Bai, Ming Yan, Jiawei Wang, Chuanlu Deng, Tingyun Wang
In this Letter, we investigate the transition of the well-known Fabry-Perot (FP) and antiresonant (AR) mechanisms via a single-mode fiber (SMF)-capillary-SMF structure. The critical length for this transition is analytically found as a linear relation with the capillary inner diameter based on the ray optic method, which shows the agreement with both numerical simulations and experiments. Evolutions of the transmission and reflection spectra verify that FP and AR mechanisms are closely related to the critical length...
May 15, 2018: Optics Letters
https://www.readbyqxmd.com/read/29762562/lineshape-asymmetry-elimination-in-weak-atomic-transitions-driven-by-an-intense-standing-wave-field
#16
Dionysios Antypas, Anne Fabricant, Dmitry Budker
Owing to the ac-Stark effect, the lineshape of a weak optical transition in an atomic beam can become significantly distorted when driven by an intense standing wave field. We use an Yb atomic beam to study the lineshape of the 6s2 S10 →5d6sD31 transition, which is excited with light circulating in a Fabry-Perot resonator. We demonstrate two methods to avoid the distortion of the transition profile. Of these, one relies on the operation of the resonator in multiple longitudinal modes, and the other in multiple transverse modes...
May 15, 2018: Optics Letters
https://www.readbyqxmd.com/read/29762080/molecular-identification-of-hysterothylacium-spp-in-fishes-from-the-southern-mediterranean-sea-southern-italy
#17
Antonella Costa, Stefania Graci, Gaetano Cammilleri, Maria Drussilla Buscemi, Rosaria Collura, Antonio Vella, Vincenzo Ferrantelli
In this research a total of 3,017 fish samples belonging to 11 species from Sicily's Mediterranean coasts were examined for the presence of Hysterothylacium spp. larvae, which were then used in subsequent phylogenetic studies. Fifty-eight Raphidascaridid parasitic nematodes were found in the examined fish, with prevalence values ranging from 0.2% in anchovies to 60% in forkbeard samples. Twenty-seven parasites were identified as Hysterothylacium fabri and Hysterothylacium aduncum by sequencing the following regions: the nuclear ribosomal internal transcribed spacer (ITS) and the mitochondrial cytochrome c oxidase subunit II (cox2)...
May 15, 2018: Journal of Parasitology
https://www.readbyqxmd.com/read/29755794/time-of-anderson-fabry-disease-detection-and-cardiovascular-presentation
#18
K Selthofer-Relatic
Background: Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult...
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/29754762/developmental-delay-in-communication-among-toddlers-and-its-relationship-to-caregiving-behavior-among-violence-exposed-posttraumatically-stressed-mothers
#19
R Torrisi, E Arnautovic, V C Pointet Perizzolo, M Vital, A Manini, F Suardi, M Gex-Fabry, S Rusconi Serpa, D S Schechter
OBJECTIVES: This study aimed to understand if maternal interpersonal violence-related posttraumatic stress disorder (IPV-PTSD) is associated with delayed language development among very young children ("toddlers"). METHODS: Data were collected from 61 mothers and toddlers (ages 12-42 months, mean age = 25.6 months SD = 8.70). Child expressive and receptive language development was assessed by the Ages and Stages Questionnaire (ASQ) communication subscale (ASQCS) that measures language acquisition...
May 10, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29753731/animal-models-of-cholangiocarcinoma-what-they-teach-us-about-the-human-disease
#20
REVIEW
Massimiliano Cadamuro, Simone Brivio, Tommaso Stecca, Eleanna Kaffe, Valeria Mariotti, Chiara Milani, Romina Fiorotto, Carlo Spirli, Mario Strazzabosco, Luca Fabris
Despite recent advances, pathogenesis of cholangiocarcinoma, a highly lethal cancer, remains enigmatic. Furthermore, treatment options are still limited and often disappointing. For this reason, in the last few years there has been a mounting interest towards the generation of experimental models able to reproduce the main features associated with this aggressive behavior. Toxic and infestation-induced, genetically engineered and cell implantation rodent models have been generated, contributing to a deeper understanding of the complex cell biology of the tumor, sustained by multiple cell interactions and driven by a huge variety of molecular perturbations...
May 9, 2018: Clinics and Research in Hepatology and Gastroenterology
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