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https://www.readbyqxmd.com/read/28430823/modulation-the-alternative-splicing-of-gla-ivs4-919g-a-in-fabry-disease
#1
Wen-Hsin Chang, Dau-Ming Niu, Chi-Yu Lu, Shyr-Yi Lin, Ta-Chih Liu, Jan-Gowth Chang
While a base substitution in intron 4 of GLA (IVS4+919G>A) that causes aberrant alternative splicing resulting in Fabry disease has been reported, its molecular mechanism remains unclear. Here we reported that upon IVS4+919G>A transversion, H3K36me3 was enriched across the alternatively spliced region. PSIP1, an adapter of H3K36me3, together with Hsp70 and NONO were recruited and formed a complex with SF2/ASF and SRp20, which further promoted GLA splicing. Amiloride, a splicing regulator in cancer cells, could reverse aberrant histone modification patterns and disrupt the association of splicing complex with GLA...
2017: PloS One
https://www.readbyqxmd.com/read/28430264/optimization-of-excitation-of-fiber-fabry-perot-tunable-filters-used-in-swept-lasers-using-a-phase-correction-method
#2
Mohammad R N Avanaki, Adrian Bradu, Adrian Podoleanu
In this paper we investigate a phase-correction method for compensation of the nonlinearity of conventional wavelength-swept laser sources based on a fiber Fabry-Perot tunable filter as a wavelength selective element. A triangular waveform signal is commonly used to drive the filter. We, however, extract the zero crossings from the interferograms and modify the shape of the triangular signal accordingly. This algorithm was tested for different values of the optical path length difference in the interferometer setup...
April 20, 2017: Applied Optics
https://www.readbyqxmd.com/read/28429522/globotriaosylsphingosine-induces-oxidative-dna-damage-in-cultured-kidney-cells
#3
Giovana Brondani Biancini, Ana Moira Morás, Luiza Steffens Reinhardt, Franciele Faccio Busatto, Nathalia Denise de Moura Sperotto, Jenifer Saffi, Dinara Jaqueline Moura, Roberto Giugliani, Carmen Regla Vargas
Fabry disease (FD) is a lysosomal disorder caused by mutations leading to a deficient activity α-galactosidase A with progressive and systemic accumulation of its substrates. Substrates deposition is related to tissue damage in FD, but the underlying molecular mechanisms remain not completely understood. DNA damage has been associated with disease progression in chronic diseases and was recently described in high levels in Fabry patients. Once renal complications are major morbidity causes in FD, we investigated the effects of the latest biomarker for FD - globotriaosylsphingosine (lyso-Gb3) in a cultured renal lineage - human embryonic kidney cells (HEK-293 T) - on DNA damage...
June 2017: Nephrology
https://www.readbyqxmd.com/read/28427383/is-ischemia-the-only-factor-predicting-cardiovascular-outcomes-in-all-diabetes-mellitus-patients
#4
REVIEW
Mark W Kennedy, Enrico Fabris, Harry Suryapranata, Elvin Kedhi
Diabetes mellitus (DM) is associated with an excess in cardiovascular morbidity and mortality, and is characterized by increased rates of coronary artery disease. Furthermore, once atherosclerosis is established, this is associated with an increased extent, complexity and a more rapid progression than seen in non-DM patients. Ischemia is the single most important predictor of future hard cardiac events and ischemia correction remains the cornerstone of current revascularization strategies. However recent data suggests that, in DM patients, coronary atherosclerosis despite the absence of ischemia, detected by either invasive or non-invasive methods, may not be associated with the same low risk of future cardiac events as seen in non-DM patients...
April 20, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28420744/the-transcription-factor-bzip14-regulates-the-tca-cycle-in-the-diatom-phaeodactylum-tricornutum
#5
Michiel Matthijs, Michele Fabris, Toshihiro Obata, Imogen Foubert, José Manuel Franco-Zorrilla, Roberto Solano, Alisdair R Fernie, Wim Vyverman, Alain Goossens
Diatoms are amongst the most important marine microalgae in terms of biomass, but little is known concerning the molecular mechanisms that regulate their versatile metabolism. Here, the pennate diatom Phaeodactylum tricornutum was studied at the metabolite and transcriptome level during nitrogen starvation and following imposition of three other stresses that impede growth. The coordinated upregulation of the tricarboxylic acid (TCA) cycle during the nitrogen stress response was the most striking observation...
April 18, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28420083/a-theoretical-study-and-numerical-simulation-of-a-quasi-distributed-sensor-based-on-the-low-finesse-fabry-perot-interferometer-frequency-division-multiplexing
#6
José Trinidad Guillen Bonilla, Alex Guillen Bonilla, Verónica M Rodríguez Betancourtt, Héctor Guillen Bonilla, Antonio Casillas Zamora
The application of the sensor optical fibers in the areas of scientific instrumentation and industrial instrumentation is very attractive due to its numerous advantages. In the industry of civil engineering for example, quasi-distributed sensors made with optical fiber are used for reliable strain and temperature measurements. Here, a quasi-distributed sensor in the frequency domain is discussed. The sensor consists of a series of low-finesse Fabry-Perot interferometers where each Fabry-Perot interferometer acts as a local sensor...
April 14, 2017: Sensors
https://www.readbyqxmd.com/read/28420071/pleuropulmonary-involvement-in-patients-with-systemic-lupus-erythematosus-from-a-latin-american-inception-cohort-gladel
#7
M J Haye Salinas, F Caeiro, V Saurit, A Alvarellos, D Wojdyla, H R Scherbarth, A C de O E Silva, J C Tavares Brenol, L T Lavras Costallat, O J Neira, A Iglesias Gamarra, G Vásquez, G A Reyes Llerena, L A Barile-Fabris, L H Silveira, M J Sauza Del Pozo, E M Acevedo Vásquez, J L Alfaro Lozano, M H Esteva Spinetti, G S Alarcón, B A Pons-Estel
Objectives The objectives of this study were to examine the demographic and clinical features associated with the occurrence of pleuropulmonary manifestations, the predictive factors of their occurrence and their impact on mortality in systemic lupus erythematosus (SLE) patients. Materials and methods The association of pleuropulmonary manifestations with demographic and clinical features, the predictive factors of their occurrence and their impact on mortality were examined in GLADEL patients by appropriate univariable and multivariable analyses...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#8
Nadia Ali, Scott Gillespie, Dawn Laney
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28414231/organic-phosphorescence-nanowire-lasers
#9
Zhenyi Yu, Yishi Wu, Lu Xiao, Jianwei Chen, Qing Liao, Jiannian Yao, Hongbing Fu
Organic solid-state lasers (OSSLs) based on singlet fluorescence have merited intensive study as an important class of light sources. Although the use of triplet phosphors has led to 100% internal quantum efficiency in organic light emitting diodes (OLEDs), stumbling blocks in triplet lasing include generally forbidden intersystem crossing (ISC) and low quantum yield of phosphorescence (ΦP). Here, we reported the first triplet-phosphorescence OSSL from nanowire microcavity of a sulfide-substituted difluoroboron compound...
April 17, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28413011/-nurse-coordinator-and-doctor-coordinator-in-a-gerontology-network
#10
Anne-Laure Couderc, Corinne Gérard, Stéphane Fabriès, Jean-Claude Pical, Patrick Villani
The Marseille gerontology network consists of a geriatric team providing support in patients' homes across the Marseille urban area. It forms an integral part of the geriatric care sector ensuring that elderly people living at home benefit from a global medical-psychological-social assessment. The aim is to enable elderly people to continue living and receiving care in their home.
March 2017: Soins. Gérontologie
https://www.readbyqxmd.com/read/28411095/acute-hepatitis-e-virus-infection-in-a-migrant-population-in-north-east-italy-a-retrospective-analysis
#11
Lucia Bradanini, Daniel Youkee, Paolo Fabris, Luisa Romanò, Enrico Brunetti, Maria Teresa Giordani
OBJECTIVE: To study the epidemiological and clinical features of Hepatitis E Virus (HEV) infection in a migrant population. METHODS: We performed a retrospective chart review, identifying a cohort of 21 symptomatic patients of migrant origin with confirmed HEV infection admitted in the period between January 1995-November 2014. RESULTS: 20 (95%) patients came from South Asian countries highly endemic for HEV, all positive for HEV genotype 1...
April 11, 2017: Travel Medicine and Infectious Disease
https://www.readbyqxmd.com/read/28410446/self-reported-long-term-benefits-of-mindfulness-based-cognitive-therapy-in-patients-with-bipolar-disorder
#12
Béatrice Weber, Loretta Sala, Marianne Gex-Fabry, Aurélie Docteur, Philip Gorwood, Paolo Cordera, Guido Bondolfi, Françoise Jermann, Jean-Michel Aubry, Christine Mirabel-Sarron
OBJECTIVES: This study focused on patients with bipolar disorder (BD), several years after their participation in mindfulness-based cognitive therapy (MBCT). It aimed at documenting sustained mindfulness practice, perceived long-term benefit from the program, and changes regarded as direct consequences of the intervention. DESIGN: This cross-sectional survey took place at least 2 years after MBCT for 70.4% of participants. LOCATION: It was conducted in two specialized outpatient units for BDs that are part of the Geneva University Hospitals (Switzerland) and the Sainte-Anne Hospital in Paris (France)...
April 14, 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28409791/cavity-induced-phase-noise-suppression-in-a-fabry-perot-modulator-based-optical-frequency-comb
#13
Joonyoung Kim, David J Richardson, Radan Slavík
We investigate for the first time, to the best of our knowledge, both theoretically and experimentally, how the phase noise of the radio frequency (RF) drive signal affects the phase noise of the individual tones of a Fabry-Perot (F-P) modulator-based optical frequency comb. We observe that the expected deleterious effect of the RF drive signal phase noise on the comb output is partially suppressed due to the filtering characteristics of the F-P cavity. We found that the cavity-induced phase noise suppression is strongest for high-order comb tones, e...
April 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28409012/enhancing-the-diagnosis-of-fabry-disease-in-cardiology-with-a-targeted-information-a-before-after-control-impact-study
#14
Anne-Louise Savary, Remy Morello, Carole Brasse-Lagnel, Paul Milliez, Soumeya Bekri, Fabien Labombarda
BACKGROUND: Cardiac complications in Fabry disease are frequent and dominated by a high frequency of left ventricular hypertrophy; therefore, cardiologists may have an essential role in screening for this disease. Providing cardiologists with targeted information on Fabry disease would be valuable and could reduce both diagnostic and therapeutic delays. The aim of this study was to evaluate the efficiency of such strategy for Fabry screening. METHODS: We conducted a before-after control-impact study by comparing observations made before and after targeted information on Fabry disease among cardiologists...
2017: Open Heart
https://www.readbyqxmd.com/read/28408463/bone-marrow-histology-for-the-diagnosis-of-essential-thrombocythemia-in-children-a-multi-center-italian-study
#15
Maria Caterina Putti, Marco Pizzi, Irene Bertozzi, Elena Sabattini, Concetta Micalizzi, Piero Farruggia, Ugo Ramenghi, Simone Cesaro, Giovanna Russo, Edoardo Peroni, Massimo Rugge, Fabrizio Fabris, Maria Luigia Randi
No abstract text is available yet for this article.
April 13, 2017: Blood
https://www.readbyqxmd.com/read/28408242/intravenous-immunoglobulin-protects-against-severe-pandemic-influenza-infection
#16
Steven Rockman, Sue Lowther, Sarina Camuglia, Kirsten Vandenberg, Shirley Taylor, Lou Fabri, Sylvia Miescher, Martin Pearse, Deborah Middleton, Stephen J Kent, Darryl Maher
Influenza is a highly contagious, acute, febrile respiratory infection that can have fatal consequences particularly in individuals with chronic illnesses. Sporadic reports suggest that intravenous immunoglobulin (IVIg) may be efficacious in the influenza setting. We investigated the potential of human IVIg to ameliorate influenza infection in ferrets exposed to either the pandemic H1N1/09 virus (pH1N1) or highly pathogenic avian influenza (H5N1). IVIg administered at the time of influenza virus exposure led to a significant reduction in lung viral load following pH1N1 challenge...
April 6, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28406229/the-role-of-focal-adhesion-anchoring-domains-of-cas-in-mechanotransduction
#17
Jaroslav Braniš, Csilla Pataki, Marina Spörrer, Richard C Gerum, Astrid Mainka, Vladimir Cermak, Wolfgang H Goldmann, Ben Fabry, Jan Brabek, Daniel Rosel
CAS is a docking protein, which was shown to act as a mechanosensor in focal adhesions. The unique assembly of structural domains in CAS is important for its function as a mechanosensor. The tension within focal adhesions is transmitted to a stretchable substrate domain of CAS by focal adhesion-targeting of SH3 and CCH domain of CAS, which anchor the CAS protein in focal adhesions. Mechanistic models of the stretching biosensor propose equal roles for both anchoring domains. Using deletion mutants and domain replacements, we have analyzed the relative importance of the focal adhesion anchoring domains on CAS localization and dynamics in focal adhesions as well as on CAS-mediated mechanotransduction...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28404808/use-of-rs-fmri-in-fabry-disease-do-we-need-it
#18
Antonio Siniscalchi
No abstract text is available yet for this article.
April 12, 2017: Neurology
https://www.readbyqxmd.com/read/28404798/alterations-of-functional-connectivity-of-the-motor-cortex-in-fabry-disease-an-rs-fmri-study
#19
Sirio Cocozza, Antonio Pisani, Gaia Olivo, Francesco Saccà, Lorenzo Ugga, Eleonora Riccio, Silvia Migliaccio, Vincenzo Brescia Morra, Arturo Brunetti, Mario Quarantelli, Enrico Tedeschi
OBJECTIVE: To evaluate the presence of functional connectivity (FC) alterations of the motor circuits in patients with Fabry disease (FD) and their possible correlation with clinical variables with a resting-state (RS) fMRI analysis. METHODS: In our cross-sectional study, 32 patients with FD with genetically confirmed classic diagnosis of FD (12 men, mean age 43.3 ± 12.2 years) were enrolled along with 35 healthy controls (HCs) of comparable age and sex (14 men, mean age 42...
April 12, 2017: Neurology
https://www.readbyqxmd.com/read/28403371/development-of-a-theoretical-practical-script-for-clinical-simulation
#20
Renata Paula Fabri, Alessandra Mazzo, José Carlos Amado Martins, Ariadne da Silva Fonseca, César Eduardo Pedersoli, Fernanda Berchelli Girão Miranda, Laís Fumincelli, Rui Carlos Negrão Baptista
OBJECTIVE: To develop a theoretical-practical script based on the opinion of experts to be used in simulated clinical activities. METHOD: Qualitative study through analysis of content of interviews with experts on the theme in order to develop the proposed script. Of the 24 invited experts, 12 specialists from educational institutions in Brazil and abroad participated in the study in compliance with the ethical precepts. The experts responded to questions on the characterization of their study attributes and described the items required for the development of a simulated scenario...
April 10, 2017: Revista da Escola de Enfermagem da U S P
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