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https://www.readbyqxmd.com/read/28226362/ambulatory-arterial-stiffness-indexes-in-cushing-s-syndrome
#1
Marialberta Battocchio, Andrea Rebellato, Andrea Grillo, Francesca Dassie, Pietro Maffei, Stella Bernardi, Bruno Fabris, Renzo Carretta, Francesco Fallo
Long-standing exposure to endogenous cortisol excess is associated with high cardiovascular risk. The aim of our study was to investigate arterial stiffness, which has been recognized as an independent predictor of adverse cardiovascular outcome, in a group of patients with Cushing's syndrome. Twenty-four patients with Cushing's syndrome (3 males, mean age 49±13 years; 20 pituitary-dependent Cushing's disease and 4 adrenal adenoma) underwent 24-h ambulatory blood pressure monitoring (ABPM) and evaluation of cardiovascular risk factors...
February 22, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28225726/computer-assisted-retinal-vessel-tortuosity-evaluation-in-novel-mutation-fabry-disease-towards-new-prognostic-markers
#2
Irene San Román, María-Elena Rodríguez, Orsola Caporossi, Claudia Zoppetti, Andrea Sodi, Alessandro Mecocci, David López, Beatriz Rodríguez, Juan-Ramón Gimeno
PURPOSE: Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. METHODS: Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index...
March 2017: Retina
https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#3
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28224042/a-new-mutation-found-in-newborn-screening-for-fabry-disease-evaluated-by-plasma-globotriaosylsphingosine-levels
#4
Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama, Kimitoshi Nakamura
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28223315/the-focal-adhesion-targeting-fat-domain-of-p130-crk-associated-substrate-p130cas-confers-mechanosensing-function
#5
Peta M Bradbury, Kylie Turner, Camilla Mitchell, Kaitlyn R Griffin, Shiloh Middlemiss, Loretta Lau, Rebecca Dagg, Elena Taran, Justin Cooper-White, Ben Fabry, Geraldine M O'Neill
The Cas family of focal adhesion proteins contain a highly conserved C-terminal focal adhesion targeting (FAT) domain. To determine the role of the FAT domain we compared wildtype exogenous NEDD9 with a hybrid construct in which the NEDD9 FAT domain is exchanged for the p130Cas FAT domain. Fluorescence recovery after photobleaching (FRAP) revealed significantly slowed exchange of the fusion protein at focal adhesions and significantly slower 2D migration. No differences were detected in cell stiffness measured with Atomic Force Microscopy (AFM) and cell adhesion forces measured with a magnetic tweezer device...
February 21, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28218727/an-optical-fibre-depth-pressure-sensor-for-remote-operated-vehicles-in-underwater-applications
#6
Dinesh Babu Duraibabu, Sven Poeggel, Edin Omerdic, Romano Capocci, Elfed Lewis, Thomas Newe, Gabriel Leen, Daniel Toal, Gerard Dooly
A miniature sensor for accurate measurement of pressure (depth) with temperature compensation in the ocean environment is described. The sensor is based on an optical fibre Extrinsic Fabry-Perot interferometer (EFPI) combined with a Fibre Bragg Grating (FBG). The EFPI provides pressure measurements while the Fibre Bragg Grating (FBG) provides temperature measurements. The sensor is mechanically robust, corrosion-resistant and suitable for use in underwater applications. The combined pressure and temperature sensor system was mounted on-board a mini remotely operated underwater vehicle (ROV) in order to monitor the pressure changes at various depths...
February 19, 2017: Sensors
https://www.readbyqxmd.com/read/28218658/uw-imaging-of-seismic-physical-models-in-air-using-fiber-optic-fabry-perot-interferometer
#7
Qiangzhou Rong, Yongxin Hao, Ruixiang Zhou, Xunli Yin, Zhihua Shao, Lei Liang, Xueguang Qiao
A fiber-optic Fabry-Perot interferometer (FPI) has been proposed and demonstrated for the ultrasound wave (UW) imaging of seismic-physical models. The sensor probe comprises a single mode fiber (SMF) that is inserted into a ceramic tube terminated by an ultra-thin gold film. The probe performs with an excellent UW sensitivity thanks to the nanolayer gold film, and thus is capable of detecting a weak UW in air medium. Furthermore, the compact sensor is a symmetrical structure so that it presents a good directionality in the UW detection...
February 17, 2017: Sensors
https://www.readbyqxmd.com/read/28216695/continuous-self-sustaining-smouldering-destruction-of-simulated-faeces
#8
Ivo Fabris, Daniel Cormier, Jason I Gerhard, Tomek Bartczak, Mark Kortschot, Jose L Torero, Yu-Ling Cheng
A new approach for the rapid destruction of human waste using smouldering combustion is presented. Recently, self-sustaining smouldering combustion was shown to destroy the organic component of simulated human solid waste and dog faeces resulting in the sanitization of all pathogens using a batch process (Yermán et al., 2015). Here, a continuous smouldering process is demonstrated for the first time, allowing for a much smaller reactor size and much less energy input per mass of waste treated. The self-sustained smouldering of simulated human faeces mixed with sand is evaluated over long periods (more than 16 h) based on a single ignition...
February 15, 2017: Fuel
https://www.readbyqxmd.com/read/28216674/ccr7-deficient-inflammatory-dendritic-cells-are-retained-in-the-central-nervous-system
#9
Benjamin D Clarkson, Alec Walker, Melissa G Harris, Aditya Rayasam, Martin Hsu, Matyas Sandor, Zsuzsanna Fabry
Dendritic cells (DC) accumulate in the CNS during neuroinflammation, yet, how these cells contribute to CNS antigen drainage is still unknown. We have previously shown that after intracerebral injection, antigen-loaded bone marrow DC migrate to deep cervical lymph nodes where they prime antigen-specific T cells and exacerbate experimental autoimmune encephalomyelitis (EAE) in mice. Here, we report that DC migration from brain parenchyma is dependent upon the chemokine receptor CCR7. During EAE, both wild type and CCR7-/- CD11c-eYFP cells infiltrated into the CNS but cells that lacked CCR7 were retained in brain and spinal cord while wild type DC migrated to cervical lymph nodes...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28208624/an-optoelectronic-equivalent-narrowband-filter-for-high-resolution-optical-spectrum-analysis
#10
Kunpeng Feng, Jiwen Cui, Hong Dang, Weidong Wu, Xun Sun, Xuelin Jiang, Jiubin Tan
To achieve a narrow bandwidth optical filter with a wide swept range for new generation optical spectrum analysis (OSA) of high performance optical sensors, an optoelectronic equivalent narrowband filter (OENF) was investigated and a swept optical filter with bandwidth of several MHz and sweep range of several tens of nanometers was built using electric filters and a sweep laser as local oscillator (LO). The principle of OENF is introduced and analysis of the OENF system is presented. Two electric filters are optimized to be RBW filters for high and medium spectral resolution applications...
February 10, 2017: Sensors
https://www.readbyqxmd.com/read/28198850/simple-interrogator-for-optical-fiber-based-white-light-fabry-perot-interferometers
#11
Zhihao Yu, Zhipeng Tian, Anbo Wang
In this Letter, we present the design of a simple signal interrogator for optical fiber-based white light Fabry-Perot (F-P) interferometers. With the hardware being composed of only a flat fused silica wafer and a CCD camera, this interrogator translates the spectral interference into a spatial interference pattern, and then demodulates the F-P cavity length with the use of a relatively simple demodulation algorithm. The concept is demonstrated experimentally in a fiber optic sensor with a sapphire wafer as the F-P cavity...
February 15, 2017: Optics Letters
https://www.readbyqxmd.com/read/28197106/inhibition-of-intermediate-conductance-calcium-activated-k-channel-kca3-1-and-fibroblast-mitogenesis-by-%C3%AE-linolenic-acid-and-alterations-of-channel-expression-in-the-lysosomal-storage-disorders-fabry-disease-and-niemann-pick-c
#12
Aida Oliván-Viguera, Javier Lozano-Gerona, Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Edgar Abarca-Lachen, Ana J García-Malinis, Ángel Luis García-Otín, Yolanda Gilaberte, Pilar Giraldo, Ralf Köhler
The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K(+)-efflux, cell volume, and membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). In the first part of present study, we characterize KCa3.1 in murine and human fibroblasts and test the impact of omega-3 fatty acids on fibroblast proliferation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28185452/organic-nanowire-sio2-core-shell-microlasers-with-highly-polarized-and-narrow-emissions-for-biological-imaging
#13
Changfu Feng, Zhenzhen Xu, Xu Wang, Hongjuan Yang, Lemin Zheng, Hongbing Fu
Development of luminescence probes with polarized and narrow emissions simultaneously is helpful for removing multiply scattered light and enables multiplexing detection, but it remains challenging to use conventional organic dyes, fluorescence proteins, and quantum dots. Here, we demonstrated smart one-dimensional microlaser probes (MLPs) by coating a thin layer of silica shell on the surface of organic nanowires (ONWs) of 1,4-dimethoxy-2,5-di[4'-(methylthio)styryl]benzene (TDSB), namely, ONW@SiO2 core-shell structures...
February 20, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28178158/life-threatening-bleeding-from-gastric-mucosal-angiokeratomas-during-anticoagulation-a-case-report-of-fabry-disease
#14
Eungu Kang, Yoon-Myung Kim, Dae-Hee Kim, Han-Wook Yoo, Beom Hee Lee
RATIONALE: Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions. PATIENT CONCERNS, DIAGNOSES, INTERVENTIONS, AND OUTCOMES: Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagulation for atrial fibrillation. LESSONS: Careful observation for gastrointestinal bleeding is warranted for patients on anticoagulation with extensive cutaneous angiokeratomas...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28176508/a-structured-therapeutic-education-program-for-children-and-adolescents-with-type-1-diabetes-an-analysis-of-the-efficacy-of-the-pediatric-education-for-diabetes-project
#15
Alessandra Mauri, Susanna Schmidt, Valentina Sosero, Maria Sambataro, Laura Nollino, Francesco Fabris, Anna Corò, Antonella Scantamburlo, Michela Cazziola-Merlotto, Tania Ciani, Michele Tessarin, Agostino Paccagnella
BACKGROUND: Therapeutic education for Type 1 Diabetes involves the process of transmitting knowledge and developing the skills and behavior required to treat the disease. guidelines agree on stressing the importance of therapeutic educational intervention in teaching self-management skills to children and adolescents with Type 1 Diabetes (T1D). This study presents the results of the "Pediatric Education for Type 1 Diabetes (T1D)" (PED) project, specifically designed for children and adolescents aged 6 to 16, and structured on guidelines indications, as part of a broader clinical-educational intervention for Type 1 diabetes...
February 7, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28169557/the-evolution-of-cardiology-changes-future-challenges-and-opportunities
#16
Gianfranco Sinagra, Enrico Fabris, Luigi Tavazzi
The field of cardiovascular medicine continues to rapidly evolve in both diagnostic and therapeutic arenas. Subspecialization is required to keep pace with evolving practice; however, a multidisciplinary approach in a framework of cost-benefit care will be equally crucial in the management of increasing numbers of complex patients. Information technology and translational medicine may radically change clinical research and practice. It is important to consider the evolution of medicine and reflect on it in order to set the right course to achieve patient-centered goals...
February 7, 2017: Future Cardiology
https://www.readbyqxmd.com/read/28166746/a-comparison-of-central-nervous-system-involvement-in-patients-with-classical-fabry-disease-or-the-later-onset-subtype-with-the-ivs4-919g-a-mutation
#17
Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, Wen-Chung Yu, Tzu-Hung Chu, Chia-Feng Yang, Svetlana Bizjajeva, Chui-Mei Tiu, Dau-Ming Niu
BACKGROUND: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015)...
February 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28163345/thermal-residual-stresses-in-bilayered-trilayered-and-graded-dental-ceramics
#18
Douglas Fabris, Júlio C M Souza, Filipe S Silva, Márcio Fredel, Joana Mesquita-Guimarães, Yu Zhang, Bruno Henriques
Layered ceramic systems are usually hit by residual thermal stresses created during cooling from high processing temperature. The purpose of this study was to determine the thermal residual stresses at different ceramic multi-layered systems and evaluate their influence on the bending stress distribution. Finite elements method was used to evaluate the residual stresses in zirconia-porcelain and alumina-porcelain multi-layered discs and to simulate the 'piston-on-ring' test. Temperature-dependent material properties were used...
March 2017: Ceramics International
https://www.readbyqxmd.com/read/28161408/anti-blys-antibody-reduces-the-immune-reaction-against-enzyme-and-enhances-the-efficacy-of-enzyme-replacement-therapy-in-fabry-disease-model-mice
#19
Yohei Sato, Hiroyuki Ida, Toya Ohashi
Formation of antibodies against a therapeutic enzyme is an important complication during enzyme replacement therapy (ERT) for lysosomal storage diseases. Fabry disease (FD) is caused by a deficiency of alpha-galactosidase (GLA), which results in the accumulation of globotriaosylceramide (GL-3). We have shown immune tolerance induction (ITI) during ERT in FD model mice by using an anti-B lymphocyte stimulator (anti-BlyS) antibody (belimumab). A single dose of the anti-BlyS antibody temporarily lowered the percentage of B cells and IgG antibody titer against recombinant human GLA...
February 2, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28158561/tetrahydrobiopterin-deficiency-in-the-pathogenesis-of-fabry-disease
#20
Jin-Song Shen, Erland Arning, Michael L West, Taniqua S Day, Shuyuan Chen, Xing-Li Meng, Sabrina Forni, Nathan McNeill, Ozlem Goker-Alpan, Xuan Wang, Paula Ashcraft, David F Moore, Seng H Cheng, Raphael Schiffmann, Teodoro Bottiglieri
No abstract text is available yet for this article.
February 2, 2017: Human Molecular Genetics
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