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https://www.readbyqxmd.com/read/28341873/exploring-the-plasmatic-platelet-activating-factor-acetylhydrolase-activity-in-patients-with-anti-phospholipid-antibodies
#1
Martina Fabris, Adriana Cifù, Cinzia Pistis, Massimo Siega-Ducaton, Desrè Ethel Fontana, Roberta Giacomello, Elio Tonutti, Francesco Curcio
PURPOSE: To explore the role of plasmatic platelet-activating factor acetylhydrolase (PAF-AH), a marker of cardiovascular risk, in patients with anti-phospholipid antibodies (aPL). METHODS: PAF-AH activity was assessed in a series of 167 unselected patients screened for aPL in a context of thrombotic events, risk of thrombosis or obstetric complications and in 77 blood donors. RESULTS: 116/167 patients showed positive results for at least one aPL among IgG/IgM anti-prothrombin/phosphatidylserine (aPS/PT), anti-cardiolipin (aCL), anti-beta2-glycoprotein I (aβ2GPI) or lupus anticoagulant (LAC), while 51/167 patients resulted aPL-negative...
December 2017: Auto- Immunity Highlights
https://www.readbyqxmd.com/read/28340804/preliminary-screening-results-of-fabry-disease-in-kidney-transplantation-patients-a-single-center-study
#2
M Yılmaz, S K Uçar, G Aşçı, E Canda, F A Tan, C Hoşcoşkun, M Çoker, H Töz
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of alfa-galactosidase A (AGALA) and leads to progressive impairment of renal function in almost all male patients and in a significant proportion of female patients. FD is underdiagnosed or even misdiagnosed in patients undergoing kidney transplantation. We initiated a selective screening study for FD among kidney transplant patients in our center. In this study, 1095 male and female patients were included. Dried blood samples on Guthrie papers were used to analyze galactosidase A enzyme for male patients...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28340691/fabry-disease-a-fundamental-genetic-modifier-of-cardiac-function
#3
REVIEW
A Tadevosyan
Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction...
January 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/28337063/a-novel-mutation-and-in-vivo-confocal-microscopic-findings-in-fabry-disease
#4
Cumali Degirmenci, Suzan Guven Yilmaz, Huseyin Onay, Melis Palamar, Sema Kalkan Ucar, Meral Kayikcioglu, Mahmut Coker
Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene...
January 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28337031/multimode-fiber-tip-fabry-perot-cavity-for-highly-sensitive-pressure-measurement
#5
W P Chen, D N Wang, Ben Xu, C L Zhao, H F Chen
We demonstrate an optical Fabry-Perot interferometer fiber tip sensor based on an etched end of multimode fiber filled with ultraviolet adhesive. The fiber device is miniature (with diameter of less than 60 μm), robust and low cost, in a convenient reflection mode of operation, and has a very high gas pressure sensitivity of -40.94 nm/MPa, a large temperature sensitivity of 213 pm/°C within the range from 55 to 85 °C, and a relatively low temperature cross-sensitivity of 5.2 kPa/°C. This device has a high potential in monitoring environment of high pressure...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28335290/the-effect-of-viscous-air-damping-on-an-optically-actuated-multilayer-mos%C3%A2-nanomechanical-resonator-using-fabry-perot-interference
#6
Yumei She, Cheng Li, Tian Lan, Xiaobin Peng, Qianwen Liu, Shangchun Fan
We demonstrated a multilayer molybdenum disulfide (MoS₂) nanomechanical resonator by using optical Fabry-Perot (F-P) interferometric excitation and detection. The thin circular MoS₂ nanomembrane with an approximate 8-nm thickness was transferred onto the endface of a ferrule with an inner diameter of 125 μm, which created a low finesse F-P interferometer with a cavity length of 39.92 μm. The effects of temperature and viscous air damping on resonance behavior of the resonator were investigated in the range of -10-80 °C...
September 5, 2016: Nanomaterials
https://www.readbyqxmd.com/read/28331949/-nontuberculous-mycobacteria
#7
K Emmerich, M Fabri
Dermatologically relevant nontuberculous mycobacteria (NTM) include Mycobacterium marinum and Mycobacterium ulcerans and different rapidly growing mycobacteria (RGM). RGM are widely present in the environment and are facultative pathogenic. Diagnostic detection of nontuberculous mycobacteria is frequently challenging. Immune-competent individuals mostly develop localized infections. Immune-suppressed patients may present with severe and disseminated disease. In these cases, rapid initiation of medical treatment is important...
March 22, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28329906/-the-fabry-s-disease-cardiomyopathy-as-differential-diagnosis-of%C3%A2-acute-coronary-syndrome
#8
Daniel Oder, Stefan Störk, Christoph Wanner, Georg Ertl, Frank Weidemann, Peter Nordbeck
The progressive cardiomyopathy in patients with Fabry disease is often accompanied by angina pectoris and elevated levels of high-sensitive troponin T (hs-TnT), potentially mimicking acute coronary syndrome. Here, we present to representative cases with focus on clinical, diagnostic and therapeutic settings. An overview on the cardiomyopathy associated with Fabry disease and its role as differential diagnosis of acute coronary syndrome is provided. Fabry cardiomyopathy might exhibit similar clinical and biochemical constellations as seen in acute coronary syndrome...
March 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28327573/clinical-utility-gene-card-for-fabry-disease-update-2016
#9
Andreas Gal, Michael Beck, Wolfgang Höppner, Dominique P Germain
No abstract text is available yet for this article.
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28324326/the-impact-of-fabry-disease-on-reproductive-fitness
#10
Dawn A Laney, Virginia Clarke, Allison Foley, Eric W Hall, Scott E Gillespie, Myrl Holida, Morgan Simmons, Alexandrea Wadley
Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada...
March 22, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28315694/incorporation-of-autopsy-case-based-learning-into-phd-graduate-education-a-novel-approach-to-bridging-the-bench-to-bedside-gap
#11
Erin G Brooks, Joanne M Thornton, Erik A Ranheim, Zsuzsanna Fabry
Given the current rapid expansion of biological knowledge and the challenges of translating that knowledge into clinical practice, finding effective methods of teaching graduate students clinical medicine concepts has become even more critical. The utility of autopsy in medical student and resident education has been well-established. Multiple studies have reported it to be a helpful means of teaching anatomy, pathophysiology, clinical problem-solving skills, and medical diagnostic techniques. While various models of training Ph...
March 15, 2017: Human Pathology
https://www.readbyqxmd.com/read/28303683/factors-associated-with-deferred-lesion-failure-following-fractional-flow-reserve-assessment-in-patients-with-diabetes-mellitus
#12
Mark W Kennedy, Enrico Fabris, Renicus S Hermanides, Emel Kaplan, Nanette Borren, Balazs Berta, Petra C Koopmans, Jan Paul Ottervanger, Harry Suryapranata, Elvin Kedhi
OBJECTIVE: To explore the predictors of deferred lesion failure (DLF) in patients with diabetes mellitus (DM) and lesions with a fractional flow reserve (FFR) >0.80 and to examine whether a predictive relationship between negative FFR values (>0.80-1.00) and DLF exists. BACKGROUND: DM is associated with rapidly progressive atherosclerosis and predictors of DLF in FFR negative lesions in this high-risk group are unknown. METHODS: All DM patients who underwent FFR-assessment between 1/01/2010 and 31/12/2013 were included, and followed until 1/7/2015...
March 17, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#13
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28301824/using-a-dual-task-protocol-to-investigate-motor-and-cognitive-performance-in-healthy-children-and-youth
#14
Tracy L Fabri, Katherine E Wilson, Nicole Holland, Andrea Hickling, James Murphy, Philippe Fait, Nick Reed
OBJECTIVES: Mild traumatic brain injury (or concussion) is a prevalent yet understudied health concern in children and youth. This injury can cause dysfunction in both motor and cognitive domains; however, most literature focuses on single-task neuropsychological tests which only assess cognition. Although dual-task research on concussed children and youth is needed as many daily activities require both motor and cognitive domains, we must first investigate whether performing simultaneous motor and cognitive tasks of varied complexity impact these domains in healthy children and youth...
March 6, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28300554/amelioration-of-serum-8-ohdg-level-by-enzyme-replacement-therapy-in-patients-with-fabry-cardiomyopathy
#15
Kuan-Hsuan Chen, Yueh-Ching Chou, Chen-Yuan Hsiao, Yueh Chien, Kang-Ling Wang, Ying-Hsiu Lai, Yuh-Lih Chang, Dau-Ming Niu, Wen-Chung Yu
OBJECTIVES: The level of 8-hydroxy-2-deoxyguanosise (8-OHdG) is a marker of oxidative stress. The objective of this study was to evaluate the effect of enzyme replacement therapy (ERT) on the level of 8-OHdG in patients with Fabry cardiomyopathy and the clinical evolution of Fabry cardiomyopathy. METHODS: We measured the serum levels of 8-OHdG in 20 healthy control and 22 patients with Fabry cardiomyopathy before and after ERT. RESULTS: The mean lysoGb3 and 8-OHdG levels was significantly increased in patients with Fabry cardiomyopathy compared with that of control subjects (lysoGb3, 3...
March 11, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28299312/genetic-screening-of-mutations-associated-with-fabry-disease-in-a-nationwide-cohort-of-juvenile-idiopathic-arthritis-patients
#16
Maria J Gonçalves, Ana F Mourão, António Martinho, Olívia Simões, José Melo-Gomes, Manuel Salgado, Paula Estanqueiro, Célia Ribeiro, Iva Brito, João E Fonseca, Helena Canhão
Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28296917/enzyme-replacement-therapy-for-anderson-fabry-disease-a-complementary-overview-of-a-cochrane-publication-through-a-linear-regression-and-a-pooled-analysis-of-proportions-from-cohort-studies
#17
Regina El Dib, Huda Gomaa, Alberto Ortiz, Juan Politei, Anil Kapoor, Fellype Barreto
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided little evidence on the use of enzyme replacement therapy (ERT). We now complement this review through a linear regression and a pooled analysis of proportions from cohort studies. OBJECTIVES: To evaluate the efficacy and safety of ERT for AFD...
2017: PloS One
https://www.readbyqxmd.com/read/28295647/solid-state-electrolyte-gated-graphene-in-optical-modulators
#18
Francisco J Rodriguez, Diana E Aznakayeva, Owen P Marshall, Vasyl G Kravets, Alexander N Grigorenko
The gate-tunable wide-band absorption of graphene makes it suitable for light modulation from terahertz to visible light. The realization of graphene-based modulators, however, faces challenges connected with graphene's low absorption and the high electric fields necessary to change graphene's optical conductivity. Here, a solid-state supercapacitor effect with the high-k dielectric hafnium oxide is demonstrated that allows modulation from the near-infrared to shorter wavelengths close to the visible spectrum with remarkably low voltages (≈3 V)...
March 15, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#19
REVIEW
J Finsterer, J Wanschitz, S Quasthoff, S Iglseder, W Löscher, W Grisold
OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances...
March 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28295076/simple-and-seamless-broadband-optical-frequency-comb-generation-using-an-inas-inp-quantum-dot-laser
#20
Li Liu, Xiupu Zhang, Tiefeng Xu, Zhenxiang Dai, Shixun Dai, Taijun Liu
A simple and seamless broadband optical frequency comb (OFC) generator is proposed and experimentally demonstrated using a Fabry-Perot quantum dot mode-locked laser combined with a dual-driven LiNbO<sub>3</sub> Mach-Zehnder modulator driven by a low-power radio frequency (RF) signal. It is experimentally demonstrated that the 10-dB seamless bandwidth of the OFC is 8.2 nm (1.02 THz), which has 62 and 40 comb lines for frequency intervals of 16.56 GHz and 24.84 GHz, respectively. The single-sideband phase noise is as low as -112 and -108  dBc/Hz at an offset of 10 kHz, respectively, for the photodetector-converted 16...
March 15, 2017: Optics Letters
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