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Fabrys

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https://read.qxmd.com/read/30771718/risk-factors-for-pelvic-and-distant-recurrence-in-locally-advanced-cervical-cancer
#1
Ana Carolina Matos Queiroz, Vanessa Fabri, Henrique Mantoan, Solange Moraes Sanches, Andréia Paiva Gadelha Guimarães, Adriana Regina Gonçalves Ribeiro, João Paulo da Nogueira Silveira Lima, Michael Jenwel Chen, Glauco Baiocchi, Alexandre André Balieiro Anastácio da Costa
OBJECTIVE: Despite the benefits of concomitant radiotherapy and cisplatin for locally advanced cervical cancer, recurrence rates remain high. New treatment strategies such as consolidation chemotherapy and different concomitant chemotherapy combinations have been tested in recent years. Identification of the best candidates for each treatment strategy could optimize results. STUDY DESIGN: A retrospective review of data from 127 patients with locally advanced cervical cancer (International Federation of Gynecology and Obstetrics Stages IIB-IVA), treated at a single institution from 2005 to 2014...
February 6, 2019: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://read.qxmd.com/read/30768038/fabry-p%C3%A3-rot-cavity-coupled-microbolometer-terahertz-detector-with-a-continuously-tunable-air-spacer-gap
#2
Xuecou Tu, Chengtao Jiang, Peng Xiao, Shimin Zhai, Xiaoqing Jia, Yaqian Wu, Qingyu Meng, Boyan Chen, Lin Kang, Jian Chen, Peiheng Wu
This Letter demonstrates tunable Nb5 N6 microbolometers operating in the terahertz frequency range. An asymmetric-coupled Fabry-Pérot cavity is constituted by simply placing a movable metallic planar mirror in the back of the silicon substrate. The incident THz radiation onto the Nb5 N6 microbolometer is effectively manipulated by changing the air spacer gap to modulate the phase relation between the reflected wave and incident wave. The experimental measurements reveal that the detailed evolution of the resonance bands as a function of spacing is in excellent agreement with the analysis by using interference theory and simulation...
February 15, 2019: Optics Letters
https://read.qxmd.com/read/30767425/towards-infrared-electronic-eyes-flexible-colloidal-quantum-dot-photovoltaic-detectors-enhanced-by-resonant-cavity
#3
Xin Tang, Matthew M Ackerman, Guohua Shen, Philippe Guyot-Sionnest
Electronic eye cameras are receiving increasing interest due to their unique advantages such as wide field of view, low aberrations, and simple imaging optics compared to conventional planar focal plane arrays. However, the spectral sensing ranges of most electronic eyes are confined to the visible, which is limited by the energy gaps of the sensing materials and by fabrication obstacles. Here, a potential route leading to infrared electronic eyes is demonstrated by exploring flexible colloidal quantum dot (CQD) photovoltaic detectors...
February 15, 2019: Small
https://read.qxmd.com/read/30765910/migalastat-for-fabry-disease
#4
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
February 2019: Australian Prescriber
https://read.qxmd.com/read/30762167/maternal-germline-mosaicism-in-fabry-disease
#5
Luigi Pianese, Antonio Fortunato, Serena Silvestri, Francesco G Solano, Alberto Burlina, Alessandro P Burlina, Michele Ragno
Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme. Here, we report on a family of five members: unaffected parents, one unaffected son, and another son and daughter both carrying the same mutation (p.G138E) in the GLA gene. Genotype analysis using intragenic GLA markers confirmed the maternal origin of the mutation. The affected son and daughter carried the same mutation; however, it was not detected in the peripheral blood, buccal cells, and urinary sediment cells of their mother...
February 14, 2019: Neurological Sciences
https://read.qxmd.com/read/30761862/clinical-applications-of-microenvironment-controlled-immunosuppressive-properties-of-mesenchymal-stem-cells-derived-exosomes-a-review
#6
R Domenis, A Cifù, M Fabris, F Curcio
No abstract text is available yet for this article.
July 2018: Journal of Biological Regulators and Homeostatic Agents
https://read.qxmd.com/read/30761131/dendritic-cell-targeting-using-a-dna-vaccine-induces-specific-antibodies-and-cd4-t-cells-to-the-dengue-virus-envelope-protein-domain-iii
#7
Arthur Baruel Zaneti, Marcio Massao Yamamoto, Fernando Bandeira Sulczewski, Bianca da Silva Almeida, Higo Fernando Santos Souza, Natália Soares Ferreira, Denicar Lina Nascimento Fabris Maeda, Natiely Silva Sales, Daniela Santoro Rosa, Luís Carlos de Souza Ferreira, Silvia Beatriz Boscardin
Dengue fever has become a global threat, causing millions of infections every year. An effective vaccine against all four serotypes of dengue virus (DENV) has not been developed yet. Among the different vaccination strategies available today, DNA vaccines are safe and practical, but currently induce relatively weak immune responses in humans. In order to improve immunogenicity, antigens may be targeted to dendritic cells (DCs), the main antigen presenting cells and orchestrators of the adaptive immune response, inducing T and B cell activation...
2019: Frontiers in Immunology
https://read.qxmd.com/read/30759309/osteocalcin-bone-gla-protein-levels-vascular-calcifications-vertebral-fractures-and-mortality-in-hemodialysis-patients-with-diabetes-mellitus
#8
Maria Fusaro, Maurizio Gallieni, Andrea Aghi, Maria Antonietta Rizzo, Giorgio Iervasi, Thomas L Nickolas, Fabrizio Fabris, Maria Cristina Mereu, Sandro Giannini, Stefania Sella, Andrea Giusti, Annalisa Pitino, Graziella D'Arrigo, Maurizio Rossini, Davide Gatti, Maura Ravera, Luca Di Lullo, Antonio Bellasi, Giuliano Brunori, Antonio Piccoli, Giovanni Tripepi, Mario Plebani
BACKGROUND AND AIMS: Diabetes mellitus is recognized as one of the major causes of end stage kidney disease. Bone Gla protein (BGP) is a vitamin K-dependent protein involved in bone mineralization and vascular calcifications (VC). Our goal was to characterize BGP and undercarboxylated BGP (ucBGP) in DM patients on HD, compared to HD patients without DM, and their association with vascular and bone disease. METHODS: 387 HD patients from 18 dialysis centers in Italy...
February 13, 2019: Journal of Nephrology
https://read.qxmd.com/read/30758152/-the-unusual-couple-a-clinical-case-of-coexistence-between-ahus-and-fabry-s-disease
#9
Salvatore Coppola, Vincenzo Cuomo, Cesare Gerardo Riccio, Ludovica d'Apice, Walter de Simone, Giovambattista Capasso
Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8-10)...
February 2019: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://read.qxmd.com/read/30754056/assessment-of-cardiac-involvement-in-fabry-disease-fd-with-native-t1-mapping
#10
Fritz Christian Roller, Sven Fuest, Marco Meyer, Sebastian Harth, Dursun Gündüz, Pascal Bauer, Christian Schneider, Arndt Rolfs, Gabriele Anja Krombach, Christian Tanislav
PURPOSE:  Fabry disease (FD) is an X-linked multi-organ disorder of lysosomal metabolism with cardiac disease being the leading cause of death. Identifying early FD-specific pathologies is important in the context of maximum therapeutic benefit in these stages. Therefore, the aim of this study was to investigate the value of quantitative cardiac T1 mapping as a potential disease-specific surrogate. METHODS:  16 consecutive FD patients (9 female, 7 male; median age: 54 years, IQR 17) and 16 control patients (9 female, 7 male; median age: 52 years, IQR 20) were investigated at 1...
February 12, 2019: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://read.qxmd.com/read/30747363/a-29-year-old-woman-with-persistent-thrombocytopenia
#11
Irene Di Pasquale, Antonella Bertomoro, Fabrizio Vianello, Piero Marson, Francesca Boscaro, Fabrizio Fabris
No abstract text is available yet for this article.
February 12, 2019: Internal and Emergency Medicine
https://read.qxmd.com/read/30747154/early-decrease-in-the-podocalyxin-to-synaptopodin-ratio-in-urinary-fabry-podocytes
#12
Hernán Trimarchi, Romina Canzonieri, Cristian Costales-Collaguazo, Juan Politei, Anibal Stern, Matias Paulero, Ivan González-Hoyos, Amalia Schiel, Tatiana Rengel, Mariano Forrester, Fernando Lombi, Vanesa Pomeranz, Romina Iriarte, Alexis Muryan, Elsa Zotta
Background: In Fabry nephropathy, podocyturia is an early event that may lead to glomerulosclerosis and chronic kidney disease. The glycocalyx is a potential podocyte damaged compartment in glomerulopathies. We investigated glycocalyx podocalyxin in urinary detached podocytes compared with cytoplasmic synaptopodin. Methods: This was a cross-sectional study including 68 individuals: Controls ( n  = 20) and Fabry patients ( n  = 48), 15 untreated and 33 treated...
February 2019: Clinical Kidney Journal
https://read.qxmd.com/read/30747153/will-the-fabry-stabilization-index-make-its-way-to-everyday-clinical-practice
#13
Tereza Cairns, Christoph Wanner
Despite several attempts at setting up a standardized disease severity score for Fabry disease in the past, none have been established in routine clinical practice due to the multisystem nature and complexity of this inherited enzyme deficiency disorder. In this issue, Mignani et al . report a large multicentre application of the FASTEX, an online tool to assess disease progress over time that offers simple data inputting and graphic illustration of disease progression or stabilization. Mignani et al. succeeded in validating the tool in a large cohort of Fabry patients, including females and non-classical phenotypes, building on the first FASTEX introduction in 2016...
February 2019: Clinical Kidney Journal
https://read.qxmd.com/read/30746932/solution-processable-nanocrystal-based-broadband-fabry-perot-absorber-for-reflective-vivid-color-generation
#14
Soo-Jung Kim, Hyun-Kyung Choi, Heon Lee, Sung-Hoon Hong
Structural reflective colors based on Fabry-Perot (F-P) cavity resonances have attracted tremendous interest for diverse applications, such as color decoration and printing, display, and imaging devices. However, the asymmetric F-P cavity-based reflective colors proposed to date have low color purity and have difficulty to realize a desired vivid color because of a narrow absorption band characteristic in the visible light region. Here, a solution-processed, F-P ultra-broadband light absorber is newly proposed using a high lossy nanoporous material for vivid color generation...
February 12, 2019: ACS Applied Materials & Interfaces
https://read.qxmd.com/read/30746723/pharmacokinetics-pharmacodynamics-and-safety-of-moss-agalactosidase-a-in-patients-with-fabry-disease
#15
Julia B Hennermann, Laila Arash-Kaps, György Fekete, Andreas Schaaf, Andreas Busch, Thomas Frischmuth
Moss-aGalactosidase A (moss-aGal) is a moss-derived version of human α-galactosidase developed for enzyme replacement therapy in patients with Fabry disease. It exhibits a homogenous N-glycosylation profile with >90% mannose-terminated glycans. In contrast to mammalian cell produced α-galactosidase, moss-aGal does not rely on mannose-6-phosphate receptor mediated endocytosis but targets the mannose receptor for tissue uptake. We conducted a phase 1 clinical trial with moss-aGal in six patients with confirmed diagnosis of Fabry disease during a 28-day schedule...
January 12, 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30742184/correction-modulation-of-the-mechanical-energy-storage-performance-of-the-mil-47-v-iv-metal-organic-framework-by-ligand-functionalization
#16
Pascal G Yot, Mohammad Wahiduzzaman, Erik Elkaim, Pierre Fertey, Paul Fabry, Emmanuel Magnier, Thomas Devic, Christian Serre, Guillaume Maurin
Correction for 'Modulation of the mechanical energy storage performance of the MIL-47(VIV) metal organic framework by ligand functionalization' by Pascal G. Yot et al., Dalton Trans., 2019, DOI: 10.1039/c8dt04214d.
February 11, 2019: Dalton Transactions: An International Journal of Inorganic Chemistry
https://read.qxmd.com/read/30740407/lysosomal-storage-disease-overview
#17
REVIEW
Angela Sun
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses...
December 2018: Annals of Translational Medicine
https://read.qxmd.com/read/30739754/-hypertrophic-cardiomyopathies
#18
O Lairez
Hypertrophic cardiomyopathies represent a heterogeneous group of pathophysiological mechanisms and etiologies (genetic or not), which lead to the development of left ventricular hypertrophy. Left ventricular hypertrophy, when not explained by a significant and prolonged increase in post-load (such as severe poorly controlled arterial hypertension or severe aortic stenosis) justifies etiological exploration. The etiology may range from physiological adaptation in the athlete to myocardial involvement, isolated or integrated as part of a global neuromuscular involvement; metabolic or mitochondrial disease to deposition disease...
February 7, 2019: La Revue de Médecine Interne
https://read.qxmd.com/read/30739116/fabry-disease-prevalence-in-renal-replacement-therapy-in-turkey
#19
Serkan Feyyaz Yalın, Necmi Eren, Ayse Sinangil, Vural Taner Yilmaz, Erhan Tatar, Ali Riza Ucar, Mustafa Sevinc, Özgür Can, Alp Gurkan, Nurol Arik, Sabahat Alisir Ecder, Murathan Uyar, Murat Yasar, Sibel Gulcicek, Meral Mese, Hamad Dheir, Ulkem Cakir, Şimal Köksal Cevher, Kultigin Turkmen, Bahtisen Guven, Dilek Guven Taymez, Banu Erkalma Senates, Tevfik Ecder, Huseyin Kocak, Adam Uslu, Erol Demir, Taner Basturk, Melike Betul Ogutmen, Can Kinalp, Belda Dursun, Zerrin Bicik Bahcebasi, Savas Sipahi, Fatih Dede, Meric Oruc, Yasar Caliskan, Ahmed Genc, Berna Yelken, Mehmet Rıza Altıparmak, Aydin Turkmen, Nurhan Seyahi
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. OBJECTIVE: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. METHODS: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis...
February 8, 2019: Nephron
https://read.qxmd.com/read/30738278/misdiagnosis-of-multiple-sclerosis-in-a-female-heterozygote-with-fabry-s-disease
#20
Joseph R Berger
Fabry's disease is an X-linked disorder of enzyme alpha-galactosidase A which leads to an accumulation of the glycolipids in lysosomes in vessels and organs. The disorder is rare with an estimated incidence of 1 in 40,000 and disease occurs more rarely in women than men. Paresthesias, hearing loss, and stroke are the typical neurological manifestations. Brain magnetic resonance imaging abnormalities may mimic those seen in multiple sclerosis (MS). Reported here is one of the rarely reported cases of Fabry's disease in a female heterozygote mistaken for MS...
January 30, 2019: Multiple Sclerosis and related Disorders
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