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Fabry's disease

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https://www.readbyqxmd.com/read/29778854/proposed-stages-of-myocardial-phenotype-development-in-fabry-disease
#1
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/29772037/a-review-of-fabry-disease
#2
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
#3
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/29755794/time-of-anderson-fabry-disease-detection-and-cardiovascular-presentation
#4
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/29753731/animal-models-of-cholangiocarcinoma-what-they-teach-us-about-the-human-disease
#5
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
https://www.readbyqxmd.com/read/29752903/mulberry-bodies-fabry-disease
#6
Hiroki Matsuura, Kenichiro Asano
No abstract text is available yet for this article.
May 9, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29750121/-in-vivo-confocal-microscopic-observations-of-vortex-keratopathy-in-patients-with-amiodarone-induced-keratopathy-and-fabry-disease
#7
Yasuhito Ikegawa, Atsushi Shiraishi, Yasuhito Hayashi, Akiyoshi Ogimoto, Yuichi Ohashi
Purpose: To compare the morphology of two types of vortex keratopathy: amiodarone-induced keratopathy and the Fabry disease-associated keratopathy. Patients and Methods: Eight patients who were receiving oral amiodarone therapy and 3 patients with Fabry disease, a mother and her 2 daughters, were examined by slit-lamp biomicroscopy and in vivo confocal microscopy (IVCM) regularly. Results: Amiodarone-induced keratopathy developed in 7 of the 8 patients, and it was detected as early as 7 days by IVCM and 14 days by slit-lamp biomicroscopy...
2018: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29747997/the-beneficial-effects-of-long-term-enzyme-replacement-therapy-on-cardiac-involvement-in-japanese-fabry-patients
#8
Kenichi Hongo, Keiichi Ito, Taro Date, Ikuko Anan, Yasunori Inoue, Satoshi Morimoto, Kazuo Ogawa, Makoto Kawai, Hiroshi Kobayashi, Masahisa Kobayashi, Hiroyuki Ida, Toya Ohashi, Ikuo Taniguchi, Michihiro Yoshimura, Yoshikatsu Eto
Fabry disease is a hereditary disorder that occurs due to the reduction or absence of alpha-galactosidase A activity, which leads to cardiac involvement including left ventricular hypertrophy (LVH). Enzyme replacement therapy (ERT) provides better patient outcomes by preventing serious complications. However, there have been very few studies on the long-term effects of ERT on the cardiac manifestations in Japanese Fabry patients. We retrospectively analyzed the data from the medical records of 42 Fabry patients (male, n = 17; female, n = 25) who were followed at Jikei University Hospital, and in whom the long-term effects of ERT could be evaluated (median follow-up period: male, 11 years; female, 8 years)...
April 26, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29739751/dynamic-nuclear-envelope-phenotype-in-rats-overexpressing-mutated-human-torsina-protein
#9
Libo Yu-Taeger, Viktoria Gaiser, Larissa Lotzer, Tina Roenisch, Benedikt Timo Fabry, Janice Stricker-Shaver, Nicolas Casadei, Michael Walter, Martin Schaller, Olaf Riess, Huu Phuc Nguyen, Thomas Ott, Kathrin Grundmann-Hauser
A three-base-pair deletion in the human TOR1A gene is causative for the most common form of primary dystonia, the early-onset dystonia type 1 (DYT1 dystonia). The pathophysiological consequences of this mutation are still unknown.To study the pathology of the mutant torsinA (TOR1A) protein, we have generated a transgenic rat line that overexpresses the human mutant protein under the control of the human TOR1A promoter. This new animal model was phenotyped with several approaches, including behavioral tests and neuropathological analyses...
May 8, 2018: Biology Open
https://www.readbyqxmd.com/read/29735288/clinical-practice-guidelines-for-the-treatment-of-systemic-lupus-erythematosus-by-the-mexican-college-of-rheumatology
#10
Daniel Xibillé-Friedmann, Marcela Pérez-Rodríguez, Sandra Carrillo-Vázquez, Everardo Álvarez-Hernández, Francisco Javier Aceves, Mario C Ocampo-Torres, Conrado García-García, José Luis García-Figueroa, Javier Merayo-Chalico, Ana Barrera-Vargas, Margarita Portela-Hernández, Sandra Sicsik, Lilia Andrade-Ortega, Víctor Manuel Rosales-Don Pablo, Aline Martínez, Pilar Prieto-Seyffert, Mario Pérez-Cristóbal, Miguel Ángel Saavedra, Zully Castro-Colín, Azucena Ramos, Gabriela Huerta-Sil, María Fernanda Hernández-Cabrera, Luis Javier Jara, Leonardo Limón-Camacho, Lizbet Tinajero-Nieto, Leonor A Barile-Fabris
There are national and international clinical practice guidelines for systemic lupus erythematosus treatment. Nonetheless, most of them are not designed for the Mexican population or are devoted only to the treatment of certain disease manifestations, like lupus nephritis, or are designed for some physiological state like pregnancy. The Mexican College of Rheumatology aimed to create clinical practice guidelines that included the majority of the manifestations of systemic lupus erythematosus, and also incorporated guidelines in controversial situations like vaccination and the perioperative period...
May 4, 2018: Reumatología Clinica
https://www.readbyqxmd.com/read/29732925/new-genetically-engineered-dfs70-knock-out-hep-2-cells-enable-rapid-and-specific-recognition-of-anti-dfs70-antibodies
#11
Nicola Bizzaro, Martina Fabris
BACKGROUND: The correct identification of anti-dense fine speckled-70 (DFS70) antibodies represents an important issue in the detection of anti-nuclear antibodies (ANAs) as performed by the indirect immunofluorescence (IIF) test on HEp-2 substrates. In this study, we have evaluated a new method for anti-DFS70 antibody detection employing HEp-2 cells knocked-out for the DFS70 antigen. METHODS: We studied 148 sera with a DFS70-like pattern (91 positive and 57 negative when tested for anti-DFS70 antibodies by a specific chemoluminescence [CLIA] method); 116 sera with infectious disease; 100 healthy donors (HDs), 139 samples from patients with a defined diagnosis of autoimmune rheumatic disease (ARD), and 242 consecutive unselected samples screened for ANA during the routine work-up...
May 6, 2018: Autoimmunity
https://www.readbyqxmd.com/read/29724657/therapeutic-goals-in-fabry-disease-recommendations-of-a-european-expert-panel-based-on-current-clinical-evidence-with-enzyme-replacement-therapy
#12
Christoph Wanner, Dominique P Germain, Max J Hilz, Marco Spada, Bruno Falissard, Perry M Elliott
No abstract text is available yet for this article.
April 11, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29713479/pulmonary-involvement-in-fabry-disease-effect-of-plasma-globotriaosylsphingosine-and-time-to-initiation-of-enzyme-replacement-therapy
#13
Daniel Franzen, Sarah R Haile, David C Kasper, Thomas P Mechtler, Andreas J Flammer, Pierre A Krayenbühl, Albina Nowak
Introduction: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Plasma Lyso-Gb3 levels serve as a disease severity and treatment monitoring marker during enzyme replacement therapy (ERT). Methods: Adult patients with AFD who had yearly pulmonary function tests between 1999 and 2015 were eligible for this observational study...
2018: BMJ Open Respiratory Research
https://www.readbyqxmd.com/read/29703262/migalastat-improves-diarrhea-in-patients-with-fabry-disease-clinical-biomarker-correlations-from-the-phase-3-facets-trial
#14
Raphael Schiffmann, Daniel G Bichet, Ana Jovanovic, Derralynn A Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P Shankar, Laura Barisoni, Robert B Colvin, J Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P Castelli, Nina Skuban, Jay A Barth, Kathleen Nicholls
BACKGROUND: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations. METHODS: We evaluated minimal clinically important differences (MCID) in diarrhea based on the corresponding domain of the patient-reported Gastrointestinal Symptom Rating Scale (GSRS) in patients with Fabry disease and amenable mutations (N = 50) treated with migalastat 150 mg every other day or placebo during the phase 3 FACETS trial (NCT00925301)...
April 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29698600/development-and-analytical-characterization-of-pegunigalsidase-alfa-a-chemically-crosslinked-plant-recombinant-human-%C3%AE-galactosidase-a-for-treatment-of-fabry-disease
#15
Ilya Ruderfer, Avidor Shulman, Tali Kizhner, Yaniv Azulay, Yakir Nataf, Yoram Tekoah, Yoseph Shaaltiel
The current treatment of Fabry disease by Enzyme Replacement Therapy with commercially available recombinant human α-Galactosidase A shows a continuous deterioration of the disease patients. Human recombinant α-Galactosidase A is a homodimer with noncovalently bound subunits and is expressed in the ProCellEx® plant cell-based protein expression platform to produce pegunigalsidase alfa. The effect of covalent bonding between two α-Galactosidase A subunits by PEG-based crosslinkers of various lengths was evaluated in this study...
April 26, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29688998/persistent-alpha-galactosidase-a-deficiency-following-simultaneous-liver-kidney-transplantation-in-a-patient-with-fabry-disease
#16
Alisa Likhitsup, John H Helzberg, Laura M Alba, Meghan K Larkin, Lee S Cummings, Eddie R Island, Ryan M Lustig, Jameson Forster
No abstract text is available yet for this article.
April 23, 2018: Transplantation
https://www.readbyqxmd.com/read/29688992/long-term-outcomes-of-kidney-transplantation-in-fabry-disease
#17
Sara Ersözlü, Robert J Desnick, Uyen Huynh-Do, Sima Canaan-Kühl, Frédéric Barbey, Vera Genitsch, Thomas Müller, Marcus Cheetham, Andreas Flammer, Stefan Schaub, Albina Nowak
BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity. This results in the systemic accumulation of its glycosphingolipid substrates in body fluids and organs, including the kidney. Fabry nephropathy can lead to end-stage renal disease requiring kidney transplantation. Little is known about its long-term outcomes and the overall patient survival after kidney transplantation...
April 24, 2018: Transplantation
https://www.readbyqxmd.com/read/29688154/use-of-myocardial-t1-mapping-at-3-0-t-to-differentiate-anderson-fabry-disease-from-hypertrophic-cardiomyopathy
#18
Gauri R Karur, Sean Robison, Robert M Iwanochko, Chantal F Morel, Andrew M Crean, Paaladinesh Thavendiranathan, Elsie T Nguyen, Shobhit Mathur, Syed Wasim, Kate Hanneman
Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond age, sex, and conventional imaging features. Materials and Methods For this prospective study, 30 patients with gene-positive AFD (37% male; mean age ± standard deviation, 45.0 years ± 14.1) and 30 patients with HCM (57% male; mean age, 49.3 years ± 13.5) were prospectively recruited between June 2016 and September 2017 to undergo cardiac MR imaging T1 mapping with a modified Look-Locker inversion recovery (MOLLI) acquisition scheme at 3...
April 24, 2018: Radiology
https://www.readbyqxmd.com/read/29674318/nicotiana-benthamiana-%C3%AE-galactosidase-a1-1-can-functionally-complement-human-%C3%AE-galactosidase-a-deficiency-associated-with-fabry-disease
#19
Kassiani Kytidou, Jules Beekwilder, Marta Artola, Eline van Meel, Ruud H P Wilbers, Geri F Moolenaar, Nora Goosen, Maria J Ferraz, Rebecca Katzy, Patrick Voskamp, Bogdan I Florea, Cornelis H Hokke, Herman S Overkleeft, Arjen Schots, Dirk Bosch, Navraj Pannu, Johannes M F G Aerts
α-Galactosidases (EC 3.2.1.22) are retaining glycosidases that cleave terminal α-linked galactose residues from glycoconjugate substrates. α-Galactosidases take part in the turnover of cell wall-associated galactomannans in plants and in the lysosomal degradation of glycosphingolipids in animals. Deficiency of human α-galactosidase A (α-Gal A) causes Fabry disease (FD), a heritable, X-linked lysosomal storage disorder, characterized by accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3)...
April 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29662006/hyperinsulinemia-promotes-esophageal-cancer-development-in-a-surgically-induced-duodeno-esophageal-reflux-murine-model
#20
Diletta Arcidiacono, Arben Dedja, Cinzia Giacometti, Matteo Fassan, Daniele Nucci, Simona Francia, Federico Fabris, Alice Zaramella, Emily J Gallagher, Mauro Cassaro, Massimo Rugge, Derek LeRoith, Alfredo Alberti, Stefano Realdon
Hyperinsulinemia could have a role in the growing incidence of esophageal adenocarcinoma (EAC) and its pre-cancerous lesion, Barrett's Esophagus, a possible consequence of Gastro-Esophageal Reflux Disease. Obesity is known to mediate esophageal carcinogenesis through different mechanisms including insulin-resistance leading to hyperinsulinemia, which may mediate cancer progression via the insulin/insulin-like growth factor axis. We used the hyperinsulinemic non-obese FVB/N (Friend leukemia virus B strain) MKR (muscle (M)-IGF1R-lysine (K)-arginine (R) mouse model to evaluate the exclusive role of hyperinsulinemia in the pathogenesis of EAC related to duodeno-esophageal reflux...
April 14, 2018: International Journal of Molecular Sciences
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