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Fabry disease

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https://www.readbyqxmd.com/read/30023289/an-atypical-p-n215s-variant-of-fabry-disease-with-end-stage-renal-failure
#1
Max Sugarman, Jamil Choudhury, Ana Jovanovic
Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances, angiokeratoma, cornea verticillata renal failure, and cardiovascular disease. We describe two brothers exhibiting the GLA p.N215S mutation, a variant most often conferring a late-onset disease confined to the myocardium...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30018776/association-and-diagnostic-utility-of-diastolic-dysfunction-and-myocardial-fibrosis-in-patients-with-fabry-disease
#2
Dan Liu, Daniel Oder, Tim Salinger, Kai Hu, Jonas Müntze, Frank Weidemann, Sebastian Herrmann, Georg Ertl, Christoph Wanner, Stefan Frantz, Stefan Störk, Peter Nordbeck
Objectives: Current guidelines highlight important therapy implications of cardiac fibrosis in patients with Fabry disease (FD). However, association between morphological and functional impairments with cardiac fibrosis in hereditary cardiomyopathies remains elusive. We investigated the association between echocardiography-determined cardiac dysfunction and cardiac MRI (cMRI)-detected myocardial fibrosis (late gadolinium enhancement, LE) in patients with FD with preserved left ventricular ejection fraction (≥50%)...
2018: Open Heart
https://www.readbyqxmd.com/read/30017653/european-expert-consensus-statement-on-therapeutic-goals-in-fabry-disease
#3
REVIEW
Christoph Wanner, Michael Arad, Ralf Baron, Alessandro Burlina, Perry M Elliott, Ulla Feldt-Rasmussen, Victor V Fomin, Dominique P Germain, Derralynn A Hughes, Ana Jovanovic, Ilkka Kantola, Aleš Linhart, Renzo Mignani, Lorenzo Monserrat, Mehdi Namdar, Albina Nowak, João-Paulo Oliveira, Alberto Ortiz, Maurizio Pieroni, Marco Spada, Anna Tylki-Szymańska, Camilla Tøndel, Miguel Viana-Baptista, Frank Weidemann, Max J Hilz
BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease...
June 12, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/30013462/altered-gene-expression-in-prefrontal-cortex-of-a-fabry-disease-mouse-model
#4
Kai K Kummer, Theodora Kalpachidou, Miodrag Mitrić, Michiel Langeslag, Michaela Kress
Fabry disease is an X-chromosome linked hereditary disease that is caused by loss of function mutations in the α-galactosidase A (α-Gal A) gene, resulting in defective glycolipid degradation and subsequent accumulation of globotriaosylceramide (Gb3) in different tissues, including vascular endothelial cells and neurons in the peripheral and central nervous system. We recently reported a differential gene expression profile of α-Gal A(-/0) mouse dorsal root ganglia, an established animal model of Fabry disease, thereby providing new gene targets that might underlie the neuropathic pain related symptoms...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29987457/clinical-parameters-lysogb3-podocyturia-and-kidney-biopsy-in-children-with-fabry-disease-is-a-correlation-possible
#5
Juan Politei, Valeria Alberton, Oscar Amoreo, Norberto Antongiovanni, Maria Nieves Arán, Marcelo Barán, Gustavo Cabrera, Silvia Di Pietrantonio, Consuelo Durand, Alejandro Fainboim, Joaquin Frabasil, Fernando Gomez Pizarro, Roberto Iotti, Miguel Liern, Fernando Perretta, Diego Ripeau, Fernanda Toniolo, Hernan Trimarchi, Dana Velasques Rivas, Eric Wallace, Andrea Beatriz Schenone
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease. METHODS: A retrospective analysis was performed using charts from 14 children with confirmed diagnosis. Clinical parameters were evaluated. Globotriaosylsphingosine -lysoGb3- detection in plasma, podocyturia, and kidney biopsy were carried out in all cases...
July 9, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29986930/association-of-low-lysosomal-enzymes-activity-with-brain-arterial-dilatation-a-pilot-study
#6
Harsh Shah, Christopher Liong, Oren A Levy, Cheryl Waters, Stanley Fahn, Karen Marder, Un J Kang, Pavlina Wolf, Petra Oliva, Kate Zhang, Roy N Alcalay, Jose Gutierrez
BACKGROUND AND PURPOSE: Absent or diminished α-galactosidase A (GLA) and acid α-glucosidase (GAA) enzyme activity are core features of Fabry and Pompe disease, respectively. Patients with Fabry or Pompe disease may have dilated intracranial arteries but whether lower GLA or GAA enzyme activity relates to brain arterial dilatation in other populations is unknown. METHODS: Participants included Parkinson disease patients and nonblood-related controls, whose GLA and GAA enzymatic activities were measured in dried blood spots...
July 9, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29984754/a-cardiac-variant-of-fabry-disease-diagnosed-with-chance-urinary-mulberry-cells
#7
Rina Onishi, Koshiro Kanaoka, Junichi Sugiura, Motoko Tokunaga, Yasuhiro Takemoto, Kenji Onoue, Yuta Yamamoto, Manabu Horii, Yoshihiko Saito
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease...
July 6, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29982630/glucosylceramide-synthase-inhibition-with-lucerastat-lowers-globotriaosylceramide-and-lysosome-staining-in-cultured-fibroblasts-from-fabry-patients-with-different-mutation-types
#8
R W D Welford, A Mühlemann, M Garzotti, V Rickert, P M A Groenen, O Morand, N Üçeyler, M R Probst
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation of α-GalA substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine. Progressive glycolipid storage results in cellular dysfunction, leading to organ damage and clinical disease, i.e. neuropathic pain, impaired renal function and cardiomyopathy. Many Fabry patients are treated by bi-weekly intravenous infusions of replacement enzyme...
July 5, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29979634/%C3%AE-galactosidase-a-deficient-rats-accumulate-glycosphingolipids-and-develop-cardiorenal-phenotypes-of-fabry-disease
#9
James J Miller, Kazuhiro Aoki, Carly A Mascari, Angela K Beltrame, Olayemi Sokumbi, Paula E North, Michael Tiemeyer, Alison J Kriegel, Nancy M Dahms
Fabry disease is an X-linked lysosomal storage disease caused by α-galactosidase A (α-Gal A) deficiency. Kidney and heart failure are frequent complications in adulthood and greatly contribute to patient morbidity and mortality. Because α-Gal A-deficient mouse models do not recapitulate cardiorenal findings observed in patients, a nonmouse model may be beneficial to our understanding of disease pathogenesis. In this study, we evaluated disease processes in a recently generated Fabry rat model. We found that male Fabry rats weighed significantly less than wild-type (WT) males, whereas female Fabry rats weighed significantly more than WT females...
July 6, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29975154/clinical-application-and-technical-considerations-of-t1-t2-mapping-in-cardiac-liver-and-renal-imaging
#10
Ilona A Dekkers, Hildo J Lamb
Pathological tissue alterations due to disease processes such as fibrosis, edema and infiltrative disease can be non-invasively visualized and quantified by magnetic resonance imaging using T1 and T2 relaxation properties. Pixel-wise mapping of T1 and T2 image sequences enable direct quantification of T1, T2(*), and extra-cellular volume (ECV) values of the target organ of interest. Tissue characterization based on T1 and T2(*) mapping is currently making the transition from a research tool to a clinical modality, as clinical usefulness has been established for several diseases such as myocarditis, amyloidosis, Anderson-Fabry and iron deposition,...
July 5, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29974530/detecton-of-blood-gb3-deposits-as-a-new-tool-for-diagnosis-and-therapy-monitoring-in-patients-with-classic-fabry-disease
#11
N Üçeyler, J Böttger, L Henkel, M Langjahr, C Mayer, P Nordbeck, C Wanner, C Sommer
BACKGROUND: The X-linked Fabry disease (FD) is a multiorgan disorder due to alpha-galactosidase A (α-GAL) deficiency with consequent lysosomal accumulation of globotriaosylceramide (Gb3). We established the immunocytochemical detection of Gb3 in blood cells of FD patients as a new method for FD diagnostics, follow-up and treatment control. METHODS: We enrolled 67 FD patients (37 men, 30 women) and 52 healthy controls (26 men, 26 women). PBMC were isolated from whole venous blood and 3x105 cells were immunoreacted with antibodies against CD77 as a marker for Gb3...
July 4, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29959806/severe-bradyarrhythmia-linked-to-left-atrial-dysfunction-in-fabry-disease-a-cross-sectional-study-cross-sectional-analysis-of-the-clinical-electrocardiographic-and-echocardiographic-determinants-of-bradyarrhythmic-events-in-patients-with-fabry-disease-the-impact
#12
Lu Zhao Di, Maxime Pichette, Réginald Nadeau, Daniel G Bichet, Frédéric Poulin
BACKGROUND: Fabry disease (FD) is a lysosomal storage disorder caused by an enzymatic deficiency. Conduction abnormalities and bradyarrhythmias are common and can occur prior to the onset of left ventricular (LV) hypertrophy. We aimed to describe the clinical, electrocardiographic and echocardiographic, including left atrial (LA) function, determinants of bradyarrhythmic events in FD. METHODS: We designed a cross-sectional study that includes 53 FD patients (mean age, 45 years; 42% male)...
June 30, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29959236/regional-distribution-of-cns-antigens-differentially-determines-t-cell-mediated-neuroinflammation-in-a-cx3cr1-dependent-manner
#13
Aditya Rayasam, Julie A Kijak, McKenna Dallmann, Martin Hsu, Nicole Zindl, Anders Lindstedt, Leah Steinmetz, Jeffrey S Harding, Melissa G Harris, Jozsef Karman, Matyas Sandor, Zsuzsanna Fabry
T cells continuously sample central nervous system (CNS) derived antigens in the periphery, yet it is unknown how they sample and respond to CNS antigens derived from distinct brain areas. We expressed ovalbumin (OVA) neoepitopes in regionally distinct CNS areas (Cnp-OVA and Nes-OVA mice) to test peripheral antigen sampling by OVA-specific T cells under homeostatic and neuroinflammatory conditions. We show that antigen sampling in the periphery is independent of regional origin of CNS antigens in both male and female mice...
June 29, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29954050/role-of-handheld-in-vivo-reflectance-confocal-microscopy-for-the-diagnosis-of-fabry-disease-a-case-report
#14
Elisa Cinotti, Luca Provvidenziale, Michele Fimiani, Jean Luc Perrot, Frederic Cambazard, Pietro Rubegni
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase that leads to a systemic accumulation of globotriaosylceramide. Handheld in vivo reflectance confocal microscopy (HH-RCM) is a useful modern technique in diagnosis and follow-ups of many skin diseases. This noninvasive device provides high-resolution and high-contrast real-time images to study both the skin and the ocular surface structures that can help clinicians to confirm the diagnosis of FD...
June 27, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29950951/major-organic-involvement-in-women-with-fabry-disease-in-argentina
#15
Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Thirty-five women with FD from three reference centers in Argentina were evaluated...
2018: TheScientificWorldJournal
https://www.readbyqxmd.com/read/29937989/a-pilot-study-of-circulating-micrornas-as-potential-biomarkers-of-fabry-disease
#16
Giuseppe Cammarata, Simone Scalia, Paolo Colomba, Carmela Zizzo, Antonio Pisani, Eleonora Riccio, Michaela Montalbano, Riccardo Alessandro, Antonello Giordano, Giovanni Duro
Patients suffering from Fabry disease (FD), a lysosomal storage disorder, show a broad range of symptoms and the diagnosis followed by the therapeutic decision remains a great challenge. The biomarkers available today have not proven to be useful for predicting the evolution of the disease and for assessing response to therapy in many patients. Here, we used high-throughput microRNA profiling methodology to identify a specific circulating microRNA profile in FD patients. We discovered a pattern of 10 microRNAs able to identify FD patients when compared to healthy controls...
June 8, 2018: Oncotarget
https://www.readbyqxmd.com/read/29935990/comparison-of-cardiac-magnetic-resonance-imaging-and-echocardiography-in-assessment-of-left-ventricular-hypertrophy-in-fabry-disease
#17
Hassan Hazari, Israel Belenkie, Albert Kryski, James A White, Gavin Y Oudit, Richard Thompson, Tak Fung, Navdeep Dehar, Aneal Khan
BACKGROUND: Cardiac hypertrophy in Fabry disease can be assessed using the left ventricular mass index (LVMI) with either echocardiography (LVMI-ECHO) or magnetic resonance imaging (LVMI-CMR). METHODS: A retrospective case series of patients with Fabry disease in Alberta involved a cross-sectional analysis of 32 patients and a longitudinal analysis of 14 of these patients with at least 4 serial CMR measurements. RESULTS: The cross-sectional analysis showed the mean LVMI-ECHO was 97...
March 29, 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29927462/cd77-levels-over-enzyme-replacement-treatment-in-fabry-disease-family-v269m
#18
Ester Miranda Pereira, Adalberto Socorro da Silva, Raimundo Nonato da Silva, José Tiburcio Monte Neto, Fernando F do Nascimento, Jackeline L M Sousa, Henrique César Saraiva de Arêa Leão Costa Filho, Herton Luiz Alves Sales Filho, Anatalia Labilloy, Semiramis Jamil Hadad do Monte
INTRODUCTION: Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme α-galactosidase A (α-GAL). Reduced α-GAL activity leads to progressive accumulation of globotriaosylceramide (Gb3), also known as CD77. The recent report of increased expression of CD77 in blood cells of patients with FD indicated that this molecule can be used as a potential marker for monitoring enzyme replacement therapy (ERT). OBJECTIVE: The purpose of this study was to evaluate the CD77 levels throughout ERT in FD patients (V269M mutation)...
June 4, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29924222/genital-angiokeratoma-in-a-woman-with-fabry-disease-the-dermatologist-s-role
#19
Patricia Moraes Resende de Jesus, Ana Maria Martins, Nilton Di Chiacchio, Carolina Sanchez Aranda
Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease...
June 2018: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29911009/diagnostic-clues-for-the-diagnosis-of-nonsarcomeric-hypertrophic-cardiomyopathy-phenocopies-amyloidosis-fabry-disease-and-mitochondrial-disease
#20
Giuseppe Limongelli, Daniele Masarone, Marina Verrengia, Rita Gravino, Gemma Salerno, Silvia Castelletti, Marta Rubino, Tommaso Marrazzo, Antonio Pisani, Franco Cecchi, Perry Mark Elliott, Giuseppe Pacileo
Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1:500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopies) in about 10%-15% of the patients. Early diagnosis of storage and infiltrative disorders, particularly those with specific treatments (i.e., Fabry disease and/or amyloidosis), means early management and treatment, with a significant impact on patients prognosis...
April 2018: Journal of Cardiovascular Echography
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