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Anderson Fabry Disease

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https://www.readbyqxmd.com/read/28992817/clinical-recommendations-for-cardiovascular-magnetic-resonance-mapping-of-t1-t2-t2-and-extracellular-volume-a-consensus-statement-by-the-society-for-cardiovascular-magnetic-resonance-scmr-endorsed-by-the-european-association-for-cardiovascular-imaging-eacvi
#1
REVIEW
Daniel R Messroghli, James C Moon, Vanessa M Ferreira, Lars Grosse-Wortmann, Taigang He, Peter Kellman, Julia Mascherbauer, Reza Nezafat, Michael Salerno, Erik B Schelbert, Andrew J Taylor, Richard Thompson, Martin Ugander, Ruud B van Heeswijk, Matthias G Friedrich
Parametric mapping techniques provide a non-invasive tool for quantifying tissue alterations in myocardial disease in those eligible for cardiovascular magnetic resonance (CMR). Parametric mapping with CMR now permits the routine spatial visualization and quantification of changes in myocardial composition based on changes in T1, T2, and T2*(star) relaxation times and extracellular volume (ECV). These changes include specific disease pathways related to mainly intracellular disturbances of the cardiomyocyte (e...
October 9, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28977874/inter-familial-and-intra-familial-phenotypic-variability-in-three-sicilian-families-with-anderson-fabry-disease
#2
Antonino Tuttolomondo, Irene Simonetta, Giovanni Duro, Rosaria Pecoraro, Salvatore Miceli, Paolo Colomba, Carmela Zizzo, Antonia Nucera, Mario Daidone, Tiziana Di Chiara, Rosario Scaglione, Vittoriano Della Corte, Francesca Corpora, Danai Vogiatzis, Antonio Pinto
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28954631/measurement-of-myocardial-native-t1-in-cardiovascular-diseases-and-norm-in-1291-subjects
#3
Joanna M Liu, Alexander Liu, Joana Leal, Fiona McMillan, Jane Francis, Andreas Greiser, Oliver J Rider, Saul Myerson, Stefan Neubauer, Vanessa M Ferreira, Stefan K Piechnik
BACKGROUND: Native T1-mapping provides quantitative myocardial tissue characterization for cardiovascular diseases (CVD), without the need for gadolinium. However, its translation into clinical practice is hindered by differences between techniques and the lack of established reference values. We provide typical myocardial T1-ranges for 18 commonly encountered CVDs using a single T1-mapping technique - Shortened Look-Locker Inversion Recovery (ShMOLLI), also used in the large UK Biobank and Hypertrophic Cardiomyopathy Registry study...
September 28, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28936893/severe-hypertrophic-cardiomyopathy-in-a-patient-with-atypical-anderson-fabry-disease
#4
Daniele Masarone, Giovanni Duro, Santo Dellegrottaglie, Paolo Colomba, Marta Rubino, Annapaola Cirillo, Antonio Pisani, Martina Caiazza, Perry Mark Elliott, Paolo Calabrò, Giuseppe Pacileo, Giuseppe Limongelli
AIM: Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death. Case example: A case of AFD with exclusive cardiac involvement is described. During follow-up, due to the high risk of life-threatening arrhythmic events, implantation of an implantable cardioverter defibrillator is performed...
September 22, 2017: Future Cardiology
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#5
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28821638/fluorescent-probes-for-selective-protein-labeling-in-lysosomes-a-case-of-%C3%AE-galactosidase-a
#6
Cornelius Bohl, Adam Pomorski, Susanne Seemann, Anne-Marie Knospe, Chaonan Zheng, Artur Krężel, Arndt Rolfs, Jan Lukas
Fluorescence-based live-cell imaging (LCI) of lysosomal glycosidases is often hampered by unfavorable pH and redox conditions that reduce fluorescence output. Moreover, most lysosomal glycosidases are low-mass soluble proteins that do not allow for bulky fluorescent protein fusions. We selected α-galactosidase A (GALA) as a model lysosomal glycosidase involved in Anderson-Fabry disease (AFD) for the current LCI approach. Examination of the subcellular localization of AFD-causing mutants can reveal the mechanism underlying cellular trafficking deficits...
August 15, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28813699/t1-and-t2-mapping-in-cardiology-mapping-the-obscure-object-of-desire
#7
Sophie Mavrogeni, Dimitris Apostolou, Panayiotis Argyriou, Stella Velitsista, Lilika Papa, Stelios Efentakis, Evangelos Vernardos, Mikela Kanoupaki, George Kanoupakis, Athanassios Manginas
The increasing use of cardiovascular magnetic resonance (CMR) is based on its capability to perform biventricular function assessment and tissue characterization without radiation and with high reproducibility. The use of late gadolinium enhancement (LGE) gave the potential of non-invasive biopsy for fibrosis quantification. However, LGE is unable to detect diffuse myocardial disease. Native T1 mapping and extracellular volume fraction (ECV) provide knowledge about pathologies affecting both the myocardium and interstitium that is otherwise difficult to identify...
August 17, 2017: Cardiology
https://www.readbyqxmd.com/read/28793143/intraoperative-diagnosis-of-anderson-fabry-disease-in-patients-with-obstructive-hypertrophic-cardiomyopathy-undergoing-surgical-myectomy
#8
Franco Cecchi, Maria Iascone, Niccolò Maurizi, Laura Pezzoli, Irene Binaco, Elena Biagini, Maria Laura Fibbi, Iacopo Olivotto, Federico Pieruzzi, Ana Fruntelata, Lucian Dorobantu, Claudio Rapezzi, Paolo Ferrazzi
Importance: Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. Objective: To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations...
October 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28733764/cardiac-sympathetic-neuronal-damage-precedes-myocardial-fibrosis-in-patients-with-anderson-fabry-disease
#9
Massimo Imbriaco, Teresa Pellegrino, Valentina Piscopo, Mario Petretta, Andrea Ponsiglione, Carmela Nappi, Marta Puglia, Serena Dell'Aversana, Eleonora Riccio, Letizia Spinelli, Antonio Pisani, Alberto Cuocolo
PURPOSE: Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by (123)I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. METHODS: Cardiac sympathetic innervation was assessed by (123)I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD...
December 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28668140/clinical-features-diagnosis-and-management-of-patients-with-anderson-fabry-cardiomyopathy
#10
REVIEW
Haran Yogasundaram, Daniel Kim, Omar Oudit, Richard B Thompson, Frank Weidemann, Gavin Y Oudit
Anderson-Fabry disease (AFD) is an X-linked recessive, multisystem disease of lysosomal storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in its deficiency, or complete absence of activity. Subsequent progressive intracellular accumulation of glycosphingolipids, predominantly globotriaosylceramide, in various tissues, results in progressive organ dysfunction and failure, most commonly affecting the kidneys, nervous system, skin, eyes, vascular endothelium, and the heart...
July 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28615537/inter-familial-and-intra-familial-phenotypic-variability-in-three-sicilian-families-with-anderson-fabry-disease
#11
Antonino Tuttolomondo, Irene Simonetta, Giovanni Duro, Rosaria Pecoraro, Salvatore Miceli, Paolo Colomba, Carmela Zizzo, Antonia Nucera, Mario Daidone, Tiziana Di Chiara, Rosario Scaglione, Vittoriano Della Corte, Francesca Corpora, Danai Vogiatzis, Antonio Pinto
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females...
May 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28608328/towards-accurate-and-precise-t-1-and-extracellular-volume-mapping-in-the-myocardium-a-guide-to-current-pitfalls-and-their-solutions
#12
REVIEW
Donnie Cameron, Vassilios S Vassiliou, David M Higgins, Peter D Gatehouse
Mapping of the longitudinal relaxation time (T 1) and extracellular volume (ECV) offers a means of identifying pathological changes in myocardial tissue, including diffuse changes that may be invisible to existing T 1-weighted methods. This technique has recently shown strong clinical utility for pathologies such as Anderson-Fabry disease and amyloidosis and has generated clinical interest as a possible means of detecting small changes in diffuse fibrosis; however, scatter in T 1 and ECV estimates offers challenges for detecting these changes, and bias limits comparisons between sites and vendors...
June 12, 2017: Magma
https://www.readbyqxmd.com/read/28550929/arrhythmia-and-clinical-cardiac-findings-in-children-with-anderson-fabry-disease
#13
Hunter C Wilson, Robert J Hopkin, Peace C Madueme, Richard J Czosek, Laurie A Bailey, Michael D Taylor, John L Jefferies
Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9...
July 15, 2017: American Journal of Cardiology
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
#14
REVIEW
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/28251514/human-induced-pluripotent-stem-cell-based-modeling-of-cardiac-storage-disorders
#15
REVIEW
Bradley C Nelson, Sherin I Hashem, Eric D Adler
PURPOSE OF REVIEW: The aim of this study is to review the published human-induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) models of cardiac storage disorders and to evaluate the limitations and future applications of this technology. RECENT FINDINGS: Several cardiac storage disorders (CSDs) have been modeled using patient-specific hiPSC-CMs, including Anderson-Fabry disease, Danon disease, and Pompe disease. These models have shown that patient-specific hiPSC-CMs faithfully recapitulate key phenotypic features of CSDs and respond predictably to pharmacologic manipulation...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28104284/-fabry-disease
#16
F Stephan, R Haber
Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease...
February 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28069318/right-ventricular-hypertrophy-systolic-function-and-disease-severity-in-anderson-fabry-disease-an-echocardiographic-study
#17
Francesca Graziani, Marianna Laurito, Maurizio Pieroni, Faustino Pennestrì, Gaetano Antonio Lanza, Valentina Coluccia, Antonia Camporeale, Daniela Pedicino, Elena Verrecchia, Raffaele Manna, Filippo Crea
BACKGROUND: Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies. METHODS: Detailed echocardiographic examinations were performed in 45 patients with AFD. FC, defined as maximal left ventricular wall thickness ≥ 15 mm, was present in 12...
March 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/27974158/clinicopathological-features-of-cardiac-glycolipid-storage-disease-in-an-adult-pug
#18
J N S N Tran, K J Ash, S V Seshan, K M Kelly
A 12-year-old neutered male pug suffered cardiac arrest and died under general anaesthesia during diagnostic imaging for evaluation of exercise intolerance and respiratory crisis. Histopathological evaluation revealed two types of storage material, glycolipid and lipopigment, having differential distributions in multiple organs. The heart was most strikingly affected and other less affected tissues included the liver, brain, kidneys and skin. Cardiomyocytes were swollen with extensive sarcoplasmic vacuolation together with coalescing areas of myocardial fibrosis...
February 2017: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27960019/-glomerular-lipidosis
#19
Sandro Feriozzi
Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis...
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27799574/segment-by-segment-assessment-of-left-ventricular-myocardial-affection-in-anderson-fabry-disease-by-non-enhanced-t1-mapping
#20
Thula C Walter, Gesine Knobloch, Sima Canaan-Kuehl, Andreas Greiser, Anja Sandek, Daniela Blaschke, Timm Denecke, Bernd Hamm, Marcus R Makowski
Background Anderson-Fabry disease (AFD) is an X-linked lysosomal enzyme disorder associated with an intracellular accumulation of sphingolipids, which shorten myocardial T1 relaxation times. Myocardial affection, however, varies between different segments. Purpose To evaluate the specific segmental distribution and degree of segmental affection in AFD patients. Material and Methods Twenty-five patients with AFD, 14 patients with hypertrophic cardiomyopathy (HCM), and 21 controls were included. A Modified Look-Locker Inversion Recovery sequence (MOLLI) was used for non-enhanced T1 mapping at 1...
January 1, 2016: Acta Radiologica
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