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Fabry's disease

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https://www.readbyqxmd.com/read/29161295/cardiac-and-renal-dysfunction-is-associated-with-progressive-hearing-loss-in-patients-with-fabry-disease
#1
Maria Köping, Wafaa Shehata-Dieler, Mario Cebulla, Kristen Rak, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen, Sebastian Schraven
BACKGROUND: Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. OBJECTIVE: To examine hearing loss in patients with FD depending on cardiac and renal function...
2017: PloS One
https://www.readbyqxmd.com/read/29159076/parkinson-s-disease-prevalence-in-fabry-disease-a-survey-study
#2
Adina H Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J Desnick, Roy N Alcalay
Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Two of the Fabry disease patients who completed the online survey were diagnosed with PD (2/90, 2...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#3
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#4
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#5
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29140564/%C3%AE-catenin-and-il-1%C3%AE-dependent-cxcl10-production-drives-progression-of-disease-in-a-mouse-model-of-congenital-hepatic-fibrosis
#6
Eleanna Kaffe, Romina Fiorotto, Francesca Pellegrino, Valeria Mariotti, Mariangela Amenduni, Massimiliano Cadamuro, Luca Fabris, Mario Strazzabosco, Carlo Spirli
Congenital Hepatic Fibrosis (CHF), a genetic disease caused by mutations in the PKHD1 gene, encoding for the protein fibrocystin (FPC), is characterized by biliary dysgenesis, progressive portal fibrosis, and by a PKA-mediated activating phosphorylation of β-Catenin at Ser675. Biliary structures of Pkhd1(del4/del4) mice, a mouse model of CHF, secrete CXCL10 a chemokine able to recruit macrophages. The aim of this study is to clarify whether CXCL10 plays a pathogenetic role in disease progression in CHF/CD and to understand the mechanisms leading to increased CXCL10 secretion...
November 15, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29138954/identification-of-compounds-from-palicourea-rigida-leaves-with-topical-anti-inflammatory-potential-using-experimental-models
#7
Rafael P Pinheiro, Muiara A Moraes, Bruna C S Santos, Rodrigo L Fabri, Glauciemar Del-Vechio-Vieira, Célia H Yamamoto, Ana Lúcia S M Araújo, Aílson L A Araújo, Orlando V Sousa
Palicourea rigida Kunth is traditionally used for the treatment of skin diseases, kidney pains and ovarian inflammation. Based on these traditional uses, this study evaluated the topical anti-inflammatory activity of the ethanol extract from P. rigida leaves (EEPR) and identified bioactive compounds. Ear edema was induced in Swiss mice by the topical application of Croton oil, arachidonic acid, phenol and capsaicin. Histopathological analysis and myeloperoxidase and N-acetyl-β-D-glucosaminidase activities were determined...
November 14, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/29132836/prevalence-of-fabry-disease-in-young-patients-with-stroke-in-argentina
#8
Ricardo C Reisin, Julieta Mazziotti, Luciana León Cejas, Alberto Zinnerman, Pablo Bonardo, Manuel Fernández Pardal, Alejandra Martínez, Patricia Riccio, Sebastián Ameriso, Eduardo Bendersky, Pedro Nofal, Patricia Cairola, Lorena Jure, Andrea Sotelo, Paula Rozenfeld, Romina Ceci, Ignacio Casas-Parera, Analía Sánchez Luceros
BACKGROUND: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. METHODS: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days...
November 10, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29131444/native-t1-reference-values-for-nonischemic-cardiomyopathies-and-populations-with-increased-cardiovascular-risk-a-systematic-review-and-meta-analysis
#9
REVIEW
Maaike van den Boomen, Riemer H J A Slart, Enzo V Hulleman, Rudi A J O Dierckx, Birgitta K Velthuis, Pim van der Harst, David E Sosnovik, Ronald J H Borra, Niek H J Prakken
BACKGROUND: Although cardiac MR and T1 mapping are increasingly used to diagnose diffuse fibrosis based cardiac diseases, studies reporting T1 values in healthy and diseased myocardium, particular in nonischemic cardiomyopathies (NICM) and populations with increased cardiovascular risk, seem contradictory. PURPOSE: To determine the range of native myocardial T1 value ranges in patients with NICM and populations with increased cardiovascular risk. STUDY TYPE: Systemic review and meta-analysis...
November 13, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29120015/ascending-aortic-remodelling-in-fabry-disease-after-long-term-enzyme-replacement-therapy
#10
Pierre Monney, Salah Dine Qanadli, Steven Hajdu, Christel Tran, Juerg Schwitter, Olivier Dormond, Frédéric Barbey
BACKGROUND: Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors. AIMS OF THE STUDY: To characterise the remodelling of the ascending aorta in classic Fabry disease under long-term enzyme replacement therapy. METHODS: Diameter of the ascending aorta was measured with magnetic resonance imaging at the sino-tubular junction (STJ), and proximal (pAsAo), and distal ascending aorta (dAsAo) at baseline, and after 5 and 10 years of enzyme replacement therapy in 15 adult Fabry patients (10 males; 5 females)...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29110178/priapism-in-a-fabry-disease-mouse-model-is-associated-with-upregulated-penile-nnos-and-enos-expression
#11
Xing-Li Meng, Erland Arning, Mary Wight-Carter, Taniqua S Day, Siamak Jabbarzadeh-Tabrizi, Shuyuan Chen, Robin J Ziegler, Teodoro Bottiglieri, Jay W Schneider, Seng H Cheng, Raphael Schiffmann, Jin-Song Shen
Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis. The goal of this study was to investigate the pathogenesis of Fabry disease-associated priapism in a mouse model of the disease. We found that Fabry mice develop late-onset priapism. Neuronal nitric oxide synthase (nNOS), which was predominantly present as the 120-kDa N-terminus-truncated form, was significantly upregulated in the penis of 18-month-old Fabry mice compared to wild type controls (~fivefold)...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29100912/fabry-disease-review-and-experience-during-newborn-screening
#12
REVIEW
Ting-Rong Hsu, Dau-Ming Niu
Fabry disease (FD) is an X-linked lysosomal storage disease and is the result of mutation in the α-Galactosidase A gene; such mutations cause a deficiency in α-Galactosidase A enzyme and an accumulation of glycosphingolipid in tissue. Affected males with classic FD have little or no enzyme activity and have an early onset of symptoms and signs, including acroparesthesias, hypohidrosis, angiokeratomas, gastrointestinal dysfunction and/or a characteristic corneal dystrophy during childhood/adolescence. Males with late-onset FD who have residual enzyme activity develop progressive multi-systemic involvement that leads to renal failure and hypertrophic cardiomyopathy, as well as cerebrovascular disease; these events mostly occur during the fourth to seventh decades of life...
October 20, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29099167/separation-and-analysis-of-lactosylceramide-galabiosylceramide-and-globotriaosylceramide-by-lc-ms-ms-in-urine-of-fabry-disease-patients
#13
Michel Boutin, Iskren Menkovic, Tristan Martineau, Vanessa Vaillancourt-Lavigueur, Amanda Toupin, Christiane Auray-Blais
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-GAL A) deficiency. This enzyme contributes to the cellular recycling of glycosphingolipids such as galabiosylceramide (Ga2), globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) by hydrolysing the terminal alpha-galactosyl moiety. Urine and plasma α-GAL A substrates are currently analyzed as biomarkers for the detection, monitoring and follow-up of Fabry disease patients. The sensitivity of the analysis of Ga2 is decreased by the co-analysis of its structural isomer, lactosylceramide (LacCer), which is not an α-GAL A substrate...
November 3, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29098097/early-renal-involvement-in-a-girl-with-classic-fabry-disease
#14
Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29079200/female-fabry-disease-patients-and-x-chromosome-inactivation
#15
Patrycja Juchniewicz, Anna Kloska, Anna Tylki-Szymańska, Joanna Jakóbkiewicz-Banecka, Grzegorz Węgrzyn, Marta Moskot, Magdalena Gabig-Cimińska, Ewa Piotrowska
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most females carrying mutated allele also develop symptoms, demonstrating a wide range of disease severity, from a virtually asymptomatic to more classical profile, with cardiac, renal, and cerebrovascular manifestations. This variable expression in females is thought to be influenced by the process of X-chromosome inactivation (XCI)...
October 24, 2017: Gene
https://www.readbyqxmd.com/read/29064315/safety-and-efficacy-of-helminth-treatment-in-relapsing-remitting-multiple-sclerosis-results-of-the-hint-2-clinical-trial
#16
John Fleming, Gianna Hernandez, Leslie Hartman, Jane Maksimovic, Sara Nace, Benjamin Lawler, Todd Risa, Thomas Cook, Rashmi Agni, Mark Reichelderfer, Christopher Luzzio, Loren Rolak, Aaron Field, Zsuzsanna Fabry
BACKGROUND: The hygiene hypothesis suggests that microbial replacement may be therapeutic in allergic and autoimmune diseases. Nevertheless, the results of helminth treatment, including in multiple sclerosis (MS), have been inconclusive. OBJECTIVE: To assess safety and brain magnetic resonance imaging (MRI) activity in subjects with relapsing-remitting multiple sclerosis (RRMS) during oral administration of ova from the porcine whipworm, Trichuris suis (TSO). METHODS: A total of 16 disease-modifying treatment (DMT) naive RRMS subjects were studied in a baseline versus treatment (BVT) controlled prospective study...
October 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29061677/author-response-alterations-of-functional-connectivity-of-the-motor-cortex-in-fabry-disease-an-rs-fmri-study
#17
Sirio Cocozza, Antonio Pisani, Arturo Brunetti, Mario Quarantelli, Enrico Tedeschi
No abstract text is available yet for this article.
October 24, 2017: Neurology
https://www.readbyqxmd.com/read/29061676/letter-re-alterations-of-functional-connectivity-of-the-motor-cortex-in-fabry-disease-an-rs-fmri-study
#18
GianPietro Sechi, Rita Demurtas, William Boadu, Enzo Ortu
No abstract text is available yet for this article.
October 24, 2017: Neurology
https://www.readbyqxmd.com/read/29055531/the-utility-of-the-fipi-score-in-predicting-long-term-clinical-outcomes-in-patients-with-fabry-disease-receiving-enzyme-replacement-therapy-with-agalsidase-alfa
#19
Dylan J Mac Lochlainn, Douglas G J McKechnie, Atul B Mehta, Derralynn A Hughes
Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT...
October 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29051208/redefining-the-pulvinar-sign-in-fabry-disease
#20
S Cocozza, C Russo, A Pisani, G Olivo, E Riccio, A Cervo, G Pontillo, S Feriozzi, M Veroux, Y Battaglia, D Concolino, F Pieruzzi, R Mignani, P Borrelli, M Imbriaco, A Brunetti, E Tedeschi, G Palma
BACKGROUND AND PURPOSE: The pulvinar sign refers to exclusive T1WI hyperintensity of the lateral pulvinar. Long considered a common sign of Fabry disease, the pulvinar sign has been reported in many pathologic conditions. The exact incidence of the pulvinar sign has never been tested in representative cohorts of patients with Fabry disease. The aim of this study was to assess the prevalence of the pulvinar sign in Fabry disease by analyzing T1WI in a large Fabry disease cohort, determining whether relaxometry changes could be detected in this region independent of the pulvinar sign positivity...
October 19, 2017: AJNR. American Journal of Neuroradiology
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