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Fabry's disease

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https://www.readbyqxmd.com/read/28726033/recommendations-for-the-inclusion-of-fabry-disease-as-a-rare-febrile-condition-in-existing-algorithms-for-fever-of-unknown-origin
#1
Raffaele Manna, Roberto Cauda, Sandro Feriozzi, Giovanni Gambaro, Antonio Gasbarrini, Didier Lacombe, Avi Livneh, Alberto Martini, Huri Ozdogan, Antonio Pisani, Eleonora Riccio, Elena Verrecchia, Lorenzo Dagna
Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. We hypothesize that this undiagnosed subgroup may be comprised of, at least in part, a number of rare genetic febrile diseases such as Fabry disease...
July 19, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28723748/clinical-characteristics-and-mutation-spectrum-of-gla-in-korean-patients-with-fabry-disease-by-a-nationwide-survey-underdiagnosis-of-late-onset-phenotype
#2
Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, Han-Wook Yoo
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28719891/serum-interleukin-10-levels-correlate-with-cerebrospinal-fluid-amyloid-beta-deposition-in-alzheimer-disease-patients
#3
Lucio D'Anna, Samir Abu-Rumeileh, Martina Fabris, Cinzia Pistis, Antonio Baldi, Nova Sanvilli, Francesco Curcio, Gian Luigi Gigli, Sebastiano D'Anna, Mariarosaria Valente
BACKGROUND AND OBJECTIVE: In Alzheimer disease (AD) inflammation becomes evident throughout the course of the disease. However, the association between inflammation, cognitive impairment, and cerebrospinal biomarkers (Aβ42, t-tau, p-tau181, and Aβ42/p-tau181 ratio) is poorly understood. METHODS: A large panel of inflammatory cytokines (interleukin [IL]-1β, IL-1ra, IL-2, IL-4, IL-6, IL-10, IL-17, interferon-γ, tumor necrosis factor-α, and vascular endothelial growth factor) was analyzed using a multiplex immunoassay in 27 patients with a diagnosis of AD dementia and in 18 control subjects...
July 19, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#4
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#5
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28709963/animal-models-of-biliary-injury-and-altered-bile-acid-metabolism
#6
REVIEW
Valeria Mariotti, Mario Strazzabosco, Luca Fabris, Diego F Calvisi
In the last 25years, a number of animal models, mainly rodents, have been generated with the goal to mimic cholestatic liver injuries and, thus, to provide in vivo tools to investigate the mechanisms of biliary repair and, eventually, to test the efficacy of innovative treatments. Despite fundamental limitations applying to these models, such as the distinct immune system and the different metabolism regulating liver homeostasis in rodents when compared to humans, multiple approaches, such as surgery (bile duct ligation), chemical-induced (3,5-diethoxycarbonyl-1,4-dihydrocollidine, DDC, α-naphthylisothiocyanate, ANIT), viral infections (Rhesus rotavirustype A, RRV-A), and genetic manipulation (Mdr2, Cftr, Pkd1, Pkd2, Prkcsh, Sec63, Pkhd1) have been developed...
July 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28702887/ambulatory-blood-pressure-monitoring-derived-short-term-blood-pressure-variability-in-primary-hyperparathyroidism
#7
A Concistrè, A Grillo, G La Torre, R Carretta, B Fabris, L Petramala, C Marinelli, A Rebellato, F Fallo, C Letizia
INTRODUCTION: Primary hyperparathyroidism is associated with a cluster of cardiovascular manifestations, including hypertension, leading to increased cardiovascular risk. PURPOSE: The aim of our study was to investigate the ambulatory blood pressure monitoring-derived short-term blood pressure variability in patients with primary hyperparathyroidism, in comparison with patients with essential hypertension and normotensive controls. METHODS: Twenty-five patients with primary hyperparathyroidism (7 normotensive,18 hypertensive) underwent ambulatory blood pressure monitoring at diagnosis, and fifteen out of them were re-evaluated after parathyroidectomy...
July 12, 2017: Endocrine
https://www.readbyqxmd.com/read/28702361/home-infusion-program-with-enzyme-replacement-therapy-for-fabry-disease-the-experience-of-a-large-italian-collaborative-group
#8
D Concolino, L Amico, M D Cappellini, E Cassinerio, M Conti, M A Donati, F Falvo, A Fiumara, M Maccarone, R Manna, A Matucci, M B Musumeci, A Nicoletti, R Nisticò, F Papadia, R Parini, D Peluso, L Pensabene, A Pisani, G Pistone, M Rigoldi, I Romani, M Tenuta, G Torti, M Veroux, E Zachara
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28699267/lucerastat-an-iminosugar-for-substrate-reduction-therapy-tolerability-pharmacodynamics-and-pharmacokinetics-in-patients-with-fabry-disease-on-enzyme-replacement
#9
N Guérard, D Oder, P Nordbeck, C Zwingelstein, O Morand, Rwd Welford, J Dingemanse, C Wanner
Lucerastat is a glucosylceramide synthase inhibitor aimed at reducing production of glycosphingolipids (GSLs), including those accumulating in Fabry disease (FD). The safety, tolerability, pharmacodynamics, and pharmacokinetics of oral lucerastat were evaluated in an exploratory study in FD patients. In this single-center, open-label, randomized study, 10 subjects received lucerastat 1000 mg b.i.d. for 12 weeks on top of enzyme replacement therapy (ERT) (lucerastat group). Four subjects with FD received ERT only...
July 12, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28688718/evolution-of-cardiac-pathology-in-classic-fabry-disease-progressive-cardiomyocyte-enlargement-leads-to-increased-cell-death-and-fibrosis-and-correlates-with-severity-of-ventricular-hypertrophy%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2
#10
Andrea Frustaci, Cristina Chimenti, Dana Doheny, Robert J Desnick
BACKGROUND: Fabry disease, an X-linked lysosomal storage disease, results from deficient α-galactosidase A (α-GalA) activity and the systemic accumulation of α-galactosyl-terminated glycosphingolipids. Two major phenotypes, "Classic" and "Later-Onset", lead to renal failure, and/or cardiac disease, and early demise. To date, the evolution and progression of the cardiac pathology and resultant clinical manifestations in family members of phenotype have not been well characterized. METHODS AND RESULTS: In a Classic family with nine affected members (GLA mutation c...
June 23, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28687233/overview-of-immune-abnormalities-in-lysosomal-storage-disorders
#11
REVIEW
Donato Rigante, Clelia Cipolla, Umberto Basile, Francesca Gulli, Maria Cristina Savastano
The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or X-linked syndromes, caused by specific lysosomal enzyme deficiencies: all LSDs are characterized by progressive accumulation of heterogeneous biologic materials in the lysosomes of various parts of the body such as viscera, skeleton, skin, heart, and central nervous system. At least a fraction of LSDs has been associated with mixed abnormalities involving the immune system, while some patients with LSDs may result more prone to autoimmune phenomena...
July 4, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28683789/circulating-osteoprotegerin-is-associated-with-chronic-kidney-disease-in-hypertensive-patients
#12
Stella Bernardi, Barbara Toffoli, Fleur Bossi, Riccardo Candido, Elisabetta Stenner, Renzo Carretta, Fabio Barbone, Bruno Fabris
BACKGROUND: Osteoprotegerin (OPG) is a glycoprotein that plays an important regulatory role in the skeletal, vascular, and immune system. It has been shown that OPG predicts chronic kidney disease (CKD) in diabetic patients. We hypothesized that OPG could be a risk marker of CKD development also in non-diabetic hypertensive patients. METHODS: A case-control study was carried out to measure circulating OPG levels in 42 hypertensive patients with CKD and in 141 hypertensive patients without CKD...
July 6, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28682471/impact-of-immunosuppressive-therapy-on-therapy-neutralizing-antibodies-in-transplanted-patients-with-fabry-disease
#13
Malte Lenders, Daniel Oder, Albina Nowak, Sima Canaan-Kühl, Laila Arash-Kaps, Christiane Drechsler, Boris Schmitz, Peter Nordbeck, Julia B Hennermann, Christoph Kampmann, Stefan Reuter, Stefan-Martin Brand, Christoph Wanner, Eva Brand
BACKGROUND: Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these FD patients. METHODS: In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male FD patients (n=26) receiving immunosuppressive therapy due to kidney (n=24) or heart (n=2) transplantation...
July 6, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28682034/-fabry-s-disease-an-example-of-cardiorenal-syndrome-type-5
#14
Gianluca Villa, Stefano Romagnoli, Aashish Sharma, Claudio Ronco
Fabry's disease (FD) is a severe congenital metabolic disorder characterized by the deficient activity of lysosomal exoglycohydrolase alpha-galactosidase, characterized by glycosphingolipid deposition in several cells, such as capillary endothelial cells, renal, cardiac, and nerve cells. As a systemic disease leading to a contemporaneous myocardial and renal dysfunction, FD might be an example of cardiorenal syndrome type 5 (CRS-5). Kidney damage is commonly characterized by proteinuria, isosthenuria and altered tubular function when occurs at the second-third decade, azotemia and end-stage renal disease in third-fifth decade...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28680430/human-alpha-galactosidases-transiently-produced-in-nicotiana-benthamiana-leaves-new-insights-in-substrate-specificities-with-relevance-for-fabry-disease
#15
Kassiani Kytidou, Thomas J M Beenakker, Lotte B Westerhof, Cornelis H Hokke, Geri F Moolenaar, Nora Goosen, Mina Mirzaian, Maria J Ferraz, Mark de Geus, Wouter W Kallemeijn, Herman S Overkleeft, Rolf G Boot, Arjen Schots, Dirk Bosch, Johannes M F G Aerts
Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes and nociceptive neurons. Enzyme replacement therapy is used to treat the disease, but clinical efficacy is limited in many male FD patients due to development of neutralizing antibodies (Ab). Therapeutic use of modified lysosomal α-N-acetyl-galactosaminidase (α-NAGAL) with increased α-galactosidase activity (α-NAGAL(EL)) has therefore been suggested...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28674962/fabry-disease
#16
Toshinori Yuasa, Toshihiro Takenaka, Koji Higuchi, Nami Uchiyama, Yoshihisa Horizoe, Hideto Cyaen, Naoko Mizukami, Kunitsugu Takasaki, Akira Kisanuki, Masaaki Miyata, Mitsuru Ohishi
Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females. There are also some variants of Fabry disease, and cardiac variant (cardiac Fabry disease) has the dysfunctions only in heart. Cardiac manifestations in Fabry disease are initially symmetrical and concentric left ventricular hypertrophy, and later progressive cardiac dysfunction with localized thinning of the basal posterior wall...
July 3, 2017: Journal of Echocardiography
https://www.readbyqxmd.com/read/28672034/skin-globotriaosylceramide-3-deposits-are-specific-to-fabry-disease-with-classical-mutations-and-associated-with-small-fibre-neuropathy
#17
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
BACKGROUND: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation. METHODS: we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28668140/clinical-features-diagnosis-and-management-of-patients-with-anderson-fabry-cardiomyopathy
#18
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/28663131/correlation-of-lyso-gb3-levels-in-dried-blood-spots-and-sera-from-patients-with-classic-and-later-onset-fabry-disease
#19
Albina Nowak, Thomas Mechtler, David C Kasper, Robert J Desnick
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in affected males and heterozygotes with the "Classic" and "Later-Onset" phenotypes. METHODS: The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry...
June 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28662189/affective-and-cognitive-behavior-in-the-alpha-galactosidase-a-deficient-mouse-model-of-fabry-disease
#20
Lukas Hofmann, Franziska Karl, Claudia Sommer, Nurcan Üçeyler
Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO) and compared results with those of age-matched male wildtype (WT) littermates. Young (3 months) and old (≥ 18 months) mice were tested in the naïve state and after i...
2017: PloS One
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