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Fabry disease

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https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#1
William G Mantyh, P James B Dyck, Peter J Dyck, Janean K Engelstad, William J Litchy, Paola Sandroni, Mark D P Davis
Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD)...
December 7, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27916943/the-large-phenotypic-spectrum-of-fabry-disease-requires-graduated-diagnosis-and-personalized-therapy-a-meta-analysis-can-help-to-differentiate-missense-mutations
#2
Valentina Citro, Marco Cammisa, Ludovica Liguori, Chiara Cimmaruta, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti
Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable than the wild type protein. These mutants can be stabilized by small molecules which are defined as pharmacological chaperones. The first chaperone to reach clinical trial is 1-deoxygalactonojirimycin, but others have been tested in vitro...
December 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27914711/proteomic-based-research-strategy-identified-laminin-subunit-alpha-2-as-a-potential-urinary-specific-biomarker-for-the-medullary-sponge-kidney-disease
#3
Antonia Fabris, Maurizio Bruschi, Laura Santucci, Giovanni Candiano, Simona Granata, Alessandra Dalla Gassa, Nadia Antonucci, Andrea Petretto, Gian Marco Ghiggeri, Giovanni Gambaro, Antonio Lupo, Gianluigi Zaza
Medullary sponge kidney (MSK) disease, a rare kidney malformation featuring recurrent renal stones and nephrocalcinosis, continues to be diagnosed using expensive and time-consuming clinical/instrumental tests (mainly urography). Currently, no molecular diagnostic biomarkers are available. To identify such we employed a proteomic-based research strategy utilizing urine from 22 patients with MSK and 22 patients affected by idiopathic calcium nephrolithiasis (ICN) as controls. Notably, two patients with ICN presented cysts...
November 30, 2016: Kidney International
https://www.readbyqxmd.com/read/27912900/diagnosis-and-treatment-of-fabry-disease
#4
Alberto Ortiz, Maria Dolores Sanchez-Niño
No abstract text is available yet for this article.
November 29, 2016: Medicina Clínica
https://www.readbyqxmd.com/read/27909515/myocardial-biopsy-in-idiopathic%C3%A2-atrial-fibrillation-and-other-arrhythmias-nosological-diagnosis-clinical-and-morphological-parallels-and-treatment
#5
O V Blagova, A V Nedostup, E A Kogan, V A Sulimov, S A Abugov, A G Kupriyanova, V A Zaydenov, A E Donnikov, E V Zaklyazminskaya, E A Okisheva
BACKGROUND: The nosological nature of "idiopathic" arrhythmias and the effect of etiotropic and pathogenetic treatment are often unknown. METHODS AND RESULTS: 19 patients (42.6±11.3 years, 9 women) with atrial fibrillation (n = 16), supraventricular (n = 10) and ventricular (n = 4) premature beats, supraventricular (n = 2) and ventricular tachycardia (n = 1), left bundle branch block (n= 2), AV block (n = 2) without structural heart changes. Viruses were identified (polymerase chain reaction, PCR) along with measurement of anti-heart antibodies (AHA) and endomyocardial biopsy (EMB)...
June 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27904112/a-renal-variant-of-fabry-disease-diagnosed-by-the-presence-of-urinary-mulberry-cells
#6
Homare Shimohata, Yujiro Ogawa, Hiroshi Maruyama, Kouichi Hirayama, Masaki Kobayashi
Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence of mulberry cells. He had no history of general symptoms except for proteinuria. The presence of mulberry cells caused us to suspect Fabry disease and he was thereafter diagnosed to have a renal variant of Fabry disease based on the findings of a renal biopsy, a mutation analysis and a low level of α-galactosidase A activity...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27902397/vesivirus-2117-capsids-more-closely-resemble-sapovirus-and-lagovirus-particles-than-other-known-vesivirus-structures
#7
Michaela Conley, Edward Emmott, Richard Orton, David Taylor, Daniel Carneiro, Kazuyoshi Murata, Ian Goodfellow, Grant Hansman, David Bhella
Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme. The consequent interruption in supply of Fabrazyme and Cerezyme (drugs used to treat Fabry and Gaucher disease respectively), caused significant economic losses. Vesivirus 2117 is a member of the Caliciviridae; a family of small icosahedral viruses encoding a positive sense RNA genome. We have used cryo-electron microscopy and three dimensional image reconstruction to calculate a structure of vesivirus 2117 virus like particles as well as feline calicivirus and a chimeric sapovirus...
November 14, 2016: Journal of General Virology
https://www.readbyqxmd.com/read/27899752/patent-foramen-ovale-and-cryptogenic-strokes-in-the-stroke-in-young-fabry-patients-study
#8
Roman Huber, Ulrike Grittner, Frank Weidemann, Vincent Thijs, Christian Tanislav, Christian Enzinger, Franz Fazekas, Markus Wolf, Michael G Hennerici, Dominick J H McCabe, Jukaa Putaala, Turgut Tatlisumak, Christoph Kessler, Bettina von Sarnowski, Peter Martus, Edwin Kolodny, Bo Norrving, Arndt Rolfs
BACKGROUND AND PURPOSE: A patent foramen ovale (PFO) is disproportionately prevalent in patients with cryptogenic stroke. Without alternative explanations, it is frequently considered to be causative. A detailed stratification of these patients may improve the identification of incidental PFO. METHODS: We investigated the PFO prevalence in 3497 transient ischemic attack and ischemic stroke patients aged 18 to 55 years in the prospective multicenter SIFAP1 study (Stroke in Young Fabry Patients 1) using the ASCO classification...
November 29, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27899143/presymptomatic-diagnosis-of-fabry-s-disease-a-case-report
#9
Rasmus Bo Hasselbalch, Per Lav Madsen, Henning Bundgaard, Juliane Theilade
BACKGROUND: Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms...
November 29, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27888626/interleukin-18-deteriorates-fabry-cardiomyopathy-and-contributes-to-the-development-of-left-ventricular-hypertrophy-in-fabry-patients-with-gla-ivs4-919-g-a-mutation
#10
Yueh Chien, Chian-Shiu Chien, Huai-Chih Chiang, Wei-Lin Huang, Shih-Jie Chou, Wei-Chao Chang, Yuh-Lih Chang, Hsin-Bang Leu, Kuan-Hsuan Chen, Kang-Ling Wang, Ying-Hsiu Lai, Yung-Yang Liu, Kai-Hsi Lu, Hsin-Yang Li, Yen-Jen Sung, Yuh-Jyh Jong, Yann-Jang Chen, Chung-Hsuan Chen, Wen-Chung Yu
RATIONALE: A high incidence of GLA IVS4+919 G>A mutation in patients with Fabry disease of the later-onset cardiac phenotype, has been reported in Taiwan. However, suitable biomarkers or potential therapeutic surrogates for Fabry cardiomyopathy (FC) in such patients under enzyme replacement treatment (ERT) remain unknown. OBJECTIVE: Using FC patients carrying IVS4+919 G>A mutation, we constructed an induced pluripotent stem cell (iPSC)-based disease model to investigate the pathogenetic biomarkers and potential therapeutic targets in ERT-treated FC...
November 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/27886142/gender-differences-in-the-application-of-spanish-criteria-for-initiation-of-enzyme-replacement-therapy-for-fabry-disease-in-the-fabry-outcome-survey
#11
Miguel-Ángel Barba-Romero, Guillem Pintos-Morell
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation. We assessed alignment of criteria for ERT initiation in the Spanish adult population included in FOS with recommendations of a Spanish national consensus. This retrospective analysis examined baseline clinical data of 88 adults (49 females) enrolled in the FOS database up to August 2014...
November 24, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27852300/paediatric-fabry-disease-prognostic-significance-of-ocular-changes-for-disease-severity
#12
Gisela Kalkum, Susanne Pitz, Nesrin Karabul, Michael Beck, Guillem Pintos-Morell, Rossella Parini, Marianne Rohrbach, Svetlana Bizjajeva, Uma Ramaswami
BACKGROUND: Ocular signs of Fabry disease can be seen in the first decade of life. METHODS: We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). RESULTS: At least one ocular sign was found in 55/101 (54.5%) girls and 62/131 (47...
November 16, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27851774/skin-globotriaosylceramide-3-load-is-increased-in-men-with-advanced-fabry-disease
#13
Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer
BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 deposits in FD patients applying immunofluorescence and to determine if cutaneous Gb3 load correlates with disease severity. METHODS: At our Fabry Center for Interdisciplinary Therapy we enrolled 84 patients with FD and 27 healthy controls...
2016: PloS One
https://www.readbyqxmd.com/read/27836714/abnormal-nociceptive-processing-occurs-centrally-and-not-peripherally-in-pain-free-parkinson-disease-patients-a-study-with-laser-evoked-potentials
#14
Sandro Zambito-Marsala, Roberto Erro, Ruggero Bacchin, Annalisa Fornasier, Federico Fabris, Cecilia Lo Cascio, Franco Ferracci, Francesca Morgante, Michele Tinazzi
BACKGROUND: Several studies documented abnormal nociceptive processing in PD patients. Pain central pathways are accessible by laser-evoked potentials (LEPs). LEPs recording show a N2/P2 complex mostly generated by the anterior cingulate cortex, preceded by an earlier negative component (N1), originating from the opercular cortex. Previous work demonstrated N2/P2 amplitude reduction in PD patients and suggested a centrally-acting pathomechanism for the genesis of pain. However, since a peripheral deafferentation has been recently demonstrated in PD, it is not clear if such LEP abnormalities reflect a mechanism acting centrally or not...
October 24, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27835692/uric-acid-as-a-marker-of-mortality-and-morbidity-in-fabry-disease
#15
Daniel Rob, Josef Marek, Gabriela Dostálová, Lubor Goláň, Aleš Linhart
BACKGROUND: Serum uric acid (UA) elevation is common in patients with cardiovascular, renal and metabolic diseases. However, no study to date has analysed the role of UA in Fabry disease (FD). OBJECTIVES: To evaluate the association between serum UA levels and mortality and morbidity in FD. MATERIALS AND METHODS: We conducted a post-hoc analysis of a prospectively followed-up cohort of 124 patients with genetically proven FD. Serum UA levels were acquired at baseline; clinical events and mortality were assessed during regular visits every 6 to 12 months...
2016: PloS One
https://www.readbyqxmd.com/read/27834756/oral-pharmacological-chaperone-migalastat-compared-with-enzyme-replacement-therapy-in-fabry-disease-18-month-results-from-the-randomised-phase-iii-attract-study
#16
Derralynn A Hughes, Kathleen Nicholls, Suma P Shankar, Gere Sunder-Plassmann, David Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin Lachmann, Toya Ohashi, Iacopo Olivotto, Norio Sakai, Patrick Deegan, David Dimmock, François Eyskens, Dominique P Germain, Ozlem Goker-Alpan, Eric Hachulla, Ana Jovanovic, Charles M Lourenco, Ichiei Narita, Mark Thomas, William R Wilcox, Daniel G Bichet, Raphael Schiffmann, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Franklin Johnson, Pol Boudes, Elfrida R Benjamin, David J Lockhart, Carrolee Barlow, Nina Skuban, Jeffrey P Castelli, Jay Barth, Ulla Feldt-Rasmussen
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking. METHODS: The main objective of the 18-month, randomised, active-controlled ATTRACT study was to assess the effects of migalastat on renal function in patients with Fabry disease previously treated with ERT...
November 10, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27832731/screening-fabry-s-disease-in-chronic-kidney-disease-patients-not-on-dialysis-a-multicenter-study
#17
Yavuz Yeniçerioğlu, Hakan Akdam, Belda Dursun, Alper Alp, Funda Sağlam Eyiler, Davut Akın, Yelda Gün, Bülent Hüddam, Mehmet Batmazoğlu, Dilek Gibyeli Genek, Serhat Pirinççi, İsmail Rıfkı Ersoy, Atilla Üzüm, Zeki Soypaçacı, Mehmet Tanrısev, Hülya Çolak, Sibel Demiral Sezer, Gökay Bozkurt, Utku Oğan Akyıldız, Ayşe İpek Akyüz Ünsal, Mustafa Ünübol, Meltem Uslu, Ufuk Eryılmaz, Ceren Günel, İbrahim Meteoğlu, İrfan Yavaşoğlu, Alparslan Ünsal, Harun Akar, Pınar Okyay
OBJECTIVES: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. METHODS: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled...
November 10, 2016: Renal Failure
https://www.readbyqxmd.com/read/27826057/adenylyl-cyclase-5-links-changes-in-calcium-homeostasis-to-camp-dependent-cyst-growth-in-polycystic-liver-disease
#18
Carlo Spirli, Valeria Mariotti, Ambra Villani, Luca Fabris, Romina Fiorotto, Mario Strazzabosco
BACKGROUND/AIMS: Genetic defects in Polycystins -1 or -2 (PC1 or PC2) cause polycystic liver disease associated with ADPKD (PLD-ADPKD). Progressive cyst growth is sustained by a cAMP-dependent Ras/ERK/HIFα pathway leading to increased autocrine/paracrine VEGF-A signalling. In PC2-defective cholangiocytes, store-operated Ca(2+) entry (SOCE), intracellular and endoplasmic reticulum [Ca(2+)]ER levels are reduced, while cAMP production in response to [Ca(2+)]ER depletion is increased. We hypothesized that in PC2-defective cells, in response to [Ca(2+)]ER depletion, the Ca(2+)-inhibitable adenylyl-cyclases AC5 or AC6 are activated by the ER chaperon STIM1 resulting in cAMP/PKA-dependent Ras/ERK/HIFα pathway activation...
November 5, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27825144/genetic-variants-associated-with-gastrointestinal-symptoms-in-fabry-disease
#19
Maria Teresa Di Martino, Francesca Scionti, Simona Sestito, Angela Nicoletti, Mariamena Arbitrio, Pietro Hiram Guzzi, Valentina Talarico, Federica Altomare, Maria Teresa Sanseviero, Giuseppe Agapito, Antonio Pisani, Eleonora Riccio, Osvaldo Borrelli, Daniela Concolino, Licia Pensabene
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly understood. To shed light either on differential clinical presentation or on intervariability of GIS in FD, we genotyped 1936 genetic markers across 231 genes that encode for drug-metabolizing enzymes and drug transport proteins in 49 FD patients, using the DMET Plus platform...
November 5, 2016: Oncotarget
https://www.readbyqxmd.com/read/27813552/enos-gene-glu298asp-and-4b-a-polymorphisms-are-associated-with-renal-function-parameters-in-mexican-patients-with-fabry-disease
#20
A Marin-Medina, A J L Brambila-Tapia, V J Picos-Cárdenas, M P Gallegos-Arreola, L E Figuera
Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been studied in the context of many different diseases, including those involving cardiovascular and renal alterations. Considering the lack of information regarding eNOS variants and FD, we investigated whether there were associations between eNOS genetic variants and renal function parameters in Mexican patients with FD and renal impairment...
October 24, 2016: Genetics and Molecular Research: GMR
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