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    3957 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.
    PLoS One 2017 21;12(11):e0188103. Epub 2017 Nov 21.
    Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.
    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. Read More

    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events.
    Mol Genet Metab Rep 2018 Mar 9;14:31-35. Epub 2017 Nov 9.
    Medical Genetics Service HCPA/Department of Genetics UFRGS and INAGEMP, Porto Alegre, Brazil.
    This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and males were more likely to experience cardiac and renal events at a younger age than females. Read More

    Parkinson's disease prevalence in Fabry disease: A survey study.
    Mol Genet Metab Rep 2018 Mar 9;14:27-30. Epub 2017 Nov 9.
    Department of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.
    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. Read More

    Small Fiber Neuropathy: Diagnosis, Causes, and Treatment.
    Joint Bone Spine 2017 Nov 15. Epub 2017 Nov 15.
    Département de Médecine Interne, Hôpital Lariboisière, APHP, 75010 Paris France; Université Paris Diderot, 75010 Paris, France. Electronic address:
    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. Read More

    Lysosomal storage diseases.
    Transl Sci Rare Dis 2017 May 25;2(1-2):1-71. Epub 2017 May 25.
    Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    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. Read More

    Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
    J Inherit Metab Dis 2017 Nov 15. Epub 2017 Nov 15.
    Neurological Unit, St. Bassiano Hospital, Via dei Lotti, 40, 36061, Bassano del Grappa, Italy.
    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. Read More

    Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
    J Stroke Cerebrovasc Dis 2017 Nov 10. Epub 2017 Nov 10.
    Academia de Medicina, Buenos Aires, Argentina.
    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. Read More

    Native T1 reference values for nonischemic cardiomyopathies and populations with increased cardiovascular risk: A systematic review and meta-analysis.
    J Magn Reson Imaging 2017 Nov 13. Epub 2017 Nov 13.
    Department of Radiology, University of Groningen, University Medical Center Groningen, the Netherlands.
    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. Read More

    Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.
    Swiss Med Wkly 2017 Nov 9;147:w14517. Epub 2017 Nov 9.
    Service of Genetic Medicine, Lausanne University Hospital, Switzerland.
    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). Read More

    Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression.
    J Inherit Metab Dis 2017 Nov 6. Epub 2017 Nov 6.
    Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX, 75226, USA.
    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. Read More

    Fabry disease: Review and experience during newborn screening.
    Trends Cardiovasc Med 2017 Oct 20. Epub 2017 Oct 20.
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine and Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address:
    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. Read More

    Separation and Analysis of Lactosylceramide, Galabiosylceramide and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients.
    Anal Chem 2017 Nov 3. Epub 2017 Nov 3.
    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. Read More

    Early Renal Involvement in a Girl with Classic Fabry Disease.
    Case Rep Nephrol 2017 1;2017:9543079. Epub 2017 Oct 1.
    GINEF Argentina (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Buenos Aires, Argentina.
    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. Read More

    Female Fabry disease patients and X-chromosome inactivation.
    Gene 2018 Jan 25;641:259-264. Epub 2017 Oct 25.
    Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland. Electronic address:
    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. Read More

    Safety and efficacy of helminth treatment in relapsing-remitting multiple sclerosis: Results of the HINT 2 clinical trial.
    Mult Scler 2017 Oct 1:1352458517736377. Epub 2017 Oct 1.
    Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
    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). Read More

    The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
    Mol Genet Metab 2017 Oct 5. Epub 2017 Oct 5.
    Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, United Kingdom. Electronic address:
    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. Read More

    Redefining the Pulvinar Sign in Fabry Disease.
    AJNR Am J Neuroradiol 2017 Oct 19. Epub 2017 Oct 19.
    From the Departments of Advanced Biomedical Sciences (S.C., C.R., G.O., A.C., G.P., M.I., A.B., E.T.).
    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. Read More

    Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.
    Europace 2017 Oct 17. Epub 2017 Oct 17.
    Department of Cardiology, First Floor, Nuffield House, Queen Elizabeth Hospital, Edgbaston, Birmingham B15 2TH, UK.
    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. Read More

    Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
    J Bras Nefrol 2017 Jul-Sep;39(3):333-336
    Universidade Federal do Paraná.
    Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. Read More

    Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
    J Inherit Metab Dis 2017 Oct 16. Epub 2017 Oct 16.
    Department of Endocrinology and Metabolism, Academic Medical Center, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
    Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect of pain (measured by the Brief Pain Inventory), phenotype, treatment, and FD-related complications on QoL. Read More

    The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
    Scand J Clin Lab Invest 2017 Dec 16;77(8):617-621. Epub 2017 Oct 16.
    g Medical Endocrinology , Rigshospitalet, Copenhagen University , Denmark.
    Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our aim was to elucidate whether the presence of the D313Y variant influenced the α-Gal A activity or resulted in Fabry symptoms or Fabry organ involvement. Read More

    Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
    CEN Case Rep 2017 Nov 10;6(2):210-214. Epub 2017 Oct 10.
    Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, 1-754 Asahimachi-Dori, Chuo-ku, Niigata, 951-8510, Japan.
    Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal hydrolase alpha-galactosidase A (ɑ-Gal A). A 20-year-old woman was referred to our hospital because of proteinuria and persistent macroscopic hematuria. Based on the typical renal pathological findings, deficient activity of the ɑ-Gal A, and heterozygous mutation in the ɑ-Gal A gene, she was diagnosed with Fabry disease. Read More

    Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.
    Circ Cardiovasc Genet 2017 Oct;10(5)
    From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.).

    α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
    Circ Cardiovasc Genet 2017 Oct;10(5)
    From the Department of Internal Medicine I and Comprehensive Heart Failure Center (CHFC) (D.O., D.L., K.H., T.S., J.M., K.L., G.E., C.W., P.N.), Fabry Center for Interdisciplinary Therapy (FAZIT) (D.O., D.L., K.H., N.Ü., T.S., J.M., C.S., G.E., C.W., P.N.), and Department of Neurology (N.Ü., C.S.), University Hospital Würzburg, Germany; West German Heart and Vascular Center Essen, University Hospital Essen, Germany (K.L.); Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany (K.L.); Department of Molecular Pathology, University Hospital of Tübingen, Germany (R.K.); and Department of Cellular and Molecular Pathology, German Cancer Research Center (DKFZ), Heidelberg, Germany (H.-J.G.).
    Background: Hypertrophic cardiomyopathy is the most common type of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations. We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement.

    Methods And Results: All subjects who tested positive for the N215S genotype (n=26, 13 females, mean age 49±17 [range, 14-74] years) were characterized in this prospective monocentric longitudinal cohort study to determine genotype-specific clinical characteristics of the N215S (c. Read More

    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).
    J Cardiovasc Magn Reson 2017 Oct 9;19(1):75. Epub 2017 Oct 9.
    Departments of Medicine and Diagnostic Radiology, McGill University, Montréal, Québec, Canada.
    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. Read More

    Fabry disease due to D313Y and novel GLA mutations.
    BMJ Open 2017 Oct 6;7(10):e017098. Epub 2017 Oct 6.
    Department of Immunology & Histocompatibility, School of Medicine, University of Thessaly, Larissa, Greece.
    Objectives: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature.

    Setting And Participants: Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study.

    Primary And Secondary Outcome Measures: Genotyping and measurement of lyso-Gb3 was performed in all individuals. Read More

    Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
    Clin Kidney J 2017 Oct 19;10(5):586-593. Epub 2017 Jul 19.
    Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.
    A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. Consequently, it has also allowed the reclassification of diseases and has broadened the phenotypic spectrum of many classical IKDs. Read More

    Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
    Oncotarget 2017 Sep 29;8(37):61415-61424. Epub 2017 May 29.
    U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy.
    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. Read More

    Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed.
    J Nephropathol 2017 Jul 5;6(3):130-133. Epub 2017 Feb 5.
    University of Western Australia, Crawley, Perth, Australia.
    Background: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is often delayed by many years. Read More

    The Ability of Nitric Oxide to Lower Intraocular Pressure Is Dependent on Guanylyl Cyclase.
    Invest Ophthalmol Vis Sci 2017 Sep;58(11):4826-4835
    Anesthesia Center for Critical Care Research, Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, Massachusetts, United States.
    Purpose: While nitric oxide (NO) donors are emerging as treatments for glaucoma, the mechanism by which NO lowers intraocular pressure (IOP) is unclear. NO activates the enzyme guanylyl cyclase (GC) to produce cyclic guanosine monophosphate. We studied the ocular effects of inhaled and topically applied NO gas in mice and lambs, respectively. Read More

    Impact of cardio-renal syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up.
    Int J Cardiol 2017 Dec 19;249:261-267. Epub 2017 Sep 19.
    Department of Internal Medicine, University Hospital of Zurich, Switzerland. Electronic address:
    Aims: Fabry disease (FD) is a rare X-linked lysosomal storage disease with a deficiency of α-galactosidase A leading to progressive sphingolipid accumulation in different organs, among them heart and kidney. We evaluated the impact of cardio-renal syndrome (CRS) on the incidence of major cardiovascular complications and death in a prospective FD cohort.

    Methods And Results: A total of 104 genetically proven FD patients were annually followed at the University Hospitals Zurich and Bern. Read More

    A prospective, observational study of patients with uncommon distal symmetric painful small-fiber neuropathy.
    PLoS One 2017 28;12(9):e0183948. Epub 2017 Sep 28.
    Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center and Chang Gung University College of Medicine, Taipei, Taiwan.
    Objective: To investigate the clinical characteristics of patients with uncommon distal symmetric painful small-fiber neuropathy (DSPSFN).

    Methods: From September 2012 to September 2014, participants between 18-70 years of age that had DSPSFN defined by clinical signs/symptoms and ID pain > 2 or DN4 > 4 on questionnaires for more than 1 month were included. Participants who had previous historical or laboratory evidence of common etiologies of DSPSFN were excluded. Read More

    Measurement of myocardial native T1 in cardiovascular diseases and norm in 1291 subjects.
    J Cardiovasc Magn Reson 2017 Sep 28;19(1):74. Epub 2017 Sep 28.
    Oxford Centre for Clinical Magnetic Resonance Research (OCMR), Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.
    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. Read More

    Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease.
    Oxid Med Cell Longev 2017 16;2017:9478946. Epub 2017 Aug 16.
    Department of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University, Katerinska 32, 12000 Prague 2, Czech Republic.
    The aim of our study was to assess the possible relationships among heme oxygenase (HMOX), bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variations, serum bilirubin levels, and Fabry disease (FD). The study included 56 patients with FD (M : F ratio = 0.65) and 185 healthy individuals. Read More

    Contribution of inflammatory pathways to Fabry disease pathogenesis.
    Mol Genet Metab 2017 Sep 13. Epub 2017 Sep 13.
    Nephrology and Dialysis Unit, Belcolle Hospital, Viterbo, Italy. Electronic address:
    Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates stimulates the activation of pathogenic cascades, including immunological processes, and particularly the activation of inflammation. In lysosomal storage diseases, the inflammatory response is continuously being activated because the stimulus cannot be eliminated. Read More

    E-Learning for Rare Diseases: An Example Using Fabry Disease.
    Int J Mol Sci 2017 Sep 24;18(10). Epub 2017 Sep 24.
    Dipartimento di Biologia, Università Federico II, 80126 Napoli, Italy.
    Background: Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example. Read More

    Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
    Am J Med 2017 Sep 21. Epub 2017 Sep 21.
    Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass.
    Background: Fabry disease is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these 2 diseases diverge, with Fabry disease-specific treatment utilizing recombinant α-galactosidase A enzyme replacement therapy.

    Methods: We studied a prospectively assembled consecutive cohort of 585 patients (71% male) from 2 hypertrophic cardiomyopathy tertiary referral centers by screening for low α-galactosidase A activity in dried blood spots. Read More

    The p.Arg118Cys Variant in the GLA Gene Does not Cause Fabry Disease. More Evidence.
    Rev Esp Cardiol (Engl Ed) 2017 Sep 20. Epub 2017 Sep 20.
    Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario de A Coruña, Instituto de Investigación Biomédica de A Coruña (INIBIC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain. Electronic address:

    Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease.
    Future Cardiol 2017 Nov 22;13(6):521-527. Epub 2017 Sep 22.
    Division of Cardiology Second University of Naples - AO dei Colli, Presidio Monaldi, Naples, 80121, Italy.
    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. Read More

    Integrative Systems Biology Investigation of Fabry Disease.
    Diseases 2016 Nov 15;4(4). Epub 2016 Nov 15.
    Institute of Cardiovascular and Medical Sciences, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow, G12 8TA, UK.
    Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules. Read More

    Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.
    Diseases 2017 Jun 11;5(2). Epub 2017 Jun 11.
    Service of Nephrology, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
    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. Read More

    The role of epigenetics in lysosomal storage disorders: Uncharted territory.
    Mol Genet Metab 2017 Aug 1. Epub 2017 Aug 1.
    Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, United States.
    The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood. Read More

    [Fabry disease: An overlooked diagnosis in adult cardiac patients].
    Turk Kardiyol Dern Ars 2017 Sep;45(6):549-555
    Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey.
    Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Read More

    A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
    Nephron 2017 Sep 12. Epub 2017 Sep 12.
    Department of Internal Medicine, Universidade Federal de Goiás, Goiânia, Brazil.
    Background/aims: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. Read More

    The influence of hospital volume on long-term oncological outcome after rectal cancer surgery.
    Int J Colorectal Dis 2017 Dec 7;32(12):1741-1747. Epub 2017 Sep 7.
    Department of Surgery, Academic Medical Center, Amsterdam, The Netherlands.
    Purpose: The association between hospital volume and outcome in rectal cancer surgery is still subject of debate. The purpose of this study was to assess the impact of hospital volume on outcomes of rectal cancer surgery in the Netherlands in 2011.

    Methods: In this collaborative research with a cross-sectional study design, patients who underwent rectal cancer resection in 71 Dutch hospitals in 2011 were included. Read More

    Fabry disease and incidence of cancer.
    Orphanet J Rare Dis 2017 Sep 6;12(1):150. Epub 2017 Sep 6.
    Royal Free London NHS Foundation Trust, London, UK.
    Background: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. Read More

    Fabry disease in children: a federal screening programme in Russia.
    Eur J Pediatr 2017 Oct 4;176(10):1385-1391. Epub 2017 Sep 4.
    Laboratory of Molecular Genetics and Cell Biology, Federal State Autonomous Institution "Scientific Center of Children's Health" of the Ministry of Health of the Russian Federation, Moscow, Russia.
    Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Read More

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