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    3825 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome

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    Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.
    Scand Cardiovasc J 2017 May 25:1-10. Epub 2017 May 25.
    e Department of Cardiology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.
    Objectives: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We assessed and compared long-term progression of cardiac involvement according to ERT and non-ERT. Read More

    New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study.
    Mol Genet Metab 2017 May 13. Epub 2017 May 13.
    Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, United Kingdom.
    Background: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2. Read More

    Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.
    Int J Nephrol 2017 24;2017:1287289. Epub 2017 Apr 24.
    IFIBIO Houssay, CONICET, Physiopathology, Pharmacy and Biochemistry Faculty, Universidad de Buenos Aires, Buenos Aires, Argentina.
    Background. Despite enzyme replacement therapy, Fabry nephropathy still progresses. Podocyturia is an irreversible event that antedates proteinuria and leads to chronic renal failure. Read More

    Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
    JIMD Rep 2017 May 17. Epub 2017 May 17.
    Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
    Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. Read More

    Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.
    Mol Genet Metab Rep 2017 Jun 4;11:65-68. Epub 2017 May 4.
    GADYTEF (Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Fabry), Argentina.
    Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters.

    Methods: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Read More

    Conjunctival lymphangiectasia associated with classic Fabry disease.
    Br J Ophthalmol 2017 May 12. Epub 2017 May 12.
    Department of Optometry and Vision Science, University of Alabama at Birmingham, Birmingham, Alabama, USA.
    Background: Fabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD. Read More

    Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
    BMC Nephrol 2017 May 12;18(1):157. Epub 2017 May 12.
    Nephropathology Service, Federal University of Triângulo Mineiro, Praça Manoel Terra, 330, Uberaba, MG, CEP: 38015-050, Brazil.
    Background: Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced renal phospholipidosis.

    Case Presentation: Case 1: A 28-year-old female patient with systemic lupus erythematosus who had been using hydroxychloroquine for 14 months presented subnephrotic proteinuria. Read More

    [Cryptogenic stroke in a young patient with heart disease and kidney failure].
    Rev Neurol 2017 May;64(10):454-458
    Hospital Universitario de Torrejon, Torrejon de Ardoz, Espana.
    Introduction: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms.

    Case Report: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. Read More

    Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
    Int Heart J 2017 May 12. Epub 2017 May 12.
    2nd Department of Internal Medicine and Cardiology Centre, University of Szeged.
    Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p. Read More

    Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
    Mol Genet Metab 2017 May 4. Epub 2017 May 4.
    Department of Endocrinology and Metabolism, Academic Medical Center, The Netherlands. Electronic address:
    Background: The level of plasma globotriaosylsphingosine (lysoGb3) is an indication of disease severity in Fabry disease (FD) and its decrease during enzyme replacement therapy could be a reflection of treatment efficacy. Early treatment of FD may improve clinical outcome, but data to support this hypothesis are scarce. In this study we compared lysoGb3 decrease after ERT initiation in men with classical FD who started ERT before the age of 25 (early-treatment) with those who started later in life (late-treatment). Read More

    Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period.
    Ir J Med Sci 2017 May 3. Epub 2017 May 3.
    Department of Neurology, Saint Vincent's University Hospital, Dublin, Ireland.
    Background: Fabry disease is an X-linked recessive lysosomal storage disorder that provokes multi-organ morbidity, including early-onset stroke. Worldwide prevalence may be greater than previously estimated, with many experiencing first stroke prior to diagnosis of Fabry disease.

    Aims: The aim of this study is to screen a cohort of stroke patients under 70 years of age, evaluating the clinical and economic efficacy of such a broad screening programme for Fabry disease. Read More

    Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
    PLoS One 2017 21;12(4):e0175929. Epub 2017 Apr 21.
    Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.
    While a base substitution in intron 4 of GLA (IVS4+919G>A) that causes aberrant alternative splicing resulting in Fabry disease has been reported, its molecular mechanism remains unclear. Here we reported that upon IVS4+919G>A transversion, H3K36me3 was enriched across the alternatively spliced region. PSIP1, an adapter of H3K36me3, together with Hsp70 and NONO were recruited and formed a complex with SF2/ASF and SRp20, which further promoted GLA splicing. Read More

    Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.
    Nephrology (Carlton) 2017 Jun;22(6):490-493
    Graduate Program in Biological Sciences: Biochemistry, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
    Fabry disease (FD) is a lysosomal disorder caused by mutations leading to a deficient activity α-galactosidase A with progressive and systemic accumulation of its substrates. Substrates deposition is related to tissue damage in FD, but the underlying molecular mechanisms remain not completely understood. DNA damage has been associated with disease progression in chronic diseases and was recently described in high levels in Fabry patients. Read More

    Treatment of Depression in Adults with Fabry Disease.
    JIMD Rep 2017 Apr 18. Epub 2017 Apr 18.
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
    Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Read More

    Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study.
    Open Heart 2017 13;4(1):e000567. Epub 2017 Mar 13.
    Department of Cardiology, CHU de Caen, Caen, France.
    Background: Cardiac complications in Fabry disease are frequent and dominated by a high frequency of left ventricular hypertrophy; therefore, cardiologists may have an essential role in screening for this disease. Providing cardiologists with targeted information on Fabry disease would be valuable and could reduce both diagnostic and therapeutic delays. The aim of this study was to evaluate the efficiency of such strategy for Fabry screening. Read More

    Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study.
    Neurology 2017 May 12;88(19):1822-1829. Epub 2017 Apr 12.
    From the Department of Advanced Biomedical Sciences (S.C., G.O., L.U., A.B., E.T.), Department of Public Health (A.P., E.R., S.M.), Nephrology Unit, and Department of Neurosciences and Reproductive and Odontostomatological Sciences (F.S., V.B.M.), University "Federico II"; and Institute of Biostructure and Bioimaging (M.Q.), National Research Council, Naples, Italy.
    Objective: To evaluate the presence of functional connectivity (FC) alterations of the motor circuits in patients with Fabry disease (FD) and their possible correlation with clinical variables with a resting-state (RS) fMRI analysis.

    Methods: In our cross-sectional study, 32 patients with FD with genetically confirmed classic diagnosis of FD (12 men, mean age 43.3 ± 12. Read More

    Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis.
    Neuroradiology 2017 Jun 6;59(6):563-570. Epub 2017 Apr 6.
    Department of Public Health, Nephrology Unit, University "Federico II", Naples, Italy.
    Purpose: Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS.

    Methods: In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. Read More

    High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper.
    Curr Protoc Hum Genet 2017 Apr 6;93:17.26.1-17.26.12. Epub 2017 Apr 6.
    Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
    Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Read More

    Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease.
    Korean Circ J 2017 Mar 13;47(2):278-281. Epub 2017 Mar 13.
    Department of Pathology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. Read More

    The Coexistence of Multiple Myeloma-associated Amyloid Light-chain Amyloidosis and Fabry Disease in a Hemodialysis Patient.
    Intern Med 2017 1;56(7):841-846. Epub 2017 Apr 1.
    Division of Nephrology, Department of Medicine, Kurume University School of Medicine, Japan.
    Fabry disease (FD) is an inherited lysosomal disorder caused by an X-linked α-galactosidase A deficiency. We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms. An endoscopic analysis revealed multiple gastric ulcers, and a histological examination led to a diagnosis of amyloid light-chain amyloidosis. Read More

    Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?
    Mol Genet Metab Rep 2017 Jun 25;11:8-11. Epub 2017 Mar 25.
    Department of Pathology, Sanofi Genzyme, Framingham, MA, USA.
    Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement. We report the occurrence of chronic intestinal pseudo-obstruction in two unrelated patients with Fabry disease and the possible explanation of a direct relation of these two disorders. Read More

    Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
    Mol Genet Metab 2017 May 24;121(1):22-27. Epub 2017 Mar 24.
    Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan. Electronic address:
    Background: The GLA IVS4+919G>A which is linked to late-onset Fabry disease shows high frequency in Taiwan.

    Methods: To determine whether IVS4+919G>A is a frequent cause of heart disease, we genotyped it in normal controls and other disease cohorts (type 2 diabetes, heart failure, ventricular tachycardia, atrial fibrillation and coronary artery disease). Normal controls and diabetes patients carrying the variant were evaluated for their cardiac condition. Read More

    Diastereomer-specific Quantification of Bioactive Hexosylceramides from Bacteria and Mammals.
    J Lipid Res 2017 Apr 3. Epub 2017 Apr 3.
    German Cancer Research Center, Germany;
    Mammals synthesize cell-type specifically the diastereomeric hexosylceramides β-galactosylceramide (β-GalCer) and β-glucosylceramide (β-GlcCer), which are involved in several diseases such as sphingolipidosis, diabetes, chronic kidney diseases, or cancer. In contrast Bacteroides fragilis, a member of the human gut microbiome, and the marine sponge Agelas mauritianus produce α-galactosylceramide (α-GalCer), one of the most potent stimulators for iNKT cells. To dissect the contribution of these individual stereoisomers to pathologies, we established a novel HILIC based LC MS(2) method and separate (R > 1. Read More

    Parapelvic cysts, a distinguishing feature of renal Fabry disease.
    Nephrol Dial Transplant 2017 Mar 28. Epub 2017 Mar 28.
    Chair of Nephrology, Second University of Naples, Naples, Italy.
    Background.: Fabry's disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of the enzyme α-galactosidase A, and is difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence and significance are unclear. Read More

    Mutational analysis of the GLA gene in Mexican families with Fabry disease.
    J Genet 2017 Mar;96(1):161-164
    División de Genética, Centro de Investigación Biomédica de Occidente, IMSS; Doctorado en Genética Humana, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, CP. 44340, Guadalajara, Jalisco, México.
    Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems, but it is generally considered to affect primarily vascular endothelium. Read More

    Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.
    Biosci Rep 2017 Apr 28;37(2). Epub 2017 Apr 28.
    Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559 Hannover, Germany
    It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The present communication investigates the effects of the mutation N215S in FD on the trafficking and processing of lysosomal GAA and their potential association with alterations in the membrane lipid composition. Abnormalities in lipid rafts (LRs) were observed in fibroblasts isolated from a male patient with FD bearing the mutation N215S. Read More

    Preliminary Screening Results of Fabry Disease in Kidney Transplantation Patients: A Single-Center Study.
    Transplant Proc 2017 Apr;49(3):420-424
    Department of Nephrology, Ege University, School of Medicine, Izmir, Turkey.
    Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of alfa-galactosidase A (AGALA) and leads to progressive impairment of renal function in almost all male patients and in a significant proportion of female patients. FD is underdiagnosed or even misdiagnosed in patients undergoing kidney transplantation. We initiated a selective screening study for FD among kidney transplant patients in our center. Read More

    Fabry disease: A fundamental genetic modifier of cardiac function.
    Curr Res Transl Med 2017 Jan - Mar;65(1):10-14. Epub 2016 Nov 2.
    Département de Biochimie, Centre Hospitalier de l'Université de Montréal, Hôpital Saint-Luc, 1058, rue Saint-Denis, H2X 3J4 Montréal, Québec, Canada; Département de Biochimie et Médecine Moléculaire, Université de Montréal, PO Box 6128, Station Centre-ville, H3C 3J7, Montréal, Québec, Canada. Electronic address:
    Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction. Read More

    A novel mutation and in vivo confocal microscopic findings in Fabry disease.
    Saudi J Ophthalmol 2017 Jan-Mar;31(1):45-47. Epub 2017 Jan 3.
    Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey.
    Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Read More

    [The Fabry's Disease Cardiomyopathy as Differential Diagnosis of Acute Coronary Syndrome].
    Dtsch Med Wochenschr 2017 Mar 22;142(6):442-449. Epub 2017 Mar 22.
    The progressive cardiomyopathy in patients with Fabry disease is often accompanied by angina pectoris and elevated levels of high-sensitive troponin T (hs-TnT), potentially mimicking acute coronary syndrome. Here, we present to representative cases with focus on clinical, diagnostic and therapeutic settings. An overview on the cardiomyopathy associated with Fabry disease and its role as differential diagnosis of acute coronary syndrome is provided. Read More

    The Impact of Fabry Disease on Reproductive Fitness.
    JIMD Rep 2017 Mar 22. Epub 2017 Mar 22.
    University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
    Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Read More

    Incorporation of Autopsy Case-Based Learning into PhD Graduate Education: a Novel Approach to Bridging the 'Bench to Bedside' Gap.
    Hum Pathol 2017 Mar 15. Epub 2017 Mar 15.
    University of Wisconsin Hospital and Clinics, Department of Pathology and Laboratory Medicine.
    Given the current rapid expansion of biological knowledge and the challenges of translating that knowledge into clinical practice, finding effective methods of teaching graduate students clinical medicine concepts has become even more critical. The utility of autopsy in medical student and resident education has been well-established. Multiple studies have reported it to be a helpful means of teaching anatomy, pathophysiology, clinical problem-solving skills, and medical diagnostic techniques. Read More

    Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
    Mol Genet Metab 2017 May 9;121(1):16-21. Epub 2017 Mar 9.
    Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico; Facultad Mexicana de Medicina, Universidad La Salle, Mexico City, Mexico. Electronic address:
    Objective: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services).

    Study Design: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis. Read More

    Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy.
    Biochem Biophys Res Commun 2017 Apr 12;486(2):293-299. Epub 2017 Mar 12.
    School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. Electronic address:
    Objectives: The level of 8-hydroxy-2-deoxyguanosise (8-OHdG) is a marker of oxidative stress. The objective of this study was to evaluate the effect of enzyme replacement therapy (ERT) on the level of 8-OHdG in patients with Fabry cardiomyopathy and the clinical evolution of Fabry cardiomyopathy.

    Methods: We measured the serum levels of 8-OHdG in 20 healthy control and 22 patients with Fabry cardiomyopathy before and after ERT. Read More

    Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.
    Front Med (Lausanne) 2017 1;4:12. Epub 2017 Mar 1.
    EpiDoC, CEDOC, Nova Medical School , Lisbon , Portugal.
    Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Read More

    Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.
    PLoS One 2017 15;12(3):e0173358. Epub 2017 Mar 15.
    Department of Internal Medicine, Nephrology Service, Federal University of Paraná, Curitiba, Brazil.
    Background: Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival. A Cochrane review provided little evidence on the use of enzyme replacement therapy (ERT). Read More

    Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease.
    Acta Neurol Scand 2017 Mar 12. Epub 2017 Mar 12.
    Neurological Department, Kaiser-Franz Josef Spital, Vienna, Austria.
    Objectives: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD.

    Methods: Literature review. Read More

    The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya.
    J Stroke Cerebrovasc Dis 2017 Jun 7;26(6):1334-1340. Epub 2017 Mar 7.
    Department of Neurology, Sakarya University Training and Research Hospital, Sakarya, Turkey.
    Background: Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. Read More

    Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease.
    Int Ophthalmol 2017 Mar 9. Epub 2017 Mar 9.
    Department of Ophthalmology, Tepecik Education and Research Hospital, 35260, Izmir, Turkey.
    Purpose: To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION).

    Methods: Case report.

    Results: An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Read More

    The mutation p.D313Y is associated with organ manifestation in Fabry disease.
    Clin Genet 2017 Mar 9. Epub 2017 Mar 9.
    Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
    Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Read More

    Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.
    J Hum Genet 2017 Mar 9. Epub 2017 Mar 9.
    Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
    Fabry disease is an important underlying disease in young cryptogenic stroke patients. However, little is known regarding the frequency of Fabry disease in the general stroke population, especially in elderly patients. A total of 588 stroke patients (61. Read More

    Further investigation of phenotypes and confounding factors of progressive ratio performance and feeding behavior in the BACHD rat model of Huntington disease.
    PLoS One 2017 8;12(3):e0173232. Epub 2017 Mar 8.
    Institute of Medical Genetics and Applied Genomics, Tuebingen, Tuebingen, Germany.
    Huntington disease is an inherited neurodegenerative disorder characterized by motor, cognitive, psychiatric and metabolic symptoms. We recently published a study describing that the BACHD rat model of HD shows an obesity phenotype, which might affect their motivation to perform food-based behavioral tests. Further, we argued that using a food restriction protocol based on matching BACHD and wild type rats' food consumption rates might resolve these motivational differences. Read More

    Benchmarking recent national practice in rectal cancer treatment with landmark randomised controlled trials.
    • Authors:
    Colorectal Dis 2017 Mar 4. Epub 2017 Mar 4.
    Aim: A Snapshot study design eliminates changes in treatment and outcome over time. This population based Snapshot study aimed to determine current practice and outcome of rectal cancer treatment with published landmark randomised controlled trials (RCTs) as a benchmark.

    Methods: In this collaborative research project, the dataset of the Dutch Surgical Colorectal Audit was extended with additional treatment and long-term outcome data. Read More

    Loss of base-to-apex circumferential strain gradient: A specific pattern of Fabry cardiomyopathy?
    Echocardiography 2017 Apr 2;34(4):504-510. Epub 2017 Mar 2.
    Department of Internal Medicine, Caen CHU, Caen, France.
    Introduction And Objectives: Cardiac manifestations in Fabry disease are mainly characterized by left ventricular hypertrophy (LVH). The aims of this study were (1) to describe the pattern of regional strain in patients with Fabry disease and (2) to assess whether this pattern may help differentiate patients with Fabry disease from patients with sarcomeric hypertrophic cardiomyopathy (HCM).

    Methods: Seventy-seven subjects were investigated: patients with Fabry disease (n=37; 57% with LVH), patients with HCM (n=21), and healthy controls (n=19). Read More

    Hereditary cerebral small vessel disease and stroke.
    Clin Neurol Neurosurg 2017 Apr 22;155:45-57. Epub 2017 Feb 22.
    Department of Neurology, Copenhagen University Hospital, Bispebjerg, Denmark.
    Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. Read More

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