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Fabry disease screening

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https://www.readbyqxmd.com/read/28152533/mild-left-ventricular-hypertrophy-unravels-a-novel-nonsense-mutation-of-the-gla-gene-associated-with-the-classical-phenotype-of-fabry-disease
#1
Olga Azevedo, Miguel Gago, Gabriel Miltenberger-Miltenyi, Paulo Gaspar, Nuno Sousa, Damião Cunha
We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family...
February 3, 2017: Cardiology
https://www.readbyqxmd.com/read/28098320/versatile-tissue-lasers-based-on-high-q-fabry-p%C3%A3-rot-microcavities
#2
Yu-Cheng Chen, Qiushu Chen, Tingting Zhang, Wenjie Wang, Xudong Fan
Biolasers are an emerging technology for next generation biochemical detection and clinical applications. Progress has recently been made to achieve lasing from biomolecules and single living cells. Tissues, which consist of cells embedded in an extracellular matrix, mimic more closely the actual complex biological environment in a living body and therefore are of more practical significance. Here, we developed a highly versatile tissue laser platform, in which tissues stained with fluorophores are sandwiched in a high-Q Fabry-Pérot microcavity...
January 31, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28090261/fabry-disease-presenting-with-hypertrophic-cardiomyopathy-and-tricuspid-regurgitation
#3
Sang-Cheol Cho, Han-Wook Yoo, Jae Won Lee, Jeong Yoon Jang, Ran Heo, Jong-Min Song
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c...
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28049500/metabolic-progression-to-clinical-phenotype-in-classic-fabry-disease
#4
Marco Spada, David Kasper, Veronica Pagliardini, Elisa Biamino, Silvana Giachero, Francesco Porta
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood...
January 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28006774/the-prevalence-of-fabry-disease-in-patients-with-chronic-kidney-disease-in-turkey-the-turkfab-study
#5
Kultigin Turkmen, Aydın Guclu, Garip Sahin, Ismail Kocyigit, Levent Demirtas, Fatih Mehmet Erdur, Erkan Sengül, Oktay Ozkan, Habib Emre, Faruk Turgut, Hilmi Unal, Murat Karaman, Cengiz Acıkel, Hasan Esen, Ebru Balli, Gulfidan Bıtırgen, Halil Zeki Tonbul, Mahmut Ilker Yılmaz, Alberto Ortiz
BACKGROUND/AIMS: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. METHODS: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy...
2016: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/27998644/screening-diagnosis-and-management-of-patients-with-fabry-disease-conclusions-from-a-kidney-disease-improving-global-outcomes-kdigo-controversies-conference
#6
Raphael Schiffmann, Derralynn A Hughes, Gabor E Linthorst, Alberto Ortiz, Einar Svarstad, David G Warnock, Michael L West, Christoph Wanner
Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, and management of FD, and included enzyme replacement therapy and nonspecific standard-of-care therapy for the various manifestations of FD. Despite marked advances in patient care and improved overall outlook, there is a need to better understand the pathogenesis of this glycosphingolipidosis and to determine the appropriate age to initiate therapy in all types of patients...
February 2017: Kidney International
https://www.readbyqxmd.com/read/27983599/using-crispr-cas9-mediated-gla-gene-knockout-as-an-in-vitro-drug-screening-model-for-fabry-disease
#7
Hui-Yung Song, Huai-Chih Chiang, Wei-Lien Tseng, Ping Wu, Chian-Shiu Chien, Hsin-Bang Leu, Yi-Ping Yang, Mong-Lien Wang, Yuh-Jyh Jong, Chung-Hsuan Chen, Wen-Chung Yu, Shih-Hwa Chiou
The CRISPR/Cas9 Genome-editing system has revealed promising potential for generating gene mutation, deletion, and correction in human cells. Application of this powerful tool in Fabry disease (FD), however, still needs to be explored. Enzyme replacement therapy (ERT), a regular administration of recombinant human α Gal A (rhα-GLA), is a currently available and effective treatment to clear the accumulated Gb3 in FD patients. However, the short half-life of rhα-GLA in human body limits its application. Moreover, lack of an appropriate in vitro disease model restricted the high-throughput screening of drugs for improving ERT efficacy...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27931613/later-onset-fabry-disease-cardiac-damage-progress-in-silence-experience-with-a-highly-prevalent-mutation
#8
Ting-Rong Hsu, Sheng-Che Hung, Fu-Pang Chang, Wen-Chung Yu, Shih-Hsien Sung, Chia-Lin Hsu, Ivan Dzhagalov, Chia-Feng Yang, Tzu-Hung Chu, Han-Jui Lee, Yung-Hsiu Lu, Sheng-Kai Chang, Hsuan-Chieh Liao, Hsiang-Yu Lin, Tsan-Chieh Liao, Pi-Chang Lee, Hsing-Yuan Li, An-Hang Yang, Hui-Chen Ho, Chuan-Chi Chiang, Ching-Yuang Lin, Robert J Desnick, Dau-Ming Niu
BACKGROUND: Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic populations in the world. However, the natural history of its phenotype has not been systemically investigated, especially the cardiac involvement. OBJECTIVES: The study analyzed a large-scale newborn screening program for FD to understand the natural course of later onset FD...
December 13, 2016: Journal of the American College of Cardiology
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/27832731/screening-fabry-s-disease-in-chronic-kidney-disease-patients-not-on-dialysis-a-multicenter-study
#10
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/27773586/plasma-lysogb3-a-useful-biomarker-for-the-diagnosis-and-treatment-of-fabry-disease-heterozygotes
#11
Albina Nowak, Thomas P Mechtler, Robert J Desnick, David C Kasper
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result in absent or markedly reduce α-galactosidase A (α-GalA) enzymatic activity. As a result, the major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate in plasma, urine and tissue lysosomes. In females, the diagnosis can be complicated by the fact that 40-50% of GLA-mutation confirmed heterozygotes have normal or only slightly decreased leukocyte α-GalA activities...
October 19, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27727434/high-risk-screening-of-fabry-disease-analysis-of-fifteen-urinary-methylated-and-non-methylated-gb3-isoforms-using-tandem-mass-spectrometry
#12
Mona Abaoui, Michel Boutin, Pamela Lavoie, Christiane Auray-Blais
Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and resulting in the accumulation of glycosphingolipids in different tissues and biological fluids. Glycosphingolipid biomarkers, such as globotriaosylceramide (Gb3 ) isoforms, globotriaosylsphingosine (lyso-Gb3 ) and related analogs, and galabiosylceramide (Ga2 ) isoforms and analogs, are found to be abnormally increased in urine and in plasma of Fabry patients and have the potential to be used as specific biomarkers of the disease...
October 11, 2016: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/27591925/patients-perspectives-on-newborn-screening-for-later-onset-lysosomal-storage-diseases
#13
Emily C Lisi, Scott Gillespie, Dawn Laney, Nadia Ali
Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27585509/genetic-screening-of-anderson-fabry-disease-in-probands-referred-from-multispecialty-clinics
#14
Valentina Favalli, Eliana Disabella, Mariadelfina Molinaro, Marilena Tagliani, Anna Scarabotto, Alessandra Serio, Maurizia Grasso, Nupoor Narula, Carmela Giorgianni, Clelia Caspani, Monica Concardi, Manuela Agozzino, Calogero Giordano, Alexandra Smirnova, Takahide Kodama, Lorenzo Giuliani, Elena Antoniazzi, Riccardo G Borroni, Camilla Vassallo, Filippo Mangione, Laura Scelsi, Stefano Ghio, Carlo Pellegrini, Marialuisa Zedde, Laura Fancellu, GianPietro Sechi, Antonello Ganau, Stefania Piga, Annarita Colucci, Daniela Concolino, Maria Teresa Di Mascio, Danilo Toni, Marina Diomedi, Claudio Rapezzi, Elena Biagini, Massimiliano Marini, Maurizia Rasura, Maurizio Melis, Antonia Nucera, Donata Guidetti, Michelangelo Mancuso, Umberto Scoditti, Pamela Cassini, Jagat Narula, Luigi Tavazzi, Eloisa Arbustini
BACKGROUND: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. OBJECTIVES: This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients...
September 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27576502/targeted-screening-of-fabry-disease-in-male-hemodialysis-patients-in-brazil-highlights-importance-of-family-screening
#15
Cassiano Augusto Braga Silva, Fellype Carvalho Barreto, Marlene Antonia Dos Reis, José Andrade Moura Junior, Constança Margarida Sampaio Cruz
INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder caused by enzyme α galactosidase A (α-Gal A) deficiency due to mutations in the galactosidase alpha (GLA) gene. It leads to damage several organs, such as the kidneys, due to progressive accumulation of glycosphingolipids. OBJECTIVE: To estimate the prevalence of FD among male hemodialysis (HD) patients in a northern state of Brazil. METHODS: Screening was performed using a dried blood spot on filter paper to identify patients with low α-Gal A enzyme activity (≤2...
2016: Nephron
https://www.readbyqxmd.com/read/27508243/dataset-and-standard-operating-procedure-for-newborn-screening-of-six-lysosomal-storage-diseases-by-tandem-mass-spectrometry
#16
Susan Elliott, Norman Buroker, Jason J Cournoyer, Anna M Potier, Joseph D Trometer, Carole Elbin, Mack J Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H Gelb, C Ronald Scott
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes...
September 2016: Data in Brief
https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#17
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27440509/simultaneous-testing-for-6-lysosomal-storage-disorders-and-x-adrenoleukodystrophy-in-dried-blood-spots-by-tandem-mass-spectrometry
#18
Silvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, Devin Oglesbee, Kimiyo M Raymond, Piero Rinaldo, Dietrich Matern
BACKGROUND: Newborn screening for lysosomal storage disorders (LSD) has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis. We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal disorders in patients presenting with diverse phenotypes at any age. METHODS: Three 3-mm dried blood spot (DBS) punches were placed into individual microtiter plates. One disc was treated with a cocktail containing acid sphingomyelinase-specific substrate and internal standard (IS)...
September 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27381737/limited-responsiveness-related-to-the-minimal-important-difference-of-patient-reported-outcomes-in-rare-diseases
#19
REVIEW
Bradley C Johnston, Patricia A Miller, Arnav Agarwal, Sohail Mulla, Rabia Khokhar, Kyle De Oliveira, Christine L Hitchcock, Behnam Sadeghirad, Mukarram Mohiuddin, Nigar Sekercioglu, Michal Seweryn, Magdalena Koperny, Malgorzata M Bala, Thomasin Adams-Webber, Alicia Granados, Alaa Hamed, Mark W Crawford, Ans T van der Ploeg, Gordon H Guyatt
OBJECTIVES: To explore the responsiveness of patient-reported outcomes (PROs) in interventional studies involving patients with rare lysosomal storage diseases (LSDs). STUDY DESIGN AND SETTING: We searched eight databases for experimental and nonexperimental studies. Pairs of trained reviewers independently screened articles and subsequently extracted data from the eligible studies. Among studies with 10 or more patients using a valid PRO, we assessed the responsiveness of PROs based on a reanalysis of the data using minimal important difference estimates...
November 2016: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/27333905/59-year-old-female-with-breathlessness
#20
Alessandra Scatteia, Estefania De Garate, Chiara Bucciarelli-Ducci
CLINICAL INTRODUCTION: A 59-year-old female underwent an electrocardiogram (ECG) and echocardiographic screening. Her brother died at quite a young age of kidney failure. Resting ECG showed borderline voltage criteria for left ventricular hypertrophy (LVH), with marked widespread T-wave inversion. Echocardiogram was normal, but in consideration of exertional breathlessness and abnormal baseline ECG, she underwent a coronary angiogram, which showed unobstructed coronaries. She was then referred to have a cardiac MR (CMR) for further characterisation...
October 15, 2016: Heart: Official Journal of the British Cardiac Society
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