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Fabry disease screening

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https://www.readbyqxmd.com/read/28409012/enhancing-the-diagnosis-of-fabry-disease-in-cardiology-with-a-targeted-information-a-before-after-control-impact-study
#1
Anne-Louise Savary, Remy Morello, Carole Brasse-Lagnel, Paul Milliez, Soumeya Bekri, Fabien Labombarda
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. METHODS: We conducted a before-after control-impact study by comparing observations made before and after targeted information on Fabry disease among cardiologists...
2017: Open Heart
https://www.readbyqxmd.com/read/28384397/high-risk-screening-for-fabry-disease-analysis-by-tandem-mass-spectrometry-of-globotriaosylceramide-gb3-in-urine-collected-on-filter-paper
#2
Christiane Auray-Blais, Pamela Lavoie, Michel Boutin, Mona Abaoui
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. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X-linked disease, more than 600 mutations affect both males and females. In fact, some females may be affected as severely as males...
April 6, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28360401/mutational-analysis-of-the-gla-gene-in-mexican-families-with-fabry-disease
#3
Bianca Ethel Gutiérrez-Amavizca, Andreas Gal, Rocío Ortíz-Orozco, Ulrich Orth, Ernesto Prado Montes De Oca, Jaime Paul Gutiérrez-Amavizca, Luis E Figuera
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. In this study, we investigated mutations in the GLA gene, which encodes α-Gal A, in Mexican families with FD...
March 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28340804/preliminary-screening-results-of-fabry-disease-in-kidney-transplantation-patients-a-single-center-study
#4
M Yılmaz, S K Uçar, G Aşçı, E Canda, F A Tan, C Hoşcoşkun, M Çoker, H Töz
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. In this study, 1095 male and female patients were included. Dried blood samples on Guthrie papers were used to analyze galactosidase A enzyme for male patients...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28302345/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
#5
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
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...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28299312/genetic-screening-of-mutations-associated-with-fabry-disease-in-a-nationwide-cohort-of-juvenile-idiopathic-arthritis-patients
#6
Maria J Gonçalves, Ana F Mourão, António Martinho, Olívia Simões, José Melo-Gomes, Manuel Salgado, Paula Estanqueiro, Célia Ribeiro, Iva Brito, João E Fonseca, Helena Canhão
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. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28283366/the-frequency-of-fabry-disease-among-young-cryptogenic-stroke-patients-in-the-city-of-sakarya
#7
Aslı Aksoy Gündoğdu, Dilcan Kotan, Murat Alemdar
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. METHODS: Acute ischemic stroke patients aged 18-55 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion...
March 7, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28275245/prevalence-of-fabry-disease-and-gla-c-196g-c-variant-in-japanese-stroke-patients
#8
Kiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, Kimitoshi Nakamura, Kiyoko Hattori, Masao Ota, Yusaku Shimizu, Fumio Endo, Shu-Ichi Ikeda
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 (61.7% men; average age 74.1±12.5 years) were enrolled in this prospective study. Blood samples were obtained to produce blood spots to determine α-galactosidase A (α-GalA) activity and for GLA gene analysis. One 65-year-old female patient had a known GLA gene mutation, c...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28224042/a-new-mutation-found-in-newborn-screening-for-fabry-disease-evaluated-by-plasma-globotriaosylsphingosine-levels
#9
Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama, Kimitoshi Nakamura
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
2017: Human Genome Variation
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
MULTICENTER STUDY
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 2017: Renal Failure
https://www.readbyqxmd.com/read/27773586/plasma-lysogb3-a-useful-biomarker-for-the-diagnosis-and-treatment-of-fabry-disease-heterozygotes
#20
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
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