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Fabry disease

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https://www.readbyqxmd.com/read/29330335/fabry-disease-prevalence-of-affected-males-and-heterozygotes-with-pathogenic-gla-mutations-identified-by-screening-renal-cardiac-and-stroke-clinics-1995-2017
#1
Dana Doheny, Ram Srinivasan, Silvere Pagant, Brenden Chen, Makiko Yasuda, Robert J Desnick
BACKGROUND: Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatory GLA mutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29326878/ten-year-long-enzyme-replacement-therapy-shows-a-poor-effect-in-alleviating-giant-leg-ulcers-in-a-male-with-fabry-disease
#2
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326873/motor-involvement-in-fabry-disease
#3
Sirio Cocozza, Lorenzo Ugga, Giuseppe Pontillo, Camilla Russo, Enrico Tedeschi, Antonio Pisani, Arturo Brunetti
No abstract text is available yet for this article.
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29325843/preoperative-intra-aortic-counterpulsation-in-cardiac-surgery-insights-from-a-retrospective-series-of-588-consecutive-high-risk-patients
#4
Giuseppe Gatti, Laura Morra, Gianluca Castaldi, Luca Maschietto, Florida Gripshi, Enrico Fabris, Andrea Perkan, Bernardo Benussi, Gianfranco Sinagra, Aniello Pappalardo
OBJECTIVE: To support a rational use of preoperative intra-aortic balloon pump (IABP) in cardiac surgery. DESIGN: Retrospective, observational study. SETTING: Single university hospital. PARTICIPANTS: The study included 588 (mean age 68.5 ± 9.6 yr) consecutive patients who received IABP before cardiac surgery from 1999 to 2016. INTERVENTIONS: Coronary surgery was performed in 573 (97.4%) cases...
December 6, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29315984/default-mode-network-modifications-in-fabry-disease-a-resting-state-fmri-study-with-structural-correlations
#5
Sirio Cocozza, Giuseppe Pontillo, Mario Quarantelli, Francesco Saccà, Eleonora Riccio, Teresa Costabile, Gaia Olivo, Vincenzo Brescia Morra, Antonio Pisani, Arturo Brunetti, Enrico Tedeschi
Aim of the study was to evaluate the presence of Default Mode Network (DMN) modifications in Fabry Disease (FD), and their possible correlations with structural alterations and neuropsychological scores. Thirty-two FD patients with a genetically confirmed diagnosis of classical FD (12 males, mean age 43.3 ± 12.2) were enrolled, along with 35 healthy controls (HC) of comparable age and sex (14 males, mean age 42.1 ± 14.5). Resting-State fMRI data were analyzed using a seed-based approach, with six different seeds sampling the main hubs of the DMN...
January 9, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29307789/inner-ear-involvement-in-fabry-disease-clinical-and-audiometric-evaluation-of-a-large-cohort-of-patients-followed-in-a-reference-centre
#6
Jorge Rodrigues, Olga Azevedo, Nuno Sousa, Damião Cunha, Alexandre Mexedo, Rui Fonseca
BACKGROUND: Fabry disease (FD) is a lysosomal storage disorder (LSD) that involves the cochleovestibular system. Tinnitus and progressive sensorineural hearing loss are frequent complains. A stabilization of hearing function has been reported with enzyme replacement therapy (ERT). This study aims to characterize the inner ear involvement, identify factors associated to hearing loss and evaluate the effect of ERT on the hearing function of FD patients. METHODS: We reviewed the clinical records of patients with confirmed diagnosis of FD followed in a Reference Centre on LSD in the North of Portugal...
January 4, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29305833/simple-and-efficient-screening-of-patients-with-fabry-disease-with-high-resolution-melting
#7
Gabriela Pasqualim, Bruna Almeida Dos Santos, Roberto Giugliani, Ursula Matte
BACKGROUND: Fabry disease (FD [MIM: 301500]) is a disorder caused by mutations in the alpha-galactosidase gene (GLA), which presents great allelic heterogeneity. The development of fast screening methods may reduce costs and length of diagnosis, being particularly important for screening programs of high-risk female patients. Therefore, the purpose of this study was to develop a pre-sequencing genetic screening method based on high resolution melting (HRM) analysis. METHODS: We performed HRM analysis in one hundred and three individuals, 79 females and 24 males, with a total of 27 different variants in 30 different genotypes...
January 3, 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29296186/genetic-variants-associated-with-fabry-disease-progression-despite-enzyme-replacement-therapy
#8
Francesca Scionti, Maria Teresa Di Martino, Simona Sestito, Angela Nicoletti, Francesca Falvo, Katia Roppa, Mariamena Arbitrio, Pietro Hiram Guzzi, Giuseppe Agapito, Antonio Pisani, Eleonora Riccio, Daniela Concolino, Licia Pensabene
Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorption, distribution, metabolism, and excretion gene variants in response variability to ERT, genotyping 37 patients with the Affymetrix Drug Metabolizing Enzyme and Transporters (DMET) Plus microarray...
December 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/29290526/rapid-screening-for-lipid-storage-disorders-using-biochemical-markers-expert-center-data-and-review-of-the-literature
#9
M Voorink-Moret, S M I Goorden, A B P van Kuilenburg, F A Wijburg, J M M Ghauharali-van der Vlugt, F S Beers-Stet, A Zoetekouw, W Kulik, C E M Hollak, F M Vaz
BACKGROUND: In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which, combined with chitotriosidase activity may represent a rapid first tier screening for lipid storage disorders. MATERIAL AND METHODS: A lysosphingolipid panel consisting of lysoglobotriaosylceramide (LysoGb3), lysohexosylceramide (LysoHexCer: both lysoglucosylceramide and lysogalactosylceramide), lysosphingomyelin (LysoSM) and its carboxylated analogue lysosphingomyelin-509 (LysoSM-509) was measured in control subjects and plasma samples of predominantly untreated patients affected with lipid storage disorders (n=74)...
December 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29289886/synthesis-of-3s-4s-5s-trihydroxylpiperidine-derivatives-as-enzyme-stabilizers-to-improve-therapeutic-enzyme-activity-in-fabry-patient-cell-lines
#10
Huang-Yi Li, Jay-Der Lee, Chiao-Wen Chen, Ying-Chieh Sun, Wei-Chieh Cheng
A series of 3S,4S,5S-trihydroxylated piperidines bearing structural diversity at C-2 or C-6 positions has been synthesized and tested to determine their ability to stabilize the activity of recombinant human α-Galactosidase A (rh-α-Gal A). Hit molecules were identified by rapid inhibitory activity screening, and then further investigated for their ability to protect this enzyme from thermo-induced denaturation and enhance its activity in Fabry patient cell lines. Our study resulted in the identification of a new class of small molecules as enzyme stabilizers for the potential treatment of Fabry disease...
December 12, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29288396/plasma-lyso-gb3-a-biomarker-for-monitoring-fabry-patients-during-enzyme-replacement-therapy
#11
Hitoshi Sakuraba, Tadayasu Togawa, Takahiro Tsukimura, Hiroshi Kato
BACKGROUND: Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy. METHOD: We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS). We determined the reference interval in Japanese (UMIN000016854), and examined the effect of enzyme replacement therapy (ERT) with recombinant α-galactosidase A (GLA) and the influence of antibodies against the enzyme on the plasma lyso-Gb3 level in Fabry patients (UMIN000017152)...
December 29, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29286471/in-vitro-enzyme-measurement-to-test-pharmacological-chaperone-responsiveness-in-fabry-and-pompe-disease
#12
Jan Lukas, Anne-Marie Knospe, Susanne Seemann, Valentina Citro, Maria V Cubellis, Arndt Rolfs
The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2 to 3 different clinical types according to severity. Moreover, molecular characterization of the genotype can help predict clinical outcomes and inform patient care. Therefore, we developed a simple cell culture assay based on HEK293H cells heterologously over-expressing the mutations identified in Fabry and Pompe disease...
December 20, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29277579/igg4-related-disease-with-possible-myocardial-involvement
#13
Josefa López Vivancos, Lluís Sanchez Sitges, Xavier Herranz Perez, Nelson Leal Bohorquez, Sara Simonetti, Montserrat García Cors
IgG4-related disease is characterized by mass lesions, a dense lymphoplasmacytic infiltrate with immunohistochemical positivity for IgG4, storiform fibrosis and, frequently, elevated serum IgG4 levels. It can be multisystemic; however, myocardial involvement, which is objectively determined by imaging tests, has not been described in the medical literature. We report the case of a man with IgG4-related disease with possible myocardial involvement, detected by cardiac magnetic resonance. This raises the question of a differential diagnosis with other diseases such as sarcoidosis and Fabry disease, the differential diagnosis of which is of great importance due to its therapeutic impact...
December 22, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/29274327/investigation-of-correlation-of-urinary-globotriaosylceramide-gb3-levels-with-markers-of-renal-function-in-patients-with-fabry-disease
#14
Alana Pimentel Moura, Tatiane Hammerschmidt, Marion Deon, Roberto Giugliani, Carmen Regla Vargas
Fabry disease (FD) is a disorder that results from mutations of hydrolase α-galactosidase A. The enzymatic defect leads to accumulation of globotriaosylceramide (Gb3) in the kidney. Substrate deposition is related to tissue damage in FD, but the relation of urinary Gb3 levels in patients and the renal function markers remain not completely understood. Once nephropathy is one of the main features of FD and is marked by an insidious development, we investigated a possible correlation of Gb3 with biochemical markers of nephropathy including albuminuria, estimated glomerular filtration rate (eGFR), serum creatinine and urea, and proteinuria in male and female patients under or not enzyme replacement therapy (ERT)...
December 21, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29266784/polarized-ends-of-human-macula-densa-cells-ultrastructural-investigation-and-morphofunctional-correlations
#15
Angela Maria Cangiotti, Teresa Lorenzi, Maria Cristina Zingaretti, Mara Fabri, Manrico Morroni
The morphology of the kidney macula densa (MD) has extensively been investigated in animals, whereas human studies are scanty. We studied the fine structure of human MD cells focusing on their apical and basal ends and correlating structure and function. The MD region was examined by transmission electron microscopy in six renal biopsies from patients with kidney disease. Ultrastructural analysis of MD cells was performed on serial sections. MD cells show two polarized ends. The apical portion is characterized by a single, immotile cilium associated with microvilli; apically, cells are joined by adhering junctions...
December 20, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29264031/fabry-disease-and-its-cardiac-involvement
#16
REVIEW
Toru Kubo
Fabry disease (FD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multisystemic problems including neurological, ocular, skin, renal, and cardiac manifestations in classical type of FD. The majority of patients with this disease have cardiac involvement that is mainly manifested as left ventricular hypertrophy (LVH). A cardiac variant of FD with late-onset isolated cardiac manifestation has also been recognized...
October 2017: Journal of General and Family Medicine
https://www.readbyqxmd.com/read/29248912/screening-for-fabry-disease-in-kidney-disease-a-cross-sectional-study-in-males-and-females
#17
Luciana Senra de Souza Sodré, Rosália Maria Nunes Henriques Huaira, Marcus Gomes Bastos, Fernando Antônio Basile Colugnati, Marcelo Paula Coutinho, Natália Maria da Silva Fernandes
BACKGROUND/AIMS: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. METHODS: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis...
December 14, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29227985/low-frequency-of-fabry-disease-in-patients-with-common-heart-disease
#18
Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R Benjamin, Jeffrey P Castelli, Jay Barth, Lawrence Sweetman, Xuan Wang, Xiaoyang Wu
PurposeTo test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease.MethodsGlobotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing.ResultsWe tested 2,256 consecutive patients: 852 women (median age 65 years (19-95)) and 1,404 men (median age 65 years (21-92)). The primary diagnoses were coronary artery disease (n = 994), arrhythmia (n = 607), cardiomyopathy (n = 138), and valvular disease (n = 568)...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215092/improvement-in-the-sensitivity-of-newborn-screening-for-fabry-disease-among-females-through-the-use-of-a-high-throughput-and-cost-effective-method-dna-mass-spectrometry
#19
Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Pi-Chang Lee, Yu-Ping Hsieh, Sheng-Che Hung, Yu-Chen Wang, Sheng-Kai Chang, Ya-Ting Lee, Ping-Hsun Ho, Hui-Chen Ho, Dau-Ming Niu
Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel...
November 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29189830/-ambulatory-cardiac-rehabilitation-in-trieste-protocols-of-intervention-activities-and-outcomes
#20
Sara Doimo, Patrizia Maras, Giulia Barbati, Enrico Fabris, Alessio Della Mattia, Kareem Salame, Giuseppe Gatti, Gianfranco Sinagra
BACKGROUND: Cardiac rehabilitation (CR) is a model of care proven to reduce mortality and morbidity in patients with coronary artery disease. The aim of this study is to describe the ambulatory CR model of the Cardiovascular Department of Trieste (Italy), analyzing the outcome of the population. METHODS: We analyzed clinical and instrumental characteristics of all consecutive patients after ST-elevation myocardial infarction (STEMI), non-ST-elevation myocardial infarction (NSTEMI), coronary artery bypass graft with or without valve surgery (CABG/CABGV), or planned percutaneous coronary intervention (PCI), referred for CR from January 1, 2009, to December 31, 2015...
December 2017: Giornale Italiano di Cardiologia
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