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Fabry's disease

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https://www.readbyqxmd.com/read/28430823/modulation-the-alternative-splicing-of-gla-ivs4-919g-a-in-fabry-disease
#1
Wen-Hsin Chang, Dau-Ming Niu, Chi-Yu Lu, Shyr-Yi Lin, Ta-Chih Liu, Jan-Gowth Chang
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. Amiloride, a splicing regulator in cancer cells, could reverse aberrant histone modification patterns and disrupt the association of splicing complex with GLA...
2017: PloS One
https://www.readbyqxmd.com/read/28429522/globotriaosylsphingosine-induces-oxidative-dna-damage-in-cultured-kidney-cells
#2
Giovana Brondani Biancini, Ana Moira Morás, Luiza Steffens Reinhardt, Franciele Faccio Busatto, Nathalia Denise de Moura Sperotto, Jenifer Saffi, Dinara Jaqueline Moura, Roberto Giugliani, Carmen Regla Vargas
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. Once renal complications are major morbidity causes in FD, we investigated the effects of the latest biomarker for FD - globotriaosylsphingosine (lyso-Gb3) in a cultured renal lineage - human embryonic kidney cells (HEK-293 T) - on DNA damage...
June 2017: Nephrology
https://www.readbyqxmd.com/read/28427383/is-ischemia-the-only-factor-predicting-cardiovascular-outcomes-in-all-diabetes-mellitus-patients
#3
REVIEW
Mark W Kennedy, Enrico Fabris, Harry Suryapranata, Elvin Kedhi
Diabetes mellitus (DM) is associated with an excess in cardiovascular morbidity and mortality, and is characterized by increased rates of coronary artery disease. Furthermore, once atherosclerosis is established, this is associated with an increased extent, complexity and a more rapid progression than seen in non-DM patients. Ischemia is the single most important predictor of future hard cardiac events and ischemia correction remains the cornerstone of current revascularization strategies. However recent data suggests that, in DM patients, coronary atherosclerosis despite the absence of ischemia, detected by either invasive or non-invasive methods, may not be associated with the same low risk of future cardiac events as seen in non-DM patients...
April 20, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28420071/pleuropulmonary-involvement-in-patients-with-systemic-lupus-erythematosus-from-a-latin-american-inception-cohort-gladel
#4
M J Haye Salinas, F Caeiro, V Saurit, A Alvarellos, D Wojdyla, H R Scherbarth, A C de O E Silva, J C Tavares Brenol, L T Lavras Costallat, O J Neira, A Iglesias Gamarra, G Vásquez, G A Reyes Llerena, L A Barile-Fabris, L H Silveira, M J Sauza Del Pozo, E M Acevedo Vásquez, J L Alfaro Lozano, M H Esteva Spinetti, G S Alarcón, B A Pons-Estel
Objectives The objectives of this study were to examine the demographic and clinical features associated with the occurrence of pleuropulmonary manifestations, the predictive factors of their occurrence and their impact on mortality in systemic lupus erythematosus (SLE) patients. Materials and methods The association of pleuropulmonary manifestations with demographic and clinical features, the predictive factors of their occurrence and their impact on mortality were examined in GLADEL patients by appropriate univariable and multivariable analyses...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#5
Nadia Ali, Scott Gillespie, Dawn Laney
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. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28409012/enhancing-the-diagnosis-of-fabry-disease-in-cardiology-with-a-targeted-information-a-before-after-control-impact-study
#6
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/28404808/use-of-rs-fmri-in-fabry-disease-do-we-need-it
#7
Antonio Siniscalchi
No abstract text is available yet for this article.
April 12, 2017: Neurology
https://www.readbyqxmd.com/read/28404798/alterations-of-functional-connectivity-of-the-motor-cortex-in-fabry-disease-an-rs-fmri-study
#8
Sirio Cocozza, Antonio Pisani, Gaia Olivo, Francesco Saccà, Lorenzo Ugga, Eleonora Riccio, Silvia Migliaccio, Vincenzo Brescia Morra, Arturo Brunetti, Mario Quarantelli, Enrico Tedeschi
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 ± 12.2 years) were enrolled along with 35 healthy controls (HCs) of comparable age and sex (14 men, mean age 42...
April 12, 2017: Neurology
https://www.readbyqxmd.com/read/28401309/pathomechanisms-of-renal-fabry-disease
#9
Øystein Eikrem, Rannveig Skrunes, Camilla Tøndel, Sabine Leh, Gunnar Houge, Einar Svarstad, Hans-Peter Marti
No abstract text is available yet for this article.
April 12, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28389313/fabry-disease-an-uncommon-cause-of-renal-failure
#10
Persio David López, Laura Andreias, Esteban Astiazarán-Symonds, Jumana Chalabi
No abstract text is available yet for this article.
April 4, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28386689/corpus-callosum-involvement-a-useful-clue-for-differentiating-fabry-disease-from-multiple-sclerosis
#11
Sirio Cocozza, Gaia Olivo, Eleonora Riccio, Camilla Russo, Giuseppe Pontillo, Lorenzo Ugga, Silvia Migliaccio, Dario de Rosa, Sandro Feriozzi, Massimiliano Veroux, Yuri Battaglia, Daniela Concolino, Federico Pieruzzi, Antonino Tuttolomondo, Aurelio Caronia, Cinzia Valeria Russo, Roberta Lanzillo, Vincenzo Brescia Morra, Massimo Imbriaco, Arturo Brunetti, Enrico Tedeschi, Antonio Pisani
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. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms...
April 6, 2017: Neuroradiology
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
#12
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/28382085/identification-of-a-novel-gla-mutation-l206-p-in-a-patient-with-fabry-disease
#13
Ji-Hoon Kim, Gee-Hee Kim, Hoon-Suk Park, Jin-A Choi, Jung-Min Bae, Uiju Cho
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. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39...
March 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28381753/the-coexistence-of-multiple-myeloma-associated-amyloid-light-chain-amyloidosis-and-fabry-disease-in-a-hemodialysis-patient
#14
Kensei Taguchi, Atsuo Moriyama, Goh Kodama, Yosuke Nakayama, Kei Fukami
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. Serum free light-chain and bone marrow analyses detected multiple myeloma (MM). Treatment with bortezomib and dexamethasone significantly improved the patient's symptoms...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28377888/chronic-intestinal-pseudo-obstruction-did-you-search-for-lysosomal-storage-diseases
#15
J Politei, C Durand, A B Schenone, A Torres, J Mukdsi, B L Thurberg
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. In Fabry disease, gastrointestinal symptoms occur in approximately 70% of male patients, but the frequency ranges from 19% to 69% in different series...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28377241/genetic-epidemiological-study-doesn-t-support-gla-ivs4-919g-a-variant-is-a-significant-mutation-in-fabry-disease
#16
Hung-Lun Chiang, Nana Hsiang-Hua Wang, I-Wen Song, Chun-Ping Chang, Ming-Shien Wen, Yin-Hsiu Chien, Wuh-Liang Hwu, Fuu-Jen Tsai, Yuan-Tsong Chen, Jer-Yuarn Wu
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. Minigene constructs were used to study GLA splicing patterns in different cell lines...
March 24, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28371803/parapelvic-cysts-a-distinguishing-feature-of-renal-fabry-disease
#17
Antonio Pisani, Luigi Petruzzelli Annicchiarico, Angela Pellegrino, Dario Bruzzese, Sandro Feriozzi, Massimo Imbriaco, Enrico Tedeschi, Sirio Cocozza, Dario De Rosa, Renzo Mignani, Massimiliano Veroux, Yuri Battaglia, Daniela Concolino, Simona Sestito, Federico Pieruzzi, Leonardo Caroti, Raffaele Manna, Carmela Zizzo, Michele Santangelo, Massimo Sabbatini, Eleonora Riccio
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. Methods.: The present study aimed to: (i) evaluate, by renal ultrasound, the real prevalence of PC and of their determinants in a multicentre, nationwide cohort of FD patients ( n  = 173, Study 1) and (ii) ascertain whether a greater accuracy of PC detection improved their identification, in FD patients from a single centre ( n  = 67, Study 2)...
March 28, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28360401/mutational-analysis-of-the-gla-gene-in-mexican-families-with-fabry-disease
#18
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/28351893/case-study-on-the-pathophysiology-of-fabry-disease-abnormalities-of-cellular-membranes-can-be-reversed-by-substrate-reduction-in-vitro
#19
Graham Brogden, Hadeel Shammas, Katia Maalouf, Samara L Naim, Gabi Wetzel, Mahdi Amiri, Maren von Köckritz-Blickwede, Anibh M Das, Hassan Y Naim
It is still not entirely clear how a-galactosidase (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The current 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 were observed in fibroblasts isolated from a male patient with Fabry disease bearing the mutation N215S. Interestingly, lipid raft analysis revealed that the distribution of cholesterol and flotillin-2 are distinctly altered in the Fabry fibroblasts when compared to that of wild type cells...
March 28, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28340804/preliminary-screening-results-of-fabry-disease-in-kidney-transplantation-patients-a-single-center-study
#20
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
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