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Fabry disease

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https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#1
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#2
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933309/cigarette-smoking-is-associated-with-decreased-bone-gla-protein-bgp-levels-in-hemodialysis-patients
#3
Maria Fusaro, Maurizio Gallieni, Andrea Aghi, Giorgio Iervasi, Maria Antonietta Rizzo, Andrea Stucchi, Marianna Noale, Giovanni Tripepi, Thomas Nickolas, Nicola Veronese, Fabrizio Fabris, Sandro Giannini, Lorenzo Calò, Antonio Piccoli, Maria Cristina Mereu, Laura Cosmai, Alberto Ferraro, Fiorenza Magonara, Michela Spinello, Stefania Sella, Mario Plebani
BACKGROUND: Bone gamma-carboxyglutamic acid (Gla)-protein (BGP or osteocalcin) is a vitamin K-dependent protein involved in the regulation of bone mineralization. Smoking is a risk factor for osteoporosis. METHODS: We carried out a secondary analysis of the vitamin K Italian (VIKI) study to investigate the association between cigarette smoking and BGP levels in patients with end stage renal disease. Data were collected in 370 haemodialysis patients, 37% (136) smokers (or ex-smokers) and 63% (234) non-smokers...
September 19, 2017: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/28918065/the-role-of-epigenetics-in-lysosomal-storage-disorders-uncharted-territory
#4
REVIEW
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood...
August 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28902648/-fabry-disease-an-overlooked-diagnosis-in-adult-cardiac-patients
#5
Meral Kayıkçıoğlu, Evrim Şimşek, Sema Kalkan Uçar, Selen Bayraktaroğlu, Hüseyin Onay, Eser Sözmen, Mahmut Çoker
Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disease. Male patients are more severely affected; however, heterozygous female patients may also be afflicted, though often the symptoms develop later. Cardiac involvement can include left ventricular hypertrophy, conduction abnormalities, arrhythmias, valvular abnormalities, and heart failure...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28892806/a-novel-missense-gla-mutation-p-g35v-detected-in-hemodialysis-screening-leads-to-severe-systemic-manifestations-of-fabry-disease-in-men-and-women
#6
Valeria Soares Pigozzi Veloso, Thiago Lacerda Ataides, Maria Eugênia Fernandes Canziani, Mariana Pigozzi Veloso, Nilzio Antônio da Silva, Daniela Veit Barreto, Edna Regina Silva Pereira, Luiz Antonio Ribeiro de Moura, Fellype Carvalho Barreto
BACKGROUND/AIMS: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. METHODS: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity...
September 12, 2017: Nephron
https://www.readbyqxmd.com/read/28877708/fabry-disease-and-incidence-of-cancer
#7
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients...
September 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28871487/fabry-disease-in-children-a-federal-screening-programme-in-russia
#8
Leyla Seymurovna Namazova-Baranova, Alexander Alexandrovich Baranov, Aleksander Alekseevich Pushkov, Kirill Victorovich Savostyanov
Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2-18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31...
September 4, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28848191/bedside-stereomicroscopy-of-fabry-kidney-biopsies-an-easily-available-method-for-diagnosis-and-assessment-of-sphingolipid-deposits
#9
Einar Svarstad, Sabine Leh, Rannveig Skrunes, Kristin Kampevold Larsen, Øystein Eikrem, Camilla Tøndel
BACKGROUND/AIMS: A previous case report found stereomicroscopic changes typical for Fabry disease in a kidney biopsy. This case series evaluates an expanded diagnostic capacity of the method. METHODS: Bedside stereomicroscopy was performed in a cross-sectional prospective study of 31 consecutive enzyme-treated or treatment-naïve male (n = 14) and female Fabry disease patients. The burden of glomerular storage material was scored semiquantitatively on a visual analog scale (range 0-3) and a blinded comparison was done with a reference histologic method...
August 26, 2017: Nephron
https://www.readbyqxmd.com/read/28847675/a-simple-method-for-quantification-of-plasma-globotriaosylsphingosine-utility-for-fabry-disease
#10
Andrew Talbot, Kathy Nicholls, Janice M Fletcher, Maria Fuller
Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker. Here we developed a simple method to enable quantification of lyso-Gb3 in just 0.01mL of plasma and explored its concentration in a cohort of 73 Australian FD patients, as well as in individuals with other sphingolipidoses...
August 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28844954/optimising-the-clinical-strategy-for-autoimmune-liver-diseases-principles-of-value-based-medicine
#11
Marco Carbone, Laura Cristoferi, Paolo Angelo Cortesi, Matteo Rota, Antonio Ciaccio, Stefano Okolicsanyi, Marta Gemma, Luciana Scalone, Giancarlo Cesana, Luca Fabris, Michele Colledan, Stefano Fagiuoli, Gaetano Ideo, Luca Saverio Belli, Luca Maria Munari, Lorenzo Mantovani, Mario Strazzabosco
BACKGROUND: Autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis represent the three major autoimmune liver diseases (AILDs). Their management is highly specialized, requires a multidisciplinary approach and often relies on expensive, orphan drugs. Unfortunately, their treatment is often unsatisfactory, and the care pathway heterogeneous across different centers. Disease-specific clinical outcome indicators (COIs) able to evaluate the whole cycle of care are needed to assist both clinicians and administrators in improving quality and value of care...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28843599/the-pathophysiology-of-fabry-disease
#12
S Olivera-González, C Josa-Laorden, M A Torralba-Cabeza
Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease.
August 23, 2017: Revista Clínica Española
https://www.readbyqxmd.com/read/28840666/high-yield-process-for-the-production-of-active-human-%C3%AE-galactosidase-a-in-cho-k1-cells-through-lentivirus-transgenesis
#13
María Celeste Rodríguez, Natalia Ceaglio, Sebastián Antuña, María Belén Tardivo, Marina Etcheverrigaray, Claudio Prieto
Fabry disease is an X-linked recessive disorder caused by a deficiency in lysosomal α-Galactosidase A. Currently, two enzyme replacement therapies (ERT) are available. However, access to orphan drugs continues to be limited by their high price. Selection of adequate high-expression systems still constitutes a challenge for alleviating the cost of treatments. Several strategies have been implemented, with varying success, trying to optimize the production process of recombinant human α-Galactosidase A (rhαGAL) in Chinese hamster ovary (CHO-K1) cells...
August 25, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28836688/src-kinase-inhibition-reduces-inflammatory-and-cytoskeletal-changes-in-%C3%AE-f508-human-cholangiocytes-and-improves-cftr-correctors-efficacy
#14
Romina Fiorotto, Mariangela Amenduni, Valeria Mariotti, Luca Fabris, Carlo Spirli, Mario Strazzabosco
CFTR, the channel mutated in cystic fibrosis (CF), is expressed by the biliary epithelium (i.e cholangiocytes) of the liver. Progressive clinical liver disease (CFLD) occurs in about 10% of CF patients and represents the third leading cause of death. Impaired secretion and inflammation contribute to CFLD, however the lack of human-derived experimental models has hampered the understanding of CFLD pathophysiology and the search for a cure. We have investigated the cellular mechanisms altered in human CF cholangiocytes using induced pluripotent stem cells (iPSC) derived from healthy controls and a ΔF508 CFTR patient...
July 24, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28835480/fabry-disease-characterisation-of-the-plasma-proteome-pre-and-post-enzyme-replacement-therapy
#15
Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, Heounjeong Go, Kyung Yong Kim, Jae Yong Jung, Minji Kang, Gu-Hwan Kim, Jae-Min Kim, In-Hee Choi, Jin-Ho Choi, Sung-Chul Jung, Robert J Desnick, Han-Wook Yoo, Beom Hee Lee
BACKGROUND: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology. METHODS: Two-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease RESULTS: After short-term ERT (4-12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly...
August 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28835396/human-dorsal-root-ganglion-in-vivo-morphometry-and-perfusion-in-fabry-painful-neuropathy
#16
Tim Godel, Philipp Bäumer, Mirko Pham, Anja Köhn, Nicole Muschol, Moritz Kronlage, Jennifer Kollmer, Sabine Heiland, Martin Bendszus, Victor-Felix Mautner
OBJECTIVE: To evaluate functional and morphometric magnetic resonance neurography of the dorsal root ganglion and peripheral nerve segments in patients with Fabry painful neuropathy. METHODS: In this prospective study, the lumbosacral dorsal root ganglia and proximal peripheral nerve segments of the lower extremity were examined in 11 male patients with Fabry disease by a standardized 3T magnetic resonance neurography protocol. Volumes of L3 to S2 dorsal root ganglia, perfusion parameters of L5-S1 dorsal root ganglia and the spinal nerve L5, and the cross-sectional area of the proximal sciatic nerve were compared to healthy controls...
August 23, 2017: Neurology
https://www.readbyqxmd.com/read/28821638/fluorescent-probes-for-selective-protein-labeling-in-lysosomes-a-case-of-%C3%AE-galactosidase-a
#17
Cornelius Bohl, Adam Pomorski, Susanne Seemann, Anne-Marie Knospe, Chaonan Zheng, Artur Krężel, Arndt Rolfs, Jan Lukas
Fluorescence-based live-cell imaging (LCI) of lysosomal glycosidases is often hampered by unfavorable pH and redox conditions that reduce fluorescence output. Moreover, most lysosomal glycosidases are low-mass soluble proteins that do not allow for bulky fluorescent protein fusions. We selected α-galactosidase A (GALA) as a model lysosomal glycosidase involved in Anderson-Fabry disease (AFD) for the current LCI approach. Examination of the subcellular localization of AFD-causing mutants can reveal the mechanism underlying cellular trafficking deficits...
August 15, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28813699/t1-and-t2-mapping-in-cardiology-mapping-the-obscure-object-of-desire
#18
Sophie Mavrogeni, Dimitris Apostolou, Panayiotis Argyriou, Stella Velitsista, Lilika Papa, Stelios Efentakis, Evangelos Vernardos, Mikela Kanoupaki, George Kanoupakis, Athanassios Manginas
The increasing use of cardiovascular magnetic resonance (CMR) is based on its capability to perform biventricular function assessment and tissue characterization without radiation and with high reproducibility. The use of late gadolinium enhancement (LGE) gave the potential of non-invasive biopsy for fibrosis quantification. However, LGE is unable to detect diffuse myocardial disease. Native T1 mapping and extracellular volume fraction (ECV) provide knowledge about pathologies affecting both the myocardium and interstitium that is otherwise difficult to identify...
August 17, 2017: Cardiology
https://www.readbyqxmd.com/read/28808181/screening-of-fabry-disease-in-patients-with-end-stage-renal-disease-of-unknown-etiology-the-first-thailand-study
#19
Objoon Trachoo, Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumphol, Norasak Suvachittanont, Suthep Patputthipong, Piyatida Chuengsaman, Arkom Nongnuch
We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity...
October 17, 2016: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28799081/the-psychosocial-impact-of-carrying-a-debated-variant-in-the-gla-gene
#20
Sarah Macklin, Dawn Laney, Emily Lisi, Andrea Atherton, Elizabeth Smith
The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified...
August 10, 2017: Journal of Genetic Counseling
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