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Gauchers

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https://www.readbyqxmd.com/read/29334776/multiple-intracranial-aneurysms-in-a-patient-with-type-i-gaucher-disease-a-case-report-and-literature-review
#1
Matthew R Reynolds, Daniel M Heiferman, Andrew B Boucher, Brian M Howard, Daniel L Barrow, Jacques E Dion
Multiple intracranial aneurysms (IAs) have never been reported in a patient with Gaucher disease (GD). A 69-year-old-female with type I GD presented with a left sixth nerve palsy due to a large posterior inferior cerebellar artery (PICA) aneurysm. Cerebral angiography demonstrated fifteen unruptured IAs (UIAs).
January 15, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29326879/characteristics-of-26-patients-with-type-3-gaucher-disease-a-descriptive-analysis-from-the-gaucher-outcome-survey
#2
Ida Vanessa D Schwartz, Özlem Göker-Alpan, Priya S Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29324951/signs-and-symptoms-in-gaucher-disease-priority-nursing-diagnoses
#3
Márcia Koja Breigeiron, Vitória da Costa Moraes, Janice Carneiro Coelho
OBJECTIVE: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. METHOD: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. RESULTS: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent...
January 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/29317695/alterations-in-the-properties-of-the-cell-membrane-due-to-glycosphingolipid-accumulation-in-a-model-of-gaucher-disease
#4
Gyula Batta, Lilla Soltész, Tamás Kovács, Tamás Bozó, Zoltán Mészár, Miklós Kellermayer, János Szöllősi, Peter Nagy
Gaucher disease is a lysosomal storage disease characterized by the malfunction of glucocerebrosidase resulting in the accumulation of glucosylceramide and other sphingolipids in certain cells. Although the disease symptoms are usually attributed to the storage of undigested substrate in lysosomes, here we show that glycosphingolipids accumulating in the plasma membrane cause profound changes in the properties of the membrane. The fluidity of the sphingolipid-enriched membrane decreased accompanied by the enlargement of raft-like ordered membrane domains...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29310663/%C3%AE-synuclein-accumulation-and-gba-deficiency-due-to-l444p-gba-mutation-contributes-to-mptp-induced-parkinsonism
#5
Seung Pil Yun, Donghoon Kim, Sangjune Kim, SangMin Kim, Senthilkumar S Karuppagounder, Seung-Hwan Kwon, Saebom Lee, Tae-In Kam, Suhyun Lee, Sangwoo Ham, Jae Hong Park, Valina L Dawson, Ted M Dawson, Yunjong Lee, Han Seok Ko
BACKGROUND: Mutations in glucocerebrosidase (GBA) cause Gaucher disease (GD) and increase the risk of developing Parkinson's disease (PD) and Dementia with Lewy Bodies (DLB). Since both genetic and environmental factors contribute to the pathogenesis of sporadic PD, we investigated the susceptibility of nigrostriatal dopamine (DA) neurons in L444P GBA heterozygous knock-in (GBA +/L444P ) mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a selective dopaminergic mitochondrial neurotoxin...
January 8, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29306436/activity-based-probes-for-glycosidases-profiling-and-other-applications
#6
Chi-Lin Kuo, Eline van Meel, Kassiani Kytidou, Wouter Willem Kallemeijn, Martin Witte, Herman Stephen Overkleeft, Marta Elena Artola, Johannes Maria Aerts
Glycosidases mediate the fragmentation of glycoconjugates in the body, including the vital recycling of endogenous molecules. Several inherited diseases in man concern deficiencies in lysosomal glycosidases degrading glycosphingolipids. Prominent is Gaucher disease caused by an impaired lysosomal β-glucosidase (glucocerebrosidase, GBA) and resulting in pathological lysosomal storage of glucosylceramide (glucocerebroside) in tissue macrophages. GBA is a retaining glucosidase with a characteristic glycosyl-enzyme intermediate formed during catalysis...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29306435/fluorescence-quenched-substrates-for-quantitative-live-cell-imaging-of-glucocerebrosidase-activity
#7
Roger A Ashmus, David L Shen, David J Vocadlo
Glucocerebrosidase (GCase) is a lysosomal glycoside hydrolase that cleaves the glycolipid glucosylceramide (GlcCer). Deficiencies of this enzyme lead to accumulation of GlcCer and the development of the lysosomal storage disease known as Gaucher's disease. Recently, loss-of-function mutations in the GBA1 gene that encodes GCase have been linked to Parkinson's disease. Currently pursued therapeutic strategies to increase GCase involve enzyme replacement therapy, chemical chaperone therapy, and GCase activators...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29305416/involvement-of-hepcidin-in-iron-metabolism-dysregulation-in-gaucher-disease
#8
Thibaud Lefebvre, Niloofar Reihani, Raed Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim
Gaucher disease is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow. The resulting lipid-laden macrophages lead to the appearance of Gaucher cells. Anemia associated with an unexplained hyperferritinemia is a frequent finding in Gaucher disease, but whether this pathogenesis is related to an iron metabolism disorder has remained unclear. To investigate this issue, we explored the iron status of a large cohort of 90 type I Gaucher disease patients, including 66 patients treated with enzyme replacement therapy...
January 5, 2018: Haematologica
https://www.readbyqxmd.com/read/29301038/gaucher-disease-ipsc-derived-osteoblasts-have-developmental-and-lysosomal-defects-that-impair-bone-matrix-deposition
#9
Leelamma M Panicker, Manasa P Srikanth, Thiago Castro-Gomes, Diana Miller, Norma W Andrews, Ricardo A Feldman
Gaucher disease (GD) is caused by bi-allelic mutations in GBA1, the gene that encodes acid β-glucocerebrosidase (GCase). Individuals affected by GD have hematologic, visceral and bone abnormalities, and in severe cases there is also neurodegeneration. To shed light on the mechanisms by which mutant GBA1 causes bone disease, we examined the ability of human induced pluripotent stem cells (iPSC) derived from patients with types 1, 2 and 3 GD, to differentiate to osteoblasts and carry out bone deposition. Differentiation of GD iPSC to osteoblasts revealed that these cells had developmental defects and lysosomal abnormalities that interfered with bone matrix deposition...
January 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29296132/proceedings-of-the-canadian-frailty-network-summit-medication-optimization-for-frail-older-canadians-toronto-monday-april-24-2017
#10
John Muscedere, Perry Kim, Peter Aitken, Michael Gaucher, Robin Osborn, Barbara Farrell, Jayna Holroyd-Leduc, Laurie Mallery, Henry Siu, James Downar, Todd C Lee, Emily McDonald, Lisa Burry
Appropriate and optimal use of medication and polypharmacy are especially relevant to the care of older Canadians living with frailty, often impacting their health outcomes and quality of life. A majority (two thirds) of older adults (65 or older) are prescribed five or more drug classes and over one-quarter are prescribed 10 or more drugs. The risk of adverse drug-induced events is even greater for those aged 85 or older where 40% are estimated to take drugs from 10 or more drug classes. The Canadian Frailty Network (CFN), a pan-Canadian non-for-profit organization funded by the Government of Canada through the Networks of Centres of Excellence Program (NCE), is dedicated to improving the care of older Canadian living with frailty and, as part of its mandate, convened a meeting of stakeholders from across Canada to seek their perspectives on appropriate medication prescription...
December 2017: Canadian Geriatrics Journal: CGJ
https://www.readbyqxmd.com/read/29290526/rapid-screening-for-lipid-storage-disorders-using-biochemical-markers-expert-center-data-and-review-of-the-literature
#11
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/29282403/epiretinal-membrane-in-dome-shaped-macula-complicated-with-serous-retinal-detachment-transient-efficacy-of-surgery
#12
Guillaume Soudier, Alain Gaudric, Vincent Gualino, Mathieu Nardin, Claude Speeg-Schatz, David Gaucher
Dome-shaped macula (DSM) is an entity recently described as a convex anterior protrusion of the macular area within a posterior myopic staphyloma. Specific complications were associated with DSM, like serous retinal detachment (SRD). We describe a woman presenting with a decreased vision at 20/50. SD-OCT scans were performed, showing a macular bulge. SRD was present and an epiretinal membrane could also be observed. Fluorescein angiography and indocyanin green angiography did not show any leakage nor choroidal neovascularization...
September 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29276249/response-to-letter-to-the-editor-on-enzyme-replacement-or-substrate-reduction-a-review-of-gaucher-disease-treatment-options
#13
Alison Van Rossum, Megan Holsopple
No abstract text is available yet for this article.
December 2017: Hospital Pharmacy
https://www.readbyqxmd.com/read/29276248/letter-to-the-editor-on-enzyme-replacement-or-substrate-reduction-a-review-of-gaucher-disease-treatment-options
#14
Jennifer Ibrahim, Rebecca Call
No abstract text is available yet for this article.
December 2017: Hospital Pharmacy
https://www.readbyqxmd.com/read/29276038/structural-and-dynamics-comparison-of-thermostability-in-ancient-modern-and-consensus-elongation-factor-tus
#15
C Denise Okafor, Manish C Pathak, Crystal E Fagan, Nicholas C Bauer, Megan F Cole, Eric A Gaucher, Eric A Ortlund
Rationally engineering thermostability in proteins would create enzymes and receptors that function under harsh industrial applications. Several sequence-based approaches can generate thermostable variants of mesophilic proteins. To gain insight into the mechanisms by which proteins become more stable, we use structural and dynamic analyses to compare two popular approaches, ancestral sequence reconstruction (ASR) and the consensus method, used to generate thermostable variants of Elongation Factor Thermo-unstable (EF-Tu)...
December 16, 2017: Structure
https://www.readbyqxmd.com/read/29237663/progressive-myoclonic-epilepsy-and-horizontal-gaze-palsy-a-rare-aetiology
#16
Rajveer Singh, Aditya Choudhary, Amith S Kumar, Manoj Kumar Goyal
Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29211351/application-of-fourier-transform-infrared-spectroscopy-to-biomolecular-profiling-of-cultured-fibroblast-cells-from-gaucher-disease-patients-a-preliminary-investigation
#17
Nasit Igci, Parisa Sharafi, Duygu Ozel Demiralp, Cemil Ozerk Demiralp, Aysel Yuce, Serap Dokmeci Emre
BACKGROUND: Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.2.1.45). Glucocerebrosidase is responsible for the degradation of glucosylceramide into ceramide and glucose. The deficiency of this enzyme results in the accumulation of undegraded glucosylceramide, almost exclusively in macrophages. With Fourier transform infrared (FTIR) spectroscopy, the complete molecular diversity of the samples can be studied comparatively and the amount of the particular materials can be determined...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#18
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29200098/preoperative-factors-influencing-visual-recovery-after-vitrectomy-for-myopic-foveoschisis
#19
Mathieu Lehmann, François Devin, Pierre-Raphael Rothschild, David Gaucher, Bruno Morin, Elise Philippakis, Pascale Massin, Aude Couturier, Ramin Tadayoni
PURPOSE: To determine the preoperative factors influencing visual recovery after vitrectomy for myopic foveoschisis. METHODS: Sixty-six eyes of 65 consecutive patients operated on for myopic foveoschisis were retrospectively included. All eyes underwent a preoperative ocular examination including best-corrected visual acuity (BCVA) and spectral domain optical coherence tomography with central foveal thickness measurement and foveal status classification: simple foveoschisis, foveal detachment, or macular hole...
December 1, 2017: Retina
https://www.readbyqxmd.com/read/29199275/lysosomal-integral-membrane-protein-2-as-a-phospholipid-receptor-revealed-by-biophysical-and-cellular-studies
#20
Karen S Conrad, Ting-Wen Cheng, Daniel Ysselstein, Saskia Heybrock, Lise R Hoth, Boris A Chrunyk, Christopher W Am Ende, Dimitri Krainc, Michael Schwake, Paul Saftig, Shenping Liu, Xiayang Qiu, Michael D Ehlers
Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) contributes to endosomal and lysosomal function. LIMP-2 deficiency is associated with neurological abnormalities and kidney failure and, as an acid glucocerebrosidase receptor, impacts Gaucher and Parkinson's diseases. Here we report a crystal structure of a LIMP-2 luminal domain dimer with bound cholesterol and phosphatidylcholine. Binding of these lipids alters LIMP-2 from functioning as a glucocerebrosidase-binding monomer toward a dimeric state that preferentially binds anionic phosphatidylserine over neutral phosphatidylcholine...
December 4, 2017: Nature Communications
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