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Gauchers disease

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https://www.readbyqxmd.com/read/29471591/improvement-of-life-quality-measured-by-lansky-score-after-enzymatic-replacement-therapy-in-children-with-gaucher-disease-type-1
#1
Magdalena Cerón-Rodríguez, Edgar Barajas-Colón, Lyuva Ramírez-Devars, Claudia Gutiérrez-Camacho, Juan L Salgado-Loza
BACKGROUND: Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. METHODS: Five children with diagnosis of GD1 received imiglucerase 60 mg/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6 months after beginning ERT for 30 months...
January 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#2
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29423829/hepatocellular-carcinoma-in-gaucher-disease-an-international-case-series
#3
Martine Regenboog, Laura van Dussen, Joanne Verheij, Neal J Weinreb, David Santosa, Stephan Vom Dahl, Dieter Häussinger, Meike N Müller, Ali Canbay, Miriam Rigoldi, Alberto Piperno, Tama Dinur, Ari Zimran, Pramod K Mistry, Karima Yousfi Salah, Nadia Belmatoug, David J Kuter, Carla E M Hollak
Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver is one of the major storage sites involved in GD pathogenesis, and is also affected by liver-specific complications. In this case series, we describe 16 GD type 1 (GD1) patients from eight different referral centers around the world who developed hepatocellular carcinoma (HCC). Potential factors contributing to the increased HCC risk in GD patients are studied...
February 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29418074/relationship-between-glucocerebrosidase-activity-and-clinical-response-to-enzyme-replacement-therapy-in-patients-with-gaucher-disease-type-i
#4
Elena Gras-Colomer, María-Amparo Martínez-Gómez, Mónica Climente-Martí, Miguel Fernandez-Zarzoso, Mercedes Almela-Tejedo, Vicente Giner-Galvañ, Jose-Antonio Marcos-Rodríguez, Alicia Rodríguez-Fernández, Miguel-Ángel Torralba-Cabeza, Matilde Merino-Sanjuan
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualisation, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients with Gaucher disease type I (GD1) to ERT. The study included patients diagnosed with GD1, who were being treated with ERT, and healthy individuals. Markers based on glucocerebrosidase activity measurement in patients' leukocytes were studied: enzyme activity at 15 min...
February 8, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29400127/glucocerebrosidase-and-parkinson-disease-molecular-clinical-and-therapeutic-implications
#5
Roberta Balestrino, Anthony H V Schapira
Parkinson disease (PD) is a complex neurodegenerative disease characterised by multiple motor and non-motor symptoms. In the last 20 years, more than 20 genes have been identified as causes of parkinsonism. Following the observation of higher risk of PD in patients affected by Gaucher disease, a lysosomal disorder caused by mutations in the glucocerebrosidase (GBA) gene, it was discovered that mutations in this gene constitute the single largest risk factor for development of idiopathic PD. Patients with PD and GBA mutations are clinically indistinguishable from patients with idiopathic PD, although some characteristics emerge depending on the specific mutation, such as slightly earlier onset...
February 1, 2018: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
https://www.readbyqxmd.com/read/29396296/chitinase-3-like-protein-1-a-progranulin-downstream-molecule-and-potential-biomarker-for-gaucher-disease
#6
Jinlong Jian, Yuehong Chen, Rossella Liberti, Wenyu Fu, Wenhuo Hu, Rachel Saunders-Pullman, Gregory M Pastores, Ying Chen, Ying Sun, Gregory A Grabowski, Chuan-Ju Liu
We recently reported that progranulin (PGRN) is a novel regulator of glucocerebrosidase and its deficiency associates with Gaucher Diseases (GD) (Jian et al., 2016a; Jian et al., 2018). To isolate the relevant downstream molecules, we performed a whole genome microarray and mass spectrometry analysis, which led to the isolation of Chitinase-3-like-1 (CHI3L1) as one of the up-regulated genes in PGRN null mice. Elevated levels of CHI3L1 were confirmed by immunoblotting and immunohistochemistry. In contrast, treatment with recombinant Pcgin, a derivative of PGRN, as well as imigluerase, significantly reduced the expressions of CHI3L1 in both PGRN null GD model and the fibroblasts from GD patients...
January 30, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29386979/a-comparison-of-ultrasonography-computerised-tomography-and-conventional-mri-findings-for-splenic-nodules-associated-with-type-1-gaucher-s-disease-with-diffusion-weighted-mri-findings
#7
Eda Albayrak, Fitnet Sonmezgoz, Zafer Ozmen, Fatma Aktas, Aysegul Altunkas
A 26-year-old female patient with Type 1 Gaucher's disease (GD) was admitted to our clinic with complaints of stomachache and signs of anemia. The patient underwent ultrasonography (US), computerised tomography (CT), and magnetic resonance imaging (MRI) scan. Imaging studies revealed massive hepatosplenomegaly, choledocolithiasis, and six nodules in the spleen with a mean size of 14 mm. The nodules appeared hyperechoic, hypoechoic, and of mixed echogenicity on the US and hypodense on the CT. While the nodules were observed to be iso-hypointense in T1-weighted (T1WI) images, they appeared to be hyperintense in the T2-weighted (T2WI) images...
October 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/29378790/features-of-gba-associated-parkinson-s-disease-at-presentation-in-the-uk-tracking-parkinson-s-study
#8
Naveed Malek, Rimona S Weil, Catherine Bresner, Michael A Lawton, Katherine A Grosset, Manuela Tan, Nin Bajaj, Roger A Barker, David J Burn, Thomas Foltynie, John Hardy, Nicholas W Wood, Yoav Ben-Shlomo, Nigel W Williams, Donald G Grosset, Huw R Morris
OBJECTIVES: To examine the influence of the glucocerebrosidase (GBA) mutation carrier state on age at onset of Parkinson's disease (PD), the motor phenotype and cognitive function at baseline assessment in a large cohort of UK patients. We also analysed the prevalence of mood and behavioural problems that may confound the assessment of cognitive function. METHODS: We prospectively recruited patients with PD in the Tracking Parkinson's study. We fully sequenced the GBA gene in all recently diagnosed patients (≤3...
January 29, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29373994/combined-miglustat-and-enzyme-replacement-therapy-in-two-patients-with-type-1-gaucher-disease-two-case-reports
#9
Dominick Amato, Mary Anne Patterson
BACKGROUND: Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study and several case reports have described combination therapy over short time periods. CASE PRESENTATION: We report two female Gaucher disease type 1 patients of mainly Anglo-Saxon descent, where combined enzyme replacement therapy and miglustat substrate reduction therapy were administered to overcome refractory clinical symptoms...
January 27, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29369793/alpha-galactosidase-a-activity-in-parkinson-s-disease
#10
R N Alcalay, P Wolf, O A Levy, U J Kang, C Waters, S Fahn, B Ford, S H Kuo, N Vanegas, H Shah, C Liong, S Narayan, M W Pauciulo, W C Nichols, Z Gan-Or, G A Rouleau, W K Chung, P Oliva, J Keutzer, K Marder, X K Zhang
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University...
January 21, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29361370/correlating-liver-stiffness-with-disease-severity-scoring-system-ds3-values-in-gaucher-disease-type-1-gd1-patients
#11
Suraj D Serai, Anjani P Naidu, T Andrew Burrow, Carlos E Prada, Stavra Xanthakos, Alexander J Towbin
Gaucher disease (GD) is an autosomal-recessive lysosomal storage disease caused by a deficiency of the enzyme, glucocerebrocidase, resulting in accumulation of lipid-laden storage cells in multiple organs such as bone marrow, liver, spleen, and lungs. Type 1 Gaucher disease is the most common form of this condition in which the brain and spinal cord (the central nervous system) are not affected. The Gaucher disease severity scoring system (GD-DS3) is typically used to assess disease severity accounting for skeletal, hematologic, and visceral disease...
January 5, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29358012/once-versus-twice-daily-dosing-of-eliglustat-in-adults-with-gaucher-disease-type-1-the-phase-3-randomized-double-blind-edge-trial
#12
Joel Charrow, Cristina Fraga, Xuefan Gu, Hiroyuki Ida, Nicola Longo, Elena Lukina, Alexandre Nonino, Sebastiaan J M Gaemers, Marie-Helene Jouvin, Jing Li, Yaoshi Wu, Yong Xue, M Judith Peterschmitt
Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) with compatible CYP2D6-metabolizer phenotypes (>90% of patients). The randomized, double-blind EDGE trial (NCT01074944, Sanofi Genzyme) evaluated once-daily eliglustat dosing compared with the approved twice-daily regimen at the same total daily dose in adults with GD1. Subjects received twice-daily dosing during a 6- to 18-month lead-in period. Only subjects who attained prespecified treatment goals for hemoglobin, platelet count, spleen and liver volumes, and bone symptoms during the lead-in period were randomized to once- or twice-daily dosing...
January 4, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29354164/actual-reason-for-bone-fractures-in-the-case-of-a-patient-followed-up-with-the-osteogenesis-imperfecta-gaucher-s-disease
#13
Ufuk Demirci, Ahmet Çizmecioglu, Ismet Aydogdu
Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29334776/multiple-intracranial-aneurysms-in-a-patient-with-type-i-gaucher-disease-a-case-report-and-literature-review
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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