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Gaucher disease type 2

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https://www.readbyqxmd.com/read/27922757/hemophagocytic-lymphohistiocytosis-triggered-by-gaucher-disease-in-a-preterm-neonate
#1
Simone Schüller, Andishe Attarbaschi, Angelika Berger, Caroline Hutter, Katrin Klebermass-Schrehof, Manuel Steiner
OBJECTIVE: To present the diagnostic workup in an extremely low birth weight infant patient with signs of both sepsis and hemophagocytosis. PARTICIPANTS: A preterm infant presented with clinical and laboratory signs of early-onset sepsis including hepatosplenomegaly, thrombocytopenia, direct hyperbilirubinemia, and elevated liver enzymes. METHODS: Despite extensive septic workup, no underlying infection was detected. Additional hyperferritinemia and other elevated inflammatory parameters raised the suspicion of a primary or secondary hemophagocytic lymphohistiocytosis (HLH)...
December 6, 2016: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/27905603/pathological-levels-of-glucosylceramide-change-the-biophysical-properties-of-artificial-and-cell-membranes
#2
Ana R P Varela, Ana E Ventura, Ana C Carreira, Aleksander Fedorov, Anthony H Futerman, Manuel Prieto, Liana C Silva
Glucosylceramide (GlcCer) plays an active role in the regulation of various cellular events. Moreover, GlcCer is also a key modulator of membrane biophysical properties, which might be linked to the mechanism of its biological action. In order to understand the biophysical implications of GlcCer on membranes of living cells, we first studied the effect of GlcCer on artificial membranes containing 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC), sphingomyelin (SM) and cholesterol (Chol). Using an array of biophysical methods, we demonstrate that at lower GlcCer/Chol ratios, GlcCer stabilizes SM/Chol-enriched liquid-ordered domains...
December 1, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27866810/histological-characterisation-of-visceral-changes-in-a-patient-with-type-2-gaucher-disease-treated-with-enzyme-replacement-therapy
#3
Yuko Tezuka, Mitsumasa Fukuda, Shohei Watanabe, Takeshi Nakano, Kentaro Okamoto, Kazuyo Kuzume, Yoshiaki Yano, Mariko Eguchi, Minenori Ishimae, Eiichi Ishii, Tatsuhiko Miyazaki
Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27865684/clinical-and-molecular-characteristics-of-patients-with-gaucher-disease-in-southern-china
#4
Yuyu Feng, Yonglan Huang, Chengfang Tang, Hao Hu, Xiaoyuan Zhao, Huiying Sheng, Wen Zhang, Minyi Tan, Ting Xie, Jipeng Zheng, Zongcai Liu, Xueying Su, Yongxian Shao, Xiuzhen Li, Jing Cheng, Xiaojian Mao, Li Liu
Gaucher disease (GD) is a common lysosomal storage disorder caused by the deficiency of acid β-glucosidase, due to mutations in the GBA gene. To explore the clinical and molecular characteristics of GD patients from Southern China, GBA gene was analyzed by nest PCR and direct Sanger-sequencing. Novel missense mutations were transiently transfected in COS-7 cells by plasmid system for functional verification. Among the 22 GD patients, 19 patients were classified as type 1 and three as type 2. Over 60% of the type 1 patient had onset before 2years old and about 42% of them died before 3years old...
November 3, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27859541/ambroxol-effects-in-glucocerebrosidase-and-%C3%AE-synuclein-transgenic-mice
#5
Anna Migdalska-Richards, Liam Daly, Erwan Bezard, Anthony H V Schapira
OBJECTIVE: Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase. Both homozygous and heterozygous glucocerebrosidase 1 mutations confer an increased risk for developing Parkinson disease. Current estimates indicate that 10 to 25% of Parkinson patients carry glucocerebrosidase 1 mutations. Ambroxol is a small molecule chaperone that has been shown to increase glucocerebrosidase activity in vitro. This study investigated the effect of ambroxol treatment on glucocerebrosidase activity and on α-synuclein and phosphorylated α-synuclein protein levels in mice...
November 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27836528/aberrant-bone-marrow-vascularization-patterns-in-untreated-patients-with-gaucher-disease-type-1
#6
Monika Klimkowska, Maciej Machaczka, Jan Palmblad
Bone marrow (BM) in subjects with Gaucher disease (GD) displays accumulation of Gaucher cells (GC), i.e. glucocerebroside-laden macrophages. Following the assumption that macrophage proliferation and perturbation in GD modulates local inflammation-associated phenomena including angiogenesis, BM biopsies from 11 untreated GD patients and 36 controls were investigated for morphology and angiogenesis-associated features. These included microvascular density, (MVD), vessel structure and pericyte coverage, expression of VEGF-A and angiopoietins (ANGPT1 and 2)...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27816428/ferritinemia-and-serum-inflammatory-cytokines-in-swedish-adults-with-gaucher-disease-type-1
#7
Fryderyk Lorenz, Ewa Pawłowicz, Monika Klimkowska, Soheir Beshara, Agnes Bulanda Brustad, Aleksander B Skotnicki, Anders Wahlin, Maciej Machaczka
BACKGROUND: The storage of glucosylceramide in macrophages produces an inflammatory response in Gaucher disease type 1 (GD1) resulting in iron metabolism dysregulation and cytokine release. PATIENTS AND METHODS: The study included 16 adults with GD1 aged 20-86years. All but one patient carried at least one allele with the c.1226A>G (N370S) mutation in the GBA1 gene. Ferritinemia, iron metabolism profiles including hepcidin, and inflammatory cytokine concentrations were assessed in GD1 patients in Sweden...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27816427/causes-of-death-in-184-patients-with-type-1-gaucher-disease-from-the-united-states-who-were-never-treated-with-enzyme-replacement-therapy
#8
Neal J Weinreb, Deborah S Barbouth, Robert E Lee
Treatment for type 1 Gaucher disease (GD1) decreases morbidity from hematological cytopenias, hepatosplenomegaly and bone complications. Consequently, untreated symptomatic patients for study of late outcomes are hard to find. We identified 184 untreated GD1 patients (67.4% Ashkenazi; splenectomy 51.1%) who died between 1950 and 2010. Here, we report confirmed causes of death for these patients compared with the overall US population. Median age of death 66years (2-97years); causes of death (COD) with a high proportional mortality rate (PMR) included malignancies (PMR 1...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27734818/-late-diagnosis-of-gaucher-s-disease-care-reports
#9
Monika Dyczko, Anna Grzywa-Celińska, Wojciech Barud, Rafał Celiński, Wojciech Dworzański, Katarzyna Szmygin-Milanowska, Jerzy Mosiewicz
: Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms. AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease...
July 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27717005/specifically-neuropathic-gaucher-s-mutations-accelerate-cognitive-decline-in-parkinson-s
#10
Ganqiang Liu, Brendon Boot, Joseph J Locascio, Iris E Jansen, Sophie Winder-Rhodes, Shirley Eberly, Alexis Elbaz, Alexis Brice, Bernard Ravina, Jacobus J van Hilten, Florence Cormier-Dequaire, Jean-Christophe Corvol, Roger A Barker, Peter Heutink, Johan Marinus, Caroline H Williams-Gray, Clemens R Scherzer
OBJECTIVE: We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates. METHODS: A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median, 4.1) from seven cohorts were analyzed. Differential effects of four types of genetic variation in GBA on longitudinal cognitive decline were evaluated using mixed random and fixed effects and Cox proportional hazards models...
November 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27648471/gba-p-t369m-substitution-in-parkinson-disease-polymorphism-or-association-a-meta-analysis
#11
Victoria Mallett, Jay P Ross, Roy N Alcalay, Amirthagowri Ambalavanan, Ellen Sidransky, Patrick A Dion, Guy A Rouleau, Ziv Gan-Or
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27574779/evaluation-of-bone-mineral-density-in-patients-with-type-1-gaucher-disease-in-argentina
#12
M S Larroudé, G Aguilar, I Rossi, G Drelichman, N Fernandez Escobar, N Basack, M Slago, A Schenone, A Fynn, M F Cuello, R Fernandez, A Ruiz, P Reichel, N Guelbert, H Robledo, N Watman, M Bolesina, G Elena, S E Veber, G Pujal, G Galvan, J J Chain, A Arizo, J Bietti, M Aznar, M Dragosky, M Marquez, L Feldman, K Muller, S Zirone, G Buchovsky, V Lanza, I Fernandez, R Jaureguiberry, M A Barbieri, A Maro, G Zarate, G Fernandez, M Rapetti, A Degano, G Kantor, A Albina, M Alvarez Bollea, H Arrocena, V Bacciedoni, F Del Rio
The purpose of this study was to evaluate the frequency of osteoporosis (OP) in patients with Gaucher disease (GD) in Argentina. GD patients from 28 centers were consecutively included from April 2012 to 2014. Bone mineral density (BMD) was determined by dual X-ray absorptiometry in the lumbar spine and the femoral neck or the total proximal femur for patients ≥20 yr of age, and by whole-body scan in the lumbar spine in patients <20 yr of age. In children, mineral density was calculated using the chronological age and Z height...
August 26, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27559188/enzyme-replacement-or-substrate-reduction-a-review-of-gaucher-disease-treatment-options
#13
Alison Van Rossum, Megan Holsopple
BACKGROUND: Gaucher disease is a rare lysosomal storage disease resulting from a deficiency or reduced activity in the acid β-glucocosidase enzyme. Only 1 treatment option was available for 15 years, but several new treatment options have come to market since 2003. OBJECTIVE: The article will detail the pathophysiology and review current therapies in the literature for all 3 major clinical types of Gaucher disease, with a focus on considerations for selecting therapy in type 1 disease...
July 2016: Hospital Pharmacy
https://www.readbyqxmd.com/read/27451386/ca-2-signalling-in-human-proximal-tubular-epithelial-cells-deficient-for-cystinosin
#14
Ekaterina A Ivanova, Mohamed A Elmonem, Inge Bongaerts, Tomas Luyten, Ludwig Missiaen, Lambertus P van den Heuvel, Elena N Levtchenko, Geert Bultynck
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder caused by loss-of-function mutations in the CTNS gene coding for the lysosomal cystine transporter, cystinosin. Recent studies have demonstrated that, apart from cystine accumulation in the lysosomes, cystinosin-deficient cells, especially renal proximal tubular epithelial cells are characterized by abnormal vesicle trafficking and endocytosis, possible lysosomal dysfunction and perturbed intracellular signalling cascades. It is therefore possible that Ca(2+) signalling is disturbed in cystinosis, as it has been demonstrated for other disorders associated with lysosomal dysfunction, such as Gaucher, Niemann-Pick type C and Alzheimer's diseases...
October 2016: Cell Calcium
https://www.readbyqxmd.com/read/27449603/new-directions-in-gaucher-disease
#15
Mia Horowitz, Deborah Elstein, Ari Zimran, Ozlem Goker-Alpan
In Gaucher disease (GD), mutant lysosomal acid β-glucocerebrosidase fails to properly hydrolyze its substrate, glucosylceramide, which accumulates in the lysosomes. Due to its phenotypic heterogeneity, GD has been classified into type 1, non-neuronopathic, and types 2 and 3, the neuronopathic forms, based on the primary involvement of the central nervous system. Neuroinflammation and necroptotic death may appear in the neuronopathic forms of GD, whereas type 1 GD patients may develop Parkinson disease (PD), a prototype of protein misfolding disorders of the nervous system...
November 2016: Human Mutation
https://www.readbyqxmd.com/read/27441734/glucosylsphingosine-is-a-key-biomarker-of-gaucher-disease
#16
Vagishwari Murugesan, Wei-Lien Chuang, Jun Liu, Andrew Lischuk, Katherine Kacena, Haiqun Lin, Gregory M Pastores, Ruhua Yang, Joan Keutzer, Kate Zhang, Pramod K Mistry
Gaucher disease (GD) leads to accumulation of glucosylceramide (GL1) and its deacylated lysolipid, glucosylsphingosine (lyso-GL1) which is implicated in mediating immune dysregulation and skeletal disease. The aim of our study was to assess plasma Lyso-GL1 as a biomarker of GD and its response to therapy. Plasma lyso-GL1 in 169 patients with GD type 1 (GD1) was measured by LC-MS/MS. Significant predictors of were assessed by Pearson's correlation coefficient, Wilcoxon Mann Whitney test and multiple linear regression...
July 21, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27420181/skeletal-involvement-in-gaucher-disease-an-observational-multicenter-study-of-prognostic-factors-in-the-argentine-gaucher-disease-patients
#17
Guillermo Drelichman, Nicolás Fernández Escobar, Nora Basack, Luis Aversa, María Silvia Larroude, Gabriela Aguilar, Marina Szlago, Andrea Schenone, Alcyra Fynn, María Fernanda Cuello, Marcela Aznar, Ramiro Fernández, Alba Ruiz, Paola Reichel, Norberto Guelbert, Hugo Robledo, Nora Watman, Moira Bolesina, Graciela Elena, S Ernesto Veber, Graciela Pujal, Graciela Galván, Juan José Chain, Adriana Arizo, Julieta Bietti, Daniel Bar, Marta Dragosky, Marisa Marquez, Leonardo Feldman, Katja Muller, Sandra Zirone, Greogorio Buchovsky, Victoria Lanza, Alba Sanabria, Ignacio Fernández, Rossana Jaureguiberry, Marcelo Contte, Angie Barbieri María, Alejandra Maro, Graciela Zárate, Gabriel Fernández, María Cristina Rapetti, Hugo Donato, Adriana Degano, Gustavo Kantor, Roberto Albina, María Á Lvarez Bollea, María Brun, Viviana Bacciedoni, Francis Del Río, Bárbara Soberón, Nazario Boido, Maya Schweri, Sandra Borchichi, Victoria Welsh, Marcela Corrales, Alejandra Cedola, Analía Carvani, Blanca Diez, Lucía Richard, Ccecilia Baduel, Gabriela Nuñez, Rubén Colimodio, Lucía Barazzutti, Hugo Medici, Susana Meschengieser, Germán Damiani, María Nucifora, Beatriz Girardi, Sergio Gómez, Maura Papucci, David Verón, Luis Quiroga, Gustavo Carro, Patricia De Ambrosio, José Ferro, Marcelo Pujol, Cristina Cabral Castella, Liliana Franco, Gisela Nisnovich, María Veloso, Isabel Pacheco, Mario Savarino, Andrés Marino, José Luis Saavedra
Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0...
October 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27413154/a-new-glucocerebrosidase-chaperone-reduces-%C3%AE-synuclein-and-glycolipid-levels-in-ipsc-derived-dopaminergic-neurons-from-patients-with-gaucher-disease-and-parkinsonism
#18
Elma Aflaki, Daniel K Borger, Nima Moaven, Barbara K Stubblefield, Steven A Rogers, Samarjit Patnaik, Frank J Schoenen, Wendy Westbroek, Wei Zheng, Patricia Sullivan, Hideji Fujiwara, Rohini Sidhu, Zayd M Khaliq, Grisel J Lopez, David S Goldstein, Daniel S Ory, Juan Marugan, Ellen Sidransky
UNLABELLED: Among the known genetic risk factors for Parkinson disease, mutations in GBA1, the gene responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic link has directed attention to the role of the lysosome in the pathogenesis of parkinsonism. To study how glucocerebrosidase impacts parkinsonism and to evaluate new therapeutics, we generated induced human pluripotent stem cells from four patients with Type 1 (non-neuronopathic) Gaucher disease, two with and two without parkinsonism, and one patient with Type 2 (acute neuronopathic) Gaucher disease, and differentiated them into macrophages and dopaminergic neurons...
July 13, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27353988/spectrum-of-inherited-metabolic-disorders-in-pakistani-children-presenting-at-a-tertiary-care-centre
#19
Huma Arshad Cheema, Hassan Suleman Malik, Arit Parkash, Zafar Fayyaz
OBJECTIVE: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. METHODOLOGY: All children aged < 14 years with high suspicion of a metabolic disorder were inducted...
June 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27344356/prodromal-clinical-markers-of-parkinson-disease-in-gaucher-disease-individuals
#20
Emilia M Gatto, Jose Luis Etcheverry, Ana Sanguinetti, Martin Cesarini, Nicolas Fernandez Escobar, Guillermo Drelichman
Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we analyzed the occurrence of prodromal markers of PD in an Argentinean cohort with type 1 GD. After signed informed consent, we evaluated 26 patients with type 1 GD under enzymatic replacement therapy from a cohort of the Hospital Ricardo Gutierrez GD Study Group in Buenos Aires City, Argentina...
2016: European Neurology
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