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Gaucher disease

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https://www.readbyqxmd.com/read/28103924/combination-therapy-in-a-patient-with-chronic-neuronopathic-gaucher-disease-a-case-report
#1
Ferdinando Ceravolo, Michele Grisolia, Simona Sestito, Francesca Falvo, Maria Teresa Moricca, Daniela Concolino
BACKGROUND: The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase. Enzyme replacement therapy has been shown to improve hematological and bone manifestations associated with Gaucher disease, but, as with most proteins, recombinant enzymes cannot cross the blood-brain barrier, which prevents effects on neurological manifestations...
January 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28098793/osteocyte-alterations-induce-osteoclastogenesis-in-an-in-vitro-model-of-gaucher-disease
#2
Constanza Bondar, Maximiliano Ormazabal, Andrea Crivaro, Malena Ferreyra-Compagnucci, María Victoria Delpino, Paula Adriana Rozenfeld, Juan Marcos Mucci
Gaucher disease (GD) is caused by mutations in the glucosylceramidase β (GBA 1) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the lysosomes of cells, mainly in the monocyte/macrophage lineage. Its mildest form is Type I GD, characterized by non-neuronopathic involvement. Bone compromise is the most disabling aspect of the Gaucher disease. However, the pathophysiological aspects of skeletal alterations are not yet fully understood...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#3
T Squillaro, I Antonucci, N Alessio, A Esposito, M Cipollaro, Mab Melone, G Peluso, L Stuppia, U Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD) and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28095017/spectrum-of-xanthogranulomatous-processes-in-the-abdomen-and-pelvis-a-pictorial-review-of-infectious-inflammatory-and-proliferative-responses
#4
Kelsey S Bourm, Christine O Menias, Kamran Ali, Kinan Alhalabi, Khaled M Elsayes
OBJECTIVE: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. XG infectious processes are mainly seen in cholecystitis and pyelonephritis, but several other organs can also be involved. Histiocytic processes can be divided into Langerhans and non-Langerhans cell histiocytosis...
January 17, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28089753/simultaneous-quantitation-of-sphingoid-bases-by-uplc-esi-ms-ms-with-identical-13-c-encoded-internal-standards
#5
M Mirzaian, P Wisse, M J Ferraz, A R A Marques, P Gaspar, S V Oussoren, K Kytidou, J D C Codée, G van der Marel, H S Overkleeft, J M Aerts
Free sphingoid bases (lysosphingolipids) of primary storage sphingolipids are increased in tissues and plasma of several sphingolipidoses. As shown earlier by us, sphingoid bases can be accurately quantified using UPLC-ESI-MS/MS, particularly in combination with identical (13)C-encoded internal standards. The feasibility of simultaneous quantitation of sphingoid bases in plasma specimens spiked with a mixture of such standards is here described. The sensitivity and linearity of detection is excellent for all examined sphingoid bases (sphingosine, sphinganine, hexosyl-sphingosine (glucosylsphingosine), hexosyl2-sphingosine (lactosylsphingosine), hexosyl3-sphingosine (globotriaosylsphingosine), phosphorylcholine-sphingosine) in the relevant concentration range and the measurements show very acceptable intra- and inter-assay variation (<10% average)...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28088251/lucerastat-an-iminosugar-with-potential-as-substrate-reduction-therapy-for-glycolipid-storage-disorders-safety-tolerability-and-pharmacokinetics-in-healthy-subjects
#6
N Guérard, O Morand, J Dingemanse
BACKGROUND: Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease and Fabry disease. The safety, tolerability, and pharmacokinetics of oral lucerastat were evaluated in two separate randomized, double-blind, placebo-controlled, single- and multiple-ascending dose studies (SAD and MAD, respectively) in healthy male subjects. METHODS: In the SAD study, 31 subjects received placebo or a single oral dose of 100, 300, 500, or 1000 mg lucerastat...
January 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28063644/are-transient-and-shear-wave-elastography-useful-tools-in-gaucher-disease
#7
Muriel Webb, Ari Zimran, Tama Dinur, Oren Shibolet, Stella Levit, David M Steinberg, Ophira Salomon
Up to now, there are no reliable biochemical markers or imaging that could reveal early tissue damage in Gaucher disease. Therefore, we addressed whether elastography technique can serve as a tool for evaluating patients with Gaucher disease. The study included 42 patients with Gaucher disease type I and 33 patients with liver cirrhosis as well as 22 healthy volunteers. Ultrasound and Doppler examination was performed on each participant prior to apply transient and 2D shear wave elastography. In Gaucher disease the median stiffness of the spleen as assessed by transient elastography (TE) and shear wave elastography (SWE) was 35KPa and 22KPa respectively in contrast to the median stiffness of healthy controls (16...
December 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28060125/massive-mesenteric-lymphadenopathy-causing-protein-losing-enteropathy-in-gaucher-disease
#8
Ewan A Simpson, Matthew R F Jaring, Savvas Andronikou
Protein-losing enteropathy due to massive mesenteric lymphadenopathy is a rare complication of Gaucher disease which is generally refractory to treatment with enzyme replacement and substrate reduction therapies. It is postulated that lymph nodes may act as a "sanctuary site" into which these treatments cannot penetrate. We present the case of a male child with Gaucher disease who developed massive mesenteric lymph nodes despite otherwise successful treatment with enzyme replacement therapy, and subsequently developed protein-losing enteropathy...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28052128/gba2-mutations-cause-a-marinesco-sj%C3%A3-gren-like-syndrome-genetic-and-biochemical-studies
#9
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
BACKGROUND: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation. METHODS AND RESULTS: Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c...
2017: PloS One
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#10
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
December 6, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28034821/prevalence-of-autoantibodies-in-the-course-of-gaucher-disease-type-1-a-multicenter-study-comparing-gaucher-disease-patients-to-healthy-subjects
#11
Christine Serratrice, Nesma Bensalah, Guillaume Penaranda, Nathalie Bardin, Nadia Belmatoug, Agathe Masseau, Christian Rose, Olivier Lidove, Fabrice Camou, François Maillot, Vanessa Leguy, Nadine Magy-Bertrand, Isabelle Marie, Patrick Cherin, Monia Bengherbia, Sebastian Carballo, José Boucraut, Jacques Serratrice, Marc Berger, Denis Verrot
OBJECTIVES: Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned. Primary Endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence...
December 26, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28029576/could-enzyme-replacement-therapy-promote-immune-tolerance-in-gaucher-disease-type-1
#12
Marina Cadena Matta, Filippo Vairo, Leuridan Cavalcante Torres, Ida Schwartz
Among the lysosomal storage disorders, Gaucher disease (GD) features some of the most striking alterations in the immune system, including increased levels of cytokines and chemokines. Although studies have demonstrated the efficacy of enzyme replacement therapy (ERT) for GD, the ideal dosage remains controversial. In this study, we report differences in levels of cytokines (IL-6, TNF-a, and IFN-y) and chemokines (IL-8, IP-10, and MCP-1) in patients with GD type 1 treated with different ERT dosages and treatment durations...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28029334/patient-reported-outcomes-in-rare-lysosomal-storage-diseases-key-informant-interviews-and-a-systematic-review-protocol
#13
Patricia A Miller, Sohail M Mulla, Thomasin Adams-Webber, Yasmin Sivji, Gordon H Guyatt, Bradley C Johnston
OBJECTIVES: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II)...
December 28, 2016: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/28024892/classifying-the-additional-morbidities-of-gaucher-disease
#14
Mirjam Langeveld, Deborah Elstein, Jeff Szer, Carla E M Hollak, Ari Zimran
No abstract text is available yet for this article.
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28012701/assessment-of-the-liver-and-spleen-in-children-with-gaucher-s-disease-type-i-with-diffusion-weighted-mr-imaging
#15
Ahmed Abdel Khalek Abdel Razek, Ahmed Abdalla, Tarik Barakat, Heba El-Taher, Khadiga Ali
PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher's disease type I with diffusion-weighted MR imaging and to correlate hepatic and splenic ADC with parameters of disease severity. SUBJECTS AND METHODS: Prospective study was conducted upon 25 children (11 treated and 14 untreated) with Gaucher's disease and 12 age and sex matched control children. They underwent diffusion-weighted MR imaging of abdomen. Hepatic and splenic ADC and volume were calculated...
December 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28011901/efferocytosis-is-impaired-in-gaucher-macrophages
#16
Elma Aflaki, Daniel K Borger, Richard J Grey, Martha Kirby, Stacie Anderson, Grisel Lopez, Ellen Sidransky
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes. Studies of macrophages from patients with type 1 Gaucher disease with genotypes N370S/N370S, N370S/L444P or N370S/c.84dupG revealed that Gaucher macrophages have impaired efferocytosis resulting from reduced levels of p67phox and Rab7. The decreased Rab7 expression leads to impaired fusion of phagosomes with lysosomes...
December 23, 2016: Haematologica
https://www.readbyqxmd.com/read/28007442/analysis-of-sheep-%C3%AE-synuclein-provides-a-molecular-strategy-for-the-reduction-of-fibrillation
#17
Lungisa Bickle, John J Hopwood, Litsa Karageorgos
Parkinson's disease (PD) presents with neuropathological inclusions called Lewy bodies, which are primarily composed of fibrillar α-synuclein. Recently, we characterized sheep with Gaucher disease and since GBA1 mutations represent the highest genetic risk factor for PD, we have investigated α-synuclein fibrillation in the sheep. Here we demonstrate that differences in six amino acid residues between sheep and human α-synuclein significantly alter in vitro fibril formation. Circular dichroism of recombinant human and sheep α-synuclein show that both proteins adopt the same secondary structure...
December 19, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28003644/norrbottnian-clinical-variant-of-gaucher-disease-in-southern-italy
#18
Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio, Daniela Concolino
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical histories characterized by the early onset of significant hepatosplenomegaly, often requiring splenectomy at an early age...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/28003098/validating-glycoprotein-non-metastatic-melanoma-b-gpnmb-osteoactivin-a-new-biomarker-of-gaucher-disease
#19
Vagishwari Murugesan, Jun Liu, Ruhua Yang, Haiquin Lin, Andrew Lischuk, Gregory Pastores, Xiaokui Zhang, Wei-Lien Chuang, Pramod K Mistry
In the spleens of Gaucher disease mice and patients, there is a striking elevation of expression of glycoprotein non-Metastatic Melanoma B (gpNMB). We conducted a study in a large cohort of patients with Gaucher disease to assess the utility of serum levels of soluble fragment of gpNMB as a biomarker of disease activity. There was >15-fold elevation of gpNMB in sera of untreated patients with Gaucher disease. gpNMB levels correlated with overall disease severity as well as the severity of individual organ compartments: liver, spleen, bone and hematological disease...
December 13, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27993825/invasive-group-g-streptococcal-infection-in-a-paediatric-patient
#20
Sejal Makvana Bhavsar, Gail F Shust
We present a paediatric case of group G streptococcal bacteraemia and vertebral osteomyelitis. The patient is a 14-year-old girl with Gaucher disease type 1 who presented with severe thoracolumbar pain. She was treated with a 4-week course of antibiotics for presumed osteomyelitis with clinical improvement.
December 19, 2016: BMJ Case Reports
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