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Gaucher disease type 2

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https://www.readbyqxmd.com/read/28933363/the-spectrum-of-neurological-manifestations-associated-with-gaucher-disease
#1
REVIEW
Tamanna Roshan Lal, Ellen Sidransky
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations...
March 2, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28763689/investigation-of-novel-pharmacological-chaperones-for-gaucher-disease
#2
Buge Yilmazer, Z Begum Yagci, Emre Bakar, Burcu Ozden, Kutlu Ulgen, Elif Ozkirimli
Beta-Glucocerebrosidase (GBA) is a lysosomal protein that is responsible for the hydrolysis of glycosylceramide into glucose and ceramide. Mutations in GBA lead to the accumulation of glycosylceramide in the lysosome causing an enlargement of the spleen and the liver and skeletal deformations. This disease is called Gaucher Disease. Enzyme replacement therapies and substrate reduction methods that are used to treat Gaucher Disease fail when the disease is neuropathic because they fail to pass the blood brain barrier...
July 20, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#3
Barbara K Burton, Joel Charrow, George E Hoganson, Darrell Waggoner, Brad Tinkle, Stephen R Braddock, Michael Schneider, Dorothy K Grange, Claudia Nash, Heather Shryock, Rebecca Barnett, Rong Shao, Khaja Basheeruddin, George Dizikes
OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p...
July 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28702360/treatment-of-profound-thrombocytopenia-in-a-patient-with-gaucher-disease-type-1-is-there-a-role-for-substrate-reduction-therapy
#4
Christine I Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S Kishnani
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treating particular symptoms and the potential benefits of combination treatment. This report details treatment of a patient with Gaucher disease type 1 whose main clinical concern was profound thrombocytopenia (around 20 × 10(9)/L, normal range: 150-450 × 10(9)/L) with several episodes of bleeding with minimal trauma and bruises...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28690585/saccadic-impairments-in-patients-with-the-norrbottnian-form-of-gaucher-s-disease-type-3
#5
Josefine Blume, Stanislav Beniaminov, Cecilia Kämpe Björkvall, Maciej Machaczka, Per Svenningsson
BACKGROUND: Chronic neuronopathic Gaucher's disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3. OBJECTIVE: To characterize the saccades in patients with Norrbottnian GD3 with respect to their neurological and cognitive status using a computer-based eye-tracking technique. METHODS: Horizontal and vertical reflexive saccades as well as antisaccades of nine GD3 patients [4M/5F; 41...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28648811/a-case-of-improved-hearing-with-cochlear-implantation-in-gaucher-disease-type-1
#6
Shiori Endo, Kunihiro Mizuta, Takashi Yamatodani, Hiroshi Nakanishi, Kumiko Hosokawa, Kiyoshi Misawa, Seiji Hosokawa, Hiroyuki Mineta
Gaucher disease is a lysosomal storage disorder that is caused by congenital defective function of the enzyme glucocerebrosidase. Glucocerebroside that is not hydrolyzed by glucocerebrosidase mainly accumulates in the reticular tissue. We describe a Japanese boy with Gaucher disease type 1 who developed bilateral profound sensorineural hearing loss within approximately 4years. We performed cochlear implantation initially on his right ear and again on his left ear 5 months later. The cochlear implants were successfully utilized with a speech discrimination score of 95% on a Japanese sentence recognition test...
June 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28634598/previously-unrecognized-behavioral-phenotype-in-gaucher-disease-type-3
#7
Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil
OBJECTIVE: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28585220/inherited-arterial-calcification-syndromes-etiologies-and-treatment-concepts
#8
REVIEW
Yvonne Nitschke, Frank Rutsch
PURPOSE OF REVIEW: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease. RECENT FINDINGS: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28583274/benign-bone-conditions-that-may-be-fdg-avid-and-mimic-malignancy
#9
REVIEW
Thomas C Kwee, John M H de Klerk, Maarten Nix, Ben G F Heggelman, Stefan V Dubois, Hugo J A Adams
Positron emission tomography with the radiotracer (18)F-fluoro-2-deoxy-d-glucose (FDG) plays an important role in the evaluation of bone pathology. However, FDG is not a cancer-specific agent, and knowledge of the differential diagnosis of benign FDG-avid bone alterations that may resemble malignancy is important for correct patient management, including the avoidance of unnecessary additional invasive tests such as bone biopsy. This review summarizes and illustrates the spectrum of benign bone conditions that may be FDG-avid and mimic malignancy, including osteomyelitis, bone lesions due to benign systemic diseases (Brown tumor, Erdheim-Chester disease, Gaucher disease, gout and other types of arthritis, Langerhans cell histiocytosis, and sarcoidosis), benign primary bone lesions (bone cysts, chondroblastoma, chondromyxoid fibroma, desmoplastic fibroma, enchondroma, giant cell tumor and granuloma, hemangioma, nonossifying fibroma, and osteoid osteoma and osteoblastoma), and a group of miscellaneous benign bone conditions (post bone marrow biopsy or harvest status, bone marrow hyperplasia, fibrous dysplasia, fractures, osteonecrosis, Paget disease of bone, particle disease, and Schmorl nodes)...
July 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28574511/signalome-wide-rnai-screen-identifies-gba1-as-a-positive-mediator-of-autophagic-cell-death
#10
Santosh K Dasari, Shani Bialik, Smadar Levin-Zaidman, Vered Levin-Salomon, Alfred H Merrill, Anthony H Futerman, Adi Kimchi
Activating alternative cell death pathways, including autophagic cell death, is a promising direction to overcome the apoptosis resistance observed in various cancers. Yet, whether autophagy acts as a death mechanism by over consumption of intracellular components is still controversial and remains undefined at the ultrastructural and the mechanistic levels. Here we identified conditions under which resveratrol-treated A549 lung cancer cells die by a mechanism that fulfills the previous definition of autophagic cell death...
July 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28427477/plasma-chitotriosidase-activity-versus-ccl18-level-for-assessing-type-i-gaucher-disease-severity-protocol-for-a-systematic-review-with-meta-analysis-of-individual-participant-data
#11
Tatiana Raskovalova, Patrick B Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K Mistry, Marc Berger
BACKGROUND: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotriosidase activity and CC chemokine ligand 18 (CCL18) have been exchangeably used for monitoring GD activity and response to enzyme replacement therapy in conjunction with clinical assessment. Yet, a large-scale head-to-head comparison of these two biomarkers is currently lacking...
April 20, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28392356/serum-chitotriosidase-enzyme-activity-is-closely-related-to-hba1c-levels-and-the-complications-in-patients-with-diabetes-mellitus-type-2
#12
Emre Turan, Bulent Sozmen, Mine Eltutan, Eser Y Sozmen
AIMS: Chitotriosidase, is a macrophage sourced enzyme which shows high activity during the course of various storage disorders such as Gaucher's Disease. The aforementioned macrophage sourced enzyme, which has a role in basic immune response, is also high in patients with diabetes. This study was designed to determine the chitotriosidase activities in patients with diabetes and the relationship between the complication of diabetes and chitotriosidase activity. MATERIALS METHODS: This study included 76 patients with type2 diabetes mellitus and 76 healthy subjects...
March 31, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28263001/assessment-of-bone-health-in-patients-with-type-1-gaucher-disease-using-impact-microindentation
#13
Sabina Herrera, Jordi Pérez-López, Marc Moltó-Abad, Roberto Güerri-Fernández, Elena Cabezudo, Silvana Novelli, Jordi Esteve, Albert Hernández, Inmaculada Roig, Xavier Solanich, Daniel Prieto-Alhambra, Xavier Nogués, Adolfo Díez-Pérez
Gaucher disease (GD), one of the most common lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD...
July 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28218669/a-review-of-gaucher-disease-pathophysiology-clinical-presentation-and-treatments
#14
REVIEW
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G Berger
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells...
February 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28171725/fluorinated-chaperone-%C3%AE-cyclodextrin-formulations-for-%C3%AE-glucocerebrosidase-activity-enhancement-in-neuronopathic-gaucher-disease
#15
M Isabel García-Moreno, Mario de la Mata, Elena M Sánchez-Fernández, Juan M Benito, Antonio Díaz-Quintana, Santos Fustero, Eiji Nanba, Katsumi Higaki, José A Sánchez-Alcázar, José M García Fernández, Carmen Ortiz Mellet
Amphiphilic glycomimetics encompassing a rigid, undistortable nortropane skeleton based on 1,6-anhydro-l-idonojirimycin and a polyfluorinated antenna, when formulated as the corresponding inclusion complexes with β-cyclodextrin (βCD), have been shown to behave as pharmacological chaperones (PCs) that efficiently rescue lysosomal β-glucocerebrosidase mutants associated with the neuronopathic variants of Gaucher disease (GD), including the highly refractory L444P/L444P and L444P/P415R single nucleotide polymorphs, in patient fibroblasts...
March 9, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28167660/eliglustat-maintains-long-term-clinical-stability-in-patients-with-gaucher-disease-type-1-stabilized-on-enzyme-therapy
#16
RANDOMIZED CONTROLLED TRIAL
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Ozlem Goker-Alpan, Nora Watman, Amal El-Beshlawy, Priya S Kishnani, Maria Lucia Pedroso, Sebastiaan J M Gaemers, Regina Tayag, M Judith Peterschmitt
In the phase 3 Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE), at 1 year, eliglustat was noninferior to imiglucerase enzyme therapy in maintaining stable platelet counts, hemoglobin concentrations, and spleen and liver volumes. After this primary analysis period, patients entered a long-term extension phase in which all received eliglustat. Duration on eliglustat ranged from 2 to 5 years, depending on timing of enrollment (which spanned 2 years), treatment group to which patients were randomized, and whether they lived in the United States when commercial eliglustat became available...
April 27, 2017: Blood
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
#17
MULTICENTER STUDY
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...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28029576/could-enzyme-replacement-therapy-promote-immune-tolerance-in-gaucher-disease-type-1
#18
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/28012701/assessment-of-the-liver-and-spleen-in-children-with-gaucher-s-disease-type-i-with-diffusion-weighted-mr-imaging
#19
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/27922757/hemophagocytic-lymphohistiocytosis-triggered-by-gaucher-disease-in-a-preterm-neonate
#20
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)...
October 2016: Pediatric Hematology and Oncology
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