Validation of the GED-C point-scoring system in true Gaucher disease patients

Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Markku Savolainen, Antti Karlsson, Iiro Toppila, Mariann Lassenius, Kaisa Elomaa, Carlos Vaca Falconi, Samppa Rohkimainen
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research

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Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): André Lollert, Christian Hoffmann, Michael Lache, Jochem König, Miriam Brixius-Huth, Julia B. Hennermann, Christoph Düber, Gundula Staatz
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
AbstractEvidence about the link between glucocerebrosidase (GCase) and parkinsonism is growing. Parkinsonism was described in adult type 1 Gaucher disease (GD); few case reports described it in type 3GD. To assess the presence of parkinsonian features in a cohort of Egyptian GD patients and correlate these findings to their genotype, phenotype, severity scoring index (SSI), cognitive function, and the presence of depressive symptoms. Twenty-four GD patients from the Pediatric Hematology Clinic, Ain Shams University, were assessed for medication history, neurological symptoms, depressive symptoms, and family history of park...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 9 March 2020Source: Clinica Chimica ActaAuthor(s): Yonglan Huang, Xuefang Jia, Chengfang Tang, Sichi Liu, Huiying Sheng, Xiaoyuan Zhao, Chunhua Zeng, Li Liu
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
Abstract Gaucher disease (GD) is a common lysosomal storage disorder caused by deficiency of glucocerebrosidase (GCase) due to the pathogenic variants in the GBA gene. The aim of this study was to evaluate the performance of high risk screening program for GD by measuring the enzyme activities of GCase and chitotriosidease in dried blood spots of patients with splenomegaly and/or thrombocytopenia. A total of 787 subjects (364 females and 423 males) with unexplained splenomegaly and/or thrombocytopenia were enrolled in this study from May 2016 to Aug 2019. The cutoff value of GCase activity was set as less than 3.0...
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research
Journal Name: Clinical Chemistry and Laboratory Medicine (CCLM) Issue: Ahead of print
Source: Clinical Chemistry and Laboratory Medicine - Category: Laboratory Medicine Source Type: research
Dr. Henry Mankin has made a profound impact in the fields of skeletal surgery and orthopedics. In a career spanning over 50 years, Dr. Mankin conducted extensive research on and provided treatment for numerous patients with Gaucher disease and spinal tumors such as sacral chordomas. Dr. Mankin's prolific career includes many leadership positions in the field of skeletal surgery, including Chief of Orthopaedics at the Hospital for Joint Diseases and at Massachusetts General Hospital. He has touched the lives of over 19,000 patients with bone and soft tissue tumors and undoubtedly shaped the future of skeletal surgery.
Source: Spine - Category: Orthopaedics Tags: HISTORICAL PERSPECTIVE Source Type: research
Publication date: Available online 24 February 2020Source: Blood Cells, Molecules, and DiseasesAuthor(s): David J. Kuter, Michael Wajnrajch, Betina Hernandez, Rong Wang, Raul Chertkoff, Ari Zimran
Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
Abstract A multicenter, open-label, expanded-access study followed the safety of taliglucerase alfa, a plant cell-expressed recombinant enzyme replacement therapy (ERT), in adults with Gaucher disease previously treated with imiglucerase. Patients received taliglucerase alfa every 2 weeks for 9 months at a dose equivalent to their previous imiglucerase dose (Part A); patients were offered treatment for up to 33 months (Part B), and a later amendment allowed treatment-naïve patients. Fifty-eight patients received taliglucerase alfa (55.2% male; mean age, 46.1 years; mean bi-weekly dose, 35....
Source: Blood Cells, Molecules and Diseases - Category: Hematology Authors: Tags: Blood Cells Mol Dis Source Type: research
To assess magnetic resonance spectroscopy (MRS) bone marrow fat fractions' ability to discern between untreated Gaucher disease patients and healthy controls based on assessment of bone marrow infiltration and evaluate response to enzyme replacement therapy (ERT) on serial imaging.
Source: Clinical Imaging - Category: Radiology Authors: Tags: Pediatric Radiology Source Type: research
y Levade Nathalie Andrieu-Abadie The roles of ceramide and its catabolites, i.e., sphingosine and sphingosine 1-phosphate, in the development of malignancies and the response to anticancer regimens have been extensively described. Moreover, an abundant literature points to the effects of glucosylceramide synthase, the mammalian enzyme that converts ceramide to β-glucosylceramide, in protecting tumor cells from chemotherapy. Much less is known about the contribution of β-glucosylceramide and its breakdown products in cancer progression. In this chapter, we first review published and personal clinical...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
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