China
Africa
Explore chapters and articles related to this topic
Erlenmeyer Flask Deformity
Published in Michael E. Mulligan, Classic Radiologic Signs, 2020
Philippe Gaucher1 described the condition that now bears his name in 1882. This cerebroside disorder leads to packing of the bone marrow with lipid-laden reticuloendothelial cells and causes modeling abnormalities that are especially well demonstrated in the metaphyses of the long bones. The earliest detailed descriptions of the clinical, radiologic and pathologic findings were presented in two separate articles2,3, from the same case material, in 1926. The radiologist involved, Sven Junghagen (Rontgeninstitut Lund), described the abnormal contour of the ends of the long bones in a 3-year-old girl who had clinical and radiographic follow up over a 2-year period. However, it was A.W. Fisher (University of Frankfurt) who seems to have first used the term flask-shaped (flaschenformige) in an article 2 years later4 (Figure 1). He discussed the long bone changes, especially those in the distal femur, in 16 cases. Nine of the patients had a diagnosis of Gaucher’s disease. The others had diagnoses that included: Picks disease, chronic osteomyelitis, arthritis deformans and pernicious anemia. Fisher emphasized that the differences and similarities between cases, that may occur in the shape of the distal femur, are dependent upon the specific disease process involved. Thus, this Erlenmeyer flask-shaped deformity is not specific for Gaucher’s disease. It can be seen with many other disorders especially marrow-packing disorders. The long bone radiographic changes in what is now known as Niemann-Pick’s disease are indistinguishable from those due to Gaucher’s disease.
Gaucher disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
A variety of modalities are used to monitor the progress of therapy in Gaucher disease. Dual-energy X-ray absorptiometry (DXA) is sensitive to changes in bone mineral density and generalized osteopenia, but is insensitive to local changes and cannot reliably predict fracture risk [98]. It has been recommended that conventional MRI be used, and methods using chemical shift reflect the differences in the resonant frequencies of fat and water in bone marrow and can, therefore, detect the reduction in the fat fraction of bone marrow that occurs with infiltration in Gaucher disease. Preferred method is quantitative chemical shift imaging [99], but that is not widely available. Other approaches for semi-quantitative estimation of bone marrow burden of disease have used a scoring system [100]. The most sensitive biomarker that correlates with the disease activity is chitotriosidase [69], but approximately 6 percent of the general population has no activity, resulting from a panethnic inactivating 24-bp duplication [101]. Another marker, CCL18 (also known as PARC/MIP-4/DC-CK1), is elevated 10- to 50-fold in symptomatic Gaucher disease patients [102].
Unexplained Fever In Hematologic Disorders Section 1. Benign Hematologic Disorders
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
Gaucher’s disease is a genetic disorder characterized by accumulation of glucocerebro-sides in the macrophages (Gaucher cells), due to the lack of glucosylceramidase activity. The infiltration of the spleen and the liver with these cells causes the enlargement of the organs. Fever may occur associated with bone pain and without evidence of infection.9 Pulmonary infiltrates may also be present. Splenomegaly may also be found in other storage diseases like Niemann-Pick disease, sea-blue histiocyte syndrome, etc.
N-Methyl-D-Aspartate (NMDA) receptor modulators: a patent review (2015-present)
Published in Expert Opinion on Therapeutic Patents, 2020
Hazem Ahmed, Ahmed Haider, Simon M. Ametamey
Gaucher’s disease (GD) is a genetic disorder caused by a mutation in the GBA1 gene and is the most common out of the 50 lysosomal storage diseases. A patent filed by Yeda Research and Development Company in 2015 claimed the use of established NMDA receptor antagonists in treating the neuropathic forms of GD, i.e., type 2 and 3 [237]. Using 15 different mouse strains, the inventors discovered that GRIN2B polymorphisms are associated with the life expectancy of GD mice, and that administering an NMDA receptor antagonist surprisingly increased their life span [238]. They unraveled a single nucleotide variation (SNP ID rs29869040) in the non-coding area of the GRIN2B that correlated with GD prognosis. In addition, they showed that NMDA receptor agonists such as D-cycloserine reduced survival rate contrary to NMDA receptor antagonists (dizocilpine, memantine, and ifenprodil) which increased the GD mice life span. NMDA receptor antagonists claimed were not necessarily selective toward NMDA receptors, for example concurrently targeting sigma-1 receptors, neither only toward a specific subunit. The claim list included memantine, nitromemantine, neramexane, ketamine, amantadine, dextromethorphan, traxoprodil, ifenprodil, and Ro 25–6981 amongst others, whether alone or as a combination therapy.
Hematological manifestations and complications of Gaucher disease
Published in Expert Review of Hematology, 2021
Shoshana Revel-Vilk, Jeff Szer, Ari Zimran
Gaucher disease (GD) is an autosomal recessive condition caused by inherited mutations in the GBA1 gene leading to reduced activity of the lysosomal enzyme-glucocerebrosidase. Glucocerebrosidase is required for degradation of the major glycolipid glucocerebroside into glucose and ceramide and the minor lipid glucosylsphingosine (lyso-Gb1) into sphingosine and glucose [1]. The activated macrophages, or ‘Gaucher’ cells, harbor the accumulated undegraded glucocerebroside and the population of these cells expands, leading to hepatosplenomegaly, thrombocytopenia, anemia, and bone involvement, but also to the overexpression of various cytokines and chemokines, resulting in inflammation and immune dysregulation.
Photo Essay: Retinal Changes in Type 3 Gaucher Disease
Published in Neuro-Ophthalmology, 2018
Shweta Anand, Desmond Kidd, Derralynn Hughes
A 21-year-old woman with type 3 Gaucher disease (GD) on enzyme replacement therapy was reviewed in clinic. She had no visual symptoms and visual acuity was 6/6 bilaterally. She had clear corneas, quiet anterior chambers and no optic neuropathy. The macula showed white scattered deposits bilaterally, sparing the fovea (Figures 1 and 2). Optical Coherence Tomography examination showed these deposits to be preretinal (Figure 3).