logging in or signing up Gaucher’s disease gutta_honey Download Post to : URL : Related Presentations : Share Add to Flag Embed Email Send to Blogs and Networks Add to Channel Uploaded from authorPOINT lite Insert YouTube videos in PowerPont slides with aS Desktop Copy embed code: Embed: Flash iPad Copy Does not support media & animations WordPress Embed Customize Embed URL: Copy Thumbnail: Copy The presentation is successfully added In Your Favorites. Views: 462 Category: Entertainment License: All Rights Reserved Like it (0) Dislike it (0) Added: March 19, 2012 This Presentation is Public Favorites: 0 Presentation Description No description available. Comments Posting comment... Premium member Presentation Transcript Gaucher’s disease : Gaucher’s diseaseGaucher’s disease: Gaucher’s disease lysosomal storage disease, caused by failure of lysosomes degrade substances Accumulation of nondegraded compound Increase size and amount lysosomes into reticuloendothelial cells (particularly in the liver, spleen,bone marrow and lung), rendering GD a multi- organchronic disorder .PowerPoint Presentation: Ashkenazi Jewish population (75%), whereas it accounts for only 25% of alleles found in the Caucasian Gaucher population .Decreasing activity of glucocerebrosidase ( glucocerebrosides = glucose + ceramide): Decreasing activity of glucocerebrosidase ( glucocerebrosides = glucose + ceramide ) Residual activity of GlcCerase in patients with GD may vary from 5% to 25% of normalGaucher cells: Gaucher cells Large macrophages (approximately 20–100μm in diameter)loaded with glucosylceramideThree major forms of GD: Three major forms of GD 1 type 2 type 3 typeNonneuronopathic form (type 1) : Nonneuronopathic form ( type 1) characterized by anemia , thrombocytopenia, enlargement of the spleen, skeletal abnormalities ( osteopoenia , lytic lesions, pathological fractures, chronic bone pain, bone crisis, bone infarcts, osteonecrosis and skeletal deformities) and, in a small number of patients, by lung involvement with interstitial lung disease and pulmonary hypertension.19 Type 1 GD patients are usually young adults.Acute neuronopathic form (Type 2 ): Acute neuronopathic form (Type 2 ) This disease variant is characterized by neurological symptoms ( oculomotor abnormalities and brainstem involvement), severe prognosis and survival limited to the first two to three years of life.Type 3 GD : Type 3 GD is also characterized by neurological involvement that usually appears later in life , compared with type 2 . Dementia and spastic syndrome to 10 yearsPathology: Pathology Recent studies have shown that macrophageal activation, resulting in elevated serum levels of interleukin (IL)-1β, IL-6, TNF-α and the soluble IL-2 receptor, is one of the drivers of the GD pathogenesis. The macrophageal activation could potentially explain some clinical features of adult type-1 GDThe pathological mechanism of CNS damage : The pathological mechanism of CNS damage is not fully understood. Infiltration of Gaucher cells into Virchov -Robin spaces has been demonstrated. Reports have described neuronal loss and neuro -degeneration with damaged neurons in the basal ganglia, nuclei of the midbrain, pons, medulla, cerebellum, dentate nucleus and hypothalamus. Recently , an association between GD and Parkinson’s disease has been discovered You do not have the permission to view this presentation. In order to view it, please contact the author of the presentation.