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Academic literature on the topic 'Gauchers disease'

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Published: 6 September 2023
Last updated: 7 September 2023

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Journal articles on the topic "Gauchers disease"

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Mhatre, Dr Ketan, Dr S. Mahore, Dr K. Bothale, and Dr A. Patrikar. "Gauchers Disease: A Case Report." IOSR Journal of Dental and Medical Sciences 16, no. 03 (April 2017): 107–10. http://dx.doi.org/10.9790/0853-160303107110.

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Kogoleva, Ljudmila V., Julija A. Bobrovskaja, and Sergey V. Milash. "Еye manifestations of Gaucher’s disease." Russian Pediatric Ophthalmology 16, no. 4 (December 15, 2021): 21–26. http://dx.doi.org/10.17816/rpoj87436.

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Gauchers disease is a rare autosomal recessive disease that belongs to the group of sphingolipidoses. This pathology is caused by a lysosomal enzyme glucocerebrosidase deficiency, which leads to its substrate, glucosylceramide, accumulation in macrophages, and leads to damage to the nervous system, parenchymal organs, and the hematopoietic system. The literature reported isolated cases of vision organ damages such as oculomotor function disorders and violations of the structure of the vitreous, retina, cornea, choroid, and conjunctiva. During diagnosis, these clinical symptoms may cause interpretation and, possibly, substitution therapy evaluating difficulties. Retinal changes in Gauchers disease are poorly understood, but they are an important symptom of this disease, which dynamically visualizes and evaluates the substrate deposition in the preretinal and intraretinal layers. The effectiveness of replacement therapy based on the presence of retinal lesions remains controversial. Herein, presented the description of a clinical case of a 10-year-old boy with ocular manifestations of Gauchers disease, a rare orphan disease. The comprehensive ophthalmological examination results revealed preretinal changes in whitish foci in the paramacular zone, microstructural changes in the central retina according to optical coherence tomography, and moderate changes in retinal functions according to electroretinogram, as well as visual field defects and decreased light sensitivity. The revealed changes indicate a violation of metabolic processes in the retinal layers of the eye, which leads to retinal foci (gosher) formation. Noninvasive visualization of these deposits helps assess the disease course and the substitution therapy effectiveness. The management of patients with Gauchers disease requires an interdisciplinary approach with the mandatory involvement of an ophthalmologist.
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Rao, Aparna R., Daiva Parakininkas, Mary Hintermeyer, Annette D. Segura, and Tom B. Rice. "Bilateral lung transplant in Gauchers type-1 disease." Pediatric Transplantation 9, no. 2 (April 2005): 239–43. http://dx.doi.org/10.1111/j.1399-3046.2005.00251.x.

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Vinay, D. J. Vinay, and Sitsabesan Chokkalingam. "Approach to Total Hip Arthroplasty in Gauchers Disease with Pre-Existing Spinopelvic Fusion." Journal of Orthopaedic Case Reports 12, no. 02 (2022): 76–80. http://dx.doi.org/10.13107/jocr.2022.v12.i02.2674.

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Introduction: Avascular necrosis of femoral head secondary to rare metabolic Gaucher’s disease (GD) can cause debilitating hip arthritis in young adults. It is an autosomal recessive disorder caused due to deficiency of lysosome enzyme glucocerebrosidase resulting in accumulation of its substrate in macrophages. The activated macrophages or the Gaucher cells causes hepatosplenomegaly, anemia, and thrombocytopenia. Extensive marrow involvement causes bony deformity, necrosis, and pathological fractures in non-neuropathic GD. Total hip replacement (THR) for young adult with secondary arthritis due to avascular necrosis (AVN) of femoral head in GD is complex and has high failure rate. As the abnormal cell infiltration involves both femoral head and the acetabulum. It becomes even more challenging, when associated spinopelvic fusion preexists. The altered biomechanics needs special attention to the anteversion of the cup placement and deciding the combined ante-version angle (CAVA). Case Presentation:We report a case of GD with avascular necrosis of the femoral head, who underwent spinopelvic fusion to address his osteonecrosis of lumbar vertebra. Previously unreported, here we will discuss the pre-operative radiological evaluation and other intra-operative challenges in the management of GD post-enzyme replacement therapy (ERT) with secondary hip arthritis by THR. Conclusion:Hip replacement surgery in patients with Gaucher disease related to secondary arthritis restores pain free mobility. Despite the young age of the patients with GD, prognosis remains better with THR after enzyme replacement therapy. The pre-operative planning, anticipation of complications in metabolically abnormal hip joints makes it a complex primary THR. However, in patients with the spinopelvic fusion placement of the cup, at the narrow range of angle of version with altered spinopelvic rhythm plays an important role in post-operative prosthetic hip stability and patient mobility. Keywords:Gaucher’s disease, spinopelvic fusion, total hip arthroplasty, enzyme replacement therapy.
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Toom, Sudhamshi, and Elizabeth Sedlis Singer. "Abstract #830: Rare Case of Severe Hypercalcemia: Gauchers Disease." Endocrine Practice 22 (May 2016): 176–77. http://dx.doi.org/10.1016/s1530-891x(20)45164-x.

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Ito, Sawa, and A. John Barrett. "Gauchers Disease—A Reappraisal of Hematopoietic Stem Cell Transplantation." Pediatric Hematology and Oncology 30, no. 2 (January 30, 2013): 61–70. http://dx.doi.org/10.3109/08880018.2012.762076.

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Cohen, Daniel, Dina Kogan, Amir Rubin, Ari Zimran, and Ehud Lebel. "Longevity of total hip arthroplasty implants in patients with Gaucher disease." HIP International 30, no. 2 (September 11, 2019): 147–51. http://dx.doi.org/10.1177/1120700019834919.

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Background: Total hip replacement (THR) is performed for arthritic hip joints, which in Gaucher disease results from osteonecrosis of the femoral head. This procedure was recommended as valid and safe for this group of patients. Nevertheless, long term outcome has not been evaluated in a large cohort. Methods: Data regarding all patients having hip replacement in a relatively large Gaucher clinic was collected. Specifically, details such as patient background and quality of life, implant types, radiographic signs of implant-loosening, and success of implant revision were gathered. Results: The cohort included 48 patients (females 42%, mean age at operation 42 ± 14 years), having 54 hip implants. 15 years survival was 60% and an average implant life was 12.8 years. Longevity was related to implant type, with cementless implants using ceramic-on-ceramic bearing surfaces performing better than other types (no revisions so-far). Older age at surgery also involved a lower revision risk. Gender, disease genotype, and use of cement during the procedure did not have significant effect on longevity. As expected, quality of life and hip related function were better for patients who did not undergo revision. This implies the importance of long-term implant survival Conclusion: Based on these results we recommend THR as a viable treatment for symptomatic hip arthrosis, especially at older age. Specifically, the utilisation of ceramic on ceramic bearing surfaced shows promising result in patients with Gauchers disease.
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Singh, Savitri. "BONE MARROW ASPIRATION STUDY AS A POINTER TO DIAGNOSIS OF GAUCHERS DISEASE." International Journal of Advanced Research 7, no. 4 (April 30, 2019): 930–33. http://dx.doi.org/10.21474/ijar01/8908.

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Kedlaya, Shraddha K., Lenin Sankar Palanisamy, Ravikumar Veeramani, and M. Ramachandran. "An interesting case of neurocutaneous syndrome." International Journal of Research in Medical Sciences 11, no. 9 (August 28, 2023): 3434–36. http://dx.doi.org/10.18203/2320-6012.ijrms20232656.

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Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about 16 disorders with known genetic aetiology like Sjogren Larssons syndrome (SLS), Refsum disease, Gauchers disease type 2, ELOVL4 deficiency etc. Among the various neuroicthyosis syndromes, Sjogren Larsson syndrome is the most common entity characterised by ichthyosis, spastic diplegia or tetraplegia, cognitive dysfunction, seizures, and a maculopathy with glistening white dots. We hereby report a case of neuroichthyosis disease who presented to us with developmental delay, spastic paraplegia, seizure and ichthyosis, whose genetic testing showed homozygous mutation in ALDH3A2, suggestive of Sjogren Larsson syndrome.
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Symeonidis, Argiris, Derralynn Hughes, Linda Richfield, and Atul Mehta. "Variation of Serum Lipid Profile during Enzyme Replacement Therapy, in Patients with Type 1 Gauchers Disease." Blood 108, no. 11 (November 16, 2006): 3849. http://dx.doi.org/10.1182/blood.v108.11.3849.3849.

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Abstract Enzyme Replacement Therapy (ERT) has dramatically changed the clinical course and prognosis of patients with Gaucher disease. We have assessed the extent to which the recently defined Goals of Therapy (Pastores et al, Semin Hematol 41(suppl 5):4–14) in 9 major fields (anemia, thrombocytopenia, hepatomegaly, splenomegaly, skeletal pathology,biomarkers, pulmonary manifestations, growth and functional health and well being) were achieved in our cohort of patients with type I Gaucher disease. Fifty-seven patients (27 females, 30 males, median age at diagnosis 30 years (range 2–77 years) and at start of ERT 39 years (range 5–79 years) were assessed. The median period of ERT was 94 months (range 24–155 months). Patients on ERT for less than 2 years were excluded. Twenty five specific goals are defined within the 9 fields. The median overall success rate was 20 of 25 goals or 80% per patient (range 12–25 goals or 60–100%). The success rate for 9 goals was 100% ( normalization of hemoglobin 1 year post-splenectomy, no major bleeding 1 year after ERT start, doubling of baseline platelet count in severely thrombocytopenic patients 2 years after ERT start, maintenance of platelet count in non-thrombocytopenic patients, prevention of bone crises, reversion of hepatopulmonary syndrome and dependence on oxygen, amelioration of pulmonary hypertension and prevention of rapid deterioration of pulmonary disease and sudden death). Higher success rates were achieved for the goals related to thrombocytopenia (97.9%) and pulmonary manifestations (97%) although in the latter case the applicability was low. Lower success rates were achieved for the goals related to bone manifestations (78.7%). There was no significant difference in the success rate between males and females, splenectomised and non-splenectomised patients, and between patients treated less or more than 6 years. However patients started on ERT before the 40th year of age exhibited significantly higher success rate as compared to patients started after the 40th year (p=0.047) and there was a significant inverse correlation between overall success rate and patient’s age at treatment start (r = − 0.437). Finally, the success rate was higher among double heterozygotes, carrying the N370S mutation, as compared to patients homozygous for the N370S mutation (89.2±9.6% vs. 80.2±12.9%, p=0.016).
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Dissertations / Theses on the topic "Gauchers disease"

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Shebani, Eyman. "Ultrastructural Studies of the Airway Epithelium in Airway Diseases." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6632.

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Monlleó, Mas Ester. "Aminocyclitol and iminosugar derivatives related to Gauche disease." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/400871.

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Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases.A mutation on gene gba1 generates a misfolded enzyme acid β-glucosidase. Due to this, this enzyme is not properly transported from the endoplasmic reticulum (ER) to the lysosome, with the consequent reduction of its lysosomal activity. This leads to the accumulation of the substrate glucosylceramide (GluCer) in the lysosomes of macrophages that originate the clinical symptoms. Besides the expensive Enzymatic Replacement Therapy (ERT), different approaches could be useful to minimize this accumulation of GluCer. One option could be the inhibition of Glucosylceramide Synthase (CGS) in order to reduce the formation of GluCer. Another approach is the use of Pharmacologic Chaperones (PC) that bind to the misfolded GCase in the ER, assisting the correct protein folding and allowing its transport to the lysosome, where the enzymatic degradation of GluCer takes place. In order to facilitate the correct folding of GCase without blocking its hydrolase activity, an ideal PC should show high affinity for GCase in the ER environment (neutral pH) and lower affinity in the lysosome (pH 5.2). For this purpose, we have designed and synthesized two small libraries of compounds in order to study the influence on their affinity to bind GCase of the pKas of the substituents in the side chain of several DNJ derivatives, as well as the pKas of the nitrogen in the sugar mimetic cores, was modulated by introduction of different β- substituents. The synthesized compounds were evaluated as imiglucerase (recombinant Gcase) inhibitors at pH 5.2 and pH 7.0 in presence of detergents that emulate the lipids naturally presents in the cell. In this assay conditions, most of the compounds showed better imiglucerase inhibition at neutral pH than at pH 5.2, but no correlation could be established between the affinity for GCase and their pKas. Even though, it has been discovered the DNJ derivative with higher potency as GCase inhibitor described so far. After analyzing the some representative compounds as GBA1 inhibitors in a detergent-free assay with cell homogenates it has been noticed the importance of the assay conditions when studying the inhibitory potency of different compounds. In this way, the IC50 values obtained in the assay with imiglucerase and detergents drive to totally different conclusions than when the assay was performed with cell homogenates without addition of exogenous detergents. Even so, neither direct correlation between the pKas of the inhibitors and their affinity for GCase could be established at this point. Moreover, the capacity of GCS inhibition of the synthesized compounds was also analyzed, revealing a family of compounds that act as GCS inhibitors more potent that NB-DNJ, a drug that is actually administered as GCS inhibitor for treatment of GD. Going one step further, a family of compounds with potential dual behavior GCS inhibitors and PC for GCase was discovered. On the other hand, GBA2 inhibition studies of the synthesized compounds revealed some nanomolar inhibitors of this enzyme. Finally, a new GBA inhibition assay in intact cell has been developed for the analysis of GBA1 or GBA2 inhibition without lysate cells, and allowing the study of the posterior recovery of GBA activity after inhibitor removal.
La malaltia de Gaucher és una de les malalties d’emmagatzematge lisosomal més freqüent. Una mutació al gen gba1 provoca un incorrecte plegament de l’enzim Glucocerebrosidasa (GCase) que impedeix el seu transport del reticle endoplasmàtic (ER) fins al lisosoma, on té lloc la hidròlisi de la glucosilceramida (GluCer). Això provoca una acumulació d’aquest substrat, originant els símptomes clínics. En aquesta tesi s’ha sintetitzat una petita col·lecció de compostos per tal estudiar la influència del pKa de diferents inhibidors en la seva potencial activitat chaperona, és a dir, estudiar la seva capacitat de unir-se a la GCase mal plegada del reticle per facilitar-ne el correcte plegament i permetre el seu transport cap a lisosoma. Per aquest motiu, es buscaven compostos que presentessin una alta afinitat per la GCase en les condicions neutres del reticle endoplasmàtic, però que tinguessin baixa afinitat per aquest enzim a pHs lleugerament àcids com el del lisosoma (pH 5.2), per tal que no bloquegés l’activitat hidrolasa d’aquest enzim al lisosoma. Desprès d’analitzar els compostos amb diferents assajos, es va posar de manifest la importància de les condicions d’assaig a l’hora d’estudiar la inhibició d’un enzim, ja que diferents assajos poden conduir a conclusions diferents. Malgrat que no es va poder establir cap correlació directa entre el pKa dels inhibidors i la diferència d’activitat segons el pH de l’assaig, es va descobrir un dels derivats de DNJ amb millor potència inhibitòria de imiglucerasa (Gcase recombinant) descrit fins el moment. Per altra banda, es va analitzar la capacitat d’inhibició de GCS dels compostos sintetitzats, descobrint-se alguns inhibidors d’aquest enzim més potents que la NB-DNJ, compost que s’utilitza actualment com a inhibidor de GCS per al tractament de la malaltia de Gaucher, i possible comportament dual (inhibidors de GCS i chaperones per GCase).
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Thomas, A. S. B. "Vascular events in Fabry and Gaucher disease." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1433363/.

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Fabry (FD) and Gaucher (GD) disease are lysosomal storage disorders, caused by single enzyme deficiencies on the glycosphingolipid degradation pathway as a result of genetic mutations in the GLA and GBA genes respectively. These result in a functional enzyme deficiency within the lysosome and accumulation of un-degraded substrate. GD is characterised by a bleeding tendency and bone infarction. Patients with FD suffer from a vasculopathy with strokes, proteinuric renal failure and cardiac conduction defects, but both disorders are highly heterogeneous. Abnormal cytokine profiles and a pro-inflammatory state have been found in both FD and GD, leading to the hypothesis that abnormalities at the blood-endothelial interface affecting coagulation and leucocyte adhesion contribute to the pathology of these disorders. This thesis demonstrates the importance of vascular manifestations in the presentation of both GD and FD with failure to identify the underlying cause of these manifestations resulting in delays between the onset of clinical manifestations and arrival at the correct diagnosis. Abnormalities at the blood-endothelial interface identified in GD include up-regulation of adhesion molecules on lymphocytes that may be of importance in the pathogenesis of bone disease, and increased thrombin generation in an endothelial cell model of GD. In FD, whilst cardiac and renal manifestations occur at earlier onset and with greater severity in men, cerebrovascular disease seems to affect both sexes to a similar degree. Monocytes from females with FD exhibit an age-dependent increase in adhesion mimicking the age-dependent increase in cardiac and renal disease seen in these patients but the mechanisms underlying cerebrovascular disease remain uncertain. Initial investigations of platelet prothrombinase activity suggest this may be enhanced in FD. Further investigation of these abnormalities at the cellular level may shed new insights on, and open up new therapeutic options, for the management of the vascular complications of these disorders.
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Massaro, Giulia. "Intravenously administered gene therapy for neuronopathic Gaucher disease." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10042055/.

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Gaucher disease is a lysosomal storage disorder caused by mutations in the GBA1 gene encoding the enzyme glucocerebrosidase (GCase). Deficiency of GCase causes the accumulation of its substrate glucosylceramide in both visceral organs and the brain. Enzyme replacement therapy is successfully used to ameliorate the visceral pathology, however there is no treatment available for the lethal neurodegeneration. This research focuses on Gaucher disease type II, the most acute neuronopathic form, in which the neuropathology results in death during early infancy. The aim of this project is to intravenously administer adeno-associated viral vector (AAV) based gene therapy to a GCase-deficient mouse model of acute neuronopathic Gaucher disease and assess improvement in lifespan, behaviour, brain and visceral pathology. The untreated Gba1 knock-out mice die 12-14 days after birth following severe neurodegeneration. The AAV vector carrying the functional human GBA1 gene under control of a ubiquitous promoter was intravenously administered to neonatal knock-out mice, with treated animals showing a significant increase in their lifespan (p=0.0081). Since the animals did not develop any evident pathological symptoms, they were sacrificed at 55 days of age for a short-term study. The neuropathology was ameliorated and several of the most affected areas of the brain were partially rescued. The analysis of liver, spleen, lung and heart tissues revealed promising improvements in the visceral pathology. A consequent long-term study was performed on 180-day-old treated mice, with the aim to compare intravenous and intracranial administration of the viral vector. In order to enhance the therapeutic effects of the treatment and improve gene expression in the central nervous system, a novel construct where the GBA1 gene is controlled by a neuron-specific promoter was administered to neonatal knock-out mice. The severe neurodegeneration was further rescued and the life span of treated animals increased. Together, these encouraging results demonstrate that gene therapy could provide an effective treatment for the neuronopathic form of Gaucher disease, for which therapeutic needs are currently unmet.
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Aitchison, K. L. "Lentiviral vectors for gene therapy of Gaucher disease." Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1465062/.

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Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC). GD leads to the accumulation of glucocerebrosides within macrophages, particularly in the liver and spleen. Current treatment is limited to enzyme replacement therapy (ERT) which is effective for most symptoms however skeletal problems are slow to respond. Treatment also has significant cost and impact on quality of life as infusions must be administered every two weeks. GD is a candidate for gene therapy as bone marrow transplantation has been shown to be curative which serves as a proof-of-concept that correction of haematopoietic stem cells (HSCs) can alleviate disease. This project produced lentiviral vectors carrying a range of constructs. GC was modified to contain a protein transduction domain (PTD) which could facilitate cross-correction of untreated cells in vivo. Recombinant vectors carrying PTD-GBA cDNA corrected the metabolic defect in patient-derived fibroblasts with levels of enzyme activity restored to within the healthy range. Transduced cells secreted active protein, uptake of which by untransduced cells was mediated by fusion of a PTD to the C- but not the N-terminus of the enzyme. The skeletal complications of GD are likely to be caused by enzyme deficiency in the osteoclast, a cell of haematopoietic origin. Therefore it is possible that by transducing HSCs we will be able to alleviate skeletal symptoms. To this end it is shown that modification of HSCs does not affect their ability to generate osteoclasts. It is also demonstrated that osteoclasts derived in vitro from the neuronopathic GD mouse model have increased activity and this could be a useful model for osteoclast correction when treating GD. In conclusion, this project generated lentiviral vectors for use in treating Gaucher disease. Further work should include correction of the osteoclast phenotype and further investigation of the potential for cross-correction in vivo.
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Willemsen, Robert. "Gaucher disease an immunoelectron microscopic and biochemical study /." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1995. http://hdl.handle.net/1765/13738.

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Davies, E. H. "Developing markers of neurological manifestations in Neuronopathic Gaucher Disease." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1310245/.

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Gaucher disease is a rare inherited lysosomal disorder caused by deficiency of the enzyme glucocerebrosidase. Classically, three forms of the disease are recognised: type I or nonneuronopathic, type 2 or acute neuronopathic, and type 3 or subacute or chronic neuronopathic. Neuronopathic Gaucher disease (NGD) is defined as a confirmed diagnosis of Gaucher disease in the presence of neurological symptoms and signs, for which there is no other cause. Horizontal gaze palsy is the clinical hallmark of NGD. Other neurological manifestations include seizures, cerebellar ataxia and pyramidal tract involvements. However, NGD is very heterogeneous and the neurological features vary greatly from patient to patient, not only in terms of manifestations involved but also in terms of severity. The emergence of enzyme replacement therapy has changed the ‘natural history’ of the disease, and patients are now living longer where previously they would have succumbed to the visceral complications of the disease. New emerging therapies are being developed for NGD, however a suitable surrogate marker to monitor neurological disease is lacking. In this study, three different assessment tools were explored to examine their value and sensitivity to assess neurological involvement in NGD. A Severity Scoring Tool developed specifically for NGD was modified and validated to offer a robust assessment tool, with demonstrated sensitivity to track disease progression and distinguish between phenotypes. Additional assessments utilised were gait analysis and diffusion tensor imaging, both of which were sensitive enough to distinguish between the NGD and Type I cohort studied. This is the largest cohort of NGD patients (recruited across three European countries) to be studied prospectively and systematically. It is also the first study to describe the gait pattern of NGD children, and to provide an in-vivo insight of the Gaucher brain utilising diffusion tensor imaging.
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Wei, Chao. "Molecular analysis and expression of the human glucocerebrosidase gene." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq36653.pdf.

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Smith, Nicholas James Chapman. "Neuronopathic Gaucher disease : the pathobiological effects of glucosylsphingosine upon cellular actin within the central nervous system." Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648776.

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MADEO, ANNALISA. "Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease." Doctoral thesis, Università degli studi di Genova, 2021. http://hdl.handle.net/11567/1046904.

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Introduzione: La malattia di Gaucher (GD) è la più frequente patologia da accumulo lisosomiale, causata dalla ridotta attività dell’enzima β-glucosidasi acida, che determina un progressivo accumulo di glucosilceramide nelle cellule del sistema reticolo-endoteliale. L’epatosplenomegalia e la citopenia sono le manifestazioni cliniche più comuni, ma i pazienti affetti presentano anche una disregolazione immunologica con alterazione del pattern citochinico e chemochinico e alterazioni funzionali a carico non solo dei monociti-macrofagi, ma anche di linfociti B, T e natural killer (NK). Inoltre, le manifestazioni cliniche sono parzialmente sovrapponibili a quelle della sindrome linfo-proliferativa autoimmune (ALPS) o di altri disordini immunologici ALPS-like. L’obiettivo principale di questo lavoro è l’identificazione di possibili alterazioni immunologiche ALPS-like e di un eventuale difetto di apoptosi nei pazienti con malattia di Gaucher. Pazienti e metodi: Nello studio sono stati arruolati i pazienti con GD valutati presso la UOSD Malattie Rare dell’IRCCS Giannina Gaslini in un periodo di 18 mesi. Per ciascun paziente è stato eseguito uno studio delle sottopopolazioni linfocitarie e dei parametri immunofenotipici e sierologici caratteristicamente alterati nell’ALPS (linfociti T doppi negativi (DNT), B220+DNT, CD27+, T-reg/HLA-DR ratio, IL-10, IL-18, vitamina B12) e uno screening autoanticorpale. Nei pazienti con alterazione significativa di questi parametri è stato eseguito anche uno studio in vitro dell’apoptosi FAS-mediata e dell’attivazione delle caspasi. Risultati: Sono stati inclusi nello studio 41 pazienti, di cui 33 in terapia e 8 non trattati. Un incremento dei linfociti DNT e B220+DNA è stato riscontrato, rispettivamente, in 9/41 (21%) e 7/41 (17%) pazienti. 10/41 (24%) presentavano alterazioni immunologiche suggestive di ALPS, più frequenti nei pazienti non trattati (p=0,003) e nei pazienti con esordio precoce di GD (p=0,01). L’apoptosi indotta da FAS e l’attivazione delle caspasi sono risultate deficitarie in 7 di questi 10 pazienti. Conclusioni: Lo studio dimostra che i pazienti con GD possono presentare delle alterazioni immunologiche ALPS-like e un deficit dell’apoptosi FAS-mediata, più frequenti nei pazienti non trattati e nei pazienti con esordio precoce di malattia. La malattia di Gaucher pertanto dovrebbe essere considerata in diagnosi differenziale nei pazienti con un fenotipo ALPS-like.
BACKGROUND: Gaucher disease (GD) is a rare disorder characterized by defective function of b-glucocerebrosidase, which leads to progressive accumulation of its substrate in various organs, particularly the mononuclear phagocyte system. Hepatosplenomegaly and cytopenia represent the disease’s most common features, but patients with GD also show hyperinflammation, hypergammaglobulinemia, and immune dysregulation involving B, T, and natural killer cells. As clinical phenotype can be underhand, symptoms can overlap with autoimmune lymphoproliferative syndrome (ALPS) or other ALPS-like disorders. OBJECTIVE: To evaluate the ALPS-like immunological pattern and apoptosis function in patients with GD. METHODS: We evaluated lymphocyte subsets and immunophenotypic and serological features of ALPS (double negative T cells [DNTs], B220DDNTs, CD27D, T-reg/HLADR ratio, IL-10, IL-18, vitamin B12) in a population of patients with GD. Moreover, we tested FAS/TRAIL-induced apoptosis and CASP8/CASP10/PARP function in patients showing an immune-dysregulation pattern. RESULTS: A total of 41 patients (33 treated, 8 treatment-naïve) were studied. Nine (21%) and 7 (17%) of 41 patients had high DNT and B220DDNT counts, respectively. Overall, 10 of 41(24%) patients showed immunological features suggestive of ALPS that were more frequent in treatment-naïve subjects (P [ .040 vs P [ .031) and in those with early onset of the disease (P [ .046 vs P [ .011), respectively. FAS-induced apoptosis and caspase activation were further evaluated in these 10 patients and were found to be defective in 7 of them. CONCLUSIONS: We show that patients with GD may have ALPS-like features and FAS-mediated apoptosis defects that are more pronounced in treatment-naïve subjects and in patients with early onset of the disease. Therefore, diagnostic workup of patients with an ALPS-like phenotype should include screening for GD.
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Books on the topic "Gauchers disease"

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Wendy, Schubert, and National Institutes of Health (U.S.). Clinical Center, eds. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center, U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, 1990.

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National Institutes of Health (U.S.). Office of Clinical Center Communications, ed. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center Communications, National Institutes of Health, 1988.

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Kari, Carol. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center, U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 1990.

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4

Grabowski, Gregory A. Gaucher Disease: Basic and Clinical Perspectives. Unitec House, 2 Albert Place, London N3 1QB, UK: Future Medicine Ltd, 2013. http://dx.doi.org/10.2217/9781780842011.

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Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. [Bethesda, Md.?]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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National Institutes of Health (U.S.). Office of Clinical Reports and Inquiries, ed. Gaucher's disease: A nurse's handbook : Clinical Center. Bethesda, Md.?]: U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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7

M, Garber Alan, and United States. Congress. Office of Technology Assessment., eds. Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease. Washington, DC: Office of Technology Assessment, 1992.

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A, Grabowski Gregory, and Gardiner-Caldwell SynerMed, eds. A clinician's guide to Gaucher disease: A treatment algorithm. Califon, N.J: Gardiner-Caldwell SynerMed, 1994.

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9

Karen, Bellenir, ed. Genetic disorders sourcebook: Basic information about heritable diseases and disorders such as Down syndrome, PKU, hemophilia, Von Willebrand disease, Gaucher disease, Tay-Sachs disease, and sickle cell disease ... Detroit, MI: Omnigraphics, 1996.

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Bryant, Jackie. Ceredase in the treatment of Type 1 Gaucher's disease. Bristol: R&D Directorate, NHS Executive South and West, 1996.

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Book chapters on the topic "Gauchers disease"

1

Pavelka, Margit, and Jürgen Roth. "Gaucher’s disease." In Functional Ultrastructure, 112–13. Vienna: Springer Vienna, 2010. http://dx.doi.org/10.1007/978-3-211-99390-3_58.

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Gilbert, Patricia. "Gaucher disease." In The A-Z Reference Book of Syndromes and Inherited Disorders, 131–33. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_34.

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Klein, Michael J. "Gaucher Disease." In Tumors and Tumor-Like Lesions of Bone, 895–904. London: Springer London, 2015. http://dx.doi.org/10.1007/978-1-4471-6578-1_67.

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Edmunds, Tim. "Gaucher Disease." In Protein Misfolding Diseases, 469–85. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470572702.ch21.

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Elstein, Deborah, and Ari Zimran. "Gaucher Disease." In Lysosomal Storage Disorders, 47–57. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch6.

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Hollak, C. E. M. "Gaucher Disease." In Compendium of Inflammatory Diseases, 501–8. Basel: Springer Basel, 2016. http://dx.doi.org/10.1007/978-3-7643-8550-7_88.

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Chen, Harold. "Gaucher Disease." In Atlas of Genetic Diagnosis and Counseling, 1–13. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_103-2.

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Klein, Michael J. "Gaucher Disease." In Tumors and Tumor-Like Lesions of Bone, 871–78. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-28315-5_70.

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Hollak, C. E. M. "Gaucher Disease." In Encyclopedia of Inflammatory Diseases, 1–8. Basel: Springer Basel, 2015. http://dx.doi.org/10.1007/978-3-0348-0620-6_88-2.

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Grabowski, Gregory A. "Gaucher Disease." In Advances in Human Genetics 21, 377–441. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-3010-7_5.

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Conference papers on the topic "Gauchers disease"

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Petrova, Iu A., G. G. Orlova, N. V. Bodareva, V. V. Rudakov, and A. A. Gorbovskaia. "Gaucher disease." In ТЕНДЕНЦИИ РАЗВИТИЯ НАУКИ И ОБРАЗОВАНИЯ. НИЦ «Л-Журнал», 2018. http://dx.doi.org/10.18411/lj-09-2018-72.

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Bahri, ME, S. Othmani, F. Msaddek, B. Louzir, and MO Bahri. "THU0162 Bone involvement in gaucher disease." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.1064.

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Santhanakumaran, V., M. Pechan, V. Knauer, G. Merkel, J. Böhringer, K. Harzer, L. Laugwitz, S. Beck-Wödl, I. Krägeloh-Mann, and S. Groeschel. "Challenges in Biochemical Diagnosis of Krabbe and Gaucher Disease." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739622.

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Phelix, Clyde F., Allen K. Bourdon, Greg Villareal, and Richard G. LeBaron. "Modeling non-clinical and clinical drug tests in Gaucher disease." In 2016 38th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2016. http://dx.doi.org/10.1109/embc.2016.7590978.

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González Rosa, V., MI Sierra Torres, S. Fernández Espínola, M. Zaragoza Rascón, and M. Pajares Alonso. "5PSQ-006 Use of substitute enzymatic treatment and substrate reduction in gaucher disease." In 24th EAHP Congress, 27th–29th March 2019, Barcelona, Spain. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/ejhpharm-2019-eahpconf.439.

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Bucerzan, Simona, Camelia AlKhzouz, Ioana Nascu, Anca Zimmerman, Radu Popp, Cecilia Lazea, and Paula Grigorescu-Sido. "OC-87 Gaucher disease in romania – baseline characteristics, specific diagnosis. treatment and outcome." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.87.

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Attjioui, H., A. Cheikh, Z. Aliat, M. Lazrak, I. Bennani, H. Mefetah, and M. Bouatia. "4CPS-185 The effectiveness of enzyme replacement therapy in the management of gaucher disease." In 24th EAHP Congress, 27th–29th March 2019, Barcelona, Spain. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/ejhpharm-2019-eahpconf.334.

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Attjioui, H., C. Adade, Z. Aliat, A. Cheikh, H. Mefetah, and M. Bouatia. "4CPS-203 Pharmacoeconomic analysis of the management of gaucher disease in a paediatrics hospital." In 24th EAHP Congress, 27th–29th March 2019, Barcelona, Spain. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/ejhpharm-2019-eahpconf.352.

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Schöler, D., E. Mengel, AE Canbay, M. Henning, M. Merkel, V. Keitel-Anselmino, B. Förner, et al. "Increased incidence of HCC in Gaucher disease: A multicentric long-term analysis from 4 German centers." In 37. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0040-1722024.

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Goobie, G. C., S. M. Sirrs, J. Yee, J. C. English, C. Bergeron, R. G. Nador, J. R. Swiston, P. K. Mistry, W. Paquin, and R. D. Levy. "Lung Transplantation in a Patient with Gaucher Disease Type 1: A Case Report and Review of the Literature." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6253.

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