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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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YAPRAK, B., H. ALADA, and MURAT ALADA. "Viral respiratory tract infection in Gaucher disease, a rare disease: A case study of 24 patients in Malatya-Turkey." Annals of Medical Research 30, no. 3 (2023): 1. http://dx.doi.org/10.5455/annalsmedres.2022.12.382.
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People with chronic diseases have a higher rate of morbidity and mortality from SARS-CoV-2 infection. A rare lysosomal storage disease is Gaucher disease. Chronic myeloid cell immune activation is caused by a decline in acid -glucosidase activity and an accumulation of inflammatory glycosphingolipids in Gaucher disease. Unknown is how SARS-CoV-2 affects rare disease populations like Gaucher disease. Myeloid cell immune activation in Gaucher's disease may predispose to severe effects of this infection. The only study conducted in Turkey so far is this one. People with chronic diseases have a higher rate of morbidity and mortality from SARS-CoV-2 infection. A rare lysosomal storage disease is Gaucher disease. Chronic myeloid cell immune activation is caused by a decline in acid -glucosidase activity and an accumulation of inflammatory glycosphingolipids in Gaucher disease. Unknown is how SARS-CoV-2 affects rare disease populations like Gaucher disease. Myeloid cell immune activation in Gaucher's disease may predispose to severe effects of this infection. The only study conducted in Turkey so far is this one. Eight of our patients reported having contact with someone who had COVID-19 infection or was suspected of having the infection, and in three of these cases (37.5%) the patient reported having at least one symptom of infection. Out of the 18 patients who were tested, 4 (22.2%) had a positive result. Positive test results were associated with more symptoms in patients (3.8 vs 0.3, p0.001) than negative test results. In Gaucher patients, symptoms or positive test results were not correlated with age, gender, BMI, comorbidity, genotype, previous splenectomy, or enzyme replacement therapy. All of our patients only received supportive care; none of them required intensive care or specialized treatment. Our research revealed that there was a low risk of serious side effects in other chronic patients following SARS-CoV-2 infection in Gaucher patients. In this regard, studies with larger case series are required.
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Koželj, Mirta, Samo Zver, and Vesna Zadnik. "Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease." Advances in Hematology 2010 (2010): 1–5. http://dx.doi.org/10.1155/2010/820843.
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There is predominate opinion among physicians managing type 1 Gauchers' disease (GD) that cardiac involvement is not an issue in these patients. In order to follow this hypothesis, we prospectively investigated 15 adult imiglucerase-treated type 1 GD patients by echocardiography, Doppler, and tissue Doppler echocardiography. This was a case-controlled study with 18 matched healthy volunteers. The obtained data was correlated with the levels of NT-proBNP (brain natriuretic peptide). None of the GD patients had clinical signs of heart disease. In 3 of the 15 patients, we observed echocardiographic signs of aortic and mitral valve calcification. The left ventricular systolic function was within normal limits. Compared to the control group, there was no statistically significant difference observed in the most sensitive indices of left ventricular diastolic function, parameterEm(P=.095), andE/Emratio (P=.097), as demonstrated by tissue Doppler echocardiography. However, there was a positive correlation between theE/Emratio and NT-proBNP plasma levels (P=.009). In conclusion, the prospective echocardiographic study of type 1 GD patients did not validate any left ventricular dysfunction. But, theE/Emratio showed a strong statistical correlation with the most sensitive indicators of heart failure, NT-proBNP. Research on larger groups of patients and the usage of even more sensitive methods as strain-rate imaging will be necessary to confirm eventual myocardial involvement in GD patients.
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Dupuis, Lucie, Margaux Chauvet, Emmanuelle Bourdelier, Michaël Dussiot, Nadia Belmatoug, Caroline Le Van Kim, Arnaud Chêne, and Mélanie Franco. "Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells." International Journal of Molecular Sciences 23, no. 14 (July 11, 2022): 7640. http://dx.doi.org/10.3390/ijms23147640.
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Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the accumulation of sphingolipids in macrophages named “Gaucher’s Cells”. These cells are characterized by deregulated expression of cell surface markers, abnormal secretion of inflammatory cytokines, and iron sequestration. These cells are known to infiltrate tissues resulting in hematological manifestations, splenomegaly, and bone diseases. We have already demonstrated that Gaucher red blood cells exhibit altered properties suggesting their key role in GD clinical manifestations. We hypothesized that Gaucher’s erythrocytes could be prone to premature destruction by macrophages contributing to the formation of altered macrophages and Gaucher-like cells. We conducted in vitro experiments of erythrophagocytosis using erythrocytes from Gaucher’s patients or healthy donors. Our results showed an enhanced erythrophagocytosis of Gaucher red blood cells compared to healthy red blood cells, which is related to erythrocyte sphingolipids overload and reduced deformability. Importantly, we showed elevated expression of the antigen-presenting molecules CD1d and MHC-II and of the iron-regulator hepcidin in macrophages, as well as enhanced secretion of the pro-inflammatory cytokine IL-1β after phagocytosis of GD erythrocytes. These results strongly suggested that erythrophagocytosis in GD contribute to phenotypic modifications in macrophages. This present study shows that erythrocytes-macrophages interactions may be crucial in GD pathophysiology and pathogenesis.
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Djokic, Milomir. "Morbus gaucher: A report of two cases." Vojnosanitetski pregled 63, no. 12 (2006): 1039–44. http://dx.doi.org/10.2298/vsp0612039d.
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Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-laden cells, known as Gaucher cells, lead to hepatosplenomegaly, multiorgan dysfunction and sceletal deterioration. Case report. We reported a 36- year-old male and a 42-year-old female admitted for the clinical examination due to hepatosplenomegaly. The Clinical diagnosis was provided by a bone marrow examination and demonstration of the characteristic Gaucher cells. Both of the patients had type I Gaucher's disease (a mild form of the disease), which is distinguished by the lack of central nervous system involvement and striking phenotypic variation. We had not a possibility of testing ?-glucocerebrosidase activity in peripheral leukocytes (a definitive diagnosis of Gaucher's disease). Also, enzyme replacement therapy had not been available in our country. Conclusion. Althoungh rare, Gaucher's disease is also present in our country. Both molecular genetic, and the enzyme ?-glucocerebrosidase activity testing in peripheral leukocytes are needed for the definitive diagnosis of this disease.
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Esteban, Olivia, Miguel Angel Torralba, Susana Olivera, Mireya Martinez, Paula Montes, Sara Marco, and Javier Ascaso. "New correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I." PLOS ONE 16, no. 12 (December 6, 2021): e0260241. http://dx.doi.org/10.1371/journal.pone.0260241.
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Background Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher’s disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity. Methods This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher’s disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and chitotriosidase (ChT)] and severity scoring systems results [“Gaucher Disease Severity Score Index Type I" (GauSSI-I) and “Gaucher disease severity scoring system” (GD-DS3)]. Results Nine subjects (18 eyes) were cases (female: 55.5%, mean age 45 years; male: 44.5%, mean age 36 years) and 40 subjects (80 eyes) were controls (female: 49%, mean age 50 years; male: 51%, mean age 55 years). There were no statistically significant differences when comparing ocular parameters (visual acuity; axial length, refractive errors, corneal parameters, lens, retinal and choroidal thickness) between case and control subjects (p>0.05). A statistically significant moderate correlation was observed between lower retinal thickness and choroidal quadrants thickness and greater disease severity scores. A lower central retinal thickness also correlates with higher biological plasmatic levels, and has a statistically significant association with the most affected patient with genotype N370S/Del 55pb. Conversely, higher pachymetry involves a more severe plasmatic concentration of biomarkers. Conclusions Our results suggest that pachymetry, and retinal and choroidal thickness, are associated with burden biomarkers and disease severity index scores in Spanish patients with Gaucher’s disease Type I.
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Khan, A., P. Stimpson, A. Karmolinski, and N. Patel. "Middle-ear involvement in type I Gaucher's disease – a unique case." Journal of Laryngology & Otology 127, no. 12 (December 2013): 1226–29. http://dx.doi.org/10.1017/s0022215113002521.
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AbstractObjective:Gaucher's disease is a rare autosomal recessive lysosomal storage disease. We describe a unique case of middle-ear involvement presenting with hearing loss.Case report:A five-year-old boy with known Gaucher's disease presented with bilateral hearing impairment and conductive hearing loss on pure tone audiometry with flat tympanometry traces.Intervention:Exploratory Tympanomastoidectomy revealed inflammatory material filling the mastoid and the middle ear. Histological analysis confirmed Gaucher cell infiltrates.Conclusion:This is the first detailed report in the english language literature of Gaucher's disease affecting the middle ear and the mastoid. We discuss the disease process and suggest future management options.
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Okamoto, Atsushi, Kenta Yamamoto, Go Eguchi, Yoshitaka Kanai, Terufumi Yamaguchi, and Yasuhiro Maeda. "MDS/Secondary AML Associated with Type I Gaucher Disease." Blood 132, Supplement 1 (November 29, 2018): 5193. http://dx.doi.org/10.1182/blood-2018-99-116058.
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Abstract [Introduction] Gaucher disease is one of lysosomal diseases, and it is an extremely rare disease characterized by anemia, thrombocytopenia, splenomegaly, multiple pathologic fractures and so on. It has been reported that Gaucher disease often merges with blood malignant diseases. However, there are no reports of myelodysplastic syndrome/secondary AML (MDS/s-AML) concomitant with type I Gaucher disease. Furthermore, we carried out parallel treatment of enzyme replacement therapy for type I Gaucher disease and azacitidine therapy for MDS/s-AML. [Case] A 69-year-old woman admitted to our hospital because of multiple abnormal fractures. She was diagnosed of MDS (refractory anemia) in 2011 by a previous doctor. As anemia and thrombocytopenia gradually worsened on May 2017, she was transferred to our department on August 8, 2017. At the time of visit, typical pneumonia determined with chest X-P and CT has been observed and high value of CRP (11.0mg/dl) was existed. Pneumonia improved promptly with antibiotic therapy, however, high value of CRP continued, and bilateral chest and right back pain got worse. We carried out plain CT and MRI (DWIBS). In results, splenomegaly, bilateral rib fracture and osteolytic changes in the right iliac bone were observed. Although bone marrow biopsy was performed twice without significant findings, Gaucher disease has been suspected and glucocerebrosidase activity was measured. As expected, a significant decrease of the enzyme activity was observed. Finally, a diagnosis of type I Gaucher disease was made. We started enzyme replacement therapy for glucocerebrosidase. Therefore, reduction of splenomegaly and independency of transfusion were induced by several replacement therapy. Further, multiple bone fracture lesions have improved. Further, juvenile leukocyte including myeloblasts in peripheral blood (PB) also decreased. Therefore, we suspected that the replacement therapy improved not only several symptoms of Gaucher disease, but several hematological findings of MDS. However, WT1-mRNA in the peripheral blood has gradually increased. Moreover, progression of MDS/s-AML was observed after two months. We selected azacitidine therapy in considering of performance state of the patient. In addition to enzyme supplementation therapy, azacitidine therapy was performed in parallel. After several treatment of azacitidine, blasts in PB were decreased significantly with independency of transfusion. [Conclusion] We deeply indicate that the combination of enzyme replacement therapy and azacitidine therapy is useful for cases of MDS/s-AML associated with Gaucher disease. There is a possibility that the reduction of the enzyme is involved not only in Gaucher disease but in the ontogeny of blood diseases such as MDS. The effects of enzyme replacement therapy of Gaucher's disease for MDS/s-AML should be discussed. Disclosures No relevant conflicts of interest to declare.
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Singla, Sanjay, Rameshwar Ninama, Bhupesh Jain, and Suresh Goyal. "Gaucher's disease: a case report." International Journal of Research in Medical Sciences 5, no. 4 (March 28, 2017): 1712. http://dx.doi.org/10.18203/2320-6012.ijrms20171295.
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Gaucher's disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. This enzyme is encoded by a gene on chromosome 1. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. Serum β-glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. Here we report a case of Gaucher’s disease.
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Winter, Aaron W., Ali Salimi, Luis H. Ospina, and Jonathan C. P. Roos. "Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder." British Journal of Ophthalmology 103, no. 3 (January 5, 2019): 315–26. http://dx.doi.org/10.1136/bjophthalmol-2018-312846.
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Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher’s can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 – present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.
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Ranieri, E., B. Paton, and A. Poulos. "Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III." Biochemical Journal 233, no. 3 (February 1, 1986): 763–72. http://dx.doi.org/10.1042/bj2330763.
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Activator protein (AP), which stimulated fibroblast sphingomyelinase activity, was isolated from the spleen of a patient with Gaucher's disease type I by the combined techniques of heat and alcohol denaturation, DEAE-cellulose column chromatography, gel filtration, preparative polyacrylamide-gel electrophoresis and decyl-agarose chromatography. Urea/sodium dodecyl sulphate (SDS)/polyacrylamide-gel electrophoresis showed two bands, one with an Mr of approx. 3,000 and the other with an Mr of 5,000-6,500. Similarly, SDS/polyacrylamide-gel electrophoresis performed in the absence of urea revealed the presence of two components, one of which adsorbed to a concanavalin A (Con A) column. Both components stimulated sphingomyelinase activity. On a non-denaturing polyacrylamide gel containing Triton X-100, four major components, two of which bound to Con A, were detected with the dye Stains-All. Cross-reacting material (CRM) to polyclonal Gaucher spleen AP antibodies was detected in normal fibroblasts and in fibroblasts from patients with sphingomyelinase and beta-glucocerebrosidase deficiency states (Niemann-Pick and Gaucher's diseases respectively). CRM in normal fibroblasts adsorbed to Con A columns and had the same mobility on SDS/polyacrylamide-gel electrophoresis as Con A-adsorbing Gaucher spleen AP. Normal AP was not observed in mucolipidosis type II (I-cell disease) fibroblasts; instead, extracts from these cells revealed the presence of two closely migrating bands with higher Mr values than normal fibroblast CRM. Furthermore, extracts of media from I-cell fibroblast cultures, but not from control or Gaucher fibroblast cultures, contained AP activity towards sphingomyelinase and beta-glucocerebrosidase. Fibroblasts from a patient with mucolipidosis type III (pseudo-Hurler polydystrophy) showed an intermediate pattern consisting of normal as well as the higher-Mr CRM. Our data provide evidence for the existence of AP in cultured skin fibroblasts and suggest that these proteins may be targetted to the lysosome by post-translational modification in a similar manner to that reported for lysosomal enzymes.
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Rahman, Syed Hifzur, Smruti Srinivasan, Abhishek Kumar Rai, K. G. Geekesh Kumar, Amey Santosh Sadar, and Sushant Sudhir Srivastava. "Rare Case of Gaucher’s Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report." Journal of Orthopaedic Case Reports 12, no. 3 (2022): 64–67. http://dx.doi.org/10.13107/jocr.2022.v12.i03.2720.
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Introduction: Gaucher’s disease is a congenital lysosomal storage disorder caused by an autosomal recessive mutation in B-glucocerebrosidase. It is a multi-system disease, wherein patients present with hematological abnormalities, joint pain, osteonecrosis, and developmental delay. We present a case of 38-year-old male with a painless solitary soft-tissue swelling over the left proximal tibia, eventually diagnosed it to be a case of Gaucher’s disease. This case is unique in the literature, because this subcutaneous Gaucher mass was not associated with a significant past history and was being evaluated as a standard approach to a bone tumor. Case Presentation: A 38-year-old man presented to our outpatient department with a solitary, painless soft-tissue swelling of the left proximal tibia noticed 6 months back, which has gradually progressed to a present size of 9x5 cm over a period of 6 months. General physical examination revealed moderate splenomegaly. Radiographs showed an osteolytic lesion in the left proximal tibia without cortical erosion. Radiographs for skeletal survey revealed similar osteolytic lesions elsewhere. Hematological investigations revealed thrombocytopenia. A serum protein electrophoresis was found to be normal and the urine was negative for myeloma proteins. Blood workup for endocrine abnormalities was within normal limits. MRI of the lesion suggests bone infarct. Biopsy from the lesion showed a giant binucleate storage cell filled with glucocerebrosides suggestive of Gaucher’s disease. The diagnosis was confirmed by elevated plasma levels of glucocerebrosidases. Conclusion: Gaucher’s disease is a rare metabolic disease of the bone which may mimic a primary bone tumor or metastasis. A step-wise meticulous approach with biopsy and elevated plasma levels of glucocerebrosidase helps establish the diagnosis. Once must have a high index of suspicion for Gaucher’s disease in an adult with multiple osteolytic lesions without any significant past medical and surgical history.
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Rahal, Fadia, Nadjia Brahimi, and Aicha Ladjouze-Rezig. "Gaucher’s disease." Batna Journal of Medical Sciences (BJMS) 2, no. 1 (June 30, 2015): 66–69. http://dx.doi.org/10.48087/bjmstf.2015.2115.
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La maladie de Gaucher (MG) est une maladie lysosomale due au déficit génétique en bglucosidase, de transmission autosomique récessive ; on en distingue trois types. La MG de type 1, la plus fréquente, se caractérise par une splénomégalie dans 90% des cas, une cytopénie (essentiellement, anémie et thrombopénie), et une atteinte ostéoarticulaire infiltrative et destructrice qui impacte souvent la qualité de vie des patients. Les deux autres phénotypes incluent une atteinte neurologique, sévère dans le type 2 qui affecte le nourrisson et évolue rapidement vers le décès, et plus lentement progressive dans le type 3 qui comporte également les symptômes du type 1. Le diagnostic repose sur le dosage de la bglucosidase dans les leucocytes. Cependant, la maladie de Gaucher reste peu connue, et son diagnostic est souvent fait tardivement particulièrement en milieu rhumatologique ou se sont essentiellement les différentes complications ostéarticulaires associées aux manifestations hématologiques qui permettent d’orienter vers cette maladie. Par ailleurs, l’approche thérapeutique dominante est l’enzymothérapie substitutive (ETS), disponible actuellement pour certaines maladies lysosomales.
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Naz, Arshi, Qurat Abedin, Shariq Ahmed, Saima Siddiqui, and Tahir Shamsi. "Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease." Blood 132, Supplement 1 (November 29, 2018): 4952. http://dx.doi.org/10.1182/blood-2018-99-120385.
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Abstract Introduction: Gaucher disease (GD) is one of the lysosomal storage diseases that is rare and inherited autosomal recessively. There is insufficiency of glucocerebrosidase enzyme that leads to the build up of un-degraded substrates in white blood cells causing anemia, hepatosplenomegaly and skeletal disease. This enzyme deficiency is linked with the defect of its gene (GBA) that codes for this enzyme. Initial diagnosis is made by the estimation of glucocerebrosidase level in blood and confirmed by genetic analysis of GBA gene. To identify the mutations of GBA gene in Pakistani patients with GD from different regions of Pakistan. Sampling & methodology: The sample and demographic data was collected in National Institute of Blood Disease and Bone marrow Transplantation after approval of IRB and written informed consent of patients. We collected total 19 blood samples, out of which 5 had Gaucher's disease, 10 samples were parents of the index cases and 4 were control. The methodology consisted of DNA extraction and quantification from peripheral blood. Genetic analysis of coding regions of GBA gene was done via gene amplification, gel electrophoresis and sequencing. Result: Mutation was found in two out of five families that makes the prevalence of GBA gene mutation 40%. These were diagnosed on reduced enzyme levels and found to have L444P (c.1448T>C) mutation in homozygous form in 10th exon of GBA gene. The parents of that patient carried the same mutation in one allele. Rest of the patients who were diagnosed on bone marrow morphology showed no mutation in GBA gene. Conclusion: Our results illustrate that GBA gene mutation was found in those patients who were diagnosed by the estimation of β-glucosidase enzyme levels rather than on bone marrow morphology. In our population, the mutation L444P was found, which is the most frequent gene mutation found in the world. Since this study is conducted in a small number of patients therefore it is recommended that large cohorts of patients should be evaluated in future for genetic mutations among Gaucher's patients in Pakistan Key words: Gaucher disease, storage disorder, GBA gene Disclosures No relevant conflicts of interest to declare.
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Roos, Jonathan C., Susan Z. Wang, and Timothy M. Cox. "Gaucher Disease Psychosine Mis-Traffics Endocytosed Cargo to a Non-Functional, Pre-Lysosomal Compartment." Blood 108, no. 11 (November 16, 2006): 1270. http://dx.doi.org/10.1182/blood.v108.11.1270.1270.
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Abstract Gaucher’s disease is a rare metabolic disorder resulting from a deficiency in glucocerebrosidase activity. It is characterized by the formation of large multinucleate macrophages which accumulate enzyme substrate - principally glucosylsphingosine (psychosine) and glucosylceramide - as well as unrelated products such as cholesterol, lipofuscin, glycopeptides and oligosaccharides. The mechanism of this storage remains obscure. Psychosines have been shown to inhibit cytokinesis (Kanazawa et al., 2000) in cells expressing a G-protein linked receptor: GPR65 (Im et al., 2001). Signalling via GPR65 was shown to affect phosphorylation and calcium release as well as result in the formation of intracellular actin clots. Could such psychosine-triggered signalling account for the secondary accumulation of lipids that are not substrates for glucocerebrosidase in Gaucher disease? We investigated the effects of psychosines and other lysosphingolipids on human macrophages and monocyte-related cell lines expressing GPR65. Trafficking was evaluated by pulse-chase experiments using fluorescent lipids and markers of pH. Changes induced by lysosphingolipids were visualized by electron microscopy and compared with Gaucher cells from affected spleen. Confocal fluorescence and electron microscopy were used to identify sub-cellular compartments. GPR65 expression in Gaucher spleen and other cells was confirmed by RT- PCR. At sub-pathophysiological concentrations (1-5μM), psychosines but not ceramides disrupt endocytosis: mis-trafficked membrane and ingested materials accumulate in a large vesicular compartment. This multivesicular body bears most lysosomal markers including LAMP1 and LAMP2 but has a neutral pH and does not contain acid phosphatase or Cathepsin D -consistent instead with late endosomes. The ultrastructure of the psychosine-treated monocytic cells closely resembles naturally occurring splenic Gaucher cells and both are also of course multinucleate. This suggests that psychosines dysregulate intracellular trafficking in Gaucher disease. Recycling is perturbed and membrane lipids and other cargo accumulate in a pre-lysosomal compartment where, with glucosylceramide, they may be preferentially concentrated. Since related lysolipid metabolites are present in several other sphingolipidoses, we propose that a common trafficking mechanism accounts for the cellular pathology seen in this class of diseases. In addition, an active role for psychosines in pathogenesis may also begin to suggest mechanisms to explain why Gaucher patients carry a high relative risk for developing myeloma and other B-cell dyscrasias (Rosenbloom et al., 2005). The majority of these malignancies are associated with mutations at position 14q32. Receptor GPR65 is also located at that position and its regulation may predispose to mutation and eventual transformation.
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Hughes, Derralynn A., Anna Li, Satish Keshav, and Atul Mehta. "Hepcidin Dysregulation in Patients with Type 1 Gaucher’s Disease." Blood 104, no. 11 (November 16, 2004): 3824. http://dx.doi.org/10.1182/blood.v104.11.3824.3824.
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Abstract Gaucher’s Disease is a glycosphingolipid storage disorder where accumulation of glucosylceramide within reticuloendothelial cells results in diverse systemic manifestations. Patients often present with multifactorial anaemia and elevated ferritin which in the context of chronic inflammation may not truly represent their iron status. We have investigated the iron status and the role of of hepcidin, a negative regulator of iron absorption, in our cohort of patients with type 1 Gaucher Disease. Analysis of haematological indices and haematinic parameters of 57 patients with type 1 Gaucher disease revealed 31% males and 29% females to be anaemic. Of these haematinic parameters were consistent with iron deficiency or anaemia of chronic disease in 45.5% and 27.3% of patients respectively. Measurement of the soluble transferrin receptor (sTFR), which is elevated in iron deficiency and reduced in iron overload, allowed the iron status of patients to be further classified. Of 17 patients in whom the sTFR was measured 64.7% where found to have normal levels, 11.7% had elevated levels indicative of iron deficiency, and 23.5% reduced levels indicating iron overload. The mean ferritin was 79ug/l and 547ug/l in these groups respectively. Levels of serum prohepcidin, the 84 amino acid precursor of hepcidin, were measured using a competitive elisa (DRG diagnostics). Levels of prohepcidin in those patients with normal sTFR were comparable to levels in control subjects: 387.2 +/− 305ng/ml compared to 357 +/1 120 ng/ml. In those patients with elevated sTFR and iron deficiency the prohepcidin level was appropriately suppressed to 112.5 +/− 17.6 ng/ml. Similarly levels in anaemic Gaucher patients were lower than those in patients with normal haemoglobin. However, in those patients with low sTFR and high ferritin the prohepcidin measuring 225 +/−35.3 ng/ml was not appropriately elevated compared to control subjects or Gaucher patients with normal iron status. We hypothesize that storage of glucosylceramide within lysosomes of macrophages interferes with their iron sensing mechanisms and secretion of regulatory cytokines. Iron overload is not appropriately detected and hepatocyte synthesis of hepcidin not upregulated. Progressive accumulation of iron may therefore occur.
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Rahman, Farzana, SK Jakaria Been Sayeed, Sabrina Rahman, AKM Humayon Kabir, and Md Mujibur Rahman. "Gaucher’s Disease - A Rare Cause of Massive Splenomegaly." Journal of Medicine 20, no. 2 (June 27, 2019): 98–101. http://dx.doi.org/10.3329/jom.v20i2.42011.
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Gaucher’s disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it’s one of the rare genetic diseases for which therapy is now available. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystem manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system. Three different subtypes have been identified: Type 1, non-neuropathic form, adult onset; type 2, acute neuropathic form, infantile onset; type 3, neuropathic form, juvenile onset. The diagnosis is confirmed by presence of less than 15% activity of the enzyme Glucocerebrosidase in peripheral leucocyte with presence of Gaucher cells in macrophase monocyte system, is the pathological hallmark. Enzyme replacement therapy (ERT) is now available. We are reporting a case here which presented with cytopenia and massive splenomegaly. This case has been presented to focus on the importance of clinical examinations, differentiating from other diseases of similar manifestations, enzyme activity and bone marrow study for early diagnosis.
J MEDICINE JUL 2019; 20 (2) : 98-101
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Rao, Jayashree S., Sravyasree Sreekantham, Meghashree Vinod Pradeep, and Pradeep N. "Unexplained hepatosplenomegaly: a storage disorder." International Journal of Contemporary Pediatrics 9, no. 8 (July 25, 2022): 772. http://dx.doi.org/10.18203/2349-3291.ijcp20221863.
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Gaucher’s disease (GD), a lysosomal storage disorder is caused by defect in the housekeeping gene lysosomal glucocerebrosidase which is present on the first chromosome (1q22). It was first described by a French physician, Philippe Gaucher in 1882. The metabolic defect is the deficiency of the lysosomal hydrolase β-glucosidase, identified by Brady et al. Hereby we reported a 3 year 6-month-old male child presenting with mass per abdomen. Peripheral smear showed bicytopenia and bone marrow aspiration revealed normal erythropoiesis and Gaucher’s cells in a background of normal erythroid, myeloid, and megakaryocytic lineage cells. An impression of lysosomal storage disorder was given and child was evaluated further by genetic analysis. Therefore, we emphasized the importance of early recognition by clinical manifestation and histological findings. The practicing paediatrician should have an index of suspicion for storage disorders as a differential diagnosis of children with unexplained hepatosplenomegaly. Early diagnosis of GD would lead to initiation of effective treatment with enzyme replacement which can decrease morbidity.
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Alfonso, Pilar, Paz Latre, Ignacio de Blas, Pilar Giraldo, Manuel Giralt, and Miguel Pocovi. "Clinical Evaluation of CCL18/PARC and Chitotriosidase Biomarkers in Gaucher Disease." Blood 106, no. 11 (November 16, 2005): 3885. http://dx.doi.org/10.1182/blood.v106.11.3885.3885.
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Abstract Gaucher’s disease (GD) is an autosomal recessive lysosomal storage disorder, characterized by accumulation of glycosphingolipid in so-called Gaucher cells. The clinical manifestations of Gaucher disease are highly variable, and although certain genotypes are often associated with mild or severe symtomps, a defined correlation between genotype and phenotype does not exist. Identification of serum biochemical markers characteristic of disease may be useful in the diagnosis and monitoring of GD, nevertheless about 6% of the population does not express the chitotriosidase (CT) gene. In this study, we analyzed using currently available enzyme analysis the relationship among two known surrogate markers: CT, which utility in initiation and optimization of costly therapeutic interventions has been highly demonstrated, and a newly-described chemokine, pulmonary and activation-regulated chemokine (CCL18/PARC) as associated to Gaucher disease. Patients and methods: We have analysed 21 control samples, 149 samples of GD patients on enzyme replacement therapy (ERT), and 52 samples of GD patients on substrate reduction therapy (SRT), 4 samples of GD on combined therapy (ERT+SRT) and 7 samples of GD patients without therapy. The samples were stored at −80°C in the biobank of Biochemistry and Molecular and Cellular Biology Department of Zaragoza University. The CT activity and CCL18/PARC quantification were performed simultaneously in the samples obtained at baseline and yearly during 7 years under ERT. Results: our results concluded that both markers levels similarly fell with time and their variations correlated strongly each other, mainly in patients under ERT. The poor correlation of both variables in the case of SRT might be due to small number of samples. These findings demonstrated that CCL18 is a good biomarker of monitoring GD, comparable to CT and very useful in patients without expression of CT gene. Conclusion: The availability of sensitive plasma surrogate markers may be of great value for monitoring the efficacy of treatment, especially in cases of deficiencies of some marker.
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Ponomarev, R. V., S. V. Model, O. M. Averbukh, A. M. Gavrilov, G. M. Galstyan, and E. A. Lukina. "Progressive pulmonary hypertension in a patient with type 1 Gaucher disease." Terapevticheskii arkhiv 89, no. 10 (October 15, 2017): 71–74. http://dx.doi.org/10.17116/terarkh2017891071-74.
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Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease — the development of pneumosclerosis due to macrophage dysfunction. The paper describes a case of progressive pulmonary hypertension in a patient with type 1 Gaucher disease.
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Bokova, T. A. "HEPATOSPLENOMEGALY AS A MANIFESTATION OF RARE (ORPHAN) DISEASES: GAUCHER DISEASE." Pediatria. Journal named after G.N. Speransky 102, no. 2 (April 21, 2023): 124–29. http://dx.doi.org/10.24110/0031-403x-2023-102-2-124-129.
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Hepatosplenomegaly occurs in many diseases. Physicians of various specialties often encounter it in their practice. It is the main clinical symptom in a number of rare (orphan) diseases and in Gaucher disease, in particular. A detailed description of this hereditary disease related to lysosomal storage diseases is presented in the Article as well as its modern diagnostic and treatment features. A clinical case of a six y/o pediatric patient with hepatosplenomegaly who was diagnosed with Gaucher disease type 1 based on a complex of laboratory and instrumental examination methods and prescribed with pathogenetic enzyme replacement therapy is observed.
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Saifutdinov, R. G., R. R. Akhunova, A. A. Kurshakov, E. I. Mitusheva, R. R. Saifutdinov, and S. Ya Volgina. "Gaucher's disease." Experimental and Clinical Gastroenterology, no. 10 (December 23, 2021): 147–54. http://dx.doi.org/10.31146/1682-8658-ecg-194-10-147-154.
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The article presents a rare clinical case of Gaucher's disease, a hereditary disease that belongs to lysosomal accumulation diseases. A 36-year-old patient was admitted to the clinic with complaints of pain in the left half of the abdomen, pain in the chest, cough with yellow sputum, difficulty breathing due to pain, general weakness. The mental underdevelopment, hepatosplenomegaly, anemia, thrombocytopenia, and the threat of rupture of the spleen were revealed in the process of collecting anamnesis and examination. The patient was transferred to the surgical department, and a splenectomy was performed. Histological examination of the spleen and genetic examination confirmed the diagnosis of Gaucher's disease.
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Frutos, Laura López de, Francisco Almeida, Jessica Murillo-Saich, Vasco A. Conceição, Monica Guma, Oswald Queheberger, Pilar Giraldo, and Gabriel Miltenberger-Miltenyi. "Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson’s Disease." International Journal of Molecular Sciences 23, no. 18 (September 8, 2022): 10387. http://dx.doi.org/10.3390/ijms231810387.
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Alterations in the levels of serum sphingolipids and phospholipids have been reported in Gaucher disease and in Parkinson’s disease, suggesting a potential role of these lipids as biomarkers. This project’s objective is to detect novel associations and novel candidate biomarkers in the largest Spanish Gaucher and Parkinson diseases of the Iberian Peninsula. For that, 278 participants were included: 100 sporadic Parkinson’s patients, 70 Gaucher patients, 15 GBA1-mutation-carrier Parkinson’s patients and 93 controls. A serum lipidomics array including 10 phospholipid groups, 368 species, was performed using high-performance liquid chromatography–mass spectrometry. Lipid levels were compared between groups via multiple-regression analyses controlling for clinical and demographic parameters. Additionally, lipid levels were compared within the Gaucher and Parkinson’s groups controlling for medication and/or disease severity. Results were controlled for robustness by filtering of non-detectable lipid values. There was an increase in the levels of phosphatidylcholine, with a simultaneous decrease in lyso-phosphatidylcholine, in the Gaucher, Parkinson’s and GBA1-mutation-carrier Parkinson’s patients vs. controls. Phosphatidylethanolamine, lyso- and plasmalogen-phosphatidylethanolamine were also increased in Gaucher and Parkinson’s. Gaucher patients also showed an increase in lyso-phosphatidylserine and phosphatidylglycerol. While in the Gaucher and Parkinson’s groups, velaglucerase alpha and dopamine agonists, respectively, showed positive associations with the lipid changes, miglustat treatment in Gaucher patients normalized the altered phosphatidylcholine/lyso-phosphatidylcholine ratio. In conclusion, Gaucher and Parkinson’s patients showed changes in various serum phospholipid levels when compared with healthy controls, further supporting the role of such lipids in disease development and, possibly, as putative biomarkers. This hypothesis was reinforced by the normalizing effect of miglustat, and by controlling for data robustness, even though the limited number of participants, especially in the sub-distribution by treatment groups in GD requires validation in a larger number of patients.
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Suner, Ludovic, and François Delhommeau. "Gaucher’s Disease." New England Journal of Medicine 386, no. 20 (May 19, 2022): 1932. http://dx.doi.org/10.1056/nejmicm2116167.
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Kerr, Roger. "Gaucher's Disease." Orthopedics 10, no. 1 (January 1987): 204–10. http://dx.doi.org/10.3928/0147-7447-19870101-33.
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Gundobina, O. S., E. V. Komarova, L. S. Namazova-Baranova, А. K. Gevorkyan, and G. B. Movsisyan. "GAUCHER’S DISEASE." Pediatric pharmacology 10, no. 6 (December 2, 2013): 72. http://dx.doi.org/10.15690/pf.v10i6.899.
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Audemard, Alexandra, Xavier Troussard, Françoise Galateau-Salle, and Margaret Macro. "Gaucher's disease." Hématologie 19, no. 3 (May 2013): 217–22. http://dx.doi.org/10.1684/hma.2013.0789.
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Riley, Edward H., and Joseph M. Lane. "Gaucherʼs disease." Current Opinion in Orthopaedics 6, no. 5 (October 1995): 32–38. http://dx.doi.org/10.1097/00001433-199510000-00006.
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Shrestha, Bikash, Amit Devgan, and Mukti Sharma. "Gaucher’s Disease." Journal of Child Neurology 28, no. 10 (August 21, 2012): 1296–98. http://dx.doi.org/10.1177/0883073812454940.
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VIDYASHANKAR, C., RK SHARMA, SS BHATIA, SC SHARMA, and D. RANGANATHAN. "GAUCHER'S DISEASE." Medical Journal Armed Forces India 55, no. 3 (July 1999): 251–52. http://dx.doi.org/10.1016/s0377-1237(17)30458-6.
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Elstein, Deborah, Aya Abrahamov, Irith Hadas-Halpern, and Ari Zimran. "Gaucher's disease." Lancet 358, no. 9278 (July 2001): 324–27. http://dx.doi.org/10.1016/s0140-6736(01)05490-3.
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Desforges, Jane F., and Ernest Beutler. "Gaucher's Disease." New England Journal of Medicine 325, no. 19 (November 7, 1991): 1354–60. http://dx.doi.org/10.1056/nejm199111073251906.
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Lazarchick, J. "Gaucher's Disease." ASH Image Bank 2002, no. 1015 (October 15, 2002): 100503. http://dx.doi.org/10.1182/ashimagebank-2002-100503.
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Schrier, S. "Gaucher's Disease." ASH Image Bank 2002, no. 1018 (October 18, 2002): 100520. http://dx.doi.org/10.1182/ashimagebank-2002-100520.
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Lazarchick, J. "Gaucher's Disease." ASH Image Bank 2004, no. 0723 (July 23, 2004): 101170. http://dx.doi.org/10.1182/ashimagebank-2004-101170.
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Beaudet, Arthur L. "Gaucher's Disease." New England Journal of Medicine 316, no. 10 (March 5, 1987): 619–21. http://dx.doi.org/10.1056/nejm198703053161009.
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Ch'en, Ian Y., David A. Lynch, Kenneth R. Shroyer, and Marvin I. Schwarz. "Gaucher's Disease." Chest 104, no. 6 (December 1993): 1923–24. http://dx.doi.org/10.1378/chest.104.6.1923.
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Hainaux, B., C. Christophe, S. Hanquinet, and N. Perlmutter. "Gaucher's disease." Pediatric Radiology 22, no. 1 (April 1992): 78–79. http://dx.doi.org/10.1007/bf02011620.
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Gözdaşoğlu, Sevgi. "Gaucher Disease and Gaucher Cells." Turkish Journal of Hematology 32, no. 2 (June 5, 2015): 187–88. http://dx.doi.org/10.4274/tjh.2014.0043.
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Liévin, Valentin, Jonas Meinertz Hansen, Allan Lund, Deborah Elstein, Mads Emil Matthiesen, Kaisa Elomaa, Kaja Zarakowska, et al. "FindZebra online search delving into rare disease case reports using natural language processing." PLOS Digital Health 2, no. 6 (June 29, 2023): e0000269. http://dx.doi.org/10.1371/journal.pdig.0000269.
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Early diagnosis is crucial for well-being and life quality of the rare disease patient. Access to the most complete knowledge about diseases through intelligent user interfaces can play an important role in supporting the physician reaching the correct diagnosis. Case reports may offer information about heterogeneous phenotypes which often further complicate rare disease diagnosis. The rare disease search engine FindZebra.com is extended to also access case report abstracts extracted from PubMed for several diseases. A search index for each disease is built in Apache Solr adding age, sex and clinical features extracted using text segmentation to enhance the specificity of search. Clinical experts performed retrospective validation of the search engine, utilising real-world Outcomes Survey data on Gaucher and Fabry patients. Medical experts evaluated the search results as being clinically relevant for the Fabry patients and less clinically relevant for the Gaucher patients. The shortcomings for Gaucher patients mainly reflect a mismatch between the current understanding and treatment of the disease and how it is reported in PubMed, notably in the older case reports. In response to this observation, a filter for the publication date was added in the final version of the tool available from deep.findzebra.com/<disease> with <disease> = gaucher, fabry, hae (Hereditary angioedema).
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Semenova, L. A., V. A. Khomenko, and K. A. Lukina. "Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)." Genij Ortopedii 28, no. 2 (April 29, 2022): 268–73. http://dx.doi.org/10.18019/1028-4427-2022-28-2-268-273.
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Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher disease is affected in 75–83 % of cases. Moreover, infectious processes may frequently develop, including tuberculosis. Purpose The aim of this work was to demonstrate the features and difficulties in diagnosing osteoarticular pathology in Gaucher disease complicated by tuberculosis infection in patients of different ages. Material and methods The following methods were used in the study: clinical material (including a retrospective case history), additional research methods, imaging diagnosis (radiography, computed tomography, magnetic resonance imaging), data from the protocols of surgical interventions, morphological study of biopsy / surgical material with microbiological confirmation. Results Two case reports are presented that demonstrate destructive changes in bones and joints developed due to Gaucher disease, and its further association with tuberculosis infection. One patient was diagnosed with Gaucher disease in childhood and gradually developed osteoarticular pathology that was later complicated by tuberculous. In the second case, the patient sought medical help due to pain in the lumbar spine as he already had osteoarticular manifestations. Upon further examination at the age of 32, Gaucher disease was diagnosed. Tuberculosis infection of the bones was suspected but was questioned several times by various medical institutions. Conclusion The clinical cases discussed confirm the difficulty of diagnosing osteoarticular pathology in Gaucher disease, especially in associated tuberculosis. This issue dictates the need for a specific examination algorithm.