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Gauchers disease

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https://www.readbyqxmd.com/read/29656334/four-gaucher-disease-type-ii-patients-with-three-novel-mutations-a-single-centre-experience-from-turkey
#1
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Özlem Hergüner, Serdar Ceylaner, Ferda Özkınay, Sebile Kılavuz, Neslihan Önenli-Mungan
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre...
April 14, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29650800/mgus-lymphoplasmacytic-malignancies-and-gaucher-disease-the-significance-of-the-clinical-association
#2
Neal J Weinreb, Pramod K Mistry, Barry E Rosenbloom, Madhav V Dhodapkar
No abstract text is available yet for this article.
April 12, 2018: Blood
https://www.readbyqxmd.com/read/29625627/a-pilot-screening-of-high-risk-gaucher-disease-children-using-dried-blood-spot-methods-in-shandong-province-of-china
#3
Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li, Hongfang Ding
BACKGROUND: The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) children in China, and to investigate the GD prevalence in this selected population. METHODS: Children were recruited from 20 departments of pediatrics or children's hospitals in Shandong Province, China, due to splenomegaly and/or thrombocytopenia associated with one or more of the following creteria: anemia, history of bone pain, monoclonal gammopathy of unknown significance (MGUS), polyclonal gammopathy and splenectomy...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29610006/-type-3-gaucher-disease-also-an-adult-disease
#4
A Leurs, A Chepy, C Detonellaere, L Pascal, P Gallois, T-A-C Tran, C Caillaud, P-Y Hatron, C Rose
INTRODUCTION: Gaucher disease is a genetic lysosomal storage disorder due to a glucocerebrosidase deficiency. Type 3, including neurological impairment, may have a specific phenotype in the context of the D409H mutation. OBSERVATION: We report the case of a 22-year-old woman who presented with Gaucher disease. Enzyme replacement therapy by imiglucerase was followed by rapid clinical and biological improvement. However, communication difficulties, which were initially attributed to the language barrier, revealed neurological impairment...
March 30, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29607434/gaucher-disease-in-an-adult-a-rare-cause-of-hepatosplenomegaly-in-adults
#5
Volkan Karakus, Yelda Dere, Ozcan Dere, Fahri Sahin, Nazan Ozsan
No abstract text is available yet for this article.
2018: Northern Clinics of Istanbul
https://www.readbyqxmd.com/read/29602947/high-risk-screening-for-gaucher-disease-in-patients-with-neurological-symptoms
#6
Ken Momosaki, Jun Kido, Shirou Matsumoto, Shinichiro Yoshida, Atsuko Takei, Takuya Miyabayashi, Keishin Sugawara, Fumio Endo, Kimitoshi Nakamura
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3). The high-risk screening of neuronopathic GD has been performed using an enzymatic assay on the dried blood spot (DBS) samples. We enrolled a total of 102 individuals (47 females, 55 males; 0-57 years old; median age 10...
March 30, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29601200/gluco-1h-imidazole-a-new-class-of-azole-type-%C3%AE-glucosidase-inhibitor
#7
Sybrin P Schröder, Liang Wu, Marta Artola, Thomas Hansen, Wendy A Offen, Maria J Ferraz, Kah-Yee Li, Johannes M F G Aerts, Gijsbert A van der Marel, Jeroen D C Codée, Gideon J Davies, Herman S Overkleeft
Gluco-azoles competitively inhibit glucosidases by transition-state mimicry and their ability to interact with catalytic acid residues in glucosidase active sites. We noted that no azole-type inhibitors described, to date, possess a protic nitrogen characteristic for 1H-imidazoles. Here, we present gluco-1H-imidazole, a gluco-azole bearing a 1H-imidazole fused to a glucopyranose-configured cyclitol core, and three close analogues as new glucosidase inhibitors. All compounds inhibit human retaining β-glucosidase, GBA1, with the most potent ones inhibiting this enzyme (deficient in Gaucher disease) on a par with glucoimidazole...
March 30, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29595653/type-i-gaucher-disease-with-bullous-pemphigoid-and-parkinson-disease-a-case-report
#8
Damien Le Peillet, Virginie Prendki, Véronique Trombert, Emmanuel Laffitte, Frédéric Assal, Jean Luc Reny, Christine Serratrice
RATIONALE: Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy)...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29579979/cheese-matrix-protects-the-immunomodulatory-surface-protein-slpb-of-propionibacterium-freudenreichii-during-in-vitro-digestion
#9
Houem Rabah, Olivia Ménard, Floriane Gaucher, Fillipe Luiz Rosa do Carmo, Didier Dupont, Gwénaël Jan
Propionibacterium freudenreichii is a traditional Swiss-type cheeses starter and constitutes an emergent probiotic, exerting several beneficial effects, including anti-inflammatory modulation of gut inflammation. This feature relies on several metabolites and on surface proteins, with a prominent role of the surface protein SlpB. In this study, we firstly investigated the relevance to avoid SlpB digestive proteolysis, by comparing the effect of i) P. freudenreichii CIRM-BIA 129, ii) its native Slps, or iii) peptides resulting from Slps digestive proteolysis, with respect to modulation of HT-29 cells response to a lipopolysaccharide (LPS) challenge...
April 2018: Food Research International
https://www.readbyqxmd.com/read/29579237/acid-ceramidase-inhibition-ameliorates-%C3%AE-synuclein-accumulation-upon-loss-of-gba1-function
#10
Myung Jong Kim, Sohee Jeon, Lena F Burbulla, Dimitri Krainc
GBA1 encodes the lysosomal enzyme β-glucocerebrosidase (GCase) which converts glucosylceramide into ceramide and glucose. Mutations in GBA1 lead to Gaucher's disease and are a major risk factor for Parkinson's disease (PD) and Dementia with Lewy bodies (DLB), synucleinopathies characterized by accumulation of intracellular α-synuclein. In this study, we examined whether decreased ceramide that is observed in GCase-deficient cells contributes to α-synuclein accumulation. We demonstrated that deficiency of GCase leads to a reduction of C18-ceramide species and altered intracellular localization of Rab8a, a small GTPase implicated in secretory autophagy, that contributed to impaired secretion of α-synuclein and accumulation of intracellular α-synuclein...
March 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29578427/evaluation-of-efficiency-of-imiglucerase-cerezyme-in-the-treatment-of-gaucher-disease-case-reports-and-review-of-the-literature
#11
O Samohalska, S Kornaga, Z Mandziy, T Boiko, L Radetska
The data on occurrence and pathogenetic mechanisms of glucosylceramide lipidosis (Gaucher disease), which is based on the hereditary deficiency of glucocerebrosidase activity -the enzyme involved in the processing of cellular metabolism products, is presented. Clinical and morphological manifestations of the disease, therapeutic tactics and prognosis are defined. A typical clinical case of Gaucher disease type 1 in two adult patients was analyzed. It is shown that timely diagnosis of Gaucher disease allows the prescription of adequate treatment by means of enzyme replacement therapy with cerezyme drug...
February 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29572599/laparoscopic-fenestration-for-a-huge-symptomatic-splenic-cyst-in-a-patient-with-gaucher-s-disease
#12
Kyohei Abe, Hiroaki Shiba, Junichi Shimada, Shinji Onda, Taro Sakamoto, Katsuhiko Yanaga
A 34-year-old woman visited our hospital for treatment of a huge splenic cyst with epigastric pain. She had been diagnosed with Gaucher's disease (Type 1) at 3 years of age and had been receiving enzyme replacement therapy (ERT) from 15 years of age. Abdominal MRI showed a low-intensity area, 30 cm in diameter, with a well-defined border on T1-weighted images. The patient underwent laparoscopic fenestration of the huge splenic cyst for relief of worsening epigastric pain caused by the cyst. The cyst contained 2,500 ml of brownish-red fluid...
March 23, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29550539/dysregulation-of-the-autophagic-lysosomal-pathway-in-gaucher-and-parkinson-s-disease
#13
REVIEW
Caleb Pitcairn, Willayat Yousuf Wani, Joseph R Mazzulli
The finding that mutations in the Gaucher's Disease (GD) gene GBA1 are a strong risk factor for Parkinson's Disease (PD) has allowed for unique insights into pathophysiology centered on disruption of the autophagic-lysosomal pathway. Protein aggregations in the form of Lewy bodies and the effects of canonical PD mutations that converge on the lysosomal degradation system suggest that neurodegeneration in PD is mediated by dysregulation of protein homeostasis. The well-characterized clinical and pathological relationship between PD and the lysosomal storage disorder GD emphasizes the importance of dysregulated protein metabolism in neurodegeneration, and one intriguing piece of this relationship is a shared phenotype of autophagic-lysosomal dysfunction in both diseases...
March 14, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29530534/plasma-chitotriosidase-activity-versus-plasma-glucosylsphingosine-in-wide-spectrum-of-gaucher-disease-phenotypes-a-statistical-insight
#14
Anna Tylki-Szymańska, Paulina Szymańska-Rożek, Piotr Hasiński, Agnieszka Ługowska
Deficiency of beta-glucocerebrosidase (GBA) leads to Gaucher disease (GD), an inherited disorder characterised by storage of glucosylceramide (GlcCer) in lysosomes of tissue macrophages. Macrophages activated by accumulated GlcCer secrete chitotriosidase. Plasma chitotriosidase activity is significantly elevated in patients with active GD and has been suggested to indicate total body Gaucher cell load. There are two biomarkers used to assess the severity of GD - chitotriosidase has been measured for over 20 years, and deacylated GlcCer, known as glucosylsphingosine (GlcSph) is thought to be even more adequate, as it is almost a direct storage substrate...
February 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29521675/splenectomy-in-gaucher-disease-a-call-for-minimally-invasive-surgery
#15
Michael R Freund, Petachia Reissman, Ari Zimran, Joseph Alberton
OBJECTIVE: The objective of this article was to demonstrate that Gaucher disease (GD) patients with refractory hypersplenism and massive splenomegaly may successfully undergo hand-assisted laparoscopic splenectomy (HALS). METHODS: This was a retrospective audit conducted at the Gaucher clinic at a national referral center over a 10-year period. PATIENT POPULATION: This study included 8 GD patients who underwent hand-assisted or conventional laparoscopic splenectomy for massive or complicated splenomegaly between the years 2007 and 2017...
March 7, 2018: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
https://www.readbyqxmd.com/read/29516569/a-hilic-ms-ms-method-for-simultaneous-quantification-of-the-lysosomal-disease-markers-galactosylsphingosine-and-glucosylsphingosine-in-mouse-serum
#16
Rohini Sidhu, Christina R Mikulka, Hideji Fujiwara, Mark S Sands, Jean E Schaffer, Daniel S Ory, Xuntian Jiang
Deficiencies of galactosylceramidase and glucocerebrosidase result in the accumulation of galactosylsphingosine (GalSph) and glucosylsphingosine (GluSph) in Krabbe and Gaucher diseases, respectively. GalSph and GluSph are useful biomarkers for both diagnosis and monitoring of treatment effects. We have developed and validated a sensitive, accurate, high throughput assay for simultaneous determination of the concentration of GalSph and GluSph in mouse serum. GalSph and GluSph and their deuterated internal standards were extracted by protein precipitation in quantitative recoveries, baseline separated by hydrophilic interaction chromatography, and detected by positive-ion electrospray mass spectrometry in multiple reaction monitoring mode...
March 8, 2018: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/29503270/diagnosis-and-management-of-gaucher-disease-in-india-consensus-guidelines-of-the-gaucher-disease-task-force-of-the-society-for-indian-academy-of-medical-genetics-and-the-indian-academy-of-pediatrics
#17
Ratna Dua Puri, Seema Kapoor, Priya S Kishnani, Ashwin Dalal, Neerja Gupta, Mamta Muranjan, Shubha R Phadke, Anupam Sachdeva, Ishwar C Verma, Pramod K Mistry
JUSTIFICATION: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD has paucity of information and optimal management guidelines for Indian patients. PROCESS: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics...
February 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29491734/identification-of-a-missense-mutation-in-the-%C3%AE-galactosidase-a-gene-in-a-chinese-family-with-fabry-disease
#18
REVIEW
Yuan Wu, Hong Xia, Jinzhong Yuan, Hongbo Xu, Xiong Deng, Jun Liu, Hao Zhang, Hao Deng
Introduction: Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity pain, renal impairment, cardiac complications and cerebrovascular manifestations. It is caused by mutations in the α-galactosidase A gene (gene symbol GLA) on chromosome Xq22, which leads to deficiency of lysosomal α-galactosidase A (α-Gal A), and subsequent accumulation of glycosphingolipids in various tissues and organs...
January 2018: Current Genomics
https://www.readbyqxmd.com/read/29489979/gaucher-s-disease-in-a-patient-presenting-with-hip-and-abdominal-pain
#19
Mustafa Resorlu, Nilufer Aylanc, Ozan Karatag, Canan Akgun Toprak
Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy...
December 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/29481565/analysis-of-age-related-changes-in-psychosine-metabolism-in-the-human-brain
#20
Michael S Marshall, Benas Jakubauskas, Wil Bogue, Monika Stoskute, Zane Hauck, Emily Rue, Matthew Nichols, Lisa L DiAntonio, Richard B van Breemen, Jeffrey H Kordower, Carlos A Saavedra-Matiz, Ernesto R Bongarzone
α-Synuclein aggregation has been linked to Gaucher's disease (GD) and Krabbe's disease (KD), lysosomal conditions affecting glycosphingolipid metabolism. α-Synuclein pathology has been directly attributed to the dysregulation of glycosphingolipids in both conditions, specifically to increased galactosylsphingosine (psychosine) content in the context of KD. Furthermore, the gene (GALC) coding for the psychosine degrading enzyme galactosylceramidase (GALC), has recently been identified as a risk loci for Parkinson's disease...
2018: PloS One
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