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Chitotriosidase

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https://www.readbyqxmd.com/read/28506293/case-report-of-unexpected-gastrointestinal-involvement-in-type-1-gaucher-disease-comparison-of-eliglustat-tartrate-treatment-and-enzyme-replacement-therapy
#1
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both...
May 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28457694/a-rare-form-of-gaucher-disease-resulting-from-saposin-c-deficiency
#2
Lulu Kang, Xia Zhan, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
Gaucher disease is mainly caused by the deficiency of lysosomal acid β-glucosidase. Gaucher disease caused by the deficiency of saposin C is rare. Here we report a patient mainly presenting with hepatosplenomegaly, thrombocytopenia and anemia. EEG examination revealed increased theta waves. Gaucher cells identified in his bone marrow and the highly elevated plasma chitotriosidase activity and glucosylsphingosine supported a diagnosis of Gaucher disease. However, the leukocyte β-glucosidase activity was in a normal range...
April 3, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28427477/plasma-chitotriosidase-activity-versus-ccl18-level-for-assessing-type-i-gaucher-disease-severity-protocol-for-a-systematic-review-with-meta-analysis-of-individual-participant-data
#3
Tatiana Raskovalova, Patrick B Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K Mistry, Marc Berger
BACKGROUND: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotriosidase activity and CC chemokine ligand 18 (CCL18) have been exchangeably used for monitoring GD activity and response to enzyme replacement therapy in conjunction with clinical assessment. Yet, a large-scale head-to-head comparison of these two biomarkers is currently lacking...
April 20, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28421328/association-of-adiponectin-leptin-and-resistin-with-inflammatory-markers-and-obesity-in-dementia
#4
Małgorzata Bednarska-Makaruk, Ałła Graban, Anna Wiśniewska, Wanda Łojkowska, Anna Bochyńska, Magdalena Gugała-Iwaniuk, Ksenia Sławińska, Agnieszka Ługowska, Danuta Ryglewicz, Hanna Wehr
The aim of the study was to determine the role of adiponectin, leptin and resistin in various types of dementia and to investigate their association with inflammatory markers, insulin resistance and abdominal obesity. In 205 patients with dementia [89 with Alzheimer's disease (AD), 47 with vascular dementia (VaD), 69 with mixed dementia (MD)], 113 persons with mild cognitive impairment and in 107 controls serum adiponectin, leptin and resistin levels, pro-inflammatory [interleukin-6 (IL-6), C-reactive protein (hsCRP) and chitotriosidase] and anti-inflammatory (25-OH vitamin D, HDL-cholesterol and paraoxonase 1) markers, as well as glucose metabolism parameters (glucose, insulin and HOMA-IR) were determined...
April 18, 2017: Biogerontology
https://www.readbyqxmd.com/read/28392356/serum-chitotriosidase-enzyme-activity-is-closely-related-to-hba1c-levels-and-the-complications-in-patients-with-diabetes-mellitus-type-2
#5
Emre Turan, Bulent Sozmen, Mine Eltutan, Eser Y Sozmen
AIMS: Chitotriosidase, is a macrophage sourced enzyme which shows high activity during the course of various storage disorders such as Gaucher's Disease. The aforementioned macrophage sourced enzyme, which has a role in basic immune response, is also high in patients with diabetes. This study was designed to determine the chitotriosidase activities in patients with diabetes and the relationship between the complication of diabetes and chitotriosidase activity. MATERIALS METHODS: This study included 76 patients with type2 diabetes mellitus and 76 healthy subjects...
March 31, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28319420/modelling-long-term-evolution-of-chitotriosidase-in-non-neuronopathic-gaucher-disease
#6
Cristina Drugan, Tudor C Drugan, Paula Grigorescu-Sido, Ioana Naşcu
Chitotriosidase, an enzyme secreted by activated macrophages, is widely used as a biomarker for therapeutic monitoring and patient follow-up in Gaucher disease (GD), a lysosomal disorder caused by an inherited deficiency of glucocerebrosidase. We analyzed the long-term evolution of chitotriosidase aiming to establish an accurate model that describes the influence of enzyme replacement therapy (ERT) and the impact of several covariates. A total of 55 patients with non-neuronopathic (type 1) GD were followed for almost 17 years (during a maximum of 7...
March 20, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28263001/assessment-of-bone-health-in-patients-with-type-1-gaucher-disease-using-impact-microindentation
#7
Sabina Herrera, Jordi Pérez-López, Marc Moltó-Abad, Roberto Güerri-Fernández, Elena Cabezudo, Silvana Novelli, Jordi Esteve, Albert Hernández, Inmaculada Roig, Xavier Solanich, Daniel Prieto-Alhambra, Xavier Nogués, Adolfo Díez-Pérez
Gaucher disease (GD), one of the most common lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD...
March 6, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28251581/chitin-and-its-effects-on-inflammatory-and-immune-responses
#8
REVIEW
Daniel Elieh Ali Komi, Lokesh Sharma, Charles S Dela Cruz
Chitin, a potential allergy-promoting pathogen-associated molecular pattern (PAMP), is a linear polymer composed of N-acetylglucosamine residues which are linked by β-(1,4)-glycosidic bonds. Mammalians are potential hosts for chitin-containing protozoa, fungi, arthropods, and nematodes; however, mammalians themselves do not synthetize chitin and thus it is considered as a potential target for recognition by mammalian immune system. Chitin is sensed primarily in the lungs or gut where it activates a variety of innate (eosinophils, macrophages) and adaptive immune cells (IL-4/IL-13 expressing T helper type-2 lymphocytes)...
March 1, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28222799/assessment-of-plasma-chitotriosidase-activity-ccl18-parc-concentration-and-np-c-suspicion-index-in-the-diagnosis-of-niemann-pick-disease-type-c-a-prospective-observational-study
#9
Isabel De Castro-Orós, Pilar Irún, Jorge Javier Cebolla, Victor Rodriguez-Sureda, Miguel Mallén, María Jesús Pueyo, Pilar Mozas, Carmen Dominguez, Miguel Pocoví
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C...
February 21, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28129403/human-chitotriosidase-is-an-endo-processive-enzyme
#10
Silja Kuusk, Morten Sørlie, Priit Väljamäe
Human chitotriosidase (HCHT) is involved in immune response to chitin-containing pathogens in humans. The enzyme is able to degrade chitooligosaccharides as well as crystalline chitin. The catalytic domain of HCHT is connected to the carbohydrate binding module (CBM) through a flexible hinge region. In humans, two active isoforms of HCHT are found-the full length enzyme and its truncated version lacking CBM and the hinge region. The active site architecture of HCHT is reminiscent to that of the reducing-end exo-acting processive chitinase ChiA from bacterium Serratia marcescens (SmChiA)...
2017: PloS One
https://www.readbyqxmd.com/read/28105569/the-spectrum-of-niemann-pick-type-c-disease-in-greece
#11
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes. We present the clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years...
January 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28103924/combination-therapy-in-a-patient-with-chronic-neuronopathic-gaucher-disease-a-case-report
#12
Ferdinando Ceravolo, Michele Grisolia, Simona Sestito, Francesca Falvo, Maria Teresa Moricca, Daniela Concolino
BACKGROUND: The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase. Enzyme replacement therapy has been shown to improve hematological and bone manifestations associated with Gaucher disease, but, as with most proteins, recombinant enzymes cannot cross the blood-brain barrier, which prevents effects on neurological manifestations...
January 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28012701/assessment-of-the-liver-and-spleen-in-children-with-gaucher-s-disease-type-i-with-diffusion-weighted-mr-imaging
#13
Ahmed Abdel Khalek Abdel Razek, Ahmed Abdalla, Tarik Barakat, Heba El-Taher, Khadiga Ali
PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher's disease type I with diffusion-weighted MR imaging and to correlate hepatic and splenic ADC with parameters of disease severity. SUBJECTS AND METHODS: Prospective study was conducted upon 25 children (11 treated and 14 untreated) with Gaucher's disease and 12 age and sex matched control children. They underwent diffusion-weighted MR imaging of abdomen. Hepatic and splenic ADC and volume were calculated...
December 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28003098/validating-glycoprotein-non-metastatic-melanoma-b-gpnmb-osteoactivin-a-new-biomarker-of-gaucher-disease
#14
Vagishwari Murugesan, Jun Liu, Ruhua Yang, Haiquin Lin, Andrew Lischuk, Gregory Pastores, Xiaokui Zhang, Wei-Lien Chuang, Pramod K Mistry
In the spleens of Gaucher disease mice and patients, there is a striking elevation of expression of glycoprotein non-Metastatic Melanoma B (gpNMB). We conducted a study in a large cohort of patients with Gaucher disease to assess the utility of serum levels of soluble fragment of gpNMB as a biomarker of disease activity. There was >15-fold elevation of gpNMB in sera of untreated patients with Gaucher disease. gpNMB levels correlated with overall disease severity as well as the severity of individual organ compartments: liver, spleen, bone and hematological disease...
December 13, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27928380/facial-dystonia-with-facial-grimacing-and-vertical-gaze-palsy-with-round-the-houses-sign-in-a-29-year-old-woman
#15
J Crespi, G Bråthen, P Quist-Paulsen, J Pagonabarraga, C Roig-Arnall
A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27915031/acid-ceramidase-deficiency-is-characterized-by-a-unique-plasma-cytokine-and-ceramide-profile-that-is-altered-by-therapy
#16
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J Mitchell, Rossella Parini, Maja Di Rocco, Boris Hugle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner-Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Solyom, James S Norris, Xingxuan He, Edward H Schuchman, Thierry Levade, Jeffrey A Medin
Acid Ceramidase Deficiency (Farber disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The cytokines involved in this abnormal hematopoietic state are unknown. There are dozens of ceramide species and derivatives, but the specific ones that accumulate in FD have not been investigated. We used a multiplex assay to analyze cytokines and mass spectrometry to analyze ceramides in plasma from patients and mice with FD, controls, Farber patients treated by hematopoietic stem cell transplantation (HSCT), JIA patients, and patients with Gaucher disease...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27884455/-acid-sphingomyelinase-deficiency-niemann-pick-disease-type-b-in-adulthood-a-retrospective-multicentric-study-of-28%C3%A2-adult-cases
#17
O Lidove, N Belmatoug, R Froissart, C Lavigne, I Durieu, K Mazodier, C Serratrice, C Douillard, C Goizet, P Cathebras, G Besson, Z Amoura, A Tazi, M Gatfossé, S Rivière, T Sené, M T Vanier, J-M Ziza
INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B). METHODS: Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed. RESULTS: Twenty-eight patients (19 males, 9 females) were analyzed...
May 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27878733/hypolipidemic-effect-of-mannan-in-mice-with-acute-lipemia-induced-by-poloxamer-407
#18
N V Goncharova, M V Khrapova, A B Pupyshev, E Ts Korolenko, Z Nešéáková, T A Korolenko
We studied biological effects of mannan, a polysaccharide immunomodulator from C. albicans, that interacts with mannose receptor in vivo. It is shown that preliminary administration of mannan (5 times in a dose of 50 mg/kg or 2 times in a dose of 100 mg/kg) to mice with acute lipemia induced by lipase inhibitor poloxamer 407 (300 mg/kg) reduces the serum concentrations of atherogenic LDL, cholesterol, and triglycerides. Administration of mannan to intact mice and animals with acute lipemia reduces triglyceride concentration and causes labilization of lysosomal membranes in the liver...
November 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27872820/nine-year-experience-in-gaucher-disease-diagnosis-at-the-spanish-reference-center-fundaci%C3%A3-n-jim%C3%A3-nez-d%C3%A3-az
#19
N V Ortiz-Cabrera, J Gallego-Merlo, C Vélez-Monsalve, R de Nicolas, S Fontao Mas, C Ayuso, M J Trujillo-Tiebas
BACKGROUND: Fundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid β-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in the Spanish population. Additionally, the study of the chitotriosidase (CHIT1) gene was used to assess the inflammatory status of patients in the follow-up of enzyme replacement therapy (ERT)...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27865783/the-modulation-of-inflammatory-parameters-brain-derived-neurotrophic-factor-levels-and-global-histone-h4-acetylation-status-in-peripheral-blood-of-patients-with-gaucher-disease-type-1
#20
Alexandre Silva de Mello, Ivy Reichert Vital da Silva, Gustavo Pereira Reinaldo, Gilson Pires Dorneles, Jaqueline Cé, Pedro Dal Lago, Alessandra Peres, Viviane Rostirola Elsner, Janice Carneiro Coelho
OBJECTIVES: Gaucher's disease type 1 (GD1) pathophysiology includes an imbalance on brain-derived neurotrophic factor (BDNF) levels and in the inflammatory system. However, the pathways involved remain poorly understood. The hypothesis of this study is that epigenetic mechanisms might be involved, at least partially, in this phenomenon. DESIGN AND METHODS: This study investigated the BDNF modulation, global histone H4 acetylation and pro- and anti-inflammatory cytokines levels in the peripheral blood of GD1 patients (n=10) when compared with control samples (CS) (n=11)...
March 2017: Clinical Biochemistry
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