keyword
MENU ▼
Read by QxMD icon Read
search

Gaucher

keyword
https://www.readbyqxmd.com/read/28088251/lucerastat-an-iminosugar-with-potential-as-substrate-reduction-therapy-for-glycolipid-storage-disorders-safety-tolerability-and-pharmacokinetics-in-healthy-subjects
#1
N Guérard, O Morand, J Dingemanse
BACKGROUND: Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease and Fabry disease. The safety, tolerability, and pharmacokinetics of oral lucerastat were evaluated in two separate randomized, double-blind, placebo-controlled, single- and multiple-ascending dose studies (SAD and MAD, respectively) in healthy male subjects. METHODS: In the SAD study, 31 subjects received placebo or a single oral dose of 100, 300, 500, or 1000 mg lucerastat...
January 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28063644/are-transient-and-shear-wave-elastography-useful-tools-in-gaucher-disease
#2
Muriel Webb, Ari Zimran, Tama Dinur, Oren Shibolet, Stella Levit, David M Steinberg, Ophira Salomon
Up to now, there are no reliable biochemical markers or imaging that could reveal early tissue damage in Gaucher disease. Therefore, we addressed whether elastography technique can serve as a tool for evaluating patients with Gaucher disease. The study included 42 patients with Gaucher disease type I and 33 patients with liver cirrhosis as well as 22 healthy volunteers. Ultrasound and Doppler examination was performed on each participant prior to apply transient and 2D shear wave elastography. In Gaucher disease the median stiffness of the spleen as assessed by transient elastography (TE) and shear wave elastography (SWE) was 35KPa and 22KPa respectively in contrast to the median stiffness of healthy controls (16...
December 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28060125/massive-mesenteric-lymphadenopathy-causing-protein-losing-enteropathy-in-gaucher-disease
#3
Ewan A Simpson, Matthew R F Jaring, Savvas Andronikou
Protein-losing enteropathy due to massive mesenteric lymphadenopathy is a rare complication of Gaucher disease which is generally refractory to treatment with enzyme replacement and substrate reduction therapies. It is postulated that lymph nodes may act as a "sanctuary site" into which these treatments cannot penetrate. We present the case of a male child with Gaucher disease who developed massive mesenteric lymph nodes despite otherwise successful treatment with enzyme replacement therapy, and subsequently developed protein-losing enteropathy...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28052128/gba2-mutations-cause-a-marinesco-sj%C3%A3-gren-like-syndrome-genetic-and-biochemical-studies
#4
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
BACKGROUND: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation. METHODS AND RESULTS: Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c...
2017: PloS One
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#5
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
December 6, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28034821/prevalence-of-autoantibodies-in-the-course-of-gaucher-disease-type-1-a-multicenter-study-comparing-gaucher-disease-patients-to-healthy-subjects
#6
Christine Serratrice, Nesma Bensalah, Guillaume Penaranda, Nathalie Bardin, Nadia Belmatoug, Agathe Masseau, Christian Rose, Olivier Lidove, Fabrice Camou, François Maillot, Vanessa Leguy, Nadine Magy-Bertrand, Isabelle Marie, Patrick Cherin, Monia Bengherbia, Sebastian Carballo, José Boucraut, Jacques Serratrice, Marc Berger, Denis Verrot
OBJECTIVES: Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned. Primary Endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence...
December 26, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28029576/could-enzyme-replacement-therapy-promote-immune-tolerance-in-gaucher-disease-type-1
#7
Marina Cadena Matta, Filippo Vairo, Leuridan Cavalcante Torres, Ida Schwartz
Among the lysosomal storage disorders, Gaucher disease (GD) features some of the most striking alterations in the immune system, including increased levels of cytokines and chemokines. Although studies have demonstrated the efficacy of enzyme replacement therapy (ERT) for GD, the ideal dosage remains controversial. In this study, we report differences in levels of cytokines (IL-6, TNF-a, and IFN-y) and chemokines (IL-8, IP-10, and MCP-1) in patients with GD type 1 treated with different ERT dosages and treatment durations...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28029334/patient-reported-outcomes-in-rare-lysosomal-storage-diseases-key-informant-interviews-and-a-systematic-review-protocol
#8
Patricia A Miller, Sohail M Mulla, Thomasin Adams-Webber, Yasmin Sivji, Gordon H Guyatt, Bradley C Johnston
OBJECTIVES: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II)...
December 28, 2016: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/28027836/frit-inlet-field-flow-fractionation-techniques-for-the-characterization-of-polyion-complex-self-assemblies
#9
Ugo Till, Mireille Gaucher, Baptiste Amouroux, Stéphane Gineste, Barbara Lonetti, Jean-Daniel Marty, Christophe Mingotaud, Carmen R M Bria, S Kim Ratanathanawongs Williams, Frédéric Violleau, Anne-Françoise Mingotaud
Polymer self-assemblies joining oppositely charged chains, known as polyion complexes (PICs), have been formed using poly(ethyleneoxide - b - acrylic acid)/poly(l-lysine), poly(ethyleneoxide-b-acrylic acid)/dendrigraft poly(l-lysine) and poly[(3-acrylamidopropyl) trimethylammonium chloride - b - N - isopropyl acrylamide]/poly(acrylic acid). The self-assemblies have been first characterized in batch by Dynamic Light Scattering. In a second step, their analysis by Flow Field-Flow Fractionation techniques (FlFFF) was examined...
December 19, 2016: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28024892/classifying-the-additional-morbidities-of-gaucher-disease
#10
Mirjam Langeveld, Deborah Elstein, Jeff Szer, Carla E M Hollak, Ari Zimran
No abstract text is available yet for this article.
December 19, 2016: Blood Cells, Molecules & Diseases
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
#11
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/28011901/efferocytosis-is-impaired-in-gaucher-macrophages
#12
Elma Aflaki, Daniel K Borger, Richard J Grey, Martha Kirby, Stacie Anderson, Grisel Lopez, Ellen Sidransky
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes. Studies of macrophages from patients with type 1 Gaucher disease with genotypes N370S/N370S, N370S/L444P or N370S/c.84dupG revealed that Gaucher macrophages have impaired efferocytosis resulting from reduced levels of p67phox and Rab7. The decreased Rab7 expression leads to impaired fusion of phagosomes with lysosomes...
December 23, 2016: Haematologica
https://www.readbyqxmd.com/read/28007442/analysis-of-sheep-%C3%AE-synuclein-provides-a-molecular-strategy-for-the-reduction-of-fibrillation
#13
Lungisa Bickle, John J Hopwood, Litsa Karageorgos
Parkinson's disease (PD) presents with neuropathological inclusions called Lewy bodies, which are primarily composed of fibrillar α-synuclein. Recently, we characterized sheep with Gaucher disease and since GBA1 mutations represent the highest genetic risk factor for PD, we have investigated α-synuclein fibrillation in the sheep. Here we demonstrate that differences in six amino acid residues between sheep and human α-synuclein significantly alter in vitro fibril formation. Circular dichroism of recombinant human and sheep α-synuclein show that both proteins adopt the same secondary structure...
December 19, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28007403/the-additive-effect-on-the-antiepileptic-treatment-of-ambroxol-in-type-3-gaucher-patient-the-early-observation
#14
Lukasz Pawlinski, Maciej T Malecki, Beata Kiec-Wilk
No abstract text is available yet for this article.
December 11, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28003644/norrbottnian-clinical-variant-of-gaucher-disease-in-southern-italy
#15
Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio, Daniela Concolino
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical histories characterized by the early onset of significant hepatosplenomegaly, often requiring splenectomy at an early age...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/28003098/validating-glycoprotein-non-metastatic-melanoma-b-gpnmb-osteoactivin-a-new-biomarker-of-gaucher-disease
#16
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/27994399/serous-retinal-detachment-in-dome-shaped-macula-with-7-years-follow-up
#17
Adel G Alakeely, Saba Alrashaed
Dome-shaped macula (DSM) was first described by Gaucher et al. as a convex protrusion of macula within a staphyloma in highly myopic eyes that cause visual impairment associated with serous foveal detachment (SFD). We describe a patient with persistent SFD in DSM documented by serial spectral domain optical coherence tomography for 7 years with stable vision.
October 2016: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/27993825/invasive-group-g-streptococcal-infection-in-a-paediatric-patient
#18
Sejal Makvana Bhavsar, Gail F Shust
We present a paediatric case of group G streptococcal bacteraemia and vertebral osteomyelitis. The patient is a 14-year-old girl with Gaucher disease type 1 who presented with severe thoracolumbar pain. She was treated with a 4-week course of antibiotics for presumed osteomyelitis with clinical improvement.
December 19, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27993449/growth-and-final-height-of-children-with-gaucher-disease-a-15-year-follow-up-at-an-israeli-gaucher-center
#19
Espen Mendelsohn, Amos Meir, Aya Abrahamov, Deborah Elstein, Ari Zimran, Floris Levy-Khademi
BACKGROUND: It is held that enzyme replacement therapy (ERT) accelerates the growth rate in children with Gaucher disease, but its effect on final height has not been established with certainty. This study presents final heights of Gaucher patients followed up for 15years. METHODS: The study included 41 adults with non-neuronopathic Gaucher disease. The final height of the patients and age at puberty was compared to their mid-parental target height and to their siblings' heights...
December 9, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27989805/engineering-a-functional-1-deoxy-d-xylulose-5-phosphate-dxp-pathway-in-saccharomyces-cerevisiae
#20
James Kirby, Kevin L Dietzel, Gale Wichmann, Rossana Chan, Eugene Antipov, Nathan Moss, Edward E K Baidoo, Peter Jackson, Sara P Gaucher, Shayin Gottlieb, Jeremy LaBarge, Tina Mahatdejkul, Kristy M Hawkins, Sheela Muley, Jack D Newman, Pinghua Liu, Jay D Keasling, Lishan Zhao
Isoprenoids are used in many commercial applications and much work has gone into engineering microbial hosts for their production. Isoprenoids are produced either from acetyl-CoA via the mevalonate pathway or from pyruvate and glyceraldehyde 3-phosphate via the 1-deoxy-D-xylulose 5-phosphate (DXP) pathway. Saccharomyces cerevisiae exclusively utilizes the mevalonate pathway to synthesize native isoprenoids and in fact the alternative DXP pathway has never been found or successfully reconstructed in the eukaryotic cytosol...
October 27, 2016: Metabolic Engineering
keyword
keyword
3720
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"