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https://www.readbyqxmd.com/read/28634598/previously-unrecognized-behavioral-phenotype-in-gaucher-disease-type-3
#1
Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil
OBJECTIVE: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28607008/the-dipole-potential-correlates-with-lipid-raft-markers-in-the-plasma-membrane-of-living-cells
#2
Tamás Kovács, Gyula Batta, Florina Zákány, János Szöllősi, Peter Nagy
The dipole potential generating an electric field much stronger than any other type of membrane potential influences a wide array of phenomena ranging from passive permeation to voltage-dependent conformational changes of membrane proteins. It is generated by the ordered orientation of lipid carbonyl and membrane-attached water dipole moments. Theoretical considerations and indirect experimental evidence obtained in model membranes suggest that the dipole potential is larger in liquid-ordered domains believed to correspond to lipid rafts in cell membranes...
June 12, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28604984/choroidal-thickness-and-ametropia-in-children-a-longitudinal-study
#3
Marine Fontaine, David Gaucher, Arnaud Sauer, Claude Speeg-Schatz
PURPOSE: To determine the relationship of subfoveal choroidal thickness (ChT), refraction, and axial length in children, and evaluate the evolution of subfoveal ChT with time in myopic versus nonmyopic eyes. METHODS: A total of 229 eyes of 115 children aged 2 to 16 years were included in the study. Refraction under cycloplegia, axial length, and subfoveal ChT were measured at baseline with comparative investigations at 15 months follow-up. RESULTS: The probability for the subfoveal ChT to be thinner in myopic children compared to nonmyopic children was 0...
June 7, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28598856/glucocerebrosidase-mutations-in-parkinson-disease
#4
Grace O'Regan, Ruth-Mary deSouza, Roberta Balestrino, A H Schapira
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD. GBA mutations are now known to be the single largest risk factor for development of idiopathic PD. Clinically, on imaging and pharmacologically, GBA PD is almost identical to idiopathic PD. In patients with a known GBA mutation, it is possible to monitor for prodromal signs of PD...
June 7, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28596107/a-novel-function-for-glucocerebrosidase-as-a-regulator-of-sterylglucoside-metabolism
#5
REVIEW
Hisako Akiyama, Yoshio Hirabayashi
BACKGROUND: Sterols are major cell membrane lipids, and in many organisms they are modified with glucose to generate sterylglucosides. Glucosylation dramatically changes the functional properties of sterols. The formation of sterylglucosides from sterols in plants, fungi, and bacteria uses UDP-glucose as a glucose donor. By contrast, sterylglucoside biosynthesis in mammals is catalyzed by the transglucosylation activity of glucocerebrosidases, with glucosylceramide acting as the glucose donor...
June 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28593894/5th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-15th-2016
#6
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The fifth SEE meeting on rare diseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA) the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or the lack of it) on the brain, and further prospects of eventual gene treatment were comprehensively exposed and discussed. Special accent was on Gaucher, Morquio IVA, Hunter and the audience was given new knowledge on the complexities of diagnosis and treatment...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28592657/induced-pluripotent-stem-cell-models-of-lysosomal-storage-disorders
#7
REVIEW
Daniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28588124/antenatal-consultations-for-preterm-labour-how-are-future-mothers-reassured
#8
Nathalie Gaucher, Sophie Nadeau, Alexandre Barbier, Antoine Payot
OBJECTIVE: To evaluate whether the antenatal consultation for preterm labour worries or reassures women, and to identify factors contributing to these feelings. DESIGN: This is a prospective survey study from April 2012 to September 2013. This mixed-methodology tool was co-constructed with patients and first tested in a single-centre pilot study. SETTING: Three university-affiliated, tertiary care, high-risk obstetrics inpatient units in Quebec, Canada...
June 6, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28585220/inherited-arterial-calcification-syndromes-etiologies-and-treatment-concepts
#9
REVIEW
Yvonne Nitschke, Frank Rutsch
PURPOSE OF REVIEW: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease. RECENT FINDINGS: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC...
June 5, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28583274/benign-bone-conditions-that-may-be-fdg-avid-and-mimic-malignancy
#10
REVIEW
Thomas C Kwee, John M H de Klerk, Maarten Nix, Ben G F Heggelman, Stefan V Dubois, Hugo J A Adams
Positron emission tomography with the radiotracer (18)F-fluoro-2-deoxy-d-glucose (FDG) plays an important role in the evaluation of bone pathology. However, FDG is not a cancer-specific agent, and knowledge of the differential diagnosis of benign FDG-avid bone alterations that may resemble malignancy is important for correct patient management, including the avoidance of unnecessary additional invasive tests such as bone biopsy. This review summarizes and illustrates the spectrum of benign bone conditions that may be FDG-avid and mimic malignancy, including osteomyelitis, bone lesions due to benign systemic diseases (Brown tumor, Erdheim-Chester disease, Gaucher disease, gout and other types of arthritis, Langerhans cell histiocytosis, and sarcoidosis), benign primary bone lesions (bone cysts, chondroblastoma, chondromyxoid fibroma, desmoplastic fibroma, enchondroma, giant cell tumor and granuloma, hemangioma, nonossifying fibroma, and osteoid osteoma and osteoblastoma), and a group of miscellaneous benign bone conditions (post bone marrow biopsy or harvest status, bone marrow hyperplasia, fibrous dysplasia, fractures, osteonecrosis, Paget disease of bone, particle disease, and Schmorl nodes)...
July 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28580830/thrombocytopenia-and-gba-gene-mutation-in-a-patient-with-adult-type-1-gaucher-disease
#11
Lagen Wan, Hong Wu, Fuyuan Xie, Yijun Nie
A 38-year-old female patient was diagnosed with anemia for 3 years. Medical examination showed slight splenomegaly (250 × 62 mm), thrombocytopenia (platelets 51 × 10(9)/L), anemia (Hb levels 107 g/L), and β-glucocerebrosidase activity (GBA) in leukocytes was lower than normal. Microscopic findings of bone marrow smear demonstrated that Gaucher cells in bone marrow and periodic acid-Schiff staining of them were positive. Sequencing of GBA genomic and cDNA identified one novel homozygous mutation, c.484A> G (p...
June 5, 2017: Platelets
https://www.readbyqxmd.com/read/28574511/signalome-wide-rnai-screen-identifies-gba1-as-a-positive-mediator-of-autophagic-cell-death
#12
Santosh K Dasari, Shani Bialik, Smadar Levin-Zaidman, Vered Levin-Salomon, Alfred H Merrill, Anthony H Futerman, Adi Kimchi
Activating alternative cell death pathways, including autophagic cell death, is a promising direction to overcome the apoptosis resistance observed in various cancers. Yet, whether autophagy acts as a death mechanism by over consumption of intracellular components is still controversial and remains undefined at the ultrastructural and the mechanistic levels. Here we identified conditions under which resveratrol-treated A549 lung cancer cells die by a mechanism that fulfills the previous definition of autophagic cell death...
June 2, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28571484/sclerostin-deficiency-promotes-reparative-dentinogenesis
#13
A-M Collignon, N Amri, J Lesieur, J Sadoine, S Ribes, S Menashi, S Simon, A Berdal, G Y Rochefort, C Chaussain, C Gaucher
In humans, the SOST gene encodes sclerostin, an inhibitor of bone growth and remodeling, which also negatively regulates the bone repair process. Sclerostin has also been implicated in tooth formation, but its potential role in pulp healing remains unknown. The aim of this study was to explore the role of sclerostin in reparative dentinogenesis using Sost knockout mice ( Sost(-/-)). The pulps of the first maxillary molars were mechanically exposed in 3-mo-old Sost(-/-) and wild-type (WT) mice ( n = 14 mice per group), capped with mineral trioxide aggregate cement, and the cavities were filled with a bonded composite resin...
March 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28571145/morphological-changes-in-bone-marrow-post-imatinib-therapy-in-chronic-phase-cml-a-follow-up-study-on-sequential-bone-marrow-aspirates-and-biopsies
#14
Neha Chopra Narang, Usha Rusia, Meera Sikka, Mrinalini Kotru
INTRODUCTION: Imatinib mesylate is used extensively for first line treatment of Chronic Myeloid Leukemia (CML). However, not many studies have documented morphological changes in bone marrow biopsies produced during Imatinib therapy with reference to myelofibrosis. AIM: To document the morphological changes produced in the bone marrow during Imatinib therapy. MATERIALS AND METHODS: This longitudinal study followed up 75 Philadelphia Chromosome Positive Chronic Myeloid Leukemia with chronic phase(Ph+ CML- CP) patients sequentially, receiving 400-600mg Imatinib over a period of 12 or more months...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28569047/transformation-in-pre-treatment-manifestations-of-gaucher-disease-type-1-during-two-decades-of-alglucerase-imiglucerase-enzyme-replacement-therapy-in-the-international-collaborative-gaucher-group-icgg-registry
#15
Pramod K Mistry, Julie L Batista, Hans C Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Paige Kaplan, Aneal Khan, Priya S Kishnani, Edwin H Kolodny, Barry Rosenbloom, C Ronald Scott, Neal Weinreb
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients from the International Collaborative Gaucher Group Gaucher Registry were stratified by age at ERT initiation (<18, 18 to <50, ≥50 years), era of ERT initiation (1991-1995, 1996-2000, 2001-2005, 2006-2009), and splenectomy status pre-ERT...
May 31, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28567032/recurring-necrotic-enteritis-outbreaks-in-commercial-broiler-chicken-flocks-strongly-influence-toxin-gene-carriage-and-species-richness-in-the-resident-clostridium-perfringens-population
#16
Marie-Lou Gaucher, Gabriel G Perron, Julie Arsenault, Ann Letellier, Martine Boulianne, Sylvain Quessy
Extensive use of antibiotic growth promoters (AGPs) in food animals has been questioned due to the globally increasing problem of antibiotic resistance. For the poultry industry, digestive health management following AGP withdrawal in Europe has been a challenge, especially the control of necrotic enteritis. Much research work has focused on gut health in commercial broiler chicken husbandry. Understanding the behavior of Clostridium perfringens in its ecological niche, the poultry barn, is key to a sustainable and cost-effective production in the absence of AGPs...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28559130/cholangiocarcinoma-occurring-in-a-patient-with-type-1-gaucher-disease-treated-with-velaglucerase-alfa-enzyme-replacement-therapy-first-case-report
#17
Jan Holubar, Virginie Bres, Valérie Costes-Martineau, Yves-Marie Pers
No abstract text is available yet for this article.
May 24, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28546865/parkinson-disease-in-gaucher-disease
#18
Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio
BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that developed PD at different disease stages. CONCLUSION: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28538622/towards-precision-medicine-accurate-predictive-modeling-of-infectious-complications-in-combat-casualties
#19
Christopher J Dente, Matthew Bradley, Seth Schobel, Beverly Gaucher, Timothy Buchman, Allan D Kirk, Eric Elster
BACKGROUND: The biomarker profile of trauma patients may allow for the creation of models to assist bedside decision making & prediction of complications. We sought to determine the utility of modeling in the prediction of bacteremia & pneumonia in combat casualties. METHODS: This is a prospective, observational trial of patients with complex wounds treated at Walter Reed National Military Medical Center (2007-2012). Tissue, serum and wound effluent samples were collected during operative interventions until wound closure...
May 22, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28532942/robot-assisted-simulated-cataract-surgery
#20
Tristan Bourcier, Jimmy Chammas, Pierre-Henri Becmeur, Arnaud Sauer, David Gaucher, Philippe Liverneaux, Jacques Marescaux, Didier Mutter
PURPOSE: To evaluate the feasibility of robot-assisted simulated cataract surgery. SETTING: Institut de Recherche Contre les Cancers de l'Appareil Digestif, European Institute of Telesurgery, and Strasbourg University Hospital, Strasbourg, France. DESIGN: Experimental study. METHODS: Cataract surgeries were performed on a Kitaro cataract wet-lab training system simultaneously using the Da Vinci Xi robotic surgical system and the Whitestar Signature phacoemulsification system...
April 2017: Journal of Cataract and Refractive Surgery
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