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Sahin Erdol, Mehmet Ture, Birol Baytan, Tahsin Yakut, Halil Saglam
There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, to date, to our knowledge, the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has never been investigated among patients with HLH. Here, we report on a patient who was referred to our institution for a differential diagnosis of pancytopenia, liver failure, and rhabdomyolysis...
November 2016: Journal of Pediatric Hematology/oncology
Luba Nalysnyk, Philip Rotella, Jason C Simeone, Alaa Hamed, Neal Weinreb
OBJECTIVES: The objectives of this research were: (1) to heighten awareness of Gaucher disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of organ involvement and disease severity, to clinicians most likely to encounter these patients, and; (2) to summarize the published evidence on GD epidemiology which is essential to accurately depict the total societal burden of this rare worldwide disorder. METHODS: A comprehensive literature review was undertaken to summarize the published evidence on the epidemiology of GD...
October 20, 2016: Hematology (Amsterdam, Netherlands)
Zi-Xing Ye, Xiang Gao, Qiang Qu, Xin Ye, Xiao-Dong He
No abstract text is available yet for this article.
2016: Chinese Medical Journal
Guillaume Soudier, Alain Gaudric, Vincent Gualino, Pascale Massin, Mathieu Nardin, Ramin Tadayoni, Claude Speeg-Schatz, David Gaucher
BACKGROUND AND OBJECTIVE: Dome-shaped macula (DSM) has recently been described with myopic staphyloma, which may cause decreased vision. The purpose of this study was to evaluate the choroidal thickness of eyes with and eyes without DSM. METHODS: A total of 26 eyes with DSM were paired based on axial length with 26 eyes without DSM. All patients underwent spectral-domain OCT examination using the 7-line EDI (enhanced depth imaging) protocol. The mean choroidal thickness was measured using Early Treatment Diabetic Retinopathy Study (ETDRS) grid areas...
October 14, 2016: Ophthalmologica. Journal International D'ophtalmologie
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Monika Dyczko, Anna Grzywa-Celińska, Wojciech Barud, Rafał Celiński, Wojciech Dworzański, Katarzyna Szmygin-Milanowska, Jerzy Mosiewicz
: Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms. AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease...
July 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Rebecca Pleat, Timothy M Cox, T Andrew Burrow, Pilar Giraldo, Ozlem Goker-Alpan, Barry E Rosenbloom, Laura R Croal, Lisa H Underhill, Sebastiaan J M Gaemers, M Judith Peterschmitt
Gaucher disease type 1 is an autosomal recessive disorder caused by deficient activity of the lysosomal enzyme acid β-glucosidase resulting in accumulation of glucosylceramide and clinical manifestations of anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. The historic standard of care is intravenous recombinant enzyme therapy with imiglucerase. Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 who have a compatible CYP2D6-metabolizer phenotype (≈ 95% of patients)...
December 2016: Molecular Genetics and Metabolism Reports
Marija Kocic, Slavisa M Djuricic, Maja Djordjevic, Djordje Savic, Bozica Kecman, Adrijan Sarajlija
Almost any anatomical compartment may be involved in Gaucher disease (GD). Abdominal lymphadenopathy occurred during enzyme replacement therapy in more than a dozen children with GD so far. A fourteen-year-old boy from Serbia developed clinical signs of acute appendicitis six years after the onset of GD type 3 related abdominal lymphadenopathy. Ultrasound examination showed diffuse thickening of the intestinal wall in the ileocoecal region with periappendicular infiltration. An appendectomy was performed four months after conservative treatment with antibiotics...
September 30, 2016: Blood Cells, Molecules & Diseases
Ganqiang Liu, Brendon Boot, Joseph J Locascio, Iris E Jansen, Sophie Winder-Rhodes, Shirley Eberly, Alexis Elbaz, Alexis Brice, Bernard Ravina, Jacobus J van Hilten, Florence Cormier-Dequaire, Jean-Christophe Corvol, Roger A Barker, Peter Heutink, Johan Marinus, Caroline H Williams-Gray, Clemens R Scherzer
OBJECTIVE: We hypothesized that mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes will be associated with aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, while mutations associated with non-neuropathic GD will confer intermediate progression rates. METHODS: 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median 4.1) from seven cohorts were analyzed...
September 22, 2016: Annals of Neurology
Masahiro Kimura, Satoshi Wakita, Kotarou Ishikawa, Kazutaka Sekine, Satoshi Yoshikawa, Akira Sato, Kazuaki Okawa, Akinori Kashimura, Masayoshi Sakaguchi, Yasusato Sugahara, Daisuke Yamanaka, Naohito Ohno, Peter O Bauer, Fumitaka Oyama
Chitotriosidase (Chit1) is an enzyme associated with various diseases, including Gaucher disease, chronic obstructive pulmonary disease, Alzheimer disease and cystic fibrosis. In this study, we first expressed mouse mature Chit1 fused with V5 and (His)6 tags at the C-terminus (Chit1-V5-His) in the cytoplasm of Escherichia coli and found that most of the expressed protein was insoluble. In contrast, Chit1 tagged with Protein A at the N-terminus and V5-His at the C-terminus, was expressed in the periplasmic space of E...
2016: PloS One
Shinichiro Yoshida, Jun Kido, Shirou Matsumoto, Ken Momosaki, Hiroshi Mitsubuchi, Tomoyuki Shimazu, Keishin Sugawara, Fumio Endo, Kimitoshi Nakamura
In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Philip M Zakas, Harrison C Brown, Kristopher Knight, Shannon L Meeks, H Trent Spencer, Eric A Gaucher, Christopher B Doering
Optimization of a protein's pharmaceutical properties is usually carried out by rational design and/or directed evolution. Here we test an alternative approach based on ancestral sequence reconstruction. Using available genomic sequence data on coagulation factor VIII and predictive models of molecular evolution, we engineer protein variants with improved activity, stability, and biosynthesis potential and reduced inhibition by anti-drug antibodies. In principle, this approach can be applied to any protein drug based on a conserved gene sequence...
September 26, 2016: Nature Biotechnology
Eva-Maria Kuech, Graham Brogden, Hassan Y Naim
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes...
September 21, 2016: Biochimie
Safa Ouerghemmi, Stéphanie Degoutin, Nicolas Tabary, Frédéric Cazaux, Mickaël Maton, Valérie Gaucher, Ludovic Janus, Christel Neut, Feng Chai, Nicolas Blanchemain, Bernard Martel
This work focuses on the relevance of antibacterial nanofibers based on a polyelectrolyte complex formed between positively charged chitosan (CHT) and an anionic hydroxypropyl betacyclodextrin (CD)-citric acid polymer (PCD) complexing triclosan (TCL). The study of PCD/TCL inclusion complex and its release in dynamic conditions, a cytocompatibility study, and finally the antibacterial activity assessment were studied. The fibers were obtained by electrospinning a solution containing chitosan mixed with PCD/TCL inclusion complex...
September 21, 2016: International Journal of Pharmaceutics
Victoria Mallett, Jay P Ross, Roy N Alcalay, Amirthagowri Ambalavanan, Ellen Sidransky, Patrick A Dion, Guy A Rouleau, Ziv Gan-Or
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder...
October 2016: Neurology. Genetics
Gertjan Kramer, Wouter Wegdam, Wilma Donker-Koopman, Roelof Ottenhoff, Paulo Gaspar, Marri Verhoek, Jessica Nelson, Tanit Gabriel, Wouter Kallemeijn, Rolf G Boot, Jon D Laman, Johannes P C Vissers, Timothy Cox, Elena Pavlova, Mary Teresa Moran, Johannes M Aerts, Marco van Eijk
Gaucher disease is caused by inherited deficiency of lysosomal glucocerebrosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB). Plasma gpNMB was also elevated, correlating with chitotriosidase and CCL18, which are established markers for human Gaucher cells. In Gaucher mice, gpNMB is also produced by Gaucher cells. Correction of glucocerebrosidase deficiency in mice by gene transfer or pharmacological substrate reduction reverses gpNMB abnormalities...
September 2016: FEBS Open Bio
Michael S Marshall, Ernesto R Bongarzone
New insights into the pathophysiological mechanisms behind late-onset neurodegenerative diseases have come from unexpected sources in recent years. Specifically, the group of inherited metabolic disorders known as lysosomal storage diseases that most commonly affect infants has been found to have surprising similarities with adult neurodegenerative disorders. Most notable has been the identification of Gaucher's disease as a comorbidity for Parkinson's disease. Prompted by the recent identification of neuronal aggregates of α-synuclein in another lysosomal storage disease, Krabbe's disease, we propose the idea that a similar connection exists between adult synucleinopathies and Krabbe's...
November 2016: Journal of Neuroscience Research
Scott A Sands, Steven M LeVine
Krabbe's disease (KD) is a lysosomal storage disorder in which galactosylceramide, a major glycosphingolipid of myelin, and psychosine (galactose-sphingosine) cannot be adequately metabolized because of a deficiency in galactosylceramidase. Substrate reduction therapy (SRT) has been tested in preclinical studies. The premise of SRT is to reduce the synthesis of substrates that are not adequately digested so that the substrate burden is lowered, resulting in less accumulation of unmetabolized material. SRT is used for Gaucher's disease, in which inhibitors of the terminal biosynthetic step are used...
November 2016: Journal of Neuroscience Research
Asmaa M Zahran, Azza A Eltayeb, Khalid I Elsayh, Khaled Saad, Faisal-Alkhateeb Ahmad, Ahmad I M Ibrahim
Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Gaucher disease is associated with remarkable alterations in the immune system, and GD patients are more susceptible to infections and are at a higher risk of developing autoimmune disorders and malignancies. In a case-control study, we used three-color flow cytometric immunophenotyping for determination of the frequency of lymphocyte subpopulations and activated T lymphocytes among 18 children with GD1 under enzyme replacement therapy managed in Assiut University Hospitals...
September 16, 2016: Archivum Immunologiae et Therapiae Experimentalis
Ryan N Randall, Caelan E Radford, Kelsey A Roof, Divya K Natarajan, Eric A Gaucher
Ancestral sequence reconstruction (ASR) is a still-burgeoning method that has revealed many key mechanisms of molecular evolution. One criticism of the approach is an inability to validate its algorithms within a biological context as opposed to a computer simulation. Here we build an experimental phylogeny using the gene of a single red fluorescent protein to address this criticism. The evolved phylogeny consists of 19 operational taxonomic units (leaves) and 17 ancestral bifurcations (nodes) that display a wide variety of fluorescent phenotypes...
2016: Nature Communications
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