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Pompe disease

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https://www.readbyqxmd.com/read/27931223/pattern-and-prognostic-value-of-cardiac-involvement-in-patients-with-late-onset-pompe-disease-a-comprehensive-cardiovascular-magnetic-resonance-approach
#1
Matthias Boentert, Anca Florian, Bianca Dräger, Peter Young, Ali Yilmaz
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified...
December 7, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27927596/quantification-of-muscle-pathology-in-infantile-pompe-disease
#2
Anne Schänzer, Ann-Kathrin Kaiser, Christian Mühlfeld, Martin Kulessa, Werner Paulus, Harald von Plein, Marianne Rohrbach, Lara Viergutz, Eugen Mengel, Thorsten Marquardt, Bern Neubauer, Till Acker, Andreas Hahn
The effects of enzyme replacement therapy (ERT) in infantile Pompe disease are variable, necessitating the identification of biomarkers to assess the severity of disease and response to ERT. The aims of this study were to investigate whether quantification of muscle pathology in infantile Pompe disease prior to and during ERT is feasible at the light microscope, and to develop a score that summarizes the degree of muscle pathology in a comprehensive manner from PAS-stained resin sections alone. We, therefore, determined glycogen load, extent of muscle fibre disruption, and amount of autophagic vacuoles in resin-embedded muscle biopsy specimens from 11 infantile Pompe patients and 2 with early childhood phenotype by quantitative methods, correlated the findings with ultrastructural analyses, compared PAS-stained resin sections with conventional PAS-stained cryosections, and related the quantified degree of muscle damage from infantile patients to the effects of ERT...
November 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27924211/circulating-mir-126-and-mir-499-reflect-progression-of-cardiovascular-disease-correlations-with-uric-acid-and-ejection-fraction
#3
Masoud Khanaghaei, Fereshtah Tourkianvalashani, Seyedhossein Hekmatimoghaddam, Nasrin Ghasemi, Mahdi Rahaie, Vahid Khorramshahi, Akhtar Sheikhpour, Zahra Heydari, Fatemeh Pourrajab
BACKGROUND: The aim of this study was to assess plasma levels of endothelium- and heart-associated microRNAs (miRNAs) miR-126 and miR-499, respectively, using quantitative reverse transcriptase polymerase chain reaction. METHODS: A two-step analysis was conducted on 75 patients undergoing off-pomp coronary artery bypass graft (CABG) surgery. Five biomarkers of inflammation and cardiac injury were assessed in addition to the above-mentioned miRNAs. RESULTS: Plasma concentrations of miRNAs were found to be significantly correlated with plasma levels of cardiac troponin I (cTnI) (miR-499, r 0...
January 2016: Heart International
https://www.readbyqxmd.com/read/27905293/long-term-exercise-in-mice-has-sex-dependent-benefits-on-body-composition-and-metabolism-during-aging
#4
Rachel C McMullan, Scott A Kelly, Kunjie Hua, Brian K Buckley, James E Faber, Fernando Pardo-Manuel de Villena, Daniel Pomp
Aging is associated with declining exercise and unhealthy changes in body composition. Exercise ameliorates certain adverse age-related physiological changes and protects against many chronic diseases. Despite these benefits, willingness to exercise and physiological responses to exercise vary widely, and long-term exercise and its benefits are difficult and costly to measure in humans. Furthermore, physiological effects of aging in humans are confounded with changes in lifestyle and environment. We used C57BL/6J mice to examine long-term patterns of exercise during aging and its physiological effects in a well-controlled environment...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27898093/corrigendum-to-from-cryptic-toward-canonical-pre-mrna-splicing-in-pompe-disease-a-pipeline-for-the-development-of-antisense-oligonucleotides
#5
(no author information available yet)
No abstract text is available yet for this article.
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#6
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27887941/functional-outcomes-and-quality-of-life-after-radical-prostatectomy-only-versus-a-combination-of-prostatectomy-with-radiation-and-hormonal-therapy
#7
Meike Adam, Pierre Tennstedt, Dominik Lanwehr, Derya Tilki, Thomas Steuber, Burkhard Beyer, Imke Thederan, Hans Heinzer, Alexander Haese, Georg Salomon, Lars Budäus, Uwe Michl, Dirk Pehrke, Pär Stattin, Jürgen Bernard, Bernd Klaus, Raisa S Pompe, Cordula Petersen, Hartwig Huland, Markus Graefen, Rudolf Schwarz, Wolfgang Huber, Stacy Loeb, Thorsten Schlomm
BACKGROUND: While the optimal use and timing of secondary therapy after radical prostatectomy (RP) remain controversial, there are limited data on patient-reported outcomes following multimodal therapy. OBJECTIVE: To assess the impact of additional radiation therapy (RT) and/or androgen deprivation therapy (ADT) on urinary continence, potency, and quality of life (QoL) after RP. DESIGN, SETTING, AND PARTICIPANTS: Among 13150 men who underwent RP from 1992 to 2013, 905 received RP + RT, 407 RP + ADT and 688 RP + RT + ADT...
November 22, 2016: European Urology
https://www.readbyqxmd.com/read/27862019/bent-spine-syndrome-as-the-initial-symptom-of-late-onset-pompe-disease
#8
Nicolas Taisne, Claude Desnuelle, Raul Juntas Morales, Xavier Ferrer Monasterio, Sabrina Sacconi, Fanny Duval, Guilhem Sole, René Marc Flipo, Arnaud Lacour, Patrick Vermersch, Thierry Cardon
INTRODUCTION: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. METHODS: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. RESULTS: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years)...
November 15, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27861229/what-s-in-the-literature
#9
Nicholas J Silvestri, Gil I Wolfe, David Lacomis
In this edition, we focus on neuromuscular junction disorders and myopathy. The newly published international consensus guidelines for the management of myasthenia gravis are reviewed. In addition, various emerging treatment options for myasthenia, including the use of methotrexate, rituximab, subcutaneous immunoglobulin, and thymectomy, are discussed. Recent studies examining the clinical and genetic features of several forms of congenital myasthenia gravis are also highlighted. The clinical features and treatment of late-onset Pompe disease are reviewed, as are studies in facioscapulohumeral dystrophy, idiopathic inflammatory myopathies, and calpainopathy...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27856936/reveglucosidase-alfa-bmn-701-an-igf-2-tagged-rhacid-%C3%AE-glucosidase-improves-respiratory-functional-parameters-in-a-murine-model-of-pompe-disease
#10
Jeff Peng, Jill Dalton, Mark Butt, Kristin Tracy, Derek Kennedy, Peter Haroldsen, Rhea Cahayag, Stephen Zoog, Charles A O'Neill, Laurie Tsuruda
Pompe disease is a rare neuromuscular disorder caused by an acid α-glucosidase (GAA) deficiency resulting in glycogen accumulation in muscle, leading to myopathy and respiratory weakness. Reveglucosidase alfa (BMN 701), is an insulin-like growth factor 2 (IGF2) tagged rhGAA that enhances rhGAA cellular uptake via a glycosylation independent IGF2-binding region of the cation-independent mannose-6-phosphate receptor (CI-MPR). These studies evaluated the effects of reveglucosidase alfa treatment on glycogen clearance in muscle relative to rhGAA as well as changes in respiratory function and glycogen clearance in respiratory related tissue in a Pompe mouse model (GAA(tm1Rabn))...
November 16, 2016: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#11
Thomas J Conlon, Cathryn S Mah, Christina A R Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, Charles C Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa-/- mice resulted in high-level transduction of the diaphragm...
November 17, 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27854216/therapeutic-potential-of-tricyclo-dna-antisense-oligonucleotides
#12
Aurelie Goyenvalle, Christian Leumann, Luis Garcia
Oligonucleotide therapeutics hold great promise for the treatment of various diseases and the antisense field is constantly gaining interest due to the development of more potent and nuclease resistant chemistries. Despite a rather low success rate with only three antisense drugs being clinically approved, the frontiers of AON therapeutic applications have increased over the past three decades and continue to expand thanks to a steady increase in understanding the mechanisms of action of these molecules, progress in chemical modification and delivery...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27845393/quantitative-analysis-of-upright-standing-in-adults-with-late-onset-pompe-disease
#13
Maria Stella Valle, Antonino Casabona, Agata Fiumara, Dora Castiglione, Giovanni Sorge, Matteo Cioni
Pompe disease is a rare disorder producing muscle weakness and progressive impairments in performing daily motor activities, such as walking and standing. Most studies have focused on dysfunctions at cellular level, restricting the examination of gross motor functions to qualitative or subjective rating scales evaluations. With the aim of providing an instrumented quantification of upright standing in Pompe disease, we used a force platform to measure the center of pressure over three foot positions and with eyes open and closed...
November 15, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27812025/long-term-exposure-to-myozyme-results-in-a-decrease-of-anti-drug-antibodies-in-late-onset-pompe-disease-patients
#14
Elisa Masat, Pascal Laforêt, Marie De Antonio, Guillaume Corre, Barbara Perniconi, Nadjib Taouagh, Kuberaka Mariampillai, Damien Amelin, Wladimir Mauhin, Jean-Yves Hogrel, Catherine Caillaud, Giuseppe Ronzitti, Francesco Puzzo, Klaudia Kuranda, Pasqualina Colella, Roberto Mallone, Olivier Benveniste, Federico Mingozzi
Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed...
November 4, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27778204/rates-and-predictors-of-endoscopic-and-clinical-recurrence-after-primary-ileocolic-resection-for-crohn-s-disease
#15
Kyle Joshua Fortinsky, David Kevans, Judy Qiang, Wei Xu, Felipe Bellolio, Hillary Steinhart, Raquel Milgrom, Gordon Greenberg, Zane Cohen, Helen Macrae, Joanne Stempak, Robin McLeod, Mark S Silverberg
BACKGROUND AND AIMS: The utility of postoperative medical prophylaxis (POMP) and the treatment of mild endoscopic recurrence remain controversial. METHODS: This study is a retrospective review of patients undergoing a primary ileocolic resection for CD at a single academic center. Endoscopic recurrence (ER) was defined using the Rutgeerts score (RS), and clinical recurrence (CR) was defined as symptoms of CD with endoscopic or radiologic evidence of neo-terminal ileal disease...
October 24, 2016: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/27774736/design-of-potent-mannose-6-phosphate-analogues-for-the-functionalization-of-lysosomal-enzymes-to-improve-the-treatment-of-pompe-disease
#16
Khaled El Cheikh, Ilaria Basile, Afitz Da Silva, Coralie Bernon, Pierre Cérutti, Frédéric Salgues, Marc Perez, Marie Maynadier, Magali Gary-Bobo, Catherine Caillaud, Martine Cérutti, Marcel Garcia, Alain Morère
Improving therapeutics delivery in enzyme replacement therapy (ERT) for lysosomal storage disorders is a challenge. Herein, we present the synthesis of novel analogues of mannose 6-phosphate (M6P), known as AMFAs and functionalized at the anomeric position for enzyme grafting. AMFAs are non-phosphate serum-resistant derivatives that efficiently bind the cation-independent mannose 6-phosphate receptor (CI-M6PR), which is the main pathway to address enzymes to lysosomes. One of the AMFAs was used to improve the treatment of the lysosomal myopathy Pompe disease, in which acid α-glucosidase (GAA) is defective...
November 14, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27765823/not-only-bright-tongue-sign-in-pompe-disease
#17
José C Milisenda, Teresa Pujol, Josep M Grau
No abstract text is available yet for this article.
October 11, 2016: Neurology
https://www.readbyqxmd.com/read/27764522/combination-of-acid-phosphatase-positivity-and-rimmed-vacuoles-as-useful-markers-in-the-diagnosis-of-adult-onset-pompe-disease-lacking-specific-clinical-and-pathological-features
#18
C Dolfus, J-P Simon, G Landemore, F Leroy, F Chapon
INTRODUCTION: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. MATERIAL AND METHODS: We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27763517/practical-recommendations-for-diagnosis-and-management-of-respiratory-muscle-weakness-in-late-onset-pompe-disease
#19
Matthias Boentert, Hélène Prigent, Katalin Várdi, Harrison N Jones, Uwe Mellies, Anita K Simonds, Stephan Wenninger, Emilia Barrot Cortés, Marco Confalonieri
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness...
October 17, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27711114/muscle-mri-findings-in-childhood-adult-onset-pompe-disease-correlate-with-muscle-function
#20
Sebastián Figueroa-Bonaparte, Sonia Segovia, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa, Aída Alejaldre, Mercè Mayos, Guillermo Suárez-Cuartín, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera
OBJECTIVES: Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. METHODS: We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire)...
2016: PloS One
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