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Pompe disease

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https://www.readbyqxmd.com/read/28102630/enzyme-therapy-for-hypertrophic-cardiomyopathy-in-non-classical-pompe-disease-effectiveness-of-treatment
#1
Jiyoung Kim, Hyemin Kim, Lucy Youngmin Eun
No abstract text is available yet for this article.
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#2
Alexander V Skurat, Dyann Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
January 10, 2017: Glycobiology
https://www.readbyqxmd.com/read/28045567/disruption-of-the-gaa-gene-in-zebrafish-fails-to-generate-the-phenotype-of-classical-pompe-disease
#3
Jing Wu, Yi Yang, Chengjun Sun, Shaoyang Sun, Qiang Li, Yuxiao Yao, Fei Fei, Lingeng Lu, Zhuo Chang, Wenting Zhang, Xu Wang, Feihong Luo
The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. The presence of a Δ13 frameshift mutation in the gaa gene was confirmed at both the DNA and transcribed mRNA levels by Sanger sequencing...
January 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28039015/longitudinal-follow-up-to-evaluate-speech-disorders-in-early-treated-patients-with-infantile-onset-pompe-disease
#4
Yin-Ting Zeng, Wuh-Liang Hwu, Pao-Chuan Torng, Ni-Chung Lee, Jeng-Yi Shieh, Lu Lu, Yin-Hsiu Chien
BACKGROUND: Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. METHODS: Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28032299/new-mutations-and-genotype-phenotype-correlation-in-late-onset-pompe-patients
#5
Can Ebru Bekircan-Kurt, Hafize Nalan Güneş, F Gokcem Yildiz, Esen Saka, Ersin Tan, Sevim Erdem-Özdamar
Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two...
December 28, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28029334/patient-reported-outcomes-in-rare-lysosomal-storage-diseases-key-informant-interviews-and-a-systematic-review-protocol
#6
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/28000772/improved-detection-of-circulating-tumor-cells-in-non-metastatic-high-risk-prostate-cancer-patients
#7
Andra Kuske, Tobias M Gorges, Pierre Tennstedt, Anne-Kathrin Tiebel, Raisa Pompe, Felix Preißer, Sandra Prues, Martine Mazel, Athina Markou, Evi Lianidou, Sven Peine, Catherine Alix-Panabières, Sabine Riethdorf, Burkhard Beyer, Thorsten Schlomm, Klaus Pantel
The relevance of blood-based assays to monitor minimal residual disease (MRD) in non-metastatic prostate cancer (PCa) remains unclear. Proving that clinically relevant circulating tumor cells (CTCs) can be detected with available technologies could address this. This study aimed to improve CTC detection in non-metastatic PCa patients by combining three independent CTC assays: the CellSearch system, an in vivo CellCollector and the EPISPOT. Peripheral blood samples from high-risk PCa patients were screened for CTCs before and three months after radical prostatectomy (RP)...
December 21, 2016: Scientific Reports
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
#8
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
#9
Anne Schänzer, Ann-Kathrin Kaiser, Christian Mühlfeld, Martin Kulessa, Werner Paulus, Harald von Pein, Marianne Rohrbach, Lara Viergutz, Eugen Mengel, Thorsten Marquardt, Bernd 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
#10
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
#11
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
#12
(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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
Thomas J Conlon, Cathryn S Mah, Christina A Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, C Chang I 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...
December 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27854216/therapeutic-potential-of-tricyclo-dna-antisense-oligonucleotides
#19
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
#20
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
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