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Pompe disease

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https://www.readbyqxmd.com/read/28424361/computed-tomographic-findings-in-subjects-who-died-from-respiratory-disease-in-the-national-lung-screening-trial
#1
Esther Pompe, Pim A de Jong, David A Lynch, Nikolas Lessmann, Ivana Išgum, Bram van Ginneken, Jan-Willem J Lammers, Firdaus A A Mohamed Hoesein
We evaluated the prevalence of significant lung abnormalities on computed tomography (CT) in patients who died from a respiratory illness other than lung cancer in the National Lung Screening Trial (NLST).In this retrospective case-control study, NLST participants in the CT arm who died of respiratory illness other than lung cancer were matched for age, sex, pack-years and smoking status to a surviving control. A chest radiologist and a radiology resident blinded to the outcome independently scored baseline CT scans visually and qualitatively for the presence of emphysema, airway wall thickening and fibrotic lung disease...
April 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28394184/clinical-and-molecular-characterization-of-infantile-onset-pompe-disease-in-mainland-chinese-patients-identification-of-two-common-mutations
#2
Xi Chen, Tingliang Liu, Meirong Huang, Jinjin Wu, Junxue Zhu, Ying Guo, Xinyi Xu, Fen Li, Jian Wang, Lijun Fu
AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1...
April 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28380188/respiratory-manifestations-in-late-onset-pompe-disease-a-case-series-conducted-in-brazil
#3
Bruna de Souza Sixel, Luanda Dias da Silva, Nicolette Celani Cavalcanti, Glória Maria Cardoso de Andrade Penque, Sandra Lisboa, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena
Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability...
January 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/28363873/production-of-recombinant-human-acid-%C3%AE-glucosidase-with-high-mannose-glycans-in-gnt1-rice-for-the-treatment-of-pompe-disease
#4
Jae-Wan Jung, Nguyen-Xuan Huy, Hyo-Boon Kim, Nan-Sun Kim, Do Van Giap, Moon-Sik Yang
Lysosomal storage diseases are a group of inherited metabolic disorders. Patients are treated with enzyme replacement therapy (ERT), in which the replacement enzymes are required to carry terminal mannose or mannose 6-phosphate residues to allow efficient uptake into target cells and tissues. N-acetylglucosaminyltransferase-I (GnTI) mediates N-glycosylation in the cis cisternae of the Golgi apparatus by adding N-acetylglucosamine to the exposed terminal mannose residue of core N-glycan structures for further processing...
March 29, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28344998/low-dose-liver-targeted-gene-therapy-for-pompe-disease-enhances-therapeutic-efficacy-of-ert-via-immune-tolerance-induction
#5
Sang-Oh Han, Giuseppe Ronzitti, Benjamin Arnson, Christian Leborgne, Songtao Li, Federico Mingozzi, Dwight Koeberl
Pompe disease results from acid α-glucosidase (GAA) deficiency, and enzyme replacement therapy (ERT) with recombinant human (rh) GAA has clinical benefits, although its limitations include the short half-life of GAA and the formation of antibody responses. The present study compared the efficacy of ERT against gene transfer with an adeno-associated viral (AAV) vector containing a liver-specific promoter. GAA knockout (KO) mice were administered either a weekly injection of rhGAA (20 mg/kg) or a single injection of AAV2/8-LSPhGAA (8 × 10(11) vector genomes [vg]/kg)...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28341561/duvoglustat-hcl-increases-systemic-and-tissue-exposure-of-active-acid-%C3%AE-glucosidase-in-pompe-patients-co-administered-with-alglucosidase-%C3%AE
#6
Priya Kishnani, Mark Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki, Mazen M Dimachkie, Erika Finanger, Ozlem Goker-Alpan, Karl A Guter, Tahseen Mozaffar, Muhammad Ali Pervaiz, Pascal Laforet, Todd Levine, Matthews Adera, Richard Lazauskas, Sheela Sitaraman, Richie Khanna, Elfrida Benjamin, Jessie Feng, John J Flanagan, Jay Barth, Carrolee Barlow, David J Lockhart, Kenneth J Valenzano, Pol Boudes, Franklin K Johnson, Barry Byrne
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle...
March 21, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28336814/airway-smooth-muscle-dysfunction-in-pompe-gaa-mice
#7
Allison M Keeler, Donghai Liu, Marina Zieger, Lang Xiong, Jeffrey Salemi, Karl Bellve, Barry J Byrne, David D Fuller, Ronghua ZhuGe, Mai K ElMallah
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA) - an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, motor neurons and smooth muscle. Skeletal muscle and motor neuron pathology are known to contribute to respiratory insufficiency in Pompe disease, but the role of airway pathology has not been evaluated. Here we propose that GAA enzyme deficiency disrupts the function of the trachea and bronchi, and this lower airway pathology contributes to respiratory insufficiency in Pompe disease...
March 23, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28316933/letter-to-the-editors-concerning-divergent-clinical-outcomes-of-alphaglucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state-by-takashi-m-et-al
#8
Rita Ortolano, Federico Baronio, Riccardo Masetti, Arcangelo Prete, Alessandra Cassio, Andrea Pession
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#9
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#10
REVIEW
J Finsterer, J Wanschitz, S Quasthoff, S Iglseder, W Löscher, W Grisold
OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances...
March 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28282939/oral-health-status-of-patients-with-lysosomal-storage-diseases-in-poland
#11
Damian Drążewski, Małgorzata Grzymisławska, Katarzyna Korybalska, Natasza Czepulis, Marian Grzymisławski, Janusz Witowski, Anna Surdacka
Patients with lysosomal storage diseases (LSDs) suffer from physical and mental disabilities, which together with poor access to professional care may lead to impaired oral health. This cross-sectional case-control study characterized the status of oral health in patients with LSDs in Poland. Thirty-six children and young adults with various forms of LSDs were examined. The data were compared with those from age- and sex-matched healthy controls. Exemplary cases were presented to highlight typical problems in oral care associated with LSDs...
March 9, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28266734/cardiac-response-to-enzyme-replacement-therapy-in-infantile-pompe-disease-with-severe-hypertrophic-cardiomyopathy
#12
Sravani Avula, Thuylinh M Nguyen, Michael Marble, Christian Lilje
Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of the disease. Decrease in ventricular hypertrophy and improvement in ventricular function have been suggested as proof for efficacy. We report the cardiac response to ERT of a child with IOPD and severe hypertrophic cardiomyopathy. The myocardial hypertrophy resolved. Change in ejection fraction, however, was slow...
March 7, 2017: Echocardiography
https://www.readbyqxmd.com/read/28265479/clinical-analysis-of-algerian-patients-with-pompe-disease
#13
Y Sifi, M Medjroubi, R Froissart, N Taghane, K Sifi, A Benhabiles, S Lemai, S Semra, H Benmekhebi, Z Bouderda, N Abadi, A Hamri
Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure...
2017: Journal of Neurodegenerative Diseases
https://www.readbyqxmd.com/read/28258649/the-cardiac-manifestations-of-inherited-metabolic-diseases-in-children
#14
REVIEW
David F A Lloyd, Roshni Vara, Sujeev Mathur
Inborn errors of metabolism (IEMs) are responsible for around 5% of all cases of cardiomyopathy (CM) and 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic cardiomyopathy, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEMs such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis (EFE) and left ventricular non-compaction...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28251514/human-induced-pluripotent-stem-cell-based-modeling-of-cardiac-storage-disorders
#15
REVIEW
Bradley C Nelson, Sherin I Hashem, Eric D Adler
PURPOSE OF REVIEW: The aim of this study is to review the published human-induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) models of cardiac storage disorders and to evaluate the limitations and future applications of this technology. RECENT FINDINGS: Several cardiac storage disorders (CSDs) have been modeled using patient-specific hiPSC-CMs, including Anderson-Fabry disease, Danon disease, and Pompe disease. These models have shown that patient-specific hiPSC-CMs faithfully recapitulate key phenotypic features of CSDs and respond predictably to pharmacologic manipulation...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28249362/effects-of-lysosomal-biotherapeutic-recombinant-protein-expression-on-cell-stress-and-protease-and-general-host-cell-protein-release-in-chinese-hamster-ovary-cells
#16
Damiano Migani, C Mark Smales, Daniel G Bracewell
Recombinant human Acid Alpha Glucosidase (GAA) is the therapeutic enzyme used for the treatment of Pompe disease, a rare genetic disorder characterized by GAA deficiency in the cell lysosomes (Raben et al., Curr Mol Med. 2002; 2:145-166). The manufacturing process for GAA can be challenging, in part due to protease degradation. The overall goal of this study was to understand the effects of GAA overexpression on cell lysosomal phenotype and host cell protein (HCP) release, and any resultant consequences for protease levels and ease of manufacture...
March 1, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28196920/liquid-chromatography-tandem-mass-spectrometry-assay-of-leukocyte-acid-%C3%AE-glucosidase-for-post-newborn-screening-evaluation-of-pompe-disease
#17
Na Lin, Jingyu Huang, Sara Violante, Joseph J Orsini, Michele Caggana, Erin E Hughes, Colleen Stevens, Lisa DiAntonio, Hsuan Chieh Liao, Xinying Hong, Farideh Ghomashchi, Arun Babu Kumar, Hui Zhou, Ruth Kornreich, Melissa Wasserstein, Michael H Gelb, Chunli Yu
BACKGROUND: Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset form (LOPD) with variable onset and progressive weakness and respiratory failure. Because the prognosis and treatment options are different for IOPD and LOPD, it is important to accurately determine an individual's phenotype...
April 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28185884/the-emerging-phenotype-of-late-onset-pompe-disease-a-systematic-literature-review
#18
REVIEW
Justin Chan, Ankit K Desai, Zoheb B Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D Hobson-Webb, Laura E Case, Harrison N Jones, Priya S Kishnani
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. PURPOSE: To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28181274/hereditary-myopathies-with-early-respiratory-insufficiency-in-adults
#19
Elie Naddaf, Margherita Milone
INTRODUCTION: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. METHODS: We reviewed the clinical and laboratory data of patients with hereditary myopathies that demonstrated early respiratory insufficiency prior to the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28170191/metabolomic-profiling-of-pompe-disease-induced-pluripotent-stem-cell-derived-cardiomyocytes-reveals-that-oxidative-stress-is-associated-with-cardiac-and-skeletal-muscle-pathology
#20
Yohei Sato, Hiroshi Kobayashi, Takashi Higuchi, Yohta Shimada, Hiroyuki Ida, Toya Ohashi
Pompe disease (PD) is a lysosomal storage disease that is caused by a deficiency of the acid α-glucosidase, which results in glycogen accumulation in the lysosome. The major clinical symptoms of PD include skeletal muscle weakness, respiratory failure, and cardiac hypertrophy. Based on its severity and symptom onset, PD is classified into infantile and late-onset forms. Lysosomal accumulation of glycogen can promote many types of cellular dysfunction, such as autophagic dysfunction, endoplasmic reticulum stress, and abnormal calcium signaling within skeletal muscle...
January 2017: Stem Cells Translational Medicine
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