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https://www.readbyqxmd.com/read/28801758/prkag2-mutations-presenting-in-infancy
#1
Rachel D Torok, Stephanie L Austin, Chanika Phornphutkul, Kathleen M Rotondo, Deeksha Bali, Gregory H Tatum, Stephanie B Wechsler, Anne F Buckley, Priya S Kishnani
PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations in PRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system disease, which is typically not diagnosed until adolescence or young adulthood. However, significant variability exists in the presentation and outcomes of patients with PRKAG2 mutations, with presentation in infancy being underrecognized. The diagnosis of PRKAG2 can be challenging in infants, and we describe our experience with three patients who were initially suspected to have Pompe disease yet ultimately diagnosed with mutations in PRKAG2...
August 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28763149/three-cases-of-multi-generational-pompe-disease-are-current-practices-missing-diagnostic-and-treatment-opportunities
#2
Paul McIntosh, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, Priya S Kishnani
Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28761815/a-pilot-study-on-using-rapamycin-carrying-synthetic-vaccine-particles-svp-in-conjunction-with-enzyme-replacement-therapy-to-induce-immune-tolerance-in-pompe-disease
#3
Han-Hyuk Lim, Haiqing Yi, Takashi K Kishimoto, Fengqin Gao, Baodong Sun, Priya S Kishnani
A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. In an effort to induce sustained immune tolerance to rhGAA, we supplemented the rhGAA therapy with a weekly intravenous injection of synthetic vaccine particles carrying rapamycin (SVP-Rapa) during the first 3 weeks of a 12-week course of ERT in GAA-KO mice, and compared this with three intraperitoneal injections of methotrexate (MTX) per week for the first 3 weeks...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28754168/improvement-of-bone-mineral-density-after-enzyme-replacement-therapy-in-chinese-late-onset-pompe-disease-patients
#4
Bun Sheng, Yim Pui Chu, Wa Tai Wong, Eric Kin Cheong Yau, Sammy Pak Lam Chen, Wing Hang Luk
OBJECTIVE: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients...
July 28, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28747428/sequence-exchange-between-r-genes-converts-virus-resistance-into-nematode-resistance-and-vice-versa
#5
Erik J Slootweg, Kamila Koropacka, Jan Roosien, Robert Dees, Hein Overmars, Rene Klein Lankhorst, Casper van Schaik, Rikus Pomp, Liesbeth Bouwman, Johannes Helder, Arjen Schots, Jaap Bakker, Geert Smant, Aska Goverse
Plants have evolved a limited repertoire of NB-LRR disease resistance (R) genes to protect themselves against a myriad of pathogens. This limitation is thought to be counterbalanced by the rapid evolution of NB-LRR proteins, as only few sequence changes have been shown to be sufficient to alter resistance specificities towards novel strains of a pathogen. However, little is known about the flexibility of NB-LRR genes to switch resistance specificities between phylogenetically unrelated pathogens. To investigate this, we created domain swaps between the close homologs Gpa2 and Rx1, which confer resistance in potato to the cyst nematode Globodera pallida and Potato virus X (PVX), respectively...
July 26, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28735900/treatment-with-enzyme-replacement-therapy-during-pregnancy-in-a-patient-with-pompe-disease
#6
Merete Holbeck-Brendel, Birgitte Klindt Poulsen
Pregnancy is in general physically demanding, even more so for women with hereditary muscular diseases (HMDs). With increasing numbers of women with HMD reaching reproductive age, there is a growing need for research into what impact pregnancy can have on their clinical condition. A 25-year-old woman was diagnosed with Pompe disease at the age of 22 and began enzyme replacement therapy (ERT) right away. At the age of 25 she became pregnant. ERT was paused during the first trimester and recommenced throughout the second and third trimesters...
July 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#7
Barbara K Burton, Joel Charrow, George E Hoganson, Darrell Waggoner, Brad Tinkle, Stephen R Braddock, Michael Schneider, Dorothy K Grange, Claudia Nash, Heather Shryock, Rebecca Barnett, Rong Shao, Khaja Basheeruddin, George Dizikes
OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. RESULTS: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p...
July 17, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28726123/rapidly-progressive-white-matter-involvement-in-early-childhood-the-expanding-phenotype-of-infantile-onset-pompe
#8
A Broomfield, J Fletcher, P Hensman, R Wright, H Prunty, J Pavaine, S A Jones
Glycogen accumulation in the central nervous system of patients with classical infantile onset Pompe disease (IOPD) has been a consistent finding on the few post-mortems performed. While delays in myelination and a possible reduction in processing speed have previously been noted, it has only been recently that the potential for clinically significant progressive white matter disease has been noted. The limited reports thus far published infer that in some IOPD patients, this manifests as intellectual decline in the second decade of life...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28725570/enzyme-activities-of-%C3%AE-glucosidase-in-japanese-neonates-with-pseudodeficiency-alleles
#9
Ryuichi Mashima, Torayuki Okuyama
Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical studies have suggested the enhanced efficacy of existing therapies, including enzyme replacement therapy, which is effective when it is initiated during the presymptomatic period. Thus, the identification of disease-affected individuals by newborn screening has been considered an effective platform...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28721335/investigation-of-newborns-with-abnormal-results-in-a-newborn-screening-program-for-four-lysosomal-storage-diseases-in-brazil
#10
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F M Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28716881/teaching-video-neuroimages-bent-spine-syndrome-as-an-early-presentation-of-late-onset-pompe-disease
#11
Francesca Magrinelli, Michele Tosi, Paola Tonin
No abstract text is available yet for this article.
July 18, 2017: Neurology
https://www.readbyqxmd.com/read/28707172/long-term-outcomes-of-laparoscopic-sleeve-gastrectomy-a-single-center-retrospective-study
#12
Piotr K Kowalewski, Robert Olszewski, Maciej S Walędziak, Michał R Janik, Andrzej Kwiatkowski, Natalia Gałązka-Świderek, Krzysztof Cichoń, Jakub Brągoszewski, Krzysztof Paśnik
INTRODUCTION: Sleeve gastrectomy (LSG) is one of the most popular bariatric procedures. We present our long-term results regarding weight loss, comorbidities, and gastric reflux disease. MATERIAL AND METHODS: We identified patients who underwent LSG in our institution between 2006 and 2009. We revised the data, and the patients with outdated contact details were tracked with the national health insurance database and social media (facebook). Each of the identified patients was asked to complete an online or telephone survey covering, among others, their weight and comorbidities...
July 13, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28700417/genetics-of-paediatric-cardiomyopathies
#13
Stephanie M Ware
PURPOSE OF REVIEW: Paediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the paediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy. RECENT FINDINGS: With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified at a rapid rate...
July 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28694071/first-clinical-and-genetic-description-of-a-family-diagnosed-with-late-onset-pompe-disease-from-costa-rica
#14
Gabriel Torrealba-Acosta, María Consuelo Rodríguez-Roblero, Sixto Bogantes-Ledezma, Kenneth Carazo-Céspedes, Claude Desnuelle
Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges...
June 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28658866/unusual-presentation-of-atypical-infantile-pompe-disease-in-the-newborn-period-with-left-ventricular-hypertrophy
#15
Sanjay Kumar, Amit Kumar
Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and creatine kinase 670 μg/L...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28657663/next-generation-deep-sequencing-corrects-diagnostic-pitfalls-of-traditional-molecular-approach-in-a-patient-with-prenatal-onset-of-pompe-disease
#16
Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, David M Koeller, Jing Wang, Lee-Jun C Wong
Pompe disease is a rare inherited metabolic disorder of glycogen metabolism caused by mutations in the GAA gene, encoding the acid α-1,4 glucosidase. Successful diagnosis of Pompe disease is achieved by clinical and biochemical evaluation followed by confirmation with DNA testing. Here, we report a male infant with a prenatal onset of cardiac symptoms and enzyme testing consistent with Pompe disease, but DNA testing by Sanger sequencing revealed no pathogenic variants. Due to the strong indication from clinical, enzymatic, and histological studies (despite the absence of molecular confirmation by traditional Sanger sequencing), enzyme replacement therapy (ERT) for Pompe disease was initiated...
June 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28648664/high-dose-ivig-successfully-reduces-high-rhgaa-igg-antibody-titers-in-a-crim-negative-infantile-pompe-disease-patient
#17
Mugdha Rairikar, Zoheb B Kazi, Ankit Desai, Crista Walters, Amy Rosenberg, Priya S Kishnani
Alglucosidase alfa (rhGAA) has altered the course of an otherwise fatal outcome in classic infantile Pompe disease (IPD), which presents with cardiomyopathy and severe musculoskeletal involvement. However, the response to therapy is determined by several factors including the development of high and sustained antibody titers (HSAT) to rhGAA. Cross-reactive immunologic material (CRIM) negative patients are at the highest risk for development of HSAT. Immune tolerance induction (ITI) with methotrexate, rituximab, and intravenous immunoglobulin (IVIG) has been largely successful in preventing the immune response and in achieving tolerance when done in conjunction with enzyme replacement therapy (ERT) initiation...
May 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28648663/effect-of-enzyme-replacement-therapy-with-alglucosidase-alfa-myozyme%C3%A2-in-12-patients-with-advanced-late-onset-pompe-disease
#18
Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt
BACKGROUND: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. METHODS: We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared...
June 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28647415/restrictive-arteriopathy-in-late-onset-pompe-disease-case-report-and-review-of-the-literature
#19
Konark Malhotra, David C Carrington, David S Liebeskind
Late-onset Pompe disease (LOPD) is an adult type of classical Pompe disease and presents without cardiomyopathy. Neuroimaging in LOPD is typically limited to posterior circulation and involves dilative arteriopathy, especially dolichoectasia and intracranial aneurysms. We report an interesting case of an established diagnosis of asymptomatic LOPD in a young man with a restrictive-variant pattern in posterior vasculature. We discuss the clinical presentation, neuroimaging, existing literature, and prognosis in vascular variants of LOPD...
June 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28629821/glycogen-reduction-in-myotubes-of-late-onset-pompe-disease-patients-using-antisense-technology
#20
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
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