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https://www.readbyqxmd.com/read/28814660/sustained-immune-tolerance-induction-in-enzyme-replacement-therapy-treated-crim-negative-patients-with-infantile-pompe-disease
#1
Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, R Bradley Troxler, Raymond Y Wang, Omar A Abdul-Rahman, Pranoot Tanpaiboon, Nancy J Mendelsohn, Eli Herskovitz, David Kronn, Michal Inbar-Feigenberg, Catherine Ward-Melver, Michelle Polan, Punita Gupta, Amy S Rosenberg, Priya S Kishnani
BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA IgG antibodies; however, safety, likelihood of success, and long-term efficacy of ITI in a larger cohort remain unknown...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28801758/prkag2-mutations-presenting-in-infancy
#2
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
#3
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
#4
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/28755960/hospitalization-before-surgery-and-subsequent-risk-of-infective-complications-after-radical-cystectomy-a-population-based-analysis
#5
Emanuele Zaffuto, Raisa Pompe, Helen Davis Bondarenko, Marco Moschini, Paolo Dell'Oglio, Giorgio Gandaglia, Nicola Fossati, Shahrokh F Shariat, Francesco Montorsi, Alberto Briganti, Pierre I Karakiewicz
INTRODUCTION: The length of stay prior to surgery increases the risk of postoperative infections (PIs) in several surgical settings, such as cardiac, orthopedic, and general surgery. However, data for urological oncology procedures are limited. We examined PI rates after radical cystectomy (RC) according to the length of stay prior to RC (LOSPRC). MATERIALS AND METHODS: A total of 24,242 patients with bladder cancer treated with RC between 1998 and 2013 were abstracted from the National Inpatients Sample database...
July 26, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28754168/improvement-of-bone-mineral-density-after-enzyme-replacement-therapy-in-chinese-late-onset-pompe-disease-patients
#6
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/28753847/incidence-risk-factors-management-and-complications-of-rectal-injuries-during-radical-prostatectomy
#7
Philipp Mandel, Anna Linnemannstöns, Felix Chun, Thorsten Schlomm, Raisa Pompe, Lars Budäus, Clemens Rosenbaum, Tim Ludwig, Roland Dahlem, Margit Fisch, Markus Graefen, Hartwig Huland, Derya Tilki, Thomas Steuber
Rectal injury (RI) during radical prostatectomy (RP) is a severe complication. So far, only limited data describing the incidence, risk factors, management, and complications of RI are available. In an analysis of data for 24178 patients, we identified 113/24076 patients (0.47%) undergoing open or robotic RP and 7/102 patients (6.86%) after salvage RP who experienced an RI. Besides salvage RP, local tumor stage, Gleason grade, lymph node status, and surgical experience, but not surgical approach (robotic vs open), could be identified as risk factors for RI in univariate and multivariate analysis...
February 7, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28747428/sequence-exchange-between-r-genes-converts-virus-resistance-into-nematode-resistance-and-vice-versa
#8
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
#9
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/28735048/emergence-of-different-acinetobacter-baumannii-clones-in-a-croatian-hospital-and-correlation-with-antibiotic-susceptibility
#10
Ranko Ladavac, Branka Bedenić, Mirna Vranić-Ladavac, Nada Barišić, Natalie Karčić, Karoline Pompe, Antun Ferenčić, Aleksandar Stojanović, Harald Seifert, Stjepan Katić, Paul G Higgins
OBJECTIVES: During routine diagnostic laboratory work, the clinical microbiologist observed an increase of Acinetobacter baumannii isolates with three different carbapenem susceptibility patterns: susceptible, intermediate and resistant. Isolates belonging to the same carbapenem susceptibility phenotype exhibited identical susceptibility/resistance patterns to non-β-lactam antibiotics. This prompted us to analyse the mechanisms of carbapenem-resistance and the molecular epidemiology of the isolates...
July 19, 2017: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/28728908/the-proteasome-maturation-protein-pomp-increases-proteasome-assembly-and-activity-in-psoriatic-lesional-skin
#11
Barbara A Zieba, Laurent Henry, Matthieu Lacroix, Mohamed Jemaà, Thierry Lavabre-Bertrand, Laurent Meunier, Olivier Coux, Pierre-Emmanuel Stoebner
BACKGROUND: The ubiquitin proteasome pathway is involved in the pathogenesis of psoriasis and proteasome subunits are increased in lesional psoriatic skin. Recent works have highlighted that proteasome levels can be regulated through modulation of proteasome assembly notably by the proteasome maturation protein POMP. OBJECTIVES: To investigate whether proteasome assembly and POMP expression are modified in psoriatic skin. METHODS: Proteasome assembly as well as expression of proteasome regulators were assessed in non-lesional and lesional psoriatic skin using native gel electrophoresis and western blots respectively...
April 30, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28728811/newborn-screening-for-lysosomal-storage-disorders-in-illinois-the-initial-15-month-experience
#12
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
#13
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
#14
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
#15
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/28720779/mimicking-paracrine-tgf%C3%AE-1-signals-during-myofibroblast-differentiation-in-3d-collagen-networks
#16
Michael Ansorge, Jiranuwat Sapudom, Marina Chkolnikov, Martin Wilde, Ulf Anderegg, Stephanie Möller, Matthias Schnabelrauch, Tilo Pompe
TGFβ1 is a key regulator for induction of tissue remodeling after dermal wounding. We present a model of paracrine delivery of TGFβ1 for differentiation of dermal fibroblasts based on a fibrillar 3D collagen matrix and embedded TGFβ1 releasing microparticles. We found differentiation into myofibroblasts was achieved in a TGFβ1 dependent manner at much lower doses than systemic delivery. This effect is accounted to the slow and sustained TGFβ1 release mimicking paracrine cell signals.
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28716881/teaching-video-neuroimages-bent-spine-syndrome-as-an-early-presentation-of-late-onset-pompe-disease
#17
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
#18
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
#19
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
#20
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
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