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https://www.readbyqxmd.com/read/29237491/cost-effectiveness-of-enzyme-replacement-therapy-with-alglucosidase-alfa-in-adult-patients-with-pompe-disease
#1
Tim A Kanters, Ans T van der Ploeg, Michelle E Kruijshaar, Dimitris Rizopoulos, W Ken Redekop, Maureen P M H Rutten-van Mӧlken, Leona Hakkaart-van Roijen
BACKGROUND: Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigates the cost-effectiveness of ERT compared to supportive treatment in adult patients with Pompe disease. METHODS: Survival probabilities were estimated from an international observational dataset (n = 283) using a time-dependent Cox model...
December 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29236832/abnormal-tongue-features-as-a-clinical-clue-for-late-onset-pompe-s-disease
#2
Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29227997/normalized-emphysema-scores-on-low-dose-ct-validation-as-an-imaging-biomarker-for-mortality
#3
Leticia Gallardo-Estrella, Esther Pompe, Pim A de Jong, Colin Jacobs, Eva M van Rikxoort, Mathias Prokop, Clara I Sánchez, Bram van Ginneken
The purpose of this study is to develop a computed tomography (CT) biomarker of emphysema that is robust across reconstruction settings, and evaluate its ability to predict mortality in patients at high risk for lung cancer. Data included baseline CT scans acquired between August 2002 and April 2004 from 1737 deceased subjects and 5740 surviving controls taken from the National Lung Screening Trial. Emphysema scores were computed in the original scans (origES) and after applying resampling, normalization and bullae analysis (normES)...
2017: PloS One
https://www.readbyqxmd.com/read/29223985/external-validation-of-generic-and-cancer-specific-risk-stratification-tools-in-patients-with-pulmonary-embolism-and-active-cancer
#4
Erin R Weeda, Jonathan T Caranfa, Simon B Zeichner, Craig I Coleman, Elaine Nguyen, Christine G Kohn
Background: Numerous risk stratification tools exist to predict early post-pulmonary embolism (PE) mortality; however, few were specifically designed for use in patients with cancer. This study sought to evaluate the performance of 3 cancer-specific (RIETE, POMPE-C, and Font criteria) and 3 generic (Hestia, Pulmonary Embolism Severity Index [PESI], and Geneva prognostic score [GPS]) risk stratification tools for predicting 30-day post-PE mortality in patients with active cancer. Methods: We identified consecutive, adult, objectively confirmed patients with PE and active cancer presenting to our institution from November 2010 to January 2014...
December 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29215735/vacuolated-pas-positive-lymphocytes-as-an-hallmark-of-pompe-disease-and-other-myopathies-related-to-impaired-autophagy
#5
Angelo Pascarella, Chiara Terracciano, Olimpia Farina, Luca Lombardi, Teresa Esposito, Filomena Napolitano, Giuseppina Franzese, Giovanni Panella, Francesco Tuccillo, Giancarlo la Marca, Sergio Bernardini, Silvia Boffo, Antonio Giordano, Mariarosa Anna Beatrice Melone, Giuseppe Di Iorio, Simone Sampaolo
Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid-α-glucosidase (GAA) gene. Deficiency of GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac and skeletal muscles, but also in lymphocytes. Since an effective therapy is available, a rapid, sensitive and specific test is crucial to early identify affected subjects. Number of lymphocytes containing PAS-positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or muscle weakness, 13 genetically confirmed late-onset-Pompe-disease (LOPD) and 13 of their offspring...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29214306/seven-year-weight-trajectories-and-health-outcomes-in-the-longitudinal-assessment-of-bariatric-surgery-labs-study
#6
Anita P Courcoulas, Wendy C King, Steven H Belle, Paul Berk, David R Flum, Luis Garcia, William Gourash, Mary Horlick, James E Mitchell, Alfons Pomp, Walter J Pories, Jonathan Q Purnell, Ashima Singh, Konstantinos Spaniolas, Richard Thirlby, Bruce M Wolfe, Susan Z Yanovski
Importance: More information is needed about the durability of weight loss and health improvements after bariatric surgical procedures. Objective: To examine long-term weight change and health status following Roux-en-Y gastric bypass (RYGB) and laparoscopic adjustable gastric banding (LAGB). Design, Setting, and Participants: The Longitudinal Assessment of Bariatric Surgery (LABS) study is a multicenter observational cohort study at 10 US hospitals in 6 geographically diverse clinical centers...
December 6, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/29208553/fibril-growth-kinetics-link-buffer-conditions-and-topology-of-3d-collagen-i-networks
#7
Liv Kalbitzer, Tilo Pompe
Three-dimensional fibrillar networks reconstituted from collagen I are widely used as biomimetic scaffolds for in vitro and in vivo cell studies. Various physicochemical parameters of buffer conditions for in vitro fibril formation are well known, including pH-value, ion concentrations and temperature. However, there is a lack of a detailed understanding of reconstituting well-defined 3D network topologies, which is required to mimic specific properties of the native extracellular matrix. We screened a wide range of relevant physicochemical buffer conditions and characterized the topology of the reconstituted 3D networks in terms of mean pore size and fibril diameter...
December 2, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/29208512/interobserver-variability-in-the-delineation-of-the-primary-lung-cancer-and-lymph-nodes-on-different-four-dimensional-computed-tomography-reconstructions
#8
Susan Mercieca, José S A Belderbos, Katrien De Jaeger, Dominic A X Schinagl, Noëlle van der Voort Van Zijp, Jacqueline Pomp, Jacqueline Theuws, Jonathan Khalifa, Paul van de Vaart, Marcel van Herk
PURPOSE: The study compared interobserver variation in the delineation of the primary tumour (GTVp) and lymph nodes (GTVln) between three different 4DCT reconstruction types; Maximum Intensity Projection (MIP), Mid-Ventilation (Mid-V) and Mid-Position (Mid-P). MATERIAL AND METHODS: Seven radiation oncologists delineated the GTVp and GTVln on the MIP, Mid-V and Mid-P 4DCT image reconstructions of 10 lung cancer patients. The volumes, the mean standard deviation (SD) and distribution of SD (SD/area) over the median surface contour were compared for different tumour regions...
December 2, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29187643/rescue-of-pompe-disease-in-mice-by-aav-mediated-liver-delivery-of-secretable-acid-%C3%AE-glucosidase
#9
Francesco Puzzo, Pasqualina Colella, Maria G Biferi, Deeksha Bali, Nicole K Paulk, Patrice Vidal, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Romain Hardet, Christian Leborgne, Amine Meliani, Mathilde Cohen-Tannoudji, Stephanie Astord, Bernard Gjata, Pauline Sellier, Laetitia van Wittenberghe, Alban Vignaud, Florence Boisgerault, Martine Barkats, Pascal Laforet, Mark A Kay, Dwight D Koeberl, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen accumulation in nervous tissue and skeletal muscle. Using bioinformatics analysis and protein engineering, we developed transgenes encoding GAA that could be expressed and secreted by hepatocytes...
November 29, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29184803/complications-after-salvage-radical-prostatectomy-vesicourethral-anastomosis-leaks-and-possible-prevention
#10
EDITORIAL
Raisa S Pompe, Derya Tilki
No abstract text is available yet for this article.
October 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/29181627/pompe-disease-in-austria-clinical-genetic-and-epidemiological-aspects
#11
W N Löscher, M Huemer, T M Stulnig, P Simschitz, S Iglseder, C Eggers, H Moser, D Möslinger, M Freilinger, F Lagler, S Grinzinger, M Reichhardt, R E Bittner, W M Schmidt, U Lex, M Brunner-Krainz, S Quasthoff, J V Wanschitz
In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24 families, 4 IOPD and 21 LOPD with a resulting prevalence of 1:350,914. The most frequent clinical manifestation in LOPD was a lower limb-girdle phenotype combined with axial weakness...
November 27, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29177426/the-neutrons-for-science-facility-at-spiral-2
#12
X Ledoux, M Aïche, M Avrigeanu, V Avrigeanu, E Balanzat, B Ban-d'Etat, G Ban, E Bauge, G Bélier, P Bém, C Borcea, T Caillaud, A Chatillon, S Czajkowski, P Dessagne, D Doré, U Fischer, M O Frégeau, J Grinyer, S Guillous, F Gunsing, C Gustavsson, G Henning, B Jacquot, K Jansson, B Jurado, M Kerveno, A Klix, O Landoas, F R Lecolley, J L Lecouey, M Majerle, N Marie, T Materna, J Mrázek, J Novák, S Oberstedt, A Oberstedt, S Panebianco, L Perrot, A J M Plompen, S Pomp, A V Prokofiev, J M Ramillon, F Farget, D Ridikas, B Rossé, O Serot, S P Simakov, E Šimecková, M Stanoiu, M Štefánik, J C Sublet, J Taïeb, D Tarrío, L Tassan-Got, I Thfoin, C Varignon
The neutrons for science (NFS) facility is a component of SPIRAL-2, the new superconducting linear accelerator built at GANIL in Caen (France). The proton and deuteron beams delivered by the accelerator will allow producing intense neutron fields in the 100 keV-40 MeV energy range. Continuous and quasi-mono-kinetic energy spectra, respectively, will be available at NFS, produced by the interaction of a deuteron beam on a thick Be converter and by the 7Li(p,n) reaction on thin converter. The pulsed neutron beam, with a flux up to two orders of magnitude higher than those of other existing time-of-flight facilities, will open new opportunities of experiments in fundamental research as well as in nuclear data measurements...
November 21, 2017: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/29166883/the-humanistic-burden-of-pompe-disease-are-there-still-unmet-needs-a-systematic-review
#13
Benedikt Schoser, Deborah A Bilder, David Dimmock, Digant Gupta, Emma S James, Suyash Prasad
BACKGROUND: Humanistic burden considers the impact of an illness on a patient's health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain...
November 22, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29166322/biological-genetic-regulation-of-physical-activity-level-consensus-from-genbiopac
#14
J Timothy Lightfoot, Eco J C De Geus, Frank W Booth, Molly S Bray, Marcel den Hoed, Jaakko Kaprio, Scott A Kelly, Daniel Pomp, Michael C Saul, Martine A Thomis, Theodore Garland, Claude Bouchard
PURPOSE: Physical activity unquestionably maintains and improves health; however, physical activity levels globally are low and not rising despite all the resources devoted to this goal. Attention in both the research literature and the public policy domain has focused on social-behavioral factors; however, a growing body of literature suggests that biological determinants play a significant role in regulating physical activity levels. For instance, physical activity level, measured in various manners, has a genetic component in both humans and non-human animal models...
November 20, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29162676/the-role-of-genetic-counseling-in-pompe-disease-after-patients-are-identified-through-newborn-screening
#15
Andrea M Atherton, Debra Day-Salvatore
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162675/management-of-confirmed-newborn-screened-patients-with-pompe-disease-across-the-disease-spectrum
#16
David F Kronn, Debra Day-Salvatore, Wuh-Liang Hwu, Simon A Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J Swoboda, Priya S Kishnani
After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease, ERT should start as soon as possible. Once started, regular, routine follow-up is necessary to monitor for treatment effects, disease progression, and adverse effects. Decision-making for when or if to start ERT in late-onset Pompe disease (LOPD) is more challenging because patients typically have no measurable signs or symptoms or predictable time of symptom onset at NBS...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162674/the-initial-evaluation-of-patients-after-positive-newborn-screening-recommended-algorithms-leading-to-a-confirmed-diagnosis-of-pompe-disease
#17
Barbara K Burton, David F Kronn, Wuh-Liang Hwu, Priya S Kishnani
Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a diagnosis of Pompe disease. This article in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" guidance supplement provides recommendations for confirmatory testing after a positive NBS result indicative of Pompe disease is obtained. Two algorithms were developed by the Pompe Disease Newborn Screening Working Group, a group of international experts on both NBS and Pompe disease, based on whether DNA sequencing is performed as part of the screening method...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162673/newborn-screening-for-pompe-disease
#18
Olaf A Bodamer, C Ronald Scott, Roberto Giugliani
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good candidate for NBS. Because decisions regarding which diseases should be included in NBS panels are made regionally and locally, programs and efforts for NBS for Pompe disease have been inconsistent both in the United States and globally...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29162672/introduction-to-the-newborn-screening-diagnosis-and-treatment-for-pompe-disease-guidance-supplement
#19
Priya S Kishnani, Wuh-Liang Hwu
No abstract text is available yet for this article.
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29160099/safety-of-intradiaphragmatic-delivery-of-adeno-associated-virus-mediated-alpha-glucosidase-raav1-cmv-hgaa-gene-therapy-in-children-affected-by-pompe-disease
#20
Manuela Corti, Cristina Liberati, Barbara K Smith, Lee Ann Lawson, Ibrahim S Tuna, Thomas J Conlon, Kirsten E Erger, Saleem Islam, Roland Herzog, David D Fuller, Shelley Collins, Barry J Byrne
We conducted a first in human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory and neural dysfunction in early-onset Pompe disease. The primary objective of this study was to assess the safety of rAAV1-CMV-hGAA vector delivered to the diaphragm muscle of Pompe disease subjects with ventilatory insufficiency. Safety was assessed by measurement of change in serum chemistries and hematology, urinalysis, and immune response to GAA and AAV as well as change in level of health. Our data demonstrate that the AAV treatment was safe and there were no adverse events related to the study agent...
November 21, 2017: Human Gene Therapy. Clinical Development
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