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Pompe disease

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https://www.readbyqxmd.com/read/29339806/tumor-characteristics-treatments-and-oncological-outcomes-of-prostate-cancer-in-men-aged-%C3%A2-50-years-a-population-based-study
#1
Raisa S Pompe, Ariane Smith, Marco Bandini, Michele Marchioni, Tristan Martel, Felix Preisser, Sami-Ramzi Leyh-Bannurah, Jonas Schiffmann, Fred Saad, Hartwig Huland, Markus Graefen, Shahrokh F Shariat, Derya Tilki, Pierre I Karakiewicz
BACKGROUND: To examine clinical characteristics, treatment modalities and oncological outcomes of prostate cancer (PCa) according to young (≤50) vs. old age. METHODS: Of 407,599 men with primary adenocarcinoma of the prostate within the Surveillance, Epidemiology and End Results (SEER)-database (2004 to 2013), 18,387 were aged ≤50 years (4.5%). Time trends, cumulative incidence, and competing risks regression (CRR) analyses tested for differences between young and old patients...
January 16, 2018: Prostate Cancer and Prostatic Diseases
https://www.readbyqxmd.com/read/29335242/effect-of-bariatric-surgery-on-ckd-risk
#2
Allon N Friedman, Abdus S Wahed, Junyao Wang, Anita P Courcoulas, Gregory Dakin, Marcelo W Hinojosa, Paul L Kimmel, James E Mitchell, Alfons Pomp, Walter J Pories, Jonathan Q Purnell, Carel le Roux, Konstantinos Spaniolas, Kristine J Steffen, Richard Thirlby, Bruce Wolfe
Obesity is linked to the development and progression of CKD, but whether bariatric surgery protects against CKD is poorly understood. We, therefore, examined whether bariatric surgery influences CKD risk. The study included 2144 adults who underwent bariatric surgery from March of 2006 to April of 2009 and participated in the Longitudinal Assessment of Bariatric Surgery-2 Study cohort. The primary outcome was CKD risk categories as assessed by the Kidney Disease Improving Global Outcomes (KDIGO) consortium criteria using a combination of eGFR and albuminuria...
January 15, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#3
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29318963/nanodiagnostics-and-nanodelivery-applications-in-genetic-alterations
#4
Maria Sofia Falzarano, Cristina Flesia, Roberta Cavalli, Caterina Guiot, Alessandra Ferlini
Background Genetic alterations cause hereditary diseases (HDs) with a wide range of incidences. Some, like cystic fibrosi, occur frequently (1/1,000 newborns), whilst others, such as Pompe disease and other metabolic disorders are very rare (1/100,000 newborns). They are well under the threshold of 1/3,000, denoted by the European Community as rare diseases (RDs). Genetic alterations are also associated with multifactorial disorders like diabetes, and underline both somatic and germline mutations in cancer...
January 10, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29315315/quantification-of-intramuscular-fat-in-patients-with-late-onset-pompe-disease-by-conventional-magnetic-resonance-imaging-for-the-long-term-follow-up-of-enzyme-replacement-therapy
#5
André Lollert, Clemens Stihl, Andreas M Hötker, Eugen Mengel, Jochem König, Katharina Laudemann, Seyfullah Gökce, Christoph Düber, Gundula Staatz
OBJECTIVE: The objective of this study was to evaluate a quantitative method based on conventional T1-weighted magnetic resonance (MR) imaging to assess fatty muscular degeneration in patients with late-onset Pompe disease and to compare it with semi-quantitative visual evaluation (the Mercuri score). In addition, a long-term retrospective data analysis was performed to evaluate treatment response to enzyme replacement therapy with alglucosidase alfa. METHODS: MR images of the lumbar spine were acquired in 41 patients diagnosed with late-onset Pompe disease from 2006 through 2015...
2018: PloS One
https://www.readbyqxmd.com/read/29295737/immunomodulatory-liver-depot-gene-therapy-for-pompe-disease
#6
J E Bond, P S Kishnani, D D Koeberl
Pompe disease is caused by mutations in acid alpha glucosidase (GAA) that causes accumulation of lysosomal glycogen affecting the heart and skeletal muscles, and can be fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) improves muscle function by reducing glycogen accumulation. Limitations of ERT include a short half-life and the formation of antibodies that result in reduced efficacy. By harnessing the immune tolerance induction properties of the liver, liver-targeted gene delivery (with an adeno-associated virus vector containing a liver specific promoter), suppresses immunity against the GAA introduced by gene therapy...
December 29, 2017: Cellular Immunology
https://www.readbyqxmd.com/read/29290222/efficient-therapy-of-pompe-disease-by-an-acid-%C3%AE-glucosidase-conjugate
#7
EDITORIAL
Kinam Park
No abstract text is available yet for this article.
January 10, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29289479/enzyme-replacement-therapy-with-alglucosidase-alfa-in-pompe-disease-clinical-experience-with-rate-escalation
#8
Ankit K Desai, Crista K Walters, Heidi L Cope, Zoheb B Kazi, Stephanie M DeArmey, Priya S Kishnani
Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3h 45min for a patient receiving the standard dose of 20mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6h 36min...
December 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29286471/in-vitro-enzyme-measurement-to-test-pharmacological-chaperone-responsiveness-in-fabry-and-pompe-disease
#9
Jan Lukas, Anne-Marie Knospe, Susanne Seemann, Valentina Citro, Maria V Cubellis, Arndt Rolfs
The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2 to 3 different clinical types according to severity. Moreover, molecular characterization of the genotype can help predict clinical outcomes and inform patient care. Therefore, we developed a simple cell culture assay based on HEK293H cells heterologously over-expressing the mutations identified in Fabry and Pompe disease...
December 20, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29279960/quantitative-trait-mapping-in-diversity-outbred-mice-identifies-two-genomic-regions-associated-with-heart-size
#10
John R Shorter, Wei Huang, Ju Youn Beak, Kunjie Hua, Daniel M Gatti, Fernando Pardo-Manuel de Villena, Daniel Pomp, Brian C Jensen
Heart size is an important factor in cardiac health and disease. In particular, increased heart weight is predictive of adverse cardiovascular outcomes in multiple large community-based studies. We use two cohorts of Diversity Outbred (DO) mice to investigate the role of genetics, sex, age, and diet on heart size. DO mice (n = 289) of both sexes from generation 10 were fed a standard chow diet, and analyzed at 12-15 weeks of age. Another cohort of female DO mice (n = 258) from generation 11 were fed either a high-fat, cholesterol-containing (HFC) diet or a low-fat, high-protein diet, and analyzed at 24-25 weeks...
December 26, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29274340/four-unreported-types-of-glycans-containing-mannose-6-phosphate-are-heterogeneously-attached-at-three-sites-including-newly-found-asn-233-to-recombinant-human-acid-alpha-glucosidase-that-is-the-only-approved-treatment-for-pompe-disease
#11
Heajin Park, Jihye Kim, Young Kwang Lee, Wooseok Kim, Seung Kwan You, Jonghye Do, Yeonjoo Jang, Doo-Byung Oh, Jae Il Kim, Ha Hyung Kim
Myozyme is a recombinant human acid alpha-glucosidase (rhGAA) that is currently the only drug approved for treating Pompe disease, and its low efficacy means that a high dose is required. Mannose-6-phosphate (M6P) glycosylation on rhGAA is a key factor influencing lysosomal enzyme targeting and the efficacy of enzyme replacement therapy (ERT); however, its complex structure and relatively small quantity still remain to be characterized. This study investigated M6P glycosylation on rhGAA using liquid chromatography (LC)-electrospray ionization (ESI)-high-energy collisional dissociation (HCD) tandem mass spectrometry (MS/MS)...
December 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29249183/aav-gene-delivery-to-the-spinal-cord-serotypes-methods-candidate-diseases-and-clinical-trials
#12
Nathan Hardcastle, Nicholas M Boulis, Thais Federici
Adeno-associated viral (AAV) vector-mediated gene delivery to the spinal cord has finally entered the pathway towards regulatory approval. Phase 1 clinical trials using AAV gene therapy for pediatric disorders - spinal muscular atrophy (SMA) and giant axonal neuropathy (GAN) - are now underway. Areas covered: This review addresses the latest progress in the field of AAV gene delivery to the spinal cord, particularly focusing on the most prominent AAV serotypes and delivery methodologies to the spinal cord. Candidate diseases and scaling up experiments in large animals are also discussed...
December 18, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29244696/selective-spinal-fusion-for-neuromuscular-scoliosis-in-a-patient-with-pompe-disease-a-case-report-and-review-of-the-literature
#13
Atsushi Tanida, Shinji Tanishima, Tokumitsu Mihara, Aya Narita, Yoshihiro Maegaki, Hideki Nagashima
CASE: A 16-year-old girl with Pompe disease underwent surgery for scoliosis. She had been able to walk without any assistance, and kept her balance by swinging her waist. Therefore, we performed posterior selective spinal correction and fusion to avoid any adverse effects on walking ability that could occur with immobilization of the lumbosacral spine. After surgery, she was highly satisfied with her ability to perform the activities of daily living. CONCLUSION: For nonambulatory patients with scoliosis and Pompe disease, long fusion from the upper thoracic spine to the pelvis is generally required...
January 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29237491/cost-effectiveness-of-enzyme-replacement-therapy-with-alglucosidase-alfa-in-adult-patients-with-pompe-disease
#14
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
#15
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/29223985/external-validation-of-generic-and-cancer-specific-risk-stratification-tools-in-patients-with-pulmonary-embolism-and-active-cancer
#16
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
#17
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/29187643/rescue-of-pompe-disease-in-mice-by-aav-mediated-liver-delivery-of-secretable-acid-%C3%AE-glucosidase
#18
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/29181627/pompe-disease-in-austria-clinical-genetic-and-epidemiological-aspects
#19
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/29166883/the-humanistic-burden-of-pompe-disease-are-there-still-unmet-needs-a-systematic-review
#20
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
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