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Pompe disease

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https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#1
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#2
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29129756/assessment-of-oncological-outcomes-after-radical-prostatectomy-according-to-preoperative-and-postoperative-cancer-of-the-prostate-risk-assessment-scores-results-from-a-large-two-center-experience
#3
Sami-Ramzi Leyh-Bannurah, Paolo Dell'Oglio, Emanuele Zaffuto, Alberto Briganti, Jonas Schiffmann, Raisa S Pompe, Derya Tilki, Hans Heinzer, Markus Graefen, Pierre I Karakiewicz, Lars Budäus
BACKGROUND: Among prostate cancer (PCa) patients undergoing radical prostatectomy (RP) and with virtually identical unfavorable pathological characteristics, those deemed at low risk (LR) preoperatively had better oncological outcomes than those with intermediate (IR) or high risk (HR) preoperatively. OBJECTIVE: To examine if this phenomenon still applies when preoperative Cancer of the Prostate Risk Assessment (CAPRA) scores are compared to postoperative scores (CAPRA-S) in RP patients...
November 9, 2017: European Urology Focus
https://www.readbyqxmd.com/read/29124014/a-molecular-analysis-of-the-gaa-gene-and-clinical-spectrum-in-38-patients-with-pompe-disease-in-japan
#4
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 sequence variants of the GAA gene have been published in the Pompe Disease Mutation Database, and some mutations appear with considerable frequency in particular ethnic groups, such as Caucasians, Taiwanese, Chinese, and Koreans. However, the GAA mutation pattern in Japanese patients remains poorly understood...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29122469/sensitivity-of-whole-exome-sequencing-in-detecting-infantile-and-late-onset-pompe-disease
#5
Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M DeArmey, Jennifer L Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T Cirulli, Priya S Kishnani
Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replacement therapy hinges on early diagnosis, which is challenging in late-onset form of the disease due to non-specific presentation. Next-generation sequencing-based panels effectively facilitate diagnosis, but the sensitivity of whole-exome sequencing (WES) in detecting pathogenic GAA variants remains unknown...
October 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29120458/precision-newborn-screening-for-lysosomal-disorders
#6
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Stephanie L Nett, Jason S Eckerman, Jean M Lacey, Coleman T Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29118420/aav-mediated-transcription-factor-eb-tfeb-gene-delivery-ameliorates-muscle-pathology-and-function-in-the-murine-model-of-pompe-disease
#7
Francesca Gatto, Barbara Rossi, Antonietta Tarallo, Elena Polishchuk, Roman Polishchuk, Alessandra Carrella, Edoardo Nusco, Filomena Grazia Alvino, Francesca Iacobellis, Elvira De Leonibus, Alberto Auricchio, Graciana Diez-Roux, Andrea Ballabio, Giancarlo Parenti
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy. We previously showed that modulation of autophagy and lysosomal exocytosis by overexpression of the transcription factor EB (TFEB) gene was effective in improving muscle pathology in PD mice injected intramuscularly with an AAV-TFEB vector. Here we have evaluated the effects of TFEB systemic delivery on muscle pathology and on functional performance, a primary measure of efficacy in a disorder like PD...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29117951/long-term-benefit-of-enzyme-replacement-therapy-in-pompe-disease-a-5-year-prospective-study
#8
Esther Kuperus, Michelle E Kruijshaar, Stephan C A Wens, Juna M de Vries, Marein M Favejee, Jan C van der Meijden, Dimitris Rizopoulos, Esther Brusse, Pieter A van Doorn, Ans T van der Ploeg, Nadine A M E van der Beek
OBJECTIVE: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease. METHODS: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT...
November 8, 2017: Neurology
https://www.readbyqxmd.com/read/29112434/n-butyl-l-deoxynojirimycin-l-nbdnj-synthesis-of-an-allosteric-enhancer-of-%C3%AE-glucosidase-activity-for-the-treatment-of-pompe-disease
#9
Daniele D'Alonzo, Maria De Fenza, Caterina Porto, Roberta Iacono, Mylene Huebecker, Beatrice Cobucci-Ponzano, David Priestman, Frances M Platt, Giancarlo Parenti, Marco Moracci, Giovanni Palumbo, Annalisa Guaragna
The highly stereocontrolled de novo synthesis of L-NBDNJ (the unnatural enantiomer of the iminosugar drug Miglustat) and a preliminary evaluation of its chaperoning potential are herein reported. L-NBDNJ is able to enhance lysosomal α-glucosidase levels in Pompe disease fibroblasts, either when administered singularly or when co-incubated with the recombinant human α-glucosidase. In addition, differently from its D-enantiomer, L-NBDNJ does not act as a glycosidase inhibitor.
November 7, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29108866/efficient-therapy-for-refractory-pompe-disease-by-mannose-6-phosphate-analogue-grafting-on-acid-%C3%AE-glucosidase
#10
Ilaria Basile, Afitz Da Silva, Khaled El Cheikh, Anastasia Godefroy, Morgane Daurat, Alice Harmois, Marc Perez, Catherine Caillaud, Henry-Vincent Charbonné, Bernard Pau, Magali Gary-Bobo, Alain Morère, Marcel Garcia, Marie Maynadier
Pompe disease is a rare disorder due to deficiency of the acid α-glucosidase (GAA) treated by enzyme replacement therapy. The present authorized treatment with rhGAA, the recombinant human enzyme, provides an important benefit in the infantile onset; however, the juvenile and adult forms of the disease corresponding to >80% of the patients are less responsive to this treatment. This resistance has been mainly attributed to an insufficiency of mannose 6-phosphate residues in rhGAA to address lysosomes through the cation-independent mannose 6-phosphate receptor (CI-M6PR)...
November 3, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29102549/lipidic-nanoparticles-comprising-of-phosphatidylinositol-mitigate-immunogenicity-and-improve-efficacy-of-recombinant-human-acid-alpha-glucosidase-in-a-murine-model-of-pompe-disease
#11
Jennifer L Schneider, Robert K Dingman, Sathy V Balu-Iyer
Enzyme replacement therapy with recombinant human acid α-glucosidase (rhGAA) is complicated by the formation of anti-rhGAA antibodies, a short circulating half-life, instability in the plasma, and limited uptake into target tissue. Previously, we have demonstrated that phosphatidylinositol (PI) containing liposomes can reduce the immunogenicity and extend plasma survival of Factor VIII (FVIII) in a mouse model of Hemophilia A. In this manuscript we investigate the ability of PI liposomes to be used as a delivery vehicle to overcome the issues that complicate therapy with rhGAA...
November 1, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29095812/moonlighting-newborn-screening-markers-the-incidental-discovery-of-a-second-tier-test-for-pompe-disease
#12
Silvia Tortorelli, Jason S Eckerman, Joseph J Orsini, Colleen Stevens, Jeremy Hart, Patricia L Hall, John J Alexander, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo
PurposeTo describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.MethodsThe new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator. Using Collaborative Laboratory Integrated Reports (CLIR), the new marker was incorporated in a dual scatter plot that can achieve almost complete segregation between Pompe disease and false-positive cases...
November 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29095275/muscle-ultrasound-a-useful-tool-in-newborn-screening-for-infantile-onset-pompe-disease
#13
Hsuen-En Hwang, Ting-Rong Hsu, Yueh-Hui Lee, Hsin-Kai Wang, Hong-Jen Chiou, Dau-Ming Niu
Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-onset Pompe disease (IOPD) and to establish a system of severity grading. We retrospectively selected 35 patients with initial low acid alpha-glucosidase (GAA) activity and collected data including muscle ultrasound features, GAA gene mutation, activity/performance, and pathological and laboratory findings. The echogenicity of 6 muscles (the bilateral vastus intermedius, rectus femoris, and sartorius muscles) was compared to that of epimysium on ultrasound and rated either 1 (normal), 2 (mildly increased), or 3 (obviously increased)...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29079012/a-historical-and-current-review-of-newborn-screening-for-neuromuscular-disorders-from-around-the-world-lessons-for-the-united-states
#14
REVIEW
Lainie Friedman Ross, Angus John Clarke
BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain...
August 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29061980/structure-of-human-lysosomal-acid-%C3%AE-glucosidase-a-guide-for-the-treatment-of-pompe-disease
#15
Véronique Roig-Zamboni, Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara, Stanley Germany, Yves Bourne, Giancarlo Parenti, Marco Moracci, Gerlind Sulzenbacher
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations in the gaa gene have been reported, but the structural effects of the pathological variants were unknown. Here we present the high-resolution crystal structures of recombinant human GAA (rhGAA), the standard care of Pompe disease...
October 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/29057281/atg5-flox-derived-autophagy-deficient-model-of-pompe-disease-does-it-tell-the-whole-story
#16
REVIEW
Jeong-A Lim, Hossein Zare, Rosa Puertollano, Nina Raben
No abstract text is available yet for this article.
December 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29051784/delivery-and-postpartum-management-of-a-patient-with-pompe-disease-case-report-and-review-of-the-literature
#17
Kazibe Koyuncu, Batuhan Turgay, Rusen Aytac, Feride Soylemez
Pompe disease is an autosomal-recessive disorder caused by acid alpha-glucosidase deficiency due to mutations in the GAA gene. There are two forms of the disease: infantile-onset Pompe disease and late-onset Pompe disease. The worldwide incidence of both forms of the disease is commonly reported to be 1 in 40,000. Adult patients are affected by limb-girdle muscular weakness and respiratory insufficiency. Enzyme replacement therapy with alglucosidase-alpha is available since 2006. There is little knowledge about pregnant woman with Pompe disease...
September 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/29050825/neuroimaging-findings-in-infantile-pompe-patients-treated-with-enzyme-replacement-therapy
#18
Paul T McIntosh, Lisa D Hobson-Webb, Zoheb B Kazi, Sean N Prater, Suhrad G Banugaria, Stephanie Austin, Raymond Wang, David S Enterline, Donald P Frush, Priya S Kishnani
BACKGROUND: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. METHODS: Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT...
October 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29044175/a-skeletal-muscle-model-of-infantile-onset-pompe-disease-with-patient-specific-ips-cells
#19
Takeshi Yoshida, Tomonari Awaya, Tatsuya Jonouchi, Ryo Kimura, Shigemi Kimura, Takumi Era, Toshio Heike, Hidetoshi Sakurai
Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart. Patients with the severe type of the disease, infantile-onset Pompe disease (IOPD), show generalized muscle weakness and heart failure in early infancy. They cannot survive over two years. Enzyme replacement therapy with recombinant human GAA (rhGAA) improves the survival rate, but its effect on skeletal muscle is insufficient compared to other organs...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29018835/-13-c-31-p-mrs-metabolic-biomarkers-of-disease-progression-and-response-to-aav-delivery-of-hgaa-in-a-mouse-model-of-pompe-disease
#20
Celine Baligand, Adrian G Todd, Brittany Lee-McMullen, Ravneet S Vohra, Barry J Byrne, Darin J Falk, Glenn A Walter
The development of therapeutic clinical trials for glycogen storage disorders, including Pompe disease, has called for non-invasive and objective biomarkers. Glycogen accumulation can be measured in vivo with (13)C MRS. However, clinical implementation remains challenging due to low signal-to-noise. On the other hand, the buildup of glycolytic intermediates may be detected with (31)P MRS. We sought to identify new biomarkers of disease progression in muscle using (13)C/(31)P MRS and (1)H HR-MAS in a mouse model of Pompe disease (Gaa(-/-))...
December 15, 2017: Molecular Therapy. Methods & Clinical Development
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