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Pompe disease

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https://www.readbyqxmd.com/read/29788986/enzyme-replacement-therapy-reduces-the-risk-for-wheelchair-dependency-in-adult-pompe-patients
#1
Jan C van der Meijden, Michelle E Kruijshaar, Dimitris Rizopoulos, Pieter A van Doorn, Nadine A M E van der Beek, Ans T van der Ploeg
BACKGROUND: Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzyme replacement therapy (ERT) to positively affect motor and respiratory outcomes. Here we investigate whether ERT reduces patients' risk of needing a wheelchair or respirator. METHODS: Data were collected as part of a prospective international survey, the IPA/Erasmus MC Pompe survey, which was conducted annually between 2002 and 2016...
May 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#2
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29777230/serum-biomarkers-of-inflammation-and-adiposity-in-the-labs-cohort-associations-with-metabolic-disease-and-surgical-outcomes
#3
Robert W O'Rourke, Geoffrey S Johnson, Jonathan Q Purnell, Anita P Courcoulas, Gregory F Dakin, Luis Garcia, Marcelo Hinojosa, James E Mitchell, Alfons Pomp, Walter J Pories, Konstantinos Spaniolas, David R Flum, Abdus S Wahed, Bruce M Wolfe
BACKGROUND: The utility of serum biomarkers related to inflammation and adiposity as predictors of metabolic disease prevalence and outcomes after bariatric surgery are not well-defined. METHODS: Associations between pre- and post-operative serum levels of four biomarkers (C-reactive protein (CRP), cystatin C (CC), leptin, and ghrelin) with baseline measures of adiposity and metabolic disease prevalence (asthma, diabetes, sleep apnea), and weight loss and metabolic disease remission after bariatric surgery were studied in the Longitudinal Assessment of Bariatric Surgery (LABS) cohort...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29770361/differential-diagnosis-of-vacuolar-muscle-biopsies-use-of-p62-lc3-and-lamp2-immunohistochemistry
#4
Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini
Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns for autophagic markers p62, LC3 and LAMP2 with routine histochemical markers in 39 biopsies from patients with definite diagnoses of glycogen storage disease type 2 (LOPD or Pompe disease, PD), sporadic inclusion body myositis (sIBM), oculo-pharyngeal muscular dystrophy (OPMD) and necrotizing myopathy (NM)...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29755837/chagasic-cardiomyopathy-and-pompe-disease-case-report
#5
Rafael Ob de Morais, Ândrea V Chaves-Markman, Anna Pp Miranda, Ingrid G Amorim, Maria da Ga de M Cavalcanti, Manuel Markman, Brivaldo Markman-Filho
BACKGROUND: Pompe disease is a lysosomal storage disease with an autosomal recessive inheritance characterized by an insufficient activity of the acid alpha-glucosidase enzyme. The incidence varies from 1:40000 to 1:200000 live births and cardiac involvement in adults is rare. Chagas disease is an infection caused by the protozoan Trypanosoma cruzi, in which one-third of the cases progress to the chronic form, and may lead to cardiac involvement, usually from the fifth decade of life onwards...
2018: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/29749992/a-new-mutation-causing-severe-infantile-onset-pompe-disease-responsive-to-enzyme-replacement-therapy
#6
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase ( GAA ) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29748118/diaphragmatic-dysfunction-as-the-presenting-symptom-in-neuromuscular-disorders-a-retrospective-longitudinal-study-of-etiology-and-outcome-in-30-german-patients
#7
Matthias Türk, Irina Weber, Gernot Vogt-Ladner, Rolf Schröder, Martin Winterholler
Diaphragmatic dysfunction is well-known in advanced stages of neuromuscular disorders. However, data on its presence as the presenting symptom in neuromuscular disorders is scarce. The goal of this retrospective longitudinal study was to evaluate the etiology and clinical outcome in patients, in whom uni- or bilateral diaphragmatic dysfunction was primarily diagnosed, before a specific neuromuscular disease was found. Patients with critical illness neuropathy/myopathy were excluded from this study. Analysis of the medical records of two tertiary referral centers for patients with neuromuscular diseases identified 30 corresponding patients with diaphragmatic dysfunction (17 unilateral; 13 bilateral)...
April 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29742245/late-onset-pompe-disease-what-is-the-prevalence-of-limb-girdle-muscular-weakness-presentation
#8
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29731431/large-scale-expansion-of-human-ipsc-derived-skeletal-muscle-cells-for-disease-modeling-and-cell-based-therapeutic-strategies
#9
Erik van der Wal, Pablo Herrero-Hernandez, Raymond Wan, Mike Broeders, Stijn L M In 't Groen, Tom J M van Gestel, Wilfred F J van IJcken, Tom H Cheung, Ans T van der Ploeg, Gerben J Schaaf, W W M Pim Pijnappel
Although skeletal muscle cells can be generated from human induced pluripotent stem cells (iPSCs), transgene-free protocols include only limited options for their purification and expansion. In this study, we found that fluorescence-activated cell sorting-purified myogenic progenitors generated from healthy controls and Pompe disease iPSCs can be robustly expanded as much as 5 × 1011 -fold. At all steps during expansion, cells could be cryopreserved or differentiated into myotubes with a high fusion index...
April 28, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29703246/clostridium-difficile-cure-with-fecal-microbiota-transplantation-in-a-child-with-pompe-disease-a-case-report
#10
D E Dow, P C Seed
BACKGROUND: Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged antibiotic exposure and hospitalization and the emergence of strains of Clostridium difficile that are hypervirulent and associated with high rates of relapse. CASE PRESENTATION: This case describes a medically complex 21-month-old Hispanic girl with Pompe disease and B cell immunodeficiency with recurrent Clostridium difficile infection refractory to antimicrobial management...
April 28, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29685979/the-past-and-presence-of-gene-targeting-from-chemicals-and-dna-via-proteins-to-rna
#11
REVIEW
T M Geel, M H J Ruiters, R H Cool, L Halby, D C Voshart, L Andrade Ruiz, K E Niezen-Koning, P B Arimondo, M G Rots
The ability to target DNA specifically at any given position within the genome allows many intriguing possibilities and has inspired scientists for decades. Early gene-targeting efforts exploited chemicals or DNA oligonucleotides to interfere with the DNA at a given location in order to inactivate a gene or to correct mutations. We here describe an example towards correcting a genetic mutation underlying Pompe's disease using a nucleotide-fused nuclease (TFO-MunI). In addition to the promise of gene correction, scientists soon realized that genes could be inactivated or even re-activated without inducing potentially harmful DNA damage by targeting transcriptional modulators to a particular gene...
June 5, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29680633/multiplex-tandem-mass-spectrometry-assay-for-newborn-screening-of-x-linked-adrenoleukodystrophy-biotinidase-deficiency-and-galactosemia-with-flexibility-to-assay-other-enzyme-assays-and-biomarkers
#12
Xinying Hong, Arun Babu Kumar, C Ronald Scott, Michael H Gelb
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD...
March 29, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29655528/a-mobile-app-for-patients-with-pompe-disease-and-its-possible-clinical-applications
#13
Giulia Ricci, Sigrid Baldanzi, Fabrizio Seidita, Chiara Proietti, Francesca Carlini, Silvia Peviani, Giovanni Antonini, Andrea Vianello, Gabriele Siciliano
In recent years, the potential of smart technology to provide innovative solutions for disease management has raised high expectations for patients' and healthcare professionals' community. We developed a mobile app, called AIGkit, specifically designed for adult patients with Pompe disease, with the aim to help them manage the burden of illness-related factors, and also to provide clinicians with continuous tracking of each patient in real-time and ambient conditions of everyday life. We present the AIGkit as an innovative approach exploiting cutting-edge technology to improve quality of care and research into neuromuscular disorders...
March 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29649469/phosphatidylserine-is-not-just-a-cleanup-crew-but-also-a-well-meaning-teacher
#14
Fiona Y Glassman, Jennifer L Schneider, Radha Ramakrishnan, Robert K Dingman, Murali Ramanathan, Richard B Bankert, Sathy V Balu-Iyer
Phosphatidylserine (PS) exposure during apoptosis leads to silent clearance of cells without adverse immune reactions to self-proteins. Given the biological functions of PS in cellular cleanup and global immunosuppression, we hypothesized that administration of PS-protein complexes would reduce immunogenicity. Here, we report that exposing Pompe disease mice to acid alpha glucosidase (rhGAA) with PS or immunosuppressant dexamethasone (Dex) resulted in lower anti-rhGAA-antibodies than in animals receiving rhGAA alone...
April 9, 2018: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29627187/severe-cardiac-involvement-is-rare-in-patients-with-late-onset-pompe-disease-and-the-common-c-32-13t-g-variant-implications-for-newborn-screening
#15
Mrudu Herbert, Heidi Cope, Jennifer S Li, Priya S Kishnani
Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequent cardiac follow-up with electrocardiography for arrhythmias. However, there is limited evidence for performing repeated echocardiography for cardiomyopathy.
April 4, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29607951/efficacy-of-vonoprazan-for-gastroesophageal-reflux-symptoms-in-patients-with-proton-pump-inhibitor-resistant-non-erosive-reflux-disease
#16
Ryota Niikura, Atsuo Yamada, Yoshihiro Hirata, Yoku Hayakawa, Akihiro Takahashi, Tomohiro Shinozaki, Yoshinori Takeuchi, Mitsuhiro Fujishiro, Kazuhiko Koike
Objective Clinically, patients with proton pomp inhibitor (PPI)-resistant gastro-esophageal reflux disease (GERD) are very challenging to treat. The aim of this study was to determine the rates of symptom relief and adverse events among PPI-resistant GERD patients that changed their therapy from a PPI to vonoprazan. Methods Patients with severe gastroesophageal reflux symptoms (total GERD-Q score ≥8) without endoscopic findings of mucosal breaks who changed their medication from a PPI to vonoprazan during a 12-week period from 2015 to 2016 at 2 hospitals were selected...
March 30, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29603918/the-effect-of-age-on-cancer-specific-mortality-in-patients-with-small-renal-masses-a-population-based-analysis
#17
Marco Bandini, Michele Marchioni, Raisa S Pompe, Zhe Tian, Tristan Martel, Felix K Chun, Luca Cindolo, Anil Kapoor, Francesco Montorsi, Shahrokh F Shariat, Alberto Briganti, Pierre I Karakiewicz
INTRODUCTION: Contemporary data regarding the effect of age, especially in the elderly patients, on cancer-specific mortality (CSM) for pT1a renal cell cancer (RCC) are lacking. The objective of the current study is to evaluate CSM in a large population-based cohort of surgically treated pT1a RCC patients according to age groups. METHODS: Within the Surveillance Epidemiology and End Results database (2000-2013), we identified 37 121 pT1a RCC patients who underwent either partial or radical nephrectomy...
March 19, 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29603727/novel-pompe-disease-phenotype-a-treatment-related-modified-phenotype-neglecting-the-brain
#18
Benedikt Schoser
No abstract text is available yet for this article.
March 30, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29594646/newborn-screening-for-pompe-disease-impact-on-families
#19
B Pruniski, E Lisi, N Ali
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29576315/liver-induced-transgene-tolerance-with-aav-vectors
#20
REVIEW
Geoffrey D Keeler, David M Markusic, Brad E Hoffman
Immune tolerance is a vital component of immunity, as persistent activation of immune cells causes significant tissue damage and loss of tolerance leads to autoimmunity. Likewise, unwanted immune responses can occur in inherited disorders, such as hemophilia and Pompe disease, in which patients lack any expression of protein, during treatment with enzyme replacement therapy, or gene therapy. While the liver has long been known as being tolerogenic, it was only recently appreciated in the last decade that liver directed adeno-associated virus (AAV) gene therapy can induce systemic tolerance to a transgene...
December 5, 2017: Cellular Immunology
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