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Pompe disease

Neetu Ramrakhiani, Khusboo Agarwal, Ankit Bansal
No abstract text is available yet for this article.
March 2018: Neurology India
U Plöckinger, V Prasad, A Ziagaki, N Tiling, A Poellinger
BACKGROUND: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Unfortunately, there is no biomarker available to indicate therapeutic efficacy and/or disease activity...
March 9, 2018: Human Genomics
Raisa S Pompe, Bieke Kühn-Thomä, Yamini Nagaraj, Valia Veleva, Felix Preisser, Sami-Ramzi Leyh-Bannurah, Markus Graefen, Hartwig Huland, Derya Tilki, Georg Salomon
PURPOSE: To validate current eligibility criteria for focal therapy (FT) in prostate cancer men undergoing radical prostatectomy (RP) and to assess the role of magnetic resonance imaging (MRI). METHODS: Retrospective analysis of 217 RP patients (2009-2016) with preoperative MRI (almost all in external institutions) and fulfillment of different FT eligibility criteria: unilateral tumor, clinical tumor stage ≤ cT2a, prostate volume ≤ 60 mL and either biopsy Gleason 3 + 3 or ≤ 3 + 4 and PSA ≤ 10 or ≤ 15 ng/mL...
February 28, 2018: World Journal of Urology
Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Methods: Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted...
February 20, 2018: Chinese Medical Journal
Marco Bandini, Ariane Smith, Michele Marchioni, Raisa S Pompe, Tristan F Martel, Luca Cindolo, Francesco Montorsi, Shahrokh F Shariat, Alberto Briganti, Anil Kapoor, Umberto Capitanio, Pierre I Karakiewicz
To conduct a review of literature on adjuvant therapy in nonmetastatic renal-cell carcinoma (nmRCC) treated with nephrectomy and to describe the efficacy of adjuvant agents on cancer control outcomes. A review of the literature was performed in January 2018 to identify all studies evaluating adjuvant therapy in patients with nmRCC treated with nephrectomy using PubMed, Embase, Medline, and Cochrane Library databases. The following keywords were used: adjuvant therapy, renal-cell carcinoma, nonmetastatic, targeted molecular therapy, kidney cancer...
February 2, 2018: Clinical Genitourinary Cancer
A Nascimento, E Villalobos-Pinto
INTRODUCTION: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy (ERT) became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. CASE REPORTS: Case 1: 2-month-old infant with predominantly axial hypotonia who required the use of a nasogastric tube as a result of difficulties in sucking and swallowing...
February 16, 2018: Revista de Neurologia
Esther Poelman, Marianne Hoogeveen-Westerveld, Marian A Kroos-de Haan, Johanna M P van den Hout, Kees J Bronsema, Nico C van de Merbel, Ans T van der Ploeg, W W M Pim Pijnappel
OBJECTIVE: To evaluate whether immunomodulation at start of enzyme replacement therapy induces immune tolerance to recombinant human acid alpha-glucosidase (rhGAA) in patients with classic infantile Pompe disease. STUDY DESIGN: Three patients (1 cross reactive immunologic material negative, 2 cross reactive immunologic material positive) were treated with 4 weekly doses of rituximab, weekly methotrexate, and monthly intravenous immunoglobulin and enzyme replacement therapy at 40 mg/kg/week...
February 7, 2018: Journal of Pediatrics
Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
BACKGROUND: Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. At the same time limited data are available on the long-term treatment in CRIM-positive infants. METHODS: A retrospective multicentre observational study was designed to analyse the long-term effectiveness of ERT in IOPD...
February 8, 2018: Orphanet Journal of Rare Diseases
Munevver Celik Gokyigit, Hakan Ekmekci, Hacer Durmus, Necdet Karlı, Emel Koseoglu, Fikret Aysal, Dilcan Kotan, Asuman Ali, Pınar Kahraman Koytak, Hatice Karasoy, Aylin Yaman, İhsan Sukru Sengun, Refah Sayin, Bedile Irem Tiftikcioglu, Aysun Soysal, Kemal Tutkavul, Ayse Oytun Bayrak, Aysin Kısabay, Mehmet Ali Elci, Vildan Yayla, İbrahim Arda Yılmaz, Sevim Erdem Ozdamar, Cagdas Erdogan, Nebahat Tasdemir, Piraye Serdaroglu Oflazer
The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD...
December 20, 2017: Neuromuscular Disorders: NMD
Miriam Martínez, Mar García Romero, Luis García Guereta, Marta Cabrera, Rita M Regojo, Luis Albajara, Maria L Couce, Miguel Saenz de Pipaon
RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. PATIENT CONCERNS: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening...
December 2017: Medicine (Baltimore)
R N Alcalay, P Wolf, O A Levy, U J Kang, C Waters, S Fahn, B Ford, S H Kuo, N Vanegas, H Shah, C Liong, S Narayan, M W Pauciulo, W C Nichols, Z Gan-Or, G A Rouleau, W K Chung, P Oliva, J Keutzer, K Marder, X K Zhang
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University...
January 21, 2018: Neurobiology of Disease
David A Kennedy, Patricia A Dunn, Andrew F Read
Marek's disease virus (MDV) is a pathogen of chickens whose control has twice been undermined by pathogen evolution. Disease ecology is believed to be the main driver of this evolution, yet mathematical models of MDV disease ecology have never been confronted with data to test their reliability. Here, we develop a suite of MDV models that differ in the ecological mechanisms they include. We fit these models with maximum likelihood using iterated filtering in 'pomp' to data on MDV concentration in dust collected from two commercial broiler farms...
January 10, 2018: Epidemics
Ronen Bar-Yoseph, Hanna Mandel, Gur Mainzer, Michal Gur, Galit Tal, George Shalloufeh, Lea Bentur
INTRODUCTION: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients. METHODS: Five Pompe patients (10-19 years, 4 infantile-onset and 1 diagnosed at 5 years) were evaluated before and 2 days after ERT using cardiopulmonary exercise testing (CPET), 6 min walking test (6MWT) and motor function test (GMFM-88). RESULTS: Preserved normal peak oxygen uptake, 6MWT and motor function were observed in the relative mild disease and impairment of these parameters in the more advanced disease...
January 22, 2018: Pediatric Pulmonology
Hagop Kantarjian, Farhad Ravandi, Nicholas J Short, Xuelin Huang, Nitin Jain, Koji Sasaki, Naval Daver, Naveen Pemmaraju, Joseph D Khoury, Jeffrey Jorgensen, Yesid Alvarado, Marina Konopleva, Guillermo Garcia-Manero, Tapan Kadia, Musa Yilmaz, Gautam Bortakhur, Jan Burger, Steven Kornblau, William Wierda, Courtney DiNardo, Alessandra Ferrajoli, Jovitta Jacob, Rebecca Garris, Susan O'Brien, Elias Jabbour
BACKGROUND: Inotuzumab ozogamicin, an anti-CD22 monoclonal antibody bound to a toxin, calicheamicin, has shown single-agent activity in relapsed or refractory acute lymphoblastic leukaemia. We aimed to assess the activity and safety of inotuzumab ozogamicin in combination with low-intensity chemotherapy in older patients with acute lymphoblastic leukaemia. METHODS: We did a single-arm, phase 2 study at the MD Anderson Cancer Center (Houston, TX, USA). Eligible patients were aged 60 years or older and had newly diagnosed, Philadelphia chromosome-negative, acute lymphoblastic leukaemia, and an Eastern Cooperative Oncology Group performance status of 3 or lower...
January 15, 2018: Lancet Oncology
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
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
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
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
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
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
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