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https://www.readbyqxmd.com/read/28326627/obituary-thomas-earl-starzl-the-father-of-transplantation-march-11-1926-march-4-2017-to-be-published-in-esot-newsletter-transplant-international
#1
Jan P Lerut
March 2016…the transplant community celebrated with pomp the 90(th) birthday of transplantation pioneer, Th. E. Starzl. More than 400 surgeons and scientists originating from all over the United States and from all five continents met in Pittsburgh to pay tribute to their mentor, teacher and friend. The 'Starzl family at large' experienced a once in a lifetime event ending with a thoughtful, but typical (Fig. 1) 'Starzl speech' about past and future, including a humoristic but realistic view on life and ageing...
March 22, 2017: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/28317022/water-dispersible-silica-coated-upconverting-liposomes-can-a-thin-silica-layer-protect-tta-uc-against-oxygen-quenching
#2
Sven H C Askes, Vincent C Leeuwenburgh, Wim Pomp, Hadi Arjmandi-Tash, Stefania Tanase, Thomas Schmidt, Sylvestre Bonnet
Light upconversion by triplet-triplet annihilation (TTA-UC) in nanoparticles has received considerable attention for bioimaging and light activation of prodrugs. However, the mechanism of TTA-UC is inherently sensitive for quenching by molecular oxygen. A potential oxygen protection strategy is the coating of TTA-UC nanoparticles with a layer of oxygen-impermeable material. In this work, we explore if (organo)silica can fulfill this protecting role. Three synthesis routes are described for preparing water-dispersible (organo)silica-coated red-to-blue upconverting liposomes...
March 13, 2017: ACS Biomaterials Science & Engineering
https://www.readbyqxmd.com/read/28316933/letter-to-the-editors-concerning-divergent-clinical-outcomes-of-alphaglucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state-by-takashi-m-et-al
#3
Rita Ortolano, Federico Baronio, Riccardo Masetti, Arcangelo Prete, Alessandra Cassio, Andrea Pession
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#4
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28295152/causally-treatable-hereditary-neuropathies-in-fabry-s-disease-transthyretin-related-familial-amyloidosis-and-pompe-s-disease
#5
REVIEW
J Finsterer, J Wanschitz, S Quasthoff, S Iglseder, W Löscher, W Grisold
OBJECTIVES: Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances...
March 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28285058/conversion-to-open-in-laparoscopic-appendectomy-a-cohort-analysis-of-risk-factors-and-outcomes
#6
Brendan M Finnerty, Xian Wu, Gregory P Giambrone, Licia K Gaber-Baylis, Ramin Zabih, Akshay Bhat, Rasa Zarnegar, Alfons Pomp, Peter Fleischut, Cheguevara Afaneh
BACKGROUND: Identifying risk factors for conversion from laparoscopic to open appendectomy could select patients who may benefit from primary open appendectomy. We aimed to develop a predictive scoring model for conversion from laparoscopic to open based on pre-operative patient characteristics. METHODS: A retrospective review of the State Inpatient Database (2007-2011) was performed using derivation (N = 71,617) and validation (N = 143,235) cohorts of adults ≥ 18 years with acute appendicitis treated by laparoscopic-only (LA), conversion from laparoscopic to open (CA), or primary open (OA) appendectomy...
March 8, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28282939/oral-health-status-of-patients-with-lysosomal-storage-diseases-in-poland
#7
Damian Drążewski, Małgorzata Grzymisławska, Katarzyna Korybalska, Natasza Czepulis, Marian Grzymisławski, Janusz Witowski, Anna Surdacka
Patients with lysosomal storage diseases (LSDs) suffer from physical and mental disabilities, which together with poor access to professional care may lead to impaired oral health. This cross-sectional case-control study characterized the status of oral health in patients with LSDs in Poland. Thirty-six children and young adults with various forms of LSDs were examined. The data were compared with those from age- and sex-matched healthy controls. Exemplary cases were presented to highlight typical problems in oral care associated with LSDs...
March 9, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28267536/bone-density-loss-on-computed-tomography-at-3-year-follow-up-in-current-compared-to-former-male-smokers
#8
E Pompe, J Bartstra, H J Verhaar, H J de Koning, C M van der Aalst, M Oudkerk, R Vliegenthart, J-W J Lammers, P A de Jong, F A A Mohamed Hoesein
OBJECTIVES: Cigarette smoking negatively affects bone quality and increases fracture risk. Little is known on the effect of smoking cessation and computed tomography (CT)-derived bone mineral density (BMD) decline in the spine. We evaluated the association of current and former smoking with BMD decline after 3-year follow-up. METHODS: Male current and former smokers participating in a lung cancer screening trial who underwent baseline and 3-year follow-up CT were included...
April 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28266734/cardiac-response-to-enzyme-replacement-therapy-in-infantile-pompe-disease-with-severe-hypertrophic-cardiomyopathy
#9
Sravani Avula, Thuylinh M Nguyen, Michael Marble, Christian Lilje
Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of the disease. Decrease in ventricular hypertrophy and improvement in ventricular function have been suggested as proof for efficacy. We report the cardiac response to ERT of a child with IOPD and severe hypertrophic cardiomyopathy. The myocardial hypertrophy resolved. Change in ejection fraction, however, was slow...
March 7, 2017: Echocardiography
https://www.readbyqxmd.com/read/28265479/clinical-analysis-of-algerian-patients-with-pompe-disease
#10
Y Sifi, M Medjroubi, R Froissart, N Taghane, K Sifi, A Benhabiles, S Lemai, S Semra, H Benmekhebi, Z Bouderda, N Abadi, A Hamri
Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure...
2017: Journal of Neurodegenerative Diseases
https://www.readbyqxmd.com/read/28263418/crystal-structure-of-human-proteasome-assembly-chaperone-pac4-involved-in-proteasome-formation
#11
Eiji Kurimoto, Tadashi Satoh, Yuri Ito, Eri Ishihara, Kenta Okamoto, Maho Yagi-Utsumi, Keiji Tanaka, Koichi Kato
The 26S proteasome is a large protein complex, responsible for degradation of ubiquinated proteins in eukaryotic cells. Eukaryotic proteasome formation is a highly ordered process that is assisted by several assembly chaperones. The assembly of its catalytic 20S core particle depends on at least five proteasome-specific chaperones, i.e., proteasome-assembling chaperons 1-4 (PAC1-4) and proteasome maturation protein (POMP). The orthologues of yeast assembly chaperones have been structurally characterized, whereas most mammalian assembly chaperones are not...
March 6, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28258649/the-cardiac-manifestations-of-inherited-metabolic-diseases-in-children
#12
REVIEW
David F A Lloyd, Roshni Vara, Sujeev Mathur
Inborn errors of metabolism (IEMs) are responsible for around 5% of all cases of cardiomyopathy (CM) and 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic cardiomyopathy, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEMs such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis (EFE) and left ventricular non-compaction...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28251514/human-induced-pluripotent-stem-cell-based-modeling-of-cardiac-storage-disorders
#13
REVIEW
Bradley C Nelson, Sherin I Hashem, Eric D Adler
PURPOSE OF REVIEW: The aim of this study is to review the published human-induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) models of cardiac storage disorders and to evaluate the limitations and future applications of this technology. RECENT FINDINGS: Several cardiac storage disorders (CSDs) have been modeled using patient-specific hiPSC-CMs, including Anderson-Fabry disease, Danon disease, and Pompe disease. These models have shown that patient-specific hiPSC-CMs faithfully recapitulate key phenotypic features of CSDs and respond predictably to pharmacologic manipulation...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28249362/effects-of-lysosomal-biotherapeutic-recombinant-protein-expression-on-cell-stress-and-protease-and-general-host-cell-protein-hcp-release-in-chinese-hamster-ovary-cells
#14
Damiano Migani, C Mark Smales, Daniel G Bracewell
Recombinant human Acid Alpha Glucosidase (GAA) is the therapeutic enzyme used for the treatment of Pompe disease, a rare genetic disorder characterised by GAA deficiency in the cell lysosomes(1) . The manufacturing process for GAA can be challenging, in part due to protease degradation. The overall goal of this study was to understand the effects of GAA overexpression on cell lysosomal phenotype and host cell protein (HCP) release, and any resultant consequences for protease levels and ease of manufacture. To do this we first generated a human recombinant GAA producing stable CHO cell line and designed the capture chromatographic step anion exchange (IEX)...
March 1, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28225043/prevention-of-tumorigenesis-in-mice-by-exercise-is-dependent-on-strain-background-and-timing-relative-to-carcinogen-exposure
#15
Scott A Kelly, Liyang Zhao, Kuo-Chen Jung, Kunjie Hua, David W Threadgill, Yunjung Kim, Fernando Pardo Manuel de Villena, Daniel Pomp
Among cancer diagnoses, colorectal cancer (CRC) is prevalent, with a lifetime risk of developing CRC being approximately 5%. Population variation surrounding the mean risk of developing CRCs has been associated with both inter-individual differences in genomic architecture and environmental exposures. Decreased risk of CRC has been associated with physical activity, but protective responses are variable. Here, we utilized a series of experiments to examine the effects of genetic background (strain), voluntary exercise (wheel running), and their interaction on azoxymethane (AOM)-induced intestinal tumor number and size in mice...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216329/oncological-and-functional-outcomes-after-radical-prostatectomy-for-high-or-very-high-risk-prostate-cancer-european-validation-of-the-current-nccn-guideline
#16
Raisa S Pompe, Pierre I Karakiewicz, Zhe Tian, Philipp Mandel, Thomas Steuber, Thorsten Schlomm, Georg Salomon, Markus Graefen, Hartwig Huland, Derya Tilki
PURPOSE: To validate the current NCCN-classification of very high-risk (VHR) patients and compare the pathological, functional and oncological outcomes between surgically treated high- (HR) and VHR patients. MATERIALS & METHODS: We retrospectively analyzed 4041 patients stratified into high- or VHR who underwent RP between 1992-2016. Kaplan-Meier as well as multivariable logistic and Cox regression analyses compared outcomes between the two groups. RESULTS: After RP, the rate of adverse pathological features was higher in 1369 VHR vs...
February 16, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28196920/liquid-chromatography-tandem-mass-spectrometry-assay-of-leukocyte-acid-%C3%AE-glucosidase-for-post-newborn-screening-evaluation-of-pompe-disease
#17
Na Lin, Jingyu Huang, Sara Violante, Joseph J Orsini, Michele Caggana, Erin E Hughes, Colleen Stevens, Lisa DiAntonio, Hsuan Chieh Liao, Xinying Hong, Farideh Ghomashchi, Arun Babu Kumar, Hui Zhou, Ruth Kornreich, Melissa Wasserstein, Michael H Gelb, Chunli Yu
BACKGROUND: Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset form (LOPD) with variable onset and progressive weakness and respiratory failure. Because the prognosis and treatment options are different for IOPD and LOPD, it is important to accurately determine an individual's phenotype...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28185884/the-emerging-phenotype-of-late-onset-pompe-disease-a-systematic-literature-review
#18
REVIEW
Justin Chan, Ankit K Desai, Zoheb B Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D Hobson-Webb, Laura E Case, Harrison N Jones, Priya S Kishnani
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. PURPOSE: To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28181274/hereditary-myopathies-with-early-respiratory-insufficiency-in-adults
#19
Elie Naddaf, Margherita Milone
INTRODUCTION: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. METHODS: We reviewed the clinical and laboratory data of patients with hereditary myopathies that demonstrated early respiratory insufficiency prior to the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28170191/metabolomic-profiling-of-pompe-disease-induced-pluripotent-stem-cell-derived-cardiomyocytes-reveals-that-oxidative-stress-is-associated-with-cardiac-and-skeletal-muscle-pathology
#20
Yohei Sato, Hiroshi Kobayashi, Takashi Higuchi, Yohta Shimada, Hiroyuki Ida, Toya Ohashi
Pompe disease (PD) is a lysosomal storage disease that is caused by a deficiency of the acid α-glucosidase, which results in glycogen accumulation in the lysosome. The major clinical symptoms of PD include skeletal muscle weakness, respiratory failure, and cardiac hypertrophy. Based on its severity and symptom onset, PD is classified into infantile and late-onset forms. Lysosomal accumulation of glycogen can promote many types of cellular dysfunction, such as autophagic dysfunction, endoplasmic reticulum stress, and abnormal calcium signaling within skeletal muscle...
January 2017: Stem Cells Translational Medicine
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