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https://www.readbyqxmd.com/read/28225043/prevention-of-tumorigenesis-in-mice-by-exercise-is-dependent-on-strain-background-and-timing-relative-to-carcinogen-exposure
#1
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
#2
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
#3
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
#4
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...
December 11, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28181274/hereditary-myopathies-with-early-respiratory-insufficiency-in-adults
#5
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
#6
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
https://www.readbyqxmd.com/read/28169013/cost-analysis-of-an-outbreak-of-clostridium-difficile-infection-ribotype-027-in-a-dutch-tertiary-care-centre
#7
Y H van Beurden, M K Bomers, S D van der Werff, E A P M Pompe, S Spiering, C M J E Vandenbroucke-Grauls, C J J Mulder
BACKGROUND: The economic impact of Clostridium difficile infection (CDI) on the healthcare system is significant. From May 2013 to May 2014, an outbreak of C. difficile ribotype 027 occurred in a Dutch tertiary care hospital, involving 72 patients. The primary aim of this study was to provide insight into the financial burden that this CDI outbreak brought upon this hospital. METHODS: A retrospective analysis was performed to estimate the costs of a one-year-long C...
December 30, 2016: Journal of Hospital Infection
https://www.readbyqxmd.com/read/28161322/radical-prostatectomy-neutralizes-obesity-driven-risk-of-prostate-cancer-progression
#8
Jonas Schiffmann, Georg Salomon, Derya Tilki, Lars Budäus, Pierre I Karakiewicz, Sami-Ramzi Leyh-Bannurah, Raisa S Pompe, Alexander Haese, Hans Heinzer, Hartwig Huland, Markus Graefen, Pierre Tennstedt
INTRODUCTION: Obesity negatively affects several prostate cancer (PCa) outcomes, including mortality to PCa. However, the validity of several such associations is still under debate, including its effect on pathological stage at radical prostatectomy (RP) and subsequent biochemical recurrence (BCR), which represents the focus of this study. METHODS: We relied on patients with PCa treated with RP at the Martini-Klinik Prostate Cancer Center between 2004 and 2015...
February 1, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28158204/atmospheric-co2-concentration-effects-on-rice-water-use-and-biomass-production
#9
Uttam Kumar, William Paul Quick, Marilou Barrios, Pompe C Sta Cruz, Michael Dingkuhn
Numerous studies have addressed effects of rising atmospheric CO2 concentration on rice biomass production and yield but effects on crop water use are less well understood. Irrigated rice evapotranspiration (ET) is composed of floodwater evaporation and canopy transpiration. Crop coefficient Kc (ET over potential ET, or ETo) is crop specific according to FAO, but may decrease as CO2 concentration rises. A sunlit growth chamber experiment was conducted in the Philippines, exposing 1.44-m2 canopies of IR72 rice to four constant CO2 levels (195, 390, 780 and 1560 ppmv)...
2017: PloS One
https://www.readbyqxmd.com/read/28156003/population-based-validation-of-the-2014-isup-gleason-grade-groups-in-patients-treated-with-radical-prostatectomy-brachytherapy-external-beam-radiation-or-no-local-treatment
#10
Raisa S Pompe, Helen Davis-Bondarenko, Emanuele Zaffuto, Zhe Tian, Shahrokh F Shariat, Sami-Ramzi Leyh-Bannurah, Jonas Schiffmann, Fred Saad, Hartwig Huland, Markus Graefen, Derya Tilki, Pierre I Karakiewicz
BACKGROUND: To test discriminant ability of the 2014 ISUP Gleason grade groups (GGG) for prediction of prostate cancer specific mortality (PCSM) after radical prostatectomy (RP), brachytherapy (BT), external beam radiation (EBRT) or no local treatment (NLT) relative to traditional Gleason grading (TGG). METHODS: In the Surveillance, Epidemiology, and End Results (SEER)-database (2004-2009), 2,42,531 non-metastatic prostate cancer (PCa) patients were identified, who underwent local treatment (RP, BT, EBRT only) or NLT...
February 3, 2017: Prostate
https://www.readbyqxmd.com/read/28155056/nutrient-status-9%C3%A2-years-after-biliopancreatic-diversion-with-duodenal-switch-bpd-ds-an-observational-study
#11
Gladys Witt Strain, Mehyar Hefazi Torghabeh, Michel Gagner, Faith Ebel, Gregory F Dakin, Daniel Connolly, Elizabeth Goldenberg, Alfons Pomp
BACKGROUND: Since biliopancreatic diversion with duodenal switch (BPD/DS) produces hypoabsorption, evaluation of long-term nutrient changes is appropriate. METHODS: Measurements of micronutrients, trace elements, PTH, iron studies, and protein were completed for consented patients at baseline prior to surgery and at yearly intervals. The patients were advised and supplements were adjusted by blood studies with compliance checks. Independent t tests and ANOVAs compared changes between cross-sectional cohorts based on follow-up time from surgery...
February 2, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28154884/antibody-mediated-enzyme-replacement-therapy-targeting-both-lysosomal-and-cytoplasmic-glycogen-in-pompe-disease
#12
Haiqing Yi, Tao Sun, Dustin Armstrong, Scott Borneman, Chunyu Yang, Stephanie Austin, Priya S Kishnani, Baodong Sun
: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) targets the enzyme to lysosomes and thus is unable to digest cytoplasmic glycogen. Studies have shown that anti-DNA antibody 3E10 penetrates living cells and delivers "cargo" proteins to the cytosol or nucleus via equilibrative nucleoside transporter ENT2...
February 2, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28137496/parametric-response-mapping-on-chest-computed-tomography-associates-with-clinical-and-functional-parameters-in-chronic-obstructive-pulmonary-disease
#13
Esther Pompe, Craig J Galbán, Brian D Ross, Leo Koenderman, Nick Ht Ten Hacken, Dirkje S Postma, Maarten van den Berge, Pim A de Jong, Jan-Willem J Lammers, Firdaus Aa Mohamed Hoesein
BACKGROUND: In the search for specific phenotypes of chronic obstructive pulmonary disease (COPD) computed tomography (CT) derived Parametric Response Mapping (PRM) has been introduced. This study evaluates the association between PRM and currently available biomarkers of disease severity in COPD. METHODS: Smokers with and without COPD were characterized based on questionnaires, pulmonary function tests, body plethysmography, and low-dose chest CT scanning. PRM was used to calculate the amount of emphysema (PRM(Emph)) and non-emphysematous air trapping (i...
February 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28135049/instructing-human-macrophage-polarization-by-stiffness-and-glycosaminoglycan-functionalization-in-3d-collagen-networks
#14
Markus Friedemann, Liv Kalbitzer, Sandra Franz, Stephanie Moeller, Matthias Schnabelrauch, Jan-Christoph Simon, Tilo Pompe, Katja Franke
Dynamic alterations of composition and mechanics of the extracellular matrix are suggested to modulate cellular behavior including plasticity of macrophages (MPhs) during wound healing. In this study, engineered 3D fibrillar matrices based on naturally occurring biopolymers (collagen I, glycosaminoglycans (GAGs)) are used to mimic matrix stiffening as well as modification by sulfated and nonsulfated GAGs at different stages of wound healing. Human MPhs are found to sensitively respond to these microenvironmental cues in terms of polarization toward proinflammatory or wound healing phenotypes over 6 days in vitro...
January 30, 2017: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/28130275/modulation-of-mtor-signaling-as-a-strategy-for-the-treatment-of-pompe-disease
#15
Jeong-A Lim, Lishu Li, Orian S Shirihai, Kyle M Trudeau, Rosa Puertollano, Nina Raben
Mechanistic target of rapamycin (mTOR) coordinates biosynthetic and catabolic processes in response to multiple extracellular and intracellular signals including growth factors and nutrients. This serine/threonine kinase has long been known as a critical regulator of muscle mass. The recent finding that the decision regarding its activation/inactivation takes place at the lysosome undeniably brings mTOR into the field of lysosomal storage diseases. In this study, we have examined the involvement of the mTOR pathway in the pathophysiology of a severe muscle wasting condition, Pompe disease, caused by excessive accumulation of lysosomal glycogen...
January 27, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28127431/adult-onset-pompe-s-disease-presenting-with-insidious-hypercapnic-respiratory-failure
#16
Cara O'Callaghan, Robert Henderson, Philip Masel, George Tay, Benjamin Tsang
Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe generalized muscle weakness, but the diaphragm can be the initial or only muscle involved. Here, we report the case of a 39-year-old female who presented with slowly progressive orthopnoea and daytime somnolence. Pulmonary function studies and polysomnogram confirmed bilateral diaphragm weakness complicated by nocturnal hypoventilation and she was subsequently diagnosed with adult-onset Pompe's disease, a rare metabolic myopathy...
September 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/28120517/dissociated-excitation-contraction-coupling-in-infantile-pompe-disease
#17
Ludwig Gutmann, Margaret Jaynes, Kymberly Gyure, Christopher Nance, Laurie Gutmann
No abstract text is available yet for this article.
January 24, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28102630/enzyme-therapy-for-hypertrophic-cardiomyopathy-in-non-classical-pompe-disease-effectiveness-of-treatment
#18
Jiyoung Kim, Hyemin Kim, Lucy Youngmin Eun
No abstract text is available yet for this article.
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28093788/north-american-population-based-validation-of-the-national-comprehensive-cancer-network-practice-guideline-recommendation-of-pelvic-lymphadenectomy-in-contemporary-prostate-cancer
#19
Sami-Ramzi Leyh-Bannurah, Lars Budäus, Raisa Pompe, Emanuele Zaffuto, Alberto Briganti, Firas Abdollah, Francesco Montorsi, Jonas Schiffmann, Mani Menon, Shahrokh F Shariat, Margit Fisch, Felix Chun, Hartwig Huland, Markus Graefen, Pierre I Karakiewicz
BACKGROUND: National Comprehensive Cancer Network (NCCN) guidelines recommend a pelvic lymph node dissection (PLND) in prostate cancer (PCa) patients treated with radical prostatectomy (RP) if a nomogram predicted risk of lymph node invasion (LNI) is ≥2%. We examined this and other thresholds, including nomogram validation. METHODS: We examined records of 26,713 patients treated with RP and PLND between 2010 and 2013, within the Surveillance, Epidemiology, and End Results database...
January 17, 2017: Prostate
https://www.readbyqxmd.com/read/28079116/katanin-p80-numa-and-cytoplasmic-dynein-cooperate-to-control-microtubule-dynamics
#20
Mingyue Jin, Oz Pomp, Tomoyasu Shinoda, Shiori Toba, Takayuki Torisawa, Ken'ya Furuta, Kazuhiro Oiwa, Takuo Yasunaga, Daiju Kitagawa, Shigeru Matsumura, Takaki Miyata, Thong Teck Tan, Bruno Reversade, Shinji Hirotsune
Human mutations in KATNB1 (p80) cause severe congenital cortical malformations, which encompass the clinical features of both microcephaly and lissencephaly. Although p80 plays critical roles during brain development, the underlying mechanisms remain predominately unknown. Here, we demonstrate that p80 regulates microtubule (MT) remodeling in combination with NuMA (nuclear mitotic apparatus protein) and cytoplasmic dynein. We show that p80 shuttles between the nucleus and spindle pole in synchrony with the cell cycle...
January 12, 2017: Scientific Reports
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