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https://www.readbyqxmd.com/read/28102630/enzyme-therapy-for-hypertrophic-cardiomyopathy-in-non-classical-pompe-disease-effectiveness-of-treatment
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#4
Alexander V Skurat, Dyann Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
January 10, 2017: Glycobiology
https://www.readbyqxmd.com/read/28045567/disruption-of-the-gaa-gene-in-zebrafish-fails-to-generate-the-phenotype-of-classical-pompe-disease
#5
Jing Wu, Yi Yang, Chengjun Sun, Shaoyang Sun, Qiang Li, Yuxiao Yao, Fei Fei, Lingeng Lu, Zhuo Chang, Wenting Zhang, Xu Wang, Feihong Luo
The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. The presence of a Δ13 frameshift mutation in the gaa gene was confirmed at both the DNA and transcribed mRNA levels by Sanger sequencing...
January 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28039015/longitudinal-follow-up-to-evaluate-speech-disorders-in-early-treated-patients-with-infantile-onset-pompe-disease
#6
Yin-Ting Zeng, Wuh-Liang Hwu, Pao-Chuan Torng, Ni-Chung Lee, Jeng-Yi Shieh, Lu Lu, Yin-Hsiu Chien
BACKGROUND: Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. METHODS: Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28032299/new-mutations-and-genotype-phenotype-correlation-in-late-onset-pompe-patients
#7
Can Ebru Bekircan-Kurt, Hafize Nalan Güneş, F Gokcem Yildiz, Esen Saka, Ersin Tan, Sevim Erdem-Özdamar
Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two...
December 28, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28029334/patient-reported-outcomes-in-rare-lysosomal-storage-diseases-key-informant-interviews-and-a-systematic-review-protocol
#8
Patricia A Miller, Sohail M Mulla, Thomasin Adams-Webber, Yasmin Sivji, Gordon H Guyatt, Bradley C Johnston
OBJECTIVES: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II)...
December 28, 2016: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/28000772/improved-detection-of-circulating-tumor-cells-in-non-metastatic-high-risk-prostate-cancer-patients
#9
Andra Kuske, Tobias M Gorges, Pierre Tennstedt, Anne-Kathrin Tiebel, Raisa Pompe, Felix Preißer, Sandra Prues, Martine Mazel, Athina Markou, Evi Lianidou, Sven Peine, Catherine Alix-Panabières, Sabine Riethdorf, Burkhard Beyer, Thorsten Schlomm, Klaus Pantel
The relevance of blood-based assays to monitor minimal residual disease (MRD) in non-metastatic prostate cancer (PCa) remains unclear. Proving that clinically relevant circulating tumor cells (CTCs) can be detected with available technologies could address this. This study aimed to improve CTC detection in non-metastatic PCa patients by combining three independent CTC assays: the CellSearch system, an in vivo CellCollector and the EPISPOT. Peripheral blood samples from high-risk PCa patients were screened for CTCs before and three months after radical prostatectomy (RP)...
December 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27986587/the-utility-of-weight-loss-medications-after-bariatric-surgery-for-weight-regain-or-inadequate-weight-loss-a-multi-center-study
#10
Fatima Cody Stanford, Nasreen Alfaris, Gricelda Gomez, Elizabeth T Ricks, Alpana P Shukla, Kathleen E Corey, Janey S Pratt, Alfons Pomp, Francesco Rubino, Louis J Aronne
BACKGROUND: Patients who undergo bariatric surgery often have inadequate weight loss or weight regain. OBJECTIVES: We sought to discern the utility of weight loss pharmacotherapy as an adjunct to bariatric surgery in patients with inadequate weight loss or weight regain. SETTING: Two academic medical centers. METHODS: We completed a retrospective study to identify patients who had undergone bariatric surgery in the form of a Roux-en-Y gastric bypass (RYGB) or a sleeve gastrectomy from 2000-2014...
October 27, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/27986573/constructing-a-competency-based-bariatric-surgery-fellowship-training-curriculum
#11
Corrigan L McBride, Raul J Rosenthal, Stacy Brethauer, Eric DeMaria, John J Kelly, John M Morton, Emanuele Lo Menzo, Rachel Moore, Alfons Pomp, Ninh T Nguyen
BACKGROUND: Bariatric fellowship training after general surgery has historically been time based and competence was determined at completion based on a minimum number of cases during the fellowship. Graduate medical education is moving toward competency-based medical education where learners are evaluated during the course of their training and competence assessment occurs throughout. OBJECTIVES: The Executive Council of the American Society of Metabolic and Bariatric Surgery (ASMBS) at the direction of the American Board of Surgery wanted to transition the bariatric surgery fellowship curriculum from its traditional format to a competency-based curriculum using competency-based medical education principles...
October 31, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/27971310/a-cohort-study-to-access-the-impact-of-paediatric-use-of-proton-pomp-inhibitor-on-the-risk-of-community-acquired-infections-%C3%A3-%C3%A2-utopie
#12
M Luu, I LE Ray, M Bardou
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27965172/molecular-weight-specific-impact-of-soluble-and-immobilized-hyaluronan-on-cd44-expressing-melanoma-cells-in-3d-collagen-matrices
#13
Jiranuwat Sapudom, Franziska Ullm, Steve Martin, Liv Kalbitzer, Johanna Naab, Stephanie Möller, Matthias Schnabelrauch, Ulf Anderegg, Stephan Schmidt, Tilo Pompe
: Hyaluronan (HA) and its principal receptor CD44 are known to be involved in regulating tumor cell dissemination and metastasis. The direct correlation of CD44-HA interaction on proliferation and invasion of tumor cells in dependence on the molecular weight and the presentation form of HA is not fully understood because of lack of appropriate matrix models. To address this issue, we reconstituted 3D collagen (Coll I) matrices and functionalized them with HA of molecular weight of 30-50kDa (low molecular weight; LMW-HA) and 500-750kDa (high molecular weight; HMW-HA)...
December 10, 2016: Acta Biomaterialia
https://www.readbyqxmd.com/read/27931223/pattern-and-prognostic-value-of-cardiac-involvement-in-patients-with-late-onset-pompe-disease-a-comprehensive-cardiovascular-magnetic-resonance-approach
#14
Matthias Boentert, Anca Florian, Bianca Dräger, Peter Young, Ali Yilmaz
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified...
December 7, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27927596/quantification-of-muscle-pathology-in-infantile-pompe-disease
#15
Anne Schänzer, Ann-Kathrin Kaiser, Christian Mühlfeld, Martin Kulessa, Werner Paulus, Harald von Pein, Marianne Rohrbach, Lara Viergutz, Eugen Mengel, Thorsten Marquardt, Bernd Neubauer, Till Acker, Andreas Hahn
The effects of enzyme replacement therapy (ERT) in infantile Pompe disease are variable, necessitating the identification of biomarkers to assess the severity of disease and response to ERT. The aims of this study were to investigate whether quantification of muscle pathology in infantile Pompe disease prior to and during ERT is feasible at the light microscope, and to develop a score that summarizes the degree of muscle pathology in a comprehensive manner from PAS-stained resin sections alone. We, therefore, determined glycogen load, extent of muscle fibre disruption, and amount of autophagic vacuoles in resin-embedded muscle biopsy specimens from 11 infantile Pompe patients and 2 with early childhood phenotype by quantitative methods, correlated the findings with ultrastructural analyses, compared PAS-stained resin sections with conventional PAS-stained cryosections, and related the quantified degree of muscle damage from infantile patients to the effects of ERT...
November 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27924211/circulating-mir-126-and-mir-499-reflect-progression-of-cardiovascular-disease-correlations-with-uric-acid-and-ejection-fraction
#16
Masoud Khanaghaei, Fereshtah Tourkianvalashani, Seyedhossein Hekmatimoghaddam, Nasrin Ghasemi, Mahdi Rahaie, Vahid Khorramshahi, Akhtar Sheikhpour, Zahra Heydari, Fatemeh Pourrajab
BACKGROUND: The aim of this study was to assess plasma levels of endothelium- and heart-associated microRNAs (miRNAs) miR-126 and miR-499, respectively, using quantitative reverse transcriptase polymerase chain reaction. METHODS: A two-step analysis was conducted on 75 patients undergoing off-pomp coronary artery bypass graft (CABG) surgery. Five biomarkers of inflammation and cardiac injury were assessed in addition to the above-mentioned miRNAs. RESULTS: Plasma concentrations of miRNAs were found to be significantly correlated with plasma levels of cardiac troponin I (cTnI) (miR-499, r 0...
January 2016: Heart International
https://www.readbyqxmd.com/read/27907014/classification-and-verification-of-handwritten-signatures-with-time-causal-information-theory-quantifiers
#17
Osvaldo A Rosso, Raydonal Ospina, Alejandro C Frery
We present a new approach for handwritten signature classification and verification based on descriptors stemming from time causal information theory. The proposal uses the Shannon entropy, the statistical complexity, and the Fisher information evaluated over the Bandt and Pompe symbolization of the horizontal and vertical coordinates of signatures. These six features are easy and fast to compute, and they are the input to an One-Class Support Vector Machine classifier. The results are better than state-of-the-art online techniques that employ higher-dimensional feature spaces which often require specialized software and hardware...
2016: PloS One
https://www.readbyqxmd.com/read/27905293/long-term-exercise-in-mice-has-sex-dependent-benefits-on-body-composition-and-metabolism-during-aging
#18
Rachel C McMullan, Scott A Kelly, Kunjie Hua, Brian K Buckley, James E Faber, Fernando Pardo-Manuel de Villena, Daniel Pomp
Aging is associated with declining exercise and unhealthy changes in body composition. Exercise ameliorates certain adverse age-related physiological changes and protects against many chronic diseases. Despite these benefits, willingness to exercise and physiological responses to exercise vary widely, and long-term exercise and its benefits are difficult and costly to measure in humans. Furthermore, physiological effects of aging in humans are confounded with changes in lifestyle and environment. We used C57BL/6J mice to examine long-term patterns of exercise during aging and its physiological effects in a well-controlled environment...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27898093/corrigendum-to-from-cryptic-toward-canonical-pre-mrna-splicing-in-pompe-disease-a-pipeline-for-the-development-of-antisense-oligonucleotides
#19
(no author information available yet)
No abstract text is available yet for this article.
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#20
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
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