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https://www.readbyqxmd.com/read/29047158/hyper-cvad-plus-nelarabine-in-newly-diagnosed-adult-t-cell-acute-lymphoblastic-leukemia-and-t-lymphoblastic-lymphoma
#1
Yasmin Abaza, Hagop M Kantarjian, Stefan Faderl, Elias Jabbour, Nitin Jain, Deborah Thomas, Tapan Kadia, Gautam Borthakur, Joseph D Khoury, Jan Burger, William Wierda, Susan O'Brien, Marina Konopleva, Alessandra Ferrajoli, Partow Kebriaei, Bouthaina Dabaja, Steven Kornblau, Yesid Alvarado, Naval Daver, Naveen Pemmaraju, Prithviraj Bose, Philip Thompson, Hind Al Azzawi, Mary Kelly, Rebecca Garris, Preetesh Jain, Guillermo Garcia-Manero, Jorge Cortes, Farhad Ravandi
Nelarabine, a water soluble prodrug of 9-β-D-arabinofuranosylguanine (ara-G), is a T-cell specific purine nucleoside analogue. Given its activity in relapsed and refractory T acute lymphoblastic leukemia (T-ALL) and T lymphoblastic lymphoma (T-LBL), we sought to define its role in the frontline treatment of adult patients. Therefore, we conducted a single arm phase 2 study to determine the safety and efficacy of nelarabine in combination with hyper-CVAD in newly diagnosed patients. For induction/consolidation, patients received eight cycles of hyper-CVAD alternating with high-dose methotrexate and cytarabine plus two cycles of nelarabine given at a dose of 650 mg/m(2) intravenously daily for 5 days...
October 19, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29044175/a-skeletal-muscle-model-of-infantile-onset-pompe-disease-with-patient-specific-ips-cells
#2
Takeshi Yoshida, Tomonari Awaya, Tatsuya Jonouchi, Ryo Kimura, Shigemi Kimura, Takumi Era, Toshio Heike, Hidetoshi Sakurai
Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart. Patients with the severe type of the disease, infantile-onset Pompe disease (IOPD), show generalized muscle weakness and heart failure in early infancy. They cannot survive over two years. Enzyme replacement therapy with recombinant human GAA (rhGAA) improves the survival rate, but its effect on skeletal muscle is insufficient compared to other organs...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29022072/effect-of-pathological-high-risk-features-on-cancer-specific-mortality-in-non-metastatic-clear-cell-renal-cell-carcinoma-a-tool-for-optimizing-patient-selection-for-adjuvant-therapy
#3
Marco Bandini, Ariane Smith, Emanuele Zaffuto, Raisa S Pompe, Michele Marchioni, Umberto Capitanio, Felix K Chun, Anil B Kapoor, Shahrokh F Shariat, Francesco Montorsi, Alberto Briganti, Pierre I Karakiewicz
PURPOSE: Adjuvant therapies for non-metastatic renal cell carcinoma (nmRCC) are being tested to improve outcomes in patients with high-risk (hR) nmRCC. The objective of the current study is to test the ability of three hR features to identify patients who are at the highest risk of cancer-specific mortality (CSM) after partial or radical nephrectomy. METHODS: Within the Surveillance Epidemiology and End Results (SEER) database (1988-2013), we identified 23,632 nm "clear cell" RCC partial or radical nephrectomy patients with hR features: Fuhrman grade (FG) 3 or 4 or pathological classifications T3a or T3b or lymph node invasion (LNI), or combination of these...
October 11, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/29018835/-13-c-31-p-mrs-metabolic-biomarkers-of-disease-progression-and-response-to-aav-delivery-of-hgaa-in-a-mouse-model-of-pompe-disease
#4
Celine Baligand, Adrian G Todd, Brittany Lee-McMullen, Ravneet S Vohra, Barry J Byrne, Darin J Falk, Glenn A Walter
The development of therapeutic clinical trials for glycogen storage disorders, including Pompe disease, has called for non-invasive and objective biomarkers. Glycogen accumulation can be measured in vivo with (13)C MRS. However, clinical implementation remains challenging due to low signal-to-noise. On the other hand, the buildup of glycolytic intermediates may be detected with (31)P MRS. We sought to identify new biomarkers of disease progression in muscle using (13)C/(31)P MRS and (1)H HR-MAS in a mouse model of Pompe disease (Gaa(-/-))...
December 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29016506/contraception-and-conception-after-bariatric-surgery
#5
Marie N Menke, Wendy C King, Gretchen E White, Gabriella G Gosman, Anita P Courcoulas, Gregory F Dakin, David R Flum, Molly J Orcutt, Alfons Pomp, Walter J Pories, Jonathan Q Purnell, Kristine J Steffen, Bruce M Wolfe, Susan Z Yanovski
OBJECTIVE: To examine contraceptive practices and conception rates after bariatric surgery. METHODS: The Longitudinal Assessment of Bariatric Surgery-2 is a multicenter, prospective cohort study of adults undergoing first-time bariatric surgery as part of routine clinical care at 10 U.S. hospitals. Recruitment occurred between 2005 and 2009. Participants completed preoperative and annual postsurgical assessments for up to 7 years until January 2015. This report was restricted to women 18-44 years old with no history of menopause, hysterectomy, or estrogen and progesterone therapy...
October 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28972689/late-onset-pompe-s-disease-in-a-hemodialysis-patient-a-first-case-report
#6
Theodoros Eleftheriadis, Panagiota Makri, Paschalia Karakosta, Georgios Pissas, Vassilios Liakopoulos, Helen Michelakakis, Georgios M Hadjigeorgiou, Ioannis Stefanidis
A 37-year-old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After exclusion of other causes of restrictive lung disease with chest CT-scan and cerebrum MRI, electrophysiological study revealed myopathy. Because besides lordosis and limb-girdle gait the patient was ambulant the possibility of late-onset Pompe's disease was set and confirmed with evaluation of α-glucosidase activity and genetic analysis...
October 3, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28964696/factor-viii-elevation-may-contribute-to-portomesenteric-vein-thrombosis-after-laparoscopic-sleeve-gastrectomy-a-multicenter-review-of-40-patients
#7
Manish Parikh, Andrew Adelsheimer, Eduardo Somoza, John K Saunders, Akuezunkpa Ude Welcome, Patricia Chui, Christine Ren-Fielding, Marina Kurian, George Fielding, Ajay Chopra, Richie Goriparthi, Mitchell Roslin, Che Afaneh, Alfons Pomp, Edward Chin, H Leon Pachter
BACKGROUND: Portomesenteric vein thrombosis (PMVT) has been increasingly reported after laparoscopic sleeve gastrectomy (LSG). Factor VIII (FVIII) is a plasma sialoglycoprotein that plays an essential role in hemostasis. There is increasing evidence that FVIII elevation constitutes a clinically important risk factor for venous thrombosis. OBJECTIVES: To report the prevalence of FVIII elevation as well as other clinical characteristics in a multicenter series of patients who developed PMVT after LSG...
August 30, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28960524/solvent-assisted-micromolding-of-biohybrid-hydrogels-to-maintain-human-hematopoietic-stem-and-progenitor-cells-ex-vivo
#8
Eike Müller, Tilo Pompe, Uwe Freudenberg, Carsten Werner
Array-format cell-culture carriers providing tunable matrix cues are instrumental in current cell biology and bioengineering. A new solvent-assisted demolding approach for the fabrication of microcavity arrays with very small feature sizes down to single-cell level (3 µm) of very soft biohybrid glycosaminoglycan-poly(ethylene glycol) hydrogels (down to a shear modulus of 1 kPa) is reported. It is further shown that independent additional options of localized conjugation of adhesion ligand peptides, presentation of growth factors through complexation to gel-based glycosaminoglycans, and secondary gel deposition for 3D cell embedding enable a versatile customization of the hydrogel microcavity arrays for cell culture studies...
September 28, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28951071/insight-into-the-phenotype-of-infants-with-pompe-disease-identified-by-newborn-screening-with-the-common-c-32-13t-g-late-onset-gaa-variant
#9
Mugdha V Rairikar, Laura E Case, Lauren A Bailey, Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, Julie Coats, Rachel Gandy, Rebecca Quinones, Priya S Kishnani
OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in 68-90% cases with LOPD and has been presumed to result in "adult" disease in compound heterozygosity, with a few cases with earlier onset and a mild to no phenotype in homozygosity. Our study evaluates newborns with LOPD having IVS variant with a diligent multidisciplinary approach to determine if they have an early presentation...
September 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28950499/using-missing-ordinal-patterns-to-detect-nonlinearity-in-time-series-data
#10
Christopher W Kulp, Luciano Zunino, Thomas Osborne, Brianna Zawadzki
The number of missing ordinal patterns (NMP) is the number of ordinal patterns that do not appear in a series after it has been symbolized using the Bandt and Pompe methodology. In this paper, the NMP is demonstrated as a test for nonlinearity using a surrogate framework in order to see if the NMP for a series is statistically different from the NMP of iterative amplitude adjusted Fourier transform (IAAFT) surrogates. It is found that the NMP works well as a test statistic for nonlinearity, even in the cases of very short time series...
August 2017: Physical Review. E
https://www.readbyqxmd.com/read/28942009/comparison-of-11-active-surveillance-protocols-in-contemporary-european-men-treated-with-radical-prostatectomy
#11
Sami-Ramzi Leyh-Bannurah, Pierre I Karakiewicz, Paolo Dell'Oglio, Alberto Briganti, Jonas Schiffmann, Raisa S Pompe, Guido Sauter, Thorsten Schlomm, Hans Heinzer, Hartwig Huland, Markus Graefen, Lars Budäus
BACKGROUND: The aim of this study was to compare 11 active surveillance (AS) protocols in contemporary European men treated with radical prostatectomy (RP) at the Martini-Clinic Prostate Cancer Center. PATIENTS AND METHODS: Analyzed were 3498 RP patients, from 2005 to 2016, who underwent ≥ 10 core biopsies and fulfilled at least 1 of 11 examined AS entry definitions. We tested proportions of AS eligibility, ineligibility, presence of primary Gleason 4/5, upstage, and combinations thereof at RP, as well as 5-year biochemical recurrence-free survival (BFS)...
August 31, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28940649/the-impact-of-lymph-node-dissection-and-positive-lymph-nodes-on-cancer-specific-mortality-in-contemporary-pt2-3-non-metastatic-renal-cell-carcinoma-treated-with-radical-nephrectomy
#12
Michele Marchioni, Marco Bandini, Raisa S Pompe, Tristan Martel, Zhe Tian, Shahrokh F Shariat, Anil Kapoor, Luca Cindolo, Alberto Briganti, Luigi Schips, Umberto Capitanio, Pierre I Karakiewicz
OBJECTIVE: To assess the effect of lymph node dissection (LND), number of removed nodes (NRN), and number of positive nodes (NPN), on cancer-specific mortality (CSM) in contemporary vs historical patients with pT2-3 Nany M0 renal cell carcinoma (RCC) treated with radical nephrectomy (RN). PATIENTS AND METHODS: Within the Surveillance, Epidemiology, and End Results database (2001-2013), we identified patients with non-metastatic pT2-3 Nany RCC who underwent RN with or without LND...
September 20, 2017: BJU International
https://www.readbyqxmd.com/read/28936859/using-the-acs-nsqip-surgical-risk-calculator-for-surgical-education-and-quality-improvement
#13
Jonathan S Abelson, Heather L Yeo, Alfons Pomp, David Fehling, Fabrizio Michelassi
No abstract text is available yet for this article.
December 2016: Bulletin of the American College of Surgeons
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#14
REVIEW
Mette Cathrine Ørngreen, John Vissing
Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options...
September 21, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28932952/survival-of-metastatic-renal-cell-carcinoma-patients-continues-to-improve-over-time-even-in-targeted-therapy-era
#15
Michele Marchioni, Marco Bandini, Raisa S Pompe, Zhe Tian, Tristan Martel, Anil Kapoor, Luca Cindolo, Francesco Berardinelli, Alberto Briganti, Shahrokh F Shariat, Luigi Schips, Pierre I Karakiewicz
OBJECTIVE: To examine the effect of diagnosis year, defined as contemporary (2010-2014), intermediate (2006-2009) and historical (2001-2005) on cancer-specific mortality (CSM) in patients with metastatic renal cell carcinoma (mRCC). METHODS: Within Surveillance, Epidemiology, and End Results registry (2001-2014), we identified patients with mRCC. Cumulative incidence and competing risks regression (CRR) models examined CSM, after accounting for other-cause mortality...
September 20, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28925476/late-onset-pompe-disease-in-a-54-year-old-sportsman-with-an-episode-of-syncope-a-case-report
#16
M Walczak-Galezewska, D Skrypnik, M Szulinska, K Musialik, K Skrypnik, P Bogdanski
Pompe disease is an extra-rare metabolic storage disease with deficiency of acid-alpha-glucosidase (GAA) enzyme activity, which leads to the pathologic accumulation of glycogen in target tissues (skeletal muscles, heart, brain). Clinical features and severity vary by the age of onset, rate of extent of organ involvement. In the late-onset Pompe disease (LOPD) form, essential cardiomyopathy seems to be uncommon. Muscles weakness and respiratory failure are the main symptoms of adult patient with Pompe disease...
August 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28916633/systems-genetics-identifies-a-co-regulated-module-of-liver-micrornas-associated-with-plasma-ldl-cholesterol-in-murine-diet-induced-dyslipidemia
#17
Alisha R Coffey, Tangi L Smallwood, Jody Albright, Kunjie Hua, Matt Kanke, Daniel Pomp, Brian J Bennett, Praveen Sethupathy
Chronically altered levels of circulating lipids, termed dyslipidemia, is a significant risk factor for a number of metabolic and cardiovascular morbidities. MicroRNAs (miRNAs) have emerged as important regulators of lipid balance, have been implicated in dyslipidemia, and have been proposed as candidate therapeutic targets in lipid-related disorders including atherosclerosis. A major limitation of most murine studies of miRNAs in lipid metabolic disorders is that they have been performed in just one (or very few) inbred strains, such as C57BL/6...
September 15, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#18
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28900456/identification-a-novel-mononucleotide-deletion-mutation-in-gaa-in-pompe-disease-patients
#19
Milad Ebrahimi, Mahdieh Behnam, Nafiseh Behranvand-Jazi, Ladan Yari, Sajad Sheikh-Kanlomilan, Mansoor Salehi, Pardis Tahmasebi, Mohaddeseh Amini, Mohaddeseh Behjati, Nafisehsadat Hosseini
BACKGROUND: Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives. MATERIALS AND METHODS: In this cross-sectional study, GAA enzyme activity assay was assessed using tandem mass spectrometry. Polymerase chain reaction and Sanger sequencing were performed for GAA analysis. RESULTS: GAA enzyme activity was significantly decreased in patients compared to the normal range (P = 0...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28895054/a-neuron-specific-gene-therapy-relieves-motor-deficits-in-pompe-disease-mice
#20
Ni-Chung Lee, Wuh-Liang Hwu, Shin-Ichi Muramatsu, Darin J Falk, Barry J Byrne, Chia-Hao Cheng, Nien-Chu Shih, Kai-Ling Chang, Li-Kai Tsai, Yin-Hsiu Chien
In Pompe disease, deficient lysosomal acid α-glucosidase (GAA) activity causes glycogen accumulation in the muscles, which leads to weakness, cardiomyopathy, and respiratory failure. Although glycogen accumulation also occurs in the nervous system, the burden of neurological deficits in Pompe disease remains obscure. In this study, a neuron-specific gene therapy was administered to Pompe mice through intracerebroventricular injection of a viral vector carrying a neuron-specific promoter. The results revealed that gene therapy increased GAA activity and decreased glycogen content in the brain and spinal cord but not in the muscles of Pompe mice...
September 11, 2017: Molecular Neurobiology
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