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https://www.readbyqxmd.com/read/29155861/pancreatic-exocrine-insufficiency-in-patients-with-chronic-heart-failure-and-its-possible-association-with-appetite-loss
#1
Tingting Xia, Xichen Chai, Jiaqing Shen
BACKGROUND: Appetite loss is one complication of chronic heart failure (CHF), and its association with pancreatic exocrine insufficiency (PEI) is not well investigated in CHF. AIM: We attempted to detect the association between PEI and CHF-induced appetite. METHODS: Patients with CHF were enrolled, and body mass index (BMI), left ventricular ejection fraction (LVEF), New York Heart Association (NYHA) cardiac function grading, B-type natriuretic peptide (BNP), serum albumin, pro-albumin and hemoglobin were evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/29155436/enzyme-replacement-therapy-for-infantile-onset-pompe-disease
#2
REVIEW
Min Chen, Lingli Zhang, Shuyan Quan
BACKGROUND: Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Current treatment involves enzyme replacement therapy (with recombinant human alglucosidase alfa) and symptomatic therapies (e.g. to control secretions). Children who are cross-reactive immunological material (CRIM)-negative require immunomodulation prior to commencing enzyme replacement therapy.Enzyme replacement therapy was developed as the most promising therapeutic approach for Pompe disease; however, the evidence is lacking, especially regarding the optimal dose and dose frequency...
November 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#3
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29147032/emptying-the-stores-lysosomal-diseases-and-therapeutic-strategies
#4
REVIEW
Frances M Platt
Lysosomal storage disorders (LSDs) - designated as 'orphan' diseases - are inborn errors of metabolism caused by defects in genes that encode proteins involved in various aspects of lysosomal homeostasis. For many years, LSDs were viewed as unattractive targets for the development of therapies owing to their low prevalence. However, the development and success of the first commercial biologic therapy for an LSD - enzyme replacement therapy for type 1 Gaucher disease - coupled with regulatory incentives rapidly catalysed commercial interest in therapeutically targeting LSDs...
November 17, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29145707/relationship-between-testosterone-in-serum-saliva-and-urine-during-treatment-with-intramuscular-testosterone-undecanoate-in-gender-dysphoria-and-male-hypogonadism
#5
Y Lood, E Aardal-Eriksson, C Webe, J Ahlner, B Ekman, J Wahlberg
Long-term testosterone replacement therapy is mainly monitored by trough levels of serum testosterone (S-T), while urinary testosterone (U-T) is used by forensic toxicology to evaluate testosterone doping. Testosterone in saliva (Sal-T) may provide additional information and simplify the sample collection. We aimed to investigate the relationships between testosterone measured in saliva, serum and urine during standard treatment with 1,000 mg testosterone undecanoate (TU) every 12th week during 1 year. This was an observational study...
November 16, 2017: Andrology
https://www.readbyqxmd.com/read/29141657/local-estrogen-axis-in-the-human-bone-microenvironment-regulates-estrogen%C3%A2-receptor-positive%C3%A2-breast-cancer-cells
#6
Derek F Amanatullah, John S Tamaresis, Pauline Chu, Michael H Bachmann, Nhat M Hoang, Deborah Collyar, Aaron T Mayer, Robert B West, William J Maloney, Christopher H Contag, Bonnie L King
BACKGROUND: Approximately 70% of all breast cancers express the estrogen receptor, and are regulated by estrogen. While the ovaries are the primary source of estrogen in premenopausal women, most breast cancer is diagnosed following menopause, when systemic levels of this hormone decline. Estrogen production from androgen precursors is catalyzed by the aromatase enzyme. Although aromatase expression and local estrogen production in breast adipose tissue have been implicated in the development of primary breast cancer, the source of estrogen involved in the regulation of estrogen receptor-positive (ER+) metastatic breast cancer progression is less clear...
November 15, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29137169/pancreatic-exocrine-insufficiency-after-bariatric-surgery
#7
REVIEW
Miroslav Vujasinovic, Roberto Valente, Anders Thorell, Wiktor Rutkowski, Stephan L Haas, Urban Arnelo, Lena Martin, J-Matthias Löhr
Morbid obesity is a lifelong disease, and all patients require complementary follow-up including nutritional surveillance by a multidisciplinary team after bariatric procedures. Pancreatic exocrine insufficiency (PEI) refers to an insufficient secretion of pancreatic enzymes and/or sodium bicarbonate. PEI is a known multifactorial complication after upper gastrointestinal surgery, and might constitute an important clinical problem due to the large number of bariatric surgical procedures in the world. Symptoms of PEI often overlap with sequelae of gastric bypass, making the diagnosis difficult...
November 13, 2017: Nutrients
https://www.readbyqxmd.com/read/29137040/a-multicenter-open-label-phase-iii-study-of-abcertin-in-gaucher-disease
#8
Beom Hee Lee, Ahmed Fathy Abdalla, Jin-Ho Choi, Amal El Beshlawy, Gu-Hwan Kim, Sun Hee Heo, Ahmed Megahed Hassan Megahed, Mona Abdel Latif Elsayed, Tarik El-Sayed Mohammad Barakat, Khaled Mohamed Abd El-Azim Eid, Mona Hassan El-Tagui, Mona Mohamed Hamdy Mahmoud, Ekram Fateen, June-Young Park, Han-Wook Yoo
BACKGROUND: Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement. METHODS: The efficacy and safety of a new imiglucerase, Abcertin, were assessed in 7 Egyptian patients with treatment-naïve type 1 GD. Each patient was administered a biweekly 60 U/kg dose of Abcertin for 6 months. The primary endpoint was the change in hemoglobin concentration. The secondary endpoints were changes from baseline in platelet counts, spleen and liver volumes, biomarker levels, skeletal parameters, and bone mineral density...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29125171/nanomechanical-clinical-coagulation-diagnostics-and-monitoring-of-therapies
#9
Francesco Padovani, James Duffy, Martin Hegner
Clinical coagulation diagnostics often requires multiple tests. Coagulation times are a first indication of an abnormal coagulation process, such as a coagulation factor deficiency. To determine the specific deficient factor, additional immuno- and/or enzyme assays are necessary. Currently, every clinical laboratory has to normalize their assays (international normalized ratio, INR), and therefore, certain variability within the clinical analytics exists. We report a novel strategy for a quick, reliable and quantitative diagnosis of blood coagulation diseases (e...
November 10, 2017: Nanoscale
https://www.readbyqxmd.com/read/29124521/successful-peritoneal-dialysis-using-a-percutaneous-tube-for-peritoneal-drainage-in-an-extremely-low-birth-weight-infant-a-case-report
#10
Satoshi Yokoyama, Takayuki Nukada, Yuka Ikeda, Shigeto Hara, Akira Yoshida
BACKGROUND: Peritoneal dialysis (PD) for acute kidney injury (AKI) of newborns has been performed safely. AKI occurs in 8 to 24% of extremely low birth weight (ELBW) infants. Although PD has only been used occasionally in ELBW infants, prognosis is poor for ELBW infants with AKI. Several reports have described successful PD in these infants, but no guideline-based evidence concerning indications for renal replacement therapy in ELBW infants are currently available. Here, we report on our experience with PD in an ELBW infant with AKI resulting from septic shock...
November 9, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/29123570/cyclophosphamide-and-regional-citrate-anticoagulation-a-sour-combination
#11
Tim Hendra, Jonathan Simon, Alastair Lowe
We present a case of a woman in her 70 s, on cyclophosphamide for multiple myeloma, who was admitted to critical care with grade III acute kidney injury. Renal replacement therapy with regional citrate anticoagulation was commenced. Shortly thereafter her systemic-ionised calcium levels fell and remained stubbornly low until post-filter calcium return was doubled. Her total-to-ionised calcium ratio gradually increased and so, to avoid further accumulation of citrate, anticoagulation was changed to heparin...
November 2017: J Intensive Care Soc
https://www.readbyqxmd.com/read/29122469/sensitivity-of-whole-exome-sequencing-in-detecting-infantile-and-late-onset-pompe-disease
#12
Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M DeArmey, Jennifer L Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T Cirulli, Priya S Kishnani
Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replacement therapy hinges on early diagnosis, which is challenging in late-onset form of the disease due to non-specific presentation. Next-generation sequencing-based panels effectively facilitate diagnosis, but the sensitivity of whole-exome sequencing (WES) in detecting pathogenic GAA variants remains unknown...
October 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29121057/trafficking-and-processing-of-bacterial-proteins-by-mammalian-cells-insights-from-chondroitinase-abc
#13
Elizabeth Muir, Mansoor Raza, Clare Ellis, Emily Burnside, Fiona Love, Simon Heller, Matthew Elliot, Esther Daniell, Debayan Dasgupta, Nuno Alves, Priscilla Day, James Fawcett, Roger Keynes
BACKGROUND: There is very little reported in the literature about the relationship between modifications of bacterial proteins and their secretion by mammalian cells that synthesize them. We previously reported that the secretion of the bacterial enzyme Chondroitinase ABC by mammalian cells requires the strategic removal of at least three N-glycosylation sites. The aim of this study was to determine if it is possible to enhance the efficacy of the enzyme as a treatment for spinal cord injury by increasing the quantity of enzyme secreted or by altering its cellular location...
2017: PloS One
https://www.readbyqxmd.com/read/29120015/ascending-aortic-remodelling-in-fabry-disease-after-long-term-enzyme-replacement-therapy
#14
Pierre Monney, Salah Dine Qanadli, Steven Hajdu, Christel Tran, Juerg Schwitter, Olivier Dormond, Frédéric Barbey
BACKGROUND: Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors. AIMS OF THE STUDY: To characterise the remodelling of the ascending aorta in classic Fabry disease under long-term enzyme replacement therapy. METHODS: Diameter of the ascending aorta was measured with magnetic resonance imaging at the sino-tubular junction (STJ), and proximal (pAsAo), and distal ascending aorta (dAsAo) at baseline, and after 5 and 10 years of enzyme replacement therapy in 15 adult Fabry patients (10 males; 5 females)...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29119939/mannose-binding-lectin-protein-deficiency-among-patients-with-primary-immunodeficiency-disease-receiving-ivig-therapy
#15
Gholamreza Azizi, Fatemeh Kiaee, Naeimeh Tavakolinia, Hosein Rafiemanesh, Sara Mohammadikhajehdehi, Laleh Sharifi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of the immune system are defective. Immunoglobulin replacement therapy is the mainstay of treatment for patients with impaired antibody production. However, recurrent infections would continue to occur in some patients due to the other high frequent concomitant defects such as mannose-binding lectin (MBL) deficiency. METHODS: A total of 51 PID patients participated in this cross-sectional study...
November 7, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29119347/n-glycan-structures-and-downstream-mannose-phosphorylation-of-plant-recombinant-human-alpha-l-iduronidase-toward-development-of-enzyme-replacement-therapy-for-mucopolysaccharidosis-i
#16
Owen M Pierce, Grant R McNair, Xu He, Hiroyuki Kajiura, Kazuhito Fujiyama, Allison R Kermode
Arabidopsis N-glycan processing mutants provide the basis for tailoring recombinant enzymes for use as replacement therapeutics to treat lysosomal storage diseases, including N-glycan mannose phosphorylation to ensure lysosomal trafficking and efficacy. Functional recombinant human alpha-L-iduronidase (IDUA; EC 3.2.1.76) enzymes were generated in seeds of the Arabidopsis thaliana complex-glycan-deficient (cgl) C5 background, which is deficient in the activity of N-acetylglucosaminyl transferase I, and in seeds of the Arabidopsis gm1 mutant, which lacks Golgi α-mannosidase I (GM1) activity...
November 8, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/29117951/long-term-benefit-of-enzyme-replacement-therapy-in-pompe-disease-a-5-year-prospective-study
#17
Esther Kuperus, Michelle E Kruijshaar, Stephan C A Wens, Juna M de Vries, Marein M Favejee, Jan C van der Meijden, Dimitris Rizopoulos, Esther Brusse, Pieter A van Doorn, Ans T van der Ploeg, Nadine A M E van der Beek
OBJECTIVE: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease. METHODS: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT...
November 8, 2017: Neurology
https://www.readbyqxmd.com/read/29116375/uncoupling-n-acetylaspartate-from-brain-pathology-implications-for-canavan-disease-gene-therapy
#18
Georg von Jonquieres, Ziggy H T Spencer, Benjamin D Rowlands, Claudia B Klugmann, Andre Bongers, Anne E Harasta, Kristina E Parley, Jennie Cederholm, Orla Teahan, Russell Pickford, Fabien Delerue, Lars M Ittner, Dominik Fröhlich, Catriona A McLean, Anthony S Don, Miriam Schneider, Gary D Housley, Caroline D Rae, Matthias Klugmann
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform leukodystrophy has not met expectations. To identify the target tissue and cells for maximum anticipated treatment benefit, we employed comprehensive phenotyping of novel mouse models to assess cell type-specific consequences of NAA depletion or elevation...
November 7, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29112487/pharmacotherapy-for-angiotensin-converting-enzyme-inhibitor-induced-angioedema-a-systematic-review
#19
Claire M Lawlor, Ashwin Ananth, Blair M Barton, Thomas C Flowers, Edward D McCoul
Objective Angioedema is a potentially life-threatening complication of angiotensin-converting enzyme inhibitor (ACEI) use, occurring in up to 0.5% of users. Although the pathophysiology of ACEI-induced angioedema is attributable to elevated serum bradykinin, standard management typically includes corticosteroids and antihistamines. We sought to summarize the evidence supporting pharmacotherapy for ACEI-induced angioedema. Data Sources PubMed, MEDLINE, and Embase portals. Methods A systematic literature review was conducted according to the PRISMA guidelines...
November 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29111890/polyethylene-glycol-b-poly-lactic-acid-polymersomes-as-vehicles-for-enzyme-replacement-therapy
#20
Jessica M Kelly, Amanda L Gross, Douglas R Martin, Mark E Byrne
AIM: Polymersomes are created to deliver an enzyme-based therapy to the brain in lysosomal storage disease patients. MATERIALS & METHODS: Polymersomes are formed via the injection method using poly(ethylene glycol)-b-poly(lactic acid) (PEGPLA) and bound to apolipoprotein E, to create a brain-targeted delivery vehicle. RESULTS: Polymersomes have a smallest average diameter of 145 ± 21 nm and encapsulate β-galactosidase at 72.0 ± 12...
November 7, 2017: Nanomedicine
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