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https://www.readbyqxmd.com/read/28433478/investigation-on-acute-effects-of-enzyme-replacement-therapy-and-influence-of-clinical-severity-on-physiological-variables-related-to-exercise-tolerance-in-patients-with-late-onset-pompe-disease
#1
Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, Nicole Bertin, Andrea Dardis, Silvia Cattarossi, Grazia Devigili, Federico Reccardini, Bruno Bembi, Bruno Grassi
Exercise intolerance is one of the clinical hallmarks of late-onset Pompe disease (LOPD). We studied the acute effects of ERT on the physiological variables associated with exercise tolerance in patients chronically ERT treated. Moreover, we assessed the influence of clinical severity on the investigated variables. The day before (B) and the day after (A) ERT injection, 11 LOPD patients performed on a cycle-ergometer an exercise tolerance test to voluntary exhaustion; VO2, HR, RPE, and GAA activity were determined in B and A...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28430167/induced-pluripotent-stem-cell-modeling-of-gaucher-s-disease-what-have-we-learned
#2
REVIEW
Dino Matias Santos, Gustavo Tiscornia
Gaucher's disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid β-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatment options are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). However, neither of these approaches is effective in treating the neurological aspect of the disease. The use of small pharmacological compounds that act as molecular chaperones is a promising approach that is still experimental...
April 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28429149/a-spiking-strategy-facilitates-housekeeping-selection-for-rt-qpcr-analysis-under-different-biotic-stresses-in-eggplant
#3
Valeria Barbierato, Tea Sala, Paola Rinaldi, Laura Bassolino, Lorenzo Barchi, Giuseppe Leonardo Rotino, Laura Toppino
Endogenous housekeeping genes are traditionally employed to normalize the expression of target genes in RT-qPCR studies. Assuming that a perfect housekeeping suitable for every condition does not exist, expression stability of the chosen reference gene should be evaluated at every new experiment. The housekeeping selection process reveals furthermore complicated and time-consuming when different conditions have to be compared in the same experimental dataset. As an alternative strategy, we spiked an external reference transcript (ERT) into all RNA samples of our dataset (eggplant roots subjected to different biotic stresses), and used it to normalize the expression levels of native candidate housekeeping...
April 21, 2017: Protoplasma
https://www.readbyqxmd.com/read/28428639/obestatin-stimulates-glucose-induced-insulin-secretion-through-ghrelin-receptor-ghs-r
#4
Geetali Pradhan, Chia-Shan Wu, Jong Han Lee, Preeti Kanikarla, Shaodong Guo, Vijay K Yechoor, Susan L Samson, Yuxiang Sun
Orexigenic hormone ghrelin and anorexic hormone obestatin are encoded by the same preproghrelin gene. While it is known that ghrelin inhibits glucose-stimulated insulin secretion (GSIS), the effect of obestatin on GSIS is unclear. Ghrelin's effect is mediated by its receptor Growth Hormone Secretagogue Receptor (GHS-R), but the physiologically relevant receptor of obestatin remains debatable. Here we have investigated the effect of obestatin on GSIS in vitro, in vivo and ex vivo, and tested whether obestatin regulates insulin secretion through GHS-R...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28425458/anatomy-of-terminal-moraine-segments-and-implied-lake-stability-on-ngozumpa-glacier-nepal-from-electrical-resistivity-tomography-ert
#5
Sarah S Thompson, Bernd Kulessa, Douglas I Benn, Jordan R Mertes
Moraine-dammed lakes at debris-covered glaciers are becoming increasingly common and pose significant outburst flood hazards if the dam is breached. While moraine subsurface structure and internal processes are likely to influence dam stability, only few sites have so far been investigated. We conducted electrical resistivity tomography (ERT) surveys at two sites on the terminal moraine complex of the Ngozumpa Glacier, Nepal, to aid assessment of future terminus stability. The resistivity signature of glacier ice at the site (100-15 kΩ m) is more consistent with values measured from cold glacier ice and while this may be feasible, uncertainties in the data inversion introduce ambiguity to this thermal interpretation...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422341/late-pubertal-growth-spurt-in-a-girl-with-growth-hormone-deficiency-is-kaufmann-therapy-effective-in-a-girl-with-short-stature-who-responds-poorly-to-growth-hormone-therapy-and-estrogen-replacement-therapy
#6
Katsuhiko Yasuda
A Japanese senior high school girl aged 18 years and 5 months with growth hormone deficiency was referred for primary amenorrhea. Her height was 1.36 m, and her bodyweight was 23.5 kg. She had received daily growth hormone therapy from the age of 5 years. Growth hormone therapy was discontinued at the age of 16 years and 11 months, and estrogen-replacement therapy (ERT) was started to stimulate secondary sexual characteristics. Although ERT was performed until the age of 18 years and 11 months, genital bleeding did not occur...
April 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28413493/tgf-%C3%AE-1-and-timp1-double-directional-raav-targeted-by-utmd-in-atherosclerotic-vulnerable-plaque
#7
Yijin Su, Changsong Xu, Kunyu Li, Bo Wang, Jufang Chen, Long Liu, Lizhou Lin, Qingqing Dong, Lianfang Du
In the present study, we determined whether ultrasound-targeted microbubble destruction (UTMD) combined with dual targeting of transforming growth factor (TGF)-β1 and tissue inhibitors of metalloproteinase (TIMP) 1 recombinant adeno-associated virus (rAAV) can stabilize atherosclerotic vulnerable plaques. First, we used rabbit model to detect the TGF-β1/TIMP1 virus therapy result. H&E staining was used to evaluate the tissues. The protein levels of TGF-β1 and TIMP1 were detected in rabbit models. The THP-1 cells were induced into macrophages, and transfected with TGF-β1 and TIMP1 rAAV under optimized UTMD...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28410878/efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-a-systematic-review-and-meta-analysis
#8
Jordi Pérez-López, Montserrat Morales-Conejo, Mónica López-Rodríguez, Álvaro Hermida-Ameijeiras, Marc Moltó-Abad
BACKGROUND: The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile from a clinical point of view. OBJECTIVE: To assess every effectiveness variable modified in MPS-I patients who initiated laronidase at adult age. METHODS: A systematic search of the literature, from inception to July 2016, was conducted using MEDLINE, EMBASE, CENTRAL and LILACS to identify randomized trials or observational studies including ≥1 MPS-I patients with ERT initiated in adult age (≥18years) and evaluating ERT efficacy...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28409408/spontaneous-recombinase-activity-of-cre-ert2-in-vivo
#9
Jasmin Kristianto, Michael G Johnson, Ryley K Zastrow, Abigail B Radcliff, Robert D Blank
Inducible Cre-ERT recombinase technology is widely used for gene targeting studies. The second generation of inducible Cre-ERT recombinase, hemizygous B6.129S-Tg(UBC-cre/ERT2)1Ejb/J (hereafter abbreviated as Cre-ERT2), a fusion of a mutated estrogen receptor and Cre recombinase, was engineered to be more efficient and specific than the original Cre-ERT. The putative mechanism of selective Cre-mediated recombination is Cre sequestration in the cytoplasm in the basal state with translocation to the nucleus only in the presence of tamoxifen...
April 13, 2017: Transgenic Research
https://www.readbyqxmd.com/read/28403472/smoking-cessation-for-pregnant-smokers-development-and-pilot-test-of-an-emotion-regulation-treatment-supplement-to-standard-smoking-cessation-for-negative-affect-smokers
#10
Clara M Bradizza, Paul R Stasiewicz, Yue Zhuo, Melanie Ruszczyk, Stephen A Maisto, Joseph F Lucke, Thomas H Brandon, Rina D Eiden, Kim S Slosman, Paulette Giarratano
Introduction: Negative affect has been identified as a factor influencing continued smoking during pregnancy. In this study, a multi-component emotion regulation intervention was developed to address negative emotional smoking triggers and pilot-tested among low-income pregnant smokers. Treatment feasibility and acceptability, cotinine-verified rates of smoking cessation, and self-report of mean cigarettes smoked were assessed. Methods: Pregnant smokers who self-reported smoking in response to negative affect (N = 70) were randomly assigned to receive one of two 8-session interventions: (1) emotion regulation treatment combined with standard cognitive-behavioral smoking cessation (ERT + CBT) or (2) a health and lifestyle plus standard smoking cessation active control (HLS + CBT)...
May 1, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28401930/nanomechanics-of-individual-aerographite-tetrapods
#11
Raimonds Meija, Stefano Signetti, Arnim Schuchardt, Kerstin Meurisch, Daria Smazna, Matthias Mecklenburg, Karl Schulte, Donats Erts, Oleg Lupan, Bodo Fiedler, Yogendra Kumar Mishra, Rainer Adelung, Nicola M Pugno
Carbon-based three-dimensional aerographite networks, built from interconnected hollow tubular tetrapods of multilayer graphene, are ultra-lightweight materials recently discovered and ideal for advanced multifunctional applications. In order to predict the bulk mechanical behaviour of networks it is very important to understand the mechanics of their individual building blocks. Here we characterize the mechanical response of single aerographite tetrapods via in situ scanning electron and atomic force microscopy measurements...
April 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/28394184/clinical-and-molecular-characterization-of-infantile-onset-pompe-disease-in-mainland-chinese-patients-identification-of-two-common-mutations
#12
Xi Chen, Tingliang Liu, Meirong Huang, Jinjin Wu, Junxue Zhu, Ying Guo, Xinyi Xu, Fen Li, Jian Wang, Lijun Fu
AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1...
April 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28391638/construction%C3%A2-of-er-3-yalo3-rgo-tio2-hybrid-electrode-with%C3%A2-enhanced%C3%A2-photoelectrocatalytic%C3%A2-performance%C3%A2-in-methylene%C3%A2-blue%C3%A2-degradation%C3%A2-under%C3%A2-visible%C3%A2-light
#13
Xian Zhou, Jun Zhang, Yue Ma, Hanqing Cheng, Shaozhu Fu, Dandan Zhou, Shuangshi Dong
Much attention has been paid on doping TiO2 to narrow its band gap to promote the absorption of visible light and restrain the recombination of electron-hole pairs to improve its efficiency in photoelectrocatalysis (PEC) under visible light irradiation. However, the oxidation potential energy of photo-induced holes for the modified catalysts by visible light excitation is lower than that without modification by UV excitation. In this work, we synthesized a co-coupled TiO2 electrode (denoted ERT) with the Er(3+) :YAlO3 and reduced graphene oxide (RGO), achieving the synergetic effect of visible-light-to-UV up conversion and response and great electron transfer ability...
April 9, 2017: Photochemistry and Photobiology
https://www.readbyqxmd.com/read/28389479/characterization-of-drosophila-saposin-related-mutants-as-a-model-for-lysosomal-sphingolipid-storage-diseases
#14
Julia Sellin, Heike Schulze, Marie Paradis, Dominic Gosejacob, Cyrus Papan, Andrej Shevchenko, Olympia Ekaterina Psathaki, Achim Paululat, Melanie Thielisch, Konrad Sandhoff, Michael Hoch
Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs), which are characterized by the accumulation of indigestible material in the lysosome caused by specific defects in the lysosomal degradation machinery. While some LSDs can be efficiently treated by enzyme replacement therapy (ERT), this is not possible if the nervous system is affected due to the presence of the blood brain barrier. Sphingolipidoses in particular often present as severe, untreatable forms of LSDs with massive sphingolipid and membrane accumulation in lysosomes, neurodegeneration, and very short life expectancy...
April 7, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28367273/development-and-in-vitro-evaluation-of-an-innovative-dietary-flavonoid-supplement-on-osteoarthritis-process
#15
Maria Rosaria Lauro, Lucia Crascí, Francesca Sansone, Venera Cardile, Anna Maria Panico, Giovanni Puglisi
The aim of this study was to evaluate the antidegenerative effect in osteoarthritis damage of eriocitrin alone and eriocitrin formulated as innovative "dietary flavonoid supplement." A complexation between eriocitrin and hydroxypropyl β-cyclodextrin by solubilization/freeze-drying method was performed. The complex in solution was evaluated by phase solubility studies and the optimal 1 : 2 flavanone/cyclodextrin molar ratio was selected. Hydroxypropyl β-cyclodextrin was able to complex eriocitrin as confirmed by UV-Vis absorption, DSC, and FTIR studies...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28363873/production-of-recombinant-human-acid-%C3%AE-glucosidase-with-high-mannose-glycans-in-gnt1-rice-for-the-treatment-of-pompe-disease
#16
Jae-Wan Jung, Nguyen-Xuan Huy, Hyo-Boon Kim, Nan-Sun Kim, Do Van Giap, Moon-Sik Yang
Lysosomal storage diseases are a group of inherited metabolic disorders. Patients are treated with enzyme replacement therapy (ERT), in which the replacement enzymes are required to carry terminal mannose or mannose 6-phosphate residues to allow efficient uptake into target cells and tissues. N-acetylglucosaminyltransferase-I (GnTI) mediates N-glycosylation in the cis cisternae of the Golgi apparatus by adding N-acetylglucosamine to the exposed terminal mannose residue of core N-glycan structures for further processing...
March 29, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28361850/prognostic-value-of-the-bone-turnover-markers-in-multiple-myeloma
#17
D Auzina, R Erts, S Lejniece
BACKGROUND: Multiple myeloma (MM) is characterized by osteolytic bone disease resulting from increased osteoclast activity and reduced osteoblast function. AIM: The aim of our research was to determine connection between bone turnover markers and presence of bone lesions, their degree of severity, to monitor MM bone disease and to assess effectiveness of anti-myeloma treatment. MATERIALS AND METHODS: Serum samples and clinical data from 123 patients with newly diagnosed MM were collected at Riga East Clinical University Hospital (Riga, Latvia) from June 2014 to June 2016...
March 2017: Experimental Oncology
https://www.readbyqxmd.com/read/28346229/clinical-efficacy-of-gene-modified-stem-cells-in-adenosine-deaminase-deficient-immunodeficiency
#18
Kit L Shaw, Elizabeth Garabedian, Suparna Mishra, Provaboti Barman, Alejandra Davila, Denise Carbonaro, Sally Shupien, Christopher Silvin, Sabine Geiger, Barbara Nowicki, E Monika Smogorzewska, Berkley Brown, Xiaoyan Wang, Satiro de Oliveira, Yeong Choi, Alan Ikeda, Dayna Terrazas, Pei-Yu Fu, Allen Yu, Beatriz Campo Fernandez, Aaron R Cooper, Barbara Engel, Greg Podsakoff, Arumugam Balamurugan, Stacie Anderson, Linda Muul, G Jayashree Jagadeesh, Neena Kapoor, John Tse, Theodore B Moore, Ken Purdy, Radha Rishi, Kathey Mohan, Suzanne Skoda-Smith, David Buchbinder, Roshini S Abraham, Andrew Scharenberg, Otto O Yang, Kenneth Cornetta, David Gjertson, Michael Hershfield, Rob Sokolic, Fabio Candotti, Donald B Kohn
BACKGROUND: Autologous hematopoietic stem cell transplantation (HSCT) of gene-modified cells is an alternative to enzyme replacement therapy (ERT) and allogeneic HSCT that has shown clinical benefit for adenosine deaminase-deficient (ADA-deficient) SCID when combined with reduced intensity conditioning (RIC) and ERT cessation. Clinical safety and therapeutic efficacy were evaluated in a phase II study. METHODS: Ten subjects with confirmed ADA-deficient SCID and no available matched sibling or family donor were enrolled between 2009 and 2012 and received transplantation with autologous hematopoietic CD34+ cells that were modified with the human ADA cDNA (MND-ADA) γ-retroviral vector after conditioning with busulfan (90 mg/m2) and ERT cessation...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28345005/chronic-enzyme-replacement-to-the-brain-of-a-late-infantile-neuronal-ceroid-lipofuscinosis-mouse-has-differential-effects-on-phenotypes-of-disease
#19
Jennifer A Wiseman, Yu Meng, Yuliya Nemtsova, Paul G Matteson, James H Millonig, Dirk F Moore, David E Sleat, Peter Lobel
Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase 1 (TPP1). We have investigated the effects of chronic intrathecal (IT) administration using enzyme replacement therapy (ERT) to the brain of an LINCL mouse model, in which locomotor function declines dramatically prior to early death. Median lifespan was significantly extended from 126 days to >259 days when chronic IT treatment was initiated before the onset of disease...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28344998/low-dose-liver-targeted-gene-therapy-for-pompe-disease-enhances-therapeutic-efficacy-of-ert-via-immune-tolerance-induction
#20
Sang-Oh Han, Giuseppe Ronzitti, Benjamin Arnson, Christian Leborgne, Songtao Li, Federico Mingozzi, Dwight Koeberl
Pompe disease results from acid α-glucosidase (GAA) deficiency, and enzyme replacement therapy (ERT) with recombinant human (rh) GAA has clinical benefits, although its limitations include the short half-life of GAA and the formation of antibody responses. The present study compared the efficacy of ERT against gene transfer with an adeno-associated viral (AAV) vector containing a liver-specific promoter. GAA knockout (KO) mice were administered either a weekly injection of rhGAA (20 mg/kg) or a single injection of AAV2/8-LSPhGAA (8 × 10(11) vector genomes [vg]/kg)...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
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