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J Do Cao, A Wiedemann, T Quinaux, S F Battaglia-Hsu, L Mainard, R Froissart, C Bonnemains, S Ragot, B Leheup, P Journeau, F Feillet
: Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study...
December 2016: Molecular Genetics and Metabolism Reports
Takashi Kodama, Takahiro Tsukimura, Ikuo Kawashima, Atsuko Sato, Hitoshi Sakuraba, Tadayasu Togawa
In Fabry disease, large amounts of globotriaosylceramide (Gb3) and related glycosphingolipids accumulate in organs due to a deficiency of α-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) with recombinant GLA is now available, and it has been reported that ERT is beneficial for patients with Fabry disease, especially those who start treatment at an early stage of the disease. However, it seems that the efficacy of ERT differs with each organ, and Gb3 accumulated in the kidneys shows resistance to ERT when it is started at a late stage...
October 12, 2016: Molecular Genetics and Metabolism
Farah Ben Tanfous, Carla Andrea Alonso, Wafa Achour, Laura Ruiz-Ripa, Carmen Torres, Assia Ben Hassen
The aim of this study was to investigate the molecular features among Klebsiella pneumoniae and Escherichia coli strains showing a resistant/intermediate-resistant phenotype to ertapenem (R/IR-ERT), implicated in colonization/infection in patients of the Hematology and Graft Units of the National Bone Marrow Transplant Center of Tunisia (3-year period, 2011-2014). The major carbapenemase, extended-spectrum beta-lactamase, and plasmidic AmpC beta-lactamase genes were analyzed and characterized by PCR and sequencing...
October 18, 2016: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
George Moschonis, Ellen G H M van den Heuvel, Christina Mavrogianni, Cécile M Singh-Povel, Michalis Leotsinidis, Yannis Manios
The benefits of dairy consumption seem to extend beyond its significant contribution to ensuring nutrient intake adequacy as indicated by the favourable associations with several health outcomes reported by different studies. The aims of the present study were to examine the associations of milk consumption with fitness, anthropometric and biochemical indices in children and further explore whether the observed associations are attributed to vitamins B₂ and B12 derived from milk. A representative subsample of 600 children aged 9-13 years participating in the Healthy Growth Study was examined...
October 13, 2016: Nutrients
Caroline Brammer, Sundus Yahya, Dawn Dawson, Carol Glaister, Susan B Merrick
OBJECTIVES: The aim of this feasibility study is to define the resource effectiveness of Cetuximab versus cisplatin given concomitantly with radiotherapy for squamous cell carcinoma within a NHS clinical oncology unit. METHODS: 20 Patients with stage 3 or 4 head and neck squamous cell cancers were randomised to receive either Cetuximab with radiotherapy (ERT) or cisplatin with radiotherapy (CRT) concurrent with external beam radiotherapy 70 Gy in 35 fractions on a 1:1 basis over a 12-month duration...
October 13, 2016: British Journal of Radiology
H Trimarchi, R Canzonieri, A Schiel, C Costales-Collaguazo, J Politei, A Stern, M Paulero, T Rengel, J Andrews, M Forrester, M Lombi, V Pomeranz, R Iriarte, A Muryan, E Zotta, M D Sanchez-Niño, A Ortiz
BACKGROUND: Certain glomerulopathies are associated with increased levels of CD80 (B7-1). We measured the urinary excretion of CD80, podocyturia and proteinuria in controls and in subjects with Fabry disease either untreated or on enzyme replacement therapy (ERT). METHODS: Cross-sectional study including 65 individuals: controls (n = 20) and Fabry patients (n = 45, 23 of them not on ERT and 22 on ERT). Variables included age, gender, urinary protein/creatinine ratio (UPCR), estimated glomerular filtration rate (eGFR), urinary uCD80/creatinine ratio (uCD80) and podocyturia...
October 13, 2016: Journal of Translational Medicine
Jessica M Kelly, Allison Bradbury, Douglas R Martin, Mark E Byrne
Approximately 1 in 5000-8000 children are born annually with a lysosomal storage disease (LSD), which affects their cells' ability to break down naturally occurring substrates. Accumulation, or "storage," of undegraded substrates leads to a wide variety of clinical symptoms, and early mortality. Currently, for LSDs with central nervous system (CNS) involvement, there is no available treatment. Four methods of treatment are being explored in clinical trials and preclinical settings: enzyme replacement therapy, ex vivo gene therapy, in vivo gene therapy, and nanoparticle-based therapy...
October 7, 2016: Progress in Neurobiology
Sandra Motas, Virginia Haurigot, Miguel Garcia, Sara Marcó, Albert Ribera, Carles Roca, Xavier Sánchez, Víctor Sánchez, Maria Molas, Joan Bertolin, Luca Maggioni, Xavier León, Jesús Ruberte, Fatima Bosch
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disease characterized by severe neurologic and somatic disease caused by deficiency of iduronate-2-sulfatase (IDS), an enzyme that catabolizes the glycosaminoglycans heparan and dermatan sulphate. Intravenous enzyme replacement therapy (ERT) currently constitutes the only approved therapeutic option for MPSII. However, the inability of recombinant IDS to efficiently cross the blood-brain barrier (BBB) limits ERT efficacy in treating neurological symptoms...
June 16, 2016: JCI Insight
Stephanie L Austin, Andrew Chiou, Baodong Sun, Laura E Case, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene...
September 28, 2016: Molecular Genetics and Metabolism
Malte Lenders, Boris Schmitz, Jörg Stypmann, Thomas Duning, Stefan-Martin Brand, Christine Kurschat, Eva Brand
BACKGROUND: Renal and cardiac involvement is responsible for substantial morbidity and mortality in Fabry disease (FD). We analysed the incidence of FD-related renal, cardiac and neurologic end points in patients with FD on long-term enzyme replacement therapy (ERT). METHODS: A retrospective analysis of prospectively collected data from two German FD centres was performed. The impact of renal and cardiac function at ERT-naïve baseline on end point development despite ERT was analysed...
September 27, 2016: Nephrology, Dialysis, Transplantation
Camille Attané, Marie-Line Peyot, Roxane Lussier, Pegah Poursharifi, Shangang Zhao, Dongwei Zhang, Johane Morin, Marco Pineda, Shupei Wang, Olivier Dumortier, Neil B Ruderman, Grant A Mitchell, Brigitte Simons, S R Murthy Madiraju, Erik Joly, Marc Prentki
AIMS/HYPOTHESIS: To directly assess the role of beta cell lipolysis in insulin secretion and whole-body energy homeostasis, inducible beta cell-specific adipose triglyceride lipase (ATGL)-deficient (B-Atgl-KO) mice were studied under normal diet (ND) and high-fat diet (HFD) conditions. METHODS: Atgl (flox/flox) mice were cross-bred with Mip-Cre-ERT mice to generate Mip-Cre-ERT(/+);Atgl (flox/flox) mice. At 8 weeks of age, these mice were injected with tamoxifen to induce deletion of beta cell-specific Atgl (also known as Pnpla2), and the mice were fed an ND or HFD...
September 27, 2016: Diabetologia
Robin Souron, Adrien Farabet, Léonard Féasson, Alain Belli, Guillaume Y Millet, Thomas Lapole
OBJECTIVE: It has been recently proposed the use of vibration as a neuromuscular rehabilitation technique. A recent study showed significant strength improvement after 14days of local vibration training on the Achilles tendon. An improvement of the motor drive from the cortical level has been proposed to be one of the mechanisms involved. The aim of the current study was to assess the effects of an 8-week local vibration training (24 sessions of 1h each) on: - the maximal voluntary contraction (MVC); - the cortical voluntary activation (VATMS) assessed using transcranial magnetic stimulation (TMS) technique for the tibialis anterior (TA) muscle...
September 2016: Annals of Physical and Rehabilitation Medicine
James L Klotz, Glen E Aiken, Jessica R Bussard, Andrew P Foote, David L Harmon, Ben M Goff, F Neal Schrick, James R Strickland
Previous research has indicated that serotonergic and α-adrenergic receptors in peripheral vasculature are affected by exposure of cattle grazing toxic endophyte-infected (E+; Epichlöe coenophialia) tall fescue (Lolium arundinaceum). The objective of this experiment was to determine the period of time necessary for the vascular effects of ergot alkaloids to subside. Two experiments were conducted to investigate changes in vascular contractile response and vasoconstriction over time relative to removal from an ergot alkaloid-containing E+ tall fescue pasture...
2016: Toxins
Anna Pichiecchio, Marta Rossi, Claudia Cinnante, Stefania Giovanna Colafati, Roberto De Icco, Rossella Parini, Francesca Menni, Francesca Furlan, Alberto Burlina, Michele Sacchini, Maria Alice Donati, Simona Fecarotta, Roberto Della Casa, Federica Deodato, Roberta Taurisano, Maja Di Rocco
INTRODUCTION: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5±2.74 years) affected by classic infantile-onset Pompe disease (IOPD) who were treated with enzyme replacement therapy (ERT). METHODS: We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively...
September 26, 2016: Muscle & Nerve
Marialuisa Alliegro, Rita Ferla, Edoardo Nusco, Chiara De Leonibus, Carmine Settembre, Alberto Auricchio
Enzyme replacement therapy (ERT) is the standard of care for several lysosomal storage diseases (LSDs). ERT, however, requires multiple and costly administrations and has limited efficacy. We recently showed that a single high dose administration of adeno-associated viral vector serotype 8 (AAV2/8) is at least as effective as weekly ERT in a mouse model of mucopolysaccharidosis type VI (MPS VI). However, systemic administration of high doses of AAV might result in both cell-mediated immune responses and insertional mutagenesis...
September 23, 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
Mohammadreza Soltaninejad, Guang Yang, Tryphon Lambrou, Nigel Allinson, Timothy L Jones, Thomas R Barrick, Franklyn A Howe, Xujiong Ye
PURPOSE: We propose a fully automated method for detection and segmentation of the abnormal tissue associated with brain tumour (tumour core and oedema) from Fluid- Attenuated Inversion Recovery (FLAIR) Magnetic Resonance Imaging (MRI). METHODS: The method is based on superpixel technique and classification of each superpixel. A number of novel image features including intensity-based, Gabor textons, fractal analysis and curvatures are calculated from each superpixel within the entire brain area in FLAIR MRI to ensure a robust classification...
September 20, 2016: International Journal of Computer Assisted Radiology and Surgery
Ting Li, Yuanyuan Ma, Hong Zhang, Ping Yan, Lili Huo, Yongyan Hu, Xi Chen, Ting Li, Miao Zhang, Zhaohui Liu
Background. To determine the exact role of estrogen in vaginal tissue morphology and estrogen receptor-alpha (ERα) distribution in the vagina, which remains controversial. Methods. Sixty rats were randomly categorized: sham-operated (sham), ovariectomy (OVX), and four estradiol treatments (estradiol valerate at 0.4, 0.8, 1.6, and 3.2 mg/kg/day) for 2 weeks. Thereafter, vaginal samples were biopsied from the distal- and proximal-half portions. The percentage of ERα-immunoreactive cells and the ERα score were quantified using immunohistochemistry to assess changes in ERα expression and distribution...
2016: International Journal of Endocrinology
A Hargreaves, O Mothersill, M Anderson, S Lawless, A Corvin, G Donohoe
BACKGROUND: Deficits in facial emotion recognition have been associated with functional impairments in patients with Schizophrenia (SZ). Whilst a strong ecological argument has been made for the use of both dynamic facial expressions and varied emotion intensities in research, SZ emotion recognition studies to date have primarily used static stimuli of a singular, 100%, intensity of emotion. To address this issue, the present study aimed to investigate accuracy of emotion recognition amongst patients with SZ and healthy subjects using dynamic facial emotion stimuli of varying intensities...
October 28, 2016: Neuroscience Letters
Laure Gallay, Philippe Petiot, Isabelle Durieu, Nathalie Streichenberger, Frederic Berard
Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that has shown benefits. However, this treatment induces hypersensitivity for half of the treated patients. Reactions range from mild to severe, sometimes requiring ERT suspension and anti-anaphylaxis drug administration...
July 19, 2016: Neuromuscular Disorders: NMD
Dorina Murgulet, Valeriu Murgulet, Nicholas Spalt, Audrey Douglas, Richard G Hay
There is a lack of understanding and methods for assessing the effects of anthropogenic disruptions, (i.e. river fragmentation due to dam construction) on the extent and degree of groundwater-surface water interaction and geochemical processes affecting the quality of water in semi-arid, coastal catchments. This study applied a novel combination of electrical resistivity tomography (ERT) and elemental and isotope geochemistry in a coastal river disturbed by extended drought and periodic flooding due to the operation of multiple dams...
September 10, 2016: Science of the Total Environment
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