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https://www.readbyqxmd.com/read/29146308/-molecular-habituation-as-a-potential-mechanism-of-gradual-homeostatic-loss-with-age
#1
Alvaro Martinez Guimera, Ciaran M Welsh, Carole J Proctor, Anne McArdle, Daryl P Shanley
The ability of reactive oxygen species (ROS) to cause molecular damage has meant that chronic oxidative stress has been mostly studied from the point of view of being a source of toxicity to the cell. However, the known duality of ROS molecules as both damaging agents and cellular redox signals implies another perspective in the study of sustained oxidative stress. This is a perspective of studying oxidative stress as a constitutive signal within the cell. In this work, we adopt a theoretical perspective as an exploratory and explanatory approach to examine how chronic oxidative stress can interfere with signal processing by redox signalling pathways in the cell...
November 13, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/29143597/genotypic-and-phenotypic-features-of-all-spanish-patients-with-mcardle-disease-a-2016-update
#2
Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A Martín, Alejandro Lucia
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. METHODS: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016)...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29140567/human-adipose-derived-stromal-cell-isolation-methods-and-use-in-osteogenic-and-adipogenic-in-vivo-applications
#3
Elizabeth Brett, Ruth Tevlin, Adrian McArdle, Eun Young Seo, Charles K F Chan, Derrick C Wan, Michael T Longaker
Adipose tissue represents an abundant and easily accessible source of multipotent cells, which may serve as excellent building blocks for tissue engineering. This article presents a newly described protocol for isolating adipose-derived stromal cells (ASCs) from human lipoaspirate, compared to the standard protocol for harvesting ASCs established in 2001. Human ASC isolation is performed using two methods, and resultant cells are compared through cell yield, cell viability, cell proliferation and regenerative potential...
November 15, 2017: Current Protocols in Stem Cell Biology
https://www.readbyqxmd.com/read/29118054/vitamin-d-status-in-chronic-fatigue-syndrome-myalgic-encephalomyelitis-a-cohort-study-from-the-north-west-of-england
#4
Kate E Earl, Giorgos K Sakellariou, Melanie Sinclair, Manuel Fenech, Fiona Croden, Daniel J Owens, Jonathan Tang, Alastair Miller, Clare Lawton, Louise Dye, Graeme L Close, William D Fraser, Anne McArdle, Michael B J Beadsworth
OBJECTIVE: Severe vitamin D deficiency is a recognised cause of skeletal muscle fatigue and myopathy. The aim of this study was to examine whether chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is associated with altered circulating vitamin D metabolites. DESIGN: Cohort study. SETTING: UK university hospital, recruiting from April 2014 to April 2015. PARTICIPANTS: Ninety-two patients with CFS/ME and 94 age-matched healthy controls (HCs)...
November 8, 2017: BMJ Open
https://www.readbyqxmd.com/read/29107615/the-natural-bile-acid-surfactant-sodium-taurocholate-natc-as-a-coformer-in-coamorphous-systems-enhanced-physical-stability-and-dissolution-behavior-of-coamorphous-drug-natc-systems
#5
Katarzyna Gniado, Pól MacFhionnghaile, Patrick McArdle, Andrea Erxleben
The amorphization of 18 different drugs on milling with one mole equivalent sodium taurocholate (NaTC) was investigated. In all cases the X-ray powder pattern showed an amorphous halo after milling at room temperature or after cryomilling and 14 of the 18 coamorphous drug-NaTC systems were physically stable for between one to eleven months under ambient storage conditions. In three cases, namely carbamazepine-NaTC, indomethacin-NaTC and mefenamic acid-NaTC, significant dissolution advantages over the crystalline drugs were observed, both for the freshly prepared samples and after storage for seven months...
October 28, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/29079393/211th-enmc-international-workshop-development-of-diagnostic-criteria-and-management-strategies-for-mcardle-disease-and-related-rare-glycogenolytic-disorders-to-improve-standards-of-care-17-19th-april-2015-naarden-netherlands
#6
https://www.readbyqxmd.com/read/29065712/comparison-of-whole-body-sod1-knockout-with-muscle-specific-sod1-knockout-mice-reveals-a-role-for-nerve-redox-signaling-in-regulation-of-degenerative-pathways-in-skeletal-muscle
#7
Giorgos Sakellariou, Brian McDonagh, Helen Porter, Ifigeneia Giakoumaki, Kate Earl, Gareth Nye, Aphrodite Vasilaki, Susan Brooks, Arlan Richardson, Holly Van Remmen, Anne McArdle, Malcolm Joseph Jackson
AIMS: Lack of CuZnSOD in homozygous knockout mice (Sod1-/-) leads to accelerated age-related muscle loss and weakness, but specific deletion of CuZnSOD in skeletal muscle(mSod1KO mice) or neurons (nSod1KO mice) resulted in only mild muscle functional deficits and failed to recapitulate the loss of mass and function observed in Sod1-/- mice. To dissect any underlying cross-talk between motor neurons and skeletal muscle in the degeneration in Sod1-/- mice, we characterized neuromuscular changes in the Sod1-/- model compared with mSod1KO mice and examined degenerative molecular mechanisms and pathways in peripheral nerve and skeletal muscle...
October 25, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29051551/reducing-sarcolipin-expression-mitigates-duchenne-muscular-dystrophy-and-associated-cardiomyopathy-in-mice
#8
Antanina Voit, Vishwendra Patel, Ronald Pachon, Vikas Shah, Mohammad Bakhutma, Erik Kohlbrenner, Joseph J McArdle, Louis J Dell'Italia, Jerry R Mendell, Lai-Hua Xie, Roger J Hajjar, Dongsheng Duan, Diego Fraidenraich, Gopal J Babu
Sarcolipin (SLN) is an inhibitor of the sarco/endoplasmic reticulum (SR) Ca(2+) ATPase (SERCA) and is abnormally elevated in the muscle of Duchenne muscular dystrophy (DMD) patients and animal models. Here we show that reducing SLN levels ameliorates dystrophic pathology in the severe dystrophin/utrophin double mutant (mdx:utr (-/-)) mouse model of DMD. Germline inactivation of one allele of the SLN gene normalizes SLN expression, restores SERCA function, mitigates skeletal muscle and cardiac pathology, improves muscle regeneration, and extends the lifespan...
October 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/29039672/stereoselective-epimerizations-of-glycosyl-thiols
#9
Lisa M Doyle, Shane O'Sullivan, Claudia Di Salvo, Michelle McKinney, Patrick McArdle, Paul V Murphy
Glycosyl thiols are widely used in stereoselective S-glycoside synthesis. Their epimerization from 1,2-trans to 1,2-cis thiols (e.g., equatorial to axial epimerization in thioglucopyranose) was attained using TiCl4, while SnCl4 promoted their axial-to-equatorial epimerization. The method included application for stereoselective β-d-manno- and β-l-rhamnopyranosyl thiol formation. Complex formation explains the equatorial preference when using SnCl4, whereas TiCl4 can shift the equilibrium toward the 1,2-cis thiol via 1,3-oxathiolane formation...
October 17, 2017: Organic Letters
https://www.readbyqxmd.com/read/29032863/measuring-the-quality-of-personal-care-in-patients-undergoing-radiotherapy-for-prostate-cancer
#10
K A Foley, P A Groome, D Feldman-Stewart, M D Brundage, J H Foley, S McArdle, W J Mackillop
AIMS: To describe the quality of the non-technical component of the care (personal care) of patients receiving radical radiotherapy for prostate cancer and to identify elements of personal care that should be priorities for quality improvement. MATERIALS AND METHODS: One hundred and eight patients undergoing radiotherapy for localised prostate cancer completed a self-administered questionnaire that asked them to rate the importance of 143 non-technical elements of care and to rate the quality of their own care with respect to each element...
October 9, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29025028/cohort-profile-pregnancy-and-childhood-epigenetics-pace-consortium
#11
Janine F Felix, Bonnie R Joubert, Andrea A Baccarelli, Gemma C Sharp, Catarina Almqvist, Isabella Annesi-Maesano, Hasan Arshad, Nour Baïz, Marian J Bakermans-Kranenburg, Kelly M Bakulski, Elisabeth B Binder, Luigi Bouchard, Carrie V Breton, Bert Brunekreef, Kelly J Brunst, Esteban G Burchard, Mariona Bustamante, Leda Chatzi, Monica Cheng Munthe-Kaas, Eva Corpeleijn, Darina Czamara, Dana Dabelea, George Davey Smith, Patrick De Boever, Liesbeth Duijts, Terence Dwyer, Celeste Eng, Brenda Eskenazi, Todd M Everson, Fahimeh Falahi, M Daniele Fallin, Sara Farchi, Mariana F Fernandez, Lu Gao, Tom R Gaunt, Akram Ghantous, Matthew W Gillman, Semira Gonseth, Veit Grote, Olena Gruzieva, Siri E Håberg, Zdenko Herceg, Marie-France Hivert, Nina Holland, John W Holloway, Cathrine Hoyo, Donglei Hu, Rae-Chi Huang, Karen Huen, Marjo-Riitta Järvelin, Dereje D Jima, Allan C Just, Margaret R Karagas, Robert Karlsson, Wilfried Karmaus, Katerina J Kechris, Juha Kere, Manolis Kogevinas, Berthold Koletzko, Gerard H Koppelman, Leanne K Küpers, Christine Ladd-Acosta, Jari Lahti, Nathalie Lambrechts, Sabine A S Langie, Rolv T Lie, Andrew H Liu, Maria C Magnus, Per Magnus, Rachel L Maguire, Carmen J Marsit, Wendy McArdle, Erik Melén, Phillip Melton, Susan K Murphy, Tim S Nawrot, Lorenza Nisticò, Ellen A Nohr, Björn Nordlund, Wenche Nystad, Sam S Oh, Emily Oken, Christian M Page, Patrice Perron, Göran Pershagen, Costanza Pizzi, Michelle Plusquin, Katri Raikkonen, Sarah E Reese, Eva Reischl, Lorenzo Richiardi, Susan Ring, Ritu P Roy, Peter Rzehak, Greet Schoeters, David A Schwartz, Sylvain Sebert, Harold Snieder, Thorkild I A Sørensen, Anne P Starling, Jordi Sunyer, Jack A Taylor, Henning Tiemeier, Vilhelmina Ullemar, Marina Vafeiadi, Marinus H Van Ijzendoorn, Judith M Vonk, Annette Vriens, Martine Vrijheid, Pei Wang, Joseph L Wiemels, Allen J Wilcox, Rosalind J Wright, Cheng-Jian Xu, Zongli Xu, Ivana V Yang, Paul Yousefi, Hongmei Zhang, Weiming Zhang, Shanshan Zhao, Golareh Agha, Caroline L Relton, Vincent W V Jaddoe, Stephanie J London
No abstract text is available yet for this article.
September 13, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28991825/evaluation-of-vasopressin-for-septic-shock-in-patients-on-chronic-renin-angiotensin-aldosterone-system-inhibitors
#12
Beth L Erwin, Michael A Denaburg, Andrew B Barker, Philip J McArdle, Samuel T Windham, Charity J Morgan
OBJECTIVES: To compare the hemodynamic response in septic shock patients receiving vasopressin who were on chronic renin-angiotensin-aldosterone system inhibitor therapy with those who were not. DESIGN: Single-center, retrospective cohort study. SETTING: Medical and surgical ICUs at a 1,100-bed academic medical center. PATIENTS: Medical and surgical ICU patients with septic shock who received vasopressin infusion added to at least one concomitant vasopressor agent between January 2014 and December 2015, then divided into two cohorts: 1) patients who were on chronic renin-angiotensin-aldosterone system inhibitor therapy as outpatients and 2) patients who were not on chronic renin-angiotensin-aldosterone system inhibitor therapy as outpatients...
December 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28973202/laboratory-polysomnography-or-limited-channel-sleep-studies-for-obstructive-sleep-apnea
#13
Ching Li Chai-Coetzer, Nigel McArdle, R Doug McEvoy
No abstract text is available yet for this article.
October 3, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28967462/myophosphorylase-pygm-mutations-determined-by-next-generation-sequencing-in-a-cohort-from-turkey-with-mcardle-disease
#14
Güldal Inal-Gültekin, Bahar Toptaş-Hekimoğlu, Zeliha Görmez, Özlem Gelişin, Hacer Durmuş, Bekir Ergüner, Hüseyin Demirci, Mahmut Ş Sağıroğlu, Yeşim Parman, Feza Deymeer, Hülya Yılmaz-Aydoğan, Sadrettin Pençe, Can Ebru Bekircan-Kurt, Ersin Tan, Sevim Erdem-Özdamar, Duran Üstek, Urs Giger, Oğuz Öztürk, Piraye Serdaroğlu-Oflazer
This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy volunteers (n = 53). The PYGM gene was sequenced with NGS and the observed mutations were validated by direct Sanger sequencing. A diagnostic algorithm was developed for patients with suspected McArdle disease. A total of 16 deleterious PYGM mutations were identified, of which 5 were novel, including 1 splice-site donor, 1 frame-shift, and 3 non-synonymous variants...
November 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28965494/the-impacts-of-maternal-iron-deficiency-and-being-overweight-during-pregnancy-on-neurodevelopment-of-the-offspring
#15
Staffan K Berglund, Francisco J Torres-Espínola, Luz García-Valdés, Mª Teresa Segura, Cristina Martínez-Zaldívar, Carmen Padilla, Ricardo Rueda, Miguel Pérez García, Harry J McArdle, Cristina Campoy
Both maternal Fe deficiency (ID) and being overweight or obese (Ow/Ob, BMI≥25 kg/m2) may negatively affect offspring brain development. However, the two risk factors correlate and their independent effects on infant neurodevelopment are unclear. PREOBE is a prospective observational study that included 331 pregnant Spanish women, of whom 166 had pre-gestational Ow/Ob. Fe status was analysed at 34 weeks and at delivery, and babies were assessed using Bayley III scales of neurodevelopment at 18 months. In confounder-adjusted analyses, maternal ID at 34 weeks was associated with lower composite motor scores at 18 months (mean 113·3 (sd 9·9) v...
October 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28961637/the-hugh-jackman-effect-the-impact-of-celebrity-health-disclosure-on-skin-cancer-awareness
#16
George Rahmani, Adrian McArdle, John L Kelly
No abstract text is available yet for this article.
September 28, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28958052/treating-chronic-hypoventilation-with-automatic-adjustable-versus-fixed-epap-intelligent-volume-assured-positive-airway-pressure-support-ivaps-a-randomized-controlled-trial
#17
Nigel McArdle, Clare Rea, Stuart King, Kathleen Maddison, Dinesh Ramanan, Sahisha Ketheeswaran, Lisa Erikli, Vanessa Baker, Jeff Armitstead, Glenn Richards, Bhajan Singh, David Hillman, Peter Eastwood
Objectives: New noninvasive ventilation (NIV) modes can automatically adjust pressure support settings to deliver effective ventilation in response to varying ventilation demands. It is recommended that fixed expiratory positive airway pressure (FixedEPAP) is determined by attended laboratory polysomnographic (PSG) titration. This study investigated whether automatically determined EPAP (AutoEPAP) was noninferior to FixedEPAP for the control of obstructive sleep apnea (OSA) during intelligent volume-assured pressure support (iVAPS) treatment of chronic hypoventilation...
October 1, 2017: Sleep
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#18
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/28929496/a-methylome-wide-association-study-of-trajectories-of-oppositional-defiant-behaviors-and-biological-overlap-with-attention-deficit-hyperactivity-disorder
#19
Edward D Barker, Esther Walton, Charlotte A M Cecil, Richard Rowe, Sara R Jaffee, Barbara Maughan, Thomas G O'Connor, Argyris Stringaris, Alan J Meehan, Wendy McArdle, Caroline L Relton, Tom R Gaunt
In 671 mother-child (49% male) pairs from an epidemiological birth cohort, we investigated (a) prospective associations between DNA methylation (at birth) and trajectories (ages 7-13) of oppositional defiant disorder (ODD), and the ODD subdimensions of irritable and headstrong; (b) common biological pathways, indexed by DNA methylation, between ODD trajectories and attention deficit hyperactivity disorder (ADHD); (c) genetic influence on DNA methylation; and (d) prenatal risk exposure associations. Methylome-wide significant associations were identified for the ODD and headstrong, but not for irritable...
September 20, 2017: Child Development
https://www.readbyqxmd.com/read/28925366/establishment-of-a-human-ipsc-line-iishdoi001-a-from-a-patient-with-mcardle-disease
#20
María Del Carmen Ortuño-Costela, Nathalie Rodríguez-Mancera, Marta García-López, Francisco Zurita-Díaz, Ana Moreno-Izquierdo, Alejandro Lucía, Miguel Ángel Martín, Rafael Garesse, M Esther Gallardo
Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p.Arg50Ter, in the PYGM gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.
August 2017: Stem Cell Research
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