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C V Kouwenberg, N C Voermans, R Quinlivan, L van den Engel-Hoek
BACKGROUND: Exertional myalgia and cramps of the limb and trunk muscles are typical in McArdle disease, but mastication and oral motor limitations have not been systematically investigated before. OBJECTIVE: Determine the reported prevalence and characteristics of limitations on oral motor activities, mastication, swallowing, and other oral motor activities in patients with McArdle disease. METHODS: An observational study was carried out in 28 patients using a standardised questionnaire on mastication and oral motor function...
2018: Journal of Neuromuscular Diseases
Barbara K Lipska, Elaine McArdle
No abstract text is available yet for this article.
August 4, 2018: Lancet
Kathryn Kynoch, Anne Chang, Fiona Coyer, Annie McArdle
AIM: To develop a model of factors influencing meeting family needs when a relative was admitted to the intensive care unit (ICU). BACKGROUND: Studies identify individual factors impact on the needs of family members with a relative in ICU. No studies have reported on relationships between these factors and/or the extent of influence of multiple factors on family needs. DESIGN: Observational, correlational, and predictive study design. METHODS: Data were collected from August 2013 to June 2014 using validated scales and a demographic tool...
August 8, 2018: International Journal of Nursing Practice
Joseph B Alsberge, Judy J Chen, Ali A Zaidi, Arthur D Fu
PURPOSE: To report a case of pattern dystrophy in a patient with McArdle disease, a rare autosomal recessive disorder of glycogen metabolism. METHODS: Case report. RESULTS: A 29-year-old woman with a history of muscle biopsy-confirmed McArdle disease presented with fundus findings consistent with pattern dystrophy. Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was performed. CONCLUSION: To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease...
August 1, 2018: Retinal Cases & Brief Reports
Natasja Lammers, Ashton Curry-Hyde, Anne J Smith, Peter R Eastwood, Leon M Straker, David Champion, Nigel McArdle
Restless legs syndrome has been associated with serum iron deficiency in clinical studies. However, studies investigating this relationship have had inconsistent results and there are no studies in young adults. Therefore, we investigated the relationship between serum measures of iron stores and restless legs syndrome in young adults in the community. Participants in the Western Australian Pregnancy Cohort (Raine) Study answered questions on restless legs syndrome (n = 1,100, 54% female) at age 22 years, and provided serum measures of iron stores (ferritin and transferrin saturation) at ages 17 and 22 years...
July 31, 2018: Journal of Sleep Research
Marie Fernandes, Brian McArdle, Lauren Schiff, Timothy A Blenkinsop
An adult human retinal pigment epithelial layer (ahRPE) model derived from stem cells isolated from native RPE monolayers (ahRPE-SCs) exhibits key physiological characteristics of native tissue and therefore provides the means to create a human "disease in a dish" model to study RPE diseases. Traditionally, RPE lines are established from whole globes dedicated to research. Here we describe a new technique for establishing primary RPE lines from the posterior poles of globes used for corneal transplants...
May 2018: Current Protocols in Stem Cell Biology
Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos-Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea
Unfortunately the name of one of the authors was spelled incorrectly in the published original article. The correct name is Alejandro Santos-Lozano. The original article got updated.
July 20, 2018: Journal of Inherited Metabolic Disease
Q Sue Huang, Don Bandaranayake, Tim Wood, E Claire Newbern, Ruth Seeds, Jacqui Ralston, Ben Waite, Ange Bissielo, Namrata Prasad, Angela Todd, Lauren Jelley, Wendy Gunn, Anne McNicholas, Thomas Metz, Shirley Lawrence, Emma Collis, Amanda Retter, Sook-San Wong, Richard Webby, Judy Bocacao, Jennifer Haubrock, Graham Mackereth, Nikki Turner, Barbara McArdle, John Cameron, Gary Reynolds, Michael G Baker, Cameron C Grant, Colin McArthur, Sally Roberts, Adrian Trenholme, Conroy Wong, Susan Taylor, Paul Thomas, Jazmin Duque, Diane Gross, Mark G Thompson, Marc-Alain Widdowson
Background: Understanding the attack rate of influenza infection and the proportion who become ill by risk group is key to implementing prevention measures. While population-based studies of anti-haemagglutinin antibody responses have been described previously, studies examining both anti-haemagglutinin and anti-neuraminidase antibodies are lacking. Methods: In 2015, we conducted a sero-epidemiologic cohort study of individuals randomly selected from a population in New Zealand...
July 17, 2018: Journal of Infectious Diseases
Inés García-Consuegra, Sara Asensio-Peña, Alfonsina Ballester-Lopez, Rosario Francisco-Velilla, Tomás Pinos, Guillem Pintos-Morell, Jaume Coll-Cantí, Adrián González-Quintana, Antoni L Andreu, Joaquín Arenas, Alejandro Lucia, Gisela Nogales-Gadea, Miguel A Martín
McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). The activity of this enzyme is completely lost in patients' muscle biopsies, when measured with a standard biochemical test which, does not allow to determine M-GP protein levels. We aimed to determine M-GP protein levels in the muscle of McArdle patients, by studying biopsies of 40 patients harboring a broad spectrum of PYGM mutations and 22 controls...
July 16, 2018: Human Mutation
Christoph Kessel, Angela McArdle, Emely Verweyen, Toni Weinhage, Helmut Wittkowski, Stephen R Pennington, Dirk Foell
PURPOSE OF REVIEW: Current technical advances enable the assessment of the complex changes in body fluid proteomes and thus allow for the discovery of biomarker signatures rather than just following differences of a single marker. In this review, we aim to summarize current approaches to discover and evaluate multi-biomarker panels for improved monitoring of chronic arthritis disease activity. RECENT FINDINGS: Mass spectrometry and affinity proteomic methodologies have been used to identify biomarker panels in synovial fluid, serum, plasma, or urine of pediatric and adult chronic arthritis patients...
July 14, 2018: Current Rheumatology Reports
Ka Ying Bonnie Ng, Nigel A B Simpson, Janet E Cade, Darren C Greenwood, Harry J Mcardle, Etienne Ciantar, Nisreen A Alwan
BACKGROUND: In adults, arterial stiffness measured by pulse wave velocity (PWV) is regarded as a predictor of cardiovascular disease. Infant vascular development depends on factors related to pregnancy, including maternal blood pressure (BP). This study assessed the association between maternal BP in pregnancy and infant brachio-femoral PWV at age 2-6 weeks. METHODS: The Baby Vascular health and Iron in Pregnancy (Baby VIP) study is a birth cohort which measured PWV and heart rate (HR) in 284 babies in Leeds, UK, at 2-6 weeks after birth...
2018: PloS One
Mark Kelada, John M D Walsh, Robert W Devine, Patrick McArdle, John C Stephens
A simple one-pot method for the microwave-assisted synthesis of substituted pyrazolo[1,5- a ]pyrimidinones, a core scaffold in many bioactive and pharmaceutically relevant compounds, has been established. A variety of substituents was tolerated at the 2 and 5 positions, including functionalized aryls, heterocycles, and alkyl groups.
2018: Beilstein Journal of Organic Chemistry
William D Walters, Adolfo D Garnica, Gerald Bradley Schaefer
We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and electromyography revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a neurogenetics clinic team. Whole-exome sequencing was selected as a first tier test. This testing revealed a known disease causing mutation in the PYGM gene consistent with McArdle disease. We discuss the decision to use whole-exome sequencing in diagnostics and the rationale for making this our choice as a first-level test modality...
July 2018: Seminars in Pediatric Neurology
Andrea Pettenuzzo, Diego Montagner, Patrick McArdle, Luca Ronconi
With a view to developing more efficient strategies to the functionalization of metallodrugs with carbohydrates, we here report on an innovative and efficient synthetic route to generate gold(iii) glycoconjugates in high yields and purity. The method is based on the initial synthesis of the zinc(ii)-dithiocarbamato intermediate [ZnII(SSC-Inp-GlcN)2] (Inp = isonipecotic moiety; GlcN = amino-glucose) followed by the transfer of the glucoseisonipecoticdithiocarbamato ligand to the gold(iii) center via transmetallation reaction between the zinc(ii) intermediate and K[AuIIIBr4] in 1 : 2 stoichiometric ratio, yielding the corresponding glucose-functionalized gold(iii)-dithiocarbamato derivative [AuIIIBr2(SSC-Inp-GlcN)]...
June 26, 2018: Dalton Transactions: An International Journal of Inorganic Chemistry
Stephen M Hovick, Andrea McArdle, S Kent Harrison, Emilie E Regnier
Spatial patterns of trait variation across a species' range have implications for population success and evolutionary change potential, particularly in range-expanding and weedy species that encounter distinct selective pressures at large and small spatial scales simultaneously. We investigated intraspecific trait variation in a common garden experiment with giant ragweed ( Ambrosia trifida ), a highly variable agricultural weed with an expanding geographic range and broad ecological amplitude. Our study included paired populations from agricultural and natural riparian habitats in each of seven regions ranging east to west from the core of the species' distribution in central Ohio to southeastern Minnesota, which is nearer the current invasion front...
July 2018: Evolutionary Applications
Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of "manifesting" heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms or signs despite being carriers of only one mutated PYGM allele) have been reported in the literature but there is controversy, with misdiagnosis being a possibility. The purpose of our study was to determine if there are actually "manifesting" heterozygotes of McArdle disease and, if existing, whether statin treatment can trigger such condition...
June 20, 2018: Journal of Inherited Metabolic Disease
Ciara McArdle, Micheal O'Duill, Eimer G O'Malley, Ciara M E Reynolds, Rachel A K Kennedy, Michael J Turner
BACKGROUND AND AIMS: While many women quit smoking spontaneously before or during early pregnancy, information is limited about maternal smoking as pregnancy advances. This study examined the smoking behaviour of women throughout pregnancy and immediately after delivery. METHODS: Women on the postnatal ward were consented for BCO testing and after completing this under supervision, they were asked to complete an accompanying questionnaire on smoking behaviour (unsupervised)...
June 18, 2018: Irish Journal of Medical Science
Neil A R Gow, Tehmina Amin, Karen McArdle, Alistair J P Brown, Gordon D Brown, Adilia Warris, The Wtsa-Mmfi Consortium
The Wellcome Trust Strategic Award in Medical Mycology and Fungal Immunology is a unique investment that aimed to bolster capacity, training and research activity throughout the UK. This article summarises the rationale for collective collaboration of multiple institutions to achieve synergies and address a common medical problem.
June 13, 2018: Trends in Microbiology
Ketil Størdal, Harry J McArdle, Helen Hayes, German Tapia, Marte K Viken, Nicolai A Lund-Blix, Margaretha Haugen, Geir Joner, Torild Skrivarhaug, Karl Mårild, Pål R Njølstad, Merete Eggesbø, Siddhartha Mandal, Christian M Page, Stephanie J London, Benedicte A Lie, Lars C Stene
Iron overload due to environmental or genetic causes have been associated diabetes. We hypothesized that prenatal iron exposure is associated with higher risk of childhood type 1 diabetes. In the Norwegian Mother and Child cohort study (n = 94,209 pregnancies, n = 373 developed type 1 diabetes) the incidence of type 1 diabetes was higher in children exposed to maternal iron supplementation than unexposed (36.8/100,000/year compared to 28.6/100,000/year, adjusted hazard ratio 1.33, 95%CI: 1.06-1.67)...
June 13, 2018: Scientific Reports
David Pomarino, Stephan Martin, Andrea Pomarino, Stefanie Morigeau, Saskia Biskup
Idiopathic toe walking (ITW) is a pathological gait pattern in which children walk on their tip toes with no orthopedic or neurological reason. Physiological characteristics of the gastrocnemius muscles, the Achilles tendon, and the foot of toe walkers differ from subjects with a plantigrade walking pattern. McArdle's disease is characterized by the inability to break down muscle glycogen. It is an autosomal-recessive condition, characterized by low exercise tolerance, muscular atrophy at the shoulder girdle, episodes of myoglobinuria after vigorous physical activities and the occurrence of the second wind phenomenon...
June 2018: Journal of Orthopaedics
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