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https://www.readbyqxmd.com/read/30316539/retinopathy-associated-with-biallelic-mutations-in-pygm-mcardle-disease
#1
Omar A Mahroo, Kamron N Khan, Genevieve Wright, Zoe Ockrim, Renata S Scalco, Anthony G Robson, Adnan Tufail, Michel Michaelides, Ros Quinlivan, Andrew R Webster
No abstract text is available yet for this article.
October 10, 2018: Ophthalmology
https://www.readbyqxmd.com/read/30281865/is-evolutionary-loss-our-gain-the-role-of-actn3-p-arg577ter-r577x-genotype-in-athletic-performance-ageing-and-disease
#2
REVIEW
Peter J Houweling, Ioannis D Papadimitriou, Jane T Seto, Laura M Pérez, Juan Del Coso, Kathryn N North, Alejandro Lucia, Nir Eynon
A common null polymorphism in the ACTN3 gene (rs1815739:C>T) results in replacement of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle protein α-actinin-3. The ACTN3 p.Arg577Ter allele (aka p.R577* or R577X) has undergone positive selection, with an increase in the X allele frequency as modern humans migrated out of Africa into the colder, less species-rich Eurasian climates suggesting that the absence of α-actinin-3 may be beneficial in these conditions. Approximately 1...
October 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/30269573/weight-gain-correlated-with-decrease-in-clozapine-n-desmethyl-clozapine-ratio-in-a-man-with-treatment-refractory-schizophrenia
#3
Vidanelage Nimmi De Mel, Nicole Korman, Peter McArdle, Dan J Siskind
No abstract text is available yet for this article.
October 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/30268694/the-effects-of-long-term-cpap-on-weight-change-in-patients-with-co-morbid-osa-and-cardiovascular-disease-data-from-the-save-trial
#4
Qiong Ou, Baixin Chen, Kelly A Loffler, Yuanming Luo, Xilong Zhang, Rui Chen, Qian Wang, Luciano F Drager, Geraldo Lorenzi-Filho, Michael Hlavac, Nigel McArdle, Sutapa Mukherjee, Olga Mediano, Ferran Barbe, Craig S Anderson, R Doug McEvoy, Richard J Woodman
BACKGROUND: Recent evidence suggests that obstructive sleep apnea (OSA) treatment may cause weight gain, but long-term effects of continuous positive airway pressure (CPAP) on weight are not well-established. METHODS: Post-hoc analysis of the Sleep Apnea Cardiovascular Endpoints (SAVE) study, a multicenter, randomized trial of CPAP plus standard care versus standard care alone in adults with a history of cardiac or cerebrovascular events and moderate-severe OSA...
September 27, 2018: Chest
https://www.readbyqxmd.com/read/30264442/james-lind-alliance-research-priorities-what-role-do-carbohydrates-fats-and-proteins-have-in-the-management-of-type-2-diabetes-and-are-there-risks-and-benefits-associated-with-particular-approaches
#5
P Dyson, P McArdle, D Mellor, N Guess
AIMS: To assess the role played by carbohydrates, fat and proteins in the management of Type 2 diabetes. BACKGROUND: Diabetes research tends to reflect the interests of academics or the pharmaceutical industry, rather than those of people living with Type 2 diabetes. The James Lind Alliance and Diabetes UK addressed this issue by defining the research priorities of people living with Type 2 diabetes. Three of the top 10 research priority questions focused on lifestyle...
September 27, 2018: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/30258497/charcot-neuroarthropathy-patient-education-among-podiatrists-in-scotland-a-modified-delphi-approach
#6
Benjamin Bullen, Matthew Young, Carla McArdle, Mairghread Ellis
Background: This evaluation sought to determine current Charcot neuroarthropathy (CN) diabetes patient education practices among Scottish National Health Service (NHS) and academic podiatrists and evaluate novel visual tools and develop expert consensus for future practice. Methods: Questionnaires collected mixed qualitative and quantitative responses, analysed concurrently within a convergence coding matrix. Delphi methodology permitted member-checking and agreement of consensus over two rounds...
2018: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/30254632/immune-phenotyping-and-transcriptomic-profiling-of-peripheral-blood-mononuclear-cells-from-patients-with-breast-cancer-identification-of-a-3-gene-signature-which-predicts-relapse-of-triple-negative-breast-cancer
#7
Gemma A Foulds, Jayakumar Vadakekolathu, Tarek M A Abdel-Fatah, Divya Nagarajan, Stephen Reeder, Catherine Johnson, Simon Hood, Paul M Moseley, Stephen Y T Chan, A Graham Pockley, Sergio Rutella, Stephanie E B McArdle
Background: Interactions between the immune system and tumors are highly reciprocal in nature, leading to speculation that tumor recurrence or therapeutic resistance could be influenced or predicted by immune events that manifest locally, but can be detected systemically. Methods: Multi-parameter flow cytometry was used to examine the percentage and phenotype of natural killer (NK) cells, myeloid-derived suppressor cells (MDSCs), monocyte subsets and regulatory T (Treg) cells in the peripheral blood of of 85 patients with breast cancer (50 of whom were assessed before and after one cycle of anthracycline-based chemotherapy), and 23 controls...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/30220325/dna-methylation-derived-systemic-inflammation-indices-are-associated-with-head-and-neck-cancer-development-and-survival
#8
Srikant Ambatipudi, Ryan Langdon, Rebecca C Richmond, Matthew Suderman, Devin C Koestler, Karl T Kelsey, Nabila Kazmi, Christopher Penfold, Karen M Ho, Wendy McArdle, Susan M Ring, Miranda Pring, Tim Waterboer, Michael Pawlita, Tom R Gaunt, George Davey Smith, Steve Thomas, Andy R Ness, Caroline L Relton
OBJECTIVES: Head and neck squamous cell carcinoma (HNSCC) is often associated with chronic systemic inflammation (SI). In the present study, we assessed if DNA methylation-derived SI (mdSI) indices: Neutrophil-to-Lymphocyte ratio (mdNLR) and Lymphocyte-to-Monocyte ratio (mdLMR) are associated with the presence of HNSCC and overall survival (OS). MATERIALS AND METHODS: We used two peripheral blood DNA methylation datasets: an HNSCC case-control dataset (n = 183) and an HNSCC survival dataset (n = 407) to estimate mdSI indices...
October 2018: Oral Oncology
https://www.readbyqxmd.com/read/30177825/hundred-fold-enhancement-in-far-field-radiative-heat-transfer-over-the-blackbody-limit
#9
Dakotah Thompson, Linxiao Zhu, Rohith Mittapally, Seid Sadat, Zhen Xing, Patrick McArdle, M Mumtaz Qazilbash, Pramod Reddy, Edgar Meyhofer
Radiative heat transfer (RHT) has a central role in entropy generation and energy transfer at length scales ranging from nanometres to light years1 . The blackbody limit2 , as established in Max Planck's theory of RHT, provides a convenient metric for quantifying rates of RHT because it represents the maximum possible rate of RHT between macroscopic objects in the far field-that is, at separations greater than Wien's wavelength3 . Recent experimental work has verified the feasibility of overcoming the blackbody limit in the near field4-7 , but heat-transfer rates exceeding the blackbody limit have not previously been demonstrated in the far field...
September 2018: Nature
https://www.readbyqxmd.com/read/30148241/extraosseous-ewing-sarcoma-arising-in-a-chronically-lymphedematous-limb
#10
David John Tobias McArdle, Louise Nott, Robin Harle, John Patrick McArdle
Ewing sarcoma is a highly aggressive small round cell malignant neoplasm of bone and soft tissue that typically is manifested in children and young adults. It is most commonly a primary bone tumor; however, extraosseous cases have been increasingly reported. We report a case of metastatic extraosseous Ewing sarcoma with the primary lesion occurring within a limb affected by primary lymphedema. Lymphedema, in this case, played a role not only in the genesis of the tumor because of the relative local immunosuppression but also in masking the development of the lower limb mass...
September 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/30146008/identification-of-loci-where-dna-methylation-potentially-mediates-genetic-risk-of-type-1-diabetes
#11
Jody Ye, Tom G Richardson, Wendy L McArdle, Caroline L Relton, Kathleen M Gillespie, Matthew Suderman, Gibran Hemani
The risk of Type 1 Diabetes (T1D) comprises both genetic and environmental components. We investigated whether genetic susceptibility to T1D could be mediated by changes in DNA methylation, an epigenetic mechanism that potentially plays a role in autoimmune diabetes. From enrichment analysis, we found that there was a common genetic influence for both DNA methylation and T1D across the genome, implying that methylation could be either on the causal pathway to T1D or a non-causal biomarker of T1D genetic risk...
September 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/30139908/fluid-trial-a-protocol-for-a-hospital-wide-open-label-cluster-crossover-pragmatic-comparative-effectiveness-randomised-pilot-trial
#12
Lauralyn McIntyre, Monica Taljaard, Tracy McArdle, Alison Fox-Robichaud, Shane W English, Claudio Martin, John Marshall, Kusum Menon, John Muscedere, Deborah J Cook, Charles Weijer, Raphael Saginur, Alies Maybee, Akshai Iyengar, Alan Forster, Ian D Graham, Steven Hawken, Colin McCartney, Andrew Je Seely, Ian G Stiell, Kednapa Thavorn, Dean A Fergusson
INTRODUCTION: 0.9% saline and Ringer's lactate are the two most common resuscitation crystalloid fluids. 0.9% saline may lead to hyperchloraemic metabolic acidosis and may be associated with impaired kidney function and death. Few large multicentre randomised trials have been conducted to evaluate the effect of these two fluids on clinically important outcomes. METHODS: FLUID is a pragmatic pilot cluster randomised crossover trial in which four hospitals will be randomised to normal saline or Ringer's lactate for 14 weeks, then crossover to the alternative fluid for the subsequent 14 weeks after 1 to 3 week transition...
August 23, 2018: BMJ Open
https://www.readbyqxmd.com/read/30103350/mastication-and-oral-motor-function-in-mcardle-disease-patient-reported-complaints
#13
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
https://www.readbyqxmd.com/read/30102165/in-search-of-lost-time
#14
Barbara K Lipska, Elaine McArdle
No abstract text is available yet for this article.
August 4, 2018: Lancet
https://www.readbyqxmd.com/read/30091252/developing-a-model-of-factors-that-influence-meeting-the-needs-of-family-with-a-relative-in-icu
#15
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
https://www.readbyqxmd.com/read/30074569/retinal-dystrophy-in-a-patient-with-mcardle-disease
#16
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
https://www.readbyqxmd.com/read/30062860/are-serum-ferritin-and-transferrin-saturation-risk-markers-for-restless-legs-syndrome-in-young-adults-longitudinal-and-cross-sectional-data-from-the-western-australian-pregnancy-cohort-raine-study
#17
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
https://www.readbyqxmd.com/read/30040247/stem-cell-derived-retinal-pigment-epithelial-layer-model-from-adult-human-globes-donated-for-corneal-transplants
#18
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
https://www.readbyqxmd.com/read/30030676/correction-to-manifesting-heterozygotes-in-mcardle-disease-a-myth-or-a-reality-role-of-statins
#19
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
https://www.readbyqxmd.com/read/30016464/risk-factors-and-attack-rates-of-seasonal-influenza-infection-results-of-the-shivers-seroepidemiologic-cohort-study
#20
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
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