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https://read.qxmd.com/read/30738610/treatment-of-a-high-cardiovascular-risk-patient-with-mcardle-s-disease-with-pcsk9-inhibitors
#1
Victoria Marco-Benedí, Estíbaliz Jarauta, Sofía Pérez-Calahorra, Ana M Bea, Fernando Civeira
A 60-year-old male with familial combined hyperlipidemia, ischemic heart disease and type 2 diabetes. Since childhood, intolerance to intense exercise. The patient was diagnosed of McArdle's disease after an episode of rhabdomyolysis associated with statins as treatment after a myocardial infarction. Since then, he had been treated with diet, fibrates and ezetimibe with good tolerance, despite this, LDL cholesterol (cLDL) remained >180mg/dl. He started to be treated with alirocumab 150mg/sc every 14 days, with excellent clinical response and a decrease in cLDL to 15mg/dl...
February 6, 2019: Clínica e Investigación en Arteriosclerosis
https://read.qxmd.com/read/30736374/the-role-of-movement-analysis-in-diagnosing-and-monitoring-neurodegenerative-conditions-insights-from-gait-and-postural-control
#2
REVIEW
Christopher Buckley, Lisa Alcock, Ríona McArdle, Rana Zia Ur Rehman, Silvia Del Din, Claudia Mazzà, Alison J Yarnall, Lynn Rochester
Quantifying gait and postural control adds valuable information that aids in understanding neurological conditions where motor symptoms predominate and cause considerable functional impairment. Disease-specific clinical scales exist; however, they are often susceptible to subjectivity, and can lack sensitivity when identifying subtle gait and postural impairments in prodromal cohorts and longitudinally to document disease progression. Numerous devices are available to objectively quantify a range of measurement outcomes pertaining to gait and postural control; however, efforts are required to standardise and harmonise approaches that are specific to the neurological condition and clinical assessment...
February 6, 2019: Brain Sciences
https://read.qxmd.com/read/30674964/sp1-and-rar%C3%AE-regulate-agap2-expression-in-cancer
#3
Yegor Doush, Arif A Surani, Amaia Navarro-Corcuera, Stephanie McArdle, E Ellen Billett, Cristina Montiel-Duarte
AGAP2 (Arf GAP with GTP-binding protein-like domain, Ankyrin repeat and PH domain 2) isoform 2 is considered a proto-oncogene, but not much is known about AGAP2 gene expression regulation. To get some insight into this process, AGAP2 proximal promoter was cloned and characterised using reporter assays. We have identified SP1 as a transcription factor bound to AGAP2 promoter and required for AGAP2 expression in two different types of cancer cells (KU812, a chronic myeloid leukaemia cell line; and DU145, a prostate cancer cell line): silencing SP1 decreased AGAP2 protein levels...
January 23, 2019: Scientific Reports
https://read.qxmd.com/read/30670156/accelerated-sarcopenia-in-cu-zn-superoxide-dismutase-knockout-mice
#4
REVIEW
Sathyaseelan S Deepa, Holly Van Remmen, Susan V Brooks, John A Faulkner, Lisa Larkin, Anne McArdle, Malcolm J Jackson, Aphrodite Vasilaki, Arlan Richardson
Mice lacking Cu/Zn-superoxide dismutase (Sod1-/- or Sod1KO mice) show high levels of oxidative stress/damage and a 30% decrease in lifespan. The Sod1KO mice also show many phenotypes of accelerated aging with the loss of muscle mass and function being one of the most prominent aging phenotypes. Using various genetic models targeting the expression of Cu/Zn-superoxide dismutase to specific tissues, we evaluated the role of motor neurons and skeletal muscle in the accelerated loss of muscle mass and function in Sod1KO mice...
February 20, 2019: Free Radical Biology & Medicine
https://read.qxmd.com/read/30665616/an-introduction-to-a-special-issue-of-free-radical-biology-and-medicine-reactive-oxygen-species-and-musculoskeletal-aging
#5
EDITORIAL
Anne McArdle, Malcolm J Jackson
No abstract text is available yet for this article.
February 20, 2019: Free Radical Biology & Medicine
https://read.qxmd.com/read/30665197/overcoming-barriers-to-self-management-the-person-centred-diabetes-foot-behavioural-agreement
#6
REVIEW
Benjamin Bullen, Matthew Young, Carla McArdle, Mairghread Ellis
OBJECTIVE: Behavioural agreements have been proposed as a clinical strategy for improving concordance with diabetes foot self-management practices, both for individuals 'At-risk' of, and with active, diabetes foot disease. This narrative review sought to explore the potential supportive role of person-centred diabetes foot behavioural agreements in promoting protective foot self-management behaviours among 'At-risk' individuals. CONCLUSIONS: Health care professionals (HCPs) involved in diabetes foot risk stratification and management dedicate considerable time, effort and resources to the prevention of diabetic foot ulcers (DFU) and lower extremity amputation (LEA) and are uniquely placed to deliver person-centred diabetes self-management education and support (DSMES) interventions...
January 11, 2019: Foot
https://read.qxmd.com/read/30661475/sustained-decrease-in-blood-pressure-and-reduced-anatomical-and-functional-reinnervation-of-renal-nerves-in-hypertensive-sheep-30-months-after-catheter-based-renal-denervation
#7
Reetu R Singh, Zoe M McArdle, Michael Iudica, Lawrence K Easton, Lindsea C Booth, Clive N May, Helena C Parkington, Paul Lombardo, Geoff A Head, Gavin Lambert, Karen M Moritz, Markus P Schlaich, Kate M Denton
We examined whether renal denervation (RDN) reduced blood pressure (BP), improved glomerular filtration rate, albuminuria, and left ventricular mass in sheep with hypertensive chronic kidney disease (CKD). To examine whether renal nerve function returned in the long term, we examined vascular contraction to nerve stimulation in renal arteries and determined nerve regrowth by assessing renal TH (tyrosine hydroxylase), CGRP (calcitonin gene-related peptide), and norepinephrine levels in kidneys at 30 months after RDN...
January 21, 2019: Hypertension
https://read.qxmd.com/read/30652699/modulating-the-expression-of-chirality-in-a-mechanically-chiral-rotaxane
#8
Charles E Gell, Timur A McArdle-Ismaguilov, Nicholas H Evans
The expression of mechanical chirality by a hydrogen bond templated rotaxane, as detected by 1H NMR spectroscopy, may be modulated by affecting the co-conformational behaviour of the rotaxane through varying solvent or by addition of acid and base.
January 17, 2019: Chemical Communications: Chem Comm
https://read.qxmd.com/read/30651383/genetic-and-lifestyle-risk-factors-for-mri-defined-brain-infarcts-in-a-population-based-setting
#9
Ganesh Chauhan, Hieab H H Adams, Claudia L Satizabal, Joshua C Bis, Alexander Teumer, Muralidharan Sargurupremraj, Edith Hofer, Stella Trompet, Saima Hilal, Albert Vernon Smith, Xueqiu Jian, Rainer Malik, Matthew Traylor, Sara L Pulit, Philippe Amouyel, Bernard Mazoyer, Yi-Cheng Zhu, Sara Kaffashian, Sabrina Schilling, Gary W Beecham, Thomas J Montine, Gerard D Schellenberg, Olafur Kjartansson, Vilmundur Guðnason, David S Knopman, Michael E Griswold, B Gwen Windham, Rebecca F Gottesman, Thomas H Mosley, Reinhold Schmidt, Yasaman Saba, Helena Schmidt, Fumihiko Takeuchi, Shuhei Yamaguchi, Toru Nabika, Norihiro Kato, Kumar B Rajan, Neelum T Aggarwal, Philip L De Jager, Denis A Evans, Bruce M Psaty, Jerome I Rotter, Kenneth Rice, Oscar L Lopez, Jiemin Liao, Christopher Chen, Ching-Yu Cheng, Tien Y Wong, Mohammad K Ikram, Sven J van der Lee, Najaf Amin, Vincent Chouraki, Anita L DeStefano, Hugo J Aparicio, Jose R Romero, Pauline Maillard, Charles DeCarli, Joanna M Wardlaw, Maria Del C Valdés Hernández, Michelle Luciano, David Liewald, Ian J Deary, John M Starr, Mark E Bastin, Susana Muñoz Maniega, P Eline Slagboom, Marian Beekman, Joris Deelen, Hae-Won Uh, Robin Lemmens, Henry Brodaty, Margaret J Wright, David Ames, Giorgio B Boncoraglio, Jemma C Hopewell, Ashley H Beecham, Susan H Blanton, Clinton B Wright, Ralph L Sacco, Wei Wen, Anbupalam Thalamuthu, Nicola J Armstrong, Elizabeth Chong, Peter R Schofield, John B Kwok, Jeroen van der Grond, David J Stott, Ian Ford, J Wouter Jukema, Meike W Vernooij, Albert Hofman, André G Uitterlinden, Aad van der Lugt, Katharina Wittfeld, Hans J Grabe, Norbert Hosten, Bettina von Sarnowski, Uwe Völker, Christopher Levi, Jordi Jimenez-Conde, Pankaj Sharma, Cathie L M Sudlow, Jonathan Rosand, Daniel Woo, John W Cole, James F Meschia, Agnieszka Slowik, Vincent Thijs, Arne Lindgren, Olle Melander, Raji P Grewal, Tatjana Rundek, Kathy Rexrode, Peter M Rothwell, Donna K Arnett, Christina Jern, Julie A Johnson, Oscar R Benavente, Sylvia Wasssertheil-Smoller, Jin-Moo Lee, Quenna Wong, Braxton D Mitchell, Stephen S Rich, Patrick F McArdle, Mirjam I Geerlings, Yolanda van der Graaf, Paul I W de Bakker, Folkert W Asselbergs, Velandai Srikanth, Russell Thomson, Rebekah McWhirter, Chris Moran, Michele Callisaya, Thanh Phan, Loes C A Rutten-Jacobs, Steve Bevan, Christophe Tzourio, Karen A Mather, Perminder S Sachdev, Cornelia M van Duijn, Bradford B Worrall, Martin Dichgans, Steven J Kittner, Hugh S Markus, Mohammad A Ikram, Myriam Fornage, Lenore J Launer, Sudha Seshadri, W T Longstreth, Stéphanie Debette
OBJECTIVE: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. METHODS: We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI...
January 16, 2019: Neurology
https://read.qxmd.com/read/30622198/predictors-of-30-day-return-following-an-emergency-department-visit-for-older-adults
#10
Kevin Biese, Mark Massing, Timothy F Platts-Mills, Josh Young, Jill McArdle, Joseph A Dayaa, Ross Simpson
BACKGROUND Older adults who are discharged following emergency department evaluation are at increased risk for functional decline and health care utilization, and are likely to benefit from close follow-up and additional care services. Understanding factors associated with a return emergency department visit within 30 days among older fee-for-service Medicare beneficiaries discharged to the community may assist in identifying patients at greatest need for interventions. METHOD Predictors from Medicare data and public sources were evaluated in a retrospective data analysis of North and South Carolina residents (2011-2012) aged ≥ 65 years using Cox regression proportion hazards ratios (HR) and 95% confidence intervals (CI) for time-to-30-day return events...
January 2019: North Carolina Medical Journal
https://read.qxmd.com/read/30584597/atrial-fibrillation-genetic-risk-differentiates-cardioembolic-stroke-from-other-stroke-subtypes
#11
Sara L Pulit, Lu-Chen Weng, Patrick F McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D Mitchell, Jonathan Rosand, Paul I W de Bakker, Emelia J Benjamin, Patrick T Ellinor, Steven J Kittner, Steven A Lubitz, Christopher D Anderson
Objective: We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. Methods: We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors...
December 2018: Neurology. Genetics
https://read.qxmd.com/read/30575208/volume-targeted-pressure-support-and-automatic-epap-for-chronic-hypoventilation-syndromes-an-advance-in-home-ventilation-or-just-more-noise
#12
REVIEW
Nigel McArdle
Early in the history of non-invasive ventilation (NIV) for disorders of hypoventilation, treatment was provided by volume-limited (VL) devices. Currently, NIV is commonly provided by pressure-limited (PL) devices because of greater portability, lower cost and studies showing increased patient comfort. There are now volume-targeted (VT) devices, which aim to combine the advantages of more stable ventilation associated with VL and greater comfort of PL mode. VT devices automatically adjust pressure support, within a defined range, to target a preset level of ventilation...
December 21, 2018: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://read.qxmd.com/read/30569575/non-hydrolytic-%C3%AE-lactam-antibiotic-fragmentation-by-l-d-transpeptidases-and-serine-%C3%AE-lactamase-cysteine-variants
#13
Christopher T Lohans, H T Henry Chan, Tika R Malla, Kiran Kumar, Jos J A G Kamps, Darius J B McArdle, Emma van Groesen, Mariska de Munnik, Catherine L Tooke, James Spencer, Robert S Paton, Jürgen Brem, Christopher Schofield
Enzymes often use nucleophilic serine, threonine, and cysteine residues to achieve the same type of reaction; the underlying reasons for this are not understood. While bacterial D,D-transpeptidases (penicillin-binding proteins) employ a nucleophilic serine, L,D-transpeptidases use a nucleophilic cysteine. The covalent complexes formed from L,D-transpeptidases with some β-lactam antibiotics undergo non-hydrolytic fragmentation not usually observed for penicillin-binding proteins, or for the related serine β-lactamases...
December 20, 2018: Angewandte Chemie
https://read.qxmd.com/read/30560358/muscle-diffusion-tensor-imaging-in-glycogen-storage-disease-v-mcardle-disease
#14
R Rehmann, L Schlaffke, M Froeling, R A Kley, E Kühnle, M De Marées, J Forsting, M Rohm, M Tegenthoff, T Schmidt-Wilcke, M Vorgerd
PURPOSE: To evaluate differences in diffusion parameters in thigh muscles in patients with glycogen storage disease type V (McArdle disease) using muscle diffusion tensor imaging (mDTI) compared to healthy controls METHODS: In this prospective study, we evaluated thigh muscles from hip to knee of 10 McArdle patients (5 female, mean age 33.7 ± 14.4 years) and 10 healthy age- and gender-matched volunteers. MRI scans were performed at 3 T and comprised mDTI, T1-weighted and T2-weighted imaging between May 2015 and May 2017...
December 17, 2018: European Radiology
https://read.qxmd.com/read/30552252/evaluation-of-stakeholder-views-on-peer-review-of-nihr-applications-for-funding-a-qualitative-study
#15
Sheila Turner, Abby Bull, Fay Chinnery, Jeremy Hinks, Nicola Mcardle, Rebecca Moran, Helen Payne, Eleanor Woodford Guegan, Louise Worswick, Jeremy C Wyatt
OBJECTIVES: Innovations resulting from research have both national and global impact, so selecting the most promising research studies to fund is crucial. Peer review of research funding applications is part of the selection process, and requires considerable resources. This study aimed to elicit stakeholder opinions about which factors contribute to and influence effective peer review of funding applications to the UK National Institute for Health Research (NIHR), and to identify possible minor improvements to current processes and any major changes or potential innovations to achieve a more efficient peer review process...
December 14, 2018: BMJ Open
https://read.qxmd.com/read/30552251/influence-of-external-peer-reviewer-scores-for-funding-applications-on-funding-board-decisions-a-retrospective-analysis-of-1561-reviews
#16
Lexy Sorrell, Nicola Mcardle, Taeko Becque, Helen Payne, Beth Stuart, Sheila Turner, Jeremy C Wyatt
OBJECTIVES: To evaluate the influence of external peer reviewer scores on the National Institute for Health Research (NIHR) research funding board decisions by the number of reviewers and type of reviewer expertise. DESIGN: Retrospective analysis of external peer review scores for shortlisted full applications for funding (280 funding applications, 1236 individual reviewers, 1561 review scores). SETTING: Four applied health research funding programmes of NIHR, UK...
December 14, 2018: BMJ Open
https://read.qxmd.com/read/30534954/cardiac-manifestations-of-mcardle-disease
#17
Daniel M Jones, Luis Lopes, Rosaline Quinlivan, Perry M Elliott, Mohammed Y Khanji
No abstract text is available yet for this article.
December 7, 2018: European Heart Journal
https://read.qxmd.com/read/30509783/total-tiroidectomy-in-patient-with-mcardle-s-syndrome-anesthetic-management
#18
A V Quintero Salvago, J D Leal Del Ojo Del Ojo, L Barrios Rodríguez, J J Fedriani de Matos, I Morgado Muñoz
McArdle disease or type V glycogenosis is a rare metabolic myopathy consisting of muscle loss and weakness. These patients have risks associated with anaesthesia. They can present with hypoglycaemia, rhabdomyolysis, acute renal failure, and electrolyte changes. It has also been associated with a higher incidence of malignant hyperthermia during the anaesthetic procedure. Intermittent compression due to the measurement of non-invasive pressure, postures on the operating table that may cause muscle contractures, or tremor caused by hypothermia or anaesthesia itself, may trigger rhabdomyolysis in these patients...
November 30, 2018: Revista Española de Anestesiología y Reanimación
https://read.qxmd.com/read/30508577/aberrant-redox-signalling-and-stress-response-in-age-related-muscle-decline-role-in-inter-and-intra-cellular-signalling
#19
REVIEW
Anne McArdle, Natalie Pollock, Caroline A Staunton, Malcolm J Jackson
Age-associated frailty is predominantly due to loss of muscle mass and function. The loss of muscle mass is also associated with a greater loss of muscle strength, suggesting that the remaining muscle fibres are weaker than those of adults. The mechanisms by which muscle is lost with age are unclear, but in this review we aim to pull together various strands of evidence to explain how muscle contractions support proteostasis in non-muscle tissues, particularly focussed on the production and potential transfer of Heat Shock Proteins (HSPs) and how this may fail during ageing, Furthermore we will identify logical approaches, based on this hypothesis, by which muscle loss in ageing may be reduced...
November 30, 2018: Free Radical Biology & Medicine
https://read.qxmd.com/read/30487278/identification-and-functional-characterization-of-a-novel-fc-gamma-binding-glycoprotein-in-rhesus-cytomegalovirus
#20
Philipp Kolb, Steven Sijmons, Matthew R McArdle, Husam Taher, Jennie Womack, Colette Hughes, Abigail Ventura, Michael A Jarvis, Christiane Stahl-Hennig, Scott Hansen, Louis J Picker, Daniel Malouli, Hartmut Hengel, Klaus Früh
Receptors recognizing the Fc part of immunoglobulin G (FcγRs) are key determinants in antibody-mediated immune responses. Members of the Herpesviridae interfere with this immune regulatory network by expressing viral FcγRs (vFcγRs). Human cytomegalovirus (HCMV) encodes four distinct vFcγRs that differ with respect to their IgG-subtype specificity and their impact on antibody-mediated immune function in vitro The impact of vFcγRs on HCMV pathogenesis and immunomodulation in vivo is not known. The evolutionary closest animal model of HCMV is rhesus CMV (RhCMV) infection of rhesus macaques...
November 28, 2018: Journal of Virology
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