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https://www.readbyqxmd.com/read/28887083/pres-leading-to-the-diagnosis-of-mcardle-disease
#1
Jennifer M Martinez-Thompson, Sean J Pittock, Margherita Milone
A 35year-old male developed myalgias after moving furniture and was hospitalized with acute renal failure and rhabdomyolysis requiring hemodialysis. He then had several generalized tonic-clonic seizures. Brain MRI showed findings of posterior reversible encephalopathy syndrome (PRES). Interval history revealed easy fatigability and exercise-induced myalgias in childhood but no preceding history of urine discoloration. Quadriceps biopsy showed absent muscle myophosphorylase reactivity consistent with the diagnosis of McArdle disease...
September 5, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28882528/impaired-glycogen-breakdown-and-synthesis-in-phosphoglucomutase-1-deficiency
#2
Nicolai Preisler, Jonathan Cohen, Christoffer Rasmus Vissing, Karen Lindhardt Madsen, Katja Heinicke, Lydia Jane Sharp, Lauren Phillips, Nadine Romain, Sun Young Park, Marta Newby, Phil Wyrick, Pedro Mancias, Henrik Galbo, John Vissing, Ronald Gerald Haller
OBJECTIVE: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis. METHODS: We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response...
August 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28870272/in-rats-gestational-iron-deficiency-does-not-change-body-fat-or-hepatic-mitochondria-in-the-aged-offspring
#3
W D Rees, S M Hay, H E Hayes, C Birgovan, H J McArdle
Mitochondrial dysfunction and resulting changes in adiposity have been observed in the offspring of animals fed a high fat (HF) diet. As iron is an important component of the mitochondria, we have studied the offspring of female rats fed complete (Con) or iron-deficient (FeD) rations for the duration of gestation to test for similar effects. The FeD offspring were ~12% smaller at weaning and remained so because of a persistent reduction in lean tissue mass. The offspring were fed a complete (stock) diet until 52 weeks of age after which some animals from each litter were fed a HF diet for a further 12 weeks...
September 5, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28865259/current-margin-practice-and-effect-on-re-excision-rates-following-the-publication-of-the-sso-astro-consensus-and-abs-consensus-guidelines-a-national-prospective-study-of-2858-women-undergoing-breast-conserving-therapy-in-the-uk-and-ireland
#4
Sarah Shuk-Kay Tang, Sarantos Kaptanis, James B Haddow, Giuseppina Mondani, Beatrix Elsberger, Marios Konstantinos Tasoulis, Christine Obondo, Neil Johns, Wisam Ismail, Asim Syed, Panayioti Kissias, Mary Venn, Souganthy Sundaramoorthy, Gareth Irwin, Amtul S Sami, Dalia Elfadl, Alice Baggaley, Dionysios Dennis Remoundos, Fiona Langlands, Petros Charalampoudis, Zoe Barber, Werbena L S Hamilton-Burke, Ayesha Khan, Chiara Sirianni, Louise Anne-Marie Grant Merker, Sunita Saha, Risha Arun Lane, Sharat Chopra, Sophie Dupré, Aiden T Manning, Edward R St John, Aya Musbahi, Nokwanda Dlamini, Caitlin L McArdle, Chloe Wright, James O Murphy, Ravi Aggarwal, Matei Dordea, Karen Bosch, Donna Egbeare, Hisham Osman, Salim Tayeh, Faraz Razi, Javeria Iqbal, Serena F C Ledwidge, Vanessa Albert
INTRODUCTION: There is variation in margin policy for breast conserving therapy (BCT) in the UK and Ireland. In response to the Society of Surgical Oncology and American Society for Radiation Oncology (SSO-ASTRO) margin consensus ('no ink on tumour' for invasive and 2 mm for ductal carcinoma in situ [DCIS]) and the Association of Breast Surgery (ABS) consensus (1 mm for invasive and DCIS), we report on current margin practice and unit infrastructure in the UK and Ireland and describe how these factors impact on re-excision rates...
August 29, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28852707/design-and-rationale-for-examining-neuroimaging-genetics-in-ischemic-stroke-the-mri-genie-study
#5
Anne-Katrin Giese, Markus D Schirmer, Kathleen L Donahue, Lisa Cloonan, Robert Irie, Stefan Winzeck, Mark J R J Bouts, Elissa C McIntosh, Steven J Mocking, Adrian V Dalca, Ramesh Sridharan, Huichun Xu, Petrea Frid, Eva Giralt-Steinhauer, Lukas Holmegaard, Jaume Roquer, Johan Wasselius, John W Cole, Patrick F McArdle, Joseph P Broderick, Jordi Jimenez-Conde, Christina Jern, Brett M Kissela, Dawn O Kleindorfer, Robin Lemmens, Arne Lindgren, James F Meschia, Tatjana Rundek, Ralph L Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Vincent Thijs, Daniel Woo, Bradford B Worrall, Steven J Kittner, Braxton D Mitchell, Jonathan Rosand, Polina Golland, Ona Wu, Natalia S Rost
OBJECTIVE: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. METHODS: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28818596/cardiometabolic-phenotypes-and-mitochondrial-dna-copy-number-in-two-cohorts-of-uk-women
#6
Anna L Guyatt, Kimberley Burrows, Philip A I Guthrie, Sue Ring, Wendy McArdle, Ian N M Day, Raimondo Ascione, Debbie A Lawlor, Tom R Gaunt, Santiago Rodriguez
The mitochondrial genome is present at variable copy number between individuals. Mitochondria are vulnerable to oxidative stress, and their dysfunction may be associated with cardiovascular disease. The association of mitochondrial DNA copy number with cardiometabolic risk factors (lipids, glycaemic traits, inflammatory markers, anthropometry and blood pressure) was assessed in two independent cohorts of European origin women, one in whom outcomes were measured at mean (SD) age 30 (4.3) years (N=2278) and the second at 69...
August 15, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28800603/genetic-variants-specific-to-aging-related-verbal-memory-insights-from-gwass-in-a-population-based-cohort
#7
Thalida E Arpawong, Neil Pendleton, Krisztina Mekli, John J McArdle, Margaret Gatz, Chris Armoskus, James A Knowles, Carol A Prescott
Verbal memory is typically studied using immediate recall (IR) and delayed recall (DR) scores, although DR is dependent on IR capability. Separating these components may be useful for deciphering the genetic variation in age-related memory abilities. This study was conducted to (a) construct individual trajectories in IR and independent aspects of delayed recall, or residualized-DR (rDR), across older adulthood; and (b) identify genetic markers that contribute to four estimated phenotypes: IR and rDR levels and changes after age 60...
2017: PloS One
https://www.readbyqxmd.com/read/28796012/successful-electroconvulsive-therapy-for-a-patient-with-mcardle-disease
#8
Francois-Xavier Robert, Pauline Modica, Guillaume Lagrange, David Delahaye, François Prima, Philippe Vilcoq, Jacques Albanese, Christophe Lançon, Raphaëlle Richieri
No abstract text is available yet for this article.
August 9, 2017: Journal of ECT
https://www.readbyqxmd.com/read/28792061/role-of-nerve-muscle-interactions-and-reactive-oxygen-species-in-regulation-of-muscle-proteostasis-with-ageing
#9
Aphrodite Vasilaki, Arlan Richardson, Holly Van Remmen, Susan V Brooks, Lisa Larkin, Anne McArdle, Malcolm J Jackson
Skeletal muscle ageing is characterised by atrophy, a deficit in specific force generation, increased susceptibility to injury, and incomplete recovery after severe damage. The hypothesis that increased generation of reactive oxygen species (ROS) in vivo plays a key role in the ageing process has been extensively studied, but remains controversial. Skeletal muscle generates ROS at rest and during exercise. ROS can cause oxidative damage particularly to proteins. Indeed, products of oxidative damage accumulate in skeletal muscle during ageing and the ability of muscle cells to respond to increased ROS becomes defective...
August 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28781767/senescence-in-the-aging-process
#10
REVIEW
Richard Ga Faragher, Anne McArdle, Alison Willows, Elizabeth L Ostler
The accumulation of 'senescent' cells has long been proposed to act as an ageing mechanism. These cells display a radically altered transcriptome and degenerative phenotype compared with their growing counterparts. Tremendous progress has been made in recent years both in understanding the molecular mechanisms controlling entry into the senescent state and in the direct demonstration that senescent cells act as causal agents of mammalian ageing. The challenges now are to gain a better understanding of how the senescent cell phenotype varies between different individuals and tissues, discover how senescence predisposes to organismal frailty, and develop mechanisms by which the deleterious effects of senescent cells can be ameliorated...
2017: F1000Research
https://www.readbyqxmd.com/read/28760599/gonadotropin-releasing-hormone-signaling-an-information-theoretic-approach
#11
REVIEW
Margaritis Voliotis, Kathryn L Garner, Hussah Alobaid, Krasimira Tsaneva-Atanasova, Craig A McArdle
Gonadotropin-releasing hormone (GnRH) is a peptide hormone that mediates central control of reproduction, acting via G-protein coupled receptors that are primarily Gq coupled and mediate GnRH effects on the synthesis and secretion of luteinizing hormone and follicle-stimulating hormone. A great deal is known about the GnRH receptor signaling network but GnRH is secreted in short pulses and much less is known about how gonadotropes decode this pulsatile signal. Similarly, single cell measures reveal considerable cell-cell heterogeneity in responses to GnRH but the impact of this variability on signaling is largely unknown...
July 29, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28752234/implementing-a-tobacco-free-hospital-campus-in-ireland-lessons-learned
#12
D McArdle, Z Kabir
BACKGROUND: The Irish Health Service Executive (HSE) had set a target that all HSE facilities should implement the HSE Tobacco Free Campus (TFC) policy by 2015. AIM: The aims of this study are to examine hospital staff awareness and to assess the progress of selected HSE health care facilities towards a TFC policy. METHODS: Three health care facilities that were conveniently located were self-selected in County Cork, namely, an acute hospital, a mental health service and an older person's facility...
July 27, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28748366/clinical-features-of-psoriatic-arthritis-a-comprehensive-review-of-unmet-clinical-needs
#13
REVIEW
Angela McArdle, Stephen Pennington, Oliver FitzGerald
Psoriatic arthritis (PsA) is a form of inflammatory arthritis (IA) affecting approximately 0.25% of the population. It is a heterogeneous disorder associated with joint damage, disability, disfiguring skin disease and in severe cases, premature mortality. Inherently irreversible and frequently progressive, the process of joint damage begins at, or before, the clinical onset of disease. Early recognition and intervention is thus crucial to patient outcome. At disease onset, however, PsA often resembles other forms of arthritis-especially rheumatoid arthritis (RA)...
July 27, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28743190/effect-of-obstructive-sleep-apnea-treatment-on-renal-function-in-patients-with-cardiovascular-disease
#14
Kelly A Loffler, Emma Heeley, Ruth Freed, Craig S Anderson, Ben Brockway, Alastair Corbett, Catharina L Chang, James A Douglas, Katherine Ferrier, Neil Graham, Garun S Hamilton, Michael Hlavac, Nigel McArdle, John McLachlan, Sutapa Mukherjee, Matthew T Naughton, Francis Thien, Alan Young, Ronald R Grunstein, Lyle J Palmer, Richard J Woodman, Patrick J Hanly, R Doug McEvoy
RATIONALE: Obstructive sleep apnea (OSA) is associated with impaired renal function, but uncertainty exists over whether OSA treatment can influence renal outcomes. OBJECTIVES: To determine the effects of continuous positive airway pressure (CPAP) on renal function in subjects with co-existing OSA and cardiovascular disease. METHODS: This was a substudy of the international Sleep Apnea and cardioVascular Endpoints (SAVE) trial that randomized 2717 patients with moderate-severe OSA and established coronary or cerebrovascular disease to receive CPAP plus usual care, or usual care alone...
July 25, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28739532/denervated-muscle-fibers-induce-mitochondrial-peroxide-generation-in-neighboring-innervated-fibers-role-in-muscle-aging
#15
Natalie Pollock, Caroline A Staunton, Aphrodite Vasilaki, Anne McArdle, Malcolm J Jackson
Disruption of neuromuscular junctions and denervation of some muscle fibers occurs in ageing skeletal muscle and contribute to loss of muscle mass and function. Aging is associated with mitochondrial dysfunction and loss of redox homeostasis potentially occurs through increased mitochondrial generation of reactive oxygen species (ROS). No specific link between increased mitochondrial ROS generation and denervation has been defined in muscle ageing. To address this, we have examined the effect of experimental denervation of all fibers, or only a proportion of the fibers, in the mouse tibialis anterior (TA) muscle on muscle mitochondrial peroxide generation...
July 21, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28716914/metabolic-profiles-of-exercise-in-patients-with-mcardle-disease-or-mitochondrial-myopathy
#16
Nigel F Delaney, Rohit Sharma, Laura Tadvalkar, Clary B Clish, Ronald G Haller, Vamsi K Mootha
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated...
August 1, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28705462/effectiveness-of-a-group-b-outer-membrane-vesicle-meningococcal-vaccine-against-gonorrhoea-in-new-zealand-a-retrospective-case-control-study
#17
Helen Petousis-Harris, Janine Paynter, Jane Morgan, Peter Saxton, Barbara McArdle, Felicity Goodyear-Smith, Steven Black
BACKGROUND: Gonorrhoea is a major global public health problem that is exacerbated by drug resistance. Effective vaccine development has been unsuccessful, but surveillance data suggest that outer membrane vesicle meningococcal group B vaccines affect the incidence of gonorrhoea. We assessed vaccine effectiveness of the outer membrane vesicle meningococcal B vaccine (MeNZB) against gonorrhoea in young adults aged 15-30 years in New Zealand. METHODS: We did a retrospective case-control study of patients at sexual health clinics aged 15-30 years who were born between Jan 1, 1984, and Dec 31, 1998, eligible to receive MeNZB, and diagnosed with gonorrhoea or chlamydia, or both...
July 7, 2017: Lancet
https://www.readbyqxmd.com/read/28703894/comparison-of-resting-energy-equations-and-total-energy-expenditure-in-haemodialysis-patients-and-body-composition-measured-by-multi-frequency-bioimpedance
#18
Ben Oliveira, Sivakumar Sridharan, Ken Farrington, Andrew Davenport
BACKGROUND: Waste products of metabolism are retained in haemodialysis (HD) patients. Cellular metabolism generates energy, and patients with greater energy expenditure may therefore require more dialysis. To determine the amount of dialysis required, equations estimating resting and total energy expenditure (REE,TEE) are required. METHODS: We compared estimates of REE in HD patients using established equations with a novel equation recently validated in HD patients (HD equation)...
July 13, 2017: Nephrology
https://www.readbyqxmd.com/read/28699441/maintaining-standards-in-difficult-times
#19
Jennifer Trueland
'We're in a good place in nursing - we've got high-calibre students emerging, and there's a huge opportunity for nurses to lead change', says Northern Ireland's chief nurse Charlotte McArdle.
July 12, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28698308/the-role-of-attenuated-redox-and-heat-shock-protein-responses-in-the-age-related-decline-in-skeletal-muscle-mass-and-function
#20
REVIEW
Anne McArdle, Malcolm J Jackson
The loss of muscle mass and weakness that accompanies ageing is a major contributor to physical frailty and loss of independence in older people. A failure of muscle to adapt to physiological stresses such as exercise is seen with ageing and disruption of redox regulated processes and stress responses are recognized to play important roles in theses deficits. The role of redox regulation in control of specific stress responses, including the generation of heat shock proteins (HSPs) by muscle appears to be particularly important and affected by ageing...
July 15, 2017: Essays in Biochemistry
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