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https://www.readbyqxmd.com/read/28716914/metabolic-profiles-of-exercise-in-patients-with-mcardle-disease-or-mitochondrial-myopathy
#1
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...
July 17, 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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28670532/are-predictive-equations-for-estimating-resting-energy-expenditure-accurate-in-asian-indian-male-weightlifters
#6
Mini Joseph, Riddhi Das Gupta, L Prema, Mercy Inbakumari, Nihal Thomas
BACKGROUND: The accuracy of existing predictive equations to determine the resting energy expenditure (REE) of professional weightlifters remains scarcely studied. Our study aimed at assessing the REE of male Asian Indian weightlifters with indirect calorimetry and to compare the measured REE (mREE) with published equations. A new equation using potential anthropometric variables to predict REE was also evaluated. MATERIALS AND METHODS: REE was measured on 30 male professional weightlifters aged between 17 and 28 years using indirect calorimetry and compared with the eight formulas predicted by Harris-Benedicts, Mifflin-St...
July 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28660497/mcardle-disease-a-pediatric-disorder-presenting-in-an-adult-with-acute-kidney-injury
#7
Xixi Zhao, Angela Li, Madhu Soni, Michael J Muriello, Carolyn H Jones, William L Whittier
Rhabdomyolysis is characterized by the acute breakdown of skeletal muscle, resulting in the release of muscle cell contents, subsequent myoglobinuria, and in severe cases, acute renal failure. A number of etiologies have been identified in acute rhabdomyolysis, in which drugs and trauma account for the majority of cases. One etiological category that is commonly overlooked in the adult population is an underlying genetic defect. This may be challenging to diagnose due to its rarity in the adult demographic and the marked heterogeneity, often requiring a high level of clinical suspicion before investigation is pursued...
June 28, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28649515/higher-oxidative-stress-in-skeletal-muscle-of-mcardle-disease-patients
#8
Jan J Kaczor, Holly A Robertshaw, Mark A Tarnopolsky
McArdle disease (MCD) is an autosomal recessive condition resulting from skeletal muscle glycogen phosphorylase deficiency. The resultant block in glycogenolysis leads to an increased flux through the xanthine oxidase pathway (myogenic hyperuricemia) and could lead to an increase in oxidative stress. We examined markers of oxidative stress (8-isoprostane and protein carbonyls), NAD(P)H-oxidase, xanthine oxidase and antioxidant enzyme (superoxide dismutase, catalase and glutathione peroxidase) activity in skeletal muscle of MCD patients (N = 12) and controls (N = 12)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28646704/location-and-characterization-of-lignin-in-tracheid-cell-walls-of-radiata-pine-pinus-radiata-d-don-compression-woods
#9
Miao Zhang, Catherine Lapierre, Noor Liyana Nouxman, Michel K Nieuwoudt, Bronwen G Smith, Ramesh R Chavan, Brian H McArdle, Philip J Harris
Tilted stems of softwoods form compression wood (CW) and opposite wood (OW) on their lower and upper sides, respectively. More is known about the most severe form of CW, severe CW (SCW), but mild CWs (MCWs) also occur widely. Two grades of MCWs, MCW1 and MCW2, as well as SCW and OW were identified in the stems of radiata pine (Pinus radiata) that had been slightly tilted. The four wood types were identified by the distribution of lignin in the tracheid walls determined by fluorescence microscopy. A solution of the fluorescent dye acridine orange (AO) (0...
June 15, 2017: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/28645175/perturbation-to-cholesterol-at-the-neuromuscular-junction-confers-botulinum-neurotoxin-a-sensitivity-to-neonatal-mice
#10
Baskaran Thyagarajan, Joseph G Potian, Joseph J McArdle, Padmamalini Baskaran
Botulinum neurotoxin A (BoNT/A) cleaves SNAP25 at the motor nerve terminals (MNT) and inhibits stimulus evoked acetylcholine release (SEAR). This causes skeletal muscle paralysis. However, younger neonatal mice (<P7; less than 7 days old) are resistant to the neuroparalytic effects of BoNT/A. That is, in vivo injection of BoNT/A at the innervations of Extensor digitorum longus (EDL) muscle in the hindlimbs inhibited the toe spread reflex within 24 hours following BoNT/A injection in adult mouse and in older (> P7) neonatal mice younger than 7 days-age remained unaffected by BoNT/A injection...
June 22, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28633812/sonochemical-synthesis-of-a-new-cobalt-ii-complex-crystal-structure-thermal-behavior-hirshfeld-surface-analysis-and-its-usage-as-precursor-for-preparation-of-coo-co3o4-nanoparticles
#11
Morteza Montazerozohori, Ardavan Masoudiasl, Sara Farokhiyani, Shiva Joohari, Patrick McArdle
A bidentate Schiff base ligand and its nano-structured cobalt(II) complex were synthesized under ultrasound irradiation and then their structures were identified by physical and spectral techniques SEM and XRD techniques were used to confirm the nanostructure character of the complex. Single crystal X-ray diffraction analysis showed that the complex crystallizes in the triclinic system with space group of P1¯ and two crystallographically independent molecules participate in its asymmetric unit. In the structure of complex, cobalt center is four-coordinated by two iminic nitrogens of bidentate Schiff base ligand and two bromide anions in a distorted tetrahedral geometry...
September 2017: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/28629675/misdiagnosis-is-an-important-factor-for-diagnostic-delay-in-mcardle-disease
#12
Renata Siciliani Scalco, Jasper M Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan
Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45)...
May 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28617122/how-to-make-a-career-in-emergency-nursing
#13
Frances Cannon, Linsey Sheerin, Roisin Devlin
The Professional Framework for Emergency Care Nursing was officially launched at the Northern Ireland Practice and Education Council (NIPEC) annual conference in March. It was born from chief nursing officer Charlotte McArdle asking NIPEC to collaborate with the local RCN emergency care network to further the professional development of the emergency nursing workforce in Northern Ireland.
June 15, 2017: Emergency Nurse: the Journal of the RCN Accident and Emergency Nursing Association
https://www.readbyqxmd.com/read/28608753/quantitative-assessment-of-copper-proteinates-used-as-animal-feed-additives-using-atr-ftir-spectroscopy-and-powder-x-ray-diffraction-pxrd-analysis
#14
Caoimhe A Cantwell, Laurann A Byrne, Cathal D Connolly, Michael J Hynes, Patrick McArdle, Richard A Murphy
The aim of the present work was to establish a reliable analytical method to determine the degree of complexation in commercial metal proteinates used as feed additives in the solid state. Two complementary techniques were developed. Firstly, a quantitative attenuated total reflectance Fourier transform infrared (ATR-FTIR) spectroscopic method investigated modifications in vibrational absorption bands of the ligand on complex formation. Secondly, a powder X-ray diffraction (PXRD) method to quantify the amount of crystalline material in the proteinate product was developed...
July 11, 2017: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/28603561/distinct-dna-methylation-profiles-in-subtypes-of-orofacial-cleft
#15
Gemma C Sharp, Karen Ho, Amy Davies, Evie Stergiakouli, Kerry Humphries, Wendy McArdle, Jonathan Sandy, George Davey Smith, Sarah J Lewis, Caroline L Relton
BACKGROUND: Epigenetic data could help identify risk factors for orofacial clefts, either by revealing a causal role for epigenetic mechanisms in causing clefts or by capturing information about causal genetic or environmental factors. Given the evidence that different subtypes of orofacial cleft have distinct aetiologies, we explored whether children with different cleft subtypes showed distinct epigenetic profiles. METHODS: In whole-blood samples from 150 children from the Cleft Collective cohort study, we measured DNA methylation at over 450,000 sites on the genome...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28603011/a-comprehensive-spectroscopic-study-of-the-polymorphs-of-diflunisal-and-their-phase-transformations
#16
Anuradha R Pallipurath, Francesco Civati, Juraj Sibik, Clare Crowley, J Axel Zeitler, Patrick McArdle, Andrea Erxleben
Understanding phase transitions in pharmaceutical materials is of vital importance for drug manufacturing, processing and storage. In this paper we have carried out comprehensive high-resolution spectroscopic studies on the polymorphs of the non-steroidal anti-inflammatory drug diflunisal that has four known polymorphs, forms I-IV (FI-FIV), three of which have known crystal structures. Phase transformations during milling, heating, melt-quenching and exposure to high relative humidity were investigated using Raman and terahertz spectroscopy in combination with differential scanning calorimetry and X-ray powder diffraction...
June 8, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28601414/computed-tomography-diagnosis-of-terson-syndrome
#17
David J T McArdle, Sumit J Karia
No abstract text is available yet for this article.
June 7, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28597738/improved-diagnostic-accuracy-when-combining-computed-tomography-angiography-and-corrected-coronary-opacification-in-patients-with-coronary-stents
#18
Taylor F Dowsley, Leonid Chepelev, Brian McArdle, Mohammed Alam, Girish Dwivedi, Benjamin J W Chow
Background The accuracy of coronary computed tomography angiography (CCTA) is sub-optimal in patients with coronary stents. Methods that can increase its diagnostic accuracy are desirable. Objective A proof-of-concept study was undertaken to determine if corrected coronary opacification (CCO) differences can improve the accuracy of CCTA in stented coronary arteries. Methods PCI patients who underwent both CCTA and invasive coronary angiography (ICA) within 3 months were analyzed. Coronary luminal attenuation values (normalized to the aorta) were measured proximally and distally to coronary stents...
February 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28595673/neonatal-dna-methylation-and-early-onset-conduct-problems-a-genome-wide-prospective-study
#19
Charlotte A M Cecil, Esther Walton, Sara R Jaffee, Tom O'Connor, Barbara Maughan, Caroline L Relton, Rebecca G Smith, Wendy McArdle, Tom R Gaunt, Isabelle Ouellet-Morin, Edward D Barker
Early-onset conduct problems (CP) are a key predictor of adult criminality and poor mental health. While previous studies suggest that both genetic and environmental risks play an important role in the development of early-onset CP, little is known about potential biological processes underlying these associations. In this study, we examined prospective associations between DNA methylation (cord blood at birth) and trajectories of CP (4-13 years), using data drawn from the Avon Longitudinal Study of Parents and Children...
June 9, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28580070/isolated-spongy-urethral-rupture-from-abrupt-coital-distractive-force
#20
Brian J McArdle, Mark A Wille, Courtney Mp Hollowell
The classic presentation of penile fracture is a cracking or snap sound, with sharp pain, immediate detumescence, swelling, deformation and ecchymosis. A penile fracture involves rupture of the tunica albuginea of one or both corpora cavernosa. Concomitant urethral rupture is reported to occur in 10% to 20% of penile fracture cases. Isolated urethral injury without penile fracture is extremely rare. We report the first case of isolated pendulous urethral rupture from an abrupt coital distractive force. We include a literature review and discussion of isolated urethral trauma secondary to sexual intercourse...
February 2017: Journal of Radiology Case Reports
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