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https://www.readbyqxmd.com/read/29036556/deficit-in-pink1-parkin-mediated-mitochondrial-autophagy-at-late-stages-of-dystrophic-cardiomyopathy
#1
Chifei Kang, Myriam A Badr, Viktoriia Kyrychenko, Eeva-Liisa Eskelinen, Natalia Shirokova
Aims: Duchenne Muscular Dystrophy (DMD) is an inherited devastating muscle disease with severe and often lethal cardiac complications. Emerging evidence suggests that the evolution of the pathology in DMD is accompanied by the accumulation of mitochondria with defective structure and function. Here we investigate whether defects in the housekeeping autophagic pathway contribute to mitochondrial and metabolic dysfunctions in dystrophic cardiomyopathy. Methods and results: We employed various biochemical and imaging techniques to assess mitochondrial structure and function as well as to evaluate autophagy, and specific mitochondrial autophagy (mitophagy), in hearts of mdx mice, an animal model of DMD...
October 5, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29034082/functional-characterizations-of-rare-uba1-variants-in-x-linked-spinal-muscular-atrophy
#2
Chris D Balak, Jesse M Hunter, Mary E Ahearn, David Wiley, Gennaro D'urso, Lisa Baumbach-Reardon
Background: X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 ( UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and one synonymous, all lie within Exon15 of the UBA1 gene, which contains the active adenylation domain (AAD). Methods: In this study, our group characterized the three known missense variants in vitro. Using a novel Uba1 assay and other methods, we investigated Uba1 adenylation, thioester, and transthioesterification reactions in vitro to determine possible biochemical effects of the missense variants...
2017: F1000Research
https://www.readbyqxmd.com/read/29020340/relationship-between-viremia-and-specific-organ-damage-in-ebola-patients-a-cohort-study
#3
Simone Lanini, Gina Portella, Francesco Vairo, Gary P Kobinger, Antonio Pesenti, Martin Langer, Soccoh Kabia, Giorgio Brogiato, Jackson Amone, Concetta Castilletti, Rossella Miccio, Maria Rosaria Capobianchi, Gino Strada, Alimuddin Zumla, Antonino Di Caro, Giuseppe Ippolito
Background: Pathogenesis of Ebola virus disease remains poorly understood. We used concomitant determination of routine laboratory biomarkers and Ebola viremia to explore the potential role of viral replication in specific organ damage. Methods: We recruited patients with detectable Ebola viremia admitted to the EMERGENCY ONG ONLUS Ebola Treatment Center in Sierra Leone. Repeated measure of Ebola viremia, ALT, AST, bilirubin, CPK, LDH, aPTT, INR, creatinine and BUN were recorded...
August 20, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28993872/a-novel-mutation-of-vapb-in-one-chinese-familial-amyotrophic-lateral-sclerosis-pedigree-and-its-clinical-characteristics
#4
Yi-Min Sun, Yi Dong, Jian Wang, Jia-Hong Lu, Yan Chen, Jian-Jun Wu
The mutation of vesicle-associated membrane protein-associated protein B (VAPB) was proved to cause family amyotrophic lateral sclerosis (FALS). Only two mutations of VAPB associated with ALS have been reported (p.Pro56Ser and p.Thr46Ile). Here we reported a Chinese Han FALS family caused by a novel VAPB point mutation. The clinical materials of one Chinese Han FALS family were collected. The genetic analysis was carried out by target sequencing and further verified by Sanger sequencing. One novel mutation of c...
October 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28993013/right-cerebral-hemisphere-specialization-for-quiet-and-perturbed-body-balance-control-evidence-from-unilateral-stroke
#5
Corina Aparecida Fernandes, Daniel Boari Coelho, Alessandra Rezende Martinelli, Luis Augusto Teixeira
Our aim in this investigation was to assess the relative importance of each cerebral hemisphere in quiet and perturbed balance, based on uni-hemispheric lesions by stroke. We tested the hypothesis of right cerebral hemisphere specialization for balance control. Groups of damage either to the right (RHD, n=9) or the left (LHD, n=7) cerebral hemisphere were compared across tasks requiring quiet balance or body balance recovery following a mechanical perturbation, comparing them to age-matched nondisabled individuals (controls, n=24)...
October 7, 2017: Human Movement Science
https://www.readbyqxmd.com/read/28981141/brain-and-heart-magnetic-resonance-imaging-spectroscopy-in-duchenne-muscular-dystrophy
#6
REVIEW
Sophie Mavrogeni, Roser Pons, Ioannis Nikas, George Papadopoulos, Dimitrios A Verganelakis, Genovefa Kolovou, George P Chrousos
Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive and irreversible loss of muscular function. As muscular disease progresses, the repair mechanisms cannot compensate for cellular damage, leading inevitably to necrosis and progressive replacement by fibrous and fatty tissue. Cardiomyopathy and respiratory failure are the main causes of death in DMD. In addition to the well-described muscle and heart disease, cognitive dysfunction affects around 30% of DMD boys. Myocardial fibrosis, assessed by late gadolinium enhancement (LGE), using cardiovascular magnetic resonance imaging (CMR), is an early marker of heart involvement in both DMD patients and female carriers...
October 5, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28972498/general-health-status-among-firefighters-and-rescue-operations-workers
#7
A Ibrayeva, B Turdalieva, G Aimbetova, L Pleva
Research objective - to study the state of health of staff of service of fire extinguishing and accident rescue services department for definition of the priority directions of rendering the treatment-and-prophylactic help and rehabilitation of employees. By means of an information and analytical method the retrospective analysis of reports about the registered diseases, their result and the reasons of temporary disability of staff of service of fire extinguishing and accident rescue services department of Department on emergency situations of Almaty in 2011-2016 has been carried out...
September 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28970581/levels-of-s100b-protein-drive-the-reparative-process-in-acute-muscle-injury-and-muscular-dystrophy
#8
Francesca Riuzzi, Sara Beccafico, Roberta Sagheddu, Sara Chiappalupi, Ileana Giambanco, Oxana Bereshchenko, Carlo Riccardi, Guglielmo Sorci, Rosario Donato
Regeneration of injured skeletal muscles relies on a tightly controlled chain of cellular and molecular events. We show that appropriate levels of S100B protein are required for timely muscle regeneration after acute injury. S100B released from damaged myofibers and infiltrating macrophages expands the myoblast population, attracts macrophages and promotes their polarization into M2 (pro-regenerative) phenotype, and modulates collagen deposition, by interacting with RAGE (receptor for advanced glycation end-products) or FGFR1 (fibroblast growth factor receptor 1) depending on the muscle repair phase and local conditions...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28966053/proteome-analysis-in-dystrophic-mdx-mouse-muscle-reveals-a-drastic-alteration-of-key-metabolic-and-contractile-proteins-after-chronic-exercise-and-the-potential-modulation-by-anti-oxidant-compounds
#9
Tania Gamberi, Tania Fiaschi, Elisa Valocchia, Alessandra Modesti, Paola Mantuano, Jean-Francois Rolland, Francesca Sanarica, Annamaria De Luca, Francesca Magherini
Weakness and fatigability are typical features of Duchenne muscular dystrophy patients and are aggravated in dystrophic mdx mice by chronic treadmill exercise. In the present study, we describe, the pattern of differentially abundant spots that is associated to the worsening of dystrophy phenotype induced by chronic exercise. Our proteomic analysis pointed out 34 protein spots with different abundance between sedentary and exercised mdx mice. These proteins belong mostly to glucose metabolism, energy production and sarcomere structure categories...
September 28, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28962115/application-of-urine-cells-in-drug-intervention-for-spinal-muscular-atrophy
#10
Qi-Jie Zhang, Xiang Lin, Jin-Jing Li, Ying-Qian Lu, Xin-Xin Guo, En-Lin Dong, Miao Zhao, Jin He, Ning Wang, Wan-Jin Chen
Spinal muscular atrophy (SMA) is a lethal childhood neurodegenerative disorder that is caused by the homozygous deletion of survival motor neuron 1 (SMN1). To date, no effective treatments are available. In the current study, urine cells taken from SMA patients were cultured and the application of patient-derived urine cells was determined in drug intervention. A total of 13 SMA patient-derived urine cell lines and 40 control cell lines were established. SMN was highly expressed in the nucleus and cytoplasm...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28959133/traumatic-gastric-perforation-associated-with-cardiopulmonary-resuscitation-a-case-report
#11
Yosuke Arai, Soichiro Honjo, Syota Shimizu, Masaki Morimoto, Masataka Amisaki, Tomohiro Osaki, Naruo Tokuyasu, Teruhisa Sakamoto, Yoshihiko Maeta, Keigo Ashida, Hiroaki Saito, Yoshiyuki Fujiwara
Sternal and rib fractures are well-known complications of cardiopulmonary resuscitation (CPR). We experienced a rare case of traumatic gastric perforation associated with CPR that required emergency laparotomy. In this case, we examined whether surgery is essential for gastric perforation associated with CPR. A 67-year-old man experienced cardiopulmonary arrest in the workplace, and bystander CPR was performed by his colleagues. He was then transported by ambulance to our hospital. A large amount of free air was found in the peritoneal cavity on computed tomography at presentation, and perforation of the gastrointestinal tract was suspected...
September 2017: Yonago Acta Medica
https://www.readbyqxmd.com/read/28952230/how-can-we-effectively-address-the-paraneoplastic-dermatomyositis-diagnosis-risk-factors-and-treatment-options
#12
Ioannis Zerdes, Maria Tolia, Michail Nikolaou, Nikolaos Tsoukalas, Louloudenia Velentza, Jiannis Hajiioannou, Michail Mitsis, George Kyrgias
PURPOSE: Dermatomyositis (DM) represents an auto-immune inflammatory myopathy. In this review, we analyzed the incidence of DM as a clinical manifestation highlighting the peculiar clinical and treatment characteristics of this disease when occurring in the context of different malignancies. METHODS: A systematic literature review was performed based on database search in PubMed/Medline and included English articles until December 2016. RESULTS: In up to 20% of cases DM appears as a paraneoplastic syndrome associated with multiple malignancies such as ovarian, breast, prostate, lung, nasopharyngeal and colorectal cancer, and non-Hodgkin lymphomas...
July 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28952155/sensorimotor-control-of-breathing-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#13
David P Burns, Arijit Roy, Eric F Lucking, Fiona B McDonald, Sam Gray, Richard J Wilson, Deirdre Edge, Ken D O'Halloran
Patients with Duchenne muscular dystrophy (DMD) hypoventilate with consequential arterial blood gas derangement relevant to disease progression. Whereas deficits in DMD diaphragm are recognized, there is a paucity of knowledge in respect of the neural control of breathing in dystrophinopathies. We sought to perform an analysis of respiratory control in a model of DMD, the mdx mouse. In eight week old male wild-type and mdx mice, ventilation and metabolism, carotid body afferent activity, and diaphragm muscle force-generating capacity, and muscle fibre size, distribution and centronucleation were determined...
September 26, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28940030/establishing-and-monitoring-of-urethral-sphincter-deficiency-in-a-large-animal-model
#14
Alexandra Kelp, Anika Albrecht, Bastian Amend, Mario Klünder, Philipp Rapp, Oliver Sawodny, Arnulf Stenzl, Wilhelm K Aicher
BACKGROUND: Different methods for induction and monitoring of urethral sphincter deficiency were explored in a large animal model. METHODS: Sphincter deficiency was established in female pigs by dilatation and cauterization, and amount and frequencies of voiding were monitored and explored by pad test. Sphincteric closure pressures were recorded prior to and immediately after treatment of each animal, and on day 21 by two techniques: standard urethral pressure profilometry (s-UPP) and high-definition urethral pressure profilometry (HD-UPP)...
September 22, 2017: World Journal of Urology
https://www.readbyqxmd.com/read/28939561/effects-of-a-titin-mutation-on-negative-work-during-stretch-shortening-cycles-in-skeletal-muscles
#15
Anthony L Hessel, Kiisa C Nishikawa
Negative work occurs in muscles during braking movements such as downhill walking or landing after a jump. When performing negative work during stretch-shortening cycles, viscoelastic structures within muscles store energy during stretch, return a fraction of this energy during shortening, and dissipate the remaining energy as heat. Because tendons and extracellular matrix are relatively elastic rather than viscoelastic, energy is mainly dissipated by cross bridges and titin. Recent studies demonstrate that titin stiffness increases in active skeletal muscles, suggesting that titin contributions to negative work may have been underestimated in previous studies...
September 22, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28935143/vitamin-e-treatment-decreases-muscle-injury-in-mdx-mice
#16
Rafael Dias Mâncio, Túlio de Almeida Hermes, Aline Barbosa Macedo, Daniela Sayuri Mizobuti, Amanda Harduim Valduga, Ian Feller Rupcic, Elaine Minatel
OBJECTIVE: Oxidative stress, in addition to the absence of the dystrophin protein, has been considered an important regulator of Duchenne muscular dystrophy (DMD). Vitamin E presents an important role as a potent antioxidant and in preserving the integrity of the cell membrane. In this study, we evaluated the effects of vitamin E therapy on some physiological pathways that can contribute to muscle injury in the diaphragm muscle of mdx mice (the experimental model of DMD) such as CK levels, inflammatory response, oxidative stress, and the enzymatic antioxidant system...
November 2017: Nutrition
https://www.readbyqxmd.com/read/28931313/muscle-expression-of-sod1g93a-triggers-the-dismantlement-of-neuromuscular-junction-via-pkc-theta
#17
Gabriella Dobrowolny, Martina Martini, Bianca Maria Scicchitano, Vanina Romanello, Simona Boncompagni, Carmine Nicoletti, Laura Pietrangelo, Simone De Panfilis, Angela Catizone, Marina Bouche, Marco Sandri, Rudiger Rudolf, Feliciano Protasi, Antonio Musaro
Aim Neuromuscular junction (NMJ) represents the morpho-functional interface between muscle and nerve. Several chronic pathologies such as aging and neurodegenerative diseases, including muscular dystrophy and Amyotrophic Lateral Sclerosis (ALS), display altered NMJ and functional denervation. However, the triggers and the molecular mechanisms underlying the dismantlement of NMJ remain unclear. Results Here we provide evidence that perturbation in redox signaling cascades, induced by muscle-specific accumulation of mutant SOD1G93A in transgenic MLC/SOD1G93A mice, is causally linked to morphological alterations of the neuromuscular presynaptic terminals, high turnover rate of Acetylcholine Receptor (AChR), and NMJ dismantlement...
September 20, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28928772/tissue-engineering-to-repair-diaphragmatic-defect-in-a-rat-model
#18
G P Liao, Y Choi, K Vojnits, H Xue, K Aroom, F Meng, H Y Pan, R A Hetz, C J Corkins, T G Hughes, F Triolo, A Johnson, Kenneth J Moise, K P Lally, C S Cox, Y Li
Tissue engineering is an emerging strategy for repairing damaged tissues or organs. The current study explored using decellularized rat diaphragm scaffolds combined with human amniotic fluid-derived multipotent stromal cells (hAFMSC) to provide a scaffold, stem cell construct that would allow structural barrier function during tissue ingrowth/regeneration. We created an innovative cell infusion system that allowed hAFMSC to embed into scaffolds and then implanted the composite tissues into rats with surgically created left-sided diaphragmatic defects...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28920547/decreased-postoperative-gluteus-medius-muscle-cross-sectional-area-measured-by-computed-tomography-scan-in-patients-with-intertrochanteric-fractures-nailing
#19
Mitsuaki Noda, Yasuhiro Saegusa, Masayasu Takahashi, Yuma Takada, Masahiro Fujita, Issei Shinohara
BACKGROUND: In patients with femoral intertrochanteric fractures treated by cephalomedullary (CM) nailing, abduction force reportedly decreased by 25-30% during the postoperative follow-up period. The purpose of the current study is to evaluate the cross-sectional area (CSA) and adipose tissue ratio (ATR) of the gluteus medius muscle on the postoperative computed tomography (CT) view, expecting this graphic study will support clinical results. MATERIALS AND METHODS: A total of 27 patients with femoral intertrochanteric fractures treated by CM femoral nail implants completed the study...
September 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28899419/increased-plasma-lipid-levels-exacerbate-muscle-pathology-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#20
Nadia Milad, Zoe White, Arash Y Tehrani, Stephanie Sellers, Fabio M V Rossi, Pascal Bernatchez
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin expression and leads to severe ambulatory and cardiac function decline. However, the dystrophin-deficient mdx murine model of DMD only develops a very mild form of the disease. Our group and others have shown vascular abnormalities in animal models of MD, a likely consequence of the fact that blood vessels express the same dystrophin-associated glycoprotein complex (DGC) proteins as skeletal muscles. METHODS: To test the blood vessel contribution to muscle damage in DMD, mdx (4cv) mice were given elevated lipid levels via apolipoprotein E (ApoE) gene knockout combined with normal chow or lipid-rich Western diets...
September 12, 2017: Skeletal Muscle
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