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https://www.readbyqxmd.com/read/28642865/spinal-muscular-atrophy-from-defective-chaperoning-of-snrnp-assembly-to-neuromuscular-dysfunction
#1
REVIEW
Maia Lanfranco, Neville Vassallo, Ruben J Cauchi
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein. SMN is part of a multiprotein complex that also includes Gemins 2-8 and Unrip. The SMN-Gemins complex cooperates with the protein arginine methyltransferase 5 (PRMT5) complex, whose constituents include WD45, PRMT5 and pICln. Both complexes function as molecular chaperones, interacting with and assisting in the assembly of an Sm protein core onto small nuclear RNAs (snRNAs) to generate small nuclear ribonucleoproteins (snRNPs), which are the operating components of the spliceosome...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28637880/a-study-comparing-vein-integrity-and-clinical-outcomes-vico-in-open-vein-harvesting-and-two-types-of-endoscopic-vein-harvesting-for-coronary-artery-bypass-grafting-the-vico-randomised-clinical-trial
#2
Bhuvaneswari Krishnamoorthy, William R Critchley, Alexander J Thompson, Katherine Payne, Julie Morris, Rajamiyer V Venkateswaran, Ann L Caress, James E Fildes, Nizar Yonan
Background -Current consensus statements maintain that endoscopic vein harvesting (EVH) should be standard care in coronary artery bypass surgery (CABG) but vein quality and clinical outcomes have been questioned. The Vein Integrity and Clinical Outcome (VICO) trial was designed to assess the impact of different vein harvesting methods on vessel damage and if this contributes to clinical outcomes following CABG. Methods -A single centre, randomised clinical trial of patients undergoing CABG with an internal mammary artery, and with one to four vein grafts were recruited...
June 21, 2017: Circulation
https://www.readbyqxmd.com/read/28637492/expression-patterns-of-fshd-causing-dux4-and-myogenic-transcription-factors-pax3-and-pax7-are-spatially-distinct-in-differentiating-human-stem-cell-cultures
#3
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G Miller
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA binding domains similar to several paired class homeotic transcription factors, but only myogenic factors PAX3 and PAX7 rescue cell viability when co-expressed with DUX4 in mouse myoblasts. This observation suggests competition for DNA binding sites in satellite cells might limit muscle repair and may be one aspect of DUX4-associated myotoxicity...
June 21, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28633548/polyquaternium-mediated-delivery-of-morpholino-oligonucleotides-for-exon-skipping-in-vitro-and-in-mdx-mice
#4
Mingxing Wang, Bo Wu, Sapana N Shah, Peijuan Lu, Qilong Lu
Antisense oligonucleotide therapy for Duchenne muscular dystrophy has shown great potential in preclinical and clinical trials, but its therapeutic applications are still limited due to inefficient delivery. In this study, we investigated a few polyquaterniums (PQs) with different size and composition for their potential to improve delivery performance of an antisense phosphorodiamidate morpholino oligomer (PMO) both in vitro and in vivo. The results showed that Luviquat(TM) series, especially PQ-1 and PQ-3, promoted the exon-skipping efficiency comparable to Endoporter-mediated PMO delivery in vitro...
November 2017: Drug Delivery
https://www.readbyqxmd.com/read/28627668/potential-genetic-damage-to-nematode-offspring-following-exposure-to-triclosan-during-pregnancy
#5
Aixia Zhang, Xiaohong Gu, Xiuping Wang, Lei Wang, Lihua Zeng, Xuemei Fan, Chen Jiang, Ziyi Fu, Xianwei Cui, Chenbo Ji, Hongming Qu, Xirong Guo
Triclosan (TCS) is widely used as broad-spectrum antibacterial agent. However, it may threaten the health of human offspring if the mother is exposed to TCS during pregnancy. The present study aimed to identify potential mechanisms behind the toxic effect of TCS on the offspring of Caenorhabditis elegans (C. elegans), using this nematode as a suitable animal model. The results of the current study demonstrated that the locomotory behavior and reproductive capacity of C. elegans offspring was severely affected by prenatal exposure to different concentrations of TCS...
June 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28625916/er-stress-disturbs-sr-er-mitochondria-ca-2-transfer-implications-in-duchenne-muscular-dystrophy
#6
Marion Pauly, Claire Angebault-Prouteau, Haikel Dridi, Cécile Notarnicola, Valérie Scheuermann, Alain Lacampagne, Stefan Matecki, Jérémy Fauconnier
Besides its role in calcium (Ca(2+)) homeostasis, the sarco-endoplamic reticulum (SR/ER) controls protein folding and is tethered to mitochondria.Under pathophysiological conditions the unfolded protein response (UPR) is associated with disturbance in SR/ER-mitochondria crosstalk. Here, we investigated whether ER stress altered SR/ER-mitochondria links, Ca(2+) handling and muscle damage in WT (Wild Type) and mdx mice, the murine model of Duchenne Muscular Dystrophy (DMD). In WT mice, the SR/ER-mitochondria links were decreased in isolated FDB muscle fibers after injection of ER stress activator tunicamycin (TM)...
June 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28623559/ifn-%C3%AE-induced-reactive-oxygen-species-and-mitochondrial-damage-contribute-to-muscle-impairment-and-inflammation-maintenance-in-dermatomyositis
#7
Alain Meyer, Gilles Laverny, Yves Allenbach, Elise Grelet, Vanessa Ueberschlag, Andoni Echaniz-Laguna, Béatrice Lannes, Ghada Alsaleh, Anne Laure Charles, François Singh, Joffrey Zoll, Evelyne Lonsdorfer, François Maurier, Olivier Boyer, Jacques-Eric Gottenberg, Anne Sophie Nicot, Jocelyn Laporte, Olivier Benveniste, Daniel Metzger, Jean Sibilia, Bernard Geny
Dermatomyositis (DM) is an autoimmune disease associated with enhanced type I interferon (IFN) signalling in skeletal muscle, but the mechanisms underlying muscle dysfunction and inflammation perpetuation remain unknown. Transcriptomic analysis of early untreated DM muscles revealed that the main cluster of down-regulated genes was mitochondria-related. Histochemical, electron microscopy, and in situ oxygraphy analysis showed mitochondrial abnormalities, including increased reactive oxygen species (ROS) production and decreased respiration, which was correlated with low exercise capacities and a type I IFN signature...
June 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28623422/effects-of-omega-3-on-matrix-metalloproteinase-9-myoblast-transplantation-and-satellite-cell-activation-in-dystrophin-deficient-muscle-fibers
#8
Samara Camaçari de Carvalho, Sajedah M Hindi, Ashok Kumar, Maria Julia Marques
In Duchenne muscular dystrophy (DMD), lack of dystrophin leads to progressive muscle degeneration, with DMD patients suffering from cardiorespiratory failure. Cell therapy is an alternative to life-long corticoid therapy. Satellite cells, the stem cells of skeletal muscles, do not completely compensate for the muscle damage in dystrophic muscles. Elevated levels of proinflammatory and profibrotic factors, such as metalloproteinase 9 (MMP-9), impair muscle regeneration, leading to extensive fibrosis and poor results with myoblast transplantation therapies...
June 17, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28614273/fat-grafting-for-esthetic-correction-of-the-muscle-atrophy-secondary-to-ulnar-nerve-lesion
#9
Samuel Ribak, André L Vasconcelos, Ricardo K Oliveira
Patients with hand muscular atrophy due to damage of the ulnar nerve could be stigmatized for their appearance. Unsatisfactory results in the attempt to correct the atrophy are reported in the literature. Fat grafting is an autologous and easily obtainable graft, antigenic response is very unlikely, it does not require any special material, and the procedure has a low cost. The technique of autologous fat grafting by using fat block, to remodel the first interdigital space, is useful and safe in correcting muscle atrophy of the first interdigital space caused by the injury of the ulnar nerve...
June 13, 2017: Techniques in Hand & Upper Extremity Surgery
https://www.readbyqxmd.com/read/28606713/rhabdomyolysis-and-coeliac-disease-a-causal-or-casual-association-a-case-report-and-review-of-literature
#10
Claudia Mandato, Alessandro Rossi, Mariano Caldore, Marta Lamba, Michele Rocco, Renata Auricchio, Pietro Vajro, Paolo Siani
BACKGROUND: Rhabdomyolysis is a rare, potentially life-threatening condition, caused by multiple disorders. The association with Coeliac Disease (CD) has been rarely reported and in these cases muscular damage was imputed to hypokalemia. Herein we describe a new case of severe rhabdomyolysis in a child subsequently diagnosed as affected by CD, and review previous reports. CASE PRESENTATION: A 3-year-old boy was referred for diarrhea, brown urine, muscular pain/weakness, and no history of muscular trauma...
June 9, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28596973/quadriceps-strength-in-patients-with-isolated-cartilage-defects-of-the-knee-results-of-isokinetic-strength-measurements-and-their-correlation-with-clinical-and-functional-results
#11
Anja Hirschmüller, Tasja Andres, Wolfgang Schoch, Heiner Baur, Lukas Konstantinidis, Norbert P Südkamp, Philipp Niemeyer
BACKGROUND: Recent studies have found a significant deficit of maximum quadriceps strength after autologous chondrocyte implantation (ACI) of the knee. However, it is unclear whether muscular strength deficits in patients with cartilage damage exist prior to operative treatment. PURPOSE: To isokinetically test maximum quadriceps muscle strength and quantify the impact of possible strength deficits on functional and clinical test results. STUDY DESIGN: Cross-sectional study; Level of evidence, 3...
May 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28596337/cardiac-regeneration-strategies-staying-young-at-heart
#12
REVIEW
Eldad Tzahor, Kenneth D Poss
The human heart is continually operating as a muscular pump, contracting, on average, 80 times per minute to propel 8000 liters of blood through body tissues each day. Whereas damaged skeletal muscle has a profound capacity to regenerate, heart muscle, at least in mammals, has poor regenerative potential. This deficiency is attributable to the lack of resident cardiac stem cells, combined with roadblocks that limit adult cardiomyocytes from entering the cell cycle and completing division. Insights for regeneration have recently emerged from studies of animals with an elevated innate capacity for regeneration, the innovation of stem cell and reprogramming technologies, and a clearer understanding of the cardiomyocyte genetic program and key extrinsic signals...
June 9, 2017: Science
https://www.readbyqxmd.com/read/28575395/novel-mouse-models-of-oculopharyngeal-muscular-dystrophy-opmd-reveal-early-onset-mitochondrial-defects-and-suggest-loss-of-pabpn1-may-contribute-to-pathology
#13
Katherine E Vest, Brittany L Phillips, Ayan Banerjee, Luciano H Apponi, Eric B Dammer, Weiting Xu, Dinghai Zheng, Julia Yu, Bin Tian, Grace K Pavlath, Anita H Corbett
Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease caused by polyalanine expansion in the poly(A) binding protein nuclear 1 (PABPN1). Several mouse models have been generated to study OPMD; however, most of these models have employed transgenic overexpression of alanine-expanded PABPN1. These models do not recapitulate the OPMD patient genotype and PABPN1 overexpression could confound molecular phenotypes. We have developed a knock-in mouse model of OPMD (Pabpn1+/A17) that contains one alanine-expanded Pabpn1 allele under the control of the native promoter and one wild-type Pabpn1 allele...
May 29, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28573173/ex-vivo-experimental-study-on-the-thulium-laser-system-new-horizons-for-interventional-endoscopy-with-videos
#14
Gian Eugenio Tontini, Helmut Neumann, Alessandro Rimondi, Sara Vavassori, Barbara Bruni, Gregorio Cattignoli, Ping-Hong Zhou, Luca Pastorelli, Maurizio Vecchi
BACKGROUND AND STUDY AIMS:  The Thulium laser system (TLS) is an emerging interventional tool adopted in many surgical specialties. Its 2.0-μm wavelength allows precise coagulation (0.2 - 0.4 mm in depth) and cutting, limiting the possibilities of collateral injuries. We tested the impact of the TLS for gastric endoscopic submucosal dissection (ESD) and per oral endoscopic myotomy (POEM) ex vivo in pigs. MATERIALS AND METHODS:   Ex vivo porcine stomach and esophagus models underwent 2 POEMs, and 3 ESDs (mean diameter 3...
June 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28554556/dramatic-elevation-in-urinary-amino-terminal-titin-fragment-excretion-quantified-by-immunoassay-in-duchenne-muscular-dystrophy-patients-and-in-dystrophin-deficient-rodents
#15
Alan S Robertson, Mark J Majchrzak, Courtney M Smith, Robert C Gagnon, Nino Devidze, Glen B Banks, Sean C Little, Fizal Nabbie, Denise I Bounous, Janet DiPiero, Leslie K Jacobsen, Linda J Bristow, Michael K Ahlijanian, Stephen A Stimpson
Enzyme-linked and electrochemiluminescence immunoassays were developed for quantification of amino (N-) terminal fragments of the skeletal muscle protein titin (N-ter titin) and qualified for use in detection of urinary N-ter titin excretion. Urine from normal subjects contained a small but measurable level of N-ter titin (1.0 ± 0.4 ng/ml). A 365-fold increase (365.4 ± 65.0, P = 0.0001) in urinary N-ter titin excretion was seen in Duchene muscular dystrophy (DMD) patients. Urinary N-ter titin was also evaluated in dystrophin deficient rodent models...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28548078/associated-variables-of-myositis-in-systemic-lupus-erythematosus-a-cross-sectional-study
#16
Yan Liang, Rui-Xue Leng, Hai-Feng Pan, Dong-Qing Ye
BACKGROUND This study aimed to estimate the point prevalence of myositis and identify associated variables of myositis in systemic lupus erythematosus (SLE). MATERIAL AND METHODS Clinical date of patients hospitalized with lupus at the First Affiliated Hospital of Anhui Medical University and Anhui Provincial Hospital were collected. Patients were defined as having myositis if they reported the presence of persistent invalidating muscular weakness combined with increased levels of creatine phosphokinase (CPK) and abnormal electromyography (EMG)...
May 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28539233/supplementation-action-with-ascorbic-acid-in-the-morphology-of-the-muscular-layer-and-reactive-acetylcholinesterase-neurons-of-ileum-of-mdx-mice
#17
Marcelo José Santiago Lisboa, Marília Fabiana De Oliveira Lima, Sandra Regina Stabille, Jacqueline Nelisis Zanoni, Karina Martinez Gagliardo, Melyna Soares Souto, Renivaldo Souza, Jodonai Barbosa Da Silva, Sônia Regina De Almeida Yokomizo, Edson Aparecido Liberti, Naianne Kelly Clebis
The Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by the absence of dystrophin protein, causing severe myopathy from increases of oxidative stress. Injuries of intestinal muscle can compromise the myenteric plexus. This study aimed to evaluate the disorders occurred in the muscular layer and in the acetylcholinesterase myenteric neurons (ACHE-r) of ileum of mdx mice, and the effects of supplementation with ascorbic acid (AA) in both components. 30 male mice C57BL/10, and 30 male mice C57BL/10Mdx were separated according to the age and treatment (n=10/group): 30-days-old control group (C30); 30-days-old dystrophic group (D30); 60-days-old control group (C60); 60-days-old dystrophic group (D60); 60-days-old control group supplemented with AA (CS60); and 60-days-old dystrophic group supplemented with AA (DS60)...
May 17, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28538101/chemical-endgroup-modified-diblock-copolymers-elucidate-anchor-and-chain-mechanism-of-membrane-stabilization
#18
Evelyne M Houang, Karen J Haman, Mihee Kim, Wenjia Zhang, Dawn A Lowe, Yuk Yin Sham, Timothy P Lodge, Benjamin J Hackel, Frank S Bates, Joseph M Metzger
Block copolymers can be synthesized in an array of architectures and compositions to yield diverse chemical properties. The triblock copolymer Poloxamer 188 (P188), the family archetype, consisting of a hydrophobic polypropylene oxide core flanked by hydrophilic polyethylene oxide chains, can stabilize cellular membranes during stress. However, little is known regarding the molecular basis of membrane interaction by copolymers in living organisms. By leveraging diblock architectural design, discrete end-group chemistry modifications can be tested...
May 24, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28533606/the-relationship-between-knee-joint-angle-and-knee-flexor-and-extensor-muscle-strength
#19
Misook Ha, Dongwook Han
[Purpose] The aim of this study was to determine a relationship between joint angle and muscular strength. In particular, this research investigated the differences in maximum muscular strength and average muscular strength at the knee-joint posture. [Subjects and Methods] The study subjects comprised eight female students in their 20s attending S University in Busan. None of the subjects had functional disabilities or had experienced damage to the lower extremities in terms of measurement of muscular strength...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28527229/effects-of-interactive-metronome-training-on-upper-extremity-function-adl-and-qol-in-stroke-patients
#20
Ga-Hui Yu, Jae-Shin Lee, Su-Kyoung Kim, Tae-Hyun Cha
BACKGROUND: Rhythm and timing training is stimulation that substitutes for a damaged function controls muscular movement or temporal element, which has positive impacts on the neurological aspect and movement of the brain. OBJECTIVE: This study is to assess the changes caused by rhythm and timing training using an interactive metronome (IM) on upper extremity function, ADL and QOL in stroke patients. METHODS: In order to assess the effects of IM training, a group experiment was conducted on 30 stroke patients...
May 19, 2017: NeuroRehabilitation
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