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https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#1
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28078418/absolute-quantification-of-myosin-heavy-chain-isoforms-by-selected-reaction-monitoring-can-underscore-skeletal-muscle-changes-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#2
Caterina Peggion, Maria Lina Massimino, Giancarlo Biancotto, Roberto Angeletti, Carlo Reggiani, Maria Catia Sorgato, Alessandro Bertoli, Roberto Stella
Skeletal muscle fibers contain different isoforms of myosin heavy chain (MyHC) that define distinctive contractile properties. In light of the muscle capacity to adapt MyHC expression to pathophysiological conditions, a rapid and quantitative assessment of MyHC isoforms in small muscle tissue quantities would represent a valuable diagnostic tool for (neuro)muscular diseases. As past protocols did not meet these requirements, in the present study we applied a targeted proteomic approach based on selected reaction monitoring that allowed the absolute quantification of slow and fast MyHC isoforms in different mouse skeletal muscles with high reproducibility...
January 11, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#3
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28056338/hanac-col4a1-mutation-in-mice-leads-to-skeletal-muscle-alterations-due-to-a-primary-vascular-defect
#4
Simon Guiraud, Tiffany Migeon, Arnaud Ferry, Zhiyong Chen, Souhila Ouchelouche, Marie-Christine Verpont, Yoshikazu Sado, Valérie Allamand, Pierre Ronco, Emmanuelle Plaisier
Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). To analyze the pathophysiology of HANAC, Col4a1 mutant mice bearing the p.Gly498Val mutation were generated...
January 2, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28017945/-pathological-state-or-cause-of-sarcopenia
#5
Yasumoto Matsui
Skeletal muscle atrophy by aging(Sarcopenia)is more likely to occur in lower limbs rather than upper ones, and in the thigh rather than in the lower leg, and in the anterior side of thigh rather than posterior, faster in men than in women. It differs from disuse muscle atrophy in that it occurs slowly and gradually, hard to be recovered, or fast twitch fibers are mainly involved. Many factors or phenomena are known to contribute to proceed sarcopenia. In the aged skeletal muscle tissue, the number of satellite cells or motor neurons decrease and the function of the neuro-muscular junction declines...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28009281/peroxiredoxin-1-protects-telomeres-from-oxidative-damage-and-preserves-telomeric-dna-for-extension-by-telomerase
#6
Eric Aeby, Wareed Ahmed, Sophie Redon, Viesturs Simanis, Joachim Lingner
Oxidative damage of telomeres can promote cancer, cardiac failure, and muscular dystrophy. Specific mechanisms protecting telomeres from oxidative damage have not been described. We analyzed telomeric chromatin composition during the cell cycle and show that the antioxidant enzyme peroxiredoxin 1 (PRDX1) is enriched at telomeres during S phase. Deletion of the PRDX1 gene leads to damage of telomeric DNA upon oxidative stress, revealing a protective function of PRDX1 against oxidative damage at telomeres. We also show that the oxidized nucleotide 8-oxo-2'deoxyguanosine-5'-triphosphate (8oxodGTP) causes premature chain termination when incorporated by telomerase and that some DNA substrates terminating in 8oxoG prevent extension by telomerase...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28005993/decreased-peak-expiratory-flow-associated-with-muscle-fiber-type-switching-in-spinal-and-bulbar-muscular-atrophy
#7
Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Keisuke Suzuki, Naohide Kondo, Kaori Kawai, Seiya Noda, Hirotaka Nakanishi, Haruhiko Banno, Akihiro Hirakawa, Haruki Koike, Katherine Halievski, Cynthia L Jordan, Masahisa Katsuno, Gen Sobue
The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls...
2016: PloS One
https://www.readbyqxmd.com/read/27992245/isokinetic-evaluation-of-the-hip-flexor-and-extensor-muscles-a-systematic-review
#8
Fabricio Yuri Zapparoli, Marcelo Riberto
INTRODUCTION: Isokinetic dynamometry testing is a safe and reliable method accepted as the "gold standard" in the evaluation of muscle strength in the open kinetic chain. Isokinetic hip examinations face problems in the standardization of the position of the equipment axis; in the individual being examined; in the adjustment of the lever arm and in stabilization strategies for the patients during the tests. Identification of the methodologic procedures with best reproducibility is also needed...
December 19, 2016: Journal of Sport Rehabilitation
https://www.readbyqxmd.com/read/27990231/fast-simulation-and-optimization-tool-to-explore-selective-neural-stimulation
#9
Mélissa Dali, Olivier Rossel, David Guiraud
In functional electrical stimulation, selective stimulation of axons is desirable to activate a specific target, in particular muscular function. This implies to simulate a fascicule without activating neighboring ones i.e. to be spatially selective. Spatial selectivity is achieved by the use of multicontact cuff electrodes over which the stimulation current is distributed. Because of the large number of parameters involved, numerical simulations provide a way to find and optimize electrode configuration. The present work offers a computation effective scheme and associated tool chain capable of simulating electrode-nerve interface and find the best spread of current to achieve spatial selectivity...
June 13, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/27960149/the-crucial-role-of-c18-cer-in-fat-induced-skeletal-muscle-insulin-resistance
#10
Agnieszka U Blachnio-Zabielska, Marta Chacinska, Mikkel H Vendelbo, Piotr Zabielski
BACKGROUND/AIMS: Muscle bioactive lipids accumulation leads to several disorder states. The most common are insulin resistance (IR) and type 2 diabetes. There is an ongoing debate which of the lipid species plays the major role in induction of muscle IR. Our aim was to elucidate the role of particular lipid group in induction of muscle IR. METHODS: The analyses were performed on muscle from the following groups of rats: 1. Control, fed standard diet, 2 HFD, fed high fat diet, 3...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#11
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27927223/mitochondrial-co-chaperone-protein-tid1-is-required-for-energy-homeostasis-during-skeletal-myogenesis
#12
Li-Hao Cheng, Kai-Feng Hung, Te-Chang Lee, Chih-Yang Huang, Wen-Ting Chiu, Jeng-Fan Lo, Tung-Fu Huang
BACKGROUND: Tid1 is a mitochondrial co-chaperone protein and its transcript is abundantly expressed in skeletal muscle tissues. However, the physiological function of Tid1 during skeletal myogenesis remains unclear. METHODS: In vitro induced differentiation assay of mouse myoblast C2C12 cells was applied to examine the physiological role of Tid1 during skeletal myogenesis. In addition, transgenic mice with muscle specific (HSA-Cre) Tid1 deletion were established and examined to determine the physiological function of Tid1 during skeletal muscle development in vivo...
December 7, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27895494/ercc1-and-xrcc1-but-not-xpa-single-nucleotide-polymorphisms-correlate-with-response-to-chemotherapy-in-endometrial-carcinoma
#13
Liang Chen, Mei-Mei Liu, Hui Liu, Dan Lu, Xiao-Dan Zhao, Xue-Jing Yang
Our study aimed to investigate the correlation between single nucleotide polymorphisms of ERCC1/XRCC1/XPA genes and postoperative chemotherapy efficacy and prognosis of endometrial carcinoma. Our study included 108 patients with endometrial carcinoma and 100 healthy participants. ERCC1 rs11615/XRCC1 rs25487/XPA rs1800975 gene polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Then the chemotherapy efficacy and toxic effects of the patients were assessed. The genotype and allele frequency of ERCC1 rs11615/XRCC1 rs25487 in the case group were significantly different from that in the control group (all P<0...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27871005/nickel-affects-gill-and-muscle-development-in-oriental-fire-bellied-toad-bombina-orientalis-embryos
#14
Chan Jin Park, Sang Ha Song, Dae Han Kim, Myung Chan Gye
The developmental toxicity of nickel was examined in the embryos of Bombina orientalis, a common amphibian in Korea. Based on a standard frog embryo teratogenesis assay, the LC50 and EC50 for malformation of nickel after 168h of treatment were 33.8μM and 5.4μM, respectively. At a lethal concentration (100μM), nickel treatment decreased the space between gill filaments and caused epithelial swelling and abnormal fusion of gill filaments. These findings suggest that nickel affects the functional development of gills, leading to embryonic death...
January 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/27852738/contributions-of-rapid-neuromuscular-transmission-to-the-fine-control-of-acoustic-parameters-of-birdsong
#15
Caitlin Mencio, Balagurunathan Kuberan, Franz Goller
Neural control of complex vocal behaviors, such as birdsong and speech, requires integration of biomechanical nonlinearities through muscular output. Although control of airflow and tension of vibrating tissues are known functions of vocal muscles, it remains unclear how specific muscle characteristics contribute to specific acoustic parameters. To address this gap, we removed heparan sulfate chains using heparitinases to subtly perturb neuromuscular transmission in the syrinx of adult male zebra finches (Taeniopygia guttata)...
November 16, 2016: Journal of Neurophysiology
https://www.readbyqxmd.com/read/27847330/altered-mitochondrial-quality-control-signaling-in-muscle-of-old-gastric-cancer-patients-with-cachexia
#16
Emanuele Marzetti, Maria Lorenzi, Francesco Landi, Anna Picca, Fausto Rosa, Fabiana Tanganelli, Marco Galli, Giovanni Battista Doglietto, Fabio Pacelli, Matteo Cesari, Roberto Bernabei, Riccardo Calvani, Maurizio Bossola
Mitochondrial dysfunction is involved in the loss of muscle featuring both aging and cancer cachexia (CC). Whether mitochondrial quality control (MQC) is altered in skeletal myocytes of old patients with CC is unclear. The present investigation therefore sought to preliminarily characterize MQC pathways in muscle of old gastric cancer patients with cachexia. The study followed a case-control cross-sectional design. Intraoperative biopsies of the rectus abdominis muscle were obtained from 18 patients with gastric adenocarcinoma (nine with CC and nine non-cachectic) and nine controls, and assayed for the expression of a set of MQC mediators...
January 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/27825107/in-vivo-myomaker-mediated-heterologous-fusion-and-nuclear-reprogramming
#17
Yasuyuki Mitani, Ronald J Vagnozzi, Douglas P Millay
Knowledge regarding cellular fusion and nuclear reprogramming may aid in cell therapy strategies for skeletal muscle diseases. An issue with cell therapy approaches to restore dystrophin expression in muscular dystrophy is obtaining a sufficient quantity of cells that normally fuse with muscle. Here we conferred fusogenic activity without transdifferentiation to multiple non-muscle cell types and tested dystrophin restoration in mouse models of muscular dystrophy. We previously demonstrated that myomaker, a skeletal muscle-specific transmembrane protein necessary for myoblast fusion, is sufficient to fuse 10T 1/2 fibroblasts to myoblasts in vitro...
January 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27807411/the-organization-and-control-of-intra-limb-anticipatory-postural-adjustments-and-their-role-in-movement-performance
#18
REVIEW
Paolo Cavallari, Francesco Bolzoni, Carlo Bruttini, Roberto Esposti
Anticipatory Postural Adjustments (APAs) are commonly described as unconscious muscular activities aimed to counterbalance the perturbation caused by the primary movement, so as to ensure the whole-body balance, as well as contributing to initiate the displacement of the body center of mass when starting gait or whole-body reaching movements. These activities usually create one or more fixation chains which spread over several muscles of different limbs, and may be thus called inter-limb APAs. However, it has been reported that APAs also precede voluntary movements involving tiny masses, like a flexion/extension of the wrist or even a brisk flexion of the index-finger...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27798451/comparative-analysis-of-resuscitation-using-human-serum-albumin-and-crystalloids-or-130-0-4-hydroxyethyl-starch-and-crystalloids-on-skeletal-muscle-metabolic-profile-during-experimental-haemorrhagic-shock-in-swine-a-randomised-experimental-study
#19
Eric Noll, Michele Diana, Anne L Charles, François Singh, Tong J Gan, Julien Pottecher, François-Marie Moussallieh, Izzie J Namer, Bernard Geny, Pierre Diemunsch
BACKGROUND: Protection against acute skeletal muscle metabolic dysfunction and oxidative stress could be a therapeutic target in volume expansion for severely bleeding patients. OBJECTIVES: This experimental pilot study in swine aims at comparing 130/0.4 hydroxyethyl starch (HES) with 4% albumin along with crystalloid perfusion for first-line volume expansion in haemorrhagic shock with a particular emphasis on oxidative stress and muscular mitochondrial function...
February 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/27754374/endogenous-multiple-exon-skipping-and-back-splicing-at-the-dmd-mutation-hotspot
#20
Hitoshi Suzuki, Yoshitsugu Aoki, Toshiki Kameyama, Takashi Saito, Satoru Masuda, Jun Tanihata, Tetsuya Nagata, Akila Mayeda, Shin'ichi Takeda, Toshifumi Tsukahara
Duchenne muscular dystrophy (DMD) is a severe muscular disorder. It was reported that multiple exon skipping (MES), targeting exon 45-55 of the DMD gene, might improve patients' symptoms because patients who have a genomic deletion of all these exons showed very mild symptoms. Thus, exon 45-55 skipping treatments for DMD have been proposed as a potential clinical cure. Herein, we detected the expression of endogenous exons 44-56 connected mRNA transcript of the DMD using total RNAs derived from human normal skeletal muscle by reverse transcription polymerase chain reaction (RT-PCR), and identified a total of eight types of MES products around the hotspot...
October 13, 2016: International Journal of Molecular Sciences
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