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https://www.readbyqxmd.com/read/29679921/electromyographic-and-biomechanical-analysis-of-step-negotiation-in-charcot-marie-tooth-subjects-whose-level-walk-is-not-impaired
#1
Tiziana Lencioni, Giuseppe Piscosquito, Marco Rabuffetti, Enrica Di Sipio, Manuela Diverio, Isabella Moroni, Luca Padua, Emanuela Pagliano, Angelo Schenone, Davide Pareyson, Maurizio Ferrarin
BACKGROUND: Charcot-Marie-Tooth (CMT) is a slowly progressive disease characterized by muscular weakness and wasting with a length-dependent pattern. Mildly affected CMT subjects showed slight alteration of walking compared to healthy subjects (HS). RESEARCH QUESTION: To investigate the biomechanics of step negotiation, a task that requires greater muscle strength and balance control compared to level walking, in CMT subjects without primary locomotor deficits (foot drop and push off deficit) during walking...
April 13, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29679560/developmental-origin-and-morphogenesis-of-the-diaphragm-an-essential-mammalian-muscle
#2
Elizabeth M Sefton, Mirialys Gallardo, Gabrielle Kardon
The diaphragm is a mammalian skeletal muscle essential for respiration and for separating the thoracic and abdominal cavities. Development of the diaphragm requires the coordinated development of muscle, muscle connective tissue, tendon, nerves, and vasculature that derive from different embryonic sources. However, defects in diaphragm development are common and the cause of an often deadly birth defect, Congenital Diaphragmatic Hernia (CDH). Here we comprehensively describe the normal developmental origin and complex spatial-temporal relationship between the different developing tissues to form a functional diaphragm using a developmental series of mouse embryos genetically and immunofluorescently labeled and analyzed in whole mount...
April 18, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29679381/comparative-gel-based-proteomic-analysis-of-chemically-crosslinked-complexes-in-dystrophic-skeletal-muscle
#3
Sandra Murphy, Margit Zweyer, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
Duchenne muscular dystrophy is a highly progressive muscle wasting disease with a complex pathophysiology that is based on primary abnormalities in the dystrophin gene. In order to study potential changes in the oligomerisation of high-molecular-mass protein complexes in dystrophic skeletal muscle, chemical crosslinking was combined with mass spectrometric analysis. The biochemical stabilization of protein interactions was carried out with the homo-bifunctional and amine-reactive agent bis[sulfosuccinimidyl]suberate, followed by protein shift analysis in one-dimensional gels...
April 20, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29679247/neuromuscular-and-electromechanical-properties-of-ultra-power-athletes-the-traceurs
#4
Sidney Grosprêtre, Philippe Gimenez, Alain Martin
PURPOSE: Practising a power-type activity over years can shape the neuromuscular profile of athletes. This study aimed at comparing the neuromuscular profile of a non-trained group (NT, n = 10) to power athletes practising Parkour (= traceurs, group PK, n = 11), an activity consisting of jumping obstacles mostly in an urban landscape. METHODS: Maximal isometric plantar flexion force (MVC) and rate of torque development (RTD) were evaluated, and neuromuscular function of triceps surae muscles was assessed and compared between groups through the analysis of evoked potentials from posterior tibial nerve stimulation...
April 20, 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29678764/relation-of-nnos-isoforms-to-mitochondrial-density-and-pgc-1alpha-expression-in-striated-muscles-of-mice
#5
Oliver Baum, Dea Aaldijk, Anna Lena Engeli, Matthias Spree, Serge Summermatter, Christoph Handschin, Andreas Zakrzewicz
The expression of neuronal NO synthase (nNOS) alpha- and beta-isoforms in skeletal muscle is well documented but only little information is available about their regulation/functions. Using different mouse models, we now assessed whether the expression of nNOS-isoforms in muscle fibers is related to mitochondria content/activity and regulated by peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha). Catalytic histochemistry revealed highest nNOS-concentrations to be present in type-2 oxidative muscle fibers...
April 17, 2018: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/29678369/impaired-corticomuscular-and-interhemispheric-cortical-beta-oscillation-coupling-in-amyotrophic-lateral-sclerosis
#6
Malcolm Proudfoot, Freek van Ede, Andrew Quinn, Giles L Colclough, Joanne Wuu, Kevin Talbot, Michael Benatar, Mark W Woolrich, Anna C Nobre, Martin R Turner
OBJECTIVES: The neural activity of the primary motor cortex is variably synchronised with contralateral peripheral electromyographic signals, which is thought to facilitate long-range communication through the motor system. Such corticomuscular coherence (CMC) is typically observed in the beta-band (15-30 Hz) range during steady force production. We aimed to measure pathological alteration to CMC resulting from ALS. METHODS: CMC was appraised during a forearm grip task in 17 ALS patients contrasted against age-matched healthy controls...
April 6, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29677099/optimal-adherence-to-a-mediterranean-diet-and-high-muscular-fitness-are-associated-with-a-healthier-cardiometabolic-profile-in-collegiate-students
#7
Robinson Ramírez-Vélez, Jorge Enrique Correa-Bautista, Mónica Liliana Ojeda-Pardo, Carolina Sandoval-Cuellar, Antonio García-Hermoso, Hugo Alejandro Carrillo, Katherine González-Ruíz, Daniel Humberto Prieto-Benavides, Alejandra Tordecilla-Sanders, Arvydas Martinkėnas, César Agostinis-Sobrinho
The aim of the study was to investigate the combined association of adherence to a Mediterranean diet (MedDiet) and muscular fitness (MF) with cardiometabolic health in collegiate students. The present cross-sectional analysis consisted of 1248 (714 females) healthy collegiate students (20.1 ± 2.7 years old). Adherence to a MedDiet was assessed by a KIDMED (Mediterranean Diet Quality Index) questionnaire. Standing broad jump, standing vertical jump, and isometric handgrip dynamometry were used as indicators of MF...
April 20, 2018: Nutrients
https://www.readbyqxmd.com/read/29674667/a-mixed-periodic-paralysis-myotonia-mutant-p1158s-imparts-ph-sensitivity-in-skeletal-muscle-voltage-gated-sodium-channels
#8
Mohammad-Reza Ghovanloo, Mena Abdelsayed, Colin H Peters, Peter C Ruben
Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. Myotonia is defined by a delayed relaxation after muscular contraction, whereas periodic paralysis is defined by episodic attacks of weakness. One sub-type of periodic paralysis, known as hypokalemic periodic paralysis (hypoPP), is associated with low potassium levels. Interestingly, the P1158S missense mutant, located in the third domain S4-S5 linker of the "skeletal muscle", Nav1...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29673906/interest-of-next-generation-sequencing-in-bcg-treated-high-risk-bladder-cancer
#9
C Jungels, N Martinez Chanza, S Albisinni, M Mercier, N d'Haene, S Rorive, T Roumeguère
OBJECTIVES: There are only few predictive factors for response of non-musculo-invasive bladder cancer (NMIBC) to Bacillus Calmette-Guérin (BCG) therapy. Our study analyzed the results of the sequencing of new generation (NGS) targeted on 50 genes of oncological interest obtained on bladder resection parts in high-risk NMIBC patients treated with BCG, to describe this population from a molecular point of view and try to correlate these results in patients who present or not recurrence after BCG...
April 16, 2018: Progrès en Urologie
https://www.readbyqxmd.com/read/29673006/electro-vectorcardiographic-demonstration-of-bifascicular-block-associated-with-ventricular-preexcitation
#10
Andrés R Pérez-Riera, Raimundo Barbosa-Barros, Rodrigo Daminello-Raimundo, Luiz Carlos de Abreu, Kjell Nikus
Down syndrome occurs more frequently in the offsprings of older pregnant women and may be associated with atrioventricular septal defect. This refers to a broad spectrum of malformations characterized by a deficiency of the atrioventricular septum and abnormalities of the atrioventricular valves caused by an abnormal fusion of the superior and inferior endocardial cushions with the midportion of the atrial septum and the muscular portion of the ventricular septum.
April 19, 2018: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29672717/antisense-oligonucleotides-correct-the-familial-dysautonomia-splicing-defect-in-ikbkap-transgenic-mice
#11
Rahul Sinha, Young Jin Kim, Tomoki Nomakuchi, Kentaro Sahashi, Yimin Hua, Frank Rigo, C Frank Bennett, Adrian R Krainer
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. The mutation weakens the 5' splice site of exon 20, causing this exon to be skipped, thereby introducing a premature termination codon. Though detailed FD pathogenesis mechanisms are not yet clear, correcting the splicing defect in the relevant tissue(s), thus restoring normal expression levels of the full-length IKAP protein, could be therapeutic...
April 17, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29672276/blocking-p62-sqstm1-dependent-smn-degradation-ameliorates-spinal-muscular-atrophy-disease-phenotypes
#12
Natalia Rodriguez-Muela, Andrey Parkhitko, Tobias Grass, Rebecca M Gibbs, Erika M Norabuena, Norbert Perrimon, Rajat Singh, Lee L Rubin
Spinal muscular atrophy (SMA), a degenerative motor neuron (MN) disease caused by loss of functional SMN protein due to SMN1 gene mutations, is a leading cause of infant mortality. Increasing SMN levels ameliorates the disease phenotype and is unanimously accepted as a therapeutic approach for SMA patients. The ubiquitin/proteasome system is known to regulate SMN protein levels; however whether autophagy controls SMN levels remains poorly explored. Here we show that SMN protein is degraded by autophagy. Pharmacological and genetic inhibition of autophagy increase SMN levels, while induction of autophagy decreases SMN...
April 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29671051/update-on-muscle-disease
#13
J Witherick, S Brady
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions...
April 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29670997/burn-survivors-pulmonary-and-muscular-impairment-exercise-tolerance-and-return-to-work-following-medical-vocational-rehabilitation-a-long-term-follow-up
#14
Viveca Björnhagen, Kristina Schüldt Ekholm, Flemming Larsen, Jan Ekholm
OBJECTIVE: To follow up the long-term outcome in return-to-work (RTW) rate in burn-injury patients, and to determine the degree of impairment in pulmonary and muscular function and exercise tolerance. DESIGN: A prospective, longitudinal follow-up study without a control group. PATIENTS: Twenty-five burn-injury patients referred for medical-vocational rehabilitation. METHODS: Return-to-work rate was followed after completed medical-vocational rehabilitation...
April 19, 2018: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29670905/cortical-bone-trajectory-screws-in-posterior-lumbar-interbody-fusion-minimally-invasive-surgery-for-maximal-muscle-sparing-a-prospective-comparative-study-with-the-traditional-open-technique
#15
Nicola Marengo, Marco Ajello, Michele Federico Pecoraro, Giulia Pilloni, Giovanni Vercelli, Fabio Cofano, Francesco Zenga, Alessandro Ducati, Diego Garbossa
Introduction: A prospective comparative study between classical posterior interbody fusion with peduncular screws and the new technique with divergent cortical screws was conducted. Material and Methods: Only patients with monosegmental degenerative disease were recruited into this study. We analyzed a cohort of 40 patients treated from January 2015 to March 2016 divided into 2 groups (20 patients went to traditional open surgery and 20 patients under mini-invasive strategy)...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29669851/systemic-administration-of-the-antisense-oligonucleotide-ns-065-ncnp-01-for-skipping-of-exon-53-in-patients-with-duchenne-muscular-dystrophy
#16
Hirofumi Komaki, Tetsuya Nagata, Takashi Saito, Satoru Masuda, Eri Takeshita, Masayuki Sasaki, Hisateru Tachimori, Harumasa Nakamura, Yoshitsugu Aoki, Shin'ichi Takeda
Duchenne muscular dystrophy (DMD) is a lethal hereditary muscle disease caused by mutations in the gene encoding the muscle protein dystrophin. These mutations result in a shift in the open reading frame leading to loss of the dystrophin protein. Antisense oligonucleotides (ASOs) that induce exon skipping correct this frame shift during pre-mRNA splicing and partially restore dystrophin expression in mouse and dog models. We conducted a phase 1, open-label, dose-escalation clinical trial to determine the safety, pharmacokinetics, and activity of NS-065/NCNP-01, a morpholino ASO that enables skipping of exon 53...
April 18, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29669436/heme-oxygenase-1-influences-satellite-cells-and-progression-of-duchenne-muscular-dystrophy-in-mice
#17
Katarzyna Pietraszek-Gremplewicz, Magdalena Kozakowska, Iwona Bronisz-Budzynska, Maciej Ciesla, Olga Mucha, Paulina Podkalicka, Magdalena Madej, Urszula Glowniak, Krzysztof Tomasz Szade, Jacek Stepniewski, Mateusz Jez, Kalina Andrysiak, Karolina Bukowska-Strakova, Anna Kaminska, Anna Kostera-Pruszczyk, Alicja Jozkowicz, Agnieszka Loboda, Jozef Dulak
AIMS: Muscle damage in Duchenne Muscular Dystrophy (DMD) caused by the lack of dystrophin is strongly linked to inflammation. Heme oxygenase-1 (HO-1; Hmox1) is an anti-inflammatory and cytoprotective enzyme affecting myoblasts differentiation by inhibiting myomirs. The role of HO-1 has not been so far well addressed in DMD. RESULTS: In dystrophin-deficient mdx mice expression of Hmox1 in limb skeletal muscles and diaphragm is higher than in wild-type animals, being consistently elevated from 8 up to 52 weeks, both in myofibres and inflammatory leukocytes...
April 19, 2018: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29669293/three-dimensional-human-ipsc-derived-artificial-skeletal-muscles-model-muscular-dystrophies-and-enable-multilineage-tissue-engineering
#18
Sara Martina Maffioletti, Shilpita Sarcar, Alexander B H Henderson, Ingra Mannhardt, Luca Pinton, Louise Anne Moyle, Heather Steele-Stallard, Ornella Cappellari, Kim E Wells, Giulia Ferrari, Jamie S Mitchell, Giulia E Tyzack, Vassilios N Kotiadis, Moustafa Khedr, Martina Ragazzi, Weixin Wang, Michael R Duchen, Rickie Patani, Peter S Zammit, Dominic J Wells, Thomas Eschenhagen, Francesco Saverio Tedesco
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced pluripotent stem cells (iPSCs) from patients with Duchenne, limb-girdle, and congenital muscular dystrophies. 3D skeletal myogenic differentiation of pluripotent cells was induced within hydrogels under tension to provide myofiber alignment. Artificial muscles recapitulated characteristics of human skeletal muscle tissue and could be implanted into immunodeficient mice...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29669172/the-cardiorespiratory-response-and-physiological-determinants-of-the-assisted-6-minute-handbike-cycle-test-in-adult-males-with-muscular-dystrophy
#19
Christopher I Morse, Emma L Bostock, Harriet M Twiss, Laura H Kapp, Paul Orme, Matthew F Jacques
INTRODUCTION: Assisted six-minute cycle test (A6MCT) distance was assessed in adults with muscular dystrophy (MD). METHODS: Forty-eight males, including Duchenne (DMD), limb-girdle (LGMD), fascioscapulohumeral (FSHD), Becker (BMD), and non-MD (CTRL), completed handgrip strength (HGS), lung function (FEV1, FVC), body fat and biceps thickness assessments. During the A6MCT, ventilation (VE), oxygen uptake (VO2 ), carbon dioxide (VCO2 ) and heart rate (HR) were recorded...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29668804/morphology-of-the-diaphragm-muscle-in-southern-tamandua-tamandua-tetradactyla-and-its-importance-in-cases-of-traumatic-hernia
#20
Érica F S Azevedo, Daniela R Costa E Silva, Tamires V S Natividade, Elane G Giese, Ana Rita DE Lima, Paola C Soares, Érika Branco
The wall of the diaphragm can be affected by changes caused by physical trauma, allowing the passage of viscera between the abdominal cavity and thoracic cavity, thus reducing the space for pulmonary expansion, leading to the formation of hernia and possible death. Thus, we aimed to characterize, size and determine the topography of the diaphragmatic muscle in the Southern Tamandua, since clinical and surgical activities in wild animals have become a reality more and more present in veterinary medicine. We used six adult animals, x-rayed and dissected, followed by collection of fragments of muscular portions for histological analysis...
April 16, 2018: Anais da Academia Brasileira de Ciências
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