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https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#1
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old girl with learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability responsive to albuterol sulfate. Failure of neuromuscular transmission was confirmed by single fiber electromyography...
February 14, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29432614/identification-of-an-ac-n-microsatellite-in-the-six1-gene-promoter-and-its-effect-on-production-traits-in-pietrain-%C3%A3-duroc-%C3%A3-landrace-%C3%A3-yorkshire-pigs
#2
W J Wu, K Q Liu, B J Li, C Dong, Z K Zhang, P H Li, R H Huang, W Wei, J Chen, H L Liu
The Sine oculis homeobox 1 (Six1) gene is important for skeletal muscle growth and fiber specification; therefore, it is considered as a promising candidate gene that may influence porcine growth and meat quality traits. Nevertheless, the association of Six1 with these processes, and the mechanisms regulating its expression, remain unclear. The objectives of this study were to identify variant sites of in Six1 in different pig breeds, conduct association analysis to evaluated the relationship between polymorphisms of theses variants and porcine production traits in Pietrainm × Duroc × Landrace × Yorkshire (P×D×L×Y) commercial pigs, and explore the potential regulatory mechanisms of Six1 affecting production traits...
February 8, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29417745/effect-of-speed-endurance-training-and-reduced-training-volume-on-running-economy-and-single-muscle-fiber-adaptations-in-trained-runners
#3
Casper Skovgaard, Danny Christiansen, Peter M Christensen, Nicki W Almquist, Martin Thomassen, Jens Bangsbo
The aim of the present study was to examine whether improved running economy with a period of speed endurance training and reduced training volume could be related to adaptations in specific muscle fibers. Twenty trained male (n = 14) and female (n = 6) runners (maximum oxygen consumption (VO2 -max): 56.4 ± 4.6 mL/min/kg) completed a 40-day intervention with 10 sessions of speed endurance training (5-10 × 30-sec maximal running) and a reduced (36%) volume of training. Before and after the intervention, a muscle biopsy was obtained at rest, and an incremental running test to exhaustion was performed...
February 2018: Physiological Reports
https://www.readbyqxmd.com/read/29412689/branched-fibers-from-old-fast-twitch-dystrophic-muscles-are-the-sites-of-terminal-damage-in-muscular-dystrophy
#4
Leonit Kiriaev, Sindy Kueh, John W Morley, Kathryn N North, Peter J Houweling, Stewart I Head
A striking pathological feature of dystrophinopathies is the presence of morphologically abnormal branched skeletal muscle fibers. The deterioration of muscle contractile function in Duchenne muscular dystrophy is accompanied by both an increase in number and complexity of these branched fibers. We propose that when number and complexity of branched fibers reaches a critical threshold, "tipping point" the branches in and of themselves are the site of contraction-induced rupture. In the present study, we use the dystrophic mdx mouse and littermate controls to study the pre-diseased dystrophic fast-twitch EDL muscle at 2-3-weeks, the peak myonecrotic phase at 6-9 weeks and finally "old" at 58-112 weeks...
February 7, 2018: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29405034/revisiting-the-gamma-loop-in-als
#5
Fiona Limanaqi, Stefano Gambardella, Gloria Lazzeri, Michela Ferrucci, Stefano Ruggieri, Francesco Fornai
Amyotrophic Lateral Sclerosis (ALS) is a fast progressive neurodegenerative disease characterized by muscle denervation, weakening and atrophy, which eventually culminates into death, mainly due to respiratory failure. The traditional view of ALS as a disorder affecting selectively motor neurons throughout the central nervous system has been progressively dispelled by innumerous lines of evidence indicating that other cells but motor neurons may be affected as well. Remarkably, this disorder is not limited to the motor system but rather configures as a systemic disease yielding a plethora of clinical signs...
December 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/29390370/coexisting-myasthenia-gravis-myositis-and-polyneuropathy-induced-by-ipilimumab-and-nivolumab-in-a-patient-with-non-small-cell-lung-cancer-a-case-report-and-literature-review
#6
Jia-Hung Chen, Kang-Yun Lee, Chaur-Jong Hu, Chen-Chih Chung
RATIONALE: Immune checkpoint inhibitors have led to the development of new approaches for cancer treatment with positive outcomes. However, checkpoint blockade is associated with a unique spectrum of immune-related adverse events (irAEs), which may cause irreversible neurological deficits and even death. PATIENT CONCERNS: We presented a case of a 57-year-old man with non-small-cell lung cancer.who developed ptosis, dyspnea, and muscle weakness as initial symptoms with progression after the treatment with ipilimumab and nivolumab...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29387554/testosterone-replacement-maintains-smooth-muscle-content-in-the-corpus-cavernosum-of-orchiectomized-rats
#7
Graziele Halmenschlager, Ernani Luis Rhoden, Gabriela Almeida Motta, Lucas Sagrillo Fagundes, Jorge Luiz Medeiros, Rosalva Meurer, Cláudia Ramos Rhoden
Objective: To evaluate the effects of testosterone (T) on the maintenance of corpus cavernosum (CC) structure and apoptosis. Methods: Animals were divided into three groups: sham operation group (n = 8) underwent sham operation; Orchiectomized (Orchiec)+ oily vehicle group (n = 8) underwent bilateral orchiectomy and received a single dose of oily vehicle by intramuscular injection (i.m.) 30 days after orchiectomy; and Orchiec + T group (n = 8) underwent bilateral orchiectomy and received a single dose of T undecanoate 100 mg/kg i...
October 2017: Asian Journal of Urology
https://www.readbyqxmd.com/read/29374849/zebrafish-embryonic-slow-muscle-is-a-rapid-system-for-genetic-analysis-of-sarcomere-organization-by-crispr-cas9-but-not-ngago
#8
Mengxin Cai, Yufeng Si, Jianshe Zhang, Zhenjun Tian, Shaojun Du
Zebrafish embryonic slow muscle cells, with their superficial localization and clear sarcomere organization, provide a useful model system for genetic analysis of muscle cell differentiation and sarcomere assembly. To develop a quick assay for testing CRISPR-mediated gene editing in slow muscles of zebrafish embryos, we targeted a red fluorescence protein (RFP) reporter gene specifically expressed in slow muscles of myomesin-3-RFP (Myom3-RFP) zebrafish embryos. We demonstrated that microinjection of RFP-sgRNA with Cas9 protein or Cas9 mRNA resulted in a mosaic pattern in loss of RFP expression in slow muscle fibers of the injected zebrafish embryos...
January 27, 2018: Marine Biotechnology
https://www.readbyqxmd.com/read/29372481/the-importance-of-muscular-strength-training-considerations
#9
REVIEW
Timothy J Suchomel, Sophia Nimphius, Christopher R Bellon, Michael H Stone
This review covers underlying physiological characteristics and training considerations that may affect muscular strength including improving maximal force expression and time-limited force expression. Strength is underpinned by a combination of morphological and neural factors including muscle cross-sectional area and architecture, musculotendinous stiffness, motor unit recruitment, rate coding, motor unit synchronization, and neuromuscular inhibition. Although single- and multi-targeted block periodization models may produce the greatest strength-power benefits, concepts within each model must be considered within the limitations of the sport, athletes, and schedules...
January 25, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29372252/a-novel-type-of-multiterminal-motor-endplate-in-human-extraocular-muscles
#10
Jing-Xia Liu, Fatima Pedrosa Domellöf
Purpose: To investigate the relation between type of motor endplate, acetylcholine receptor (AChR) subunit composition, and fiber types in human extraocular muscles (EOMs). Methods: EOM samples collected from subjects aged 34 to 82 years were serially sectioned and processed for immunohistochemistry, with specific antibodies against different myosin heavy chain (MyHC) isoforms, neurofilament, synaptophysin, and adult epsilon (ε) and fetal gamma (γ) AChR subunits as well as α-bungarotoxin...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29364044/linc-ram-is-required-for-fgf2-function-in-regulating-myogenic-cell-differentiation
#11
Yixia Zhao, Fengqi Cao, Xiaohua Yu, Chuyan Chen, Jiao Meng, Ran Zhong, Yong Zhang, Dahai Zhu
Myogenic differentiation of skeletal muscle stem cells, also known satellite cells, is tightly orchestrated by extrinsic and intrinsic regulators. Basic fibroblast growth factor (FGF2) is well documented to be implicated in satellite cell self-renewal and differentiation by repressing MyoD. We recently identified a MyoD-regulated and skeletal muscle-specifically expressed long non-coding RNA Linc-RAM which enhances myogenic differentiation by facilitating MyoD/Baf60c/Brg1 complex assembly. Herein, we investigated the transcriptional regulation and intracellular signaling pathway in mediating Linc-RAM gene expression during muscle cell differentiation...
January 24, 2018: RNA Biology
https://www.readbyqxmd.com/read/29359257/speedup-computation-of-hd-semg-signals-using-a-motor-unit-specific-electrical-source-model
#12
Vincent Carriou, Sofiane Boudaoud, Jeremy Laforet
Nowadays, bio-reliable modeling of muscle contraction is becoming more accurate and complex. This increasing complexity induces a significant increase in computation time which prevents the possibility of using this model in certain applications and studies. Accordingly, the aim of this work is to significantly reduce the computation time of high-density surface electromyogram (HD-sEMG) generation. This will be done through a new model of motor unit (MU)-specific electrical source based on the fibers composing the MU...
January 23, 2018: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/29357518/fiber-type-specific-analysis-of-ampk-isoforms-in-human-skeletal-muscle-advancement-in-methods-via-capillary-nano-immunoassay
#13
Irene S Tobias, Kara K Lazauskas, Jose A Arevalo, James Robert Bagley, Lee E Brown, Andrew J Galpin
Human skeletal muscle is a heterogeneous mixture of multiple fiber types (FT). Unfortunately, current methods for FT-specific study are constrained by limits of protein detection in single muscle fiber samples. These limitations beget compensatory resource-intensive procedures, ultimately dissuading FT-specific research. Additionally, previous studies neglected hybrid FT, confining their analyses to only pure FT. Here we present novel methods of protein detection across a wider spectrum of human skeletal muscle FT using fully automated capillary nano-immunoassay (CNIA) technology...
December 14, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29357517/motor-unit-territories-in-human-genioglossus-estimated-with-multi-channel-intramuscular-electrodes
#14
Billy L Luu, Silvia Muceli, Julian P Saboisky, Dario Farina, Martin Eric Héroux, Lynne E Bilston, Simon C Gandevia, Jane E Butler
The discharge patterns of genioglossus motor units during breathing have been well characterized in previous studies; but their localisation and territories are not known. In this study, we used two newly-developed intramuscular multi-channel electrodes to estimate the territories of genioglossus motor units in the anterior and posterior regions of the muscle. Seven healthy males participated. Each electrode contained 15 bipolar channels, separated by 1 mm, and was inserted percutaneously below the chin, perpendicular to the skin, to a depth of 36 mm...
December 14, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29354295/morphological-classification-and-comparison-of-suboccipital-muscle-fiber-characteristics
#15
Masato Yamauchi, Masahito Yamamoto, Kei Kitamura, Sumiharu Morita, Ryotaro Nagakura, Satoru Matsunaga, Shinichi Abe
In an attempt to clarify the function of the suboccipital muscles, we performed morphological observation of the suboccipital muscles for variations in the muscle belly and compared the morphology of their muscle fibers in terms of cross-sectional area by immunostaining with anti-myosin heavy chain antibodies. The cadavers of 25 Japanese individuals were used: 22 for morphological examinations and three for histological examinations. Among samples of the rectus capitis posterior major muscle (RCPma) and rectus capitis posterior minor muscle (RCPmi), 86...
December 2017: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/29335929/computational-model-to-investigate-the-relative-contributions-of-different-neuromuscular-properties-of-tibialis-anterior-on-force-generated-during-ankle-dorsiflexion
#16
Ariba Siddiqi, Sridhar Poosapadi Arjunan, Dinesh Kant Kumar
This study describes a new model of the force generated by tibialis anterior muscle with three new features: single-fiber action potential, twitch force, and pennation angle. This model was used to investigate the relative effects and interaction of ten age-associated neuromuscular parameters. Regression analysis (significance level of 0.05) between the neuromuscular properties and corresponding simulated force produced at the footplate was performed. Standardized slope coefficients were computed to rank the effect of the parameters...
January 16, 2018: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/29305081/extending-knowledge-of-the-clinical-picture-of-balkan-adder-vipera-berus-bosniensis-envenoming-the-first-photographically-documented-neurotoxic-case-from-south-western-hungary
#17
Csaba Varga, Tamás Malina, Viktória Alföldi, Gergely Bilics, Ferenc Nagy, Tibor Oláh
We report a severe envenoming associated with minimal local symptoms following a Balkan adder (Vipera berus bosniensis) bite in South-Western Hungary. A 63-year-old male with a history of hypertension and sinus bradycardia (45/min) was bitten by a sub-adult specimen of V. b. bosniensis in Somogy County on 04 May 2017. The patient was transported to and treated at the Emergency Department of Somogy County "Moritz Kaposi" General Hospital, Kaposvár. Locally only pain and minimal swelling with a small haematoma developed on the bitten finger...
January 2, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29289885/structural-and-biological-characterization-of-new-hybrid-drugs-joining-an-hdac-inhibitor-to-different-no-donors
#18
Sandra Atlante, Konstantin Chegaev, Chiara Cencioni, Stefano Guglielmo, Elisabetta Marini, Emily Borretto, Carlo Gaetano, Roberta Fruttero, Francesco Spallotta, Loretta Lazzarato
HDAC inhibitors and NO donors have already revealed independently their broad therapeutic potential in pathologic contexts. Here we further investigated the power of their combination in a single hybrid molecule. Nitrooxy groups or substituted furoxan derivatives were joined to the α-position of the pyridine ring of the selective class I HDAC inhibitor MS-275. Biochemical analysis showed that the association with the dinitrooxy compound 31 or the furoxan derivative 16 gives hybrid compounds the ability to preserve the single moiety activities...
December 15, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29289710/early-molecular-response-and-microanatomical-changes-in-the-masseter-muscle-and-mandibular-head-after-botulinum-toxin-intervention-in-adult-mice
#19
Julián Balanta-Melo, Viviana Toro-Ibacache, Maria Angélica Torres-Quintana, Kornelius Kupczik, Carolina Vega, Camilo Morales, Nadia Hernández-Moya, Manuel Arias-Calderón, Carolina Beato, Sonja Buvinic
BACKGROUND: Masseter muscle paralysis induced by botulinum toxin type A (BoNTA) evokes subchondral bone loss in mandibular heads of adult rats and growing mice after 4 weeks. However, the primary cellular and molecular events leading to altered bone remodeling remain unexplored. Thus, the aim of the current work has been to assess the molecular response that precedes the early microanatomical changes in the masseter muscle and subchondral bone of the mandibular head in adult mice after BoNTA intervention...
December 28, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/29251569/wet-spun-biofiber-for-torsional-artificial-muscles
#20
Azadeh Mirabedini, Shazed Aziz, Geoffrey M Spinks, Javad Foroughi
The demands for new types of artificial muscles continue to grow and novel approaches are being enabled by the advent of new materials and novel fabrication strategies. Self-powered actuators have attracted significant attention due to their ability to be driven by elements in the ambient environment such as moisture. In this study, we demonstrate the use of twisted and coiled wet-spun hygroscopic chitosan fibers to achieve a novel torsional artificial muscle. The coiled fibers exhibited significant torsional actuation where the free end of the coiled fiber rotated up to 1155 degrees per mm of coil length when hydrated...
December 2017: Soft Robotics
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