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https://www.readbyqxmd.com/read/28937031/a-novel-agrn-mutation-leads-to-congenital-myasthenic-syndrome-only-affecting-limb-girdle-muscle
#1
Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree. METHODS: We performed a detailed clinical assessment of a Chinese family with three affected members...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28935824/effects-of-expiratory-muscle-activation-via-high-frequency-spinal-cord-stimulation
#2
Krzysztof E Kowalski, Jaroslaw Richard Romaniuk, Tomasz Kowalski, Anthony F DiMarco
In persons with spinal cord injury, lower thoracic low frequency spinal cord stimulation (LF-SCS, 50Hz,15mA) is a useful method to restore an effective cough. Unfortunately, the high stimulus amplitude requirements and potential activation of pain fibers significantly limits this application in persons with intact sensation. In this study, the mechanism of the expiratory muscle activation, via high frequency SCS (HF-SCS;500Hz,1mA) was evaluated in dogs. In group one, the effects of electrode placement on airway pressure generation (P) was evaluated...
September 21, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28935809/intake-of-chocolate-liquor-increases-vascular-lesions-in-apoe-knockout-mice
#3
Narges Yazdekhasti, Corinna Brandsch, Frank Hirche, Julia Kühn, Anke Schloesser, Tuba Esatbeygolu, Patricia Huebbe, Sigfried Wolffram, Gerald Rimbach, Gabriele I Stangl
Cocoa polyphenols are thought to reduce the risk of cardiovascular diseases. Thus, cocoa-containing foods may have significant health benefits. Here, we studied the impact of chocolate liquor on vascular lesion development and plaque composition in a mouse model of atherosclerosis. Apolipoprotein E (apoE)-knockout mice were assigned to two groups and fed a Western diet that contained 250 g/kg of either chocolate liquor or a polyphenol-free isoenergetic control paste for 16 weeks. In addition to fat, protein and fibers, the chocolate liquor contained 2 g/kg of polyphenols...
September 21, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28935143/vitamin-e-treatment-decreases-muscle-injury-in-mdx-mice
#4
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/28933185/identification-and-distribution-of-the-interstitial-cells-of-cajal-in-the-abomasum-of-goats
#5
Lingling Wang, Yu Liang, Qiusheng Chen, Nisar Ahmed, Feng Wang, Bing Hu, Ping Yang
The interstitial cells of Cajal (ICCs) are regarded as pacemakers and are involved in neurotransmission in the gastrointestinal tract (GIT) of animals. However, limited information is available about the existence of ICCs within the GIT of ruminants. In this study, we investigated the ultrastructural characteristics and distribution of ICCs in goat abomasum using transmission electron microscopy and c-kit immunohistochemistry. Two different kinds of c-kit immunoreactive cells were observed in the abomasum. The first was identified as ICCs, which appeared to be multipolar or bipolar in shape, with some processes...
January 1, 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28933017/present-uses-future-applications-and-technical-underpinnings-of-electrical-impedance-myography
#6
REVIEW
Benjamin Sanchez, Seward B Rutkove
PURPOSE OF REVIEW: In this article, we provide an overview of electrical impedance myography (EIM), including its technical and theoretical basis, a summary of its varied applications, and ongoing developments. RECENT FINDINGS: EIM has been used as a disease severity biomarker in a variety of disorders affecting the muscle, ranging from amyotrophic lateral sclerosis (ALS) to muscular dystrophies to disuse atrophy due to the weightlessness of space. In ALS, studies have demonstrated that major reductions in sample size in clinical trials can be achieved...
September 20, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28932129/american-insight-into-strabismus-surgery-before-1838
#7
REVIEW
Christopher T Leffler, Stephen G Schwartz, John Q Le
English surgeon John Taylor attempted to perform strabismus surgery in the 18th century. The field languished until, in Germany, treatment of strabismus by cutting an extraocular muscle was proposed by Louis Stromeyer in 1838 and performed by Johann Friedrich Dieffenbach in 1839. According to traditional teaching, there has never been any proof that anyone in the United States thought of the idea of strabismus surgery before Stromeyer's report. In 1841, American surgeon William Gibson wrote that he had cut extraocular muscles to treat strabismus several times beginning in 1818 but never published his cases...
2017: Ophthalmology and Eye Diseases
https://www.readbyqxmd.com/read/28931726/impaired-insulin-igf-1-is-responsible-for-diabetic-gastroparesis-by-damaging-myenteric-cholinergic-neurons-and-interstitial-cells-of-cajal
#8
Shu Yang, Bo Wu, Haimei Sun, Tingyi Sun, Kai Han, Dandan Li, Fengqing Ji, Guoquan Zhang, Deshan Zhou
Diabetic gastroparesis is a common complication of diabetes mellitus (DM) that is characterized by decreased serum insulin and insulin-like growth factor-1 (IGF-1). Despite the fact that insulin treatment but not glycemic control potently accelerated gastric emptying in type 1 DM patients, the role of insulin/InsR and IGF-1/IGF-1R signaling in diabetic gastroparesis remains incompletely elucidated. In this study, type 1 DM mice were established and treated with insulin or Voglibose for 8 weeks. The gastric emptying was delayed from DM week 4 when the gastric InsR and IGF-1R were declined...
September 20, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28931495/a-review-of-sarcopenia-enhancing-awareness-of-an-increasingly-prevalent-disease
#9
REVIEW
Eric Marty, Yi Liu, Andre Samuel, Omer Or, Joseph Lane
Sarcopenia is defined as an age associated decline in skeletal muscle mass. The pathophysiology of sarcopenia is multifactorial, with decreased caloric intake, muscle fiber denervation, intracellular oxidative stress, hormonal decline, and enhanced myostatin signaling all thought to contribute. Prevalence rates are as high as 29% and 33% in community dwelling and long-term care populations, respectively, with advanced age, low body mass index, and low physical activity as significant risk factors. Sarcopenia shares many characteristics with other disease states typically associated with risk of fall and fracture, including osteoporosis, frailty, and obesity...
September 17, 2017: Bone
https://www.readbyqxmd.com/read/28929274/minimally-invasive-posterior-cervical-foraminotomy-for-treatment-of-radiculopathy-an-effective-time-tested-and-cost-efficient-motion-preservation-technique
#10
REVIEW
L Papavero, R Kothe
OBJECTIVE: To relieve foraminal root impingement due to lateral soft disc fragments, bony spurs, or other rarer causes. INDICATIONS: Soft disc fragment whose bulk is >2/3 lateral to the lateral border of the thecal sac. Intraforaminal dorsal bony narrowing of the root canal. Intraforaminal synovial cyst, extra/intradural tumor. CONTRAINDICATIONS: Paramedian and median soft/hard disc protrusions. Kyphosis of the index level. SURGICAL TECHNIQUE: Patient prone in reverse Trendelenburg position with the head fixed in a Mayfield clamp...
September 19, 2017: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/28927901/age-related-reductions-in-muscle-quality-influence-the-relative-differences-in-strength-and-power
#11
Gena R Gerstner, Hayden K Giuliani, Jacob A Mota, Eric D Ryan
Age-related changes in the relative differences in isokinetic strength and power may reflect fast twitch fiber function. We aimed to examine the influence of muscle quality on the relative differences in strength and power in younger and older men. Twenty younger (20.1±1.5yrs) and 20 older (69.5±3.1yrs) healthy, recreationally active men performed two plantarflexion maximal voluntary isometric contractions (MVCs) and three maximal concentric isokinetic contractions at a slow (0.52rad·s(-1)) and fast (2.09rad·s(-1)) velocity...
September 16, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28927399/novel-phenotypic-variant-in-the-myh7-spectrum-due-to-a-stop-loss-mutation-in-the-c-terminal-region-a-case-report
#12
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh
BACKGROUND: Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion, multi-minicore disease were also reported in connection of MYH7. Pathogeneses of the defects in the head and proximal rod region of the protein are well described. However, the C-terminal mutations of the MYH7 gene are less known...
September 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28924247/low-level-activity-thresholds-for-changes-in-nmr-biomarkers-and-genes-in-high-risk-subjects-for-type-2-diabetes
#13
Karl-Heinz Herzig, Juhani Leppäluoto, Jari Jokelainen, Emmanuelle Meugnier, Sandra Pesenti, Harri Selänne, Kari A Mäkelä, Riikka Ahola, Timo Jämsä, Hubert Vidal, Sirkka Keinänen-Kiukaanniemi
Our objectives were to determine if there are quantitative associations between amounts and intensities of physical activities (PA) on NMR biomarkers and changes in skeletal muscle gene expressions in subjects with high risk for type 2 diabetes (T2D) performing a 3-month PA intervention. We found that PA was associated with beneficial biomarker changes in a factor containing several VLDL and HDL subclasses and lipids in principal component analysis (P = <0.01). Division of PA into quartiles demonstrated significant changes in NMR biomarkers in the 2nd - 4th quartiles compared to the 1st quartile representing PA of less than 2850 daily steps (P = 0...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28922975/bioengineered-submucosal-organoids-for-in-vitro-modeling-of-colorectal-cancer
#14
Mahesh Devarasetty, Aleksander Skardal, Kyle Cowdrick, Frank Marini, Shay Soker
The physical nature of the tumor microenvironment significantly impacts tumor growth, invasion and response to drugs. Most in vitro tumor models are designed to study the effects of extracellular matrix (ECM) stiffness on tumor cells, while not addressing the effects of ECM's specific topography. In this study we bioengineered submucosal organoids, using primary smooth muscle cells (SMCs) embedded in collagen I (Col I) hydrogel, which produce aligned and parallel fiber topography similar to those found in vivo...
September 19, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28919863/oxygen-uptake-kinetics-is-slower-in-swimming-than-arm-cranking-and-cycling-during-heavy-intensity
#15
Ana Sousa, Fabio Borrani, Ferran A Rodríguez, Grégoire P Millet
Oxygen uptake ([Formula: see text]) kinetics has been reported to be influenced by the activity mode. However, only few studies have compared [Formula: see text]O2 kinetics between activities in the same subjects in which they were equally trained. Therefore, this study compared the [Formula: see text]O2 kinetics response to swimming, arm cranking, and cycling within the same group of subjects within the heavy exercise intensity domain. Ten trained male triathletes (age 23.2 ± 4.5 years; height 180.8 ± 8...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28918572/spot-light-on-skeletal-muscles-optogenetic-stimulation-to-understand-and-restore-skeletal-muscle-function
#16
Tobias van Bremen, Thorsten Send, Philipp Sasse, Tobias Bruegmann
Damage of peripheral nerves results in paralysis of skeletal muscle. Currently, the only treatment option to restore proper function is electrical stimulation of the innervating nerve or of the skeletal muscles directly. However this approach has low spatial and temporal precision leading to co-activation of antagonistic muscles and lacks cell-type selectivity resulting in pain or discomfort by stimulation of sensible nerves. In contrast to electrical stimulation, optogenetic methods enable spatially confined and cell-type selective stimulation of cells expressing the light sensitive channel Channelrhodopsin-2 with precise temporal control over the membrane potential...
September 16, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28918475/octopaminergic-innervation-and-a-neurohaemal-release-site-in-the-antennal-heart-of-the-locust-schistocerca-gregaria
#17
Victoria Antemann, Günther Pass, Hans-Joachim Pflüger
A detailed account is given by the octopaminergic innervation of the antennal heart in Schistocerca gregaria using various immunohistochemical methods. Anterograde axonal filling illustrates the unilateral innervation on the medial ventral surface of the pumping muscle of the antennal heart via the paired corpora cardiaca nerve III. In addition, antibody staining revealed that ascending axons of this nerve terminate at the ampullae of the antennal heart forming synaptoid structures and extensive neurohaemal release sites...
September 16, 2017: Journal of Comparative Physiology. A, Neuroethology, Sensory, Neural, and Behavioral Physiology
https://www.readbyqxmd.com/read/28917942/in-vivo-and-in-vitro-testing-of-native-%C3%AE-conotoxins-from-the-injected-venom-of-conus-purpurascens
#18
REVIEW
Mickelene F Hoggard, Alena M Rodriguez, Herminsul Cano, Evan Clark, Han-Shen Tae, David J Adams, Tanja A Godenschwege, Frank Marí
α-Conotoxins inhibit nicotinic acetylcholine receptors (nAChRs) and are used as probes to study cholinergic pathways in vertebrates. Model organisms, such as Drosophila melanogaster, express nAChRs in their CNS that are suitable to investigate the neuropharmacology of α-conotoxins in vivo. Here we report the paired nanoinjection of native α-conotoxin PIA and two novel α-conotoxins, PIC and PIC[O7], from the injected venom of Conus purpurascens and electrophysiological recordings of their effects on the giant fiber system (GFS) of D...
September 13, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28914852/-efficiency-of-immunosuppressive-therapy-in-virus-negative-and-virus-positive-patients-with-morphologically-verified-lymphocytic-myocarditis
#19
O V Blagova, A V Nedostup, E A Kogan, V A Sulimov
AIM: To evaluate the efficiency of immunosuppressive therapy (IST) in virus-negative (V-) and virus-positive (V+) patients with lymphocytic myocarditis (LM). SUBJECTS AND METHODS: 60 patients (45 males) (mean age 46.7±11.8 years) with dilated cardiomyopathy (mean left ventricular (LV) end diastolic size (EDS) 6.7±0.7 cm; ejection fraction (EF) 26.2±9.1%) were examined. The diagnosis of active/borderline LM was verified by right ventricular endomyocardial biopsy in 38 patients, by intraoperative LV biopsy in 10, in the study of explanted hearts from 3 patients and at autopsy in 9...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28914616/effect-of-full-length-carbon-fiber-insoles-on-lower-limb-kinetics-in-patients-with-midfoot-osteoarthritis-a-pilot-study
#20
Taeim Yi, Jung Hyun Kim, Mooyeon Oh-Park, Ji Hye Hwang
OBJECTIVES: We investigated the effects of full-length carbon fiber (FCF) insoles on gait, muscle activity, kinetics, and pain in patients with midfoot osteoarthritis (OA). DESIGN: We enrolled 13 patients with unilateral midfoot OA (mild: Visual Analog Scale [VAS] range, 1-3; moderate, VAS range, 4-7) and healthy controls. All participants were asked to walk under two conditions: with and without FCF insole. The outcome measures were ground reaction force, quantitative gait parameters, electromyography activities and pain severity (VAS)...
September 14, 2017: American Journal of Physical Medicine & Rehabilitation
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