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Muscle Disease

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https://www.readbyqxmd.com/read/28441759/synaptic-homeostasis-and-its-immunological-disturbance-in-neuromuscular-junction-disorders
#1
REVIEW
Masaharu Takamori
In the neuromuscular junction, postsynaptic nicotinic acetylcholine receptor (nAChR) clustering, trans-synaptic communication and synaptic stabilization are modulated by the molecular mechanisms underlying synaptic plasticity. The synaptic functions are based presynaptically on the active zone architecture, synaptic vesicle proteins, Ca(2+) channels and synaptic vesicle recycling. Postsynaptically, they are based on rapsyn-anchored nAChR clusters, localized sensitivity to ACh, and synaptic stabilization via linkage to the extracellular matrix so as to be precisely opposed to the nerve terminal...
April 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28441650/microrna-1185-induces-endothelial-cell-apoptosis-by-targeting-uvrag-and-krit1
#2
Haoyuan Deng, Xia Chu, Zhenfeng Song, Xinrui Deng, Huan Xu, Yaxin Ye, Songtao Li, Qiao Zhang, Changhao Sun, Ying Li
BACKGROUND/AIMS: Atherosclerosis is a multifactorial chronic disease and is the main cause of death and impairment in the world. Endothelial injury and apoptosis play a crucial role in the onset and development of atherosclerosis. MicroRNAs (miRNAs) have been proven to be involved in the pathogenesis of atherosclerosis. However, studies of the functional role of apoptosis-related miRNAs in the endothelium during atherogenesis are limited. METHODS: Cell injury and apoptosis were measured in five types of cells transfected with miR-1185 or co-transfected with miR-1185 and its inhibitor...
April 20, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28441415/pax7-remodels-the-chromatin-landscape-in-skeletal-muscle-stem-cells
#3
Karin C Lilja, Nan Zhang, Alessandro Magli, Volkan Gunduz, Christopher J Bowman, Robert W Arpke, Radbod Darabi, Michael Kyba, Rita Perlingeiro, Brian D Dynlacht
Pluripotent stem cells (PSC) hold great promise for the treatment of human skeletal muscle diseases. However, it remains challenging to convert PSC to skeletal muscle cells, and the mechanisms by which the master regulatory transcription factor, Pax7, promotes muscle stem (satellite) cell identity are not yet understood. We have taken advantage of PSC-derived skeletal muscle precursor cells (iPax7), wherein the induced expression of Pax7 robustly initiates the muscle program and enables the in vitro generation of precursors that seed the satellite cell compartment upon transplantation...
2017: PloS One
https://www.readbyqxmd.com/read/28441414/regional-early-and-progressive-loss-of-brain-pericytes-but-not-vascular-smooth-muscle-cells-in-adult-mice-with-disrupted-platelet-derived-growth-factor-receptor-%C3%AE-signaling
#4
Angeliki Maria Nikolakopoulou, Zhen Zhao, Axel Montagne, Berislav V Zlokovic
Pericytes regulate key neurovascular functions of the brain. Studies in pericyte-deficient transgenic mice with aberrant signaling between endothelial-derived platelet-derived growth factor BB (PDGF-BB) and platelet-derived growth factor receptor β (PDGFRβ) in pericytes have contributed to better understanding of the role of pericytes in the brain. Here, we studied PdgfrβF7/F7 mice, which carry seven point mutations that disrupt PDGFRβ signaling causing loss of pericytes and vascular smooth muscle cells (VSMCs) in the developing brain...
2017: PloS One
https://www.readbyqxmd.com/read/28441214/the-osteo-odonto-keratoprosthesis
#5
Mehran Zarei-Ghanavati, Venkata Avadhanam, Alfonso Vasquez Perez, Christopher Liu
PURPOSE OF REVIEW: To describe the practice of and recent developments in the osteo-odonto-keratoprosthesis. RECENT FINDINGS: Formal psychological assessment and support have been described. A sub-aqua system for fashioning the osteo-odonto-keratoprosthesis lamina; adoption of thicker laminae; use of bisphosphonate drugs; advances in laminar imaging; and use of bone augmentation and bone morphogenetic protein have been described for prevention, detection, and management of laminar resorption...
April 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28440863/fewdon-mnd-syndrome-finger-extension-weakness-and-downbeat-nystagmus-a-novel-motor-neuron-disorder
#6
Aline Delva, Nimish Thakore, Erik Pioro, Koen Poesen, Rachel Saunders-Pullman, Inge A Meijer, Janet C Rucker, John T Kissel, Philip Van Damme
Introduction Disturbances of eye movements are infrequently encountered in motor neuron diseases or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods To describe the core clinical features of a syndrome of motor neuron disease associated with downbeat nystagmus, clinical features were collected from 6 patients. Results All patients had slowly progressive muscle weakness and wasting, in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze...
April 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28440499/effects-of-tanshinone-iia-on-the-regulation-of-renal-proximal-tubular-fibrosis
#7
Luoyuan Cao, Baoying Huang, Xianguo Fu, Jing Yang, Yinghua Lin, Feng Lin
The development of diabetes mellitus, along with its complications, is a chronic inflammatory response process. Chronic kidney diseases are characterized by renal fibrosis, and fibrosis is an important pathway for end‑stage renal failure. According to previous studies, high glucose (HG) has been demonstrated to be the most important fibrogenesis‑inducing agent. Tanshinone IIA is one of the main components isolated from Danshen (Salvia miltiorrhiza). Although tanshinone IIA has been widely used for the treatment of cardiovascular diseases, the possible role of tanshinone IIA in fibrosis regulation remains to be elucidated and requires investigation...
April 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440100/detrimental-effects-of-nicotine-on-thioacetamide-induced-liver-injury-in-mice
#8
Zixiong Zhou, Surim Park, Jong Won Kim, Jing Zhao, Moo-Yeol Lee, Kyung Chul Choi, Chae Woong Lim, Bumseok Kim
AIM: Nicotine exerts a number of physiological effects. The purpose of this study was to determine the effects of nicotine on thioacetamide (TAA)-induced liver fibrosis in mice. MATERIALS AND METHODS: For in vivo experiments, hepatic fibrosis was induced by TAA (0.25 g/kg, i.p.) three times a week for 6 weeks. Mice of TAA treated groups were administered daily with distilled water and nicotine (50 or 100 μg/mL) via gastrogavage throughout the experimental period...
April 25, 2017: Toxicology Mechanisms and Methods
https://www.readbyqxmd.com/read/28439995/scleromyxoedema-in-a-dog
#9
Aurore F Laprais, Petra Bizikova, Erin W Lashnits, Alison Tucker, Keith E Linder
BACKGROUND: In humans, scleromyxoedema is a chronic progressive skin condition traditionally characterized by deposits of mucin, increased number of fibroblasts and fibrosis in the skin, and by systemic disease. Thyroid disease is typically absent. A monoclonal gammopathy is usually present, as are other comorbidities. Descriptions of scleromyxoedema in the veterinary literature are limited to a single feline case. One dog, previously reported as having papular mucinosis, exhibited features that matched the more current diagnostic criteria of scleromyxoedema...
April 24, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28439972/mitochondrial-biogenesis-and-pgc-1%C3%AE-gene-expression-in-male-broilers-from-ascites-susceptible-and-resistant-lines
#10
N Khodambashi Emami, A Golian, M Danesh Mesgaran, N B Anthony, D D Rhoads
Ascites is a cardiovascular metabolic disease characterized by accumulation of fluid around the heart and in the abdominal cavity that eventually leads to death. This syndrome is the end-point result of a series of metabolic incidents that are generally caused by impaired oxygen availability. Mitochondria are the major sites of oxygen consumption, therefore major contributors to oxidative stress. Genetic, metabolic and dietary factors can influence variations in mitochondrial biogenesis (mitochondrial size, number and mass) that might have an effect on oxygen consumption and reactive oxygen species production...
April 25, 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28439848/the-janus-head-of-oxidative-stress-in-metabolic-diseases-and-during-physical-exercise
#11
REVIEW
Dominik Pesta, Michael Roden
PURPOSE OF REVIEW: Oxidative stress describes an imbalance between production and degradation of reactive oxygen species (ROS), which can damage macromolecules. However, ROS may also serve as signaling molecules activating cellular pathways involved in cell proliferation and adaptation. This review describes alterations in metabolic diseases including obesity, insulin resistance, and/or diabetes mellitus as well as responses to acute and chronic physical exercise. RECENT FINDINGS: Chronic upregulation of oxidative stress associates with the development of insulin resistance and type 2 diabetes (T2D)...
June 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28439569/the-obesity-paradox-in-kidney-disease-how-to-reconcile-it-with-obesity-management
#12
Kamyar Kalantar-Zadeh, Connie M Rhee, Jason Chou, S Foad Ahmadi, Jongha Park, Joline Lt Chen, Alpesh N Amin
Obesity, a risk factor for de novo chronic kidney disease (CKD), confers survival advantages in advanced CKD. This so-called obesity paradox is the archetype of the reverse epidemiology of cardiovascular risks, in addition to the lipid, blood pressure, adiponectin, homocysteine, and uric acid paradoxes. These paradoxical phenomena are in sharp contradistinction to the known epidemiology of cardiovascular risks in the general population. In addition to advanced CKD, the obesity paradox has also been observed in heart failure, chronic obstructive lung disease, liver cirrhosis, and metastatic cancer, as well as in the elderly...
March 2017: KI Reports
https://www.readbyqxmd.com/read/28439567/sarcopenia-obesity-and-mortality-in-us-adults-with-and-without-chronic-kidney-disease
#13
Lagu Androga, Deep Sharma, Afolarin Amodu, Matthew K Abramowitz
INTRODUCTION: In pre-dialysis chronic kidney disease (CKD), the association of muscle mass with mortality is poorly defined, and no study has examined outcomes related to the co-occurrence of low muscle mass and excess adiposity (sarcopenic-obesity). Methods: We examined abnormalities of muscle and fat mass in adult participants of the National Health and Nutrition Examination Survey 1999-2004. We determined whether associations of body composition with all-cause mortality differed between participants with CKD compared to those without...
March 2017: KI Reports
https://www.readbyqxmd.com/read/28439558/crispr-cpf1-correction-of-muscular-dystrophy-mutations-in-human-cardiomyocytes-and-mice
#14
Yu Zhang, Chengzu Long, Hui Li, John R McAnally, Kedryn K Baskin, John M Shelton, Rhonda Bassel-Duby, Eric N Olson
Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene (DMD), is characterized by fatal degeneration of striated muscles. Dilated cardiomyopathy is one of the most common lethal features of the disease. We deployed Cpf1, a unique class 2 CRISPR (clustered regularly interspaced short palindromic repeats) effector, to correct DMD mutations in patient-derived induced pluripotent stem cells (iPSCs) and mdx mice, an animal model of DMD. Cpf1-mediated genomic editing of human iPSCs, either by skipping of an out-of-frame DMD exon or by correcting a nonsense mutation, restored dystrophin expression after differentiation to cardiomyocytes and enhanced contractile function...
April 2017: Science Advances
https://www.readbyqxmd.com/read/28439503/circulating-cell-free-nucleic-acids-as-potential-biomarkers-for-sarcopenia-a-step-toward-personalized-medicine
#15
EDITORIAL
Gita Shafiee, Ramin Heshmat, Bagher Larijani
Sarcopenia is an age-related loss of muscle mass and function, leading to disability, morbidity and increased mortality in older people. Given the relatively high prevalence and related- outcome of the disease, correct diagnosis, screening, monitoring and treatment of sarcopenia are needed in clinical practice. Recent researches have focused on cell-free nucleic acids, which are released into the circulation following cell death, as a potential biomarker of aging and systematic inflammation. It seems that the diagnosis and treatment of sarcopenia can be possible by the help of the analysis of cell-free nucleic acids as noninvasive method...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28439217/pediatric-metabolic-syndrome-pathophysiology-and-laboratory-assessment
#16
Victoria Higgins, Khosrow Adeli
Pediatric overweight and obesity is an emerging public health priority as rates have rapidly increased worldwide. Obesity is often clustered with other metabolic abnormalities including hypertension, dyslipidemia, and insulin resistance, leading to increased risk of cardiovascular disease. This cluster of risk factors, termed the metabolic syndrome, has traditionally been reported in adults. However, with the increased prevalence of pediatric obesity, the metabolic syndrome is now evident in children and adolescents...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28439062/a-rare-case-of-necrotizing-myopathy-and-fibrinous-and-organizing-pneumonia-with-anti-ej-antisynthetase-syndrome-and-ssa-antibodies
#17
Muhammad Kashif, Divya Arya, Masooma Niazi, Misbahuddin Khaja
BACKGROUND Idiopathic inflammatory myopathies are autoimmune disorders that can involve the skin, joints, muscles, and lungs. The most common of these disorders are dermatomyositis, polymyositis, overlap syndrome, and inclusion body myositis. Necrotizing autoimmune myopathy is an idiopathic inflammatory myopathy that is rarely associated with Sjögren's syndrome. The most common lung findings associated with anti-EJ antisynthetase syndrome are nonspecific interstitial pneumonia and usual interstitial pneumonia; this condition is rarely associated with fibrinous and organizing pneumonia...
April 25, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28438749/respiratory-difficulty-with-palatal-laryngeal-and-respiratory-muscle-tremor-in-adult-onset-alexander-s-disease
#18
John McAuley, Rowena Taylor, Anita Simonds, Sanjiv Chawda
Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander's disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD)...
April 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438736/altered-microrna-expression-is-responsible-for-the-pro-osteogenic-phenotype-of-interstitial-cells-in-calcified-human-aortic-valves
#19
Rui Song, David A Fullerton, Lihua Ao, Ke-Seng Zhao, T Brett Reece, Joseph C Cleveland, Xianzhong Meng
BACKGROUND: The transition of aortic valve interstitial cells (AVICs) to myofibroblastic and osteoblast-like phenotypes plays a critical role in calcific aortic valve disease progression. Several microRNAs (miRs) are implicated in stem cell differentiation into osteoblast. We hypothesized that an epigenetic mechanism regulates valvular pro-osteogenic activity. This study examined miR profile in AVICs of calcified valves and identified miRs responsible for AVIC phenotypic transition. METHODS AND RESULTS: AVICs were isolated from normal and diseased valves...
April 24, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28437576/irisin-and-musculoskeletal-health
#20
Graziana Colaianni, Saverio Cinti, Silvia Colucci, Maria Grano
Irisin is a hormone-like myokine produced in abundance by skeletal muscle in response to exercise, both in mice and humans. Once released into the circulation, irisin acts on white adipocytes to induce the browning response and subsequently activates nonshivering thermogenesis. We have examined the premise that irisin produced during exercise may subserve further functions in the musculoskeletal system. We review evidence for its possible skeletal effects, including the central role that irisin plays in the control of bone mass, with positive effects on cortical mineral density and geometry in mice...
April 24, 2017: Annals of the New York Academy of Sciences
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