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myopathy .muscle diseases

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https://www.readbyqxmd.com/read/28649515/higher-oxidative-stress-in-skeletal-muscle-of-mcardle-disease-patients
#1
Jan J Kaczor, Holly A Robertshaw, Mark A Tarnopolsky
McArdle disease (MCD) is an autosomal recessive condition resulting from skeletal muscle glycogen phosphorylase deficiency. The resultant block in glycogenolysis leads to an increased flux through the xanthine oxidase pathway (myogenic hyperuricemia) and could lead to an increase in oxidative stress. We examined markers of oxidative stress (8-isoprostane and protein carbonyls), NAD(P)H-oxidase, xanthine oxidase and antioxidant enzyme (superoxide dismutase, catalase and glutathione peroxidase) activity in skeletal muscle of MCD patients (N = 12) and controls (N = 12)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28647034/muscle-strength-and-control-characteristics-are-altered-by-peripheral-artery-disease
#2
Molly N Schieber, Ryan M Hasenkamp, Iraklis I Pipinos, Jason M Johanning, Nicholas Stergiou, Holly K DeSpiegelaere, Jung H Chien, Sara A Myers
OBJECTIVE: Peripheral artery disease (PAD), a common manifestation of atherosclerosis, is characterized by lower leg ischemia and myopathy in association with leg dysfunction. Patients with PAD have impaired gait from the first step they take with consistent defects in the movement around the ankle joint, especially in plantar flexion. Our goal was to develop muscle strength profiles to better understand the problems in motor control responsible for the walking impairment in patients with PAD...
July 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28645253/a-case-report-of-thoracolumbar-paraspinal-myopathy-as-the-cause-of-camptocormia-in-a-patient-with-atypical-parkinsonism
#3
Yoon Kim, Ahro Kim, Aryun Kim, Beomseok Jeon
BACKGROUND: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. However, based on myopathic changes observed in the paraspinal muscle biopsies of some PD patients with camptocormia, the attempt to attribute camptocormia to myopathy has continued...
June 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28641925/safety-pharmacokinetics-and-sialic-acid-production-after-oral-administration-of-n-acetylmannosamine-mannac-to-subjects-with-gne-myopathy
#4
Xin Xu, Amy Q Wang, Lea L Latham, Frank Celeste, Carla Ciccone, May Christine Malicdan, Barry Goldspiel, Pramod Terse, James Cradock, Nora Yang, Selwyn Yorke, John C McKew, William A Gahl, Marjan Huizing, Nuria Carrillo
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle glycoproteins likely contributes to the pathophysiology of this disease. N-acetyl-D-mannosamine (ManNAc), an uncharged monosaccharide and the first committed precursor in the sialic acid biosynthetic pathway, is a therapeutic candidate that prevents muscle weakness in the mouse model of GNE myopathy...
April 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28640448/overview-of-the-muscle-cytoskeleton
#5
Christine A Henderson, Christopher G Gomez, Stefanie M Novak, Lei Mi-Mi, Carol C Gregorio
Cardiac and skeletal striated muscles are intricately designed machines responsible for muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the complex cytoskeletal networks are critical for contractile activity. The sarcomere is comprised of precisely organized individual filament systems that include thin (actin), thick (myosin), titin, and nebulin. Connecting the sarcomere to other organelles (e.g., mitochondria and nucleus) and serving as the scaffold to maintain cellular integrity are the intermediate filaments...
June 18, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28637129/patient-reported-outcomes-in-gne-myopathy-incorporating-a-valid-assessment-of-physical-function-in-a-rare-disease
#6
Christina Slota, Margaret Bevans, Li Yang, Joseph Shrader, Galen Joe, Nuria Carrillo
BACKGROUND: The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS: This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments...
February 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28630410/investigating-the-life-expectancy-and-proteolytic-degradation-of-engineered-skeletal-muscle-biological-machines
#7
Caroline Cvetkovic, Meghan C Ferrall-Fairbanks, Eunkyung Ko, Lauren Grant, Hyunjoon Kong, Manu O Platt, Rashid Bashir
A combination of techniques from 3D printing, tissue engineering and biomaterials has yielded a new class of engineered biological robots that could be reliably controlled via applied signals. These machines are powered by a muscle strip composed of differentiated skeletal myofibers in a matrix of natural proteins, including fibrin, that provide physical support and cues to the cells as an engineered basement membrane. However, maintaining consistent results becomes challenging when sustaining a living system in vitro...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#8
Macarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G Laing, Conrad C Weihl, Phillipa J Lamont
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement...
May 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624186/gaa-deficiency-in-pompe-disease-is-alleviated-by-exon-inclusion-in-ipsc-derived-skeletal-muscle-cells
#9
Erik van der Wal, Atze J Bergsma, Tom J M van Gestel, Stijn L M In 't Groen, Holm Zaehres, Marcos J Araúzo-Bravo, Hans R Schöler, Ans T van der Ploeg, W W M Pim Pijnappel
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the most common variant for the childhood/adult disease form. We previously identified antisense oligonucleotides (AONs) that promoted GAA exon 2 inclusion in patient-derived fibroblasts. It was unknown how these AONs would affect GAA splicing in skeletal muscle cells...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#10
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28614007/ectopic-cushing-s-syndrome-a-ten-year-experience-from-a-tertiary-care-centre-in-southern-india
#11
Samantha Sathyakumar, Thomas Vizhalil Paul, Hesargatta Shyamsunder Asha, Birla Roy Gnanamuthu, M J Paul, Deepak Thomas Abraham, Simon Rajaratnam, Nihal Thomas
OBJECTIVE: Ectopic ACTH secretion is a less common cause of Cushing's syndrome, and is seen in 5 to 10% of cases with endogenous hypercortisolemia. We hereby describe our experience of patients with ectopic ACTH syndrome, who have been managed over the past 10 years at a tertiary care centre in Southern India. METHODS: The inpatient and outpatient records of patients from 2006 to 2015 were retrospectively reviewed. The clinical features, clinical history, biochemical values, imaging features which included radiological findings and PET scans, management, details of follow-up and outcomes were documented...
June 14, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28609139/evidence-and-role-of-phlebitis-and-lipid-infiltration-in-the-onset-and-pathogenesis-of-wooden-breast-disease-in-modern-broiler-chickens
#12
Michael Babak Papah, Erin Brannick, Carl J Schmidt, Behnam Abasht
Wooden Breast Disease (WBD), a myopathy that frequently affects modern broiler chickens, is a disorder that has been associated with significant economic losses in the poultry industry. To examine tissue changes associated with the onset and early pathogenesis of this disorder, a time-series experiment was conducted using chickens from a high-breast-muscle-yield, purebred commercial broiler line. Birds were raised for up to seven weeks, with a subset of birds sampled weekly. Breast muscle tissues were extracted at necropsy and processed for analysis by light microscopy and transmission electron microscopy...
June 13, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28606408/-common-therapeutic-approaches-of-sarcopenia-in-the-elderly-and-uremic-myopathy
#13
Philippe Chauveau, Karine Moreau, Catherine Lasseur, Christian Combe, Michel Aparicio
The gradual loss of weight and function of muscle in patients with chronic kidney disease as in the elderly impacts the quality of life. Early management should help slow the functional limitation. Physical activity is the first therapy to propose that ensures stability of muscle mass and improved function. Resistance training programs have proven effective but are not yet widely available in nephrology units. The nutritional management should not be forgotten because there is a resistance to anabolism and protein intake should be involved in physical activity program...
June 9, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28604469/case-report-of-cardiac-arrest-after-succinylcholine-in-a-child-with-muscle-eye-brain-disease
#14
Thomas Hackmann, David L Skidmore, Brian MacManus
Muscle-eye-brain disease is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and brain malformation. We report an intraoperative hyperkalemic cardiac arrest following the administration of succinylcholine in a child with muscle-eye-brain disease. The disease was diagnosed only after this event. Our experience suggests that preoperative determinations of serum concentrations of lactate and creatine kinase may be useful if clinical signs consistent with myopathy are present...
June 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28596791/in-utero-stem-cell-transplantation-potential-therapeutic-application-for-muscle-diseases
#15
REVIEW
Neeladri Chowdhury, Atsushi Asakura
Muscular dystrophies, myopathies, and traumatic muscle injury and loss encompass a large group of conditions that currently have no cure. Myoblast transplantations have been investigated as potential cures for these conditions for decades. However, current techniques lack the ability to generate cell numbers required to produce any therapeutic benefit. In utero stem cell transplantation into embryos has been studied for many years mainly in the context of hematopoietic cells and has shown to have experimental advantages and therapeutic applications...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28592916/a-reduction-in-selenoprotein-s-amplifies-the-inflammatory-profile-of-fast-twitch-skeletal-muscle-in-the-mdx-dystrophic-mouse
#16
Craig Robert Wright, Giselle Larissa Allsopp, Alex Bernard Addinsall, Natasha Lee McRae, Sofianos Andrikopoulos, Nicole Stupka
Excessive inflammation is a hallmark of muscle myopathies, including Duchenne muscular dystrophy (DMD). There is interest in characterising novel genes that regulate inflammation due to their potential to modify disease progression. Gene polymorphisms in Selenoprotein S (Seps1) are associated with elevated proinflammatory cytokines, and in vitro SEPS1 is protective against inflammatory stress. Given that SEPS1 is highly expressed in skeletal muscle, we investigated whether the genetic reduction of Seps1 exacerbated inflammation in the mdx mouse...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28589938/antisense-oligonucleotide-mediated-dnm2-knockdown-prevents-and-reverts-myotubular-myopathy-in-mice
#17
Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P Monia, Belinda S Cowling, Jocelyn Laporte
Centronuclear myopathies (CNM) are non-dystrophic muscle diseases for which no effective therapy is currently available. The most severe form, X-linked CNM, is caused by myotubularin 1 (MTM1) loss-of-function mutations, while the main autosomal dominant form is due to dynamin2 (DNM2) mutations. We previously showed that genetic reduction of DNM2 expression in Mtm1 knockout (Mtm1KO) mice prevents development of muscle pathology. Here we show that systemic delivery of Dnm2 antisense oligonucleotides (ASOs) into Mtm1KO mice efficiently reduces DNM2 protein level in muscle and prevents the myopathy from developing...
June 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28589751/modelling-disease-activity-in-juvenile-dermatomyositis-a-bayesian-approach
#18
Eh Pieter van Dijkhuizen, Claire T Deakin, Lucy R Wedderburn, Maria De Iorio
Juvenile dermatomyositis is the most common form of the juvenile idiopathic inflammatory myopathies characterised by muscle and skin inflammation, leading to symmetric proximal muscle weakness and cutaneous symptoms. It has a fluctuating course and varying prognosis. In a Bayesian framework, we develop a joint model for four longitudinal outcomes, which accounts for within individual variability as well as inter-individual variability. Correlations among the outcome variables are introduced through a subject-specific random effect...
January 1, 2017: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/28586844/skeletal-muscle-involvement-in-antisynthetase-syndrome
#19
Eri Noguchi, Akinori Uruha, Shigeaki Suzuki, Kohei Hamanaka, Yuko Ohnuki, Jun Tsugawa, Yurika Watanabe, Jin Nakahara, Takashi Shiina, Norihiro Suzuki, Ichizo Nishino
Importance: Antisynthetase syndrome, characterized by myositis, interstitial lung disease, skin rash, arthropathy, and Raynaud phenomenon, is a clinical entity based on the presence of aminoacyl transfer RNA synthetase (ARS) antibodies in patients' serum. However, antisynthetase syndrome is not included in the histological subsets of idiopathic inflammatory myopathies. Objective: To elucidate the clinical features of myositis in patients with antisynthetase syndrome...
June 5, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28586319/rev-erb-and-ror-therapeutic-targets-for-treating-myopathies
#20
REVIEW
Ryan D Welch, Colin A Flaveny
Muscle is primarily known for its mechanical roles in locomotion, maintenance of posture, and regulation of cardiac and respiratory function. There are numerous medical conditions that adversely affect muscle, myopathies that disrupt muscle development, regeneration and protein turnover to detrimental effect. Skeletal muscle is also a vital secretory organ that regulates thermogenesis, inflammatory signaling and directs context specific global metabolic changes in energy substrate preference on a daily basis...
June 6, 2017: Physical Biology
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