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https://www.readbyqxmd.com/read/28453549/idiosyncratic-recognition-of-uug-uua-codons-by-modified-nucleoside-5-taurinomethyluridine-%C3%AF-m5u-present-at-wobble-position-in-anticodon-loop-of-trnaleu-a-molecular-modeling-approach
#1
Asmita S Kamble, Prayagraj M Fandilolu, Susmit B Sambhare, Kailas D Sonawane
Lack of naturally occurring modified nucleoside 5-taurinomethyluridine (τm5U) at the 'wobble' 34th position in tRNALeu causes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). The τm5U34 specifically recognizes UUG and UUA codons. Structural consequences of τm5U34 to read cognate codons have not been studied so far in detail at the atomic level. Hence, 50ns multiple molecular dynamics (MD) simulations of various anticodon stem loop (ASL) models of tRNALeu in presence and absence of τm5U34 along with UUG and UUA codons were performed to explore the dynamic behaviour of τm5U34 during codon recognition process...
2017: PloS One
https://www.readbyqxmd.com/read/28447208/squamous-cell-carcinoma-of-the-lung-associated-with-anti-jo1-antisynthetase-syndrome-a-case-report-and-review-of-the-literature
#2
REVIEW
G Boleto, J-M Perotin, J-P Eschard, J-H Salmon
Antisynthetase syndrome is a heterogeneous idiopathic inflammatory myopathy. Anti-Jo1 is the most common antibody found in this condition. Dermatomyositis is known to be associated with malignancy, but the association between antisynthetase syndrome and malignancy is not clearly established. We report a case of an association of squamous cell carcinoma of the lung and anti-Jo1 antisynthetase syndrome. A 67-year-old man presented with polyarthritis, muscle weakness of the pelvic girdle, "mechanic's hands," and weight loss...
April 26, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28446710/linear-ubiquitin-chains-enzymes-mechanisms-and-biology
#3
REVIEW
Katrin Rittinger, Fumiyo Ikeda
Ubiquitination is a versatile post-translational modification that regulates a multitude of cellular processes. Its versatility is based on the ability of ubiquitin to form multiple types of polyubiquitin chains, which are recognized by specific ubiquitin receptors to induce the required cellular response. Linear ubiquitin chains are linked through Met 1 and have been established as important players of inflammatory signalling and apoptotic cell death. These chains are generated by a ubiquitin E3 ligase complex called the linear ubiquitin chain assembly complex (LUBAC) that is thus far the only E3 ligase capable of forming linear ubiquitin chains...
April 2017: Open Biology
https://www.readbyqxmd.com/read/28445006/equine-atypical-myopathy-in-the-uk-epidemiological-characteristics-of-cases-reported-from-2011-to-2015-and-factors-associated-with-survival
#4
S González-Medina, J L Ireland, R J Piercy, J R Newton, D M Votion
BACKGROUND: Equine atypical myopathy (AM) is a toxic rhabdomyolysis associated with ingestion of hypoglycin A, derived typically in Europe, from Acer pseudoplatanus tree. Despite the wide distribution of this tree species in the UK, the number of cases reported annually varies, and there has been an apparent increase in prevalence in recent years. Although AM was first recognised in the UK, epidemiological studies have never been conducted focused solely on this country. OBJECTIVES: To describe the spatiotemporal distribution, presentation, treatment and outcome of AM cases reported in the UK...
April 26, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28443020/bgp-15-protects-against-oxaliplatin-induced-skeletal-myopathy-and-mitochondrial-reactive-oxygen-species-production-in-mice
#5
James C Sorensen, Aaron C Petersen, Cara A Timpani, Dean G Campelj, Jordan Cook, Adam J Trewin, Vanesa Stojanovska, Mathew Stewart, Alan Hayes, Emma Rybalka
Chemotherapy is a leading intervention against cancer. Albeit highly effective, chemotherapy has a multitude of deleterious side-effects including skeletal muscle wasting and fatigue, which considerably reduces patient quality of life and survivability. As such, a defense against chemotherapy-induced skeletal muscle dysfunction is required. Here we investigate the effects of oxaliplatin (OXA) treatment in mice on the skeletal muscle and mitochondria, and the capacity for the Poly ADP-ribose polymerase (PARP) inhibitor, BGP-15, to ameliorate any pathological side-effects induced by OXA...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28442646/clinico-pathological-findings-in-a-striped-dolphin-stenella-coeruleoalba-affected-by-rhabdomyolysis-and-myoglobinuric-nephrosis-capture-myopathy
#6
Federico Bonsembiante, Cinzia Centelleghe, Gabriele Rossi, Stefania Giglio, Elena Madeo, Maria Elena Gelain, Sandro Mazzariol
A striped dolphin (Stenella coeruleoalba) calf stranded alive because of a Salter-Harris fracture type 1 of a caudal vertebra and remained in a provisional rehabilitation facility for 3 days where the fracture stabilization was attempted, but he died the day after bandaging. Serum and urine samples were collected during hospitalization (days 1, 2 and 3 serum and day 2 urine). Serum analysis showed increased urea, alanine transaminase, aspartate transaminase, and serum amyloid A values, while creatinine was below the lower limit...
April 21, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28442482/a-bag3-coding-variant-in-mice-determines-susceptibility-to-ischemic-limb-muscle-myopathy-by-directing-autophagy
#7
Joseph M McClung, Timothy J McCord, Terence E Ryan, Cameron A Schmidt, Thomas D Green, Kevin W Southerland, Jessica L Reinardy, Sarah B Mueller, Talaignair N Venkatraman, Christopher D Lascola, Sehoon Keum, Douglas A Marchuk, Espen E Spangenburg, Ayotunde O Dokun, Brian H Annex, Christopher D Kontos
Background -Critical limb ischemia (CLI) is a manifestation of peripheral artery disease (PAD) that carries significant mortality and morbidity risk in humans, although its genetic determinants remain largely unknown. We previously discovered two overlapping quantitative trait loci (QTL) in mice, Lsq-1 and Civq-1, that affected limb muscle survival and stroke volume following femoral artery or middle cerebral artery ligation, respectively. Here we report that a Bag3 variant (Ile81Met) segregates with tissue protection from hindlimb ischemia (HLI)...
April 25, 2017: Circulation
https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#8
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
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
#9
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/28436997/truncating-mutations-on-myofibrillar-myopathies-causing-genes-as-prevalent-molecular-explanations-on-patients-with-dilated-cardiomyopathy
#10
Alexandre Janin, Karine N'Guyen, Gilbert Habib, Claire Dauphin, Valérie Chanavat, Patrice Bouvagnet, Romain Eschalier, Streichenberger Nathalie, Philippe Chevalier, Gilles Millat
Dilated Cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a NGS workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were detected on 63 unrelated DCM cases (28.4%). Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436720/efficacy-and-safety-of-statins-and-exercise-combination-therapy-compared-to-statin-monotherapy-in-patients-with-dyslipidaemia-a-systematic-review-and-meta-analysis
#11
Ya-Jun Gui, Cai-Xiu Liao, Qiong Liu, Yuan Guo, Tao Yang, Jing-Yuan Chen, Ya-Ting Wang, Jia-Hui Hu, Dan-Yan Xu
Background Statin treatment in association with physical exercise can substantially reduce mortality in dyslipidaemic individuals. However, the available data to compare the efficacy and safety of statins and exercise combination therapy with statin monotherapy are limited. Design Systematic review and meta-analysis. Methods We systematically searched PubMed, Embase and the Cochrane Library from database inception until December 2016. We included randomised and non-randomised studies that compared the efficacy and safety of statins and exercise combination therapy with statin monotherapy in patients with dyslipidaemia...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28436394/sarcomere-dysfunction-in-nemaline-myopathy
#12
Josine M de Winter, Coen A C Ottenheijm
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as well, severely affected patients are ventilator-dependent. The mechanisms underlying muscle weakness in NM are currently poorly understood...
April 19, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28435477/acrodermatitis-enteropathica-in-a-pair-of-twins
#13
Abdullatif Al Rashed, Mohja Al Shehri, Feroze Kaliyadan
BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation...
December 31, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28433475/targeted-population-screening-of-late-onset-pompe-disease-in-unspecified-myopathy-patients-for-korean-population
#14
Jung Hwan Lee, Jin-Hong Shin, Hyung Jun Park, Sook Za Kim, Young Mi Jeon, Hye Kyoung Kim, Dae-Seong Kim, Young-Chul Choi
We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had one or more signs out of five LOPD-like clinical findings (proximal weakness, axial weakness, lingual weakness, respiratory difficulty, idiopathic hyperCKemia). Acid alpha glucosidase activity was evaluated with dried blood spot and mixed leukocyte simultaneously...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28431094/incidence-of-broiler-breast-myopathies-at-2-different-ages-and-its-impact-on-selected-raw-meat-quality-parameters
#15
V A Kuttappan, C M Owens, C Coon, B M Hargis, M Vazquez-Añon
White striping (WS) and woody breast (WB) are 2 poultry meat quality defects that affect the acceptance of raw breast fillets as well as properties of cooked and further processed products. The present study was intended to evaluate the incidence of these conditions in broilers at different ages and to compare the properties of fillets with different degrees of WS and WB. For this study, 1,920 birds were processed, at 6 and 9 wk of age, in a standard commercial inline processing system. After chilling, carcasses were deboned and butterfly fillets were collected and weighed...
April 18, 2017: Poultry Science
https://www.readbyqxmd.com/read/28430993/a-multi-systemic-mitochondrial-disorder-due-to-a-dominant-p-y955h-disease-variant-in-dna-polymerase-gamma
#16
Triinu Siibak, Paula Clemente, Ana Bratic, Helene Bruhn, Timo E S Kauppila, Bertil Macao, Florian A Schober, Nicole Lesko, Rolf Wibom, Karin Naess, Inger Nennesmo, Anna Wedell, Bradley Peter, Christoph Freyer, Maria Falkenberg, Anna Wredenberg
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (mtDNA) integrity and maintenance. On a molecular level, depending on their location within the enzyme, mutations either lead to mtDNA depletion or the accumulation of multiple mtDNA deletions, and in some cases these molecular changes can be correlated to the clinical presentation...
April 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28427101/tanshinol-alleviates-osteoporosis-and-myopathy-in-glucocorticoid-treated-rats
#17
Guanghua Chen, Xinle Zhang, Han Lin, Guizhi Huang, Yahui Chen, Liao Cui
Tanshinol is a major water-soluble active component of Salvia miltiorrhiza. In this study, we aimed to investigate whether tanshinol has potential therapeutic effects against glucocorticoid-induced osteoporosis and glucocorticoid-induced myopathy. Ninety-six female Sprague-Dawley rats were randomly assigned to five groups: a control group, a model group, and three model groups treated with 25 or 50 mg/kg of tanshinol, or calcitriol. All model groups received prednisone acetate for 90 days to induce glucocorticoid-induced osteoporosis...
April 20, 2017: Planta Medica
https://www.readbyqxmd.com/read/28425181/effects-of-different-aerobic-exercise-frequencies-on%C3%A2-streptozotocin-nicotinamide-induced-type-2-diabetic-rats-continuous-versus-short-bouts-and-weekend-warrior-exercises
#18
Nuray Alaca, Serap Uslu, Guldal Gulec Suyen, Umit Ince, Mustafa Serteser, Hızır Kurtel
BACKGROUND: Exercise training is known to exert multiple beneficial effects on type 2 diabetes mellitus (T2DM). In this study, we aimed at exploring the effects of aerobic exercise frequencies on diabetic parameters, the histopathological structure of skeletal muscle, diabetic myopathy and mitochondrial enzyme activities in an experimental model of T2DM. METHODS: T2DM was induced by using nicotinamide (110 mg/kg) and streptozotocin (65 mg/kg) in Sprague Dawley rats (n: 35)...
April 20, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28424681/the-spontaneous-autoimmune-neuromyopathy-in-icosl-nod-mice-is-cd4-t-cell-and-interferon-%C3%AE-dependent
#19
Claire Briet, Gwladys Bourdenet, Ute C Rogner, Chantal Becourt, Isabelle Tardivel, Laurent Drouot, Christophe Arnoult, Jean-Claude do Rego, Nicolas Prevot, Charbel Massaad, Olivier Boyer, Christian Boitard
Abrogation of ICOS/ICOS ligand (ICOSL) costimulation prevents the onset of diabetes in the non-obese diabetic (NOD) mouse but, remarkably, yields to the development of a spontaneous autoimmune neuromyopathy. At the pathological level, ICOSL(-/-) NOD mice show stronger protection from insulitis than their ICOS(-/-) counterparts. Also, the ICOSL(-/-) NOD model carries a limited C57BL/6 region containing the Icosl nul mutation, but, in contrast to ICOS(-/-) NOD mice, no gene variant previously reported as associated to NOD diabetes...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28424545/efficacy-and-safety-of-alcohol-septal-ablation-in-patients-over-65-years-old-with-obstructive-hypertrophic-cardiomyopathy
#20
Laila Cheddadi, Olivier Lairez, Thibault Lhermusier, Francisco Campelo-Parada, Michel Galinier, Didier Carrié, Nicolas Boudou
BACKGROUND: The performance of alcohol septal ablation (ASA) in elderly symptomatic patients with drug-refractory obstructive hypertrophic cardiomyopathy is still to be confirmed. The objective of this study was to compare the efficacy and safety of ASA in patients under and over 65 years old. METHODS AND RESULTS: Fifty-one consecutive patients with obstructive hypertrophic cardio-myopathy who underwent ASA were retrospectively included and reviewed for in-hospital major acute cardiac events and follow-up...
2017: Clinical Interventions in Aging
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