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Myopathies

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https://www.readbyqxmd.com/read/28533643/unsuspected-active-ulcerative-colitis-in-a-patient-with-dermatomyositis-a-rare-association-detected-on-18-f-fdg-pet-ct-during-the-search-for-an-occult-malignancy
#1
Sampanna Jung Rayamajhi, Arun Kumar Reddy Gorla, Rajender Kumar Basher, Ashwani Sood, Bhagwant Rai Mittal
Dermatomyositis is an inflammatory myopathy with the characteristic features of skin rash and myopathy. We here present a known case of dermatomyositis evaluated with (18)F-FDG PET/CT for the presence of any occult malignancy. The scan was negative for the presence of any malignancy. However, it revealed multiple intensely FDG avid colonic strictures that were later proven on colonoscopic biopsy to be ulcerative colitis. Also, a well-known association of bilateral sacroilitis was simultaneously demonstrated on the scan...
April 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28531774/clinical-assessment-underestimates-fat-mass-and-overestimates-resting-energy-expenditure-in-children-with-neuromuscular-diseases
#2
Salesa Barja, Regina Pérez
BACKGROUND: Nutritional problems are frequent among patients with neuromuscular diseases, who consequently need an adequate evaluation. OBJECTIVE: to describe nutritional assessment and to estimate and measure body composition and energy requirement in children with neuromuscular diseases. SUBJECTS AND METHODS: We performed anthropometry, skinfold measurement and bioelectric impedance analysis (BIA) for estimate and measure, respectively, fat mass (FM)...
October 2016: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28528672/physiology-and-pharmacology-of-ryanodine-receptor-calcium-release-channels
#3
Angela F Dulhunty, Philip G Board, Nicole A Beard, Marco G Casarotto
Ryanodine receptor (RyR) ion channels are essential for skeletal and cardiac muscle function. Their knockout leads to perinatal death from respiratory and cardiac failure. Acquired changes or mutations in the protein cause debilitating skeletal myopathy and cardiac arrhythmia which can be deadly. Knowledge of the pharmacology of RyR channels is central to developing effective and specific treatments of these myopathies. The ion channel is a >2.2MDa homotetamer with distinct structural and functional characteristics giving rise to a myriad of regulatory sites that are potential therapeutic targets...
2017: Advances in Pharmacology
https://www.readbyqxmd.com/read/28528595/implications-of-white-striping-and-spaghetti-meat-abnormalities-on-meat-quality-and-histological-features-in-broilers
#4
G Baldi, F Soglia, M Mazzoni, F Sirri, L Canonico, E Babini, L Laghi, C Cavani, M Petracci
During the past few years, there has been an increasing prevalence of broiler breast muscle abnormalities, such as white striping (WS) and wooden breast conditions. More recently, a new muscular abnormality termed as spaghetti meat (SM) because of the altered structural integrity of the Pectoralis major muscle often associated with WS has emerged. Thus, this study aimed at evaluating the effects of WS and SM conditions, occurring alone or combined within the same P. major muscle, on meat quality traits and muscle histology...
May 22, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28526123/-direct-mechanism-of-action-in-toxic-myopathies
#5
REVIEW
A Khelfi, M Azzouz, R Abtroun, M Reggabi, B Alamir
Toxic myopathies are a large group of disorders generated by surrounding agents and characterized by structural and/or functional disturbances of muscles. The most recurrent are those induced by commonly used medications. Illicit drugs, environmental toxins from animals, vegetables, or produced by micro-organisms as well as chemical products commonly used are significant causes of such disorders. The muscle toxicity results from multiple mechanisms at different biological levels. Many agents can induce myotoxicity through a direct mechanism in which statins, glucocorticoids and ethyl alcohol are the most representative...
May 16, 2017: Annales Pharmaceutiques Françaises
https://www.readbyqxmd.com/read/28524083/idiopathic-inflammatory-myopathies-a-review-of-the-classification-and-impact-of-pathogenesis
#6
REVIEW
Dana E Mandel, Charles J Malemud, Ali D Askari
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune muscle diseases with significant morbidity and mortality. This review details and updates the pathogenesis and emerging importance of myositis-specific antibodies in the development of IIMs. An increase in the understanding of how these myositis-specific antibodies play a role in IIMs has led to the further categorization of IIMs from the traditional polymyositis versus dermatomyositis, to additional subcategories of IIMs such as necrotizing autoimmune myositis (NAM)...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28523323/discovery-of-a-new-mutation-in-the-desmin-gene-in-a-young-patient-with-cardiomyopathy-and-muscular-weakness
#7
Ruxandra Oana JurcuŢ, Alexandra Eugenia Bastian, Sebastian Militaru, Aura Popa, Emilia Manole, Bogdan Alexandru Popescu, Jonna Tallila, Bogdan Ovidiu Popescu, Carmen Doina Ginghină
A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523201/sarcoidosis-is-it-a-possible-trigger-of-inclusion-body-myositis
#8
Ali Zakaria, Issam Turk, Kenneth Leung, Ana Capatina-Rata, Waseem Farra
Sarcoidosis is a multisystem disorder of unknown etiology, characterized pathologically by the presence of nonnecrotizing granulomatous inflammation in affected organs. Although skeletal muscle is involved in 50-80 percent of individuals with sarcoidosis, symptomatic myopathy has been shown to be a rare manifestation of the disease. Inclusion body myositis (IBM) is a rare acquired idiopathic inflammatory myopathy with the insidious onset of asymmetric and distal muscle weakness that characteristically involves the quadriceps, tibialis anterior, and forearm flexors...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28521021/satellite-cell-mediated-breast-muscle-regeneration-decreases-with-broiler-size
#9
M R Daughtry, E Berio, Z Shen, E J R Suess, N Shah, A E Geiger, E R Berguson, R A Dalloul, M E Persia, H Shi, D E Gerrard
Satellite cells (SCs) reside between the sarcolemma and basal lamina of muscle fibers and are the primary contributor of DNA for post-hatch muscle growth and repair. Alterations in SC content or properties by intrinsic and extrinsic factors can have detrimental effects on muscle health and function, and ultimately meat quality. We hypothesized that disrupted SC homeostasis may account in part for the increased breast myopathies observed in growing broilers. To test this hypothesis, we selected broilers with different body weights at comparable ages and studied SC characteristics in vitro and in vivo...
May 17, 2017: Poultry Science
https://www.readbyqxmd.com/read/28516888/one-biopsy-two-diagnoses-statin-induced-autoimmune-myopathy-in-combination-with-extranodal-marginal-zone-lymphoma
#10
Stijn Michiels, Daan Dierickx, Veerle Taelman, Thomas Tousseyn, Jan Lenaerts, Ellen De Langhe
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May 17, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#11
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28515189/10-year-trends-in-statin-utilization-in-taiwan-a-retrospective-study-using-taiwan-s-national-health-insurance-research-database
#12
Hsing-Chun Hsieh, Jason C Hsu, Christine Y Lu
OBJECTIVE: Statins have been commonly used to treat patients with hypercholesterolaemia and to prevent cardiovascular disease (CVD) worldwide. This study examined trends in use of statins in Taiwan from 2002 to 2011. DESIGN: This is a retrospective observational study focusing on the utilisation of statins. SETTING: The monthly claims data for statins between 2002 and 2011 were retrieved from Taiwan's National Health Insurance Research Database...
May 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28513458/cofilin-a-protein-controlling-dynamics-of-actin-filaments
#13
Zofia Ostrowska, Joanna Moraczewska
Cofilins are evolutionary conserved proteins present in all Eukaryotic cells. Their primary function is dynamic reorganization of actin cytoskeleton. Two cofilin isoforms are known: cofilin 1, present in all studied non-muscle cells and in embryonic muscle cells, and cofilin 2, which dominates in mature skeletal and cardiac muscles. Polypeptide chains of both isoforms fold into a structure homological to a conservative ADF (actin depolymerizing factor) domain, which is characteristic of actin depolymerizing factor...
May 5, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28513170/a-phospholipid-biomimetic-fluorescent-mitochondrial-probe-with-ultrahigh-selectivity-enables-in-situ-and-high-fidelity-tissue-imaging
#14
Ruoyao Zhang, Yuming Sun, Minggang Tian, Ge Zhang, Ruiqing Feng, Xuechen Li, Lifang Guo, Xiaoqiang Yu, Jing Zhi Sun, Xiuquan He
In-situ and directly imaging mitochondria in tissues instead of isolated cells can offer more native and accurate information. Particularly, in the clinical diagnose of mitochondrial diseases such as mitochondrial myopathy, it is a routine examination item to directly observe mitochondrial morphology and number in muscle tissues from patients. However, it's still a challenging task because the selectivity of available probes is inadequate for exclusively tissue imaging. Inspired by the chemical structure of amphiphilic phospholipids in mitochondrial inner membrane, we synthesized a phospholipid-biomimetic amphiphilic fluorescent probe (Mito-MOI) by modifying a C18-alkyl chain to the lipophilic side of carbazole-indolenine cation...
May 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28512504/a-case-report-of-drug-induced-myopathy-involving-extraocular-muscles-after-combination-therapy-with-tremelimumab-and-durvalumab-for-non-small-cell-lung-cancer
#15
William Carrera, Brandon J Baartman, Gregory Kosmorsky
Recently developed anti-tumour therapies targeting immune checkpoints include tremelimumab and durvalumab. These agents have incompletely characterised side effect profiles. The authors report a 68-year-old man treated for non-small cell lung cancer (NSCLC) with a combination of tremelimumab and durvalumab. After treatment he developed diplopia, ptosis, fatigue, weakness, and an inflammatory myopathy affecting the extraocular muscles requiring hospitalisation. Electromyography (EMG) testing and muscle biopsy suggested inflammatory myopathy without sign of myasthenia...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28512218/ubiquitin-and-atp-dependent-unfoldase-activity-of-p97-vcp%C3%A2-nploc4%C3%A2-ufd1l-is-enhanced-by-a-mutation-that-causes-multisystem-proteinopathy
#16
Emily E Blythe, Kristine C Olson, Vincent Chau, Raymond J Deshaies
p97 is a "segregase" that plays a key role in numerous ubiquitin (Ub)-dependent pathways such as ER-associated degradation. It has been hypothesized that p97 extracts proteins from membranes or macromolecular complexes to enable their proteasomal degradation; however, the complex nature of p97 substrates has made it difficult to directly observe the fundamental basis for this activity. To address this issue, we developed a soluble p97 substrate-Ub-GFP modified with K48-linked ubiquitin chains-for in vitro p97 activity assays...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#17
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28511632/mislabeling-of-study-design-and-overstatement-of-findings-in-rechallenging-statin-therapy-in-veterans-with-statin-induced-myopathy-post-vitamin-d-replenishment
#18
https://www.readbyqxmd.com/read/28508608/myopathy-in-pediatric-thyroid-states-a-review-of-the-literature
#19
Elena Dingle, Resmy Palliyil-Gopi, Maria Contreras, Brenda Kohn, Preneet Cheema Brar
This review highlights the presentations of myopathy in children in both hypothyroid and hyperthyroid states with an emphasis on the pathophysiology, diagnosis and treatment. Based on our review of the literature data, myopathy should be considered in all children presenting with muscular weakness or altered muscle enzymes in the context of thyroid disease.
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28506086/invasive-cardiopulmonary-exercise-testing-in-the-evaluation-of-unexplained-dyspnea-insights-from-a-multidisciplinary-dyspnea-center
#20
Wei Huang, Stephen Resch, Rudolf Kf Oliveira, Barbara A Cockrill, David M Systrom, Aaron B Waxman
Background Unexplained dyspnea is a common diagnosis that often results in repeated diagnostic testing and even delayed treatments while a determination of the cause is being investigated. Through a retrospective study, we evaluated the diagnostic efficacy of a multidisciplinary dyspnea evaluation center (MDEC) using invasive cardiopulmonary exercise test to diagnose potential causes of unexplained dyspnea. Methods We reviewed the medical records of all patients referred with unexplained dyspnea to the MDEC between March 2011 and October 2014...
January 1, 2017: European Journal of Preventive Cardiology
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