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https://www.readbyqxmd.com/read/28212530/transcriptome-analysis-reveals-non-identical-microrna-profiles-between-arterial-and-venous-plasma
#1
Wenjing Xu, Yuan Zhou, Guoheng Xu, Bin Geng, Qinghua Cui
Circulating microRNAs presented in venous plasma have been demonstrated as powerful biomarkers for the complex diseases like cancer. Nevertheless, those presented in arterial plasma remained largely unexplored. Here, using microarray technique, we compared microRNA expression profiles of the matched arterial and venous plasma samples from the same male rats. Though the microRNA profiles were largely similar, we identified 24 differentially expressed microRNAs, including 10 arterial highly expressed microRNAs and 14 venous highly expressed microRNAs...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#2
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#3
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210638/an-unusual-suspect-causing-hypoxemic-respiratory-failure
#4
Masooma Aqeel, Bjorn Batdorf, Horatiu Olteanu, Jayshil J Patel
Introduction: Antisynthetase syndrome (ASS) is characterized by the presence of anti-Jo-1 antibodies in conjunction with clinical findings of fever, polymyositis-dermatomyositis, and interstitial lung disease (ILD). Inflammatory myopathies carry a high risk of malignancy, but this association is less well outlined in ASS. We present the case of a patient with ASS who developed non-Hodgkin's lymphoma with acute hypoxemic respiratory failure. Case Presentation: A 44-year-old female with ASS presented with acute hypoxemic respiratory failure...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210319/physiology-of-respiratory-disturbances-in-muscular-dystrophies
#5
Antonella Lo Mauro, Andrea Aliverti
: Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The former is due to recurrent aspiration, the latter to progressive weakness of respiratory muscles and an increase in the load against which they must contract...
December 2016: Breathe
https://www.readbyqxmd.com/read/28207435/statin-associated-immune-mediated-myopathy-biology-and-clinical-implications
#6
Lisa Christopher-Stine, Pari Basharat
PURPOSE OF REVIEW: In the last 6 years, our understanding of statin-associated myopathy expanded to include not only a toxic myopathy with limited and reversible side-effects but also an autoimmune variety in which statins likely induce an autoimmune myopathy that is both associated with a specific autoantibody and responsive to immunosuppression and immune modulation. This review widens the reader's understanding of statin myopathy to include an autoimmune process. RECENT FINDINGS: Statin-associated immune-mediated myopathy provides an example of an environmental trigger (statins) directly implicated in an autoimmune disease associated with a genetic predisposition as well as potential risk factors including concomitant diseases and specific statins...
February 14, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28202912/inflammatory-myopathies-genetic-associations-with-ibm
#7
Jessica McHugh
No abstract text is available yet for this article.
February 9, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28202739/anti-hmgcr-autoantibodies-in-juvenile-idiopathic-inflammatory-myopathies-identify-a-rare-but-clinically-important-subset-of-patients
#8
Sarah L Tansley, Zoe E Betteridge, Stefania Simou, Thomas S Jacques, Clarissa Pilkington, Mark Wood, Kishore Warrier, Lucy R Wedderburn, Neil J McHugh
OBJECTIVE: We aimed to establish the prevalence and clinical associations of anti-HMG-CoA-reductase (anti-HMGCR) in a large UK cohort with juvenile myositis. METHODS: There were 381 patients investigated for anti-HMGCR using ELISA. RESULTS: Anti-HMGCR autoantibodies were detected in 4 patients (1%). These children had no or minimal rash and significant muscle disease. Muscle biopsies were considered distinctive, with widespread variation in fiber size, necrotic fibers, and chronic inflammatory cell infiltrates; all had prolonged elevation of creatine kinase and all ultimately received biologic therapies...
February 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28202702/congenital-myopathy-associated-with-the-triadin-knockout-syndrome
#9
Andrew G Engel, Keeley R Redhage, David J Tester, Michael J Ackerman, Duygu Selcen
OBJECTIVE: Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome. METHODS: We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle. RESULTS: A 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28201858/prominent-subcutaneous-oedema-as-a-masquerading-symptom-of-an-underlying-inflammatory-myopathy
#10
Anthea Anantharajah, Steve Vucic, Surjit Tarafdar, Roslyn Vongsuvanh, Nicholas Wilcken, Sanjay Swaminathan
The inflammatory myopathies are a group of immune-mediated inflammatory muscle disorders that typically present with marked proximal muscle weakness. We report four cases of inflammatory myopathies with marked subcutaneous oedema as their main complaint. Three of the four patients had normal or low levels of creatine kinase, an enzyme often markedly elevated in these disorders. Magnetic resonance imaging of the muscles, followed by a muscle biopsy were used to make a definitive diagnosis.
February 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28196853/impaired-cardiac-and-skeletal-muscle-bioenergetics-in-children-adolescents-and-young-adults-with-barth-syndrome
#11
Adil Bashir, Kathryn L Bohnert, Dominic N Reeds, Linda R Peterson, Adam J Bittel, Lisa de Las Fuentes, Christina A Pacak, Barry J Byrne, W Todd Cade
: Barth syndrome (BTHS) is an X-linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected controls and examine their relationships with cardiac function and exercise capacity. Children/adolescents and young adults with BTHS (n = 20) and children/adolescent and young adult control participants (n = 23, total n = 43) underwent (31)P magnetic resonance spectroscopy ((31)P-MRS) of the lower extremity (calf) and heart for estimation of skeletal muscle and cardiac bioenergetics...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28194324/cell-therapies-in-cardiomyopathy-current-status-of-clinical-trials
#12
REVIEW
Ming Hao, Richard Wang, Wen Wang
Because the human heart has limited potential for regeneration, the loss of cardiomyocytes during cardiac myopathy and ischaemic injury can result in heart failure and death. Stem cell therapy has emerged as a promising strategy for the treatment of dead myocardium, directly or indirectly, and seems to offer functional benefits to patients. The ideal candidate donor cell for myocardial reconstitution is a stem-like cell that can be easily obtained, has a robust proliferation capacity and a low risk of tumour formation and immune rejection, differentiates into functionally normal cardiomyocytes, and is suitable for minimally invasive clinical transplantation...
2017: Analytical Cellular Pathology (Amsterdam)
https://www.readbyqxmd.com/read/28190982/dermatomyositis-leading-to-necrotizing-vasculitis-a-perfect-response-to-applied-therapy
#13
Mahmood Akbaryan, Farideh Darabi, Zahra Soltani
Dermatomyositis is an idiopathic inflammatory myopathy that cause skin and muscle complications. The ethiology is not understood well yet. Released cytokines including interferon and interleukins are suggested to make inflammatory responses in the skin or muscle. Muscle weakness and skin lesions including heliotrope rash, shawl sign and Gottron's papules are the most common symptoms. A biopsy (muscle or skin) is always the most reliable method for diagnosis. Corticosteroids in association with immunosuppressive agents are used as standard treatment...
December 2016: International Journal of Biomedical Science: IJBS
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#14
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28188164/peritoneal-amyloidosis-with-myopathy-in-primary-systemic-al-amyloidosis
#15
Ali Al-Adhami, Kate Steiner, Spencer Ellis
No abstract text is available yet for this article.
February 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28187523/hyperckemia-and-myalgia-are-a-common-presentation-of-anoctamin-5-ano5-related-myopathy-in-french-patients
#16
Constantinos Papadopoulos, Pascal Laforêt, Juliette Nectoux, Tanya Stojkovic, Karim Wahbi, Robert-Yves Carlier, Pierre G Carlier, Sarah Leonard-Louis, France Leturcq, Norma Romero, Bruno Eymard, Anthony Behin
Introduction Patients with ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials/Methods Data from 38 in France with ANO5 mutations with and without muscle weakness on first examination were compared. Results Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase (CK) levels ranged from 200 to 40,000 U/L...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28185170/mechanisms-of-cardiomyocyte-proliferation-and-differentiation-in-development-and-regeneration
#17
REVIEW
Jessie Wettig Yester, Bernhard Kühn
PURPOSE OF REVIEW: Congenital heart disease is the most common birth defect and acquired heart disease is the leading cause of death in adults. Understanding the mechanisms that drive cardiomyocyte proliferation and differentiation has the potential to advance the understanding and potentially the treatment of different cardiac pathologies, ranging from myopathies and heart failure to myocardial infarction. This review focuses on studies aimed at elucidating signal transduction pathways and molecular mechanisms that promote proliferation, differentiation, and regeneration of differentiated heart muscle cells, cardiomyocytes...
February 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28183324/identification-of-taz-mutations-in-pediatric-patients-with-cardiomyopathy-by-targeted-next-generation-sequencing-in-a-chinese-cohort
#18
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28183315/pyruvate-kinase-m2-and-the-mitochondrial-atpase-inhibitory-factor-1-provide-novel-biomarkers-of-dermatomyositis-a-metabolic-link-to-oncogenesis
#19
Fulvio Santacatterina, María Sánchez-Aragó, Marc Catalán-García, Glòria Garrabou, Cristina Nuñez de Arenas, Josep M Grau, Francesc Cardellach, José M Cuezva
BACKGROUND: Metabolic alterations play a role in the development of inflammatory myopathies (IMs). Herein, we have investigated through a multiplex assay whether proteins of energy metabolism could provide biomarkers of IMs. METHODS: A cohort of thirty-two muscle biopsies and forty plasma samples comprising polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (sIBM) and control donors was interrogated with monoclonal antibodies against proteins of energy metabolism using reverse phase protein microarrays (RPPA)...
February 10, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28182842/the-establishment-of-tocopherol-reference-intervals-for-hungarian-adult-population-using-validated-hplc-method
#20
Gábor Veres, László Szpisjak, Attila Bajtai, Andrea Siska, Péter Klivényi, István Ilisz, Imre Földesi, László Vécsei, Dénes Zádori
Evidence suggests that decreased α-tocopherol (the most biologically active substance in the vitamin E group) level can cause neurological symptoms, most likely ataxia. The aim of the current study was to first provide reference intervals for serum tocopherols in the adult Hungarian population with appropriate sample size recruiting healthy control subjects and neurological patients suffering from conditions without symptoms of ataxia, myopathy or cognitive deficiency. A validated HPLC method applying a diode array detector and rac-tocol as internal standard was utilized for that purpose...
February 9, 2017: Biomedical Chromatography: BMC
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