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Muscle Disease

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https://www.readbyqxmd.com/read/28641314/no-additional-prognostic-value-for-mre11-in-squamous-cell-carcinomas-of-the-anus-treated-with-chemo-radiotherapy
#1
Alexandra K Walker, Christiana Kartsonaki, Elena Collantes, Judith Nicholson, Duncan C Gilbert, Anne E Kiltie
BACKGROUND: The majority of anal cancers (84-95%) are driven by infection with human papillomavirus (HPV). HPV-positive tumours show significantly better responses to chemo-radiotherapy when compared with HPV-negative tumours. HPV infection is linked to alterations in DNA damage response proteins, including MRE11. MRE11 is a potential predictive biomarker for response to radiotherapy in muscle-invasive bladder cancer and may hold predictive power in other cancers. METHODS: Using a previously reported cohort, we evaluated the levels of MRE11 in anal cancer and assessed its predictive value in this disease...
June 22, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28641283/-healing-of-amyotrophic-lateral-sclerosis-a-case-report
#2
Inge Mangelsdorf, Harald Walach, Joachim Mutter
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease leading to death within 3-5 years in most cases. New approaches to treating this disease are needed. Here, we report a successful therapy. CASE REPORT: In a 49-year-old male patient suffering from muscle weakness and fasciculations, progressive muscular atrophy, a variant of ALS, was diagnosed after extensive examinations ruling out other diseases. Due to supposed mercury exposure from residual amalgam, the patient's teeth were restored...
June 12, 2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28641044/the-effects-of-short-versus-long-inter-set-rest-intervals-in-resistance-training-on-measures-of-muscle-hypertrophy-a-systematic-review
#3
Jozo Grgic, Bruno Lazinica, Pavle Mikulic, James W Krieger, Brad Jon Schoenfeld
Although the effects of short versus long inter-set rest intervals in resistance training on measures of muscle hypertrophy have been investigated in several studies, the findings are equivocal and the practical implications remain unclear. In an attempt to provide clarity on the topic, we performed a systematic literature search of PubMed/MEDLINE, Scopus, Web of Science, Cochrane Library, and Physiotherapy Evidence Database (PEDro) electronic databases. Six studies were found to have met the inclusion criteria: (a) an experimental trial published in an English-language peer-reviewed journal; (b) the study compared the use of short (≤60 s) to long (>60 s) inter-set rest intervals in a traditional dynamic resistance exercise using both concentric and eccentric muscle actions, with the only difference in resistance training among groups being the inter-set rest interval duration; (c) at least one method of measuring changes in muscle mass was used in the study; (d) the study lasted for a minimum of four weeks, employed a training frequency of ≥2 resistance training days per week, and (e) used human participants without known chronic disease or injury...
June 22, 2017: European Journal of Sport Science
https://www.readbyqxmd.com/read/28637335/astrocyte-produced-mir-146a-as-a-mediator-of-motor-neuron-loss-in-spinal-muscular-atrophy
#4
Samantha L Sison, Teresa N Patitucci, Emily R Seminary, Eric Villalon, Christian L Lorson, Allison D Ebert
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is caused by loss of the survival motor neuron-1 (SMN1) gene, which leads to motor neuron loss, muscle atrophy, respiratory distress, and death. Motor neurons exhibit the most profound loss, but the mechanisms underlying disease pathogenesis are not fully understood. Recent evidence suggests that motor neuron extrinsic influences, such as those arising from astrocytes, contribute to motor neuron malfunction and loss. Here we investigated both loss-of-function and toxic gain-of-function astrocyte mechanisms that could play a role in SMA pathology...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28637233/identification-of-exosomal-muscle-specific-mirnas-in-serum-of-myotonic-dystrophy-patients-relating-to-muscle-disease-progress
#5
Andrie Koutsoulidou, Marinos Photiades, Tassos C Kyriakides, Kristia Georgiou, Marianna Prokopi, Konstantinos Kapnisis, Anna Lusakowska, Marianna Nearchou, Yiolanda Christou, George K Papadimas, Andreas Anayiotos, Kyriakos Kyriakou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A Phylactou
Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, which is characterised by progressive muscle wasting and the discovery of reliable blood-based biomarkers could be useful for the disease progress monitoring. There have been some reports showing that the presence of specific miRNAs in blood correlate with DM1. In one of these, our group identified four muscle-specific miRNAs, miR-1, miR-133a, miR-133b and miR-206, which correlated with the progression of muscle wasting observed in DM1 patients...
June 16, 2017: Human Molecular Genetics
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/28637074/-nutrition-in-cancer-effective-in-prevention-and-treatment
#7
Jann Arends
Nutritional effects on cancer occurrence and on treatment outcome in cancer patients may depend on food preferences and on the quantity of foods supplied. However, it has been difficult to reliably show beneficial effects of specific dietary concepts on cancer incidence. On the other hand, obesity as a result of chronic overfeeding has been linked firmly to an increased risk of a number of cancers as well as on cancer recurrence after treatment. Metabolic consequences of obesity and other components of the metabolic syndrome may be responsible for inducing and/or promoting cancer growth and should be antagonized by regular moderate physical activity in healthy subjects and in cancer survivors...
June 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28636505/the-effect-of-aerobic-interval-training-and-continuous-training-on-exercise-capacity-and-its-determinants
#8
Nele Pattyn, Paul J Beckers, Véronique A Cornelissen, Ellen Coeckelberghs, Catherine De Maeyer, Geert Frederix, Kaatje Goetschalckx, Nadine Possemiers, Dirk Schepers, Emeline M Van Craenenbroeck, Kurt Wuyts, Viviane M Conraads, Luc Vanhees
Objective We aimed to investigate (1) the effects of aerobic interval training (AIT) and aerobic continuous training (ACT) on (sub)maximal exercise measures and its determinants including endothelial function, muscle strength and cardiac autonomic function, and (2) the relationship between exercise capacity and these determinants. Methods Two-hundred coronary artery disease (CAD) patients (58.4 ± 9.1 years) were randomized to AIT or ACT for 12 weeks. All patients performed a cardiopulmonary exercise test and endothelial function measurements before and after the intervention; a subpopulation underwent muscle strength and heart rate variability (HRV) assessments...
March 21, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#9
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635632/glucose-and-lipid-dysmetabolism-in-a-rat-model-of-prediabetes-induced-by-a-high-sucrose-diet
#10
Ana Burgeiro, Manuela G Cerqueira, Bárbara M Varela-Rodríguez, Sara Nunes, Paula Neto, Frederico C Pereira, Flávio Reis, Eugénia Carvalho
Glucotoxicity and lipotoxicity are key features of type 2 diabetes mellitus, but their molecular nature during the early stages of the disease remains to be elucidated. We aimed to characterize glucose and lipid metabolism in insulin-target organs (liver, skeletal muscle, and white adipose tissue) in a rat model treated with a high-sucrose (HSu) diet. Two groups of 16-week-old male Wistar rats underwent a 9-week protocol: HSu diet (n = 10)-received 35% of sucrose in drinking water; Control (n = 12)-received vehicle (water)...
June 21, 2017: Nutrients
https://www.readbyqxmd.com/read/28635626/adiponectin-a-therapeutic-target-for-obesity-diabetes-and-endothelial-dysfunction
#11
REVIEW
Arunkumar E Achari, Sushil K Jain
Adiponectin is the most abundant peptide secreted by adipocytes, whose reduction plays a central role in obesity-related diseases, including insulin resistance/type 2 diabetes and cardiovascular disease. In addition to adipocytes, other cell types, such as skeletal and cardiac myocytes and endothelial cells, can also produce this adipocytokine. Adiponectin effects are mediated by adiponectin receptors, which occur as two isoforms (AdipoR1 and AdipoR2). Adiponectin has direct actions in liver, skeletal muscle, and the vasculature...
June 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28635482/diagnosis-and-management-of-myasthenia-gravis
#12
Christopher Barber
Myasthenia gravis is a rare long-term neurological condition that is characterised by fluctuating skeletal muscle weakness and fatigue, as well as respiratory difficulties. It is both an acquired autoimmune disease and a chronic neuromuscular disorder. Because of its rarity, myasthenia gravis is relatively unknown and may be unfamiliar to many nurses. While there are various types of myasthenia, this article focuses on myasthenia gravis, exploring its symptoms, diagnosis and treatment, and examining the nurse's role in managing the condition...
June 21, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28635361/role-of-licochalcone-a-in-vegf-induced-proliferation-of-human-airway-smooth-muscle-cells-implications-for-asthma
#13
Sung-Ho Kim, Qing-Mei Pei, Ping Jiang, Min Yang, Xue-Jiao Qian, Jiang-Bo Liu
Asthma is a chronic respiratory disease characterized by reversible airway obstruction with persistent airway inflammation and airway remodeling, which is associated with increased airway smooth muscle (ASM) mass. Licochalcone A is the predominant characteristic chalcone in licorice root. We found that licochalcone A inhibited vascular endothelial growth factor (VEGF)-induced ASM cell proliferation and induced cell cycle arrest. Additionally, VEGF-induced ASM cell proliferation was suppressed via inhibition of extracellular signal-regulated kinase 1/2 (ERK1/2) activity, but not that of Akt...
February 2017: Growth Factors
https://www.readbyqxmd.com/read/28635190/characteristics-of-structured-physical-training-currently-provided-in-cardiac-patients-insights-from-the-exercise-training-in-cardiac-rehabilitation-etcr-italian-survey
#14
Marco Ambrosetti, Patrick Doherty, Pompilio Faggiano, Ugo Corrà, Carlo Vigorito, Dominique Hansen, Patrizio Sarto, Ana Abreu, Roberto F E Pedretti
BACKGROUND:   Uncertainty exists about current delivery levels of exercise training (ET) during Cardiac Rehabilitation (CR) programmes. AIM OF THE STUDY: To evaluate ET modalities in the real world of CR facilities in Italy. METHODS: This was an observational survey of aggregate data, collected from CR facilities on a voluntary basis. Snapshots of a single working day at a local site were made, in terms of characteristics of patients and ET programmes delivered...
May 18, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/28634657/longitudinal-perceptions-of-the-side-effects-of-chemotherapy-in-patients-with-gynecological-cancer
#15
Hui-Chun Hsu, Su-Yu Tsai, Shang-Liang Wu, Shiow-Roug Jeang, Mei-Yao Ho, Wen-Shiung Liou, An-Jen Chiang, Tsung-Hsien Chang
PURPOSE: This study aimed to assess the incidence and difference of side effects among six courses of chemotherapy (C/T) in gynecological cancer patients. METHODS: The study period was from Sep. 2010 to Dec. 2011 at the Kaohsiung Veterans General Hospital in Taiwan. The treating protocols, courses, and drugs of C/T in patient were considered according to the different malignant cancers and clinical conditions. The patient data of age, marriage status, education, religion, and experiences of C/T were collected...
June 21, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28634552/inherited-paediatric-motor-neuron-disorders-beyond-spinal-muscular-atrophy
#16
REVIEW
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28634514/cystic-lesions-of-peripheral-nerves-are-we-missing-the-diagnosis-of-the-intraneural-ganglion-cyst
#17
Jyoti Panwar, Anil Mathew, Binu P Thomas
AIM: To highlight the salient magnetic resonance imaging (MRI) features of the intraneural ganglion cyst (INGC) of various peripheral nerves for their precise diagnosis and to differentiate them from other intra and extra-neural cystic lesions. METHODS: A retrospective analysis of the magnetic resonance (MR) images of a cohort of 245 patients presenting with nerve palsy involving different peripheral nerves was done. MR images were analyzed for the presence of a nerve lesion, and if found, it was further characterized as solid or cystic...
May 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28634270/making-muscle-skeletal-myogenesis-in-vivo-and-in-vitro
#18
REVIEW
Jérome Chal, Olivier Pourquié
Skeletal muscle is the largest tissue in the body and loss of its function or its regenerative properties results in debilitating musculoskeletal disorders. Understanding the mechanisms that drive skeletal muscle formation will not only help to unravel the molecular basis of skeletal muscle diseases, but also provide a roadmap for recapitulating skeletal myogenesis in vitro from pluripotent stem cells (PSCs). PSCs have become an important tool for probing developmental questions, while differentiated cell types allow the development of novel therapeutic strategies...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28634267/30-years-of-the-mineralocorticoid-receptor-the-role-of-the-mineralocorticoid-receptor-in-the-vasculature
#19
REVIEW
Jennifer J DuPont, Iris Z Jaffe
Since the mineralocorticoid receptor (MR) was cloned 30 years ago, it has become clear that MR is expressed in extra-renal tissues, including the cardiovascular system, where it is expressed in all cells of the vasculature. Understanding the role of MR in the vasculature has been of particular interest as clinical trials show that MR antagonism improves cardiovascular outcomes out of proportion to changes in blood pressure. The last 30 years of research have demonstrated that MR is a functional hormone-activated transcription factor in vascular smooth muscle cells and endothelial cells...
July 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28633901/patient-ethnicity-and-causative-species-determine-the-manifestations-of-anti-interferon-gamma-autoantibody-associated-nontuberculous-mycobacterial-disease-a-review
#20
REVIEW
Isano Hase, Kozo Morimoto, Takuro Sakagami, Yoshiki Ishii, Jakko van Ingen
Nontuberculous mycobacteria (NTM) infections involving anti-interferon-gamma (IFN-γ)-neutralizing autoantibodies have been described in previously immunocompetent adults. To investigate the factors underlying various disease manifestations, we reviewed 35 articles published between January 2004 and November 2016 and identified 111 NTM patients with anti-IFN-γ autoantibodies. Rapidly growing mycobacteria (RGM) accounted for 53% of the isolated species. RGM were predominant among the NTM species isolated from Thai (73%), Chinese (58%) and Filipino (56%) patients, whereas M...
May 18, 2017: Diagnostic Microbiology and Infectious Disease
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