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Focal Muscular Atrophies

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Loss of melusin is a novel, neuronal NO synthase/FoxO3-independent master switch of unloading-induced muscle atrophy.

Maurizio Vitadello, Matteo Sorge, Elena Percivalle, Elena Germinario, Daniela Danieli-Betto, Emilia Turco, Guido Tarone, Mara Brancaccio, Luisa Gorza,

BACKGROUND:Unloading/disuse induces skeletal muscle atrophy in bedridden patients and aged people, who cannot prevent it by means of exercise. Because interventions against known atrophy initiators, such as oxidative stress and neuronal NO synthase (nNOS) redistribution, are only partially effective, we investigated the involvement of melusin, a muscle-specific integrin-associated protein and ... Read more >>

J Cachexia Sarcopenia Muscle (Journal of cachexia, sarcopenia and muscle)
[2020, :]

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[Antisynthetase myopathy].

Shigeaki Suzuki,

Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve skeletal muscle as well as many other organs. The classification of inflammatory myopathies has been based on clinical diagnoses, pathological diagnoses, and autoantibodies, independently. Antisynthetase syndrome, characterized by myositis, interstitial lung disease, skin rash, arthropathy, and Raynaud phenomenon, is ... Read more >>

Rinsho Shinkeigaku (Rinsho shinkeigaku = Clinical neurology)
[2020, 60(3):175-180]

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Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy.

T Ayaki, K Murata, N Kanazawa, A Uruha, K Ohmura, K Sugie, S Kasagi, F Li, M Mori, R Nakajima, T Sasai, I Nishino, U Satoshi, U Makoto, F Fukumi, H Ito, R Takahashi,

AIMS:Nakajo-Nishimura syndrome (NNS) is an autosomal recessive disease caused by biallelic mutations in the PSMB8 gene that encodes the immunoproteasome subunit β5i. There have been only a limited number of reports on the clinicopathological features of the disease in genetically confirmed cases. METHODS:We studied clinical and pathological features of three ... Read more >>

Neuropathol. Appl. Neurobiol. (Neuropathology and applied neurobiology)
[2020, :]

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TLR expression in peripheral monocyte subsets of patients with idiopathic inflammatory myopathies: association with clinical and immunological features.

Jiram Torres-Ruiz, Daniel Alberto Carrillo-Vazquez, Diana Marcela Padilla-Ortiz, Ricardo Vazquez-Rodriguez, Carlos Nuñez-Alvarez, Guillermo Juarez-Vega, Diana Gomez-Martin,

BACKGROUND:Monocytes and toll-like receptors (TLR) have been found in the inflammatory infiltrate of muscle biopsies in patients with idiopathic inflammatory myopathies (IIM), suggesting an important role of these cells in the pathogenesis of myositis. The monocyte subsets, their TLR expression in peripheral blood and their relationship with the clinical characteristics ... Read more >>

J Transl Med (Journal of translational medicine)
[2020, 18(1):125]

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Granulomatous Myositis Associated with Extremely Elevated Anti-striated Muscle Antibodies in the Absence of Myasthenia Gravis.

Sreenath Meegada, Hamza Akbar, Suman Siddamreddy, David Casement, Rajanshu Verma,

Granulomatous myositis is a rare disease that predominantly results in proximal muscle weakness in the upper and/or lower extremities. As it can resemble other inflammatory myopathies, it is important to obtain a muscle biopsy to make the underlying diagnosis. We report the first case of granulomatous myositis associated with extremely ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6981]

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Mechanical ventilation weaning issues can be counted on the fingers of just one hand: part 2.

Luigi Vetrugno, Alessandro Brussa, Giovanni Maria Guadagnin, Daniele Orso, Francesco De Lorenzo, Gianmaria Cammarota, Erminio Santangelo, Tiziana Bove,

Assessing heart and diaphragm function constitutes only one of the steps to consider along the weaning path. In this second part of the review, we will deal with the more systematic evaluation of the pulmonary parenchyma-often implicated in the genesis of respiratory failure. We will also consider the other possible ... Read more >>

Ultrasound J (The ultrasound journal)
[2020, 12(1):15]

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Editorial: Pathophysiologic Insights From Biomarker Studies in Neurological Disorders.

Stefan Bittner, Marcello Moccia, Tobias Warnecke, Tobias Ruck,

Front Neurol (Frontiers in Neurology)
[2020, 11:151]

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Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy.

Harold J Farber, William A Phillips, Kenneth L Kocab, Darrell S Hanson, John A Heydemann, Benny T Dahl, Elizabeth T Spoede, Larry S Jefferson,

BACKGROUND:Scoliosis is a common complication of severe neuromuscular diseases. The aim of this study is to determine the impact of posterior spinal fusion on pulmonary function parameters in patients with severe neuromuscular disease at our medical center. METHODS:Retrospective chart review of all patients with severe neuromuscular disease who had posterior ... Read more >>

Pediatr. Pulmonol. (Pediatric pulmonology)
[2020, 55(4):1037-1042]

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Modeling the Impact of Microgravity at the Cellular Level: Implications for Human Disease.

Peta Bradbury, Hanjie Wu, Jung Un Choi, Alan E Rowan, Hongyu Zhang, Kate Poole, Jan Lauko, Joshua Chou,

A lack of gravity experienced during space flight has been shown to have profound effects on human physiology including muscle atrophy, reductions in bone density and immune function, and endocrine disorders. At present, these physiological changes present major obstacles to long-term space missions. What is not clear is which pathophysiological ... Read more >>

Front Cell Dev Biol (Frontiers in cell and developmental biology)
[2020, 8:96]

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Myositis Specific Autoantibodies: A Clinical Perspective.

Fahidah M Alenzi,

Dermatomyositis (DM) is an idiopathic inflammatory condition characterized by myositis and variable skin manifestation. The existence of myositis specific autoantibodies usually manifests with varying degrees of skin or muscle inflammations. The condition has a well-established association with most clinical phenotypes, and these autoantibodies are useful in informing the diagnosis, management ... Read more >>

Open Access Rheumatol (Open access rheumatology : research and reviews)
[2020, 12:9-14]

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Association Between Treatment-Resistant Sarcoid Myopathy and Inclusion Body Myositis.

Dario A Marotta, Hassan Kesserwani,

The association between sarcoid myopathy and inclusion body myositis is a rare phenomenon that is not well understood. In this case, we present a 46-year-old female with a five-year history of sarcoidosis who became refractory to treatment, experiencing progressive deterioration and muscle wasting. The patient's distribution of muscle weakness did ... Read more >>

Cureus (Cureus)
[2020, 12(1):e6656]

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Recombinant Irisin Prevents the Reduction of Osteoblast Differentiation Induced by Stimulated Microgravity through Increasing β-Catenin Expression.

Zhihao Chen, Yan Zhang, Fan Zhao, Chong Yin, Chaofei Yang, Xue Wang, Zixiang Wu, Shujing Liang, Dijie Li, Xiao Lin, Ye Tian, Lifang Hu, Yu Li, Airong Qian,

Background: Irisin, a novel exercise-induced myokine, was shown to mediate beneficial effects of exercise in osteoporosis. Microgravity is a major threat to bone homeostasis of astronauts during long-term spaceflight, which results in decreased bone formation. Methods: The hind-limb unloading mice model and a random position machine are respectively used to ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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Compensatory neuromuscular junction adaptations of forelimb muscles in focal cortical ischemia in rats.

Yisel Carolina Estrada-Bonilla, Paula Aiello Castro de Souza-Tomé, Fernanda María Faturi, Rafaella Mendes-Zambetta, Anna Carolyna Lepesteur-Gianlorenço, Gabrielle Croti, Theresa A Jones, Thiago Luiz Russo,

INTRODUCTION:Upper limb movements are affected frequently by brain ischemia (BI). Mechanisms involved in recovery and compensatory movements have developed several studies. However, less attention is given to skeletal muscles, where neuromuscular junction (NMJ) has an important role on muscle tropism and functional performance. METHODS:Animals were divided into two groups: control ... Read more >>

Brain Behav (Brain and Behavior)
[2020, 10(3):e01472]

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Status Epilepticus Manifested as Continuous Epileptic Spasms.

Jianxiang Liao, Tieshuan Huang, Myriam Srour, Yuhan Xiao, Yan Chen, Sufang Lin, Li Chen, Yan Hu, Lina Men, Jialun Wen, Bing Li, Feiqiu Wen, Lan Xiong,

Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes. Methods: This is a case series study ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:65]

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Does Blood Flow Restriction Therapy in Patients Older Than Age 50 Result in Muscle Hypertrophy, Increased Strength, or Greater Physical Function? A Systematic Review.

Breanne S Baker, Michael S Stannard, Dana L Duren, James L Cook, James P Stannard,

BACKGROUND:Blood flow restriction (BFR) is a process of using inflatable cuffs to create vascular occlusion within a limb during exercise. The technique can stimulate muscle hypertrophy and improve physical function; however, most of these studies have enrolled healthy, young men with a focus on athletic performance. Furthermore, much of the ... Read more >>

Clin. Orthop. Relat. Res. (Clinical orthopaedics and related research)
[2020, 478(3):593-606]

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Parry-Romberg Syndrome With Hemimasticatory Spasm: A Rare Combination.

Guang-Can Chen, Min-Jie Chen, Wen-Bin Wei, Yun-Bo Hao,

Parry-Romberg syndrome is a rare craniofacial disorder characterized by progressive hemifacial atrophy with systematic manifestations. The combination with hemimasticatory spasm is rare, with only 9 patients reported before. In this study, a study of a young male patient with Parry-Romberg syndrome and hemimasticatory spasm on his left side was presented. ... Read more >>

J Craniofac Surg (The Journal of craniofacial surgery)
[2020, 31(2):e205-e208]

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MEG3 Promotes Differentiation of Porcine Satellite Cells by Sponging miR-423-5p to Relieve Inhibiting Effect on SRF.

Xiaofang Cheng, Long Li, Gaoli Shi, Lin Chen, Chengchi Fang, Mengxun Li, Changchun Li,

Although thousands of long noncoding RNAs (lncRNAs) have been identified in porcine growth and development, the regulation mechanisms of functional lncRNAs have not been well explored. In this study, using 5'- and 3'-rapid amplification of cDNA ends (RACE) assays, we obtained two different variants of lncRNA maternally expressed gene 3 ... Read more >>

Cells (Cells)
[2020, 9(2):]

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Checkpoint inhibitor myasthenia-like syndrome and myositis associated with extraocular muscle atrophy.

Tia R A Ozarczuk, David A Prentice, Lay K Kho, Jolandi vanHeerden,

A patient with metastatic melanoma developed myasthenia-like syndrome and paraspinal myositis with subsequent extraocular muscle atrophy associated with immune checkpoint inhibitor treatment. MRI scan of the ocular muscles on admission was normal, however 3 months later revealed significant extraocular muscle atrophy. ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, 71:271-272]

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Role of Insulin-Like Growth Factor Receptor 2 across Muscle Homeostasis: Implications for Treating Muscular Dystrophy.

Yvan Torrente, Pamela Bella, Luana Tripodi, Chiara Villa, Andrea Farini,

The insulin-like growth factor 2 receptor (IGF2R) plays a major role in binding and regulating the circulating and tissue levels of the mitogenic peptide insulin-like growth factor 2 (IGF2). IGF2/IGF2R interaction influences cell growth, survival, and migration in normal tissue development, and the deregulation of IGF2R expression has been associated ... Read more >>

Cells (Cells)
[2020, 9(2):]

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Clinician awareness of brain computer interfaces: a Canadian national survey.

Sasha Letourneau, Ephrem Takele Zewdie, Zeanna Jadavji, John Andersen, Lee M Burkholder, Adam Kirton,

BACKGROUND:Individuals with severe neurological disabilities but preserved cognition, including children, are often precluded from connecting with their environments. Brain computer interfaces (BCI) are a potential solution where advancing technologies create new clinical opportunities. We evaluated clinician awareness as a modifiable barrier to progress and identified eligible populations. METHODS:We executed a ... Read more >>

J Neuroeng Rehabil (Journal of neuroengineering and rehabilitation)
[2020, 17(1):2]

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Waddling Gait: A complication of valproate therapy and a thought beyond vitamin D deficiency.

Amit Sharma, Siddhartha Sinha, Amit Narang, Dushyant K Chouhan, Sumit Gupta,

Proximal muscle weakness is a common presentation in paediatric-orthopaedic clinics and is frequently paired with a vitamin D deficiency diagnosis. Recently, side effects of the extensive use of antiepileptic and antipsychotic drugs such as sodium valproate in childhood disorders are being documented. Sodium valproate causes a time-dependent, drug-induced proximal myopathy. ... Read more >>

Sultan Qaboos Univ Med J (Sultan Qaboos University medical journal)
[2020, 20(1):e104-e108]

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The Neuropathology of Gluten-Related Neurological Disorders: A Systematic Review.

Maxine D Rouvroye, Panagiotis Zis, Anne-Marie Van Dam, Annemieke J M Rozemuller, Gerd Bouma, Marios Hadjivassiliou,

Gluten-related neurological disorders (GRND) represent a spectrum of neurological manifestations that are triggered by gluten. In coeliac disease, a T-cell mediated enteropathy is triggered by gluten in genetically predisposed individuals. The underlying pathological mechanism of the neurological dysfunction is not yet clear. The aim of this review is to collate ... Read more >>

Nutrients (Nutrients)
[2020, 12(3):]

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Systemic Actions of Breast Cancer Facilitate Functional Limitations.

Ruizhong Wang, Harikrishna Nakshatri,

Breast cancer is a disease of a specific organ, but its effects are felt throughout the body. The systemic effects of breast cancer can lead to functional limitations in patients who suffer from muscle weakness, fatigue, pain, fibromyalgia, or many other dysfunctions, which hasten cancer-associated death. Mechanistic studies have identified ... Read more >>

Cancers (Basel) (Cancers)
[2020, 12(1):]

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A recessive Trim2 mutation causes an axonal neuropathy in mice.

Jian J Li, Nicolas Sarute, Eunjoo Lancaster, Guliz Otkiran-Clare, Bani Medegan Fagla, Susan R Ross, Steven S Scherer,

We analyzed Trim2A/A mice, generated by CRISPR-Cas9, which have a recessive null mutation of Trim2. Trim2A/A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuropathy. Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that ... Read more >>

Neurobiol. Dis. (Neurobiology of disease)
[2020, :104845]

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PPARβ/δ Agonism Upregulates Forkhead Box A2 to Reduce Inflammation in C2C12 Myoblasts and in Skeletal Muscle.

Wendy Wen Ting Phua, Wei Ren Tan, Yun Sheng Yip, Ivan Dongzheng Hew, Jonathan Wei Kiat Wee, Hong Sheng Cheng, Melvin Khee Shing Leow, Walter Wahli, Nguan Soon Tan,

Daily activities expose muscles to innumerable impacts, causing accumulated tissue damage and inflammation that impairs muscle recovery and function, yet the mechanism modulating the inflammatory response in muscles remains unclear. Our study suggests that Forkhead box A2 (FoxA2), a pioneer transcription factor, has a predominant role in the inflammatory response ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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