7,447 results match your criteria myopathy systemic


[An update on giant cell arteritis].

Rev Med Chil 2020 Nov;148(11):1619-1629

Departamento de Radiología, Clínica Las Condes, Santiago, Chile.

Giant cell arteritis (GCA) is a primary granulomatous systemic vasculitis involving the aorta and its main branches that affects people aged over 50 years with a genetic predisposition. Its main phenotypes are cranial and extracranial involvement, with or without symptoms of polymyalgia rheumatica. These phenotypes can overlap. Read More

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November 2020

Costs and health resource use in patients with X-linked myotubular myopathy: insights from U.S. commercial claims.

J Manag Care Spec Pharm 2021 Apr 12:1-8. Epub 2021 Apr 12.

Harvard Medical School and Boston Children's Hospital, Boston, MA.

In X-linked myotubular myopathy (XLMTM), mutations in the gene result in absence or dysfunction of myotubularin, a protein required for normal development, maintenance, and function of skeletal muscle. Extreme muscle weakness results in severe respiratory failure that is fatal for approximately half of XLMTM-affected children by age 18 months. Most surviving patients require invasive mechanical ventilation, feeding tubes, and wheelchairs for mobility, due to profoundly impaired motor function. Read More

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Muscle Damage in Systemic Sclerosis and CXCL10: The Potential Therapeutic Role of PDE5 Inhibition.

Int J Mol Sci 2021 Mar 12;22(6). Epub 2021 Mar 12.

Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds LS9 7TF, UK.

Skeletal muscle damage is a common clinical manifestation of systemic sclerosis (SSc). C-X-C chemokine ligand 10 (CXCL10) is involved in myopathy and cardiomyopathy development and is associated with a more severe SSc prognosis. Interestingly, the phosphodiesterase type 5 inhibitor (PDE5i) sildenafil reduces CXCL10 sera levels of patients with diabetic cardiomyopathy and in cardiomyocytes. Read More

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Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort.

Metabolites 2021 Mar 30;11(4). Epub 2021 Mar 30.

Department of Animal Science, Biotechnical Faculty, University of Ljubljana, SI-1000 Ljubljana, Slovenia.

Spinal muscular atrophy (SMA) is a genetically heterogeneous group of rare neuromuscular diseases and was until recently the most common genetic cause of death in children. The effects of 2-month nusinersen therapy on urine, serum, and liquor 1H-NMR metabolomes in SMA males and females were not explored yet, especially not in comparison to the urine 1H-NMR metabolomes of matching male and female cohorts. In this prospective, single-centered study, urine, serum, and liquor samples were collected from 25 male and female pediatric patients with SMA before and after 2 months of nusinersen therapy and urine samples from a matching healthy cohort ( = 125). Read More

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The clinicoserological spectrum of inflammatory myopathy in the context of systemic sclerosis and systemic lupus erythematosus.

Indian J Rheumatol 2020 Dec 18;15(6):81-90. Epub 2021 Jan 18.

Johns Hopkins Myositis Center. 5200 Eastern Avenue, MFL Building, Center Tower Suite 4500, Baltimore, MD USA.

The autoimmune rheumatic diseases (ARDs) are characterised by a pathological triad composed of autoimmunity/inflammation, microangiopathy and aberrant tissue remodelling. Disease terms such as idiopathic inflammatory myopathy (IIM), scleroderma/systemic sclerosis (SSc), and systemic lupus erythematosus (SLE) are helpful clinically but disguise the considerable overlap that exists within these 'distinct' disorders. This is perhaps best demonstrated by inflammatory myopathy, which can be present in SSc or SLE, but can itself be absent in clinically amyopathic IIM. Read More

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December 2020

Management of tenosynovial giant cell tumour of the foot and ankle.

Bone Joint J 2021 Apr;103-B(4):788-794

Department of Orthopaedic Surgery, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Aims: Tenosynovial giant cell tumour (TGCT) is one of the most common soft-tissue tumours of the foot and ankle and can behave in a locally aggressive manner. Tumour control can be difficult, despite the various methods of treatment available. Since treatment guidelines are lacking, the aim of this study was to review the multidisciplinary management by presenting the largest series of TGCT of the foot and ankle to date from two specialized sarcoma centres. Read More

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MiR-199-3p enhances muscle regeneration and ameliorates aged muscle and muscular dystrophy.

Commun Biol 2021 Mar 29;4(1):427. Epub 2021 Mar 29.

Department of Molecular Pharmacology, National Institute of Neuroscience, NCNP, Tokyo, Japan.

Parabiosis experiments suggest that molecular factors related to rejuvenation and aging circulate in the blood. Here, we show that miR-199-3p, which circulates in the blood as a cell-free miRNA, is significantly decreased in the blood of aged mice compared to young mice; and miR-199-3p has the ability to enhance myogenic differentiation and muscle regeneration. Administration of miR-199 mimics, which supply miR-199-3p, to aged mice resulted in muscle fiber hypertrophy and delayed loss of muscle strength. Read More

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Radiation-Induced Myopathy Developing in a Hodgkin Lymphoma Patient: An Autopsy Case with Systemic Muscle Sampling.

Case Rep Oncol 2021 Jan-Apr;14(1):338-342. Epub 2021 Mar 8.

Department of Hematology, Juntendo University School of Medicine, Tokyo, Japan.

Radiation-induced myopathy (RIM) is a rare complication occurring years after radiotherapy. RIM basically occurs within the irradiation field, but some cases have been reported to be accommodated by myopathy outside the irradiation field, and the actual extent of RIM is obscure. The presented case also showed decreased MMT scores and abnormal needle electromyography results in the muscles outside the irradiated field, and the patient was initially thought to have RIM both within and outside the irradiated field. Read More

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[A case of anti-Th/To antibody-positive systemic sclerosis with muscle symptoms and interstitial pneumonia].

Rinsho Shinkeigaku 2021 Mar 25. Epub 2021 Mar 25.

Internal Medicine, Cardiovascular, Respiratory and Neurology Division, Asahikawa Medical University.

A 62-year-old Japanese man with swollen fingers and walking difficulty due to myalgia and muscle weakness in proximal limb muscles was admitted to our hospital. Serum creatine kinase was remarkably increased (7,380 U/l) and rapidly progressing interstitial pneumonia developed. Muscle biopsy showed necrotic and regenerating fibers without mononuclear infiltration and fibrosis. Read More

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Children's Multisystem inflammatory syndrome with myopathy.

Rev Soc Bras Med Trop 2021 22;54:e0865. Epub 2021 Mar 22.

Fundação Oswaldo Cruz, Instituto Nacional Fernandes Figueira, Departamento de Pediatria, Unidade de Terapia Intensiva, Rio de Janeiro, RJ, Brasil.

This report describes a case of multisystem inflammatory syndrome in a child that evolved with a pattern of toxic shock syndrome with coronary artery ectasia and neurological involvement, documented by magnetic resonance imaging, with changes in the corpus callosum and myopathy in the pelvic girdle and paravertebral musculature. Read More

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Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.

Cardiovasc Res 2021 Mar 19. Epub 2021 Mar 19.

Department of Hypertension, National Institute of Cardiology, Warsaw, Poland.

Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that may involve medium-sized muscular arteries throughout the body. The majority of FMD patients are women. Although a variety of genetic, mechanical, and hormonal factors play a role in the pathogenesis of FMD, overall, its cause remains poorly understood. Read More

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Physiology in Medicine: Pathophysiology and management of critical illness polyneuropathy and myopathy.

J Appl Physiol (1985) 2021 Mar 18. Epub 2021 Mar 18.

Department of Physical Medicine and Rehabilitation, Queen's University, Canada.

Critical illness associated weakness (CIAW) is an umbrella term used to describe a group of neuromuscular disorders caused by severe illness. It can be subdivided into three major classifications based on the component of the neuromuscular system (i.e. Read More

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Is Upregulation of Sarcolipin Beneficial or Detrimental to Muscle Function?

Front Physiol 2021 1;12:633058. Epub 2021 Mar 1.

Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH, United States.

Sarcolipin (SLN) is a regulator of sarco/endo plasmic reticulum Ca-ATPase (SERCA) pump and has been shown to be involved in muscle nonshivering thermogenesis (NST) and energy metabolism. Interestingly, SLN expression is significantly upregulated both during muscle development and in several disease states. However, the significance of altered SLN expression in muscle patho-physiology is not completely understood. Read More

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Multiple neurological manifestations in a patient with systemic lupus erythematosus and anti-NXP2-positive myositis: A case report.

Medicine (Baltimore) 2021 Mar;100(10):e25063

Department of Neurology, The General Hospital of Western Theater Command, Jinniu District, Chengdu, Sichuan Province, People's Republic of China.

Rationale: Systemic lupus erythematosus (SLE) is a complex autoimmune inflammatory disease that frequently affects various organs. Neuropsychiatric manifestations in SLE patients, known as neuropsychiatric SLE, are clinically common. However, the principal manifestation of cranial neuropathy in patients with SLE and comorbidities is relatively rare. Read More

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Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study.

Front Neurosci 2021 23;15:638810. Epub 2021 Feb 23.

Unit of Muscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Friedreich's ataxia (FRDA) is the most frequent autosomal recessive ataxia in western countries, with a mean age of onset at 10-15 years. Patients manifest progressive cerebellar and sensory ataxia, dysarthria, lower limb pyramidal weakness, and other systemic manifestations. Previously, we described a family displaying two expanded GAA alleles not only in the proband affected by late-onset FRDA but also in the two asymptomatic family members: the mother and the younger sister. Read More

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February 2021

Endogenous glucose production in critical illness.

Nutr Clin Pract 2021 Mar 8. Epub 2021 Mar 8.

Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Regulation of endogenous glucose production (EGP) by hormonal, neuronal, and metabolic signaling pathways contributes to the maintenance of euglycemia under normal physiologic conditions. EGP is defined by the generation of glucose from substrates through glycogenolysis and gluconeogenesis, usually in fasted states, for local and systemic use. Abnormal increases in EGP are noted in patients with diabetes mellitus type 2, and elevated EGP may also impact the pathogenesis of nonalcoholic fatty liver disease and congestive heart failure. Read More

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Rehabilitation of Neuromuscular Diseases During COVID-19: Pitfalls and Opportunities.

Front Neurol 2021 19;12:626319. Epub 2021 Feb 19.

Department of Medical and Surgical Specialties and Dentistry, University of Campania "Luigi Vanvitelli", Naples, Italy.

The outbreak of COVID-19 caused by SARS-CoV-2 has spread worldwide with a huge impact on the healthcare system. Compared to the previous coronaviruses-related pandemics, COVID-19 is more transmissible with potential systemic involvement and peculiar neurological manifestations, such as Guillan-Barrè syndrome up to critical illness myopathy, occurring in the intensive care setting. In this clinical scenario, people living with a neuromuscular disease (NMD) represent a vulnerable category with a high risk of a severe course of COVID-19. Read More

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February 2021

Intracellular trafficking of adeno-associated virus (AAV) vectors: challenges and future directions.

Gene Ther 2021 Mar 3. Epub 2021 Mar 3.

Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

In the last two decades, recombinant adeno-associated virus has emerged as the most popular gene therapy vector. Recently AAV gene therapy has been approved by the FDA for the treatment of two rare genetic disorders, namely the early childhood blindness disease Leber congenital amaurosis and spinal muscular atrophy (SMA). As is the case for the treatment of SMA, if the AAV vector must be administered systemically, very high vector doses are often required for therapeutic efficacy. Read More

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The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies.

Neurol India 2021 Jan-Feb;69(1):177-180

Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece.

Blepharoptosis (ptosis) is classified, based on etiology, into mechanical, cerebral, neurogenic, neuromuscular, myogenic, and due to miscellaneous causes. Primary myopathic diseases are rare causes of blepharoptosis and many patients with myogenic ptosis undergo a series of extensive investigations before a myopathy is being considered. In this study, we report four patients with different myopathic disorders who had blepharoptosis as a presenting symptom of their disease. Read More

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Ideal cardiovascular health in women with systemic lupus erythematosus: Association with arterial stiffness, inflammation, and fitness.

Int J Cardiol 2021 May 20;330:207-213. Epub 2021 Feb 20.

Department of Education, Faculty of Education Sciences, University of Almería, Almería, Spain; SPORT Research Group (CTS-1024), CERNEP Research Center, University of Almería, Almería, Spain.

Background: Systemic Lupus Erythematosus (SLE) is closely related to cardiovascular morbidity and mortality. We aimed to examine the association of ideal cardiovascular health (ICH) with arterial stiffness, inflammation, and physical fitness in women with SLE.

Methods: This cross-sectional study included 76 women with SLE (age 43. Read More

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Bone health in idiopathic inflammatory myopathies.

Autoimmun Rev 2021 Apr 17;20(4):102782. Epub 2021 Feb 17.

Department of Rheumatology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK. Electronic address:

Objective: To review the extant literature relating to bone health in the idiopathic inflammatory myopathies (IIM) including both adult and juvenile patients.

Methods: A PubMed search® identified relevant studies from 1966 to 2020 in accordance with PRISMA guidelines. Two independent reviewers screened and extracted the abstracts/full manuscripts, and a third author was consulted in the case of disagreement. Read More

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The Bidirectional Relationship Between Obstructive Sleep Apnea and Chronic Kidney Disease.

Authors:
Lily Hui Ruth Benca

J Stroke Cerebrovasc Dis 2021 Feb 16:105652. Epub 2021 Feb 16.

University of California, Irvine, 101 The City Drive South, Bldg 3, Rt. 88, Irvine, CA 92697, United States.

Sleep apnea is a condition with significant health risks and increased risk of mortality and is prevalent in patients with chronic kidney disease. This paper describes the detrimental cardiovascular sequelae of sleep-disordered breathing and explores the bidirectional relationship between chronic kidney disease and obstructive sleep apnea. Obstructive sleep apnea-related hypoxia produces a range of harmful systemic effects including oxidative stress, inflammation, and sympathetic activation that collectively worsen the progression of renal disease. Read More

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February 2021

Case Report: Myopathy in Critically Ill COVID-19 Patients: A Consequence of Hyperinflammation?

Front Neurol 2021 29;12:625144. Epub 2021 Jan 29.

Department of Neuroscience, Imaging and Clinical Sciences, University "G. d'Annunzio", Chieti, Italy.

COVID-19-associated muscular complications may comprise myalgia, weakness, wasting, and rhabdomyolysis. Skeletal muscle damage in COVID-19 may be due to direct infection by the virus SARS-CoV-2 through interaction with the ACE2 receptor, systemic hyper-inflammatory state with cytokine release and homeostatic perturbation, an autoimmune process, or myotoxic drugs. Disclosing the cause of weakness in an individual patient is therefore difficult. Read More

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January 2021

Functioning in adult patients with idiopathic inflammatory myopathy: Exploring the role of environmental factors using focus groups.

PLoS One 2021 11;16(2):e0244959. Epub 2021 Feb 11.

Systemic Autoimmune Diseases Unit, Department of Medicine, Vall d'Hebron General Hospital, Universitat Autonoma de Barcelona, Barcelona, Spain.

Objective: Health-related quality of life is impaired in idiopathic inflammatory myopathies. This study aimed to identify the main areas of the health-related quality of life environment domain that are affected in patients with myositis.

Methods: A qualitative study was performed using focus groups and applying the International Classification of Functioning, Disability, and Health. Read More

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February 2021

Beneficial effects of dantrolene in the treatment of rhabdomyolysis as a potential late complication associated with COVID-19: a case report.

Eur J Med Res 2021 Feb 8;26(1):18. Epub 2021 Feb 8.

Division of Emergency and Critical Care Medicine, Department of Acute Medicine, Nihon University School of Medicine, 30-1 Oyaguchi-kamimachi, Itabashi-Ku, Tokyo, 173-8610, Japan.

Background: Patients with severe COVID-19 have disorders of the respiratory, cardiovascular, coagulation, skeletal muscle, and central nervous systems. These systemic failures may be associated with cytokine release syndrome, characterized by hyperpyrexia, thrombocytopenia, hyperferritinemia, and the elevation of other inflammatory markers. Rhabdomyolysis with high fever is a complication that is rarely found in COVID-19. Read More

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February 2021

Enhanced cell survival and therapeutic benefits of IL-10-expressing multipotent mesenchymal stromal cells for muscular dystrophy.

Stem Cell Res Ther 2021 Feb 4;12(1):105. Epub 2021 Feb 4.

Department of Biochemistry and Molecular Biology, Nippon Medical School, Bunkyo City, Tokyo, Japan.

Background: Multipotent mesenchymal stromal cells (MSCs) are potentially therapeutic for muscle disease because they can accumulate at the sites of injury and act as immunosuppressants. MSCs are attractive candidates for cell-based strategies that target diseases with chronic inflammation, such as Duchenne muscular disease (DMD). We focused on the anti-inflammatory properties of IL-10 and hypothesized that IL-10 could increase the typically low survival of MSCs by exerting a paracrine effect after transplantation. Read More

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February 2021

[Research progress of silica-associated autoimmune diseases].

Authors:
W J Xu Q Ye

Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2021 Jan;39(1):69-73

Department of Occupational Medicine and Toxicology, Clinical Center for Interstitial Lung Diseases, Beijing Chaoyang Hospitial, Capital Medical University, Beijing 100020, China.

Silicosis is caused by long-term exposure to dust containing crystalline silica. However, silica exposure, which may lead to autoimmune dysfunction, is associated with autoimmune diseases such as rheumatoid arthritis, systemic sclerosis, systemic lupus erythematosus, idiopathic inflammatory myopathy and anti-central granulocyte cytoplasmic antibody associated vasculitis. With silica exposure autoimmune diseases may exist with or without silicosis. Read More

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January 2021

Clinical manifestation of multiple wasp stings with details of whole transcriptome analysis: Two case reports.

Medicine (Baltimore) 2021 Jan;100(4):e24492

Department of Critical Care Medicine, Taichung Veterans General Hospital.

Introduction: Multiple wasp stings is an emergency result from systemic reactions to the toxin with a wide range of manifestations, and we presented 2 patients with distinct clinical and transcriptomic findings.

Patient Concerns: Two patients without systemic disease presented with nearly 90 painful papules after attacked by a swarm of wasps (Vespa basalis).

Diagnosis: Patient 1 was a 44-year-old healthy male whose clinical manifestations mainly comprised hemolysis, hepatic injury, rhabdomyolysis, and acute kidney injury. Read More

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January 2021

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): Where will the drugs come from?

Pharmacol Res 2021 03 30;165:105465. Epub 2021 Jan 30.

Cayman Chemical Company, 1180 E. Ellsworth Road, Ann Arbor, MI, 48108, United States.

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a chronic debilitating disease characterized by severe and disabling fatigue that fails to improve with rest; it is commonly accompanied by multifocal pain, as well as sleep disruption, and cognitive dysfunction. Even mild exertion can exacerbate symptoms. The prevalence of ME/CFS in the U. Read More

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