9,775 results match your criteria Rhabdomyolysis


[Non-inflammatory muscle pain].

Dtsch Med Wochenschr 2020 Jul 2;145(13):887-894. Epub 2020 Jul 2.

Muscle pain as a common symptom in daily practice frequently occurs as a non-specific accompanying symptom in multiple internal and neurological diseases. Primarily inflammatory or autoimmune muscular diseases are causing muscle pain. However, a number of non-inflammatory causes of pain can also be considered for differential diagnosis. Read More

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http://dx.doi.org/10.1055/a-1068-5210DOI Listing

Risk of chronic kidney disease in patients with heat injury: A nationwide longitudinal cohort study in Taiwan.

PLoS One 2020 2;15(7):e0235607. Epub 2020 Jul 2.

Division of Nephrology, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

Global climate change has led to a significant increase in temperature over the last century and has been associated with significant increases in the severity and frequency of heat injury (HI). The consequences of HI included dehydration and rhabdomyolysis, leading to acute kidney injury, which is now recognized as a clear risk factor for chronic kidney disease (CKD). We aimed to investigate the effects of HI on the risk of CKD. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0235607PLOS

Rhabdomyolysis as Potential Late Complication Associated with COVID-19.

Emerg Infect Dis 2020 Jul 2;26(10). Epub 2020 Jul 2.

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http://dx.doi.org/10.3201/eid2610.202225DOI Listing

Safety of a Combined WB-EMS and High-Protein Diet Intervention in Sarcopenic Obese Elderly Men.

Clin Interv Aging 2020 24;15:953-967. Epub 2020 Jun 24.

Institute for Biomedicine of Aging, Friedrich-Alexander-Universität Erlangen-Nürnberg, Nuremberg, Germany.

Purpose: Whole-body electromyostimulation (WB-EMS) especially in combination with a high-protein supplementation has been established as an efficient treatment against sarcopenia. However, there are several case reports of rhabdomyolysis after WB-EMS application. Thus, we asked if this training could potentially lead to deteriorations of the cardiac as well as the renal function. Read More

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http://dx.doi.org/10.2147/CIA.S248868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322975PMC

Severe rhabdomyolysis and acute asymptomatic pancreatitis following the concomitant use of Biktarvy in the setting of hyperosmolar diabetic crisis.

BMJ Case Rep 2020 Jul 1;13(7). Epub 2020 Jul 1.

Department of Internal Medicine, HIV Reference Center, Hôpital Erasme, Université Libre de Bruxelles, Hopital Erasme, Bruxelles, Belgium.

Biktarvy (bictegravir/emtricitabine/tenofovir alafemanide), which has been recently approved for the treatment of HIV, is a single-pill regimen that associates bictegravir and a novel integrase strand transfer inhibitor (INSTI) with a combination of two nucleoside reverse transcriptase inhibitors (NRTI) of emtricitabine and tenofovir alafemanide. Among treatment complications, rhabdomyolysis has been reported in association with some NRTI and INSTI but never with bictegravir. Acute pancreatitis has also been reported recently with another INSTI, dolutegravir. Read More

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http://dx.doi.org/10.1136/bcr-2020-234483DOI Listing

May-Thurner Syndrome Results in Life-Threatening Condition: Phlegmasia Cerulea Dolens and Rhabdomyolysis.

J Invasive Cardiol 2020 Jul;32(7):E190

Division of Cardiology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, 9/F Clinical Science Building, Prince of Wales Hospital, 30-32 NganShing Street, Shatin, NT, Hong Kong SAR, China.

Venography alone may underestimate the extent of common iliac vein compression in May-Thurner syndrome. Peripheral intravascular ultrasound is mandatory to better assess common iliac vein compression. Read More

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Biomarkers, Creatine Kinase, and Kidney Function of Special Operation Candidates During Intense Physiological Training.

Mil Med 2020 Jun 30. Epub 2020 Jun 30.

711 Human Performance Wing Human Effectiveness Directorate, Wright Patterson AFB, OH 45433.

Introduction: The purpose of this pilot study was to assess for biomarkers indicative of passing intense physical training and establishing normative values within the tactical athlete population. Unfortunately, none of the biomarkers assessed were indicative of passing training, however, glucose, blood urea nitrogen, and creatine kinase (CK) levels stood out as abnormal. CK levels are commonly used in conjunction with muscle pain and/or myoglobinurea to diagnose exertional rhabdomyolysis (ER) in athletes and the military population. Read More

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http://dx.doi.org/10.1093/milmed/usaa079DOI Listing

Selenium-Doped Carbon Quantum Dots Act as Broad-Spectrum Antioxidants for Acute Kidney Injury Management.

Adv Sci (Weinh) 2020 Jun 29;7(12):2000420. Epub 2020 Apr 29.

Department of Pharmaceutical Sciences University of Wisconsin-Madison Madison WI 53705 USA.

The manifestation of acute kidney injury (AKI) is associated with poor patient outcomes, with treatment options limited to hydration or renal replacement therapies. The onset of AKI is often associated with a surfeit of reactive oxygen species. Here, it is shown that selenium-doped carbon quantum dots (SeCQDs) have broad-spectrum antioxidant properties and prominent renal accumulation in both healthy and AKI mice. Read More

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http://dx.doi.org/10.1002/advs.202000420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312409PMC

A Case of Gitelman Syndrome Diagnosed with Anorexia Nervosa in a Psychiatry Clinic.

Turk Psikiyatri Derg 2020 ;31(1):69-73

Anorexia nervosa is a disorder that is characterized by excessive preoccupation with body weight and shape, and conscious attempts to stay in low weight due to fear of weight gain. Vomiting, one of the METHODS used by anorexia nervosa patients to stay in low weight, is one of the most important causes of hypokalemia. Diuretics and diarrhea are other common causes of hypokalemia. Read More

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January 2020

Rhabdomyolysis as an initial presentation in a patient diagnosed with COVID-19.

BMJ Case Rep 2020 Jun 24;13(6). Epub 2020 Jun 24.

Pulmonary Medicine, Centro Medico ABC, Mexico City, Mexico.

The presence of rhabdomyolysis secondary to multiple infections has been reported, predominantly viral, but also bacterial and fungal. It is well known that COVID-19 can present a wide variety of complications during the course of infection; however, the presence of rhabdomyolysis as an initial condition has not been reported so far. We report a case of rhabdomyolysis as an initial presentation in a patient diagnosed with SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2) infection. Read More

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http://dx.doi.org/10.1136/bcr-2020-236719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319710PMC

Rhabdomyolysis as the main manifestation of coronavirus disease 2019.

Rheumatology (Oxford) 2020 Jun 25. Epub 2020 Jun 25.

Rheumatology Department.

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http://dx.doi.org/10.1093/rheumatology/keaa351DOI Listing

Statin-Associated Autoimmune Myopathy: Current Perspectives.

Authors:
Eleni Tiniakou

Ther Clin Risk Manag 2020 27;16:483-492. Epub 2020 May 27.

Johns Hopkins University School of Medicine, Department of Medicine, Division of Rheumatology, Baltimore, MD, USA.

Although generally well tolerated, statin users frequently report muscle-related side effects, ranging from self-limiting myalgias to rhabdomyolysis or the rare clinical entity of statin-associated immune-mediated necrotizing myopathy (IMNM). Statin-associated IMNM is based on the development of autoantibodies against 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), the rate-limiting enzyme in cholesterol synthesis and the pharmacologic target of statins, and leads to a necrotizing myopathy requiring immunosuppressive therapy. This review attempts to recapitulate the diverse aspects of anti-HMGCR IMNM, including clinical presentation, diagnostic modalities, genetic risk associations, therapeutic options and potential pathogenetic pathways. Read More

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http://dx.doi.org/10.2147/TCRM.S197941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266943PMC

Evaluation of daptomycin-induced cellular membrane injury in skeletal muscle.

Biol Pharm Bull 2020 Jun 23. Epub 2020 Jun 23.

Department of Pharmacy, Hokkaido University Hospital.

Daptomycin, a cyclic lipopeptide antibiotic, has bactericidal activity against gram-positive organisms and is especially effective against methicillin-resistant Staphylococcus aureus. Although daptomycin causes unique adverse drug reactions such as elevation of creatine phosphokinase or rhabdomyolysis, the detailed mechanisms underlying these adverse drug reactions in skeletal muscle are unclear. This study aimed to elucidate whether daptomycin causes direct skeletal muscle cell toxicity and investigate the relationship between daptomycin exposure and musculoskeletal toxicity. Read More

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http://dx.doi.org/10.1248/bpb.b20-00217DOI Listing

Rapidly progressive glomerulonephritis and acute kidney injury associated with cocaine use - Case report.

J Bras Nefrol 2020 Jun 22. Epub 2020 Jun 22.

Universidade Federal do Ceará, Faculdade de Medicina, Departamento de Medicina Clínica, Programa de Pós-Graduação em Ciências Médicas, Fortaleza, CE, Brasil.

A wide spectrum of renal complications can occur with acute and chronic use of cocaine. Most cases are related to rhabdomyolysis, but other mechanisms are malignant hypertension, renal ischemia, and rapidly progressive glomerulonephritis (RPGN) associated-ANCA vasculitis. In recent years, the use of cocaine adulterated with levamisole has been associated with ANCA vasculitis and pauci-immune RPGN. Read More

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http://dx.doi.org/10.1590/2175-8239-JBN-2020-0034DOI Listing

The benefit of cinnamon ( ) in lowering total cholesterol levels after consumption of high-fat containing foods in white mice ( ) models.

F1000Res 2020 6;9:168. Epub 2020 Mar 6.

Department of Pharmacology, Faculty of Medicine, Universitas Sumatera Utara, Medan, North Sumatera, Indonesia.

Hypercholesterolemia is a condition where cholesterol levels in the body exceed the normal range. If the condition is longer, it can cause metabolic and cardiovascular diseases. The therapy of synthetic drugs has side effects that can be fatal (rhabdomyolysis). Read More

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http://dx.doi.org/10.12688/f1000research.22311.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295078PMC

The safety and tolerability of epacadostat alone and in combination with pembrolizumab in patients with advanced solid tumors: results from a first-in-Japanese phase I study (KEYNOTE-434).

Invest New Drugs 2020 Jun 20. Epub 2020 Jun 20.

Department of Experimental Therapeutics, National Cancer Center Hospital, Tokyo, Japan.

Purpose: Part A of the open-label, phase I KEYNOTE-434 study evaluated the safety and tolerability of epacadostat, an indoleamine 2,3-dioxygenase-1 inhibitor, alone and in combination with pembrolizumab in Japanese patients with advanced solid tumors.

Methods: Japanese patients with refractory/recurrent metastatic or locally advanced tumors were enrolled. Cohort 1 received oral epacadostat 25 mg or 100 mg twice daily (BID) and subsequently received epacadostat in combination with intravenous pembrolizumab 200 mg every 3 weeks. Read More

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http://dx.doi.org/10.1007/s10637-020-00942-1DOI Listing

Amputation in crush syndrome: A case report.

Int J Surg Case Rep 2020 Jun 12;72:346-350. Epub 2020 Jun 12.

Fundación Valle del Lili, Cra. 98 ## 18-49, Cali, Valle del Cauca, Colombia; Universidad Icesi, Cl. 18 #122-135, Facultad de Medicina, Cali, Valle del Cauca, Colombia. Electronic address:

Introduction: Crush syndrome (CS) is a condition with a high morbidity and mortality due to severe electrolyte disorders, circulatory dysfunction and multiple organ failure, secondary to severe rhabdomyolysis and reperfusion injuries. There is controversy about the role of fasciotomy in the treatment of compartment syndromes due to crush injuries and it is still unknown if early amputation has patient-centered benefits.

Case Presentation: This is a 29-year-old patient whose lower body was trapped for 50 h under a 40-meter landslide. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.05.087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306514PMC

Case Report: A COVID-19 Patient Presenting with Mild Rhabdomyolysis.

Am J Trop Med Hyg 2020 Jun 19. Epub 2020 Jun 19.

Department of Internal Medicine, Medical Faculty, Biruni University, Istanbul, Turkey.

The news was reported from the Wuhan region of China about a novel corona virus in the end of 2019. After spreading around the world, a pandemic was declared by the WHO. Depending on the different involvement of the disease, the most common symptoms are fever, cough, and dyspnea. Read More

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http://dx.doi.org/10.4269/ajtmh.20-0583DOI Listing

Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD).

Eur J Neurol 2020 Jun 17. Epub 2020 Jun 17.

Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that manifests with variable presentations, including exercise intolerance, cardiomyopathy, and liver disease. Herein, we describe the clinical and genetic manifestations of six patients with adult-onset VLCADD.

Methods: In this study, clinical, pathological, and genetic findings of six adult patients (four Iranian and two Serbian) with VLCADD and their response to treatment are described. Read More

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http://dx.doi.org/10.1111/ene.14402DOI Listing

Facial swelling for the emergency radiologist-typical and atypical causes.

Emerg Radiol 2020 Jun 19. Epub 2020 Jun 19.

Department of Imaging Sciences, University of Rochester Medical Center, 601 Elmwood Avenue, P.O. Box 648, Rochester, NY, 14642, USA.

There are a wide variety of inflammatory, infectious, and cystic lesions which may lead patients to seek acute care for facial swelling. Computed tomography (CT) has become the mainstay for imaging in the urgent/emergent setting. However, magnetic resonance imaging (MRI) can also serve as a powerful problem solving tool in the modern era. Read More

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http://dx.doi.org/10.1007/s10140-020-01809-xDOI Listing

Veno-arterial extracorporeal membrane oxygenation for electrical injury induced cardiogenic shock support: a case report.

J Cardiothorac Surg 2020 Jun 17;15(1):143. Epub 2020 Jun 17.

Cardiac Surgery Department, B Padeh Medical Center, Poriya, Israel.

Background: High voltage electrical injury (HVEI) of more than 1000 V is a potentially devastating form of a multisystem injury associated with high morbidity and mortality. We present the first case of veno-arterial extracorporeal membrane oxygenation (VA-ECMO) as a life saving device for treating a patient with severe cardiogenic shock after a high voltage electrical injury.

Case Presentation: A 26-year-old male sustained HVEI while working with a concrete mixer pump that came in contact with a high voltage cable of 10,000 V. Read More

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http://dx.doi.org/10.1186/s13019-020-01188-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298779PMC

Acute neuromuscular paralysis, rhabdomyolysis and long lasting neurological deficits in Ceylon krait () bites: Two authentic cases from a serpentarium in Sri Lanka.

Toxicon X 2019 Oct 2;4:100015. Epub 2019 Oct 2.

Intensive Care Unit, Teaching Hospital, Ratnapura, Sri Lanka.

The Ceylon krait () is a highly venomous elapid snake endemic to Sri Lanka. Its bites are rare and only seven reports are found in the literature. Therefore, the clinical manifestations and natural history of envenoming of Ceylon krait are not well studied yet. Read More

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http://dx.doi.org/10.1016/j.toxcx.2019.100015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286062PMC
October 2019

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature.

Case Rep Med 2020 27;2020:7904190. Epub 2020 May 27.

Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.

Phosphatidate phosphatase-1 (lipin-1) is encoded by gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lankan female with a history of more than 10 episodes of rhabdomyolysis and exercise intolerance since childhood. Read More

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http://dx.doi.org/10.1155/2020/7904190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275236PMC

Creatine kinase elevation after robotic surgery for rectal cancer due to a prolonged lithotomy position.

BMC Surg 2020 Jun 16;20(1):136. Epub 2020 Jun 16.

Department of Coloproctological Surgery, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.

Background: Robotic surgery for rectal cancer, which is now performed worldwide, can be associated with elevated creatine kinase levels postoperatively. In this study, we compared postoperative complications between patients undergoing robotic surgery and laparoscopic surgery.

Methods: We identified 66 consecutive patients who underwent curative resection for rectal cancer at Juntendo University Hospital between January 2016 and February 2019. Read More

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http://dx.doi.org/10.1186/s12893-020-00771-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298864PMC

Rosuvastatin-induced rhabdomyolysis due to medication errors.

Ceska Slov Farm 2020 ;69(2):100-102

Case (description): A 74 years old Caucasian suffering from chronic kidney disease presented with progressive asthenia and diffuse myalgia. It was revealed that the patient used three different rosuvastatin-containing preparations in a total daily dose of 120 mg for 76 days. Laboratory investigations revealed a marked elevation of serum urea, creatinine, myoglobin, creatine kinase (CK) and transaminases. Read More

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January 2020

Use of the CytoSorb adsorption device in MDMA intoxication: a first-in-man application and in vitro study.

Intensive Care Med Exp 2020 Jun 15;8(1):21. Epub 2020 Jun 15.

Department of Cardiology and Angiology I, Faculty of Medicine, Heart Center Freiburg University, University of Freiburg, Hugstetter Str. 55, 79106, Freiburg, Germany.

Background: 3,4-Methylenedioxymethamphetamine (MDMA, "ecstasy") abuse is frequent, and overdosing might cause severe and eventually lethal multi-organ failure. To date, there is no causal therapy of MDMA intoxication and removal of MDMA from the circulation might be a reasonable measure to prevent adverse courses after overdosing. We present here first-in-man experience and in vitro data supporting a potential role of an adsorber device in severe MDMA overdosing. Read More

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http://dx.doi.org/10.1186/s40635-020-00313-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295925PMC

A Rare Presentation of Coronavirus Disease 2019 (COVID-19) Induced Viral Myositis With Subsequent Rhabdomyolysis.

Cureus 2020 May 12;12(5):e8074. Epub 2020 May 12.

Library Science, Abington Hospital-Jefferson Health, Abington, USA.

A 38-year-old gentleman with no significant past medical history but had recent COVID-19 exposure presented to the hospital with the chief complaints of fever, shortness of breath, and generalized myalgia. He was unfortunately found to be severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positive. Laboratory findings showed creatine kinase (CK) >42,670 U/L along with elevated inflammatory markers and unremarkable creatinine, cardiac troponin level. Read More

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http://dx.doi.org/10.7759/cureus.8074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290109PMC

ICU-acquired weakness.

Clin Nutr 2020 Jun 1. Epub 2020 Jun 1.

Department of Life Sciences, National Natural Science Foundation of China, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.clnu.2020.05.036DOI Listing

Effects of Hemoadsorption with CytoSorb during Severe Rhabdomyolysis.

Blood Purif 2020 Jun 12:1-2. Epub 2020 Jun 12.

Cardiac Arrest Center, Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany,

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http://dx.doi.org/10.1159/000508277DOI Listing

Bodybuilding supplements leading to copper toxicity, encephalopathy, fulminant hepatic failure and rhabdomyolysis.

Am J Emerg Med 2020 Jun 2. Epub 2020 Jun 2.

Department of Emergency Medicine, United States of America; Division of Toxicology, University of California Davis Medical Center, Sacramento, CA, United States of America.

Millions of people worldwide use nutritional and dietary supplements, such as vitamins and minerals. These and other performance-enhancing substances are also used by high school, college, and professional athletes, bodybuilders, and amateur sports enthusiasts. The constituents of these supplements and their metabolites may be harmful and not listed on the product label. Read More

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http://dx.doi.org/10.1016/j.ajem.2020.05.096DOI Listing

Rhabdomyolysis.

Dis Mon 2020 Aug 10;66(8):101015. Epub 2020 Jun 10.

Clinical Professor of Medicine, Section of Nephrology, University of Illinois at Chicago College of Medicine/Advocate Christ Medical Center, Oak Lawn, Illinois.

Rhabdomyolysis is caused by the breakdown and necrosis of muscle tissue and the release of intracellular content into the blood stream. There are multiple and diverse causes of rhabdomyolysis but central to the pathophysiology is the destruction of the sarcolemmal membrane and release of intracellular components into the systemic circulation. The clinical presentation may vary, ranging from an asymptomatic increase in serum levels of enzymes released from damaged muscles to worrisome conditions such as volume depletion, metabolic and electrolyte abnormalities, and acute kidney injury (AKI). Read More

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http://dx.doi.org/10.1016/j.disamonth.2020.101015DOI Listing

Does melamine exposure during infancy cause rhabdomyolysis?

Biotech Histochem 2020 Jun 12:1-9. Epub 2020 Jun 12.

Department of Medical Biochemistry, Faculty of Medicine, Giresun University , Giresun, Turkey.

We investigated the possible toxic effects of melamine on muscle tissue in rats using biochemical, hematological and histopathological methods. We used three groups of female albino Wistar rats. The first group was given 0. Read More

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http://dx.doi.org/10.1080/10520295.2020.1772506DOI Listing

Detection of hypoglycin A and MCPA-carnitine in equine serum and muscle tissue: optimisation and validation of a LC-MS based method without derivatisation.

Equine Vet J 2020 Jun 11. Epub 2020 Jun 11.

Comparative Neuromuscular Diseases Laboratory, The Royal Veterinary College, London, NW1 0TU, UK.

Background: Measurement of hypoglycin A (HGA) and its toxic metabolite, methylenecyclopropylacetic acid (MCPA), in equine serum confirms a diagnosis of atypical myopathy (AM), a pasture-associated toxic rhabdomyolysis with high mortality linked to the ingestion of Acer trees plant material. Supportive diagnostic tests include plasma acyl-carnitine profiling and urine organic acid testing, but these are not specific for AM. Previously reported HGA and MCPA analytical techniques used liquid chromatography-mass spectrometry (LC-MS) with a derivatising step, but the latter prolongs testing and increases costs. Read More

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http://dx.doi.org/10.1111/evj.13303DOI Listing

A RARE CASE OF STATIN-INDUCED NECROTIZING AUTOIMMUNE MYOPATHY.

AACE Clin Case Rep 2020 Mar-Apr;6(2):e86-e89. Epub 2020 Jan 22.

Objective: Necrotizing autoimmune myopathy (NAM) is a rare side-effect of statin therapy. We report the case of a patient who developed statin-induced NAM with a review of the clinical presentation and management of this rare entity. The case illustrates the importance of including NAM in the differential diagnosis of persistent myopathy in a statin-exposed individual. Read More

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http://dx.doi.org/10.4158/ACCR-2019-0547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282149PMC
January 2020

First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.

Neuromuscul Disord 2020 May 21. Epub 2020 May 21.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed in 1/3 of patients. Here we present two cases of acute rhabdomyolysis with a milder phenotype caused by LPIN1 mutation presenting in adolescence (11 years old) and adulthood (40 years old) after Parvovirus infection and metabolic stress, respectively. Read More

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http://dx.doi.org/10.1016/j.nmd.2020.05.004DOI Listing

Cumulative non-HDL-cholesterol burden in patients with hypertriglyceridemia receiving long-term fibrate therapy: Real life data from a lipid clinic cohort.

Turk Kardiyol Dern Ars 2020 Jun;48(4):359-367

Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey.

Objective: Though epidemiological data suggest that an elevated triglyceride (TG) level may be a risk factor for coronary artery disease (CAD), there is still insufficient clinical evidence. This study was designed to evaluate the real-life efficacy and side effects of fibrate treatment for hypertriglyceridemia seen in a lipid clinic, as well as cardiovascular and diabetic outcomes.

Methods: This retrospective study evaluated patients who were followed-up for a diagnosis of hypertriglyceridemia at the lipid outpatient clinic of the Ege University Cardiology Department between 1997 and 2018. Read More

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http://dx.doi.org/10.5543/tkda.2019.25169DOI Listing

Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

Saudi Med J 2020 Jun;41(6):590-596

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

Objectives: To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.   Methods: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at  (Genetic/Metabolic Section), Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from 2000 to 2019. Demographic, clinical, and laboratory data were abstracted from the electronic hospital records using a case report form. Read More

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http://dx.doi.org/10.15537/smj.2020.6.25131DOI Listing

Arboviruses and Muscle Disorders: From Disease to Cell Biology.

Viruses 2020 Jun 5;12(6). Epub 2020 Jun 5.

Unit of Epidemiology and Physiopathology of Oncogenic Viruses, Institut Pasteur, 75015 Paris, France.

Infections due to arboviruses (arthropod-borne viruses) have dramatically increased worldwide during the last few years. In humans, symptoms associated with acute infection of most arboviruses are often described as "dengue-like syndrome", including fever, rash, conjunctivitis, arthralgia, and muscular symptoms such as myalgia, myositis, or rhabdomyolysis. In some cases, muscular symptoms may persist over months, especially following flavivirus and alphavirus infections. Read More

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http://dx.doi.org/10.3390/v12060616DOI Listing

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.

Mol Genet Metab Rep 2020 Sep 30;24:100610. Epub 2020 May 30.

Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.

Mitochondrial trifunctional protein (TFP) deficiency is a rare inherited metabolic disorder caused by defects in fatty acid β-oxidation (FAO) of long-chain fatty acids, leading to impaired energy production. Fasting avoidance, fatty acid-restricted diets, and supplementation with medium-chain triglycerides are recommended as a treatment, but there are no pharmaceutical treatments available with strong evidence of efficacy. Bezafibrate, which enhances the transcription of FAO enzymes, is a promising therapeutic option for FAO disorders (FAODs). Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264074PMC
September 2020

Patterns of transaminase elevation in rhabdomyolysis versus acetaminophen toxicity.

Am J Emerg Med 2020 Apr 21. Epub 2020 Apr 21.

Department of Emergency Medicine, Division of Medical Toxicology, Virginia Commonwealth University Health System, Richmond, VA, United States of America. Electronic address:

Background: Transaminase elevations can occur from liver injury or in the setting of rhabdomyolysis. The goal of this study is to evaluate indices that could differentiate acetaminophen toxicity from muscle injury in the setting of transaminase elevations.

Methods: A retrospective chart review of consecutive cases reported to our regional poison center. Read More

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http://dx.doi.org/10.1016/j.ajem.2020.04.061DOI Listing

Muscle biopsy: what and why and when?

Pract Neurol 2020 Jun 5. Epub 2020 Jun 5.

Department of Cellular Pathology, University Hospital of Wales, Cardiff, UK

Skeletal muscle biopsy remains an important investigative tool in the diagnosis of a variety of muscle disorders. Traditionally, someone with a limb-girdle muscle weakness, myopathic changes on electrophysiology and raised serum creatine kinase (CK) would have a muscle biopsy. However, we are living through a genetics revolution, and so do all such patients still need a biopsy? When should we undertake a muscle biopsy in patients with a distal, scapuloperoneal or other patterns of muscle weakness? When should patients with myositis, rhabdomyolysis, myalgia, hyperCKaemia or a drug-related myopathy have a muscle biopsy? What does normal muscle histology look like and what changes occur in neurogenic and myopathic disorders? As with Kipling's six honest serving men, we hope that by addressing these issues we can all become more confident about when to request a muscle biopsy and develop clearer insights into muscle pathology. Read More

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http://dx.doi.org/10.1136/practneurol-2019-002465DOI Listing

Compartment syndrome of the leg after thyroid hormone withdrawal; two cases and a systematic review of the literature.

BMC Endocr Disord 2020 Jun 5;20(1):80. Epub 2020 Jun 5.

Department of Orthopedic and Trauma Surgery, Luzerner Kantonsspital Luzern, P.O. Box, Spitalstrasse, 6000, Lucerne, Switzerland.

Background: Acute compartment syndrome is a rare complication of severe hypothyroidism. If the symptoms are not recognized promptly and treatment initiated immediately, there is a high risk of permanent damage. Only few other cases of compartment syndrome due to hypothyroidism have been published and the exact pathophysiological mechanism remains unknown. Read More

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http://dx.doi.org/10.1186/s12902-020-00555-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275613PMC

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice.

J Biol Chem 2020 Jun 4. Epub 2020 Jun 4.

Basel University Hospital, Switzerland.

Mutations in the ryanodine receptor 1 (RYR1) gene are associated with several human congenital myopathies including the dominantly inherited central core disease and exercise- induced rhabdomyolysis and the more severe recessive phenotypes including multiminicore disease, centronuclear myopathy and congenital fiber type disproportion. Within the latter group, those carrying a hypomorphic mutation in one allele and a missense mutation in the other are the most severely affected. Because of nonsense-mediated decay, most hypomorphic alleles are not expressed, resulting in homozygous expression of the missense mutation allele. Read More

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http://dx.doi.org/10.1074/jbc.RA120.013846DOI Listing

Rhabdomyolysis: Foreword.

Authors:

Dis Mon 2020 Aug 2;66(8):101014. Epub 2020 Jun 2.

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http://dx.doi.org/10.1016/j.disamonth.2020.101014DOI Listing

Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.

J Intensive Care Soc 2020 May 18;21(2):165-173. Epub 2019 Dec 18.

Critical Care Unit, West Suffolk Hospital, NHS Foundation Trust, Bury St Edmunds, UK.

Carnitine palmitoyltransferase 2 deficiency is an inherited metabolic disorder involving a deficiency in a mitochondrial enzyme necessary for long chain fatty acid oxidation, and therefore decreased utilisation of fatty acids. The adult form of this condition leads to recurrent rhabdomyolysis triggered by exercise, fasting and infection. It is a very rare condition with only a few hundred reported cases worldwide. Read More

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http://dx.doi.org/10.1177/1751143719889766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238476PMC

Pediatric Rhabdomyolysis.

Authors:
Heidi S Szugye

Pediatr Rev 2020 Jun;41(6):265-275

Cleveland Clinic Children's, Cleveland Clinic Lerner College of Medicine, Cleveland, OH.

Pediatric rhabdomyolysis is a common diagnosis that pediatricians need to be able to recognize because prompt treatment can prevent potential complications, such as acute kidney injury. The triggers for rhabdomyolysis are extensive, with viruses being the most common cause in pediatric patients. The pathophysiology behind rhabdomyolysis is complex and still being researched, but having a firm understanding of the cascade that results when muscle injury occurs is essential for proper management. Read More

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http://dx.doi.org/10.1542/pir.2018-0300DOI Listing

Fenofibrate monotherapy-induced rhabdomyolysis in a patient with post-pancreatitis diabetes mellitus: A rare case report and a review of the literature.

Medicine (Baltimore) 2020 May;99(21):e20390

Department of Hematology of Lu'an People's Hospital, The Lu'an Affiliated Hospital of Anhui Medical University, Lu'an, Anhui, China.

Rationale: Fibrates are widely used to control hypertriglyceridemia and mixed dyslipidemia alone or in combination with statins. These drugs have rare, but severe and potentially vital adverse reactions of rhabdomyolysis and secondary acute renal failure (ARF). The objective of this article is to analyze this adverse effect of fibrates and ensure the safety of drug use. Read More

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http://dx.doi.org/10.1097/MD.0000000000020390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250032PMC

Mob Justice in South Africa: A comparison of blunt trauma secondary to community and non-community assaults.

Injury 2020 May 22. Epub 2020 May 22.

University of KwaZulu Natal, Pietermaritzburg, KwaZulu Natal, South Africa; University of Witwatersrand, Johannesburg, Gauteng, South Africa. Electronic address:

Background: The phenomenon of extrajudicial "mob justice" and community assault (CA) has been documented in news reports and anecdotes from a number of low- and middle-income countries, but there is little literature on its burden on trauma systems. This study reviews a single center's management of CA victims and compares the spectrum of injuries seen following mob assault with those sustained via other forms of interpersonal violence (IPV).

Methods: Clinical data, injury details, and mortality among injured patients (age≥18) hospitalized in a South African tertiary referral center from 2012-2018 were abstracted. Read More

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http://dx.doi.org/10.1016/j.injury.2020.04.014DOI Listing
May 2020
2.137 Impact Factor