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https://www.readbyqxmd.com/read/29893586/case-study-fatal-exertional-rhabdomyolysis-possibly-related-to-drastic-weight-cutting
#1
Kadhiresan R Murugappan, Michael N Cocchi, Somnath Bose, Sara E Neves, Charles H Cook, Todd Sarge, Shahzad Shaefi, Akiva Leibowitz
Rapid weight loss or "weight cutting" is a dangerous practice that is ubiquitous in modern combat sports yet underrepresented in the medical literature. We present a case of exertional rhabdomyolysis in a mixed martial artist with sickle cell trait in order to illustrate the hazards of weight cutting and ensuing critical illness. Sickle cell trait is known to predispose patients to exertional rhabdomyolysis and multiple fatal cases have been reported in the setting of strenuous exercise. Dehydration and consequent electrolyte abnormalities make combat sport athletes with sickle cell trait particularly vulnerable to this entity...
June 12, 2018: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/29882869/mitochondrial-fatty-acid-oxidation-disorders-associated-with-short-chain-enoyl-coa-hydratase-echs1-deficiency
#2
REVIEW
Alice J Sharpe, Matthew McKenzie
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome...
May 23, 2018: Cells
https://www.readbyqxmd.com/read/29861559/an-observational-epidemiological-study-of-exercise-induced-rhabdomyolysis-causing-acute-kidney-injury-a-single-center-experience
#3
W L Jabur, P Nasa, K A Mohammed, A Kulkarni, S N Tomaraei
Exercise-induced rhabdomyolysis (EIR) is an uncommon cause of severe rhabdomyolysis and a very rare cause of acute kidney injury (AKI). A prospective observational study of 25 patients diagnosed with EIR was conducted in a multispecialty hospital in Dubai, from 2009 to 2015. Five out of 25 patients experienced AKI necessitating temporary renal replacement therapy. The initial presentation, biochemical parameters, and clinical course of patients were monitored, to understand epidemiology and risk factors for the development of AKI...
March 2018: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29750650/exertional-rhabdomyolysis-in-carbonic-anhydrase-12-deficiency
#4
Dekel Avital, Eli Hershkovitz, Neta Loewenthal
BACKGROUND: Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy. CASE PRESENTATION: We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29744303/recurrent-rhabdomyolysis-caused-by-carnitine-palmitoyltransferase-ii-deficiency-common-but-under-recognised-lessons-to-be-learnt
#5
M Balasubramanian, T M Jenkins, R J Kirk, I M Nesbitt, S E Olpin, M Hill, G T Gillett
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29734573/hyperbaric-oxygen-therapy-as-treatment-for-bilateral-arm-compartment-syndrome-after-crossfit-case-report-and-literature-review
#6
Adriano Fernando Mendes, José da Mota Neto, Erica Maciel Heringer, Leandro Furtado de Simoni, Diego Demolinari Pires, Pedro José Labronici
Introduction: CrossFit is a physical fitness program characterized by high-intensity workouts that can be associated with serious injury. Acute compartment syndrome in the upper limbs is a rare occurrence. It may occur after intense physical exercise, and its usual treatment is surgical. Hyperbaric oxygen therapy is a treatment described as adjunctive in cases of compartmental syndrome. Presentation: We describe the case of a CrossFit practitioner who, after intense training, developed progressive symptoms of rhabdomyolysis and acute bilateral arm compartment syndrome, who was successfully treated with hyperbaric oxygen therapy and required no fasciotomy as surgical treatment...
March 2018: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#7
Nikola Gjorgjievski, Pavlina Dzekova-Vidimliski, Zvezdana Petronijevic, Gjulsen Selim, Petar Dejanov, Liljana Tozija, Aleksandar Sikole
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness. CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured)...
April 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29680796/cluster-of-exertional-rhabdomyolysis-in-three-young-women
#8
Fiona Mitchell, Hazel J Henderson, Faith Gardner
Three young women, aged 18-24 years, presented to general practice with signs and symptoms of exertional rhabdomyolysis in 2016. All attended the same gym and had undertaken an intensive physical workout. Presenting symptoms were severe muscle pain and swelling, significantly reduced range of motion in affected muscles and, in two cases, dark-coloured urine. One case had presented to the out-of-hours service 4 months previously with similar symptoms but rhabdomyolysis was not considered, although retrospective history taking suggests that was the likely diagnosis...
April 21, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29628970/acute-kidney-injury-in-pediatric-patients-with-rhabdomyolysis
#9
Young Shin Lim, Heeyeon Cho, Sang Taek Lee, Yeonhee Lee
Purpose: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children. Methods: Medical records of 39 Korean children, who were newly diagnosed with rhabdomyolysis from January 2008 to December 2015, were retrospectively analyzed. The diagnosis was made from the medical history, elevated serum creatinine kinase level >1,000 IU/L, and plasma myoglobin level >150 ng/mL...
March 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29619805/using-blood-lactate-concentration-to-predict-muscle-damage-and-jump-performance-response-to-maximal-stretch-shortening-cycle-exercise
#10
Vladimir Manojlović, Frane Erčulj
BACKGROUND: It is well known that eccentric muscle contractions induce delayed onset muscle soreness (DOMS) and exertional rhabdomyolysis (ERB), both of which are related to high blood levels of muscle damage markers after exercise. Creatine kinase (CK) is, together with some other markers (e.i. myoglobin, α-actin, skeletal troponin), widely used in determination of muscle damage. Moreover, DOMS after eccentric exercise has been shown to be associated with altered blood lactate concentration after subsequent submaximal or maximal cycling exercise...
April 4, 2018: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/29560763/pre-and-peripartal-management-of-a-woman-with-mcardle-disease-a-case-report
#11
Tina Stopp, Michael Feichtinger, Wolfgang Eppel, Thomas M Stulnig, Peter Husslein, Christian Göbl
McArdle disease or glycogen storage disease (GSD) type V is a rare autosomal recessive inherited disorder in skeletal muscle metabolism leading to exercise intolerance, muscle cramps and in some cases to rhabdomyolysis and acute renal failure due to elevated serum myoglobin levels. Albeit the uterine smooth muscle is not affected, pregnancy and delivery can be physically strenuous and may require specific anesthesiologic care. However, data on pregnancy progress and outcome and on special implications linked to anesthesia in women with McArdle's disease is scarce, thus posing a challenge to pre- and peripartal management...
March 21, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29502916/inborn-errors-of-metabolism-with-myopathy-defects-of-fatty-acid-oxidation-and-the-carnitine-shuttle-system
#12
REVIEW
Areeg El-Gharbawy, Jerry Vockley
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29500137/haematuria-in-sport-a-review
#13
REVIEW
Richard Deji Akiboye, Davendra M Sharma
CONTEXT: Haematuria is a common urological presentation associated with patient anxiety and clinically relevant underlying pathology. However, the prevalence and pathophysiology of haematuria following sporting exercise is less well documented. OBJECTIVES: This review paper seeks to clarify the prevalence of microscopic and macroscopic haematuria in association with sporting exercise reported in the literature, and the pathophysiology behind it. We review the relation of haematuria to injury to the urinary tract in sport, as well as the incidence of underlying disease, urological and incidental, following investigation for exercise-induced haematuria...
February 27, 2018: European Urology Focus
https://www.readbyqxmd.com/read/29491033/a-nonsense-variant-in-the-acadvl-gene-in-german-hunting-terriers-with-exercise-induced-metabolic-myopathy
#14
Vincent Lepori, Franziska Mühlhause, Adrian C Sewell, Vidhya Jagannathan, Nils Janzen, Marco Rosati, Filipe Miguel Maximiano Alves de Sousa, Aurélie Tschopp, Gertraud Schüpbach, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Marion Kornberg
Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by clinical signs of exercise induced weakness, muscle pain, and suspected rhabdomyolysis. The combination of clinical signs, muscle histopathology and acylcarnitine analysis with an elevated tetradecenoylcarnitine (C14:1) peak suggested a possible diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)...
May 4, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29420397/exercise-induced-abdominal-wall-muscle-injury-resulting-in-rhabdomyolysis-and-mimicking-an-acute-abdomen
#15
Charlene G Echague, John M Csokmay
BACKGROUND: Rhabdomyolysis is characterized by muscle necrosis and release of intracellular constituents, causing muscle pain, weakness, and myoglobinuria. This can be attributed to muscle injury after strenuous exercise. If the abdominal wall is involved, clinical presentation may resemble an acute abdomen. CASE: A 27-year-old woman, gravida 4 para 2, presented with swelling and pain of the mons pubis and abdominal pain after intense powerlifting 2 days prior. A computed tomography scan was performed, revealing abdominal wall inflammation...
March 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29391358/wave-of-renal-impairment
#16
Helena Pinto, Ana Catarina Teixeira, Nuno Oliveira, Rui Alves
We present a case of a 51-year-old man who went to the emergency department after an almost-drowning episode, presenting with muscular weakness, myalgia and dark urine. Laboratory data showed a severe rhabdomyolysis (creatine kinase 497 510 U/L). Despite aggressive fluid therapy, an oliguric acute kidney injury was established with temporary need of haemodialysis. The patient had a longtime history of exercise intolerance and family history of a metabolic myopathy, namely a sister with McArdle's disease...
February 1, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29325813/cardiac-function-and-exercise-adaptation-in-8-children-with-lpin1-mutations
#17
Antoine Legendre, Diala Khraiche, Phalla Ou, François-Xavier Mauvais, Marine Madrange, Anne-Sophie Guemann, Jean-Philippe Jais, Damien Bonnet, Yamina Hamel, Pascale de Lonlay
INTRODUCTION: Lipin-1 deficiency is a major cause of rhabdomyolysis that are precipitated by febrile illness. The prognosis is poor, with one-third of patients dying from cardiac arrest during a crisis episode. Apart from acute rhabdomyolysis, most patients are healthy, showing normal clinical and cardiac ultrasound parameters. PATIENTS AND METHODS: We report cardiac and exercise examinations of 8 children carrying two LPIN1 mutations. The examinations were performed outside of a myolysis episode, but one patient presented with fever during one examination...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29318131/rhabdomyolysis-from-resistance-exercise-and-caffeine-intake
#18
Dong Jun Sung, Eun-Ju Choi, Sojung Kim, Jooyoung Kim
No abstract text is available yet for this article.
January 2018: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#19
REVIEW
James B Lilleker, Yann Shern Keh, Federico Roncaroli, Reena Sharma, Mark Roberts
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used...
February 2018: Practical Neurology
https://www.readbyqxmd.com/read/29171090/24-hour-kinetics-of-cardiac-troponin-t-using-a-high-sensitivity-assay-in-thoroughbred-chuckwagon-racing-geldings-after-race-and-associated-clinical-sampling-guidelines
#20
E Shields, I Seiden-Long, S Massie, R Leguillette
BACKGROUND: A "high-sensitivity" cardiac troponin-T (hscTnT) assay recently has been validated for use in horses and is a specific biomarker of myocardial damage. Postexercise release kinetics of cTnT utilizing the hscTnT assay have yet to be established in horses. OBJECTIVES: To determine: (1) cTnT release kinetics in racing Thoroughbreds after a high-intensity 5/8th mile Chuckwagon race; (2) the effects of age on pre- and postrace cTnT concentrations; and (3) sampling guidelines for clinicians evaluating horses presenting after exercise...
January 2018: Journal of Veterinary Internal Medicine
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