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https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#1
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...
December 9, 2017: 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
#2
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...
November 24, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29147573/risk-factors-for-exertional-rhabdomyolysis-with-renal-stress
#3
Terje Apeland, Tore Danielsen, Eva M Staal, Anders Åsberg, Inga S Thorsen, Tom Ole Dalsrud, Stein Ørn
Background: Exercise-induced rhabdomyolysis denotes the exertional damage of myocytes with leakage of sarcoplasmic content into the circulation. The purpose of this study was to determine important risk factors for the development of exertional rhabdomyolysis in a temperate climate and to study the renal effects of myoglobinuria. Methods: A cluster of eight military recruits was admitted to hospital due to exertional rhabdomyolysis with myoglobinuria. The patients were treated according to current guidelines with isotonic saline and alkalinisation of the urine...
2017: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/29135163/exercise-induced-rhabdomyolysis-a-patient-series
#4
Kiarash Tazmini, Christoffer Schreiner, Sidsel Bruserud, Truls Raastad, Erik Ekker Solberg
No abstract text is available yet for this article.
November 14, 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/29079705/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy
#5
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters...
October 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28992847/-rhabdomyolysis-after-isotretinoin-treatment-in-a-17-year-old-male
#6
Cecilie Paulsrud, Ida-Marie Stender, Lisbeth Samsø Schmidt
Rhabdomyolysis is a rare, but known complication to treat-ment with systemic isotretinoin in patients with acne and can lead to severe kidney damage. In our case report a 17-year-old male, exercising moderately, developed rhab-domyolysis without kidney injury after two-month treatment with isotretinoin 20 mg daily. He complained of some muscle pain and was treated according to guidelines for rhabdomyolysis with no sequelae. Frequent monitoring of muscle complaints and control of serum creatine kinase in patients with affected liver and kidney function is essential...
October 2, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28955688/acute-compartment-syndrome-which-causes-rhabdomyolysis-by-carbon-monoxide-poisoning-and-sciatic-nerve-injury-associated-with-it-a-case-report
#7
Jung-Woo Ji
Rhabdomyolysis is most frequently caused by soft tissue injury with trauma to the extremities. Non-traumatic rhabdomyolysis may be caused by alcohol or drug abuse, infection, collagen disease, or intensive exercise, but incidence is low. In particular, rhabdomyolysis resulting from carbon monoxide poisoning is especially rare. If caught before death, carbon monoxide poisoning has been shown to cause severe muscle necrosis and severe muscle damage leading to acute renal failure. In cases of carbon-monoxide-induced rhabdomyolsis leading to acute compartment syndrome in the buttocks and sciatic nerve injury are rare...
September 2017: Hip & Pelvis
https://www.readbyqxmd.com/read/28936956/-epidemiology-characteristics-of-crawfish-related-rhabdomyolysis-in-nanjing-2016-a-multicenter-retrospective-investigation
#8
Shaolei Ma, Changsheng Xu, Songqiao Liu, Zongfeng Hu, Wen'ge Liu, Jinsong Zhang, Xufeng Chen, Shinan Nie, Jun Zhang, Dujuan Sha, Jinjin Li, Haibin Ni, Haidong Qin, Ying Gao, Wei Wang, Chengfang Wu, Zhan Yu, Congjian Zhu
OBJECTIVE: To investigate the epidemiology characteristics of crawfish related rhabdomyolysis (RM) in Nanjing, 2016. METHODS: Outpatient and inpatient electronic medical system of 21 hospitals in Nanjing during 2016 were retrospectively searched, and all the patients diagnosed with RM were selected. The patients with none crayfish-related RM was excluded. The epidemiology characteristics were depicted. The geographic information system (GIS) was used to collect, manage and analyze the spatial data, to visualize it, to analyze the spatial distribution features of the disease, and to explore the cause of disease prediction...
September 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28887083/pres-leading-to-the-diagnosis-of-mcardle-disease
#9
Jennifer M Martinez-Thompson, Sean J Pittock, Margherita Milone
A 35year-old male developed myalgias after moving furniture and was hospitalized with acute renal failure and rhabdomyolysis requiring hemodialysis. He then had several generalized tonic-clonic seizures. Brain MRI showed findings of posterior reversible encephalopathy syndrome (PRES). Interval history revealed easy fatigability and exercise-induced myalgias in childhood but no preceding history of urine discoloration. Quadriceps biopsy showed absent muscle myophosphorylase reactivity consistent with the diagnosis of McArdle disease...
December 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28882528/impaired-glycogen-breakdown-and-synthesis-in-phosphoglucomutase-1-deficiency
#10
Nicolai Preisler, Jonathan Cohen, Christoffer Rasmus Vissing, Karen Lindhardt Madsen, Katja Heinicke, Lydia Jane Sharp, Lauren Phillips, Nadine Romain, Sun Young Park, Marta Newby, Phil Wyrick, Pedro Mancias, Henrik Galbo, John Vissing, Ronald Gerald Haller
OBJECTIVE: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis. METHODS: We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response...
August 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28871440/triheptanoin-versus-trioctanoin-for-long-chain-fatty-acid-oxidation-disorders-a-double-blinded-randomized-controlled-trial
#11
Melanie B Gillingham, Stephen B Heitner, Julie Martin, Sarah Rose, Amy Goldstein, Areeg Hassan El-Gharbawy, Stephanie Deward, Michael R Lasarev, Jim Pollaro, James P DeLany, Luke J Burchill, Bret Goodpaster, James Shoemaker, Dietrich Matern, Cary O Harding, Jerry Vockley
BACKGROUND: Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages over traditional medium-chain triglyceride (MCT) treatment of long-chain fatty acid oxidation disorders (LC-FAODs) but controlled trials have not been reported. The goal of our study was to compare the effects of triheptanoin (C7), an anaplerotic seven-carbon fatty acid triglyceride, to trioctanoin (C8), an eight-carbon fatty acid triglyceride, in patients with LC-FAODs...
November 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28839121/dietary-supplement-drug-interaction-induced-serotonin-syndrome-progressing-to-acute-compartment-syndrome
#12
Yesha A Patel, Nino Marzella
BACKGROUND Dietary supplements have been associated with an increase in emergency intervention as a result of unexpected adverse events. Limited resources and information on significant drug-drug interactions with dietary supplements and prescription medications have contributed to associated complications and unexpected events. We present the case of a patient who consumed multiple prescription medications and dietary supplements which resulted in significant complications. CASE REPORT A 28-year-old man presented to the Emergency Department complaining of severe calf pain after exercising...
August 25, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28828083/increased-prevalence-of-the-il-6-174c-genetic-polymorphism-in-long-distance-swimmers
#13
Sigal Ben-Zaken, Yoav Meckel, Dan Nemet, Eias Kassem, Alon Eliakim
The IL-6 -174G/C single nucleotide polymorphism (SNP) functionally affects IL-6 activity, with the G-allele associated with increased IL-6 levels. The C-allele was found to be associated with exercise-induced skeletal muscle damage. The aim of the present study was to examine the association between the IL-6 -174G/C polymorphism and athletic performance among elite swimmers and runners. The study sample included 180 track and field athletes and 80 swimmers. Track and field athletes were assigned to three sub-groups: long-distance runners, middle-distance runners and short-distance runners...
September 2017: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28827517/rhabdomyolysis-in-a-patient-with-severe-hypothyroidism
#14
Nooshin Salehi, Endre Agoston, Iqbal Munir, Gary J Thompson
BACKGROUND Muscular symptoms, including stiffness, myalgia, cramps, and fatigue, are present in the majority of the patients with symptomatic hypothyroidism, but rhabdomyolysis, the rapid breakdown of skeletal muscle, is a rare manifestation. In most patients with hypothyroidism who develop rhabdomyolysis, precipitating factors, such as strenuous exercise or use of lipid-lowering drugs, can be identified. CASE REPORT We report a case of a 52-year-old Hispanic woman with a history of hypothyroidism, hypertension, and type 2 diabetes mellitus who presented with fatigue, severe generalized weakness, bilateral leg pain, and recurrent falls...
August 22, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28810996/rhabdomyolysis-after-crawling-military-training
#15
Danit Atias-Varon, Haggai Sherman, Ran Yanovich, Yuval Heled
INTRODUCTION: Rhabdomyolysis is a syndrome characterized by muscle necrosis followed by release of intracellular muscle contents into the circulation. Exertional rhabdomyolysis (ER) occurs in response to nonfamiliar and/or excessive, prolonged, or repetitive exercises, with eccentric characteristics. In military populations, due to the type of intense, all out physical loads, ER is a significant threat, particularly when training under heat stress. However, many other etiologies exist, and clinical presentations vary greatly...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28801956/evidence-of-er-stress-and-upr-activation-in-patients-with-brody-disease-and-brody-syndrome
#16
V Guglielmi, N C Voermans, A Oosterhof, D Nowis, B G van Engelen, G Tomelleri, G Vattemi
Brody disease (BD, OMIM #601003) is an inherited skeletal muscle disease clinically characterized by exercise-induced impairment of muscle relaxation and stiffness due to the delay in the Ca(2+) re-uptake in the sarcoplasmic reticulum (SR)[1, 2]. The delayed muscle relaxation mainly affects legs, harms, hands and eyelids and usually improves after a few minutes rest [1-3]. Patients frequently report myalgia, painless or mildly painful cramps whereas recurrent rhabdomyolysis have been described in a few cases [2, 3]...
August 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28727638/exertional-and-crossfit-induced-rhabdomyolysis
#17
Michelle Meyer, Sneha Sundaram, Ingeborg Schafhalter-Zoppoth
Few publications of exercise-induced rhabomyolysis currently exist in the medical literature besides case reports. However, this condition can be severe, resulting in hospitalization and IV fluid administration to prevent serious sequelae. This report describes a case of exercise-induced rhabdomyolysis caused by a CrossFit workout. A 31-year-old female presented with 2 days of bilateral upper extremity pain and soreness, which began 2 days after she completed a CrossFit workout. Workup revealed an elevated creatine phosphokinase (CPK) of 18 441 U/L, consistent with exercise-induced rhabdomyolysis, and elevated liver function tests and elevated D-dimer, although her renal function was normal...
July 14, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28692495/the-clinical-significance-of-technetium-99m-methylene-diphosphonate-bone-scintigraphy-findings-in-patients-with-rhabdomyolysis
#18
Jeong Won Lee, Eun-Young Lee, Sae-Yong Hong, Ik Dong Yoo, Sang Mi Lee
OBJECTIVE: This study evaluated the relationship between bone scintigraphy finding and clinical factors and assessed the prognostic value of bone scintigraphy finding in patients with rhabdomyolysis. PATIENTS AND METHODS: We retrospectively enrolled 143 patients with rhabdomyolysis who had undergone bone scintigraphy. Bone scintigraphy was classified into three groups: no or equivocal soft tissue uptake, a localized uptake, and a diffuse uptake. The relationship of bone scintigraphy findings with clinical factors was evaluated...
October 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28680521/a-case-of-exercise-induced-rhabdomyolysis-from-calf-raises
#19
Jeffrey Gardecki, Henry Schuitema, James Espinosa, Alan Lucerna
No abstract text is available yet for this article.
2017: World Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28664257/running-out-of-options-rhabdomyolysis-associated-with-cannabis-hyperemesis-syndrome
#20
Bernard E Trappey, Andrew P J Olson
Cannabis hyperemesis syndrome (CHS) is a condition in which some patients with long-term, frequent use of cannabis paradoxically develop recurrent episodes of nausea and vomiting. The pathophysiology underlying this condition is poorly understood, as is the explanation for its common association with patients' discovery that hot-water bathing alleviates symptoms. We describe the case of a 24-year-old male with daily marijuana use and a history of CHS who was found to have rhabdomyolysis induced by a period of 15 h of continuous jogging after he discovered that this activity helped to alleviate his symptoms...
June 29, 2017: Journal of General Internal Medicine
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