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Biljana Kuzmanovska, Emilija Cvetkovska, Igor Kuzmanovski, Nikola Jankulovski, Mirjana Shosholcheva, Andrijan Kartalov, Tatjana Spirovska
INTRODUCTION: Rhabdomyolysis is a syndrome of injury of skeletal muscles associated with myoglobinuria, muscle weakness, electrolyte imbalance and often, acute kidney injury as severe complication. THE AIM: of this study is to detect the incidence of rhabdomyolysis in critically ill patients in the surgical intensive care unit (ICU), and to raise awareness of this medical condition and its treatment among the clinicians. MATERIAL AND METHODS: A retrospective review of all surgical and trauma patients admitted to surgical ICU of the University Surgical Clinic "Mother Teresa" in Skopje, Macedonia, from January 1(st) till December 31(st) 2015 was performed...
July 27, 2016: Medical Archives
A Kollmann-Camaiora, E Alsina, A Domínguez, B Del Blanco, M J Yepes, J L Guerrero, A García
Malignant hyperthermia is a hypermetabolic syndrome that appears in susceptible patients after exposure to certain anaesthetic drugs (succinylcholine, inhalation anaesthetics). Its incidence in Spain is 1 in 40,000 adults, with a 10% mortality rate. It is induced by an abnormal regulation of the ryanodine receptors, producing a massive release of calcium from the sarcoplasmic reticulum in the striate muscle. Clinical manifestations include: CO2 increase, tachycardia, haemodynamic instability, metabolic and respiratory acidosis, profuse sweating, hyperpyrexia, CPK increase, myoglobinuria, kidney failure, disseminated intravascular coagulation (DIC), and ending in cardiac arrest...
September 12, 2016: Revista Española de Anestesiología y Reanimación
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
Tom Rosenberg, Shmuel Heitner, Dennis Scolnik, Einav Levin Ben-Adiva, Ayelet Rimon, Miguel Glatstein
OBJECTIVE: The aims of the study were to determine the evolution of benign acute childhood myositis in children and to assess the relationship between creatine phosphokinase (CPK) values and myoglobinuria. STUDY DESIGN: A retrospective study of patients with benign acute childhood myositis seen in 2 tertiary care university-affiliated pediatric hospitals during overlapping 4-year periods. METHODS: Demographic data, historical details, clinical, and laboratory results were extracted from the charts of children younger than 16 years with a CPK greater than 3 times normal...
August 20, 2016: Pediatric Emergency Care
Sarah Manspeaker, Kelley Henderson, Dru Riddle
BACKGROUND: Exertional rhabdomyolysis (ER) is the breakdown of skeletal muscle tissue following intense physical activity that results in impairment of the cell membrane, which allows intracellular contents to be released into the bloodstream. Signs and symptoms include myalgia, myoglobinuria and increased creatine kinase (CK) levels. Athletes are vulnerable to this condition due to their increased level of physical activity. The severity and effects of this condition vary between individuals; however, all athletes are at risk of significant muscle damage, renal failure and perhaps death if not recognized and treated quickly...
June 2016: JBI Database of Systematic Reviews and Implementation Reports
Jane McNicholl, Gordon S Howarth, Susan J Hazel
Heat strain is a potential risk factor for racing greyhounds in hot climates. However, there have been limited studies into the incidence of heat strain (when excess heat causes physiological or pathological effects) in racing greyhounds. The aim of this study was to determine if heat strain occurs in racing greyhounds, and, if so, whether environmental factors (e.g., ambient temperature and relative humidity) or dog-related factors (e.g., sex, bodyweight, color) are associated with the risk of heat strain...
2016: Frontiers in Veterinary Science
Balaji Krishnaiah, Jennifer Jheesoo Lee, Matthew Paul Wicklund, Divpreet Kaur
INTRODUCTION: The sarcoglycanopathies are a heterogeneous group of autosomal recessive limb-girdle muscular dystrophies that cause varying degrees of progressive proximal muscle weakness. METHODS: We describe the case of a Caucasian girl who presented with exercise intolerance, myalgia, and dark urine. Onset of symptoms was at age 4, and she had myalgia with physical activity throughout childhood. Creatine kinase levels were as high as 18,000. RESULTS: Immunostaining of a muscle biopsy showed mildly diminished alpha sarcoglycan staining, and SGCA gene sequencing revealed n...
June 2016: Muscle & Nerve
Giulia Ricci, Federica Bertolucci, Annalisa Logerfo, Costanza Simoncini, Riccardo Papi, Ferdinando Franzoni, Giacomo Dell'Osso, Adele Servadio, Maria Chiara Masoni, Gabriele Siciliano
McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps, pain and recurrent episodes of myoglobinuria. Many patients experience the second wind phenomenon, characterized by an improved tolerance for aerobic exercise approximately after eight minutes of motor activity, secondary to the increased availability of blood glucose and free fatty acids associated to an enhanced glucose uptake by muscle cells...
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
Colin Yl Woon, Kushal R Patel, Benjamin A Goldberg
Gluteal compartment syndrome (GCS) is a rare condition. We present a case of gluteal muscle strain with hematoma formation, methicillin-resistant Staphylococcus aureus (MRSA) superinfection, leading to acute GCS, rhabdomyolysis and acute kidney injury. This combination of diagnoses has not been reported in the literature. A 36-year-old Caucasian male presented with buttock pain, swelling and fever after lifting weights. Gluteal compartment pressure was markedly elevated compared with the contralateral side...
May 18, 2016: World Journal of Orthopedics
Mario Meola, Sara Samoni, Ilaria Petrucci, Claudio Ronco
Acute tubular necrosis (ATN) is the most common type of acute kidney injury (AKI) related to parenchymal damage (90% of cases). It may be due to a direct kidney injury, such as sepsis, drugs, toxins, contrast media, hemoglobinuria and myoglobinuria, or it may be the consequence of a prolonged systemic ischemic injury. Conventional ultrasound (US) shows enlarged kidneys with hypoechoic pyramids. Increased volume is largely sustained by the increase of anteroposterior diameter, while longitudinal axis usually maintains its normal length...
2016: Contributions to Nephrology
Leila Motlagh, Ralph Golbik, Wolfgang Sippl, Stephan Zierz
OBJECTIVE: Muscle carnitine palmitoyltransferase (CPT) II deficiency, the most common defect of lipid metabolism in muscle, is characterized by attacks of myoglobinuria without persistent muscle weakness. METHODS: His6-N-hCPT2 (wild-type) and His6-N-hCPT2/S113L (variant) were produced recombinantly in prokaryotic host and characterized according to their functional and regulatory properties. RESULTS: The wild-type and the variant S113L showed the same enzymatic activity and thermostability at 30°C...
April 2016: Neurology. Genetics
Joery P F Molenaar, Marc M J Snoeck, Nicol C Voermans, Baziel G M van Engelen
Positive muscle phenomena are due to muscle overactivity. Examples are cramp, myalgia, and stiffness. These manifestations have mostly acquired causes, e.g. side-effects of medication, metabolic disorders, vitamin deficiency, excessive caffeine intake or neurogenic disorders. We report on three patients with various positive muscle phenomena, to illustrate the clinical signs that indicate an underlying myopathy. Patient A, a 56-year-old man, was diagnosed with muscle cramp in the context of excessive coffee use and previous lumbosacral radiculopathy...
2016: Nederlands Tijdschrift Voor Geneeskunde
Mari Auranen, Johanna Palmio, Emil Ylikallio, Sanna Huovinen, Anders Paetau, Satu Sandell, Hannu Haapasalo, Kati Viitaniemi, Päivi Piirilä, Henna Tyynismaa, Bjarne Udd
OBJECTIVE: To elaborate the diagnostic methods used as "gold standard" in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). METHODS: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, laboratory examinations, and whole-exome sequencing (WES). RESULTS: Both siblings had juvenile-onset exercise intolerance with cramping and infrequent myoglobinuria...
June 2015: Neurology. Genetics
Alfonso Massimiliano Ferrara, Monica Sciacco, Stefania Zovato, Silvia Rizzati, Irene Colombo, Francesca Boaretto, Maurizio Moggio, Giuseppe Opocher
von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We report on a male patient who was tested, at 10 years of age, for VHL disease because of family history of VHL...
March 25, 2016: Cancer Research and Treatment: Official Journal of Korean Cancer Association
Kevin Hummel, Andrew Gregory, Neerav Desai, Alex Diamond
Rhabdomyolysis is a syndrome characterized by muscle pain, weakness and myoglobinuria and ranges in severity from asymptomatic to life threatening with acute kidney failure. While a common condition in adult populations, it is understudied in pediatrics and the majority of adolescent cases are likely exercise-induced, caused by strenuous exercise in athletes. Recently, in our pediatric sports medicine practice, we have seen numerous cases of late adolescent high school athletes who present with severe muscle pain and were found to have elevated creatine kinase levels...
2016: Physician and Sportsmedicine
(no author information available yet)
Among active component members of the U.S. Army, Navy, Air Force, and Marine Corps in 2015, there were 456 incident episodes of rhabdomyolysis likely due to physical exertion or heat stress ("exertional rhabdomyolysis"). Annual rates of incident diagnoses of exertional rhabdomyolysis increased 17% between 2014 and 2015. In 2015, the highest incidence rates occurred in service members who were male; younger than 20 years of age; black, non-Hispanic; members of the Marine Corps and Army; recruit trainees; and in combat-specific occupations...
March 2016: MSMR
Saied A Jaradat, Wajdi Amayreh, Kefah Al-Qa'qa', Jan Krayyem
Recessive mutations in LPIN1, which encodes a phosphatidate phosphatase enzyme, are a frequent cause of severe rhabdomyolysis in childhood. Hence, we sequenced the 19 coding exons of the gene in eight patients with recurrent hereditary myoglobinuria from four unrelated families in Jordan. The long-term goal is to facilitate molecular genetic diagnosis without the need for invasive procedures such as muscle biopsies. Three different mutations were detected, including the novel missense mutation c.2395G>C (Gly799Arg), which was found in two families...
February 2016: Meta Gene
Sandra Coppens, Pavla Koralkova, Alec Aeby, Renata Mojzikova, Nicolas Deconinck, Hazim Kadhim, Richard van Wijk
We report two brothers with mild intellectual deficiency, exercise intolerance, rhabdomyolysis, seizures and no hemolysis. Phosphoglycerate kinase (PGK) activity was strongly decreased in their red blood cells. Subsequent molecular analysis of PGK1 revealed hemizygosity for a novel mutation c.756 + 3A > G, in intron 7. Analysis of the effect of this mutation on pre-mRNA processing demonstrated markedly decreased levels of normal PGK1 mRNA. In addition, the c.756 + 3A > G change resulted in abnormally spliced transcripts...
March 2016: Neuromuscular Disorders: NMD
Daniel Tseytlin, Sharon Maynard
A 38-year-old male presented with renal failure in the setting of a flu-like illness. Urinalysis showed myoglobinuria and granular casts. His serum creatine phosphokinase was markedly elevated. He was diagnosed with rhabdomyolysis and was volume resuscitated with normal saline and bicarbonate-containing fluid. Workup included a respiratory viral panel which was positive for adenovirus. Other causes such as trauma, seizure, and intoxicants were excluded. He developed progressive renal failure necessitating hemodialysis...
April 2016: Clinical Nephrology
Courtney Dawley
Rhabdomyolysis is the rapid breakdown of skeletal muscle with release of electrolytes, myoglobin, and other proteins into the circulation. The clinical presentation encompasses a spectrum of patients ranging from those with asymptomatic increases in creatine kinase (CK) levels to those with fulminant disease complicated by acute kidney injury (AKI), severe electrolyte abnormalities, compartment syndrome, and disseminated intravascular coagulation. A CK level at least 10 times the upper limit of normal typically is considered diagnostic, as is myoglobinuria...
January 2016: FP Essentials
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