-
Neuromuscular Disorders : NMD Aug 2014Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus criteria for rhabdomyolysis is lacking, a reasonable definition is elevation... (Review)
Review
Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus criteria for rhabdomyolysis is lacking, a reasonable definition is elevation of serum creatine kinase activity of at least 10 times the upper limit of normal followed by a rapid decrease of the sCK level to (near) normal values. The clinical presentation can vary widely, classical features are myalgia, weakness and pigmenturia. However, this classic triad is seen in less than 10% of patients. Acute renal failure due to acute tubular necrosis as a result of mechanical obstruction by myoglobin is the most common complication, in particular if sCK is >16.000 IU/l, which may be as high as 100,000 IU/l. Mortality rate is approximately 10% and significantly higher in patients with acute renal failure. Timely recognition of rhabdomyolysis is key for treatment. In the acute phase, treatment should be aimed at preserving renal function, resolving compartment syndrome, restoring metabolic derangements, and volume replacement. Most patients experience only one episode of rhabdomyolysis, mostly by substance abuse, medication, trauma or epileptic seizures. In case of recurrent rhabdomyolysis, a history of exercise intolerance or a positive family history for neuromuscular disorders, further investigations are needed to identify the underlying, often genetic, disorder. We propose a diagnostic algorithm for use in clinical practice.
Topics: Animals; Humans; Rhabdomyolysis
PubMed: 24946698
DOI: 10.1016/j.nmd.2014.05.005 -
Indian Journal of Pediatrics Feb 2015Dystrophinopathies comprise a group of hereditary muscle disorders characterized by progressive wasting and weakness of skeletal muscle, as a result of degeneration of... (Review)
Review
Dystrophinopathies comprise a group of hereditary muscle disorders characterized by progressive wasting and weakness of skeletal muscle, as a result of degeneration of muscle fibers, and can be distinguished by the mode of transmission, age at onset and pattern of muscle weakness. The range of phenotypes associated with the region Xp21 has been expanding since identification of the gene in 1987. The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).
Topics: Child; Disease Management; Disease Progression; Dystrophin; Genetic Testing; Humans; Muscular Dystrophy, Duchenne
PubMed: 25416089
DOI: 10.1007/s12098-014-1621-2 -
Emergency Radiology Aug 2023On February 6, two major earthquakes with magnitudes of 7.8 and 7.7 on the Richter scale hit Turkey and Northern Syria causing more than 50,000 deaths. In the immediate...
On February 6, two major earthquakes with magnitudes of 7.8 and 7.7 on the Richter scale hit Turkey and Northern Syria causing more than 50,000 deaths. In the immediate aftermath of the earthquakes, our major tertiary medical referral center received dozens of cases of crush syndrome, presenting with a variety of imaging findings. Crush syndrome is characterized by hypovolemia, hyperkalemia, and myoglobinuria that can lead to rapid death of victims, despite their survival of staying under wreckage for days. The typical triad of crush syndrome consists of the acute tubular necrosis, paralytic ileus, and third-space edema. In this article, we focus primarily on characteristic imaging findings of earthquake-related crush syndrome and divided them into two distinct subsections: myonecrosis, rapid hypovolemia, excessive third-space edema, acute tubular necrosis, and paralytic ileus, which are directly related to crush syndrome, and typical accompanying findings of earthquake-related crush syndrome. Lower extremity compression in earthquake survivors results in the typical third-space edema. In addition to the lower extremities, other skeletal muscle regions are also affected, especially rotator muscles, trapezius, and pectoral muscles. Although it may be relatively easy to better detect myonecrosis with contrast-enhanced CT scans, changing the windowing of the images may be helpful.
Topics: Humans; Earthquakes; Crush Syndrome; Hypovolemia; Tomography, X-Ray Computed; Necrosis
PubMed: 37270438
DOI: 10.1007/s10140-023-02147-4 -
Neuromuscular Disorders : NMD Apr 2022Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and... (Randomized Controlled Trial)
Randomized Controlled Trial
Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria. Currently, there is no specific treatment for PFKD. We hypothesized that 2 weeks treatment with triheptanoin could improve oxidative metabolism during exercise by bypassing the blocked pyruvate generation in PFKD. The study was a randomized, double-blind, placebo-controlled crossover study. Three genetically verified patients completed two treatment periods of 14 days each with triheptanoin (0.3-1 g × kg × day) or placebo liquid. Primary outcomes were heart rate, fatty acid and total oxidation measured via stable isotope and indirect calorimetry methodology during submaximal exercise. Triheptanoin did not improve the primary outcome heart rate during submaximal exercise compared to placebo. Palmitate oxidation was increased during submaximal exercise in one patient but did not increase in the two other patients during triheptanoin treatment. Palmitate production and palmitate utilization increased during exercise and increased to a greater extent with triheptanoin treatment in all three patients. This study suggests that triheptanoin treatment has no effect on heart rate or exercise performance despite increased palmitate production and utilization in patients with PFKD.
Topics: Cross-Over Studies; Glycogen; Humans; Palmitates; Phosphofructokinases; Pyruvates; Triglycerides
PubMed: 35241345
DOI: 10.1016/j.nmd.2022.01.012 -
Journal of the College of Physicians... Feb 2021Rhabdomyolysis constitutes an uncommon cause of acute kidney injury (AKI). A large variety of causes with different pathogenic mechanisms may involve skeletal muscles...
Rhabdomyolysis constitutes an uncommon cause of acute kidney injury (AKI). A large variety of causes with different pathogenic mechanisms may involve skeletal muscles resulting in rhabdomyolysis with or without acute kidney injury. Crush syndrome and unaccustomed physical exertion are the most common causes of rhabdomyolysis. This study reports local cases of AKI secondary to rhabdomyolysis that presented to a tertiary care centre over a period of four years. Most of them were males and belonged to younger age group. Muscle enzyme creatine phosphokinase level was raised in all patients, while myoglobinuria was detected only in one patient. Most of the patients (10/16) were managed conservatively with fluid replacement; and some of them (6/16) needed dialysis. AKI was resolved in all the patients after a variable period of time. Key Words: Rhabdomyolysis, Acute kidney injury, Myoglobinuria, Creatine phosphokinase, Trauma.
Topics: Acute Kidney Injury; Creatine Kinase; Female; Humans; Male; Myoglobinuria; Renal Dialysis; Rhabdomyolysis
PubMed: 33645199
DOI: 10.29271/jcpsp.2021.02.235 -
Revue Medicale de Liege Sep 2023Rhabdomyolysis is a clinical syndrome related to the damage of skeletal muscle. The symptomatology is often poor, but it classically includes muscle weakness, myalgia...
Rhabdomyolysis is a clinical syndrome related to the damage of skeletal muscle. The symptomatology is often poor, but it classically includes muscle weakness, myalgia and red-brown urine. The causes may be multiple but are most frequently traumatic : the so-called "crush syndrome". The diagnosis is based on the increase in serum creatine kinase, which is sometimes associated with myoglobinuria. Rhabdomyolysis may cause severe complications, such as ionic disorders or acute kidney injury which can lead to the death of the patient.
Topics: Humans; Rhabdomyolysis; Acute Kidney Injury; Muscle Weakness; Syndrome
PubMed: 37712164
DOI: No ID Found -
Revista Espanola de Anestesiologia Y... Jan 2017Malignant hyperthermia is a hypermetabolic syndrome that appears in susceptible patients after exposure to certain anaesthetic drugs (succinylcholine, inhalation... (Review)
Review
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: CO 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. Dantrolene sodium is a ryanodine receptor antagonist, and inhibits the release of intracellular calcium. Definitive diagnosis is achieved by the exposure of muscle fibres to caffeine and halothane. Protocols can help guarantee a reliable and secure management when this severe event occurs.
Topics: Adolescent; Adult; Caffeine; Calcium Signaling; Child; Child, Preschool; Clinical Protocols; Critical Care; Dantrolene; Diagnosis, Differential; Disease Management; Female; Halothane; Humans; Infant; Infant, Newborn; Male; Malignant Hyperthermia; Muscle Contraction; Muscle Fibers, Skeletal; Neuroleptic Malignant Syndrome; Ryanodine Receptor Calcium Release Channel; Serotonin Syndrome
PubMed: 27633384
DOI: 10.1016/j.redar.2016.06.004 -
Molecules (Basel, Switzerland) Apr 2020Carnitine palmitoyltransferase (CPT) catalyzes the transfer of long- and medium-chain fatty acids from cytoplasm into mitochondria, where oxidation of fatty acids takes... (Review)
Review
Carnitine palmitoyltransferase (CPT) catalyzes the transfer of long- and medium-chain fatty acids from cytoplasm into mitochondria, where oxidation of fatty acids takes place. Deficiency of CPT enzyme is associated with rare diseases of fatty acid metabolism. CPT is present in two subforms: CPT I at the outer mitochondrial membrane and carnitine palmitoyltransferase II (CPT II) inside the mitochondria. Deficiency of CPT II results in the most common inherited disorder of long-chain fatty acid oxidation affecting skeletal muscle. There is a lethal neonatal form, a severe infantile hepato-cardio-muscular form, and a rather mild myopathic form characterized by exercise-induced myalgia, weakness, and myoglobinuria. Total CPT activity (CPT I + CPT II) in muscles of CPT II-deficient patients is generally normal. Nevertheless, in some patients, not detectable to reduced total activities are also reported. CPT II protein is also shown in normal concentration in patients with normal CPT enzymatic activity. However, residual CPT II shows abnormal inhibition sensitivity towards malonyl-CoA, Triton X-100 and fatty acid metabolites in patients. Genetic studies have identified a common p.Ser113Leu mutation in the muscle form along with around 100 different rare mutations. The biochemical consequences of these mutations have been controversial. Hypotheses include lack of enzymatically active protein, partial enzyme deficiency and abnormally regulated enzyme. The recombinant enzyme experiments that we recently conducted have shown that CPT II enzyme is extremely thermoliable and is abnormally inhibited by different emulsifiers and detergents such as malonyl-CoA, palmitoyl-CoA, palmitoylcarnitine, Tween 20 and Triton X-100. Here, we present a conceptual overview on CPT II deficiency based on our own findings and on results from other studies addressing clinical, biochemical, histological, immunohistological and genetic aspects, as well as recent advancements in diagnosis and therapeutic strategies in this disorder.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Fatty Acids; Female; Genetic Association Studies; Humans; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Mitochondria; Muscle, Skeletal; Oxidation-Reduction
PubMed: 32295037
DOI: 10.3390/molecules25081784 -
Journal of Nephrology Aug 2021The kidney is frequently involved by autoimmune rheumatic diseases. The renal manifestations may be variable, ranging from asymptomatic proteinuria and microscopic... (Review)
Review
The kidney is frequently involved by autoimmune rheumatic diseases. The renal manifestations may be variable, ranging from asymptomatic proteinuria and microscopic haematuria to nephrotic syndrome and rapidly progressive glomerulonephritis or vasculitis. In a number of cases the kidney involvement is related to the treatment of the original disease and may represent a major cause of morbidity and mortality. Thus, it is important for nephrologists and rheumatologists to remember that dysfunction of the kidney may be part of the primary systemic disorder or consequence of its pharmacotherapy. In the first part of this review we will analyse the kidney involvement in four autoimmune connective tissue diseases: systemic lupus erythematosus, Sjögren syndrome, polymyositis/dermatomyositis, and systemic sclerosis. Renal disease is common in lupus and is a main cause of morbidity and mortality. About 10% of patients with Sjögren syndrome may present interstitial nephritis or, more rarely, glomerulonephritis. Myoglobinuria and acute kidney injury is a frequent complication of polymyositis. Renal disease is one of the most serious complications of systemic sclerosis and may present with a dramatic renal crisis, characterized by malignant hypertension, oligo-anuria, and microangiopathic thrombocytopenic anaemia.
Topics: Connective Tissue Diseases; Humans; Lupus Erythematosus, Systemic; Nephritis, Interstitial; Scleroderma, Systemic; Sjogren's Syndrome
PubMed: 32529559
DOI: 10.1007/s40620-020-00772-7 -
Oxidative Medicine and Cellular... 2019Glucose-6-phosphate dehydrogenase (G6PD) deficiency, theoretically, renders red blood cells (RBC) susceptible to oxidative stress. G6PD deficiency has also been found in... (Review)
Review
OBJECTIVES
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, theoretically, renders red blood cells (RBC) susceptible to oxidative stress. G6PD deficiency has also been found in other types of cells than RBC, such as leukocytes and myocytes, where an inefficient protection against oxidative stress may occur too. Glutathione (GSH), a significant antioxidant molecule, levels are lower in G6PD individuals, and theoretically, the probability of oxidative stress and haemolysis due to exercise in individuals with G6PD deficiency is increased, whereas dietary supplementation with antioxidants may have beneficial effects on various aspects of this enzymopathy.
METHODS
A search of the available literature was conducted using the keywords glucose-6-phosphate dehydrogenase (G6PD), deficiency, disease, exercise, muscle, antioxidant, vitamin, supplement, and supplementation. The search was limited to publications in English, conducted on humans, and published until August 2018. After screening, only relevant articles were included.
RESULTS
There is little evidence indicating that G6PD deficiency can cause perturbations in redox status, haemolysis, and clinical symptoms such as fatigability and myoglobinuria, especially after intense exercise, compared to individuals with normal enzyme levels.
CONCLUSIONS
Exercise could be used by G6PD-deficient individuals as a tool to improve their quality of life. However, there is a lack of training studies, and assessment of the effects of regular and systematic exercise in G6PD-deficient individuals is warranted. Finally, since GSH levels are lower in G6PD deficiency, it would be interesting to examine the effects of antioxidant or cysteine donor supplements on redox status after exercise in these individuals.
Topics: Exercise; Glucosephosphate Dehydrogenase Deficiency; Humans; Oxidation-Reduction; Oxidative Stress
PubMed: 31089417
DOI: 10.1155/2019/8060193