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Diagnostics (Basel, Switzerland) Sep 2023Crush syndrome (CS), also known as traumatic rhabdomyolysis, is a syndrome with a wide clinical spectrum; it is caused by external compression, which often occurs in... (Review)
Review
Crush syndrome (CS), also known as traumatic rhabdomyolysis, is a syndrome with a wide clinical spectrum; it is caused by external compression, which often occurs in earthquakes, wars, and traffic accidents, especially in large-scale disasters. Crush syndrome is the second leading cause of death after direct trauma in earthquakes. A series of clinical complications caused by crush syndrome, including hyperkalemia, myoglobinuria, and, in particular, acute kidney injury (AKI), is the main cause of death in crush syndrome. The early diagnosis of crush syndrome, the correct evaluation of its severity, and accurate predictions of a poor prognosis can provide personalized suggestions for rescuers to carry out early treatments and reduce mortality. This review summarizes various methods for the diagnostic and predictive evaluation of crush syndrome, including urine dipstick tests for a large number of victims, traditional and emerging biomarkers, imaging-assisted diagnostic methods, and developed evaluation models, with the aim of providing materials for scholars in this research field.
PubMed: 37835777
DOI: 10.3390/diagnostics13193034 -
Archives of Disease in Childhood Oct 1971The clinical, biochemical, and pathological findings in 2 children with idiopathic rhabdomyolysis are reported. Hypocalcaemic tetany, a previously unrecognized... (Review)
Review
The clinical, biochemical, and pathological findings in 2 children with idiopathic rhabdomyolysis are reported. Hypocalcaemic tetany, a previously unrecognized complication of severe muscle damage, was seen in one child and was associated with hyperphosphataemia and hyperphosphaturia consequent on the rhabdomyolysis. Respiratory distress and an acute tubular necrosis contributed to her eventual death. The second child recovered; an intracellulr granular material of unknown nature was seen in his muscle biopsy on electron microscopy. The literature of idiopathic recurrent rhabdomyolysis occurring in childhood is reviewed.
Topics: Acute Kidney Injury; Adolescent; Adult; Child; Child, Preschool; Diarrhea; Female; Fibrin; Humans; Hypocalcemia; Infant; Infant, Newborn; Kidney; Kidney Tubules; Male; Microscopy, Electron; Muscles; Muscular Diseases; Myofibrils; Myoglobinuria; Necrosis; Phosphorus; Respiratory Distress Syndrome, Newborn; Respiratory Tract Infections; Staining and Labeling; Tetany; Thrombosis
PubMed: 4107384
DOI: 10.1136/adc.46.249.594 -
British Medical Journal May 1979
Topics: Acute Kidney Injury; Antineoplastic Agents; Humans; Myoglobinuria; Renal Dialysis; Uric Acid
PubMed: 455009
DOI: 10.1136/bmj.1.6173.1233-a -
Journal of Lipid Research Apr 2009The lipin protein family, consisting of three members, was first identified early this century. In the last few years, the lipin proteins have been shown to have... (Review)
Review
The lipin protein family, consisting of three members, was first identified early this century. In the last few years, the lipin proteins have been shown to have important roles in glycerolipid biosynthesis and gene regulation, and mutations in the corresponding genes cause lipodystrophy, myoglobinuria, and inflammatory disorders. Here, we review some of the progress toward elucidating the molecular and physiological functions of the lipin proteins.
Topics: Adipogenesis; Animals; Homeostasis; Humans; Insulin; Lipoproteins; Nuclear Proteins; Substrate Specificity
PubMed: 18941140
DOI: 10.1194/jlr.R800052-JLR200 -
Clinical Kidney Journal Apr 2021Rhabdomyolysis is a common cause of acute kidney injury, featuring muscle pain, weakness and dark urine and concurrent laboratory evidence of elevated muscle enzymes and... (Review)
Review
Rhabdomyolysis is a common cause of acute kidney injury, featuring muscle pain, weakness and dark urine and concurrent laboratory evidence of elevated muscle enzymes and myoglobinuria. Rhabdomyolysis is often seen in elderly and frail patients following prolonged immobilization, for example after a fall, but a variety of other causes are also well-described. What is unknown to most physicians dealing with such patients is the fascinating history of rhabdomyolysis. Cases of probable rhabdomyolysis have been reported since biblical times and during antiquity, often in the context of poisoning. Equally interesting is the link between rhabdomyolysis and armed conflict during the 20th century. Salient discoveries regarding the pathophysiology, diagnosis and treatment were made during the two world wars and in their aftermath. 'Haff disease', a form of rhabdomyolysis first described in 1920, has fascinated scientists and physicians alike, but the marine toxin causing it remains enigmatic even today. As a specialty, we have also learned a lot about the disease from 20th-century earthquakes, and networks of international help and cooperation have emerged. Finally, rhabdomyolysis has been described as a sequel to torture and similar forms of violence. Clinicians should be aware that rhabdomyolysis and the development of renal medicine are deeply intertwined with human history.
PubMed: 33841854
DOI: 10.1093/ckj/sfaa075 -
BioFactors (Oxford, England) 2008Coenzyme Q10 (CoQ10 or ubiquinone) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ10 is to...
Coenzyme Q10 (CoQ10 or ubiquinone) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ10 is to transport electrons from complexes I and II to complex III in the respiratory chain which resides in the mitochondrial inner membrane. Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged-red fibers; 2) infantile multisystemic disease typically with prominent nephropathy and encephalopathy; 3) cerebellar ataxia with marked cerebellar atrophy; and 4) pure myopathy. Primary CoQ10 deficiencies due to mutations in ubiquinone biosynthetic genes (COQ2, PDSS1, PDSS2, and ADCK3 [CABC1]) have been identified in patients with the infantile multisystemic and cerebellar ataxic phenotypes. In contrast, secondary CoQ10 deficiencies, due to mutations in genes not directly related to ubiquinone biosynthesis (APTX, ETFDH, and BRAF), have been identified in patients with cerebellar ataxia, pure myopathy, and cardiofaciocutaneous syndrome. In many patients with CoQ10 deficiencies, the causative molecular genetic defects remain unknown; therefore, it is likely that mutations in additional genes will be identified as causes of CoQ10 deficiencies.
Topics: Cerebellar Ataxia; Humans; Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Syndrome; Ubiquinone
PubMed: 19096106
DOI: 10.1002/biof.5520320113 -
British Journal of Haematology Jan 2007Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). The gene encoding the... (Review)
Review
Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). The gene encoding the erythrocyte enzyme PGK1, is X-linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manifestations. Twenty-six families have been described and in 20 of these the mutations are known. The reason for different clinical manifestations of mutations of the same gene remains unknown.
Topics: Anemia, Hemolytic, Congenital Nonspherocytic; Base Sequence; Genetic Diseases, X-Linked; Humans; Molecular Sequence Data; Mutation; Phosphoglycerate Kinase; Protein Conformation
PubMed: 17222195
DOI: 10.1111/j.1365-2141.2006.06351.x -
Forensic Science International Mar 2018Detainees may be subjected to torture and extra-judicial execution by State actors and terrorists. But, the pathology of torture has not been well-described. This is due...
Detainees may be subjected to torture and extra-judicial execution by State actors and terrorists. But, the pathology of torture has not been well-described. This is due to the lack of autopsies performed on victims of torture, mostly due to the disposal of the bodies of the victims by their torturers. On this basis, the cause of death of detainees subjected to torture is often a matter of speculation or remains obscure. This paper provides an overview of the pathology of torture based on the authour's experience with the autopsies of torture victims. At autopsy, many different types of inflicted injuries may be observed, often ranging in severity. However, three recurrent patterns of trauma that are the hallmarks of torture were recognized by the authour: (1) blunt impact trauma characterized by bruises, patterned injuries, and internal injuries; (2) electrical and thermal injuries; and (3) injuries from stress positions that occur from prolonged suspension. The most under-recognized form of fatal torture are the complications of stress positions related to suspension of the victim's body by the upper, or lower extremities. For example, prolonged suspension by reverse hanging (suspension of the victim's body by the wrists or forearms with the arms extended backward at the shoulder joint) can cause over-stretching and necrosis of the muscles of the shoulder, resulting in fatal myoglobinuric renal failure. It is essential that autopsies be performed on all detainees who die in custody, to determine if torture played a role in death. Furthermore, the true nature of the injuries sustained often remains obscure unless a musculocutaneous dissection is performed. Specifically, dissection of the back, limbs and the soles of the feet, as well as the shoulders and knees is essential to determine if specific forms of torture have been applied. This is especially true for fatal complications of stress positions. Seeking the truth about the medical consequences of fatal torture will raise awareness about torture-related injuries, assist in rehabilitation of torture survivors, and strengthen forensic humanitarian action.
Topics: Acute Kidney Injury; Arrhythmias, Cardiac; Asphyxia; Autopsy; Community-Acquired Infections; Disease Outbreaks; Forensic Pathology; Hematoma; Humans; Myoglobinuria; Posture; Prisoners; Sepsis; Shock, Hemorrhagic; Starvation; Stress, Mechanical; Stress, Physiological; Suicide; Torture; Water Deprivation; Wounds and Injuries
PubMed: 29367172
DOI: 10.1016/j.forsciint.2017.12.022 -
Cell Stress & Chaperones Jan 2015Intensive muscular activity can trigger oxidative stress, and free radicals may hence be generated by working skeletal muscle. The role of the enzyme xanthine oxidase as... (Review)
Review
Intensive muscular activity can trigger oxidative stress, and free radicals may hence be generated by working skeletal muscle. The role of the enzyme xanthine oxidase as a generating source of free radicals is well documented and therefore is involved in the skeletal muscle damage as well as in the potential transient cardiovascular damage induced by high-intensity physical exercise. Allopurinol is a purine hypoxanthine-based structural analog and a well-known inhibitor of xanthine oxidase. The administration of the xanthine oxidase inhibitor allopurinol may hence be regarded as promising, safe, and an economic strategy to decrease transient skeletal muscle damage (as well as heart damage, when occurring) in top-level athletes when administered before a competition or a particularly high-intensity training session. Although continuous administration of allopurinol in high-level athletes is not recommended due to its possible role in hampering training-induced adaptations, the drug might be useful in non-athletes. Exertional rhabdomyolysis is the most common form of rhabdomyolysis and affects individuals participating in a type of intense exercise to which they are not accustomed. This condition can cause exercise-related myoglobinuria, thus increasing the risk of acute renal failure and is also associated with sickle cell trait. In this manuscript, we have reviewed the recent evidence about the effects of allopurinol on exercise-induced muscle damage. More research is needed to determine whether allopurinol may be useful for preventing not only exertional rhabdomyolysis and acute renal damage but also skeletal muscle wasting in critical illness as well as in immobilized, bedridden, sarcopenic or cachectic patients.
Topics: Acute Kidney Injury; Allopurinol; Biomarkers; Exercise; Free Radicals; Humans; Muscle, Skeletal; Muscular Diseases; Xanthine Oxidase
PubMed: 25181966
DOI: 10.1007/s12192-014-0543-2