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Objective To explore the correlations of genotype and phenotype of myopathic form of carnitine palmitoyltransferase Ⅱ (CPT Ⅱ) deficiency and to improve the clinical understanding of the disease. Methods The clinical data of a case of myopathic form of CPT Ⅱ deficiency were analyzed, including the results of gene detection, diagnosis, treatment, and follow-up. The literature was reviewed to summarize the clinical characteristics, diagnosis, and treatment of CPT Ⅱ deficiency. Results The patient, a 10-month-old girl, was admitted to the hospital with acute enteritis. The blood creatine kinase and myoglobin were significantly increased in the auxiliary examination. Her father had a history of weakness after regular exercise and myoglobinuria. Both the father and the daughter carried the heterozygous pathogenic mutation c.989dupTp. (Ile332fs) in the CPT2 gene, which confirmed the diagnosis of myopathic form of CPT Ⅱ deficiency. After treatment with infection control and supplementation of a large amount of carbohydrates, creatine kinase and myoglobin returned to normal levels. Following discharge, follow-up showed that the patient was in good condition. Conclusion Myopathic form of CPT Ⅱ deficiency is a common disease that affects the lipid metabolism in skeletal muscle and is a common cause of hereditary myoglobinuria. However, its symptoms can be quite subtle and are frequently overlooked in clinical practice. When a patient exhibits repeated increases in creatine kinase as well as exercise intolerance, myoglobinuria, or positive family history, the disease should be taken into consideration.

Rhabdomyolysis can lead to variable clinical presentation and complications putting life at risk. Patients with preexisting low serum 25(OH) Vitamin D are at high risk of exertional rhabdomyolysis during strenuous activities. This aimed to study the pathophysiology of rhabdomyolysis associated with sedentary lifestyle, strenuous exercise, and Vitamin D3 deficiency. A 26-year-old male with chief complaints of cramps in thigh muscles, reduced urine output, and dark coffee-colored urine was presented at Bawa Hospital, Ludhiana. The patient has a history of strenuous exercise and Vitamin D deficiency. Serum creatinine kinase, liver enzymes, and myoglobin in urine were evaluated. The patient was treated with intravenous fluids, sodium bicarbonate, and diuretic. The case was diagnosed as rhabdomyolysis and was treated accordingly. The recovery after 5 days was good following early treatment with fluids and forced alkaline diuresis. The kidney function tests remained normal throughout the treatment period. Aggressive fluid resuscitation is the key management for rhabdomyolysis.

Acute Kidney Injury in children following bee sting envenomation is rare and survival is hinged on early recognition and prompt appropriate management. This report is aimed at raising awareness among healthcare workers, of one of the systemic effects of massive bee sting and the need to develop sting treatment protocol. A three year old preschooler was attacked by a swarm of bees, receiving over 150stings. Initial clinical features were allergic response involving the head, face and tongue for which he had first aid in a primary healthcare facility and thereafter sent home. Few hours later he developed clinical features of intravascular haemolysis, rhabdomyolysis, hypertension and acute renal failure. Laboratory findings were in keeping with clinical presentation. Despite supportive management, serum biochemistry worsened necessitating haemodialysis. Massive bee sting envenomation can cause systemic reactions and organ dysfunctions. To improve the overall clinical outcome, sting treatment protocol is advocated.

Introduction: Rhabdomyolysis and hemolysis cause pigment nephropathy that progresses to chronic kidney disease (CKD) requiring hemodialysis in some patients. As this is a significant financial burden, understanding the etiologies and renal biopsy findings aids in timely diagnosis and optimizing outcomes. Objectives: We analyzed the etiology, clinicopathological features, and renal outcome of seventeen patients with pigment nephropathy. Patients and Methods: This retrospective study was conducted from 2018 to 2021. Data on detailed clinical history, laboratory parameters, renal biopsy records and the renal outcome was collected. Results: Among seventeen patients with pigment nephropathy, the etiology was rhabdomyolysis in 15 patients and hemolysis in two patients. Oliguria was the most common clinical presentation, and all patients presented with acute kidney injury (AKI). Renal biopsy revealed reddish beaded granule and vermiform-like casts in 10, brownish casts with intra-tubular hemosiderin in three, and granular and calcific casts in two patients each. While fourteen patients recovered to normal renal function within three months, one progressed to stage 5 CKD, one had stage 2 CKD, and one died. Conclusion: In most patients, clinical history did not reveal a direct diagnosis of rhabdomyolysis, and hence one must remain vigilant even in the absence of the classical triad of symptoms. [ABSTRACT FROM AUTHOR]

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Introduction: Rhabdomyolysis and hemolysis cause pigment nephropathy that progresses to chronic kidney disease (CKD) requiring hemodialysis in some patients. As this is a significant financial burden, understanding the etiologies and renal biopsy findings aids in timely diagnosis and optimizing outcomes. Objectives: We analyzed the etiology, clinicopathological features, and renal outcome of seventeen patients with pigment nephropathy. Patients and Methods: This retrospective study was conducted from 2018 to 2021. Data on detailed clinical history, laboratory parameters, renal biopsy records and the renal outcome was collected. Results: Among seventeen patients with pigment nephropathy, the etiology was rhabdomyolysis in 15 patients and hemolysis in two patients. Oliguria was the most common clinical presentation, and all patients presented with acute kidney injury (AKI). Renal biopsy revealed reddish beaded granule and vermiform-like casts in 10, brownish casts with intra-tubular hemosiderin in three, and granular and calcific casts in two patients each. While fourteen patients recovered to normal renal function within three months, one progressed to stage 5 CKD, one had stage 2 CKD, and one died. Conclusion: In most patients, clinical history did not reveal a direct diagnosis of rhabdomyolysis, and hence one must remain vigilant even in the absence of the classical triad of symptoms.

Aim: Acute kidney injury is an important public health problem worldwide due to the significant morbidities and the economic burden it causes. We aimed to investigate the effects of cannabinoid receptor agonists and antagonists on biochemical and histopathological parameters in myoglobinuric acute kidney injury (MAKI). Methods: Wistar rats were divided into seven groups. Six groups underwent a 50% glycerol injection to establish kidney injury, while one group received physiological saline (PS) injection to serve as a control. Agonist (WIN55,212-2) and antagonist (AM251 or SR144528) injections were administered intraperitoneally at 60- and 75 minutes following glycerol injection. Serum and urine samples were collected, and kidney tissues were removed. Glutathione, malondialdehyde, urea, creatinine, and sodium levels were assayed. Histopathological evaluation was performed semi-quantitatively on the hematoxylin eosinstained sections. Results: Serum creatinine and urea levels were significantly higher in all kidney injury groups compared to control. Serum creatinine level was significantly lower in the WIN+SR144528 group compared to the AKI group. Histological damage score was significantly lower in the WIN and WIN+SR144528 groups compared to the AKI group. Conclusions: Blockade of cannabinoid 2 receptors improved kidney function and histology against MAKI, while blockade of cannabinoid 1 receptors caused negative results. [ABSTRACT FROM AUTHOR]

McArdle’s disease (Glycogen storage disease type V) is a rare inherited autosomal recessive disease involving defect in enzyme, glycogen phosphorylase (PYGM) which results in accumulation of glycogen mainly affecting skeletal muscles. It commonly presents in childhood and rarely in adults with symptoms like exercise intolerance, muscle weakness, cramps and fatigue. Herein, we report an unusual case of a 22 years old male in Pakistan with probable McArdle’s Disease presenting with repeated episodes of generalized cramping muscle pain, exercise intolerance and haematuria. The diagnostic approach to identifying this disease as well as the differentials of other rare types of skeletal muscle disorders that should be kept in mind while dealing with a similar clinical picture, irrespective of the age of presentation, have been discussed. Keywords: Glycogen Storage Disease Type V, Myoglobinuria.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during adolescence or adulthood. We report on a 17-year-old boy who has presented with exercise-induced muscle pain and fatigue since childhood. In recent clinical history, episodes of exercise-related severe hyperCKemia and myoglobinuria were reported. Electromyography was normal, and a muscle biopsy showed only "moth-eaten" fibers, and a mild increase in lipid storage in muscle fibers. NGS analysis displayed the already known heterozygote c.1769G>A variant and the unreported heterozygote c.523G>C change in ACADVL both having disease-causing predictions. Plasma acylcarnitine profiles revealed high long-chain acylcarnitine species levels, especially C14:1. Clinical, histopathological, biochemical, and genetic tests supported the diagnosis of VLCAD deficiency. Our report of a novel pathogenic missense variant in ACADVL expands the allelic heterogeneity of the disease. Since dietary treatment is the only therapy available for treating VLCAD deficiency and it is more useful the earlier it is started, prompt diagnosis is essential in order to minimize muscle damage and slow the disease progression. [ABSTRACT FROM AUTHOR]

Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to investigate possible genetic causes in order to help diagnose patients with recurrent hyperCKemia or clinical suspicion of inherited metabolic myopathy. Methods A cohort of 139 patients (90 adults and 49 children) was analyzed using a custom panel containing 54 genes associated with hyperCKemia. Results A definite genetic diagnosis was obtained in 15.1% of cases, while candidate variants or variants of uncertain significance were found in a further 39.5%. Similar percentages were obtained in patients with infantile or adult onset, with some different causative genes. RYR1 was the gene most frequently identified, either with single or compound heterozygous variants, while ETFDH variants were the most common cause for recessive cases. In one patient, mRNA analysis allowed identifying a large LPIN1 deletion missed by DNA sequencing, leading to a certain diagnosis. Conclusion These data confirm the high genetic heterogeneity of hyperCKemia and metabolic myopathies. The reduced diagnostic yield suggests the existence of additional genes associated with this condition but also allows speculation that a significant number of cases presenting with hyperCKemia or muscle symptoms are due to extrinsic, not genetic, factors. [ABSTRACT FROM AUTHOR]

Abstract Few cases have been reported to date, in which a massive rhabdomyolysis causes a cardiac arrest in a male adult suffering from undiagnosed McArdle disease. Veno‐arterial extracorporeal membrane oxygenation and cytokine adsorption filter (CytoSorb®) were required to reach a complete and successful recovery.

Simple Summary: In this case report, we describe the case of a dog with a clinical diagnosis of rhabdomyolysis without myoglobinuria or EMG abnormalities. Rhabdomyolysis is a potentially life-threatening condition characterized by the breakdown of skeletal muscle fibers and the release of their contents into the bloodstream. This can lead to a range of symptoms, including weakness, muscle pain, dark urine (myoglobinuria), and, in severe cases, kidney failure. In humans and dogs, diagnosis typically involves, among other things, the measurement of creatine kinase (CK) activity, an enzyme released during muscle breakdown, and urinalysis for myoglobin, as well as imaging studies and other tests, such as electromyography (EMG). The severity of rhabdomyolysis can vary to a large degree. Prompt diagnosis and treatment are critical for a positive outcome. While myoglobinuria is a common finding in humans and dogs with rhabdomyolysis, it may not always be present. Similarly, while EMG studies can be a useful tool for detecting muscle abnormalities and assessing the extent of muscle damage, results thereof may not always be abnormal in cases of rhabdomyolysis. Therefore, the absence of EMG abnormalities and/or myoglobinuria does not necessarily rule out rhabdomyolysis in dogs. This case report underlines the importance of not ruling out rhabdomyolysis as a cause of clinical symptoms in dogs without myoglobinuria or EMG abnormalities. A 2-year-old female neutered Old German Shepherd was presented for acute non-ambulatory tetraparesis. Upon presentation to the emergency department, hematology and biochemical blood tests revealed no abnormalities aside from mildly elevated C-reactive protein levels (22.5 mg/L, reference range 0.0–10.0) and immeasurable creatine kinase (CK) activity. Neurological evaluation the next day revealed ambulatory tetraparesis, general proprioceptive deficits, mild ataxia and dubious diffuse myalgia. Withdrawal reflexes were weak on both thoracic and pelvic limbs. The CK was determined to be significantly elevated at that point (32.856 U/L, ref. range 10.0–200.0). Urinalysis revealed no abnormalities. An electromyographic (EMG) study of thoracic limb, paraspinal and pelvic limb muscles revealed no abnormalities. A magnetic resonance imaging (MRI) study of the cervicothoracic spinal cord was performed and revealed no abnormalities. A presumptive clinical diagnosis of rhabdomyolysis without myoglobinuria or EMG abnormalities was formed. Muscular biopsies were declined due to the rapid clinical improvement of the dog. A follow-up showed the progressive decline of CK activity to normal values and clinical remission of signs. A diagnosis of rhabdomyolysis was concluded based on clinical signs, consistent CK activity elevations and the response to supportive treatment for rhabdomyolysis, despite the absence of myoglobinuria and EMG abnormalities. Rhabdomyolysis should not be excluded based on the lack of EMG abnormalities or myoglobinuria in dogs. [ABSTRACT FROM AUTHOR]

Objective: To report a case of rhabdomyolysis and myoglobinuria following single induction dose of propofol in a dog. Case Summary: A 5‐year‐old intact male Shih‐Tzu dog was presented for pigmenturia occurring a few hours following anesthesia for comprehensive oral health assessment and treatment. After premedication with IV diazepam (0.5 mg/kg), anesthesia was induced with IV propofol (4 mg/kg) and maintained with isoflurane vaporized in oxygen. A few hours following recovery from anesthesia, the dog developed rhabdomyolysis and myoglobinuria associated with increased serum alanine aminotransferase and C‐reactive protein concentrations, as well as mild hypokalemia and euglycemic glycosuria. Approximately 48 hours after IV fluid therapy, the dog was clinically normal, and myoglobinuria progressively resolved. New or Unique Information Provided: This is the first case description of rhabdomyolysis and myoglobinuria following a single dose of injectable propofol. [ABSTRACT FROM AUTHOR]

BACKGROUND: Exertional rhabdomyolysis is induced by physical overexertion; it is reported since the beginning of the millennium with increasing frequency and coincides with the greater participation of the general population in sports centers and groups promoted by a higher level of awareness of the need to adhere to healthy lifestyles. This disease can account for one third of cases complicated by acute renal failure that, with aggressive initial medical management based on fluid replacement and close monitoring, is associated with low risk of mortality and other sequelae. CLINICAL CASI A 33-year-old male patient who suffered acute renal failure, diagnosed with exertional rhabdomyolysis with good clinical response to management measures and positive final evolution. Approach, initial and subsequent management correlated with close clinical-laboratory monitoring of patient are presented. CONCLUSIONS: It is noted that even the evidence available for the management of these patients could induce over-treatment or increase in hospital stay, which could indicate that more evidence is needed to generate management and follow-up guidelines according to the characteristics of the patient with exertional rhabdomyolysis that differentiate him from the patient with rhabdomyolysis due to other causes. It is also recommended to initiate prevention process in sports centers and groups. [ABSTRACT FROM AUTHOR]

A 19-year-old healthy bodybuilder presented to the emergency department with gradually worsening pain in both his upper arms and shoulders and inability to fully flex his elbows. The haematological investigations revealed a markedly raised Creatinine Kinase (74,400 U/L) and myoglobinuria. The patient required an emergency surgical decompression of the pectoral and the anterior and posterior compartments of arms of both upper limbs with secondary closure after 48 h. The patient had an uneventful post-op and recovery of his functions with some initial restriction of full flexion of his left elbow and some weakness in his triceps, all of which gradually improved. [ABSTRACT FROM AUTHOR]

Few cases have been reported to date, in which a massive rhabdomyolysis causes a cardiac arrest in a male adult suffering from undiagnosed McArdle disease. Veno‐arterial extracorporeal membrane oxygenation and cytokine adsorption filter (CytoSorb®) were required to reach a complete and successful recovery. [ABSTRACT FROM AUTHOR]

Benign acute myositis is a rare and transient condition that usually occurs after a viral upper respiratory infection. Several viruses have been associated with this process particularly influenza B. Viral myositis frequently occurs in school-age children with a male predominance. Patients complain about symmetrical calf muscle pain and uncoordinated gait and functional impairment. The presentation is associated with increased creatine phosphokinase. Benign acute myositis is a self-limiting condition with an excellent prognosis. Myoglobinuria is uncommon but severe. We report a case series of three patients presented with viral myositis. Pediatricians must be aware of this pathology to reach an early diagnosis and avoid unnecessary diagnosis investigations. It is also important to reach out to myoglobinuria, which can lead to renal impairment., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Arrab et al.)

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during adolescence or adulthood. We report on a 17-year-old boy who has presented with exercise-induced muscle pain and fatigue since childhood. In recent clinical history, episodes of exercise-related severe hyperCKemia and myoglobinuria were reported. Electromyography was normal, and a muscle biopsy showed only “moth-eaten” fibers, and a mild increase in lipid storage in muscle fibers. NGS analysis displayed the already known heterozygote c.1769G>A variant and the unreported heterozygote c.523G>C change in ACADVL both having disease-causing predictions. Plasma acylcarnitine profiles revealed high long-chain acylcarnitine species levels, especially C14:1. Clinical, histopathological, biochemical, and genetic tests supported the diagnosis of VLCAD deficiency. Our report of a novel pathogenic missense variant in ACADVL expands the allelic heterogeneity of the disease. Since dietary treatment is the only therapy available for treating VLCAD deficiency and it is more useful the earlier it is started, prompt diagnosis is essential in order to minimize muscle damage and slow the disease progression.

Background & Aims: Influenza is one of the leading causes of respiratory illness in children and adults with underlying disease and the elderly. The virus kills large numbers of people annually, and dangerous types of the virus are associated with pneumonia and complications. Muscle pain is one of the most common findings in this disease, which is associated with myoglobinuria and increased levels of creatine phosphokinase (CPK). Patients with high CPK levels are associated with more complications and a higher risk of hospitalization. There has been a lot of research on the high levels of CPK in these patients, but the association of this enzyme in the blood of hospitalized patients with influenza has not been done and it is important to pay attention to the levels of this enzyme in hospitalized people. Serum CPK levels in the flu can be used as a diagnostic marker and predict the effects of the flu. Therefore, the aim of this study was to evaluate the level of CPK in patients with influenza and its differences in different ages. Methods: In this descriptive-analytical study, 264 patients with influenza resulting in hospitalization with an age range of one month to 90 years who were referred to Hazrat Ali Asghar and Hazrat Rasoul Akram Hospital in Tehran in autumn and winter of 1398, were Were examined. The clinical signs of influenza were evaluated in these patients and the frequency of lymphopenia, thrombocytopenia, neutropenia, myoglobinuria, positive blood culture and blood CPK level were measured in vitro. The relationship between influential variables such as myalgia and myoglobinuria and platelet status with high CPK levels was investigated. The obtained data were analyzed by SPSS software version 23. Results: The mean age of patients was 24.99 years. 54.2% were male. Prevalence of clinical symptoms of patients based on age groups showed that 176 (66.7%) had chills, 179 (67.8%) had myalgia, 115 (43.5%) had pharyngitis, 242 (98.4%) Cough, 119 patients (45%) had sputum, 58 patients (22%) had headache, 66 patients (25%) had shortness of breath and 68 patients (25.6%) had diarrhea. Among these, the highest and lowest prevalence of myalgia were in the age group of 21-40 years and children under 5 years, respectively, which was statistically significant (P = 0.027). There was also a significant difference in the prevalence of pharyngitis (P ˂0.001), sputum (P = 0.004) and shortness of breath (P ˂0.001) in patients. CPK levels were about 50% higher than normal and did not differ between age groups and sexes. Lymphopenia, thrombocytopenia and neutropenia had a prevalence of 41%, 25% and 20%, respectively. Myoglobinuria had a prevalence of 82%, which was more common in the under-5 age group. In the group with normal CPK, the prevalence of myoglobinuria was nearly 30% higher. Also, the prevalence of high CPK in the group with myoglobinuria was almost 35% higher than the group without it, which indicates the relationship between the prevalence of high CPK and myoglobinuria (P = 0.02). There was a significant relationship between patients' blood platelet status and high or normal CPK (P = 0.01). The prevalence of myalgia in the group with high CPK was 52% higher than the group without myalgia and in the group with myalgia, the prevalence of high CPK was 16% higher and the prevalence of myalgia symptom was statistically significant (P = 0.004). Positive blood cultures were higher in adults and the elderly than in youth and children, and among the clinical signs, CPK was associated only with myalgia. Conclusion: High levels of CPK were observed in half of the patients and our findings showed that high levels of CPK were significantly associated with myalgia and myoglobinuria and platelet status. This indicates that the increase and decrease of this enzyme can affect the fate of the disease. It is suggested that future studies investigate the association of CPK levels with lymphopenia and leukopenia and immune cells. Examination of CPK levels in future patients can be effective in identifying the risk factor for disease severity and help in better treatment and reduction of disease complications. [ABSTRACT FROM AUTHOR]

Vaccination is the best strategy for the development of herd immunity and for the control of the SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) pandemic. As the number of immunizations across the globe reaches a record number, random cases of diverse adverse effects of the vaccines are being documented. We report a case of renal biopsy--proven myoglobin-induced acute tubular injury requiring dialytic support post-CovishieldTM vaccination. Awareness of this rare complication is necessary so that it can be recognized early, and renal injury avoided. [ABSTRACT FROM AUTHOR]

Rhabdomyolysis (RM) is a well-known clinical syndrome caused by the breakdown and necrosis of muscle tissue. It can lead to electrolyte abnormalities and acute kidney injury. A case of RM is analyzed retrospectively during laparoscopic surgery for cervical cancer. It is related to the state of general anesthesia, surgical position and long time immobilization. It is characterized by muscle pain, weakness, and dark pigmentation of the urine. The diagnosis is confirmed by elevated creatine kinase and myoglobin levels. The management of RM is prompt intravenous volume expansion, maintainous urine output, and continuous renal replacement therapy (CRRT). Doctors need to pay attention to the intro-operative RM. Prolonged duration and passive position of surgery is a well-recognized risk factor in the development of RM. It emphasize the importance of placing the patient in the surgical position in the awake state. [ABSTRACT FROM AUTHOR]

A 2-year-old female neutered Old German Shepherd was presented for acute non-ambulatory tetraparesis. Upon presentation to the emergency department, hematology and biochemical blood tests revealed no abnormalities aside from mildly elevated C-reactive protein levels (22.5 mg/L, reference range 0.0–10.0) and immeasurable creatine kinase (CK) activity. Neurological evaluation the next day revealed ambulatory tetraparesis, general proprioceptive deficits, mild ataxia and dubious diffuse myalgia. Withdrawal reflexes were weak on both thoracic and pelvic limbs. The CK was determined to be significantly elevated at that point (32.856 U/L, ref. range 10.0–200.0). Urinalysis revealed no abnormalities. An electromyographic (EMG) study of thoracic limb, paraspinal and pelvic limb muscles revealed no abnormalities. A magnetic resonance imaging (MRI) study of the cervicothoracic spinal cord was performed and revealed no abnormalities. A presumptive clinical diagnosis of rhabdomyolysis without myoglobinuria or EMG abnormalities was formed. Muscular biopsies were declined due to the rapid clinical improvement of the dog. A follow-up showed the progressive decline of CK activity to normal values and clinical remission of signs. A diagnosis of rhabdomyolysis was concluded based on clinical signs, consistent CK activity elevations and the response to supportive treatment for rhabdomyolysis, despite the absence of myoglobinuria and EMG abnormalities. Rhabdomyolysis should not be excluded based on the lack of EMG abnormalities or myoglobinuria in dogs.

The downer cow syndrome (DCS) is characterized by an alert cow showing inability or reluctance to stand for 12 hours or more. This paper reported clinical, laboratory, and pathological findings in a Guzerá heifer with rhabdomyolysis, pigmenturia and acute renal failure following DCS. A 17-month-old Guzerá heifer was transported via a 350-km ride in a truck and showed sternal recumbency and severe difficulty in standing and walking. Neurological examination was unremarkable, and the heifer presented normal response to cranial nerves and spinal cord tests. Rectal palpation revealed a 5-month gravid uterus. No other abnormalities were noted in the pelvis or around the coxofemoral joints. Biochemical abnormalities included extremely high muscular enzyme activities (creatine phosphokinase and aspartate aminotransferase) and high creatinine levels. Urinalysis revealed blackish and cloudy urine, proteinuria, and a positive occult blood test. Spinal cord ultrasonography showed no abnormalities. This report highlighted an uncommon clinical presentation (myoglobinuria) and pathological findings in a heifer with DCS as a consequence of severe compressive muscle damage. Practitioners and producers must be aware of the risk of careless road transportation for long distances of cattle, especially obese cows, avoiding unnecessary suffering and expenses due to DCS. [ABSTRACT FROM AUTHOR]

Objective: Unusual clinical course. Background: Rhabdomyolysis is a clinical syndrome that results from skeletal muscle breakdown and the release of intracellular enzymes into systemic circulation [1,2]. We present a case of non-traumatic rhabdomyolysis with transaminitis, without myoglobinuria or acute kidney injury. Cases reports of rhabdomyolysis with elevation of serum creatine kinase (hyperCKemia) in the absence of myoglobinuria or renal failure are limited in the literature. Case Report: A 21-year-old man presented to the Emergency Department following an acute psychotic episode. One week earlier, his bloodwork had been within normal limits. Biochemical investigations on admission revealed hyper-CKemia (590 000 U/L), transaminitis (AST, 628; ALT, 160), and normal creatinine (0.83), without myoglobinuria. Non-traumatic rhabdomyolysis was suspected, and the patient was treated with aggressive intravenous fluid resuscitation and transferred to Inpatient Psychiatry on day 10 of hospitalization. The complete metabolic panel was trended daily, without indication of kidney injury. The creatine kinase (CK) and liver function tests trended downward. Conclusions: This report presents a rare case of exertional rhabdomyolysis with CK levels nearly 3000 times the upper limit of normal, without myoglobinuria or acute kidney injury. Acute kidney injury is a dangerous complication of rhabdomyolysis. Traditionally, clinicians use serum CK levels to predict the likelihood of acute kidney injury and/or renal failure in rhabdomyolysis. Ultimately, this patient was diagnosed with exertional rhabdomyolysis with hyperCKemia and transaminitis without myoglobinuria or acute kidney injury. More research is needed to elucidate the protective patient characteristics against rhabdomyolysis-associated acute kidney injury, associations between CK and myoglobinuria, and diagnostic criteria for psychosis-associated hyperCKemia. [ABSTRACT FROM AUTHOR]

L'observation des urines à des fins diagnostiques, dont l'origine remonte à l'Égypte ancienne, est une pratique médicale toujours pertinente en médecine moderne. Plusieurs maladies portent le nom de la couleur observée et témoignent de la valeur sémiologique des urines : la maladie des langes bleus, le syndrome de la poche à urines violettes, la maladie des urines noires ou encore les porphyries. Une coloration anormale des urines peut poser quelques difficultés diagnostiques pour le clinicien : elle peut révéler une maladie néoplasique (cancer urologique ; mélanome), une lyse cellulaire (rhabdomyolyse ; hémolyse), une infection (filariose lymphatique ; paludisme), un déficit enzymatique (porphyries ; alcaptonurie) ou être simplement le témoin d'une prise médicamenteuse ou alimentaire particulière. Nous abordons dans cet article la démarche diagnostique, les mécanismes physiopathologiques et les principales étiologies à évoquer devant une coloration anormale des urines. Looking at the urine for diagnostic purposes, once performed by ancient Egyptians, can still provide some valuable clues in modern medicine. Several diseases have been named after their associated urine color and this underlines the clinical value of visual urine inspection: blue diaper disease, purple urine bag syndrome, black urine disease or porphyria. Abnormal urine color could be challenging for the clinician: it may reveal neoplastic disease (urologic cancer; melanoma), cell lysis (rhabdomyolysis; hemolysis), infection (lymphatic filariasis; malaria), enzyme deficiency (porphyria; alkaptonuria), medication or food intake. In this article, we present the diagnostic approach, the mechanisms involved and the main causes of abnormal urine color. [ABSTRACT FROM AUTHOR]

Urine protein electrophoresis is often required for diagnosis and monitoring of urological or renal diseases and lymphoid hemopathies. We here report an uncommon urine protein electrophoresis result. The test was performed using agarose gel electrophoresis and capillary electrophoresis. It was a monoclonal peak of unknown significance migrating with gammaglobulins. Scientific literature and the tests performed demonstrated that it was myoglobin. In fact, myoglobin (17 kDa) is freely filtered by the glomerulus and normally reabsorbed by the tubules. If tubule capacity for reabsorption is exceeded, its presence results in overcharging proteinuria. Myoglobinuria helped diagnose rhabdomyolysis in our patient. Thus, the analysis of unknown peaks, can provide information on symptoms but also underlying pathologies, which may be of clinical interest. [ABSTRACT FROM AUTHOR]

The purpose of this case was to report the impact of early use of high-volume hemofiltration on a previously healthy male admitted after sustaining a high-voltage electrical injury. Initial labs revealed acute kidney injury secondary to rhabdomyolysis with myoglobinuria. The patient required fasciotomies to the three affected extremities and a right above the elbow amputation. Aggressive fluid resuscitation failed to maintain urine output above 20 mL/h. By 24 h, the patient had a 12.8 L positive fluid balance. High-volume hemofiltration was initiated at 60 mL/kg/h using a system with a high cut-off filter for acute kidney injury and volume management. Urine myoglobin was negative by day 3 and serum myoglobin decreased to 221.46 nmol/L. He was extubated on day 5, achieved euvolemia on day 6, and high-volume hemofiltration was discontinued on day 13 with subsequent full renal recovery. He underwent several staged surgeries for burn wound excision and grafting, and the left lower extremity was salvaged. His length of stay was prolonged due to multiple social barriers, but free of sepsis and pneumonia. Early initiation of high-volume hemofiltration with a high cut-off filter helped to expedite removal of acute kidney injury and enable more effective volume management to minimize complications of high-voltage electrical injury and its treatment and likely improve outcomes.

McArdle's disease, also known as glycogen storage disease type V or McArdle syndrome, is a pure muscle myopathy with an autosomal recessive inheritance pattern. It is caused by mutations in the gene that encodes muscle phosphorylase. Symptoms typically begin in late adolescence or early adulthood, presenting as exercise intolerance. This review focuses on the diagnosis of McArdle's disease, initially manifesting as a clinical picture of rhabdomyolysis in an 18-year-old male patient with a history of minor thalassemia who had been followed in pediatric consultation since age three for failure to thrive. After excluding common causes such as alcohol consumption, drug use, traumatic muscle compression, and other conditions, the diagnosis of McArdle's disease was considered. The diagnosis was supported by laboratory tests showing myoglobinuria and elevated creatine kinase levels, as well as the absence of increased serum lactate following ischemic exercise. Genetic testing confirmed the presence of mutations in the PYGM gene, corroborating the diagnosis. Treatment includes administering a diet rich in slow-absorbing carbohydrates, regular low-intensity physical exercise, and, in some cases, supplementation with vitamin B6 and creatine. The prognosis is generally favorable with proper disease management, although vigorous exercise should be avoided to prevent complications such as severe muscle injury and rhabdomyolysis. Although McArdle's disease is a rare condition, it is likely underdiagnosed. Ideally, it should be considered in the differential diagnosis of rhabdomyolysis in all patients with symptoms of exercise intolerance and/or recurrent myoglobinuria., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Nascimento et al.)

This study delves into the rare occurrence of rhabdomyolysis induced by wasp stings, emphasizing its toxic systemic repercussions. Drawing parallels with documented instances of insect bites worldwide, including those by honey bees and Africanized bees, the research explores the correlation between multiple wasp stings and acute renal failure associated with rhabdomyolysis. The venom's active components, such as amines, kinins, and histamine-releasing peptides, underpin toxic systemic reactions, leading to hemolysis, coagulopathy, and severe cytotoxicity-induced acute renal failure. Noteworthy is the emergence of blackish necroses at the sting site, suggesting intense cytotoxicity. The study also highlights skin necrosis as a prognostic indicator for toxic systemic reactions. The presented case manifests an anaphylaxis-like reaction, revealing insights into toxic responses devoid of IgE-mediated allergic reactions. Timely intervention, encompassing hydration, transfusion, and dialytic support, proves imperative in scenarios involving multiple wasp stings, offering successful outcomes documented through plasma exchange in severe cases. This research prompts considerations beyond anaphylaxis, urging exploration of severe toxic systemic reactions in the context of multiple wasp stings., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kurmana et al.)

Red-colored urine occurring in the intraoperative and early postoperative periods after cardiac surgery is often a cause for concern. This observation may be a result of hematuria from pathology within the urinary tract, anticoagulant-related nephropathy, drug-induced acute interstitial nephropathy, excretion of heme pigment–containing proteins, such as myoglobin and hemoglobin, and hemolysis occurring during extracorporeal circulation. Within the kidneys, heme-containing compounds result in pigment nephropathy, which is a significant contributory factor to cardiac surgery–associated acute kidney injury. Concerted efforts to reduce red blood cell damage during cardiopulmonary bypass, together with early recognition of the at-risk patient and the institution of prompt therapeutic intervention, may improve outcomes. This review addresses the diagnosis, causes, and management of red-discolored urine occurring during and after cardiac surgery. [ABSTRACT FROM AUTHOR]

Background: Our study aimed to determine the prevalence of acute kidney injury (AKI) in pediatric non-traumatic rhabdomyolysis, and to identify factors associated with its development. Methods: Clinical information and laboratory tests of children with rhabdomyolysis who were admitted between 2009 and 2018 were reviewed retrospectively. Rhabdomyolysis was defined by a peak serum creatine kinase (CK) level > 1000 IU/L within the first 72 h of admission. The primary outcome was the occurrence of AKI within the first 7 days of admission, which was determined by the KDIGO criteria. Results: A total of 54 patients with a median age of 7.8 years old were included. Ten (18.5%) patients developed AKI. AKI was relatively rare in children with viral myositis (2.6%), whereas all patients with rhabdomyolysis related to seizure or irritability/dystonia developed AKI. Patients with AKI had higher white cell count (10.6 vs. 4.5 × 109/L) and lower serum bicarbonate (19.4 vs. 25.5 mmol/L) on admission, with higher peak serum CK (23,086.0 vs. 3959.5 IU/L). The AKI group was more likely to present with positive urine results (myoglobinuria, dipstick heme or protein ≥ 2+). Peak serum CK had a good discriminatory power for stage 2–3 AKI (AUC 0.930, p = 0.005), with an optimal cut-off of 15,000 IU/L identified from the ROC analysis. Conclusions: The overall prevalence of AKI in pediatric non-traumatic rhabdomyolysis was 18.5%. Positive urine tests (myoglobinuria, dipstick heme or protein ≥ 2+), high white cell count, lower serum bicarbonate on admission, and high peak serum CK were associated with development of AKI. [ABSTRACT FROM AUTHOR]

ABSTRACT: The downer cow syndrome (DCS) is characterized by an alert cow showing inability or reluctance to stand for 12 hours or more. This paper reported clinical, laboratory, and pathological findings in a Guzerá heifer with rhabdomyolysis, pigmenturia and acute renal failure following DCS. A 17-month-old Guzerá heifer was transported via a 350-km ride in a truck and showed sternal recumbency and severe difficulty in standing and walking. Neurological examination was unremarkable, and the heifer presented normal response to cranial nerves and spinal cord tests. Rectal palpation revealed a 5-month gravid uterus. No other abnormalities were noted in the pelvis or around the coxofemoral joints. Biochemical abnormalities included extremely high muscular enzyme activities (creatine phosphokinase and aspartate aminotransferase) and high creatinine levels. Urinalysis revealed blackish and cloudy urine, proteinuria, and a positive occult blood test. Spinal cord ultrasonography showed no abnormalities. This report highlighted an uncommon clinical presentation (myoglobinuria) and pathological findings in a heifer with DCS as a consequence of severe compressive muscle damage. Practitioners and producers must be aware of the risk of careless road transportation for long distances of cattle, especially obese cows, avoiding unnecessary suffering and expenses due to DCS.

Background: In professional soccer players (n = 27), confounders of quantitative myoglobinuria following physical training were assessed in order to improve interpretation of post-exercise myoglobinuria. Methods: Urine samples were collected in the morning before training sessions, 48 to 72 hours following a game. Urine myoglobin was assayed using immunoturbidimetry. Blood was drawn 48 hours following training session. Creatinine was assayed using a Jaffe method. Creatine kinase (CK) activity was assayed according to the IFCC reference method. Serum myoglobin was assayed using the same assay as the one used for urine. Hp polymorphism was assessed on hemoglobin supplemented serum. Serum Hp concentration was assayed nephelometrically. Training intensity was assessed using a wearable GPS tracking system. Physical load monitoring included the covered total distance, the distance at different speed zones, and the number of sprints/accelerations/decelerations/jumps. Multiple regression analysis was used to detect the determinants of post-exercise myoglobinuria. Results: Myoglobinuria negatively correlated with serum haptoglobin (Hp) concentration. Athletes presented with Hp values, which were lower than the Hp phenotype reference ranges, which can be explained by depletion of circulating Hp stores. Myoglobinuria was most pronounced in players carrying a Hp 2-2 phenotype, which is associated with the lowest Hp reference range. Myoglobin clearance was inversely correlated with Hp 2-2 concentration. Correlation between myoglobinuria and biomarkers of muscle damage was weak. Neither age nor glomerular filtration rate were found to be confounders of myoglobinuria. When comparing myoglobinuria with training intensity, the number of sprints, average acceleration speed, and maximal speed were determining factors for predicting exercise-induced myoglobinuria. Conclusions: In athletes, plasma myoglobin binding capacity is depleted. Moderate myoglobinuria not only should be regarded as a muscle damage marker, but also should be interpreted as an indicator for Hp depletion. Apart from its significance as a biomarker for muscle damage and rhabdomyolysis, myoglobinuria in athletes should be a warning that the heme binding capacity of plasma Hp is depleted, indicating an exhausted defense against Fenton chemistry induced free radicals. Fenton chemistry is associated with free radical formation, which is to be avoided because of the causative relationship with inflammatory processes and tissue damage. [ABSTRACT FROM AUTHOR]

Pigment cast nephropathy is one of the most severe complications of rhabdomyolysis. It is an important cause of renal failure requiring renal replacement therapy. We report the case of a 23-year-old man who presented with short febrile illness with hyperpyrexia and altered sensorium. Non-contrast CT-brain and CSF analysis were normal. He later developed petechial rashes with thrombocytopenia followed by frank hematuria and worsening renal functions. A kidney biopsy was performed, which revealed findings of myoglobin cast nephropathy

Pigment cast nephropathy is one of the most severe complications of rhabdomyolysis. It is an important cause of renal failure requiring renal replacement therapy. We report the case of a 23-year-old man who presented with short febrile illness with hyperpyrexia and altered sensorium. Non-contrast CT-brain and CSF analysis were normal. He later developed petechial rashes with thrombocytopenia followed by frank hematuria and worsening renal functions. A kidney biopsy was performed, which revealed findings of myoglobin cast nephropathy. [ABSTRACT FROM AUTHOR]

Aim: Rhabdomyolysis (RML) is a clinical and biochemical syndrome caused by acute necrosis of striated muscle fibers and the subsequent transportation of potentially toxic cellular contents into the systemic circulation. In this study, we present data from rhabdomyolysis patients that developed acute renal failure who were hospitalized and treated in our clinic in 2019. Materials and Methods: We reviewed all cases of RML treated in the tertiary hospital within a 12-month period, which was defined as serum creatinine kinase (CK) levels > five times the upper normal limit. The inclusion criteria were as follow: (a) being aged ≥ 18 years, (b) being treated for RML within the designated time period, (c) AKI development. The exclusion criteria are as follows: (a) being aged <18 years, (b) patients without AKI, (c) patients with End Stage Renal Disease(ESRD), (d) patients with neuromuscular diseases. Among a total of 583 patients with CK > 5 time upper normal limit (UNL), 14 conformed to the inclusion criteria and were selected as subjects Results: A total of 14 patients were included in the study, 12 of which were male. The mean age of the patients was 48.1 (18–80). The etiologies were as follows: hypothyroidism, 3; prolonged exposure to sun, 2; electrolyte imbalance due to severe diarrhea, 1; viral upper respiratory tract infection (URTI), 3; intramuscular injection, 1; heavy exercise or falls. Conclusion: Rhabdomyolysis is an interdisciplinary clinical condition that can lead to life-threatening outcomes including AKI. Rapid diagnosis and treatment can be life-saving. AKI is a significant potential complication of RML and renal function should be evaluated irrespective of CK levels or the presence of myoglobinuria. [ABSTRACT FROM AUTHOR]

The novel SARS-CoV-2 introduced several new inflammatory conditions including SARS-CoV-2-associated rhabdomyolysis and viral myositis. We present a 22-year-old man who noted a week of cough followed by myalgias, dark-colored urine, and decreased oral intake. He was found to have acute nontraumatic rhabdomyolysis after an acutely positive SARS-CoV-2 test. Initial creatine kinase (CK) level was above the reference range as were liver enzymes reflective of muscle breakdown. Treatment involved fluid resuscitation and pain control, with close monitoring of kidney, liver, and skeletal markers over five days of hospitalization till there was clinical and symptomatic improvement., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. The Clinical Research Center issued approval CRI #209. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Dye et al.)

Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Case presentation Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed. Conclusions To the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.

Rhabdomyolysis is the breakdown of striated muscle cells resulting in leakage of cell matter into the extra-cellular space. It can present with myalgia, muscle weakness and swelling. Episodes of passing of dark tea-coloured urine have also been reported. Raised creatinine kinase is diagnostic of rhabdomyolysis. Raised serum myoglobin levels and presence of myoglobin in the urine (myoglobinuria) help to support the diagnosis. The aetiology for rhabdomyolysis can be both traumatic and non-traumatic. In the case of trauma, individuals with crush injuries trapped in cars or under collapsed buildings , struggling against restraints, immobilized and in the same position for hours due to injuries, comatosed states or positioning during prolonged surgeries and those with high voltage electrical injuries are at increased risk of rhabdomyolysis. Non-traumatic causes of rhabdomyolysis include hyperthermia, metabolic myopathies, drugs and toxins ingestions, electrolyte abnormalities and infections. The mechanism of rhabdomyolysis is often multifactorial. In the case of trauma, direct injury to cell membranes as well as hypoxia from direct compression leading to adenosine triphosphate depletion leads to breakdown of striated muscle cells.. The lysed cells release myoglobin, creatine kinase, urate and phosphate into the interstitium. Direct heme protein-induced toxicity on nephrons can result in acute kidney injury. We report a case of traumatic rhabdomyolysis and share the latest in the literature on the understanding of the subject as well as that of myoglobinuria, with which it is often associated with.

Objectives Rhabdomyolysis is defined as a clinical syndrome due to skeletal muscle injury resulting in the release of muscular cell constituents into the circulation. There is a varied spectrum of severity of rhabdomyolysis. The purpose of this study was to analyse the incidence, aetiologies, biochemical variables and complications in patients with rhabdomyolysis at a regional tertiary hospital over a 10-year period. Methods A retrospective review of patients from May 2006 to May 2016 with a diagnosis of rhabdomyolysis was undertaken. An episode of rhabdomyolysis was defined as acute elevation of serum creatine kinase (CK) value greater than five times the upper limit of normal (>1000U/L). Data extracted included: patient demographics, aetiology of rhabdomyolysis, peak serum CK, renal function, use of kidney replacement therapy (KRT) and death. Results Of the 631 patients identified, 248 were excluded based on: a diagnosis of myocardial or cerebral infarction; serum CK levels not meeting the criteria for rhabdomyolysis; and duplicated or inadequate data from medical records. A total of 383 patients, 220 males and 163 females, of median age 71 years, were analysed. The leading cause of rhabdomyolysis was prolonged immobility (71.5%). 194 patients (50.7%) developed an acute kidney injury (AKI), 9.9% required KRT, and 7.6% died. Conclusion In this 10-year review of 383 cases of rhabdomyolysis, the most common cause was prolonged immobility, rhabdomyolysis was more common among males, and half of the patients developed an AKI. [ABSTRACT FROM AUTHOR]