rhabdomyolysis exercise

Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE) is a rare cause of exertional acute kidney injury. The proposed mechanism of injury in ALPE is renovascular spasm, in the setting of oxidative stress and muscular damage, which creates a characteristic wedge-shaped infarction pattern on delayed imaging. Patients present with nausea, vomiting, loin or abdominal pain, and fatigue within 1-2 days of anaerobic exercise, associated with an acute rise in serum creatinine, which generally plateaus within 3 days...

Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There are over 20 types of GSD including the subtypes. This heterogeneous group of rare diseases represents inborn errors of carbohydrate metabolism and are classified based on the deficient enzyme and affected tissues...

BACKGROUND: There are two known types of exercise-induced acute renal failure. One is the long-known myoglobinuria-induced acute renal failure due to severe rhabdomyolysis, and the other is the recently recognized non-myoglobinuria-induced acute renal failure with mild rhabdomyolysis. Exercise-induced acute renal failure was first reported in 1982. Non-myoglobinuria-induced acute renal failure is associated with severe low back pain and patchy renal vasoconstriction, and it is termed post-exercise acute renal failure because it usually occurs hours after exercise...

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BACKGROUND: JNJ-73763989 (JNJ-3989), a small interfering RNA, targets all hepatitis B virus (HBV) RNAs, reducing all HBV proteins. JNJ-56136379 (JNJ-6379; also known as bersacapavir), a capsid assembly modulator, inhibits HBV replication. We aimed to evaluate the efficacy (ie, antiviral activity) and safety of these therapeutics in combination with nucleos(t)ide analogues in patients with chronic hepatitis B. METHODS: The REEF-1 multicentre, double-blind, active-controlled, randomised, phase 2b study was done at 108 hospitals or outpatient centres across 19 countries in Asia, Europe, and North and South America...

McArdle disease (glycogen storage disease type V; GSDV) is a rare genetic disease caused by the inability to break down glycogen in skeletal muscle due to a deficiency in myophosphorylase. Glycolysis is only partially blocked in GSDV, as muscle fibres can take up circulating glucose and convert it to glucose-6-phosphate downstream of the metabolic block. Because skeletal muscle predominantly relies on anaerobic energy during the first few minutes of transition from rest to activity, and throughout more intense activities, individuals with GSDV experience muscle fatigue/pain, tachypnea, and tachycardia during these activities...

Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are now better-known. In general the pathophysiology of metabolic myopathies needs to be better understood. Thanks to the advent of next-generation sequencing (NGS), genetic testing has replaced more invasive investigations and sophisticated enzymatic assays to reach a final diagnosis in many cases...

Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead to exercise intolerance, rhabdomyolysis, and weakness in children and adults, distinct from the severe forms that involve multiple-organ systems. These nonspecific, dynamic symptoms along with conditions that mimic metabolic myopathies can make diagnosis challenging. Clinicians can shorten the time to diagnosis by recognizing the typical clinical phenotypes and performing next generation sequencing...

Rhabdomyolysis is a triad syndrome of myalgia, muscle weakness and myoglobinuria due to muscle necrosis. Trauma, exertions, strenuous exercise, infections, metabolic and electrolyte disorders, drug overdoses, toxins and genetic defects are the most common causes of rhabdomyolysis. The etiologies of foot drop are diverse. A few cases of rhabdomyolysis-associated foot drop are reported in the literature. We present five patients with foot drop secondary to rhabdomyolysis; two underwent neurolysis and distal nerve transfer (superficial peroneal nerve to the deep peroneal nerve) surgeries and follow-up evaluations...

INTRODUCTION: Exertional heat stroke (EHS) is a medical emergency, occurring when the body generates more heat than it can dissipate, and frequently associated with exertional rhabdomyolysis (ERM). In the present study we aimed to (I) identify clinical features and risk factors, (II) describe current prehospital management, (III) investigate long-term outcomes including the impact on mental health, and review the guidance received during restarting activities. We hope that our approach will improve individual and organizational heat illness preparedness, and improve follow-up care...

BACKGROUND: Lipin-1 deficiency is a life-threatening disease that causes severe rhabdomyolysis (RM) and chronic symptoms associated with oxidative stress. In the absence of treatment, Hydroxychloroquine sulfate (HCQ) was administered to patients off label use on a compassionate basis in order to improve their physical conditions. METHODS: Eleven patients with LPIN1 mutations were treated with HCQ. Clinical and biological efficacy and tolerance were assessed, including pain and quality of life, physical capacities, cardiopulmonary parameters, creatine kinase levels and plasma proinflammatory cytokines...

UNLABELLED: Acute kidney injury (AKI) is a severe complication of rhabdomyolysis, a clinical syndrome characterized by the damage of skeletal muscle and the subsequent release of its breakdown products into the bloodstream. CASE PRESENTATION: A 32-year-old previously healthy male who had generalized body pain, dark-colored urine, nausea, and vomiting for 2 days, presented to the hospital after he performed a vigorous gym workout. Blood results revealed creatine kinase of 39 483 U/l (normal range: 1-171 U/l), myoglobin 224...

Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment. Carnitine palmitoytransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, with the adulthood form requiring additional external triggers...

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. MCAD is essential for fatty acid β-oxidation during hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores are exhausted during extended fasting and periods of increased energy demand. The inability to metabolize these fatty acids results in hypoketotic hypoglycemia and the accumulation of toxic partially metabolized fatty acids...

Acute kidney injury (AKI) is a serious medical condition that can have many causes, including rhabdomyolysis. Rhabdomyolysis is the breakdown of muscle tissue that can lead to the release of muscle fiber contents into the bloodstream. This can cause serious damage to the kidneys, leading to AKI. In this case, a young bodybuilder was diagnosed with rhabdomyolysis induced by AKI after consuming Ibuprofen for a casual fever. The etiology of AKI in rhabdomyolysis is complex, with multiple factors contributing to the development of the condition...

OBJECTIVE: Exertional rhabdomyolysis results from a breakdown of skeletal muscle cells after intense exercise in otherwise healthy patients, causing increased levels of creatine kinase (CK) or myoglobin, as well as urine dipstick positive for blood, and may result in kidney insufficiency. The aim of this study was to outline the current perspectives of exertional rhabdomyolysis in athletes and subsequent treatment based on the current literature. DATA SOURCES: We searched the MEDLINE/PubMed and Google databases for ([exercise] OR [exertional]) AND rhabdomyolysis following the PRISMA guidelines...

DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype, but variants in DTNA have not previously been associated with human skeletal muscle disease. We present 12 individuals from four unrelated families with two different monoallelic DTNA variants affecting the coiled-coil domain of α-dystrobrevin. The five affected individuals from family A harbor a c...

INTRODUCTION: Hypothyroidism-induced rhabdomyolysis without precipitating factors is extremely rare, particularly in pediatric patients. We describe a previously healthy adolescent boy who came to our institution with vague symptoms and was found to have rhabdomyolysis secondary to hypothyroidism due to Hashimoto thyroiditis. We also summarize previously published cases in children and adolescents. CASE PRESENTATION: A 16-year-old boy presented to the emergency department at Riley Hospital for Children with a two-week history of bilateral eye and lip swelling, fatigue and slowing of speech initially attributed to angioedema...

BACKGROUND: A diagnosis in acute abdomen may remain elusive especially when the cause is rare. We report this interesting case of a fighter pilot presenting with acute abdominal pain. The case posed significant challenges in reaching the correct diagnosis of abdominal crunch syndrome. The syndrome is rare with only seven reports in the literature so far. To the best of our knowledge, this is the first ever report of this condition in an aircrew. CASE REPORT: A 37-yr-old pilot presented with severe upper abdominal pain and sweating...

BACKGROUND: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype. OBJECTIVE: Description of the phenotypic spectrum and features of MLIP-related myopathy...