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https://www.readbyqxmd.com/read/29744303/recurrent-rhabdomyolysis-caused-by-carnitine-palmitoyltransferase-ii-deficiency-common-but-under-recognised-lessons-to-be-learnt
#1
M Balasubramanian, T M Jenkins, R J Kirk, I M Nesbitt, S E Olpin, M Hill, G T Gillett
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#2
Nikola Gjorgjievski, Pavlina Dzekova-Vidimliski, Zvezdana Petronijevic, Gjulsen Selim, Petar Dejanov, Liljana Tozija, Aleksandar Sikole
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness. CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured)...
April 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29493437/severe-acute-kidney-injury-owing-to-rhabdomyolysis-and-intravascular-haemolysis-in-an-11-year-old-child-with-g6pd-deficiency
#3
Milan Talwar, Sriram Krishnamurthy, Narayanan Parameswaran, C G Delhikumar, Satish Haridasan, Bheemanathi Hanuman Srinivas
Glucose-6-phosphate dehydrogenase (G6PD) deficiency leading to acute intravascular haemolysis and acute kidney injury (AKI) is a known clinical presentation. However, there is a paucity of information regarding the occurrence of rhabdomyolysis and myoglobinuria in G6PD-deficient individuals, especially children. An 11-year-old south Indian Tamil girl presented with severe anaemia and anuric AKI following a short febrile illness. Investigations demonstrated evidence of intravascular haemolysis and rhabdomyolysis, and on histopathology myoglobin deposits (casts) were detected in the renal tubules...
March 1, 2018: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/29461948/case-251-nontraumatic-drug-associated-rhabdomyolysis-of-head-and-neck-muscles
#4
Alexandre Debelmas, Déborah Benchetrit, Damien Galanaud, Roman H Khonsari
History A 21-year-old man with a history of abuse of multiple drugs and mild cognitive impairment who initially underwent treatment for excited delirium developed respiratory arrest shortly after admission and was successfully resuscitated. Unenhanced computed tomography (CT) of the head and neck and contrast material-enhanced CT of the chest, abdomen, pelvis, and complete spine were performed shortly after the initial treatment. Head and neck magnetic resonance (MR) imaging was performed 24 hours after admission...
March 2018: Radiology
https://www.readbyqxmd.com/read/29420397/exercise-induced-abdominal-wall-muscle-injury-resulting-in-rhabdomyolysis-and-mimicking-an-acute-abdomen
#5
Charlene G Echague, John M Csokmay
BACKGROUND: Rhabdomyolysis is characterized by muscle necrosis and release of intracellular constituents, causing muscle pain, weakness, and myoglobinuria. This can be attributed to muscle injury after strenuous exercise. If the abdominal wall is involved, clinical presentation may resemble an acute abdomen. CASE: A 27-year-old woman, gravida 4 para 2, presented with swelling and pain of the mons pubis and abdominal pain after intense powerlifting 2 days prior. A computed tomography scan was performed, revealing abdominal wall inflammation...
March 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29210488/acute-polyneuromyopathy-with-respiratory-failure-secondary-to-monensin-intoxication-in-a-dog
#6
Luis Bosch, Alexa M Bersenas, Shane Bateman
OBJECTIVE: To describe a successfully managed case of polyneuropathy and respiratory failure secondary to presumed monensin intoxication. CASE SUMMARY: A 9-month-old Australian Shepherd was evaluated for progressive generalized weakness and respiratory distress. Several days preceding presentation, the dog was seen playing with a monensin capsule, and had free access to a barn where the product was stored and where chewed capsules were subsequently found. The dog was presented with flaccid tetraparesis, hyperthermia, and severe respiratory distress...
January 2018: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/29147573/risk-factors-for-exertional-rhabdomyolysis-with-renal-stress
#7
Terje Apeland, Tore Danielsen, Eva M Staal, Anders Åsberg, Inga S Thorsen, Tom Ole Dalsrud, Stein Ørn
Background: Exercise-induced rhabdomyolysis denotes the exertional damage of myocytes with leakage of sarcoplasmic content into the circulation. The purpose of this study was to determine important risk factors for the development of exertional rhabdomyolysis in a temperate climate and to study the renal effects of myoglobinuria. Methods: A cluster of eight military recruits was admitted to hospital due to exertional rhabdomyolysis with myoglobinuria. The patients were treated according to current guidelines with isotonic saline and alkalinisation of the urine...
2017: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/28994685/rhabdomyolysis-and-compartment-syndrome-in-a-bodybuilder-undergoing-minimally-invasive-cardiac-surgery
#8
Sebastian John Baxter, Madhusudan Rao Puchakayala, Vinayak N Bapat
Rhabdomyolysis is the result of skeletal muscle tissue injury and is characterized by elevated creatine kinase levels, muscle pain, and myoglobinuria. It is caused by crush injuries, hyperthermia, drugs, toxins, and abnormal metabolic states. This is often difficult to diagnose perioperatively and can result in renal failure and compartment syndrome if not promptly treated. We report a rare case of inadvertent rhabdomyolysis and compartment syndrome in a bodybuilder undergoing minimally invasive cardiac surgery...
October 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28985713/patients-with-glycogen-storage-diseases-undergoing-anesthesia-a-case-series
#9
Carmelina Gurrieri, Juraj Sprung, Toby N Weingarten, Mary E Warner
BACKGROUND: Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue. The objective of this study was to describe the perioperative course of a cohort of patients with glycogen storage diseases. METHODS: This is a retrospective review of patients with glycogen storage diseases undergoing anesthetic care at our institution from January 1, 1990, through June 30, 2015 to assess perioperative management and outcomes...
October 6, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#10
REVIEW
Mette Cathrine Ørngreen, John Vissing
Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options...
September 21, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28811700/primary-myoglobinuria-differentiate-myoglobinuria-from-hemoglobinuria
#11
Dhiraj J Trivedi, Shrirang P Kulkarni, Rakesh Mudaraddi
Myoglobin is dark red colour heme containing protein, stored in muscle. Change in permeability of myolemma causes myoglobin leak in plasma, which is cleared by kidney swiftly. Differentiating myoglobinuria from hemoglobinuria is important. Clinicians concern over myoglobinuria is to protect the patient from acute renal disease. We present a case of primary myoglobinuria, its clinical symptoms, diagnosis and treatment.
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28660497/mcardle-disease-a-pediatric-disorder-presenting-in-an-adult-with-acute-kidney-injury
#12
Xixi Zhao, Angela Li, Madhu Soni, Michael J Muriello, Carolyn H Jones, William L Whittier
Rhabdomyolysis is characterized by the acute breakdown of skeletal muscle, resulting in the release of muscle cell contents, subsequent myoglobinuria, and in severe cases, acute renal failure. A number of etiologies have been identified in acute rhabdomyolysis, in which drugs and trauma account for the majority of cases. One etiological category that is commonly overlooked in the adult population is an underlying genetic defect. This may be challenging to diagnose due to its rarity in the adult demographic and the marked heterogeneity, often requiring a high level of clinical suspicion before investigation is pursued...
November 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28580215/a-novel-pgk1-mutation-associated-with-neurological-dysfunction-and-the-absence-of-episodes-of-hemolytic-anemia-or-myoglobinuria
#13
Shigeto Matsumaru, Hirokazu Oguni, Hiromi Ogura, Keiko Shimojima, Satoru Nagata, Hitoshi Kanno, Toshiyuki Yamamoto
Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous PGK1 mutation (p.V217I) in a 16-year-old Japanese male patient presenting with intellectual disability and episodes of muscle weakness of unknown etiology. Enzymatic analysis demonstrated slightly lower RBC-PGK activity and compensatory increases of other glycolysis enzymes. This is the first PGK1 mutation found through next-generation sequencing...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28534001/frequency-of-acute-hepatitis-following-acute-paraphenylene-diamine-intoxication
#14
Rizwan Ishtiaq, Sadaf Shafiq, Ali Imran, Qazi Masroor Ali, Raheel Khan, Hassan Tariq, Daniyal Ishtiaq
INTRODUCTION: Paraphenylene diamine (PPD) ingestion is manifesting as one of the more common ways of committing suicide in Southern Punjab, Pakistan, especially Bahawalpur. PPD is an ingredient of a compound commonly known "Kala Pathar" which means "Black Stone" in Urdu. It is readily available in the market at low cost and is used to dye hair and fur. Its intoxication inhibits cellular oxidation and affects the muscles causing rhabdomyolysis. This leads to myoglobinuria followed by renal failure and edema of face and throat resulting in respiratory difficulty...
April 21, 2017: Curēus
https://www.readbyqxmd.com/read/28500193/viral-myositis-in-children
#15
Haley Magee, Ran D Goldman
Question I recently evaluated a child in my clinic after an emergency department visit where she presented having woken up that morning refusing to walk and was crawling around the house. The parents reported she was getting over a cold, and I recall similar cases of myositis during the H1N1 influenza epidemic a few years ago. What are the key features of myositis that I should recognize? Which investigations are needed to confirm the diagnosis and how should affected patients be managed? Answer Benign acute childhood myositis is a mild and self-limited sudden onset of lower extremity pain during or following recovery from a viral illness...
May 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28456886/mutations-in-gmppb-presenting-with-pseudometabolic-myopathy
#16
Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Paola Lanteri, Lucia Sciarretta, Carlo Minetti, Filippo M Santorelli, Claudio Bruno
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular dystrophy, brain malformations, and generalized epilepsy. However, a wide spectrum of clinical severity has been described ranging from classical CMD presentation to children with mild, yet progressive LGMD with or without intellectual disability...
April 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28358521/update-exertional-rhabdomyolysis-active-component-u-s-armed-forces-2012-2016
#17
(no author information available yet)
Among active component service members in 2016, there were 525 incident diagnoses of rhabdomyolysis likely due to physical exertion and/or heat stress ("exertional rhabdomyolysis"). The crude incidence rate in 2016 was 40.7 cases per 100,000 person-years. Annual rates of incident diagnoses of exertional rhabdomyolysis increased 46.2% between 2013 and 2016, with the greatest percentage change occurring between 2014 and 2015. In 2016, relative to their respective counterparts, the highest incidence rates of exertional rhabdomyolysis affected service members who were male; younger than 20 years of age; and black, non-Hispanic...
March 2017: MSMR
https://www.readbyqxmd.com/read/28321398/unveiling-the-metabolic-changes-on-muscle-cell-metabolism-underlying-p-phenylenediamine-toxicity
#18
Igor Marín de Mas, Silvia Marín, Gisela Pachón, Juan C Rodríguez-Prados, Pedro Vizán, Josep J Centelles, Romà Tauler, Amaya Azqueta, Vitaly Selivanov, Adela López de Ceraín, Marta Cascante
Rhabdomyolysis is a disorder characterized by acute damage of the sarcolemma of the skeletal muscle leading to release of potentially toxic muscle cell components into the circulation, most notably creatine phosphokinase (CK) and myoglobulin, and is frequently accompanied by myoglobinuria. In the present work, we evaluated the toxicity of p-phenylenediamine (PPD), a main component of hair dyes which is reported to induce rhabdomyolysis. We studied the metabolic effect of this compound in vivo with Wistar rats and in vitro with C2C12 muscle cells...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28284391/neuromuscular-manifestations-in-mitochondrial-diseases-in-children
#19
REVIEW
Andrés Nascimento, Carlos Ortez, Cristina Jou, Mar O'Callaghan, Federico Ramos, Àngels Garcia-Cazorla
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28271645/severe-fever-with-thrombocytopenia-syndrome-presenting-with-rhabdomyolysis
#20
Min Gu Kim, Jiwon Jung, Sang Bum Hong, Sang Oh Lee, Sang Ho Choi, Yang Soo Kim, Jun Hee Woo, Sung Han Kim
Severe fever with thrombocytopenia syndrome (SFTS) is an emerging febrile illness. While many kinds of severe complications including acute renal failure have been reported, rhabdomyolysis is rarely reported in association with SFTS. A 54-year-old female farmer was admitted with fever and diffuse myalgia. Laboratory finding showed thrombocytopenia, leukopenia, azotemia, extremely elevated muscle enzyme levels and myoglobinuria. We describe a fatal case of rhabdomyolysis with acute renal failure complicated by SFTS...
March 2017: Infection & Chemotherapy
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