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https://www.readbyqxmd.com/read/28580215/a-novel-pgk1-mutation-associated-with-neurological-dysfunction-and-the-absence-of-episodes-of-hemolytic-anemia-or-myoglobinuria
#1
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
#2
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
#3
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
#4
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
#5
(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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28123920/spinning-out-of-control-a-19-year-old-female-with-spinning-related-exertional-thigh-compartment-syndrome
#9
Daniel J Gould, Ido Badash, Sukgu Han, Alex K Wong
Thigh compartment syndrome (TCS) is a rare condition caused by high pressures within the fascial compartments of the thigh, impeding capillary flow and leading to decreased perfusion, tissue hypoxia, and necrosis. TCS is most frequently associated with trauma and anticoagulation but has also rarely been associated with exercise-related injury. We present the case of a 19-year-old female who reported painful swelling in her thighs and darkening of her urine after participating in a spinning class. On physical examination, the patient was found to have tight, painful thigh compartments with extreme tenderness on passive motion...
December 24, 2016: Curēus
https://www.readbyqxmd.com/read/28045721/case-report-red-urine-after-day-care-strabismus-surgery
#10
Pregardien Caroline, Nassogne Marie-Cécile, Yuksel Demet, Veyckemans Francis
In the absence of surgery on the urinary tract, the emission of red urine after anesthesia should be considered as a diagnostic emergency because it can be a sign of hematuria, hemoglobinuria, blood transfusion reaction, significant myoglobinuria, or porphyria.This case describes the management of a 12-year-old boy who presented red urine at the day care unit after strabismus surgery.
February 15, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/27987333/ritodrine-induced-rhabdomyolysis-infantile-myotonic-dystrophy-and-maternal-myotonic-dystrophy-unveiled
#11
Manabu Ogoyama, Hironori Takahashi, Yukako Kobayashi, Rie Usui, Shigeki Matsubara
A primiparous pregnant woman in remission of myositis suffered very acute-onset ritodrine-induced rhabdomyolysis. At 29 gestational weeks, ritodrine was administered for threatened preterm labor. Just 3 h later, she complained of severe limb muscle pain, with serum creatinine phosphokinase elevated to 32 019 U/L and myoglobinuria. The muscle pain disappeared immediately after ceasing administration of ritodrine. At 31 weeks, premature rupture of the membranes occurred, necessitating cesarean section, yielding a baby with weak tonus, and the presence of infantile muscle diseases was suspected...
February 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27900193/exertional-rhabdomyolysis-physiological-response-or-manifestation-of-an-underlying-myopathy
#12
Renata S Scalco, Marc Snoeck, Ros Quinlivan, Susan Treves, Pascal Laforét, Heinz Jungbluth, Nicol C Voermans
Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild cases may remain unnoticed or undiagnosed. Exertional rhabdomyolysis is well described among athletes and military personnel, but may occur in anybody exposed to unaccustomed exercise. In contrast, exertional rhabdomyolysis may be the first manifestation of a genetic muscle disease that lowers the exercise threshold for developing muscle breakdown...
2016: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#13
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27862037/early-onset-limb-girdle-muscular-dystrophy-2l-in-a-female-athlete
#14
Patrick R Blackburn, Duygu Selcen, Jessica L Jackson, Kimberly J Guthrie, Margot A Cousin, Nicole J Boczek, Kristin E Clift, Eric W Klee, Elliot L Dimberg, Paldeep S Atwal
No abstract text is available yet for this article.
May 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27843860/rhabdomyolysis-in-dak-bum-devotees-a-case-series
#15
Sonia Singh, Pankaj Hans
INTRODUCTION: India is a land of culture and heritage always known for its rituals. The devotees offer their prayers in the form of fasting, sacrifices and many other difficult ways to please Almighty! While doing so they often endanger their lives. Rhabdomyolysis, in a particular group of devotees of Bihar/Jharkhand known as Dak-Bum, is a life-threatening clinical entity which occurs in these devotees who travel a long distance in a short period in a fasting state. Rhabdomyolysis detected by myoglobinuria can lead to acute kidney injury and mortality...
April 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/27703296/rhabdomyolysis-in-critically-ill-surgical-patients
#16
Biljana Kuzmanovska, Emilija Cvetkovska, Igor Kuzmanovski, Nikola Jankulovski, Mirjana Shosholcheva, Andrijan Kartalov, Tatjana Spirovska
INTRODUCTION: Rhabdomyolysis is a syndrome of injury of skeletal muscles associated with myoglobinuria, muscle weakness, electrolyte imbalance and often, acute kidney injury as severe complication. THE AIM: of this study is to detect the incidence of rhabdomyolysis in critically ill patients in the surgical intensive care unit (ICU), and to raise awareness of this medical condition and its treatment among the clinicians. MATERIAL AND METHODS: A retrospective review of all surgical and trauma patients admitted to surgical ICU of the University Surgical Clinic "Mother Teresa" in Skopje, Macedonia, from January 1(st) till December 31(st) 2015 was performed...
July 27, 2016: Medical Archives
https://www.readbyqxmd.com/read/27633384/clinical-protocol-for-the-management-of-malignant-hyperthermia
#17
A Kollmann-Camaiora, E Alsina, A Domínguez, B Del Blanco, M J Yepes, J L Guerrero, A García
Malignant hyperthermia is a hypermetabolic syndrome that appears in susceptible patients after exposure to certain anaesthetic drugs (succinylcholine, inhalation anaesthetics). Its incidence in Spain is 1 in 40,000 adults, with a 10% mortality rate. It is induced by an abnormal regulation of the ryanodine receptors, producing a massive release of calcium from the sarcoplasmic reticulum in the striate muscle. Clinical manifestations include: CO2 increase, tachycardia, haemodynamic instability, metabolic and respiratory acidosis, profuse sweating, hyperpyrexia, CPK increase, myoglobinuria, kidney failure, disseminated intravascular coagulation (DIC), and ending in cardiac arrest...
January 2017: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/27612597/phosphoglycerate-mutase-deficiency-glycogen-storage-disease-x-caused-by-a-novel-variant-in-pgam-m
#18
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27548740/outcome-of-benign-acute-childhood-myositis-the-experience-of-2-large-tertiary-care-pediatric-hospitals
#19
Tom Rosenberg, Shmuel Heitner, Dennis Scolnik, Einav Levin Ben-Adiva, Ayelet Rimon, Miguel Glatstein
OBJECTIVE: The aims of the study were to determine the evolution of benign acute childhood myositis in children and to assess the relationship between creatine phosphokinase (CPK) values and myoglobinuria. STUDY DESIGN: A retrospective study of patients with benign acute childhood myositis seen in 2 tertiary care university-affiliated pediatric hospitals during overlapping 4-year periods. METHODS: Demographic data, historical details, clinical, and laboratory results were extracted from the charts of children younger than 16 years with a CPK greater than 3 times normal...
August 20, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27532656/treatment-of-exertional-rhabdomyolysis-in-athletes-a-systematic-review
#20
Sarah Manspeaker, Kelley Henderson, Dru Riddle
BACKGROUND: Exertional rhabdomyolysis (ER) is the breakdown of skeletal muscle tissue following intense physical activity that results in impairment of the cell membrane, which allows intracellular contents to be released into the bloodstream. Signs and symptoms include myalgia, myoglobinuria and increased creatine kinase (CK) levels. Athletes are vulnerable to this condition due to their increased level of physical activity. The severity and effects of this condition vary between individuals; however, all athletes are at risk of significant muscle damage, renal failure and perhaps death if not recognized and treated quickly...
June 2016: JBI Database of Systematic Reviews and Implementation Reports
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