Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rhabdomyolysis is a common and potentially lethal clinical syndrome that results from acute muscle fiber necrosis with leakage of muscle constituents into blood. Myoglobinuria is the most significant consequence, leading to acute renal failure (ARF) in 15%-33% of patients with rhabdomyolysis. Rhabdomyolysis occurs from inherited diseases, toxins, muscle compression or overexertion, or inflammatory processes, among other disorders. In some cases, no cause is found. We describe 475 patients from the Johns Hopkins Hospital inpatient records between January 1993 and December 2001 for the following discharge diagnosis codes: myoglobinuria, rhabdomyolysis, myopathy, toxic myopathy, malignant hyperthermia, neuroleptic malignant syndrome, and polymyositis. Of 1362 patients, 475 patients with an acute neuromuscular illness with serum creatine kinase (CK) more than 5 times the upper limit of normal (>975 IU/L) were included. Patients with recent myocardial infarction or stroke were excluded. The etiology was assigned by chart review. For all, the highest values of serum CK, serum creatinine and urine myoglobin, hemoglobin, and red blood cells were recorded. Forty-one patients had muscle biopsy within at least 2 months from the onset of rhabdomyolysis.Of the 475 patients, 151 were female and 324 were male (median age, 47 yr; range, 4-95 yr). Exogenous toxins were the most common cause of rhabdomyolysis, with illicit drugs, alcohol, and prescribed drugs responsible for 46%. Among the medical drugs, antipsychotics, statins, zidovudine, colchicine, selective serotonin reuptake inhibitors, and lithium were the most frequently involved. In 60% of all cases, multiple factors were present. In 11% of all cases, rhabdomyolysis was recurrent. Underlying myopathy or muscle metabolic defects were responsible for 10% of cases, in which there was a high percentage of recurrence, only 1 etiologic factor, and a low incidence of ARF. In 7%, no cause was found. ARF was present in 218 (46%) patients, and 16 died (3.4%). A linear correlation was found between CK and creatinine and between multiple factors and ARF, but there was no correlation between ARF and death or between multiple factors and death. Urine myoglobin detected by dipstick/ultrafiltration was positive in only 19%. Toxins are the most frequent cause of rhabdomyolysis, but in most cases more than 1 etiologic factor was present. Patients using illicit drugs or on prescribed polytherapy are at risk for rhabdomyolysis. The absence of urine myoglobin, by qualitative assay, does not exclude rhabdomyolysis. With appropriate care, death is rare.
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PMID:Rhabdomyolysis: an evaluation of 475 hospitalized patients. 1626 12

A 3-year-old Thai boy underwent open reduction and internal fixation with K-wire of condylar fracture of humerus under general anesthesia. The patients developed generalized muscle regidity, masseter muscle spasm, elevated creatinine kinase, high temperature (39.3 C), inappropriate tachycardia, and arterial base excess was more than-8 mEq/L. The clinical grading scale of diagnosis of malignant hyperthermia was 58 (grade D6; almost certain malignant hyperthermia). Succinylcholine has been identified as the trigger agent, as other possible trigger agents were not involved. The treatment included hyperventilation, external cooling and cold IV fluids without administration of dantrolene. The patient fully recovered and discharged on day 12. This case report showed an incidence of malignant hyperthermia of approximated 1:150,000 in Thai Anesthesia Incidents Study (THAI Study).
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PMID:Malignant hyperthermia: a case report in Thai Anesthesia Incidents Study (THAI Study). 1686 89

Neuroleptic malignant syndrome (NMS) is a rare disorder seen most often in patients exposed to antipsychotic medications. This syndrome is generally manifested by hyperthermia, muscle rigidity, autonomic instability, altered mental status, tremors, elevated serum creatinine phosphokinase and leucocytosis. It was first described by Delay during the 1960s. It is considered a medical emergency and is fatal if not promptly addressed. It is clinically relevant not only to psychiatrists but all clinicians since patients taking neuroleptics are seen by physicians from virtually every specialty. Relevant studies report a mortality rate of 10-20%. Conditions that share some features of NMS but have different treatment regimens include serotonergic syndrome, lethal catatonia, malignant hyperthermia, infections and various heat disorders. The importance of recognition and prompt intervention can not be overemphasized. Fever is a predominant symptom in NMS. The authors present an unusual case of NMS in a schizophrenic patient without fever who had been on aripiprazole. To date, there are only three possible reported cases of NMS related to aripiprazole. This case report serves to remind clinicians of the essential features in the diagnosis and management of NMS.
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PMID:A case report of neuroleptic malignant syndrome without fever in a patient given aripiprazole. 1701 30

We report an autopsy case of a man in his forties who died 2 days after taking an overdose of vegetamin. The autopsy findings were as follows: externally, the upper epidermis of some parts of the body had become loosened. The epidermis was easily detached from the dermis using the fingers. Viscous fluid adhered around the nose and mouth. The brain was edematous and weighed 1520 g. Skeletal muscle was discolored. The urine was a slightly red-tinged yellow. The organs showed congestion. Urine tests: urea nitrogen: 1.95 g/day; creatinine: 0.66 g/day; urine myoglobin: 1100 ng/mL. Blood level of drugs: phenobarbital: 38.2 microg/ml; promethazine: 2.22 microg/ml; chlorpromazine: 0.96 microg/ml. Immunohistochemistry identified myoglobin in the kidney. From these findings, his cause of death was considered to be vegetamin-induced neuroleptic malignant syndrome and rhabdomyolysis. Mutation of the ryanodine receptor 1 gene is associated with malignant hyperthermia. However, there was no mutation which causes amino acid substitution in the three hot-spot regions of the ryanodine receptor 1 gene. Partial deficiency of carnitine palmitoyltransferase II is the commonest cause of recurrent rhabdomyolysis in adults. The subject was found to be heterozygous for an amino acid exchange in exon 4, (1203)G-->A causing a (368)Val-->Ile amino acid substitution. It is necessary to examine other candidate gene mutations.
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PMID:Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: an autopsy case of neuroleptic malignant syndrome related to vegetamin. 1926 21


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