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Malignant hyperthermia is diagnosed on clinical grounds, but various laboratory investigations may prove confirmatory. These include a raised creatine kinase level, elevated potassium, increased phosphate (leading to decreased calcium) and—if determined—raised myoglobin; this is the result of damage to muscle cells.
Malignant hyperthermia has an incidence of between 1:10,000 and 1:250,000 worldwide, but 1:200 at Palmerston North Hospital due to a large family in the area carrying the gene for many generations. Stowell's work has largely concentrated on identifying the genetic basis for MH susceptibility, and developing genetic testing to replace the ...
One research priority is to determine the role and nature of malignant hyperthermia in FSS. Such knowledge would benefit possible surgical candidates and the anaesthesiology and surgical teams who would care for them. MH may also be triggered by stress in patients with muscular dystrophies. [45]
Hyperthermia is generally diagnosed by the combination of unexpectedly high body temperature and a history that supports hyperthermia instead of a fever. [2] Most commonly this means that the elevated temperature has occurred in a hot, humid environment (heat stroke) or in someone taking a drug for which hyperthermia is a known side effect ...
There is no specific treatment for central core disease. Certain triggering anesthetics must be avoided, and relatives should be screened for RYR1 mutations that cause malignant hyperthermia. [2] Research has shown that some patients may benefit from treatment with oral salbutamol. [6] [7]
Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an electrocardiogram (a long QT interval) and a tendency to abnormal heart rhythms ...
The diagnosis is suggested on patients with a history of drug exposure to the most common inducing agents such as strong antidopaminergic medications. [6] [40] The differential diagnosis includes serotonin syndrome, [41] encephalitis, toxic encephalopathy, status epilepticus, heat stroke, catatonia and malignant hyperthermia.
Diagnosis is based on a person's symptoms and history of medication use. [2] Other conditions that can produce similar symptoms such as neuroleptic malignant syndrome, malignant hyperthermia, anticholinergic toxicity, heat stroke, and meningitis should be ruled out. [2] No laboratory tests can confirm the diagnosis. [2]