By Alan J. Schwartz
ASA Refresher classes in Anesthesiology is the most important promoting annual ebook in its box. every one new quantity comprises as much as twenty entire and edited peer-reviewed lectures on themes of present medical curiosity which are chosen from local and nationwide ASA Refresher direction lectures.
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Yet some of the mutations in RYR1 are associated with central core disease, a chronic slowly progressive myopathy (Table 1). Chronic treatment with low-dose oral dantrolene was prescribed in the past for some MHS individuals. The risks and benefits of this therapy are yet to be demonstrated. TABLE 1. Some Genotypes of RYR1 Associated with Malignant Hyperthermia Susceptibility CCD EMHG Incidence Exon Mutation RYR1 aa 6 11 17 39 39 45 45 C487T G1021A C1840T G6488A G6502A G7303A G7307T R163C + 2–7% G341R 6–17% R614C 4–45% R2163H + 1% V2168M + 8% G2434R 4–10% R2435H + 2–3% Greatest Contractures Central core disease identified, + NAMHR No.
Am J Hum Genet 1997; 60:1316–25. 16. : North American malignant hyperthermia population: Screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology 2001; 95:594–9. 17. : Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population. Anesthesiology 2005 (In press). 18. Sei Y, Sambuughin N, Muldoon S: Malignant hyperthermia genetic testing in North America working group meeting.