Publication details
Diagnostika maligní hypertermie v České republice - dosavadní výsledky.
| Title in English | Malignat Hyperthermia Diagnosis in the Czech Republic: Preliminary Results |
|---|---|
| Authors | |
| Year of publication | 2004 |
| Type | Article in Periodical |
| Magazine / Source | Anesteziologie & Intenzivní medicína |
| MU Faculty or unit | |
| Citation | |
| Web | http://www.clsjep.cz |
| Field | Surgery incl. transplantology |
| Keywords | malignant hyperthermia - presymptomatic diagnosis - RYR1 gene mutations |
| Description | In vitro contracture test (IVCT) remains the gold standard in MH diagnosis. Molecular analysis of RYR1 gene (ryanodine receptor gene on chromosone 19) plays an important role, in some cases it can replace IVCT. There are 87 MH risk families registered in the MH Database. The diagnostic process starts in probands.If they are younger than 10 years (body weight less than 30 kg), their parents can be tested. |