Title |
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, January 2014
|
DOI | 10.1186/1750-1172-9-8 |
Pubmed ID | |
Authors |
Werner Klingler, Sebastian Heiderich, Thierry Girard, Elvira Gravino, James JA Heffron, Stephan Johannsen, Karin Jurkat-Rott, Henrik Rüffert, Frank Schuster, Marc Snoeck, Vincenzo Sorrentino, Vincenzo Tegazzin, Frank Lehmann-Horn |
Abstract |
Malignant hyperthermia (MH) is a rare pharmacogenetic disorder which is characterized by life-threatening metabolic crises during general anesthesia. Classical triggering substances are volatile anesthetics and succinylcholine (SCh). The molecular basis of MH is excessive release of Ca2+ in skeletal muscle principally by a mutated ryanodine receptor type 1 (RyR1). To identify factors explaining the variable phenotypic presentation and complex pathomechanism, we analyzed proven MH events in terms of clinical course, muscle contracture, genetic factors and pharmocological triggers. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 67% |
Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 65 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 14 | 22% |
Student > Master | 8 | 12% |
Other | 6 | 9% |
Researcher | 6 | 9% |
Student > Postgraduate | 6 | 9% |
Other | 16 | 25% |
Unknown | 9 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 25 | 38% |
Biochemistry, Genetics and Molecular Biology | 10 | 15% |
Agricultural and Biological Sciences | 8 | 12% |
Nursing and Health Professions | 4 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
Other | 7 | 11% |
Unknown | 9 | 14% |