Malignant Hyperthermia
What's New
Last Posted: Oct 19, 2023
- Evaluation of malignant hyperthermia features in patients with pathogenic or likely pathogenic RYR1 variants disclosedthrough a population genomic screening program.
Kristen D Yu et al. Anesthesiology 2023 - Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review.
Luciano Frassanito et al. J Clin Med 2023 12(12) - Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Thomas May et al. Family practice 2023 - Impact of a digital manual for guidance on malignant hyperthermia: patient education.
Rodrigues Gislene et al. Orphanet journal of rare diseases 2022 17(1) 265 - Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing.
van den Bersselaar Luuk R et al. Anesthesiology 2022 - Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield Eden V et al. BMC medicine 2021 19(1) 199 - Secondary findings in 622 Turkish clinical exome sequencing data.
Arslan Ates Esra et al. Journal of human genetics 2021 - Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe Kerstin et al. Scientific reports 2021 Feb 11(1) 3445 - Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.
Hopkins P M et al. Anaesthesia 2021 Jan - Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety.
Baye Jordan F et al. Pharmacogenomics 2020 Oct
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: