Death in the Emergency Department

Lavezzi, Wendy A.; Capacchione, John F.; Muldoon, Sheila M.; Sambuughin, Nyamkhishig; Bina, Saiid; Steele, Deanna; Brandom, Barbara W.

doi:10.1213/ane.0b013e3182768f99

Cited by 33 publications

(3 citation statements)

References 14 publications

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“…Postmortem genetic analysis revealed a novel RYR1 variant that was later found in his father who tested positive by CHCT and was diagnosed histologically with CCD. 24 Similar cases of “awake MH” in children, with and without recognized myopathies, have been described previously. 25,26 …”

Section: Relationship Of Mh With Ehi Er and Statin Myopathiessupporting

confidence: 63%

See 1 more Smart Citation

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

Riazi

Kraeva

Muldoon

et al. 2014

Can J Anesth/J Can Anesth

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The Malignant Hyperthermia Association of the United States (MHAUS) and the Department of Anesthesia at the University of Toronto sponsored a Scientific Conference on November 1–2, 2013 in Toronto, Canada. The multidisciplinary group of experts, including clinicians, geneticists and physiologists involved in research related to malignant hyperthermia (MH), shared new insights into the pathophysiology of type-1 ryanodine receptor gene (RYR1)-linked diseases, as well as the relationship between MH and “awake MH” conditions, such as exertional rhabdomyolysis (ER) and exertional heat illness (EHI). In addition, the molecular genetics of MH, and clinical issues related to the diagnosis and management of RYR1-linked disorders, were presented. The conference also honored Dr. David H. MacLennan for his contributions to our understanding of the genetics, pathogenesis and treatment of MH and other RYR1-related myopathies. This report represents a summary of the proceedings of this conference.

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Section: Relationship Of Mh With Ehi Er and Statin Myopathiessupporting

confidence: 63%

“…24 An otherwise healthy 6-year-old boy developed lower extremity rigidity, trismus, and fever after playing in a splash pool. On arrival in the emergency department, he appeared to be seizing.…”

Section: Relationship Of Mh With Ehi Er and Statin Myopathiesmentioning

confidence: 99%

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

Riazi

Kraeva

Muldoon

et al. 2014

Can J Anesth/J Can Anesth

Self Cite

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“…Recently, STAC3 gene pathogenic variants were also reported in a non‐Native American with NAM, and was considered as a cause of susceptibility to MH 68 . Additionally, it is also notable that MHS individuals may occur life‐threatening hypermetabolic reactions not only under anesthesia but also in a state of febrile illness, physical exertion or stress 69,70 . In this review, although articles related to non‐pharmacologic triggers of MH were not included, this phenomenon still deserves attention.…”

Section: Discussionmentioning

confidence: 99%

Epidemiological and clinical features of malignant hyperthermia: A scoping review

Cong,

Wan,

Wang

et al. 2023

Clinical Genetics

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Malignant hyperthermia (MH) is a potentially fatal inherited pharmacogenetic disorder related to pathogenic variants in the RYR1, CACNA1S, or STAC3 genes. Early recognition of the occurrence of MH and prompt medical treatment are indispensable to ensure a positive outcome. The purpose of this study was to provide valuable information for the early identification of MH by summarizing epidemiological and clinical features of MH. This scoping review followed the methodological framework recommended by Arksey and O'Malley. PubMed, Embase, and Web of science databases were searched for studies that evaluated the epidemical and clinical characteristics of MH. A total of 37 studies were included in this review, of which 26 were related to epidemiology and 24 were associated with clinical characteristics. The morbidity of MH varied from 0.18 per 100 000 to 3.9 per 100 000. The mortality was within the range of 0%–18.2%. Identified risk factors included sex, age, disorders associated with MH, and others. The most frequent initial clinical signs included hyperthermia, sinus tachycardia, and hypercarbia. The occurrence of certain signs, such as hypercapnia, delayed first temperature measurement, and peak temperature were associated with poor outcomes. The epidemiological and clinical features of MH varied considerably and some risk factors and typical clinical signs were identified. The main limitation of this review is that the treatment and management strategies were not assessed sufficiently due to limited information.

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Homology modeling and docking study of diamondback moth ryanodine receptor reveals the mechanisms for channel activation, insecticide binding and resistance

Lin

Hao

Cao

et al. 2019

Pest Management Science

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BACKGROUND Diamide insecticides, including phthalic and anthranilic diamides, target insect ryanodine receptors (RyRs) and cause misregulation of calcium signaling in insect muscles and neurons. Several resistance mutations have been reported to reduce the efficacy of the diamides, but the exact binding sites and mechanism of resistance mutations are not clear. RESULTS The recent breakthrough in structural studies of mammalian RyRs has deepened our understanding of these giant calcium‐release channels, but structural information about insect RyRs is still scarce. The only reported high‐resolution structure is from the N‐terminal domain of diamondback moth (DBM) RyR determined by our group. Here, we generate several homology models of full‐length DBM RyR representing different functional states and dock the diamide insecticides into the structural models using Schrodinger software. These models reveal the specific structural features, activation mechanism, structural difference between functional states, ligand‐binding sites and insecticide‐binding sites of DBM RyR. By comparing the structures of wild‐type and insecticide‐resistant mutants, we propose a model depicting how the mutations affect the insecticide binding. We also identify the key difference between mammalian and insect RyRs that may explain the species‐specific binding properties of diamides. CONCLUSION The binding sites for three activators Ca2+, ATP and caffeine, and regulator ryanodine are conserved in insect and mammalian RyRs, but the binding site for diamide insecticides is species‐specific. The phthalic and anthranilic diamides have distinct binding properties in DBM, which can be interfered by resistance mutations located in the transmembrane region. © 2019 Society of Chemical Industry

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Death in the Emergency Department

Cited by 33 publications

References 14 publications

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference

Epidemiological and clinical features of malignant hyperthermia: A scoping review

Homology modeling and docking study of diamondback moth ryanodine receptor reveals the mechanisms for channel activation, insecticide binding and resistance

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