Article
Anesthesiology
P. M. Hopkins, T. Girard, S. Dalay, B. Jenkins, A. Thacker, M. Patteril, E. McGrady
Summary: Malignant hyperthermia is a life-threatening hyperthermic reaction that occurs during general anesthesia, with a genetic basis and the need for prompt treatment to avoid fatal consequences.
Article
Biochemistry & Molecular Biology
Yukari Endo, Linda Groom, Sabrina M. Wang, Emanuela Pannia, Nigel W. Griffiths, Jenica L. M. Van Gennip, Brian Ciruna, Jocelyn Laporte, Robert T. Dirksen, James J. Dowling
Summary: CACNA1S-related myopathy is a congenital muscle disease with no effective therapies available. The lack of suitable animal models has hindered its study. Researchers have successfully generated zebrafish models that mimic key aspects of the severe and mild forms of the disease, providing a basis for future mechanistic studies and therapy development.
HUMAN MOLECULAR GENETICS
(2023)
Article
Medicine, General & Internal
Agnieszka Cieniewicz, Janusz Trzebicki
Summary: Malignant hyperthermia (MH) is a life-threatening syndrome caused by uncontrolled skeletal muscle hypermetabolism in response to anesthesia. The prevalence of MH in Poland is estimated to be 1:350,000, lower than in other countries. Access to the life-saving drug, dantrolene, is limited in Poland, with only 20% of anesthesia departments having it in stock and 16% able to administer it within 5 minutes of suspecting a MH reaction. The study highlights the need for improved accessibility and management of MH in Poland.
Article
Cardiac & Cardiovascular Systems
Zhipeng Sun, Luqi Wang, Lu Han, Yue Wang, Yuan Zhou, Qiang Li, Yongquan Wu, Shaletanati Talabieke, Yunlong Hou, Lulin Wu, Ronghua Liu, Zhiping Fu, Hongjie You, Bai-Yan Li, Yuanyuan Zheng, Dali Luo
Summary: Casq1 is expressed in the heart, where it regulates sarcoplasmic reticulum Ca2+ release and heart rate. Casq1 deficiency independently causes MH/EHS-like ventricular arrhythmia by trigger-induced Casq1 oligomerization and a relief of its inhibitory effect on ryanodine receptor-2-mediated Ca2+ release, thus revealing a new inherited arrhythmia and a novel mechanism for MH/EHS arrhythmogenesis.
Article
Biochemistry & Molecular Biology
Leon Chang, Lois Gardner, Carol House, Catherine Daly, Adrian Allsopp, Daniel Roiz de Sa, Marie-Anne Shaw, Philip M. Hopkins
Summary: This study investigated gene expression in male subjects with a history of exertional heat illness or susceptibility to malignant hyperthermia and found a common underlying pathophysiology between these two conditions. The study also showed that heat tolerance tests can elevate expression of inflammatory response genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Health Care Sciences & Services
Lingcan Tan, Yi Teng, Hong Yu, Chunyuan Liu, Kun Xiao, Jin Yin, Yunxia Zuo, Tao Zhu, Xiaoqian Deng
Summary: This study retrospectively analyzed the characteristics of suspected malignant hyperthermia (MH) in China from 2015 to 2020. Abnormal hyperthermia and hypercarbia were the most common early signs of MH. Patients receiving dantrolene treatment had a significantly higher survival rate compared to those not receiving treatment. Clinical diagnosis remains the main diagnostic method for suspected MH in China, and the WeChat group model has played a significant but limited role in the quick diagnosis and treatment of MH.
JOURNAL OF MULTIDISCIPLINARY HEALTHCARE
(2022)
Article
Chemistry, Multidisciplinary
Liang Zhang, Fuding Guo, Saiting Xu, Qiang Deng, Mengjie Xie, Jianwei Sun, Ryan T. K. Kwok, Jacky W. Y. Lam, Hexiang Deng, Hong Jiang, Lilei Yu, Ben Zhong Tang
Summary: The study reports the engineering of aggregation-induced emission luminogens (AIEgen)-based covalent organic frameworks (COFs) as hyperthermia agents for inhibiting malignant ventricular arrhythmias. These AIE COFs exhibit dual functionality, as they directly modulate the function and neural activity of stellate ganglion through local hyperthermia therapy, and also induce browning of white fat and improve the neuroinflammation peri-stellate ganglion microenvironment, which helps in preventing the occurrence of arrhythmias.
ADVANCED MATERIALS
(2023)
Article
Genetics & Heredity
Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard, Stephen G. Gonsalves, Philip M. Hopkins, Sheila Riazi, Louis A. Saddic, Nyamkhishig Sambuughin, Richa Saxena, Kathryn Stowell, James Weber, Henry Rosenberg, Leslie G. Biesecker
Summary: The study aimed to adapt ACMG/AMP criteria for classification of RYR1 variants related to MH, which resulted in successfully identifying 29 pathogenic variants, 13 likely pathogenic variants, and 2 variants of uncertain significance through testing on 84 variants and fine-tuning of the criteria. The application of quantitative evidence calibration and Bayesian framework in this study is transferrable to other variant curation expert panels for genomic testing result classification.
GENETICS IN MEDICINE
(2021)
Article
Anesthesiology
Henrik Rueffert, Boerge Bastian, Diana Bendixen, Thierry Girard, Sebastian Heiderich, Anna Hellblom, Philip M. Hopkins, Stephan Johannsen, Marc M. Snoeck, Albert Urwyler, Klaus P. E. Glahn
Summary: Malignant hyperthermia is a potentially fatal condition that requires genetic predisposed individuals to undergo perioperative management, including preparation of anaesthesia workstations. Key recommendations include ensuring anaesthesia free of triggering agents, avoiding prophylactic use of dantrolene, and anaesthetising patients in an outpatient setting.
BRITISH JOURNAL OF ANAESTHESIA
(2021)
Article
Anesthesiology
Barbara Bojko, Tijana Vasiljevic, Ezel Boyaci, Anna Roszkowska, Natalia Kraeva, Carlos A. Ibarra Moreno, Annabel Koivu, Marcin Wasowicz, Amy Hanna, Susan Hamilton, Sheila Riazi, Janusz Pawliszyn
Summary: The study found significant fold-change differences in metabolites from various pathways between MH-susceptible and control groups, indicating a shift from carbohydrate to lipid utilization for energy production in MH-susceptible individuals. This shift may lead to inefficiency of beta-oxidation, increased muscle protein turnover, oxidative stress, and/or elevated lysophosphatidylcholine levels.
CANADIAN JOURNAL OF ANESTHESIA-JOURNAL CANADIEN D ANESTHESIE
(2021)
Article
Dentistry, Oral Surgery & Medicine
P. Kantaputra, A. Butali, S. Eliason, C. Chalkley, S. Nakornchai, C. Bongkochwilawan, K. Kawasaki, A. Kumchiang, C. Ngamphiw, S. Tongsima, J. R. Ketudat Cairns, B. Olsen, W. Intachai, A. Ohazama, A. S. Tucker, B. A. Amendt
Summary: This study aimed to identify the molecular etiology of dental anomalies in eight Thai patients and explore the effects of mutation on cellular functions. Clinical and radiographic examinations revealed multiple supernumerary cusps, single-cusped premolars, and reduced root number in the patients. Mutation analysis identified a heterozygous mutation in CACNA1S, which is involved in calcium signaling. Mutant protein modeling and cell culture experiments showed abnormalities in calcium flow and cell migration, suggesting a role for calcium signaling in tooth development.
Review
Materials Science, Ceramics
Xiaogang Yu, Shuaiwen Ding, Renpeng Yang, Chengwei Wu, Wei Zhang
Summary: Magnetic induction hyperthermia is a new method for malignant tumor therapy that focuses on improving heating efficiency through increasing saturation magnetization and initial susceptibility of magnetic nanoparticles, adjusting particle size and magnetocrystalline anisotropy constant, and selecting an appropriate Curie temperature for self-regulation.
CERAMICS INTERNATIONAL
(2021)
Article
Thermodynamics
Yundong Tang, Rodolfo C. C. Flesch, Tao Jin, Minhua He
Summary: Magnetic hyperthermia has the potential to induce apoptosis in malignant cells while ensuring the safety of normal cells by exposing bio-tissue containing magnetic nanoparticles to a specific treatment temperature range under a magnetic field. This paper develops a theoretical and mathematical model to evaluate apoptosis behavior in a proposed geometric model for therapy, considering the impact of magnetic and concentration fields on heat production of MNPs and subsequent apoptosis in tumor regions. The study suggests that the proposed approach can effectively predict the apoptosis situation of malignant cells by coupling different physical fields during therapy, and may have implications for the planning of nanofluid hyperthermia.
INTERNATIONAL JOURNAL OF HEAT AND MASS TRANSFER
(2021)
Article
Medicine, General & Internal
Seon Woo Yoo, Seon Ju Baek, Dong-Chan Kim, A. Ram Doo
Summary: This case report highlights a rare occurrence of MH in an undiagnosed DM1 patient during anesthesia induction. Genetic testing played a crucial role in diagnosis and treatment, suggesting a potential susceptibility to MH in DM1 patients.
Article
Anesthesiology
Xiaodan Gong
Summary: In situations where dantrolene is not readily available, early warning, diagnosis, and prompt effective therapies are crucial for the survival of malignant hyperthermia patients. Death cases had higher levels of CO2, temperatures, potassium, and were more likely to have coagulation disorders compared to survived cases. Treatment with furosemide, mannitol, and blood purification showed advantages in outcome for patients.
BMC ANESTHESIOLOGY
(2021)