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Malignant Hyperthermia

Meghan MacKenzie, Richard Hall
PURPOSE: Knowledge of how alterations in pharmacogenomics and pharmacogenetics may affect drug therapy in the intensive care unit (ICU) has received little study. We review the clinically relevant application of pharmacogenetics and pharmacogenomics to drugs and conditions encountered in the ICU. SOURCE: We selected relevant literature to illustrate the important concepts contained within. PRINCIPAL FINDINGS: Two main approaches have been used to identify genetic abnormalities - the candidate gene approach and the genome-wide approach...
October 17, 2016: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
A Fornes-Leal, C Garcia-Pardo, M Frasson, V Pons Beltrán, N Cardona
Several reports over the last few decades have shown that the dielectric properties of healthy and malignant tissues of the same body organ usually show different values. However, no intensive dielectric studies of human colon tissue have been performed, despite colon cancer's being one of the most common types of cancer in the world. In order to provide information regarding this matter, a dielectric characterization of healthy and malignant colon tissues is presented. Measurements are performed on ex vivo surgery samples obtained from 20 patients, using an open-ended coaxial probe in the 0...
October 3, 2016: Physics in Medicine and Biology
Katharina Grau, Paul L Plener, Maximilian Gahr, Christian Denzer, Roland W Freudenmann
Risperidone is a widely used, second-generation antipsychotic approved for treating schizophrenia as well as for treating aggression in children and adolescents with mental retardation. The substance has a well-established risk profile including alterations of body temperature. Apart from hyperthermia with and without full-blown malignant neuroleptic syndrome, low body temperatures (hypothermia) have also been reported anecdotally, usually appearing in the context of comedication. Here, we report a case of hypothermia associated with a low-dose risperidone monotherapy in a child...
September 29, 2016: Zeitschrift Für Kinder- und Jugendpsychiatrie und Psychotherapie
S D Colbert, P A Brennan
Many publications have addressed the medical complications of tattoos, but to our knowledge there are no reports of their use to alert people of potentially dangerous conditions. We present a new way to inform oral and maxillofacial colleagues about patients with a history of malignant hyperthermia (or any other life-threatening medical problem) and discuss the potential advantages and disadvantages of medical alert tattoos.
September 24, 2016: British Journal of Oral & Maxillofacial Surgery
N C Voermans, M Snoeck, H Jungbluth
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide spectrum of inherited myopathies presenting throughout life. Malignant hyperthermia susceptibility (MHS)-related RYR1 mutations have emerged as a common cause of exertional rhabdomyolysis, accounting for up to 30% of rhabdomyolysis episodes in otherwise healthy individuals. Common triggers are exercise and heat and, less frequently, viral infections, alcohol and drugs. Most subjects are normally strong and have no personal or family history of malignant hyperthermia...
October 2016: Revue Neurologique
Nico Hartmann, Steffen Pabel, Jonas Herting, Felix Schatter, André Renner, Jan Gummert, Hanna Schotola, Bernhard C Danner, Lars S Maier, Norbert Frey, Gerd Hasenfuss, Thomas H Fischer, Samuel Sossalla
BACKGROUND: Cardiac type 2 ryanodine receptors (RyR2s) play a pivotal role in cellular electrophysiology and contractility. Increased RyR2-mediated diastolic sarcoplasmic reticulum (SR) Ca(2+) release is linked to heart failure (HF) and arrhythmias. Dantrolene, a drug used for the treatment of malignant hyperthermia, is known to stabilize RyRs in skeletal muscle. OBJECTIVE: The purpose of this study was to investigate the effects of dantrolene on arrhythmogenic triggers and contractile function in human atrial fibrillation (AF) and HF cardiomyocytes (CM)...
September 17, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Kerstin Hoppe, Guido Hack, Frank Lehmann-Horn, Karin Jurkat-Rott, Scott Wearing, Alberto Zullo, Antonella Carsana, Werner Klingler
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism which is characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, and severe metabolic acidosis. The underlying mechanism of MH involves excessive Ca(2+) release in myotubes via the ryanodine receptor type 1 (RyR1). As RyR1 is also expressed in B-lymphocytes, this study investigated whether cellular metabolism of native B-lymphocytes was also altered in MH susceptible (MHS) individuals. A potent activator of RyR1, 4-chloro-m-cresol (4-CmC) was used to challenge native B-lymphocytes in a real-time, metabolic assay based on a pH-sensitive silicon biosensor chip...
2016: Scientific Reports
A Kollmann-Camaiora, E Alsina, A Domínguez, B Del Blanco, M J Yepes, J L Guerrero, A García
Malignant hyperthermia is a hypermetabolic syndrome that appears in susceptible patients after exposure to certain anaesthetic drugs (succinylcholine, inhalation anaesthetics). Its incidence in Spain is 1 in 40,000 adults, with a 10% mortality rate. It is induced by an abnormal regulation of the ryanodine receptors, producing a massive release of calcium from the sarcoplasmic reticulum in the striate muscle. Clinical manifestations include: CO2 increase, tachycardia, haemodynamic instability, metabolic and respiratory acidosis, profuse sweating, hyperpyrexia, CPK increase, myoglobinuria, kidney failure, disseminated intravascular coagulation (DIC), and ending in cardiac arrest...
September 12, 2016: Revista Española de Anestesiología y Reanimación
Qing-Yu Fan, Yong Zhou, Minghua Zhang, Baoan Ma, Tongtao Yang, Hua Long, Zhe Yu, Zhao Li
BACKGROUND: The current application of limb salvage process has some unsolved problems, such as prosthesis loosening, which severely limits the function of the preserved limbs. Innovative approaches are needed to further improve functional outcome. PATIENTS AND METHODS: Instead of en-bloc resection of tumor-bearing bone, it is dissected from the surrounding normal tissues, followed by devitalizing the bone segment and the extra-cortical bulk by microwave induced hyperthermia in situ through the antenna array...
2016: SpringerPlus
Margaret Rozier, Denise Morita, Marta King
BACKGROUND: Anti-N-methyl-D-aspartate receptor encephalitis is an autoimmune disorder characterized by behavioral changes, dyskinesia, and autonomic instability. PATIENT DESCRIPTION: We describe a 14-year-old girl who initially presented with acute behavioral changes and seizures and who over a 2-week period developed high fever, tachycardia, and elevated blood pressures. RESULTS: Because she received multiple medications including anticonvulsants and a neuroleptic, our patient was initially diagnosed with neuroleptic malignant syndrome, a disorder characterized by autonomic dysfunction, hyperthermia, muscle rigidity, and mental status changes usually caused by the use of a neuroleptic agent...
October 2016: Pediatric Neurology
Takashi Murayama, Nagomi Kurebayashi, Haruo Ogawa, Toshiko Yamazawa, Hideto Oyamada, Junji Suzuki, Kazunori Kanemaru, Katsuji Oguchi, Masamitsu Iino, Takashi Sakurai
Type 1 ryanodine receptor (RYR1) is a Ca(2+) release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in some muscle diseases, including malignant hyperthermia (MH) and central core disease (CCD). Over 200 mutations associated with these diseases have been identified, and most mutations accelerate Ca(2+) -induced Ca(2+) release (CICR), resulting in abnormal Ca(2+) homeostasis in skeletal muscle. However, it remains largely unknown how specific mutations cause different phenotypes. In this study, we investigated the CICR activity of 14 mutations at 10 different positions in the central region of RYR1 (10 MH and four MH/CCD mutations) using a heterologous expression system in HEK293 cells...
November 2016: Human Mutation
Daniel J Niven, Kevin B Laupland
Elevation in core body temperature is one of the most frequently detected abnormal signs in patients admitted to adult ICUs, and is associated with increased mortality in select populations of critically ill patients. The definition of an elevated body temperature varies considerably by population and thermometer, and is commonly defined by a temperature of 38.0 °C or greater. Terms such as hyperthermia, pyrexia, and fever are often used interchangeably. However, strictly speaking hyperthermia refers to the elevation in body temperature that occurs without an increase in the hypothalamic set point, such as in response to specific environmental (e...
2016: Critical Care: the Official Journal of the Critical Care Forum
Shouju Wang, Ying Tian, Wei Tian, Jing Sun, Shuang Zhao, Ying Liu, Chunyan Wang, Yuxia Tang, Xingqun Ma, Zhaogang Teng, Guangming Lu
Selectively enhance the therapeutic efficacy to malignancy is one of the most important issues for photothermal therapy (PTT). However, most solid tumors, such as triple negative breast cancer (TNBC), do not have identifiable surface markers to distinguish themselves from normal cells, thus it is challenging to selectively identify and eliminate those malignances by PTT. In this report, we hypothesized that, by targeting CD44 (one TNBC-overexpressed surface molecule) and depleting heat shock protein 72 (HSP72, one malignancy-specific-overexpressed thermotolerance-related chaperone) subsequently, the TNBC could be selectively sensitized to PTT and improve the accuracy of treatment...
September 27, 2016: ACS Nano
Ioannis Kyriazanos, Vasileios Kalles, Anastasios Stefanopoulos, John Spiliotis, Faheez Mohamed
Cytoreductive surgery (CRS) and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) is increasingly used in the treatment of peritoneal malignancies. The administration of HIPEC after complete cytoreduction offers the combination of the pharmacokinetic advantages inherent to the intraperitoneal delivery of cytotoxic chemotherapy, with the direct cytotoxic effects of hyperthermia, and has been reported to offer significantly improved patient outcomes. As a result, this novel method disseminates rapidly, with many surgical teams having developed peritoneal malignancy treatment programs...
September 2016: Surgical Oncology
Rafael De la Garza Ramos, C Rory Goodwin, Nancy Abu-Bonsrah, Amit Jain, Emily K Miller, Nicole Huang, Khaled M Kebaish, Paul D Sponseller, Daniel M Sciubba
OBJECTIVE The aim of this study was to investigate the incidence of and factors associated with complications following idiopathic scoliosis surgery in adolescents. METHODS The Nationwide Inpatient Sample database was used to identify patients 10-18 years of age who had undergone spinal fusion for adolescent idiopathic scoliosis (AIS) from 2002 to 2011. Twenty-three unique in-hospital postoperative complications, including death, were examined. A series of logistic regressions was used to determine if any demographic, comorbid, or surgical parameter was associated with complication development...
August 26, 2016: Journal of Neurosurgery. Pediatrics
Theresa Cummings, Tara Der, Cengiz Karsli
A series of life-threatening nonanesthetic-related MH reactions in a child was the inspiration for a proactive, novel solution allowing for early prehospital, potentially lifesaving intravenous dantrolene administration. Multidisciplinary collaboration is essential and parent education must be comprehensive and ongoing. This case underlines the importance of considering nonanesthetic MH susceptibility in the child who has a history of unspecified myopathy and who presents with fever and total body stiffness...
August 26, 2016: Paediatric Anaesthesia
Angela C Gomez, Timothy W Holford, Naohiro Yamaguchi
Channel activities of skeletal muscle ryanodine receptor (RyR1) are activated by micromolar Ca(2+) and inactivated by higher (~1 mM) Ca(2+) To gain insight into a mechanism underlying Ca(2+)-dependent inactivation of RyR1 and its relationship with skeletal muscle diseases, we constructed nine recombinant RyR1 mutants carrying malignant hyperthermia or centronuclear myopathy associated mutations and determined RyR1 channel activities by [(3)H]ryanodine binding assay. These mutations are localized in or near the RyR1 domains which are responsible for Ca(2+)-dependent inactivation of RyR1...
August 24, 2016: American Journal of Physiology. Cell Physiology
Emily Jane MacKay, Carlos Wilkerson, Natalia Kraeva, Henry Rosenberg, Tara Kennedy
Malignant hyperthermia (MH) remains a diagnostic challenge. This case report describes the anesthetic management of a suspected intraoperative MH episode and the subsequent, genetic sequence analysis of 3 genes associated with MH. The results of the molecular genetic testing revealed heterozygosity for a rare variant, c.12553G>A (p.Ala4185Thr), in the RYR1 gene encoding the ryanodine receptor. Although the RYR1 gene has previously been implicated in the pathogenesis of MH, (1) this particular variant has only been reported in one other case of MH; (2) the role for diagnostic genetic testing in the diagnosis of MH will be examined...
September 2016: Journal of Clinical Anesthesia
G Andocs, M U Rehman, Q-L Zhao, Y Tabuchi, M Kanamori, T Kondo
Loco-regional hyperthermia treatment has long history in oncology. Modulated electro-hyperthermia (mEHT, trade name: oncothermia) is an emerging curative treatment method in this field due to its highly selective actions. The impedance-matched, capacitive-coupled modulated radiofrequency (RF) current is selectively focused in the malignant cell membrane of the cancer cells. Our objective is studying the cell-death process and comparing the cellular effects of conventional water-bath hyperthermia treatment to mEHT...
2016: Cell Death Discovery
J Díaz-Crespo, Y Vázquez-Mambrilla, F García-Herrera
The increased use of surgery as a treatment or as an alternative for improvement means that we have a larger number of patients in the operating theatre, including those who suffer from rare diseases. Poland Syndrome is a rare congenital disease associated with muscle development. These patients may have a broad spectrum of abnormalities, which include thoracic anomalies, which can alter the ventilatory management at the level of the airway; the possible onset of malignant hyperthermia. This leads the anaesthetist to take certain preventive measures...
August 17, 2016: Revista Española de Anestesiología y Reanimación
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