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Malignant Hyperthermia

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https://www.readbyqxmd.com/read/27918309/intraoperative-presentation-of-malignant-hyperthermia-confirmed-by-ryr1-gene-mutation-c-7522c-t-p-r2508c-leads-to-diagnosis-of-king-denborough-syndrome-in-a-child-with-hypotonia-and-dysmorphic-features
#1
Mark R Joseph, Mary C Theroux, James J Mooney, Shawn Falitz, Barbara W Brandom, Debra L Byler
We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been documented in a patient with KDS. Atypical presentation of MH is more likely in patients with RYR1-related myopathy...
December 1, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27917269/ecstasy-mdma-and-its-effects-on-kidneys-and-their-treatment-a-review
#2
REVIEW
Feyza Bora, Fatih Yılmaz, Taner Bora
Ecstasy (MDMA; 3,4-methylenedioxymethylamphetamine) is an illicit drug that has been increasingly abused by young people. Its effects include euphoria, enhanced sociability and heightened mental awareness. These come about via the increase of serotonin in both the central nervous system and the sympathetic nervous system. Despite the drug's prevalent abuse, serious or adverse effects are rare. Due to personal pharmacokinetics, effects from the same dosage vary according to the individual. Fatal instances may include acute hyponatremia, hyperthermia (>42 °C), disseminated intravascular coagulation (DIC) resulting from hyperthermia affecting the kidneys, and non-traumatic rhabdomyolysis...
November 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/27909289/hyperthermia-enhances-17-dmag-efficacy-in-hepatocellular-carcinoma-cells-with-aggravated-dna-damage-and-impaired-g2-m-transition
#3
Zhizhou Huang, Xueqiong Zhou, Yangfan He, Xiangyu Ke, Ying Wen, Fei Zou, Xuemei Chen
Due to the lack of effective treatment, hepatocellular carcinoma (HCC) is one of the malignancies with low survival rates worldwide. Combination of hyperthermia and chemotherapy has shown promising results in several abdominal tumours, but high expression of HSP90 in tumours attenuated the efficacy of hyperthermia. Thus a combination of hyperthermia and inhibition of HSP90 might be a feasible therapeutic strategy for HCC. One hepatic cell line (L02) and two HCC cell lines (Huh7 and HepG2) were heated at 42 °C for 0, 0...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27893374/differential-evolution-optimization-of-the-sar-distribution-for-head-and-neck-hyperthermia
#4
Grazia Cappiello, Brian Mc Ginley, Muhammad Adnan Elahi, Tomas Drizdal, Margarethus M Paulides, Martin Glavin, Martin O'Halloran, Edward Jones
Hyperthermia is an emerging cancer treatment modality which involves applying heat to the malignant tumor. The heating can be delivered using electromagnetic (EM) energy, mostly in the radiofrequency (RF) or microwave range. Accurate patient-specific hyperthermia treatment planning (HTP) is essential for effective and safe treatments, in particular for deep and loco-regional hyperthermia. An important aspect of HTP is the ability to focus microwave energy into the tumor and reduce the occurrence of hot spots in healthy tissue...
November 14, 2016: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/27882090/clinical-treatment-of-malignant-hyperthermia-in-three-cases
#5
Tao Pan, Wenli Ji, Mengqi Nie, Yang Li
Malignant hyperthermia (MH) is a rare life threatening inherited disorder that is triggered by drugs used for general anesthesia in susceptible persons. The symptoms include rapid increase of body temperature and severe muscle contractions. The present study includes 3 cases of MH and highlights the timely identification of symptoms for rescuing the patient. In case I, a 7-year-old male child underwent surgery with ketamine at a dose of 250 mg. After 4 h of operation, the child went through convulsions, high fever and succumbed within a few hours...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27857962/functional-analysis-of-ryr1-variants-linked-to-malignant-hyperthermia
#6
Jeremy Stephens, Anja H Schiemann, Cornelia Roesl, Dorota Miller, Sean Massey, Neil Pollock, Terasa Bulger, Kathryn Stowell
Malignant hyperthermia manifests as a rapid and sustained rise in temperature in response to pharmacological triggering agents, e.g. inhalational anesthetics and the muscle relaxant suxamethonium. Other clinical signs include an increase in end-tidal CO2, increased O2 consumption, as well as tachycardia, and if untreated a malignant hyperthermia episode can result in death. The metabolic changes are caused by dysregulation of skeletal muscle Ca(2+) homeostasis, resulting from a defective ryanodine receptor Ca(2+) channel, which resides in the sarcoplasmic reticulum and controls the flux of Ca(2+) ions from intracellular stores to the cytoplasm...
April 2016: Temperature: Multidisciplinary Biomedical Journal
https://www.readbyqxmd.com/read/27855725/review-of-ryr1-pathway-and-associated-pathomechanisms
#7
REVIEW
Jessica W Witherspoon, Katherine G Meilleur
Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RYR1-RM) and/or malignant hyperthermia susceptibility (MHS). Individuals with RYR1-RM and/or MHS exhibit varying symptoms and severity. The symptoms impair quality of life and put patients at risk for early mortality, yet the cause of varying severity is not well understood...
November 17, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27854207/long-term-oral-dantrolene-improved-muscular-symptoms-in-a-malignant-hyperthermia-susceptible-individual
#8
Brian N Butala, Audry Kang, Jasmeen Guron, Barbara W Brandom
This case report describes a female with p.Lys4876Arg amino acid change in the ryanodine receptor type 1 (RYR1) and a sibling who died of malignant hyperthermia (MH) during anesthesia. After her diagnosis as MH susceptible, this patient was administered low-dose dantrolene daily for greater than 25 years for treatment of chronic muscle spasm and pain in her lower extremities and back limiting sleep. Her creatine phosphokinase (CPK) was as high as 2390 IU/L during labor and 900 IU at rest. With 25 mg dantrolene daily, muscle cramps were eliminated, and sleep was improved...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27842951/suspected-malignant-hyperthermia-during-biventricular-assist-device-implantation-in-a-patient-with-left-ventricular-noncompaction-cardiomyopathy
#9
Karsten Schmidt, Anke Missler, Christoph Lichtenstern, Thorsten Brenner, Bastian Schmack, Arjang Ruhparwar, Markus A Weigand, Stefan Hofer
No abstract text is available yet for this article.
August 21, 2016: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/27832566/sequencing-of-genes-involved-in-the-movement-of-calcium-across-human-skeletal-muscle-sarcoplasmic-reticulum-continuing-the-search-for-genes-associated-with-malignant-hyperthermia
#10
A R Bjorksten, R L Gillies, B M Hockey, D Du Sart
The genetic basis of malignant hyperthermia (MH) is not fully characterised and likely involves more than just the currently classified mutations in the gene encoding the skeletal muscle ryanodine receptor (<i>RYR1</i>) and the gene encoding the α1 subunit of the dihydropyridine receptor (<i>CACNA1S</i>). In this paper we sequence other genes involved in calcium trafficking within skeletal muscle in patients with positive in vitro contracture tests, searching for alternative genes associated with MH...
November 2016: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/27812757/counter-flow-suggests-transport-of-dantrolene-and-5-oh-dantrolene-by-the-organic-anion-transporters-2-oat2-and-3-oat3
#11
Birgitta C Burckhardt, Maja Henjakovic, Yohannes Hagos, Gerhard Burckhardt
Dantrolene is the only available drug for the treatment of malignant hyperthermia, a life-threatening inborn sensitivity of the ryanodine receptor (RyR1) in skeletal muscles to volatile anesthetics. Dantrolene is metabolized in the liver to 5-OH dantrolene. Both compounds are zwitterions or net negatively charged. Here, we investigated interactions of dantrolene and 5-OH dantrolene with solute carrier (SLC) family members occurring in skeletal muscle cells, hepatocytes, and renal proximal tubule cells. SLC22A8 (organic anion transporter 3, OAT3) was very sensitive to both compounds exhibiting IC50 values of 0...
November 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27811495/use-of-methohexital-and-dexmedetomidine-for-maintenance-of-anesthesia-in-a-patient-with-mitochondrial-myopathy
#12
Elliott L Woodward, Zhiling Xiong
Provision of anesthesia for patients with mitochondrial disorders is associated with a unique set of challenges. These disorders are rare, which complicates efforts to develop high quality, evidence-based guidelines to inform the perioperative management of those who suffer from them. Accordingly, case reports remain an important source of information regarding their care. Here we present the case of a 27-year-old female patient with mitochondrial myopathy and a history suggestive of malignant hyperthermia susceptibility who received general anesthesia for 2 consecutive surgeries...
November 2, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27782702/improving-hyperthermia-treatment-planning-for-the-pelvis-by-accurate-fluid-modeling
#13
G Schooneveldt, H P Kok, E Balidemaj, E D Geijsen, F van Ommen, J Sijbrands, A Bakker, J J M C H de la Rosette, M C C M Hulshof, T M de Reijke, J Crezee
PURPOSE: Hyperthermia is an established (neo)adjuvant treatment modality for a number of pelvic malignancies. Optimal treatment of these tumors requires robust treatment planning, but up until now, the urinary bladder was not modeled accurately, making current simulations less reliable. The authors improved the dielectric and thermophysical model of the urinary bladder in their treatment planning system, and showed the improvements using phantom experiments. METHODS: The authors suspended a porcine bladder in muscle tissue equivalent gel and filled it with 120 ml 0...
October 2016: Medical Physics
https://www.readbyqxmd.com/read/27770883/multifunctional-magnetic-nanostructured-hardystonite-scaffold-for-hyperthermia-drug-delivery-and-tissue-engineering-applications
#14
Ali Farzin, Mohammadhossein Fathi, Rahmatollah Emadi
Hyperthermia and local drug delivery have been proposed as potential therapeutic approaches for killing cancer cells. The development of bioactive materials such as Hardystonite (HT) with magnetic and drug delivery properties can potentially meet this target. This new class of magnetic bioceramic can replace the widely used magnetic iron oxide nanoparticles, whose long-term biocompatibility is not clear. Magnetic HT can be potentially employed to develop new ceramic scaffolds for bone surgery and anticancer therapies...
January 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/27752976/pharmacogenomics-and-pharmacogenetics-for-the-intensive-care-unit-a-narrative-review
#15
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
https://www.readbyqxmd.com/read/27694718/dielectric-characterization-of-healthy-and-malignant-colon-tissues-in-the-0-5-18-ghz-frequency-band
#16
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
https://www.readbyqxmd.com/read/27685194/mild-hypothermia-in-a-child-with-low-dose-risperidone
#17
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
https://www.readbyqxmd.com/read/27682719/tattoos-could-they-be-used-to-advantage-as-a-medical-alert-in-oral-and-maxillofacial-surgery
#18
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
https://www.readbyqxmd.com/read/27663056/ryr1-related-rhabdomyolysis-a-common-but-probably-underdiagnosed-manifestation-of-skeletal-muscle-ryanodine-receptor-dysfunction
#19
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
https://www.readbyqxmd.com/read/27650424/antiarrhythmic-effects-of-dantrolene-in-human-diseased-cardiomyocytes
#20
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
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