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Malignant Hyperthermia

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https://www.readbyqxmd.com/read/28430550/round-table-on-malignant-hyperthermia-in-physically-active-populations-meeting-proceedings
#1
Yuri Hosokawa, Douglas J Casa, Henry Rosenberg, John F Capacchione, Emmanuel Sagui, Sheila Riazi, Luke N Belval, Patricia A Deuster, John F Jardine, Stavros A Kavouras, Elaine C Lee, Kevin C Miller, Sheila M Muldoon, Francis G O'Connor, Scott R Sailor, Nyamkhishig Sambuughin, Rebecca L Stearns, William M Adams, Robert A Huggins, Lesley W Vandermark
CONTEXT:   Recent case reports on malignant hyperthermia (MH)-like syndrome in physically active populations indicate potential associations among MH, exertional heat stroke (EHS), and exertional rhabdomyolysis (ER). However, an expert consensus for clinicians working with these populations is lacking. OBJECTIVE:   To provide current expert consensus on the (1) definition of MH; (2) history, etiology, and pathophysiology of MH; (3) epidemiology of MH; (4) association of MH with EHS and ER; (5) identification of an MH-like syndrome; (6) recommendations for acute management of an MH-like syndrome; (7) special considerations for physically active populations; and (8) future directions for research...
April 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28422845/response-to-benzodiazepines-and-the-clinical-course-in-malignant-catatonia-associated-with-schizophrenia-a-case-report
#2
Kazutaka Ohi, Aki Kuwata, Takamitsu Shimada, Toshiki Yasuyama, Yusuke Nitta, Takashi Uehara, Yasuhiro Kawasaki
BACKGROUND: Malignant catatonia (MC) is a disorder consisting of catatonic symptoms, hyperthermia, autonomic instability, and altered mental status. Neuroleptic malignant syndrome (NMS) caused by antipsychotics is considered a variant of MC. Benzodiazepine (BZD) medications are safe and effective treatments providing rapid relief from MC. This case study reports a detailed clinical course of a case of MC associated with schizophrenia initially diagnosed as NMS that responded successfully to BZDs but not to dantrolene...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28417560/treatment-of-tumor-in-lymph-nodes-using-near-infrared-laser-light-activated-thermosensitive-liposome-encapsulated-doxorubicin-and-gold-nanorods
#3
Daisuke Matsuki, Oladipo Adewale, Sachiko Horie, Junnosuke Okajima, Atsuki Komiya, Oluwatobi Oluwafemi, Shigenao Maruyama, Shiro Mori, Tetsuya Kodama
Tumor metastasis to lymph nodes is an important contributory factor for cancer-related deaths despite recent developments in cancer therapy. In this study, we demonstrate that tumor in the proper axillary lymph node (PALN) of the mouse can be treated by the application of external laser light to trigger the unloading of doxorubicin (DOX) encapsulated in thermosensitive liposomes (TSLs) administered together with gold nanorods (GNRs). GNRs + DOX-TSLs were injected into a mouse lymph node containing cancer cells (malignant fibrous histiocytoma-like cells) and intranodal DOX release was activated using near-infrared (NIR) laser irradiation...
April 18, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#4
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28403410/assessing-the-pathogenicity-of-ryr1-variants-in-malignant-hyperthermia
#5
A Merritt, P Booms, M-A Shaw, D M Miller, C Daly, J G Bilmen, K M Stowell, P D Allen, D S Steele, P M Hopkins
Background: . Missense variants in the ryanodine receptor 1 gene ( RYR1 ) are associated with malignant hyperthermia but only a minority of these have met the criteria for use in predictive DNA diagnosis. We examined the utility of a simplified method of segregation analysis and a functional assay for determining the pathogenicity of recurrent RYR1 variants associated with malignant hyperthermia. Methods: . We identified previously uncharacterised RYR1 variants found in four or more malignant hyperthermia families and conducted simplified segregation analyses...
April 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28373535/dantrolene-requires-mg-2-to-arrest-malignant-hyperthermia
#6
Rocky H Choi, Xaver Koenig, Bradley S Launikonis
Malignant hyperthermia (MH) is a clinical syndrome of skeletal muscle that presents as a hypermetabolic response to volatile anesthetic gases, where susceptible persons may develop lethally high body temperatures. Genetic predisposition mainly arises from mutations on the skeletal muscle ryanodine receptor (RyR). Dantrolene is administered to alleviate MH symptoms, but its mechanism of action and its influence on the Ca(2+) transients elicited by MH triggers are unknown. Here, we show that Ca(2+) release in the absence of Mg(2+) is unaffected by the presence of dantrolene but that dantrolene becomes increasingly effective as cytoplasmic-free [Mg(2+)] (free [Mg(2+)]cyto) passes mM levels...
April 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28356945/evaluation-of-nano-magnetic-fluid-on-malignant-glioma-cells
#7
Hongsheng Xu, Hailiang Zong, Chong Ma, Xing Ming, Ming Shang, Kai Li, Xiaoguang He, Lei Cao
The temperature variation rule of nano-magnetic fluid in the specific magnetic field and the effect on the treatment of malignant glioma were examined. The temperature variation of nano-magnetic fluid in the specific magnetic field was investigated by heating in vitro, and cell morphology was observed through optical microscopy and electron microscopy. MTT detection also was used to detect the effect of Fe3O4 nanometer magnetic fluid hyperthermia (MFH) on the proliferation of human U251 glioma cell line. The Fe3O4 nano MFH experiment was used to detect the inhibition rate of the tumor volume in nude mice with tumors...
February 2017: Oncology Letters
https://www.readbyqxmd.com/read/28350351/assembly-of-iron-oxide-nanocubes-for-enhanced-cancer-hyperthermia-and-magnetic-resonance-imaging
#8
Minjung Cho, Antonio Cervadoro, Maricela R Ramirez, Cinzia Stigliano, Audrius Brazdeikis, Vicki L Colvin, Pierluigi Civera, Jaehong Key, Paolo Decuzzi
Multiple formulations of iron oxide nanoparticles (IONPs) have been proposed for enhancing contrast in magnetic resonance imaging (MRI) and for increasing efficacy in thermal ablation therapies. However, insufficient accumulation at the disease site and low magnetic performance hamper the clinical application of IONPs. Here, 20 nm iron oxide nanocubes were assembled into larger nanoconstructs externally stabilized by a serum albumin coating. The resulting assemblies of nanocubes (ANCs) had an average diameter of 100 nm and exhibited transverse relaxivity (r₂ = 678...
March 28, 2017: Nanomaterials
https://www.readbyqxmd.com/read/28328583/case-report-of-a-patient-with-idiopathic-hypersomnia-and-a-family-history-of-malignant-hyperthermia-undergoing-general-anesthesia-an-overview-of-the-anesthetic-considerations
#9
Sena Aflaki, Sally Hu, Rami A Kamel, Frances Chung, Mandeep Singh
The pathophysiologic underpinnings of idiopathic hypersomnia and its interactions with anesthetic medications remain poorly understood. There is a scarcity of literature describing this patient population in the surgical setting. This case report outlines the anesthetic considerations and management plan for a 55-year-old female patient with a known history of idiopathic hypersomnia undergoing an elective shoulder arthroscopy in the ambulatory setting. In addition, this case offers a unique set of considerations and conflicts related to the patient having a family history of malignant hyperthermia...
March 17, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28326467/malignant-hyperthermia-susceptibility-in-patients-with-exertional-rhabdomyolysis-a-retrospective-cohort-study-and-updated-systematic-review
#10
Natalia Kraeva, Alexander Sapa, James J Dowling, Sheila Riazi
INTRODUCTION: Two potentially fatal syndromes, malignant hyperthermia (MH), an adverse reaction to general anesthesia, and exertional rhabdomyolysis (ER) share some clinical features, including hyperthermia, muscle rigidity, tachycardia, and elevated serum creatine kinase. Some patients with ER have experienced an MH event and/or have been diagnosed as MH susceptible (MHS). In order to assess the relationship between ER and MH further, we conducted a retrospective cohort study summarizing clinical and genetic information on Canadian patients with ER who were diagnosed as MHS...
March 21, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28325813/aging-effects-of-caenorhabditis-elegans-ryanodine-receptor-variants-corresponding-to-human-myopathic-mutations
#11
Katie Nicoll Baines, Célia Ferreira, Philip M Hopkins, Marie-Anne Shaw, Ian A Hope
Delaying the decline in skeletal muscle function will be critical to better maintenance of an active life-style in old age. The skeletal muscle ryanodine receptor, the major intracellular membrane channel through which calcium ions pass to elicit muscle contraction, is central to calcium ion balance, and is hypothesized to be a significant factor for age-related decline in muscle function. The nematode Caenorhabditis elegans is a key model system for the study of human aging and strains with modified C. elegans ryanodine receptors corresponding to human myopathic variants linked with malignant hyperthermia and related conditions were generated...
March 21, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28306187/anesthesia-induced-rhabdomyolysis-or-malignant-hyperthermia-is-defining-the-crisis-important
#12
REVIEW
Rebecca M Gray
Anesthesia-induced rhabdomyolysis and malignant hyperthermia occur in response to the same agents and present with similar clinical features. Distinguishing between these diagnoses can be challenging in a clinical crisis yet making the distinction is critical as prompt appropriate management may be life-saving, whereas delayed recognition and/or inappropriate management will almost certainly result in death. This focused review examines the differences between these conditions and focuses on the emergency management of anesthesia-induced rhabdomyolysis...
May 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28290972/malignant-hyperthermia-susceptibility-and-fitness-for-duty
#13
Michael A Lee, Erin B McGlinch, Maria C McGlinch, John F Capacchione
INTRODUCTION: Malignant hyperthermia (MH) is an inherited hypermetabolic condition characterized by uncontrolled calcium release from the sarcoplasmic reticulum of skeletal muscle, usually from exposure to inhaled general anesthetics and/or the depolarizing neuromuscular blocking agent succinylcholine. Multiple case reports now reveal that crises may be precipitated by environmental factors such as exercise or high ambient temperatures. Common signs of an MH crisis include life-threatening hyperthermia, metabolic acidosis, muscle rigidity, and tachycardia...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28274986/use-of-simulation-training-to-prepare-pharmacy-residents-for-medical-emergencies
#14
Melissa L Thompson Bastin, Aaron M Cook, Alexander H Flannery
PURPOSE: The use of high-fidelity simulation training for preparing pharmacy residents for various high-stress and high-impact medical emergencies and the impact of this training on pharmacy residents' perception of preparedness are described. SUMMARY: During the 2015-16 residency year at the University of Kentucky Medical Center, simulation training, in addition to lecture-based orientation training, was chosen as a method to reinforce skills and knowledge learned throughout the orientation, before residents began working on-call shifts...
March 15, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28272142/early-development-identification-of-mode-of-action-and-use-of-dantrolene-sodium-the-role-of-keith-ellis-ph-d
#15
Neil A Pollock, Roslyn G Machon, Henry Rosenberg
Dantrolene-a nitrofurantoin derivative-was developed by Snyder et al. in 1967. After initial discovery of its muscle relaxation potential, investigations in a number of species demonstrated dose-dependent reductions in skeletal muscle tone that were long lasting, relatively nontoxic, and free of adverse effects such as respiratory impairment. Ellis et al. then published a number of papers investigating the means by which dantrolene produced these effects. Using a series of classic physiologic models, Ellis investigated potential sites of action for the new drug, eventually narrowing this down to the intracellular calcium-release mechanism...
May 2017: Anesthesiology
https://www.readbyqxmd.com/read/28269792/ryr1-related-myopathies-clinical-histopathologic-and-genetic-heterogeneity-among-17-patients-from-a-portuguese-tertiary-centre
#16
Raquel Samões, Jorge Oliveira, Ricardo Taipa, Teresa Coelho, Márcio Cardoso, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Manuela Santos
BACKGROUND: Pathogenic variants in ryanodine receptor type 1 (RYR1) gene are an important cause of congenital myopathy. The clinical, histopathologic and genetic spectrum is wide. OBJECTIVE: Review a group of the patients diagnosed with ryanodinopathy in a tertiary centre from North Portugal, as an attempt to define some phenotypical patterns that may help guiding future diagnosis. METHODS: Patients were identified from the database of the reference centre for Neuromuscular Disorders in North Portugal...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28259615/resequencing-array-for-gene-variant-detection-in-malignant-hyperthermia-and-butyrylcholinestherase-deficiency
#17
Soledad Levano, Asensio Gonzalez, Martine Singer, Philippe Demougin, Henrik Rüffert, Albert Urwyler, Thierry Girard
Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene. Genotyping for known pathogenic variants in these genes is useful to help identify susceptible individuals, and others may exist but remain unknown, because full-length sequence of these genes is, in general, not investigated. To facilitate this task, we developed a resequencing DNA array, the perioperative patient safety (POPS) array, to be able to screen the entire coding sequences of the RyR1, CACNA1S and BCHE genes...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28246924/jsa-guideline-for-the-management-of-malignant-hyperthermia-crisis-2016
#18
REVIEW
(no author information available yet)
Malignant hyperthermia (MH) can be fatal if the crisis is not appropriately treated. It is an inherited disease usually triggered by the administration of volatile inhalational anesthetics and/or succinylcholine, a muscle relaxant. In a patient with suspected MH, the mechanism of calcium release from storage in the sarcoplasmic reticulum in the skeletal muscle is abnormally accelerated. Unexplained hypercarbia representing >55 mmHg of end-tidal carbon dioxide, tachycardia, and muscle rigidity (including masseter muscle rigidity) are early signs of the initiation of MH, because the metabolism is accelerated...
February 28, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28237713/poly-l-glutamic-acid-drug-delivery-system-for-the-intravesical-therapy-of-bladder-cancer-using-wga-as-targeting-moiety
#19
C Apfelthaler, M Anzengruber, F Gabor, M Wirth
In the management of bladder cancer, surgical resection of the tumour is usually followed by intravesical instillation of immunomodulatives and/or chemotherapeutics. The purpose of this local intravesical therapy is to eliminate residual malignant cells after surgical intervention. The main limitation of a localised adjuvant therapy is the insufficient concentration of the active pharmaceutical ingredient (API) in malignant cells due to the unique structure of the human urothelium making it an exclusively hard to overcome barrier in the human body...
February 22, 2017: European Journal of Pharmaceutics and Biopharmaceutics
https://www.readbyqxmd.com/read/28224104/exertional-rhabdomyolysis-and-heat-stroke-beware-of-volatile-anesthetic-sedation
#20
REVIEW
Karel Heytens, Jan De Bleecker, Walter Verbrugghe, Jonathan Baets, Luc Heytens
In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique...
February 4, 2017: World Journal of Critical Care Medicine
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