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Malignant Hyperthermia

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https://www.readbyqxmd.com/read/28911291/administration-of-anaesthetic-triggering-agents-to-patients-tested-malignant-hyperthermia-normal-and-their-relatives-in-new-zealand-an-update
#1
D Frei, K M Stowell, E E Langton, L McRedmond, N A Pollock, T F Bulger
Testing for malignant hyperthermia in New Zealand involves two tests-in vitro contracture testing of excised lateral quadriceps muscle and DNA analysis. In vitro contracture testing is regarded as the gold standard in malignant hyperthermia diagnosis but several publications have questioned the reliability of a normal result. Analysis of 479 anaesthetic records in 280 patients or their descendants throughout New Zealand who had tested negative for malignant hyperthermia, demonstrated there was no evidence of malignant hyperthermia episodes in this group who had been administered anaesthetic triggering agents...
September 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28902675/malignant-hyperthermia-in-the-post-genomics-era-new-perspectives-on-an-old-concept
#2
Sheila Riazi, Natalia Kraeva, Philip M Hopkins
This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.
September 12, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28902673/malignant-hyperthermia-susceptibility-and-related-diseases
#3
Ronald S Litman, Sarah M Griggs, James J Dowling, Sheila Riazi
No abstract text is available yet for this article.
September 12, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28900126/a-new-mild-hyperthermia-device-to-treat-vascular-involvement-in-cancer-surgery
#4
Matthew J Ware, Lam P Nguyen, Justin J Law, Martyna Krzykawska-Serda, Kimberly M Taylor, Hop S Tran Cao, Andrew O Anderson, Merlyn Pulikkathara, Jared M Newton, Jason C Ho, Rosa Hwang, Kimal Rajapakshe, Cristian Coarfa, Shixia Huang, Dean Edwards, Steven A Curley, Stuart J Corr
Surgical margin status in cancer surgery represents an important oncologic parameter affecting overall prognosis. The risk of disease recurrence is minimized and survival often prolonged if margin-negative resection can be accomplished during cancer surgery. Unfortunately, negative margins are not always surgically achievable due to tumor invasion into adjacent tissues or involvement of critical vasculature. Herein, we present a novel intra-operative device created to facilitate a uniform and mild heating profile to cause hyperthermic destruction of vessel-encasing tumors while safeguarding the encased vessel...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28842557/functionalized-non-vascular-nitinol-stent-via-electropolymerized-polydopamine-thin-film-coating-loaded-with-bortezomib-adjunct-to-hyperthermia-therapy
#5
Ludwig Erik Aguilar, Batgerel Tumurbaatar, Amin Ghavaminejad, Chan Hee Park, Cheol Sang Kim
Gastrointestinal malignancies have been a tremendous problem in the medical field and cover a wide variety of parts of the system, (i.e. esophagus, duodenum, intestines, and rectum). Usually, these malignancies are treated with palliation with the use of non-vascular nitinol stents. However, stenting is not a perfect solution for these problems. While it can enhance the quality of life of the patient, in time the device will encounter problems such as re-occlusion due to the rapid growth of the tumor. In this study, we propose a functionalization technique using electropolymerization of polydopamine directly onto the nitinol stent struts for the combined application of hyperthermia and chemotherapy...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#6
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
May 30, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28807061/the-incidence-of-hyperthermia-during-cochlear-implant-surgery-in-children
#7
A Schwartz, D Kaplan, V Rosenzweig, M Klein, B F Gruenbaum, S E Gruenbaum, M Boyko, A Zlotnik, E Brotfain
BACKGROUND: Inadvertent hyperthermia during anaesthesia is a rare but life-threatening complication. We have encountered several cases of severe hyperthermia in paediatric patients undergoing anaesthesia for cochlear implantation. METHODS: This study aimed to describe the clinical characteristics of children who developed hyperthermia while undergoing cochlear implantation, and to explore possible mechanisms and predisposing factors. The anaesthetic charts of all patients aged under 18 years who underwent cochlear implantation, or mastoid or ophthalmic surgery, between 1 January 2006 and 31 December 2009, at Soroka Medical Center in Beer Sheva, Israel, were reviewed...
August 15, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28789764/-treatment-of-hyperthermia
#8
Sofie Søndergaard Mørch, Johnny Dohn Holmgren Andersen, Morten Heiberg Bestle
Hyperthermia is an uncontrolled elevation of body temperature exceeding the body's ability to dissipate heat. Hyperthermia can result in dangerously high core temperatures and can rapidly become fatal. Common causes include heat stroke, malignant hyperthermia, serotonin syndrome, neuroleptic syndrome, a few endocrine emergencies as well as numerous intoxications. Rapid diagnosis and prompt cooling are pivotal, since the condition triggers a cascade of metabolic events which may progress to irreversible injury or death...
July 24, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#9
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28767476/atypical-neuroleptic-malignant-syndrome-diagnosis-and-proposal-for-an-expanded-treatment-algorithm-a-case-report
#10
Nicole M Schreiner, Samuel Windham, Andrew Barker
Neuroleptic malignant syndrome (NMS) in the absence of an elevated creatine kinase is atypical and more difficult to diagnose. We present a patient with NMS significant risk factors who developed atypical NMS 6 days after a liver transplant. Symptoms of hyperthermia, altered mental status, dyskinesia, and autonomic instability (hypertension and tachycardia) coincided with promethazine administration, with rapid progression to fulminant NMS with lead pipe rigidity after a single injection of intramuscular ziprasidone...
August 1, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28755668/simulation-based-training-malignant-hyperthermia
#11
Shelly Schaad
No abstract text is available yet for this article.
August 2017: AORN Journal
https://www.readbyqxmd.com/read/28752347/-prolonged-neuroleptic-malignant-syndrome-after-haloperidol-injection
#12
N Wystub, S Heymel, M Fritzenwanger, P C Schulze, R Pfeifer
Neuroleptic malignant syndrome (NMS) is a rare disorder caused by drug-induced dopamine-receptor-blockage or low dopamine concentration in the brain. It is a severe reaction to neuroleptic drugs in antipsychotic therapy. Symptoms in NMS typically consist of fever, muscle rigidity and cognitive changes; laboratory findings include elevated infectious disease markers and creatine kinase as well as signs of rhabdomyolysis. To differentiate NMS from other malignant hyperthermia syndromes identifying the offending drug and clinical history are essential...
July 27, 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28750945/high-prevalence-of-rare-ryanodine-receptor-type-1-variants-in-patients-suffering-from-aneurysmatic-subarachnoid-hemorrhage-a-pilot-study
#13
Jan Coburger, Thomas Kapapa, Cristian Rainer Wirtz, Karin Jurkat-Rott, Werner Klingler
Subarachnoid hemorrhage (SAH) remains a challenging neurosurgical disease. The ryanodine receptor type 1 Ca2+ channel (RyR1) plays a crucial role in vasoconstriction and hemostasis. Mutations of the encoding gene, RYR1, are known to cause susceptibility to malignant hyperthermia (MH). Recently, a RYR1 mutation was found to be associated with abnormal bleeding times. Therefore, an assessment of the RYR1 gene might be of high relevance in patients with aneurysmatic SAH. In the presented pilot study, we screened 10 patients suffering from SAH for RYR1 variants and, for the first time in SAH, performed an assessment of pathogenicity of these variants using protein prediction software...
July 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#14
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
October 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28706901/intraoperative-intracavitary-hyperthermic-chemotherapy-for-malignant-pleural-mesothelioma
#15
REVIEW
Kazunori Okabe
Malignant pleural mesothelioma (MPM) is a dreadful disease with a poor prognosis. Multimodality therapy including surgical macroscopic complete resection is performed to treat operable MPM. Intraoperative intracavitary hyperthermic chemotherapy for MPM was reviewed. Appropriate papers published between 2006 and present were extracted by the PubMed advanced search by MPM (Title/Abstract), chemotherapy (Title/Abstract), and hyperthermia (All fields). Among the selected papers, those written in English, and treated more than ten MPM patients were reviewed...
June 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28697029/malignant-hyperthermia-in-a-morbidly-obese-patient-depletes-community-dantrolene-resources-a-case-report
#16
Fabio Magistris, Jonathan Gamble
During resection of a duodenal carcinoid tumor, a 28-year-old morbidly obese woman developed suspected malignant hyperthermia. This hypermetabolic state posed a diagnostic challenge given the similar intraoperative presentation of carcinoid crisis and malignant hyperthermia. The patient's weight posed therapeutic challenges as massive doses and prolonged administration of dantrolene were required that quickly depleted the available supply. Current dantrolene dosing recommendations are based on actual body weight despite a paucity of literature in obese patients...
July 10, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28687594/reduced-threshold-for-store-overload-induced-ca-2-release-is-a-common-defect-of-ryr1-mutations-associated-with-malignant-hyperthermia-and-central-core-disease
#17
COMPARATIVE STUDY
Wenqian Chen, Andrea Koop, Yingjie Liu, Wenting Guo, Jinhong Wei, Ruiwu Wang, David H MacLennan, Robert T Dirksen, Sui Rong Wayne Chen
Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most disease-associated RyR1 and RyR2 mutations are located in the N-terminal, central, and C-terminal regions of the corresponding ryanodine receptor (RyR) isoform. An increasing body of evidence demonstrates that CPVT-associated RyR2 mutations enhance the propensity for spontaneous Ca(2+) release during store Ca(2+) overload, a process known as store overload-induced Ca(2+) release (SOICR)...
August 7, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28682948/skeletal-muscle-metabolic-dysfunction-in-patients-with-malignant-hyperthermia-susceptibility
#18
Sara J Thompson, Sheila Riazi, Natalia Kraeva, Michael D Noseworthy, Tammy E Rayner, Jane E Schneiderman, Barbara Cifra, Greg D Wells
BACKGROUND: Malignant hyperthermia (MH), a pharmacogenetic disorder of skeletal muscle, presents with a potentially lethal hypermetabolic reaction to certain anesthetics. However, some MH-susceptible patients experience muscle weakness, fatigue, and exercise intolerance in the absence of anesthetic triggers. The objective of this exploratory study was to elucidate the pathophysiology of exercise intolerance in patients tested positive for MH with the caffeine-halothane contracture test...
August 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28665830/undiagnosed-pheochromocytoma-simulating-malignant-hyperthermia
#19
Nisha S Ramani, Robert Stoppacher, Ajaykumar C Morani, Charles Catanese
INTRODUCTION: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumors. They are surgically curable but can be lethal if remain undiagnosed. We report a patient earlier diagnosed with malignant hyperthermia but later found to have pheochromocytoma on autopsy. CASE REPORT: After a preprocedural pain block for elective right shoulder arthroscopy, a 53-year-old hypertensive white man developed chest pain. In the operating room, he had increased blood pressure...
September 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28664843/management-of-soft-tissue-tumors-of-the-upper-extremity-a-review
#20
Kevin T Jubbal, Gehaan D'Souza, Reid A Abrams, Anna A Kulidjian
INTRODUCTION: Management of malignant tumors of the hand and wrist is challenging and is generally approached by limb salvage or amputation. With advances in care, amputation has been superseded by limb salvage as the treatment of choice. METHODS: A narrative literature review was performed to identify articles on the topic of management of soft tissue tumors of the upper extremity, including surgical management, adjuvant radiation therapy, and chemotherapy. RESULTS: A total of 29 articles were selected...
2017: SICOT-J
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