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Malignant Hyperthermia

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https://www.readbyqxmd.com/read/29352365/-anesthesia-problem-cards-indispensable-yet-problematic-nationwide-survey-on-experiences-from-clinical-practice
#1
M Schieren, A Böhmer, W Golbeck, J Defosse, F Wappler, H E Marcus
BACKGROUND: Anesthetic procedures may lead to severe and potentially life-threatening complications (e. g. difficult airway, allergic reactions, malignant hyperthermia). Most complications can be avoided in future anesthetic procedures with adequate preparation (e. g. awake intubation, trigger-free anesthesia). In Germany, anesthesia problem cards were introduced two decades ago to identify patients at risk and to increase patient safety by creating a standardized documentation system for anesthesia-related complications...
January 19, 2018: Der Anaesthesist
https://www.readbyqxmd.com/read/29344738/genetic-and-functional-analysis-of-the-ryr1-mutation-p-thr84met-revealed-a-susceptibility-to-malignant-hyperthermia
#2
Takashi Kondo, Toshimichi Yasuda, Keiko Mukaida, Sachiko Otsuki, Rieko Kanzaki, Hirotsugu Miyoshi, Hiroshi Hamada, Ichizo Nishino, Masashi Kawamoto
PURPOSE: The aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility. METHODS: DNA testing of family members was conducted for assessment of pathogenicity of the genetic variant. For functional analysis, Ca2+ measurement using patient-derived myotubes and p.Thr84Met RYR1-transfected human embryonic kidney (HEK)-293 cells was performed to evaluate reactivity to RYR1 activators...
January 17, 2018: Journal of Anesthesia
https://www.readbyqxmd.com/read/29313907/adverse-drug-reactions
#3
REVIEW
K Patton, D C Borshoff
Adverse drug reactions are a cause of significant morbidity and mortality to patients and a source of financial burden to the healthcare system. Of the wide spectrum of adverse drug reactions, the most concerning to the anaesthetist remain anaphylaxis and malignant hyperthermia. Although the incidence of anaphylaxis under anaesthesia is difficult to ascertain, it occurs commonly enough that most anaesthetists will manage at least one case in their career. The wide range of drugs given in the peri-operative period and the variable presentation in the anaesthetised patient can delay diagnosis and treatment, and adversely affect outcome...
January 2018: Anaesthesia
https://www.readbyqxmd.com/read/29247050/voltage-modulates-halothane-triggered-ca2-release-in-malignant-hyperthermia-susceptible-muscle
#4
Alberto Zullo, Martin Textor, Philipp Elischer, Stefan Mall, Andreas Alt, Werner Klingler, Werner Melzer
Malignant hyperthermia (MH) is a fatal hypermetabolic state that may occur during general anesthesia in susceptible individuals. It is often caused by mutations in the ryanodine receptor RyR1 that favor drug-induced release of Ca2+ from the sarcoplasmic reticulum. Here, knowing that membrane depolarization triggers Ca2+ release in normal muscle function, we study the cross-influence of membrane potential and anesthetic drugs on Ca2+ release. We used short single muscle fibers of knock-in mice heterozygous for the RyR1 mutation Y524S combined with microfluorimetry to measure intracellular Ca2+ signals...
December 15, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/29245345/incidence-of-malignant-hyperthermia-in-patients-undergoing-general-anesthesia-protocol-for-a-systematic-review-and-meta-analysis
#5
REVIEW
Junyong In, Eun Jin Ahn, Dong Kyu Lee, Hyun Kang
BACKGROUND: Malignant hyperthermia (MH) continues to be of potential concern for clinicians whenever inhalational anesthetic agents or succinylcholine are used, because MH is a potentially fatal metabolic disorder. METHODS: A systematic and comprehensive search will be performed using MEDLINE, EMBASE, and Google Scholar, for studies published up to November 2017. Peer-reviewed prospective cohort studies, retrospective cohort studies, and cross-sectional studies or reports issued by government organizations reporting the incidence or prevalence of MH will be eligible for inclusion...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29214114/calcium-dysregulation-in-alzheimer-s-disease-a-target-for-new-drug-development
#6
Yong Wang, Yun Shi, Huafeng Wei
Alzheimer's disease (AD) is a devastating neurodegenerative disorder and the most common cause of dementia among aged people whose population is rapidly increasing. AD not only seriously affects the patient's physical health and quality of life, but also adds a heavy burden to the patient's family and society. It is urgent to understand AD pathogenesis and develop the means of prevention and treatment. AD is a chronic devastating neurodegenerative disease without effective treatment. Current approaches for management focus on helping patients relieve or delay the symptoms of cognitive dysfunction...
August 2017: Journal of Alzheimer's Disease and Parkinsonism
https://www.readbyqxmd.com/read/29212769/functional-and-structural-characterization-of-a-novel-malignant-hyperthermia-susceptible-variant-of-dhpr-%C3%AE-1a-subunit-cacnb1
#7
Claudio F Perez, Jose M Eltit, Jose R Lopez, Dóra Bodnár, Angela F Dulhunty, Shouvik Aditya, Marco G Casarotto
Malignant Hyperthermia (MH) susceptibility has been recently linked to a novel variant of β1a subunit of the dihydropyridine receptor (DHPR), a channel essential for Ca2+ regulation in skeletal muscle. Here we evaluate the effect of the mutant variant V156A on the structure/function of DHPR β1a subunit and assess its role on Ca2+ metabolism of cultured myotubes. Using differential scanning fluorimetry we show that mutation V156A causes a significant reduction in thermal stability of the Src homology 3 (SH3)/Guanylate Kinase (GK) core domain of β1a subunit...
December 6, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29200065/cardiac-arrest-in-the-operating-room-part-2-special-situations-in-the-perioperative-period
#8
Matthew D McEvoy, Karl-Christian Thies, Sharon Einav, Kurt Ruetzler, Vivek K Moitra, Mark E Nunnally, Arna Banerjee, Guy Weinberg, Andrea Gabrielli, Gerald A Maccioli, Gregory Dobson, Michael F O'Connor
As noted in part 1 of this series, periprocedural cardiac arrest (PPCA) can differ greatly in etiology and treatment from what is described by the American Heart Association advanced cardiac life support algorithms, which were largely developed for use in out-of-hospital cardiac arrest and in-hospital cardiac arrest outside of the perioperative space. Specifically, there are several life-threatening causes of PPCA of which the management should be within the skill set of all anesthesiologists. However, previous research has demonstrated that continued review and training in the management of these scenarios is greatly needed and is also associated with improved delivery of care and outcomes during PPCA...
November 30, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29193480/rhabdomyolysis-and-fluctuating-asymptomatic-hyperckemia-associated-with-cacna1s-variant
#9
C Anandan, M A Cipriani, R S Laughlin, Z Niu, M Milone
BACKGROUND AND PURPOSE: CACNA1S encodes Cav 1.1, a voltage sensor for muscle excitation-contraction coupling, which activates the ryanodine receptor 1 (RYR1) leading to calcium release from the sarcoplasmic reticulum. CACNA1S mutations cause hypokalemic periodic paralysis, malignant hyperthermia and congenital myopathy. RYR1 mutations result in congenital myopathy, malignant hyperthermia and rhabdomyolysis. METHODS: The aim was to describe a novel phenotype associated with a CACNA1S variant at a site previously linked to hypokalemic periodic paralysis...
November 29, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29191126/intravesical-radiofrequency-induced-hyperthermia-enhances-mitomycin-c-accumulation-in-tumour-tissue
#10
F Johannes P van Valenberg, Antoine G van der Heijden, Rianne J M Lammers, Johannes Falke, Tom J H Arends, Egbert Oosterwijk, J Alfred Witjes
INTRODUCTION: Non-muscle invasive bladder cancer (NMIBC) is a highly recurrent disease with potential progression to muscle invasive disease despite the standard bladder instillations with mitomycin C (MMC) or Bacille Calmette-Guérin immunotherapy. Therefore, alternatives such as radiofrequency-induced chemohyperthermia (RF-CHT) with MMC are being investigated. The mechanism explaining the efficacy of RF-CHT is only partly understood. We examined whether RF-CHT results in higher MMC tissue concentrations as compared to cold MMC instillation...
December 1, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/29178655/ryr1-causing-distal-myopathy
#11
Ruple S Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone
BACKGROUND: Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness. METHODS: We report a case of a patient presenting with childhood onset hand stiffness and adult onset progressive hand weakness and jaw contractures discovered to have two variants in the RYR1 gene...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29169929/compound-heterozygous-ryr1-mutations-in-a-preterm-with-arthrogryposis-multiplex-congenita-and-prenatal-cns-bleeding
#12
Florian Brackmann, Matthias Türk, Nils Gratzki, Oliver Rompel, Heinz Jungbluth, Rolf Schröder, Regina Trollmann
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29151017/neuroleptic-malignant-syndrome-following-bilateral-cemented-total-hip-replacements
#13
Usman Halim, Sanil Ajwani, Martyn Lovell
Neuroleptic malignant syndrome (NMS) is a rare, serious complication caused by neuroleptic medications. It is characterized by rigidity, hyperthermia, tachycardia, leukocytosis, and an elevated creatine kinase (CK). We present a case of a 50-year-old male who underwent bilateral total hip replacements and subsequently developed NMS. This condition is typically triggered by the sudden introduction, omission, or change in dose of a neuroleptic; in contrast with previous case reports of post-surgical NMS, however, no such trigger was identifiable for our patient...
December 2017: Bulletin of the Hospital for Joint Diseases
https://www.readbyqxmd.com/read/29137581/evidence-of-malignant-hyperthermia-in-patients-administered-triggering-agents-before-malignant-hyperthermia-susceptibility-identified-missed-opportunities-prior-to-diagnosis
#14
T Y Chan, T F Bulger, K M Stowell, R L Gillies, E E Langton, N E Street, N A Pollock
Malignant hyperthermia (MH) is a hypermetabolic disorder of skeletal muscle triggered almost exclusively by potent inhalational agents and suxamethonium. Signs of an MH reaction are non-specific and may be confused with the presentation of other problems such as sepsis and overheating of a patient. A high index of suspicion is needed to be aware of an early presentation of MH. Nine patients are presented who showed abnormal signs with an earlier anaesthetic where the possible diagnosis of an MH reaction was missed...
November 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/29101530/sudden-death-due-to-malignant-hyperthermia-with-a-mutation-of-ryr1-autopsy-morphology-and-genetic-analysis
#15
Wenhe Li, Lin Zhang, Yue Liang, Fang Tong, Yiwu Zhou
Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium homeostasis in skeletal muscles in response to triggering agents. Autopsy, morphology, and genetic analysis were performed on a 19-year-old man who died rapidly after exposure to sevoflurane during maxillofacial surgery. Muscle spasm around the operation area and limb rigidity occurred and renal tubules full of myoglobin casts were observed by microscopy. Ultrastructural changes in the skeletal muscles and the myocardium were detected by transmission electron microscopy (TEM)...
December 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29070892/mitochondrial-nuclear-crosstalk-haplotype-and-copy-number-variation-distinct-in-muscle-fiber-type-mitochondrial-respiratory-and-metabolic-enzyme-activities
#16
Xuan Liu, Nares Trakooljul, Frieder Hadlich, Eduard Murani, Klaus Wimmers, Siriluck Ponsuksili
Genes expressed in mitochondria work in concert with those expressed in the nucleus to mediate oxidative phosphorylation (OXPHOS), a process that is relevant for muscle metabolism and meat quality. Mitochondrial genome activity can be efficiently studied and compared in Duroc and Pietrain pigs, which harbor different mitochondrial haplotypes and distinct muscle fiber types, mitochondrial respiratory activities, and fat content. Pietrain pigs homozygous-positive for malignant hyperthermia susceptibility (PiPP) carried only haplotype 8 and showed the lowest absolute mtDNA copy number accompanied by a decrease transcript abundance of mitochondrial-encoded subunits ND1, ND6, and ATP6 and nuclear-encoded subunits NDUFA11 and NDUFB8...
October 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29062464/estrogens-protect-calsequestrin-1-knockout-mice-from-lethal-hyperthermic-episodes-by-reducing-oxidative-stress-in-muscle
#17
Antonio Michelucci, Simona Boncompagni, Marta Canato, Carlo Reggiani, Feliciano Protasi
Oxidative stress has been proposed to play a key role in malignant hyperthermia (MH), a syndrome caused by excessive Ca(2+) release in skeletal muscle. Incidence of mortality in male calsequestrin-1 knockout (CASQ1-null) mice during exposure to halothane and heat (a syndrome closely resembling human MH) is far greater than that in females. To investigate the possible role of sex hormones in this still unexplained gender difference, we treated male and female CASQ1-null mice for 1 month, respectively, with Premarin (conjugated estrogens) and leuprolide (GnRH analog) and discovered that during exposure to halothane and heat Premarin reduced the mortality rate in males (79-27% and 86-20%), while leuprolide increased the incidence of mortality in females (18-73% and 24-82%)...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29062463/antioxidant-treatment-reduces-formation-of-structural-cores-and-improves-muscle-function-in-ryr1-y522s-wt-mice
#18
Antonio Michelucci, Alessandro De Marco, Flavia A Guarnier, Feliciano Protasi, Simona Boncompagni
Central core disease (CCD) is a congenital myopathy linked to mutations in the ryanodine receptor type 1 (RYR1), the sarcoplasmic reticulum Ca(2+) release channel of skeletal muscle. CCD is characterized by formation of amorphous cores within muscle fibers, lacking mitochondrial activity. In skeletal muscle of RYR1(Y522S/WT) knock-in mice, carrying a human mutation in RYR1 linked to malignant hyperthermia (MH) with cores, oxidative stress is elevated and fibers present severe mitochondrial damage and cores...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29061403/neuroleptic-malignant-syndrome-a-neuro-psychiatric-emergency-recognition-prevention-and-management
#19
REVIEW
Raj Velamoor
Neuroleptic Malignant Syndrome (NMS) is a life threatening complication of antipsychotic therapy. It is often assumed to be rare. Observations suggest that rather than overestimating its frequency, we are more likely to underestimate it (Pope et al., 1986). It is a rare but potentially fatal disorder characterized by four principal symptoms. These are mental status changes, muscle rigidity, hyperthermia, and autonomic dysfunction. The diagnosis of NMS often presents a challenge because several medical conditions generate similar symptoms...
October 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/29048924/de-novo-mutation-in-cacna1s-gene-in-a-20-year-old-man-diagnosed-with-metabolic-myopathy
#20
Masoud Edizadeh, Raheleh Vazehan, Fatemeh Javadi, Shima Dehdahsi, Mahsa Fadaee, Mehrshid Faraji Zonooz, Elham Parsimehr, Fatemeh Ahangari, Ayda Abolhassani, Zahra Kalhor, Zohreh Fattahi, Maryam Beheshtian, Ariana Kariminejad, Mohammad Reza Akbari, Hossein Najmabadi, Shahriar Nafissi
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and susceptibility to malignant hyperthermia. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease...
September 2017: Archives of Iranian Medicine
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