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Malignant Hyperthermia

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https://www.readbyqxmd.com/read/29151017/neuroleptic-malignant-syndrome-following-bilateral-cemented-total-hip-replacements
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/29043985/from-the-observation-of-atypical-cells-on-blood-smear-to-the-diagnosis-of-mast-cell-leukemia-a-case-report-in-a-79-year-old-woman-consulting-for-anemia
#9
Julien Decker, Sabine Meyer, Véronique Latger-Cannard, Sorin Visanica, Elena Loppinet, Jean-François Lesesve, Blandine Bénet
Mast cell leukemia is an extremely rare disease, which belongs to the systemic mastocytosis group (WHO 2016). We are reporting the case of a 79-year-old woman, without any hematological particular history consulting for hyperthermia, repeated malaise and subacute anemia. Her clinical examination was normal. Unusual cells were seen on blood and bone marrow smears. They represent more than 10% of blood nucleated cells end more than 20% of the bone marrow nucleated cells. Bone marrow immunophenotyping was performed to characterize these cells...
October 18, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29039593/hyperthermia-with-different-temperatures-inhibits-proliferation-and-promotes-apoptosis-through-the-egfr-stat3-pathway-in-c6-rat-glioma-cells
#10
Yao-Dong Chen, Yu Zhang, Tian-Xiu Dong, Yu-Tong Xu, Wei Zhang, Ting-Ting An, Peng-Fei Liu, Xiu-Hua Yang
Malignant gliomas are a group of aggressive neoplasms among human cancers. The curative effects of current treatments are finite for improving the prognosis of patients. Hyperthermia (HT) is an effective treatment for cancers; however, the effects of HT with different temperatures in treatment of MG and relevant mechanisms remain unclear. MTT assay and Annexin V‑fluorescein isothiocyanate/propidium iodide staining were used for investigating the proliferation and apoptosis of C6 cells, respectively. Western blotting was applied to detect the expression of proteins...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29028638/malignant-hyperthermia-versus-thyroid-storm-in-a-patient-with-symptomatic-graves-disease-a-case-report
#11
Sara M Strowd, Michael B Majewski, Jennifer Asteris
Malignant hyperthermia and thyroid storm are intraoperative emergencies with overlapping symptoms but different treatment protocols. We faced this diagnostic dilemma in a 25-year-old patient with symptomatic hyperthyroidism, elevated free T3 and free T4, and low thyroid-stimulating hormone from Graves disease despite treatment with propranolol 80 mg daily and methimazole 40 mg every 8 hours. During thyroidectomy, he developed hyperthermia and hypercarbia without tachycardia. When the rate of rise of PaCO2 and temperature accelerated, we treated the patient for malignant hyperthermia, a diagnosis subsequently confirmed by genetic testing...
October 12, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28987207/keeping-cool-when-things-heat-up-during-a-malignant-hyperthermia-crisis
#12
Amy Dagestad, Melanie Hermann
This article describes the experience of a health care team at a maternity center during their care for a woman exhibiting an atypical presentation of malignant hyperthermia and outlines the steps taken to rapidly identify the condition and begin treatment to save her life. Key components in ensuring a positive outcome in a malignant hyperthermia crisis include increased awareness and readiness to effectively treat and reverse the signs and symptoms of this condition.
October 2017: Nursing for Women's Health
https://www.readbyqxmd.com/read/28952030/idiopathic-hyperckemia-and-malignant-hyperthermia-susceptibility
#13
Joilson M Santos, Pamela V Andrade, Leonardo Galleni, Mariz Vainzof, Claudia F R Sobreira, Beny Schmidt, Acary S B Oliveira, José L G Amaral, Helga C A Silva
PURPOSE: HyperCKemia is a persistent rise in serum creatine kinase (CK) levels of at least 1.5 times the normal value, as evidenced by a minimum of two measurements at 30-day intervals. One of the neuromuscular diseases associated with hyperCKemia is malignant hyperthermia (MH). This study investigated the susceptibility to MH in patients with hyperCKemia via in vitro contracture testing (IVCT) and a search of mutations in the RYR1 gene. METHODS: Patients in an MH centre were followed from 1997-2012, and their epidemiologic, clinical, and laboratory data were analyzed, including IVCT, muscle histochemical analysis, and next-generation sequencing molecular analysis...
September 26, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28939466/the-use-of-a-checklist-improves-anaesthesiologists-technical-and-non-technical-performance-for-simulated-malignant-hyperthermia-management
#14
Hardy Jean-Baptiste, Gouin Antoine, Damm Cédric, Compère Vincent, Veber Benoît, Dureuil Bertrand
No abstract text is available yet for this article.
September 19, 2017: Anaesthesia, Critical Care & Pain Medicine
https://www.readbyqxmd.com/read/28936184/hypothermia-due-to-antipsychotic-medication-a-systematic-review
#15
Cherryl Zonnenberg, Jolien M Bueno-de-Mesquita, Dharmindredew Ramlal, Jan Dirk Blom
BACKGROUND: Hypothermia is a rare, but potentially fatal adverse effect of antipsychotic drug (APD) use. Although the opposite condition, hyperthermia, has been researched extensively in the context of the malignant antipsychotic syndrome, little is known about hypothermia due to APDs. OBJECTIVE: This study aimed to review the literature on hypothermia in the context of APD use, and formulate implications for research and clinical care. METHODS: A systematic search was made in PubMed and Ovid Medline...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28926348/a-primer-for-diagnosing-and-managing-malignant-hyperthermia-susceptibility
#16
Marilyn Green Larach
No abstract text is available yet for this article.
September 19, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28922985/delayed-development-of-malignant-hyperthermia-following-cardiopulmonary-bypass
#17
Stephen Hall Sams, Stephen Revilla, David Lawrence Stahl
Malignant hyperthermia (MH) is a rare but potentially life-threatening disorder encountered during general anesthesia. The use of cardiopulmonary bypass during cardiac surgery can obscure many of the cardinal signs and symptoms of MH. The development of postoperative MH following cardiac surgery is rare, but anesthesiologists and intensivists must maintain a high index of suspicion in order to make a prompt diagnosis. Initiation and tailored maintenance of MH therapy must also consider the complex physiologic changes of patients in the immediate post-cardiac surgery period...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
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
#18
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
#19
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
#20
REVIEW
Ronald S Litman, Sarah M Griggs, James J Dowling, Sheila Riazi
No abstract text is available yet for this article.
September 12, 2017: Anesthesiology
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