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Malignant Hyperthermia

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https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#1
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28538150/lanthanides-report-calcium-sensor-in-the-vestibule-of-ryanodine-receptor
#2
Sándor Sárközi, István Komáromi, István Jóna, János Almássy
Ca(2+) regulates ryanodine receptor's (RyR) activity through an activating and an inhibiting Ca(2+)-binding site located on the cytoplasmic side of the RyR channel. Their altered sensitivity plays an important role in the pathology of malignant hyperthermia and heart failure. We used lanthanide ions (Ln(3+)) as probes to investigate the Ca(2+) sensors of RyR, because they specifically bind to Ca(2+)-binding proteins and they are impermeable to the channel. Eu(3+)'s and Sm(3+)'s action was tested on single RyR1 channels reconstituted into planar lipid bilayers...
May 23, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28529748/local-modulated-electro-hyperthermia-in-combination-with-traditional-chinese-medicine-vs-intraperitoneal-chemoinfusion-for-the-treatment-of-peritoneal-carcinomatosis-with-malignant-ascites-a-phase-ii-randomized-trial
#3
Clifford L K Pang, Xinting Zhang, Zhen Wang, Junwen Ou, Yimin Lu, Pengfei Chen, Changlin Zhao, Xiaopu Wang, Hongyu Zhang, Sergey V Roussakow
The purpose of this study was to develop a safe and non-toxic alternative to the conventional conservative treatment of peritoneal carcinomatosis with malignant ascites (PCMA) by investigating the efficacy and safety of local modulated electro-hyperthermia (mEHT) combined with the traditional Chinese medicine (TCM) 'Shi Pi' herbal decoction, compared with standard intraperitoneal chemoinfusion (IPCI). A randomized, controlled, single-center, open-label clinical trial (phase II) with two parallel groups (allocation ratio, 1:1) was conducted to investigate the efficacy and safety of mEHT+TCM (study group, SG) vs...
May 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28527222/functional-characterization-of-c-terminal-ryanodine-receptor-1-variants-associated-with-central-core-disease-or-malignant-hyperthermia
#4
Remai Parker, Anja H Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, Kathryn M Stowell
BACKGROUND: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function. For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignant hyperthermia or central core disease...
May 15, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28524704/radiation-from-wireless-technology-elevates-blood-glucose-and-body-temperature-in-40-year-old-type-1-diabetic-male
#5
Catherine E Kleiber
A type 1 diabetic male reports multiple instances when his blood glucose was dramatically elevated by the presence of microwave radiation from wireless technology and plummeted when the radiation exposure ended. In one instance, his body temperature elevated in addition to his blood glucose. Both remained elevated for nearly 48 h after exposure with the effect gradually decreasing. Possible mechanisms for microwave radiation elevating blood glucose include effects on glucose transport proteins and ion channels, insulin conformational changes and oxidative stress...
May 19, 2017: Electromagnetic Biology and Medicine
https://www.readbyqxmd.com/read/28509122/severe-hyponatremia-in-a-patient-with-schizophrenia-associated-with-prolonged-consciousness-disturbance
#6
Kunihiko Yasuda, Takatsugu Iwashita, Yosuke Tayama, Yuko Makino, Ayumu Watanabe, Tatsuro Sano, Taisuke Shimizu, Tomonari Ogawa, Koichi Kanozawa, Hajime Hasegawa
Hyponatremia presents with various central nervous system symptoms during its course and treatment. We treated a patient who presented with a prolonged consciousness disorder and was suspected of having complications of neuroleptic malignant syndrome and osmotic demyelination syndrome (ODS) during the treatment for his hyponatremia, which was caused by syndrome of inappropriate secretion of antidiuretic hormone (SIADH). The patient was a 30-year-old Japanese man who had been under treatment for schizophrenia...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28494877/prevalence-of-malignant-hyperthermia-diagnosis-in-hospital-discharge-records-in-california-florida-new-york-and-wisconsin
#7
Zhen Lu, Henry Rosenberg, Guohua Li
STUDY OBJECTIVE: Malignant hyperthermia (MH) is a rare yet potentially fatal pharmacogenetic disorder triggered by exposure to inhalational anesthetics and the depolarizing neuromuscular blocking agent succinylcholine. Epidemiologic data on the geographic variation in MH prevalence is scant. The objective of this study is to examine the prevalence of recorded MH diagnosis in patients discharged from hospitals in four states in the United States. DESIGN: Observational study...
June 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28465322/strenuous-exercise-triggers-a-life-threatening-response-in-mice-susceptible-to-malignant-hyperthermia
#8
Antonio Michelucci, Cecilia Paolini, Simona Boncompagni, Marta Canato, Carlo Reggiani, Feliciano Protasi
In humans, hyperthermic episodes can be triggered by halogenated anesthetics [malignant hyperthermia (MH) susceptibility] and by high temperature [environmental heat stroke (HS)]. Correlation between MH susceptibility and HS is supported by extensive work in mouse models that carry a mutation in ryanodine receptor type-1 (RYR1(Y522S/WT)) and knockout of calsequestrin-1 (CASQ1-null), 2 proteins that control Ca(2+) release in skeletal muscle. As overheating episodes in humans have also been described during exertion, here we subjected RYR1(Y522S/WT) and CASQ1-null mice to an exertional-stress protocol (incremental running on a treadmill at 34°C and 40% humidity)...
May 2, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28451762/postoperative-prolonged-inflammatory-response-as-a-poor-prognostic-factor-after-curative-resection-for-gastric-cancer
#9
Yasuhiro Okumura, Naoki Hiki, Koshi Kumagai, Satoshi Ida, Souya Nunobe, Manabu Ohashi, Takeshi Sano
BACKGROUND: Postoperative inflammatory complications are associated with poorer prognosis in gastrointestinal malignancies. The aims of this study were to clarify the impact of postoperative inflammation itself on overall survival (OS) and relapse-free survival (RFS) in advanced gastric cancer patients. METHODS: We retrospectively analyzed 490 patients who underwent curative resection for pStage II and III gastric cancer from 2005 to 2008. We evaluated postoperative inflammation based on duration of hyperthermia (body temperature ≥38 °C) and leukocytosis (≥12,000/µL(-1))...
April 27, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28448298/anesthetic-consideration-for-neuromuscular-diseases
#10
Jeffery A Katz, Glenn S Murphy
PURPOSE OF REVIEW: The aim of this review is to examine data relating to perioperative management of the patient with neuromuscular disorders RECENT FINDINGS: Patients with pre-existing neuromuscular disorders are at risk for a number of postoperative complications that are related to anesthetic drugs that are administered intraoperatively. Careful preoperative assessment is necessary to reduce morbidity and mortality. In particular, the risk of postoperative respiratory failure and need for long-term ventilation should be reviewed with patients...
June 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28442967/a-case-report-of-suspected-malignant-hyperthermia-where-patient-survived-the-episode
#11
Asif Iqbal, Shoaib Badoo, Ruqsana Naqeeb
Malignant hyperthermia is rare inherited disorder in our part of the world; there are only few cases reported in literature in India who were suspected of having this condition. The overall incidence of malignant hyperthermia during general anesthesia is estimated to range from 1: 5000 to 1: 50,000-100,000 and mortality rate is estimated to be <5% in the presence of standard care. In India, there is no center where in vitro halothane caffeine contraction test is performed to confirm diagnosis in suspected cases...
April 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28442565/mind-the-magnesium-in-dantrolene-suppression-of-malignant-hyperthermia
#12
Stephen C Cannon
No abstract text is available yet for this article.
May 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28437058/psychotic-and-bipolar-disorders-antipsychotic-drugs
#13
Sarah D Holder, Alaina L Edmunds, Sherri Morgan
Antipsychotic drugs block dopamine receptors and are used to manage psychosis as well as other mental illnesses that may or may not have psychotic features, such as bipolar disorders and major depressive disorder. First-generation antipsychotic drugs are more likely to cause adverse effects such as extrapyramidal symptoms and tardive dyskinesia. Adverse effects of second-generation antipsychotic drugs typically are related to metabolic abnormalities such as weight gain, abnormal blood glucose levels, and elevated lipid levels...
April 2017: FP Essentials
https://www.readbyqxmd.com/read/28430550/round-table-on-malignant-hyperthermia-in-physically-active-populations-meeting-proceedings
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
May 2, 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
#20
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
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