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149 results on '"Muldoon, Sheila M."'

13. Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

Author

Sambuughin, Nyamkhishig, primary, Mungunsukh, Ognoon, additional, Ren, Mingqiang, additional, Capacchione, John F., additional, Horkayne-Szakaly, Iren, additional, Chuang, Kevin, additional, Muldoon, Sheila M., additional, Smith, Jonathan K., additional, O'Connor, Francis G., additional, and Deuster, Patricia A., additional

Published
2018
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14. Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings

Author

Hosokawa, Yuri, primary, Casa, Douglas J., primary, Rosenberg, Henry, primary, Capacchione, John F., primary, Sagui, Emmanuel, primary, Riazi, Sheila, primary, Belval, Luke N., primary, Deuster, Patricia A., primary, Jardine, John F., primary, Kavouras, Stavros A., primary, Lee, Elaine C., primary, Miller, Kevin C., primary, Muldoon, Sheila M., primary, O'Connor, Francis G., primary, Sailor, Scott R., primary, Sambuughin, Nyamkhishig, primary, Stearns, Rebecca L., primary, Adams, William M., primary, Huggins, Robert A., primary, and Vandermark, Lesley W., primary

Published
2017
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15. Clinical Significance of Ryanodine Receptor 1 Gene (RYR1) Variants: Proceedings of the 2013 MHAUS Scientific Conference

Author

Riazi, Sheila, Kraeva, Natalia, Muldoon, Sheila M., Dowling, James, Ho, Clara, Petre, Maria-Alexandra, Parness, Jerome, Dirksen, Robert T., and Rosenberg, Henry

Subjects
Article
Abstract

The Malignant Hyperthermia Association of the United States (MHAUS) and the Department of Anesthesia at the University of Toronto sponsored a Scientific Conference on November 1–2, 2013 in Toronto, Canada. The multidisciplinary group of experts, including clinicians, geneticists and physiologists involved in research related to malignant hyperthermia (MH), shared new insights into the pathophysiology of type-1 ryanodine receptor gene (RYR1)-linked diseases, as well as the relationship between MH and “awake MH” conditions, such as exertional rhabdomyolysis (ER) and exertional heat illness (EHI). In addition, the molecular genetics of MH, and clinical issues related to the diagnosis and management of RYR1-linked disorders, were presented. The conference also honored Dr. David H. MacLennan for his contributions to our understanding of the genetics, pathogenesis and treatment of MH and other RYR1-related myopathies. This report represents a summary of the proceedings of this conference.

Published
2014

17. Tribute to Paul M. Vanhoutte, MD, PhD (1940–2019)

Author

Boulanger, Chantal M., Baretella, Oliver, Blaise, Gilbert, Bond, Richard A., Cai, Yin, Chan, Calvin K.Y., Chataigneau, Thierry, Chen, Maggie Jie, Chen, Hui, Cheng, Yanhua, Clement, Denis L., Cohen, Richard A., Collis, Michael, Danser, A.H. Jan, de Mey, Jo, Detremmerie, Charlotte M.S., Duprez, Daniel, Feletou, Michel, Flavahan, Nicolas, Gao, Yuansheng, Guo, Yumeng, Hoeffner, Ute, Houston, Donald S., Huang, Ianto Boscheng, Huang, Yu, Iliano, Stephane, Junquero, Didier, Katusic, Zvonimir S., Komori, Kimihiro, Lee, Mary Y.K., Leung, Susan W.S., Li, Zhuoming, Liang, Sophie Chaofan, Liu, Jacky Tsz Chiu, Luscher, Thomas F., Michel, Frederic, Miller, Virginia M., Mombouli, Jean-Vivien, Morrison, Keith, Muldoon, Sheila M., O’Rourke, Steve, Perrault, Louis, Quignard, Jean Francois, Rusch, Nancy J., Sanchez-Ferrer, Carlos F., Schini-Kerth, Valerie, Shen, Kaikai, Shi, Yi, Song, Erfei, Sun, Kiwi W.Y., Taddei, Stefano, Tang, Eva Hoi Ching, Tuncer, Meral, van den Ende, Romana, Vedernikov, Yuri, Verbeuren, Tony J., Webb, Clinton, Weigert, André, Wong, Kenneth H.K., Xu, Cheng, Yang, Kangmin, Ying, Fan, Zellers, Thomas, Zhao, Yingzi, Zou, Qian, and Shimokawa, Hiroaki

Published
2019
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18. Improving Awareness of Nonanesthesia-Related Malignant Hyperthermia Presentations

Author

Potts, Lauren E., primary, Longwell, Jason J., additional, Bedocs, Peter, additional, Sambuughin, Nyamkhishig, additional, Bina, Saiid, additional, Cooper, Patrick B., additional, Carroll, Craig G., additional, O’Connor, Francis, additional, Deuster, Patricia, additional, Muldoon, Sheila M., additional, Hamilton, Susan, additional, and Capacchione, John F., additional

Published
2014
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19. Novel Interventions for Heat/Exercise Induced Sudden Death and Fatigue

Author

BAYLOR COLL OF MEDICINE HOUSTON TX, Hamilton, Susan L, Capacchione, John, Muldoon, Sheila M, Sambuughin, Nyamkhishig, Bunger, Rolf, Wallacer, Tarina, BAYLOR COLL OF MEDICINE HOUSTON TX, Hamilton, Susan L, Capacchione, John, Muldoon, Sheila M, Sambuughin, Nyamkhishig, Bunger, Rolf, and Wallacer, Tarina

Abstract

Exertional and/or environmental heat stroke (ES) and exertional rhabdomyolysis (ER) has been reported in patients with diagnosis of Malignant Hyperthermia (MH). MH is a life-threatening pharmacogenetic disorder caused by mutations in the ryanodine receptor type 1 gene (RYR1) encoding skeletal muscle calcium release channel. Our goal is to identify RYR1 mutations associated with enhanced susceptibility to EHS/ER/MH by enrolling subjects diagnosed with these conditions and performing genetic screening. We also proposed to evaluate the ability of AICAR to prevent the MH response in MHS mice and pigs., The original document contains color images.

Published
2012

20. Novel Interventions for Heat/Exercise Induced Sudden Death and Fatigue

Author

BAYLOR COLL OF MEDICINE HOUSTON TX, Hamilton, Susan L, Muldoon, Sheila M, Capacchione, John, Sambuughin, Nyamkhishig, Bunger, Rolf, BAYLOR COLL OF MEDICINE HOUSTON TX, Hamilton, Susan L, Muldoon, Sheila M, Capacchione, John, Sambuughin, Nyamkhishig, and Bunger, Rolf

Abstract

The goals are 1) to indentify RYR1 mutations associated with enhanced susceptibility to EHS/ER/MH by enrolling subjects diagnosed with these conditions and performing genetic screening. 2) to determine the mechanism of action of aminoimidazole carboxamide ribonucleotide (AICAR) and A769662 compound and test their suitability as interventions to prevent heat induced deaths in the porcine MH models. During the project period, 10 individuals were enrolled. RYR1 mutations/variants were identified in 5 of 10 enrolled subjects. Three of these mutations have been described as Malignant Hyperthermia (MH) causative mutations (Arg163Cys, Gly2434Arg and Arg2454Cys); one previously published MHS associated mutation, and one novel variant were identified in the RYR1 gene. Of the common mutations, the Arg2454Cys was identified in African American with positive CHCT results and a history of exertional rhabdomyolysis (ER). Identification of this mutation in a subject with ER further strengthens a link between MHS and ER. A new variant, Gly4820Arg, was found in a family with a history of death due to MHS and heat exertion. In the swine model of MH we compared the effectiveness of AICAR with dantrolene (2.4mgs/kg) in treatment of halothane triggered MH . Dantrolene was consistently effective, but AICAR 300,600 and -1200mgs/Kg was ineffective as a pre or post treatment for anesthetic induced MH. Consistent with this, AICAR prevents the heat induced deaths but not the anesthetic induced deaths in the mouse model of MH, suggesting different mechanisms. We demonstrate that AICAR prevents the heat response by preventing Ca2+ leak from RyR1., The original document contains color images.

Published
2011

22. Death in the Emergency Department

Author

Lavezzi, Wendy A., primary, Capacchione, John F., additional, Muldoon, Sheila M., additional, Sambuughin, Nyamkhishig, additional, Bina, Saiid, additional, Steele, Deanna, additional, and Brandom, Barbara W., additional

Published
2013
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23. Identical De Novo Mutation in the Type 1 Ryanodine Receptor Gene Associated With Fatal, Stress-Induced Malignant Hyperthermia in Two Unrelated Families

Author

Groom, Linda, primary, Muldoon, Sheila M., additional, Tang, Zhen Zhi, additional, Brandom, Barbara W., additional, Bayarsaikhan, Munkhuu, additional, Bina, Saiid, additional, Lee, Hee-Suk, additional, Qiu, Xing, additional, Sambuughin, Nyamkhishig, additional, and Dirksen, Robert T., additional

Published
2012
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24. Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

Author

Groom, Linda, primary, Muldoon, Sheila M., additional, Tang, Zhen Zhi, additional, Brandom, Barbara W., additional, Bayarsaikhan, Munkhuu, additional, Bina, Saiid, additional, Lee, Hee-Suk, additional, Qiu, Xing, additional, Sambuughin, Nyamkhishig, additional, and Dirksen, Robert T., additional

Published
2011
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30. Malignant Hyperthermia in North America

Author

Sei, Yoshitatsu, primary, Sambuughin, Nyamkhishig N., additional, Davis, Edward J., additional, Sachs, Daniel, additional, Cuenca, Phil B., additional, Brandom, Barbara W., additional, Tautz, Timothy, additional, Rosenberg, Henry, additional, Nelson, Thomas E., additional, and Muldoon, Sheila M., additional

Published
2004
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35. North American Malignant Hyperthermia Population

Author

Sambuughin, Nyamkhishig, primary, Sei, Yoshitatsu, additional, Gallagher, Kathleen L., additional, Wyre, Hadley W., additional, Madsen, Daniel, additional, Nelson, Thomas E., additional, Fletcher, Jeffrey E., additional, Rosenberg, Henry, additional, and Muldoon, Sheila M., additional

Published
2001
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47. A Clinical Grading Scale to Predict Malignant Hyperthermia Susceptibility

Author

Larach, Marilyn Green, primary, Localio, A Russell, additional, Allen, Gregory C., additional, Denborough, Michael A., additional, Ellis, F Richard, additional, Gronert, Gerald A., additional, Kaplan, Richard F., additional, Muldoon, Sheila M., additional, Nelson, Thomas E., additional, Ørding, Helle, additional, Rosenberg, Henry, additional, Waud, Barbara E., additional, and Wedel, Denise J., additional

Published
1994
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