Browsing by Author "McAuliffe, John J."

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    Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants
    (Future Medicine, 2019-09-27) Sadhasivam, Senthilkumar; Henker, Richard A.; Brandom, Barbara W.; McAuliffe, John J.; Anesthesia, School of Medicine
    Aim: Identify variants in RYR1, CACNA1S and STAC3, and predict malignant hyperthermia (MH) pathogenicity using Bayesian statistics in individuals clinically treated as MH susceptible (MHS). Materials & methods: Whole exome sequencing including RYR1, CACNA1S and STAC3 performed on 64 subjects with: MHS; suspected MH event or first-degree relative; and MH negative. Variant pathogenicity was estimated using in silico analysis, allele frequency and prior data to calculate Bayesian posterior probabilities. Results: Bayesian statistics predicted CACNA1S variant p.Thr1009Lys and RYR1 variants p.Ser1728Phe and p.Leu4824Pro are likely pathogenic, and novel STAC3 variant p.Met187Thr has uncertain significance. Nearly a third of MHS subjects had only benign variants. Conclusion: Bayesian method provides new approach to predict MH pathogenicity of genetic variants.
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    Correction to: Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary
    (Springer Nature, 2019-04) Skinner, Stanley A.; Aydinlar, Elif Ilgaz; Borges, Lawrence F.; Carter, Bob S.; Currier, Bradford L.; Deletis, Vedran; Dong, Charles; Dormans, John Paul; Drost, Gea; Fernandez-Conejero, Isabel; Hoffman, E. Matthew; Holdefer, Robert N.; Kimaid, Paulo Andre Teixeira; Koht, Antoun; Kothbauer, Karl F.; MacDonald, David B.; McAuliffe, John J.; Morledge, David E.; Morris, Susan H.; Norton, Jonathan; Novak, Klaus; Park, Kyung Seok; Perra, Joseph H.; Prell, Julian; Rippe, David M.; Sala, Francesco; Schwartz, Daniel M.; Segura, Martín J.; Seidel, Kathleen; Seubert, Christoph; Simon, Mirela V.; Soto, Francisco; Strommen, Jeffrey A.; Szelenyi, Andrea; Tello, Armando; Ulkatan, Sedat; Urriza, Javier; Wilkinson, Marshall; Pediatrics, School of Medicine
    The article Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary, written by Stanley A. Skinner, Elif Ilgaz Aydinlar, Lawrence F. Borges, Bob S. Carter, Bradford L. Currier, Vedran Deletis, Charles Dong, John Paul Dormans, Gea Drost, Isabel Fernandez‑Conejero, E. Matthew Hoffman, Robert N. Holdefer, Paulo Andre Teixeira Kimaid, Antoun Koht, Karl F. Kothbauer, David B. MacDonald, John J. McAuliffe III, David E. Morledge, Susan H. Morris, Jonathan Norton, Klaus Novak, Kyung Seok Park, Joseph H. Perra, Julian Prell, David M. Rippe, Francesco Sala, Daniel M. Schwartz, Martín J. Segura, Kathleen Seidel, Christoph Seubert, Mirela V. Simon, Francisco Soto, Jeffrey A. Strommen, Andrea Szelenyi, Armando Tello, Sedat Ulkatan, Javier Urriza and Marshall Wilkinson, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 05 January 2019 without open access. With the author(s)' decision to opt for Open Choice the copyright of the article changed on 30 January 2019 to © The Author(s) 2019 and the article is forthwith distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits use, duplication, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made. The original article has been corrected.
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    Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary
    (Springer Nature, 2019-04) Skinner, Stanley A.; Aydinlar, Elif Ilgaz; Borges, Lawrence F.; Carter, Bob S.; Currier, Bradford L.; Deletis, Vedran; Dong, Charles; Dormans, John Paul; Drost, Gea; Fernandez-Conejero, Isabel; Hoffman, E. Matthew; Holdefer, Robert N.; Kimaid, Paulo Andre Teixeira; Koht, Antoun; Kothbauer, Karl F.; MacDonald, David B.; McAuliffe, John J.; Morledge, David E.; Morris, Susan H.; Norton, Jonathan; Novak, Klaus; Park, Kyung Seok; Perra, Joseph H.; Prell, Julian; Rippe, David M.; Sala, Francesco; Schwartz, Daniel M.; Segura, Martín J.; Seidel, Kathleen; Seubert, Christoph; Simon, Mirela V.; Soto, Francisco; Strommen, Jeffrey A.; Szelenyi, Andrea; Tello, Armando; Ulkatan, Sedat; Urriza, Javier; Wilkinson, Marshall; Pediatrics, School of Medicine
    Erratum in Correction to: Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary. [J Clin Monit Comput. 2019] Comment in Response to: Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary. [J Clin Monit Comput. 2019] Comment on Practice guidelines for the supervising professional: intraoperative neurophysiological monitoring. [J Clin Monit Comput. 2019]