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106. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Author

Sheppard, SE, Campbell, IM, Harr, MH, Gold, N, Li, D, Bjornsson, HT, Cohen, JS, Fahrner, JA, Fatemi, A, Harris, JR, Nowak, C, Stevens, CA, Grand, K, Au, M, Graham, JM, Sanchez-Lara, PA, Del Campo, M, Jones, MC, Abdul-Rahman, O, Alkuraya, FS, Bassetti, JA, Bergstrom, K, Bhoj, E, Dugan, S, Kaplan, JD, Derar, N, Gripp, KW, Hauser, N, Innes, AM, Keena, B, Kodra, N, Miller, R, Nelson, B, Nowaczyk, MJ, Rahbeeni, Z, Ben-Shachar, S, Shieh, JT, Slavotinek, A, Sobering, AK, Abbott, M-A, Allain, DC, Amlie-Wolf, L, Au, PYB, Bedoukian, E, Beek, G, Barry, J, Berg, J, Bernstein, JA, Cytrynbaum, C, Chung, BH-Y, Donoghue, S, Dorrani, N, Eaton, A, Flores-Daboub, JA, Dubbs, H, Felix, CA, Fong, C-T, Fung, JLF, Gangaram, B, Goldstein, A, Greenberg, R, Ha, TK, Hersh, J, Izumi, K, Kallish, S, Kravets, E, Kwok, P-Y, Jobling, RK, Johnson, AEK, Kushner, J, Lee, BH, Levin, B, Lindstrom, K, Manickam, K, Mardach, R, McCormick, E, McLeod, DR, Mentch, FD, Minks, K, Muraresku, C, Nelson, SF, Porazzi, P, Pichurin, PN, Powell-Hamilton, NN, Powis, Z, Ritter, A, Rogers, C, Rohena, L, Ronspies, C, Schroeder, A, Stark, Z, Starr, L, Stoler, J, Suwannarat, P, Velinov, M, Weksberg, R, Wilnai, Y, Zadeh, N, Zand, DJ, Falk, MJ, Hakonarson, H, Zackai, EH, Quintero-Rivera, F, Sheppard, SE, Campbell, IM, Harr, MH, Gold, N, Li, D, Bjornsson, HT, Cohen, JS, Fahrner, JA, Fatemi, A, Harris, JR, Nowak, C, Stevens, CA, Grand, K, Au, M, Graham, JM, Sanchez-Lara, PA, Del Campo, M, Jones, MC, Abdul-Rahman, O, Alkuraya, FS, Bassetti, JA, Bergstrom, K, Bhoj, E, Dugan, S, Kaplan, JD, Derar, N, Gripp, KW, Hauser, N, Innes, AM, Keena, B, Kodra, N, Miller, R, Nelson, B, Nowaczyk, MJ, Rahbeeni, Z, Ben-Shachar, S, Shieh, JT, Slavotinek, A, Sobering, AK, Abbott, M-A, Allain, DC, Amlie-Wolf, L, Au, PYB, Bedoukian, E, Beek, G, Barry, J, Berg, J, Bernstein, JA, Cytrynbaum, C, Chung, BH-Y, Donoghue, S, Dorrani, N, Eaton, A, Flores-Daboub, JA, Dubbs, H, Felix, CA, Fong, C-T, Fung, JLF, Gangaram, B, Goldstein, A, Greenberg, R, Ha, TK, Hersh, J, Izumi, K, Kallish, S, Kravets, E, Kwok, P-Y, Jobling, RK, Johnson, AEK, Kushner, J, Lee, BH, Levin, B, Lindstrom, K, Manickam, K, Mardach, R, McCormick, E, McLeod, DR, Mentch, FD, Minks, K, Muraresku, C, Nelson, SF, Porazzi, P, Pichurin, PN, Powell-Hamilton, NN, Powis, Z, Ritter, A, Rogers, C, Rohena, L, Ronspies, C, Schroeder, A, Stark, Z, Starr, L, Stoler, J, Suwannarat, P, Velinov, M, Weksberg, R, Wilnai, Y, Zadeh, N, Zand, DJ, Falk, MJ, Hakonarson, H, Zackai, EH, and Quintero-Rivera, F

Abstract

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

Published
2021

107. Thanks to Reviewers!

Author

Adams, R, Bahnson, M, Bhaduri, S, Adams, T, Bairaktarova, D, Bielefeldt, A, Aguirre-Munoz, Z, Balakrishnan, B, Blosser, EG, Ahn, B, Beagon, U, Bodnar, C, Aleong, R, Becker, K, Borgford-Parnell, J, Amelink, C, Beddoes, K, Maura, B, Anderson, R, Bego, C, Bowe, B, Andrews, CJ, Beigpourian, B, Bowen, B, Angel, J, Bekki, J, Boyd, J, Fonseca, MA, Bennett, D, Bradburn, I, Kranov, AA, Berdanier, C, Brady, C, Bae, CL, Bernhard, J, Brawner, C, Brose, A, Case, J, Cropley, D, Brown, F, Cassady, R, Cross, K, Brown, P, Celik, S, Cunningham, P, Ben, C, Cutler, S, Brown, S, Chance, SM, Dabbagh, N, Brozina, C, Chen, H, Dallal, A, Brunhaver, S, Chen, O, Daly, S, Bryant, A, Cheville, RA, Daniel, S, Bucciarelli, L, Chiu, J, Danowitz, A, Burkholder, E, Choe, NH, Darolia, R, Burks, G, Clark, R, Davis, K, Burt, B, Clevenger, C, Davis, S, Canney, N, Cole, J, de Jong, T, Cao, Y, Coley, B, De Vries, C, Caratozzolo, P, Cooper, L, Delaine, D, Carballo, R, Cooper, M, DeMonbrun, R, Cardella, M, Craig, T, Denton, M, Di Stefano, M, Erdman, AM, Gilmartin, S, DiBiasio, D, Eris, O, Gladstone, J, Diefes-Dux, H, Evangelou, D, Glancy, A, Dika, S, Ewen, B, Godwin, A, Direito, I, Faber, C, Goldsmith, R, Dohn, N, Falconer, J, Grigg, SJ, Dolansky, M, Fantz, T, Grohs, J, Faulkner, B, Doom, D, Felder, R, Gummer, E, Douglas, E, Ferris, T, Guzey, S, Douglas, KA, Figueiredo, J, Hadgraft, R, Dounas-Frazer, D, Fiorella, L, Hammack, R, Dringenberg, E, Flores, L, Han, K, Duffy, G, Fong, C, Harding, T, Easley, D, Fowler, RR, Harper, K, Eccles, J, Friedrichsen, D, Hartmann, B, Edstrom, K, Ge, J, Hattingh, T, Ellestad, R, Gelles, L, Henderson, R, Henderson, TS, Immekus, J, Kamphorst, J, Herman, G, Inda, M, Karatas, F, Hess, J, Itabashi-Campbell, R, Kartal, O, Hieb, J, Jackson, A, Karwat, D, Higbee, S, Jankowski, N, Katz, A, Hilton, E, Javernick-Will, A, Keipi, T, Hira, A, Jensen, KJ, Kim, D, Hirshfield, L, Smith, J, Kirn, A, Knaphus-Soran, E, Holly, J, Jesiek, B, Knight, D, Horng, S-M, Johnson, A, Knott, T, Huang-Saad, A, Johnson, B, Kohl, P, Huerta, M, Johri, A, Kohtala, C, Huff, J, Jones, B, Komives, S, Hughes, B, Jones, L, Korsunskiy, E, Hughes, R, Jones, T, Kotys-Schwartz, D, Hunsu, N, Kaminski, J, Kramer, J, Hunter, C, Kampe, J-C, Inkelas, KK, Lamm, M, Lonngren, J, McCall, C, Lande, M, Lottero-Perdue, PS, McCave, E, Lappalainen, P, Aguilar, JFL, McCray, E, Lawanto, O, Lucena, J, McGee, E, Lawson, J, Luk, LYY, McGough, C, Leath, S, Lutz, B, McGowan, V, Lee, D, Ma, Y, McNair, LD, Lee, W, Madon, T, McNaughtan, J, Liberatore, M, Mamaril, N, McNeill, N, Lichtenstein, G, Mangiante, E, Mejia, J, Lima, M, Martin, B, Diaz, NM, Lima, RM, Martin, K, Menekse, M, Lin, J, Lippard, C, Mones, AM, Mesquita, DIDA, Michell, K, Litzler, E, Matthews, M, Miller, S, Lo, CK, Matusovich, H, Minichiello, A, London, J, Maynard, N, Miskioglu, EE, Longwell-Grice, R, Mazzurco, A, Yusof, KM, Mohedas, I, Nghia, TLH, Pearson, A, Monat, J, Norton, P, Pearson, N, Monteiro, F, Novoselich, BJ, Pembridge, J, Moote, J, Noy, S, Perez-Felkner, L, Mora, M, O'Hara, R, Perkins, H, O'Moore, L, Peters-Burton, E, Morgan, D, Ohland, M, Pfirman, A, Morgan, T, Okai, B, Pinto, C, Morton, T, Olds, B, Pitterson, N, Mosyjowski, E, Orr, M, Polmear, M, Murphy, T, Ortega-Alvarez, JD, Prince, T, Murray, J, Oseguera, L, Purzer, S, Murzi, H, Owen, C, Quan, GM, Nagy, G, Ozkan, DS, Quillin, K, Natarajathinam, M, Panther, G, Rayess, N, Nelson, M, Patrick, A, Reed, T, Newberry, B, Paul, K, Reeping, D, Newstetter, W, Pawley, A, Reese, M, Reid, K, Rulifson, G, Shivy, V, Renn, K, Rynearson, AM, Simpson, Z, Ricco, G, Sanchez-Pena, ML, Sitomer, A, Richards, L, Saunders-Smits, G, Siverling, E, Rios, L, Sax, L, Slaton, A, Ro, HK, Schimpf, C, Sleezer, R, Roberts, D, Rodgers, K, Schippers, M, Smith-On, C, Rodriguez, S, Schnittka, C, Schunn, C, Rogers, C, Seah, LH, Rohde, J, Rohrer, D, Secules, S, Smith, K, Smith, N, Romine, W, Seifert, C, Sochacka, N, Ross, L, Sessa, V, Stearns, E, Ross, M, Sharp, H, Steif, M, Rottmann, C, Sharp, J, Stephan, P, Rucks, L, Shaw, C, Stevens, R, Streveler, R, Tolbert, D, van Der Marel, F, Strobel, J, Toraman, S, van Hattum, N, Stump, G, Tougaw, D, Verdin, D, Su, X, Trautvetter, LC, Verleger, M, Sundararaja, N, Trenshaw, KF, Vieira, C, Trevelyan, J, Svihla, V, Troussas, C, Villanueva, I, Swan, C, Tsai, J, Vinck, D, Virguez, L, Swanson, R, Tsugawa, MA, Vitasari, P, Sweeny, K, Tuononen, T, Vossoughi, S, Swenson, J, Turner, J, Wallin, P, Talley, K, Turner, S, Tan, L, Tyson, W, Watted, A, Tang, Y, Utley, J, Webber, K, Tank, K, Vasquez, RV, Weintrop, D, Thomas, K, Valdivia, A, Weiss, E, Thompson, JD, Valentine, A, West, R, Tierney, G, Van den Bogaard, M, Wiles, D, Wilson-Lopez, AA, Xinrui, X, Zastavker, Y, Wilson, D, Xu, YJ, Zhang, G, Wolmarans, N, Yang, Y, Zhu, J, Wong, R, Yi, S, Zoltowski, CB, Woollacott, L, Yoon, SY, Adams, R, Bahnson, M, Bhaduri, S, Adams, T, Bairaktarova, D, Bielefeldt, A, Aguirre-Munoz, Z, Balakrishnan, B, Blosser, EG, Ahn, B, Beagon, U, Bodnar, C, Aleong, R, Becker, K, Borgford-Parnell, J, Amelink, C, Beddoes, K, Maura, B, Anderson, R, Bego, C, Bowe, B, Andrews, CJ, Beigpourian, B, Bowen, B, Angel, J, Bekki, J, Boyd, J, Fonseca, MA, Bennett, D, Bradburn, I, Kranov, AA, Berdanier, C, Brady, C, Bae, CL, Bernhard, J, Brawner, C, Brose, A, Case, J, Cropley, D, Brown, F, Cassady, R, Cross, K, Brown, P, Celik, S, Cunningham, P, Ben, C, Cutler, S, Brown, S, Chance, SM, Dabbagh, N, Brozina, C, Chen, H, Dallal, A, Brunhaver, S, Chen, O, Daly, S, Bryant, A, Cheville, RA, Daniel, S, Bucciarelli, L, Chiu, J, Danowitz, A, Burkholder, E, Choe, NH, Darolia, R, Burks, G, Clark, R, Davis, K, Burt, B, Clevenger, C, Davis, S, Canney, N, Cole, J, de Jong, T, Cao, Y, Coley, B, De Vries, C, Caratozzolo, P, Cooper, L, Delaine, D, Carballo, R, Cooper, M, DeMonbrun, R, Cardella, M, Craig, T, Denton, M, Di Stefano, M, Erdman, AM, Gilmartin, S, DiBiasio, D, Eris, O, Gladstone, J, Diefes-Dux, H, Evangelou, D, Glancy, A, Dika, S, Ewen, B, Godwin, A, Direito, I, Faber, C, Goldsmith, R, Dohn, N, Falconer, J, Grigg, SJ, Dolansky, M, Fantz, T, Grohs, J, Faulkner, B, Doom, D, Felder, R, Gummer, E, Douglas, E, Ferris, T, Guzey, S, Douglas, KA, Figueiredo, J, Hadgraft, R, Dounas-Frazer, D, Fiorella, L, Hammack, R, Dringenberg, E, Flores, L, Han, K, Duffy, G, Fong, C, Harding, T, Easley, D, Fowler, RR, Harper, K, Eccles, J, Friedrichsen, D, Hartmann, B, Edstrom, K, Ge, J, Hattingh, T, Ellestad, R, Gelles, L, Henderson, R, Henderson, TS, Immekus, J, Kamphorst, J, Herman, G, Inda, M, Karatas, F, Hess, J, Itabashi-Campbell, R, Kartal, O, Hieb, J, Jackson, A, Karwat, D, Higbee, S, Jankowski, N, Katz, A, Hilton, E, Javernick-Will, A, Keipi, T, Hira, A, Jensen, KJ, Kim, D, Hirshfield, L, Smith, J, Kirn, A, Knaphus-Soran, E, Holly, J, Jesiek, B, Knight, D, Horng, S-M, Johnson, A, Knott, T, Huang-Saad, A, Johnson, B, Kohl, P, Huerta, M, Johri, A, Kohtala, C, Huff, J, Jones, B, Komives, S, Hughes, B, Jones, L, Korsunskiy, E, Hughes, R, Jones, T, Kotys-Schwartz, D, Hunsu, N, Kaminski, J, Kramer, J, Hunter, C, Kampe, J-C, Inkelas, KK, Lamm, M, Lonngren, J, McCall, C, Lande, M, Lottero-Perdue, PS, McCave, E, Lappalainen, P, Aguilar, JFL, McCray, E, Lawanto, O, Lucena, J, McGee, E, Lawson, J, Luk, LYY, McGough, C, Leath, S, Lutz, B, McGowan, V, Lee, D, Ma, Y, McNair, LD, Lee, W, Madon, T, McNaughtan, J, Liberatore, M, Mamaril, N, McNeill, N, Lichtenstein, G, Mangiante, E, Mejia, J, Lima, M, Martin, B, Diaz, NM, Lima, RM, Martin, K, Menekse, M, Lin, J, Lippard, C, Mones, AM, Mesquita, DIDA, Michell, K, Litzler, E, Matthews, M, Miller, S, Lo, CK, Matusovich, H, Minichiello, A, London, J, Maynard, N, Miskioglu, EE, Longwell-Grice, R, Mazzurco, A, Yusof, KM, Mohedas, I, Nghia, TLH, Pearson, A, Monat, J, Norton, P, Pearson, N, Monteiro, F, Novoselich, BJ, Pembridge, J, Moote, J, Noy, S, Perez-Felkner, L, Mora, M, O'Hara, R, Perkins, H, O'Moore, L, Peters-Burton, E, Morgan, D, Ohland, M, Pfirman, A, Morgan, T, Okai, B, Pinto, C, Morton, T, Olds, B, Pitterson, N, Mosyjowski, E, Orr, M, Polmear, M, Murphy, T, Ortega-Alvarez, JD, Prince, T, Murray, J, Oseguera, L, Purzer, S, Murzi, H, Owen, C, Quan, GM, Nagy, G, Ozkan, DS, Quillin, K, Natarajathinam, M, Panther, G, Rayess, N, Nelson, M, Patrick, A, Reed, T, Newberry, B, Paul, K, Reeping, D, Newstetter, W, Pawley, A, Reese, M, Reid, K, Rulifson, G, Shivy, V, Renn, K, Rynearson, AM, Simpson, Z, Ricco, G, Sanchez-Pena, ML, Sitomer, A, Richards, L, Saunders-Smits, G, Siverling, E, Rios, L, Sax, L, Slaton, A, Ro, HK, Schimpf, C, Sleezer, R, Roberts, D, Rodgers, K, Schippers, M, Smith-On, C, Rodriguez, S, Schnittka, C, Schunn, C, Rogers, C, Seah, LH, Rohde, J, Rohrer, D, Secules, S, Smith, K, Smith, N, Romine, W, Seifert, C, Sochacka, N, Ross, L, Sessa, V, Stearns, E, Ross, M, Sharp, H, Steif, M, Rottmann, C, Sharp, J, Stephan, P, Rucks, L, Shaw, C, Stevens, R, Streveler, R, Tolbert, D, van Der Marel, F, Strobel, J, Toraman, S, van Hattum, N, Stump, G, Tougaw, D, Verdin, D, Su, X, Trautvetter, LC, Verleger, M, Sundararaja, N, Trenshaw, KF, Vieira, C, Trevelyan, J, Svihla, V, Troussas, C, Villanueva, I, Swan, C, Tsai, J, Vinck, D, Virguez, L, Swanson, R, Tsugawa, MA, Vitasari, P, Sweeny, K, Tuononen, T, Vossoughi, S, Swenson, J, Turner, J, Wallin, P, Talley, K, Turner, S, Tan, L, Tyson, W, Watted, A, Tang, Y, Utley, J, Webber, K, Tank, K, Vasquez, RV, Weintrop, D, Thomas, K, Valdivia, A, Weiss, E, Thompson, JD, Valentine, A, West, R, Tierney, G, Van den Bogaard, M, Wiles, D, Wilson-Lopez, AA, Xinrui, X, Zastavker, Y, Wilson, D, Xu, YJ, Zhang, G, Wolmarans, N, Yang, Y, Zhu, J, Wong, R, Yi, S, Zoltowski, CB, Woollacott, L, and Yoon, SY

Published
2021

112. Management of adult cardiac arrest in the COVID-19 era: consensus statement from the Australasian College for Emergency Medicine.

Author

Allely P., Cameron P.A., Psihogios H., Judkins S., Bernard S., Foong L.H., Craig S., Cubitt M., Jaison A., Troupakis S., Hood N., Fong C., Bilgrami A., Leman P., Ascencio-Lane J.C., Nagaraj G., Bonning J., Blecher G., Mitchell R., Burkett E., McCarthy S.M., Rojek A.M., Hansen K., Allely P., Cameron P.A., Psihogios H., Judkins S., Bernard S., Foong L.H., Craig S., Cubitt M., Jaison A., Troupakis S., Hood N., Fong C., Bilgrami A., Leman P., Ascencio-Lane J.C., Nagaraj G., Bonning J., Blecher G., Mitchell R., Burkett E., McCarthy S.M., Rojek A.M., and Hansen K.

Abstract

Introduction: The global pandemic of coronavirus disease 2019 (COVID-19) has caused significant worldwide disruption. Although Australia and New Zealand have not been affected as much as some other countries, resuscitation may still pose a risk to health care workers and necessitates a change to our traditional approach. This consensus statement for adult cardiac arrest in the setting of COVID-19 has been produced by the Australasian College for Emergency Medicine (ACEM) and aligns with national and international recommendations. Main recommendations: In a setting of low community transmission, most cardiac arrests are not due to COVID-19. Early defibrillation saves lives and is not considered an aerosol generating procedure. Compression-only cardiopulmonary resuscitation is thought to be a low risk procedure and can be safely initiated with the patient's mouth and nose covered. All other resuscitative procedures are considered aerosol generating and require the use of airborne personal protective equipment (PPE). It is important to balance the appropriateness of resuscitation against the risk of infection. Methods to reduce nosocomial transmission of COVID-19 include a physical barrier such as a towel or mask over the patient's mouth and nose, appropriate use of PPE, minimising the staff involved in resuscitation, and use of mechanical chest compression devices when available. If COVID-19 significantly affects hospital resource availability, the ethics of resource allocation must be considered. Changes in management: The changes outlined in this document require a significant adaptation for many doctors, nurses and paramedics. It is critically important that all health care workers have regular PPE and advanced life support training, are able to access in situ simulation sessions, and receive extensive debriefing after actual resuscitations. This will ensure safe, timely and effective management of the patients with cardiac arrest in the COVID-19 era.Copyright © 20

Published
2020

113. Management of adult cardiac arrest in theCOVID-19 era: consensus statement from the Australasian College for Emergency Medicine

Author

Craig, S, Cubitt, M, Jaison, A, Troupakis, S, Hood, N, Fong, C, Bilgrami, A, Leman, P, Ascencio-Lane, JC, Nagaraj, G, Bonning, J, Blecher, G, Mitchell, R, Burkett, E, McCarthy, SM, Rojek, AM, Hansen, K, Psihogios, H, Allely, P, Judkins, S, Foong, LH, Bernard, S, Cameron, PA, Craig, S, Cubitt, M, Jaison, A, Troupakis, S, Hood, N, Fong, C, Bilgrami, A, Leman, P, Ascencio-Lane, JC, Nagaraj, G, Bonning, J, Blecher, G, Mitchell, R, Burkett, E, McCarthy, SM, Rojek, AM, Hansen, K, Psihogios, H, Allely, P, Judkins, S, Foong, LH, Bernard, S, and Cameron, PA

Abstract

INTRODUCTION: The global pandemic of coronavirus disease 2019 (COVID-19) has caused significant worldwide disruption. Although Australia and New Zealand have not been affected as much as some other countries, resuscitation may still pose a risk to health care workers and necessitates a change to our traditional approach. This consensus statement for adult cardiac arrest in the setting of COVID-19 has been produced by the Australasian College for Emergency Medicine (ACEM) and aligns with national and international recommendations. MAIN RECOMMENDATIONS: In a setting of low community transmission, most cardiac arrests are not due to COVID-19. Early defibrillation saves lives and is not considered an aerosol generating procedure. Compression-only cardiopulmonary resuscitation is thought to be a low risk procedure and can be safely initiated with the patient's mouth and nose covered. All other resuscitative procedures are considered aerosol generating and require the use of airborne personal protective equipment (PPE). It is important to balance the appropriateness of resuscitation against the risk of infection. Methods to reduce nosocomial transmission of COVID-19 include a physical barrier such as a towel or mask over the patient's mouth and nose, appropriate use of PPE, minimising the staff involved in resuscitation, and use of mechanical chest compression devices when available. If COVID-19 significantly affects hospital resource availability, the ethics of resource allocation must be considered. CHANGES IN MANAGEMENT: The changes outlined in this document require a significant adaptation for many doctors, nurses and paramedics. It is critically important that all health care workers have regular PPE and advanced life support training, are able to access in situ simulation sessions, and receive extensive debriefing after actual resuscitations. This will ensure safe, timely and effective management of the patients with cardiac arrest in the COVID-19 era.

Published
2020

115. T6 Sputum proteomics identifies mechanisms of disease severity and treatment response in bronchiectasis

Author

Keir, HR, primary, Shoemark, A, additional, Crichton, ML, additional, Dicker, A, additional, Pollock, J, additional, Giam, A, additional, Cassidy, A, additional, Fong, C, additional, Finch, S, additional, Furrie, E, additional, Suarez-Cuartin, G, additional, Fardon, TC, additional, Einarsson, G, additional, Elborn, JS, additional, Aliberti, S, additional, Sibila, O, additional, Huang, J, additional, and Chalmers, JD, additional

Published
2021
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117. Two prospective Li-based half-Heusler alloys for spintronic applications based on structural stability and spin--orbit effect.

Author

Zhang, R. L., Damewood, L., Zeng, Y. J., Xing, H. Z., Fong, C. Y., Yang, L. H., Peng, R. W., and Felser, C.

Subjects
SPINTRONICS, METALS, APRIORI algorithm, STRUCTURAL stability, SPIN-orbit interactions, ATOMIC interactions
Abstract

To search for half-metallic materials for spintronic applications, instead of using an expensive trial-and-error experimental scheme, it is more efficient to use first-principles calculations to design materials first, and then grow them. In particular, using a priori information of the structural stability and the effect of the spin--orbit interaction (SOI) enables experimentalists to focus on favorable properties that make growing half-metals easier. We suggest that using acoustic phonon spectra is the best way to address the stability of promising half-metallic materials. Additionally, by carrying out accurate first-principles calculations, we propose two criteria for neglecting the SOI so the half-metallicity persists. Based on the mechanical stability and the negligible SOI, we identified two half-metals, β-LiCrAs and β-LiMnSi, as promising half-Heusler alloys worth growing. [ABSTRACT FROM AUTHOR]

Published
2017
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118. Using herbal medicine as a means of prevention experience during the SARS crisis

Author

Lau, T.F., Leung, P.C., Wong, E.L.Y., Fong, C., Cheng, K.F., Zhang, S.C., Lam, C.W.K., Wong, V., Choy, K.M., and Ko, W.M.

Subjects
Influenza -- Care and treatment, Medical personnel -- Health aspects, Medicinal plants -- Usage, Severe acute respiratory syndrome -- Prevention, Severe acute respiratory syndrome -- Risk factors, Health
Published
2005

120. Involvement of NF-κB and c-myc signaling pathways in the apoptosis of HL-60 cells induced by alkaloids of Tripterygium hypoglaucum (levl.) Hutch

Author

Zhuang, W.-J., Fong, C.-C., Cao, J., Ao, L., Leung, C.-H., Cheung, H.-Y., Xiao, P.-G., Fong, W.-F., and Yang, M.-S.

Subjects
Celastraceae -- Health aspects -- Research, Autoimmune diseases -- Care and treatment -- Research, Biological sciences, Health, Science and technology, Care and treatment, Research, Health aspects
Abstract

Summary Tripterygium hypoglaucum (levl.) Hutch (Celastraceae) (THH) root is a Chinese medicinal herb commonly used for treating autoimmune diseases. In the present study, alkaloids of THH were prepared and their [...]

Published
2004

124. Cutaneous involvement in chronic lymphocytic leukaemia.

Author

Iyengar, L., Fong, C. Y., Prakash, S., and Chong, A. H.

Subjects
*LYMPHOCYTIC leukemia, *CHRONIC leukemia, *CANCER chemotherapy, *SKIN diseases, *B cells, *BONE marrow
Abstract

This article discusses a case of cutaneous involvement in chronic lymphocytic leukemia (CLL). The patient, a 65-year-old female, presented with erythematous plaques and nodules on her face and extremities. Biopsies confirmed the presence of B-cell CLL/SLL in the skin, and further tests revealed infiltration of monoclonal B cells in the bone marrow. The patient was initially treated with systemic chemotherapy and achieved remission, but later experienced a recurrence of CLL exclusively in the skin. Salvage-targeted therapy with venetoclax and rituximab successfully resolved the cutaneous disease. The article also provides an overview of leukaemia cutis, its histological characteristics, and the lack of consensus on treatment. [Extracted from the article]

Published
2024
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139. Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Author

Sreenath Nagamani, S C, Zhang, F, Shchelochkov, O A, Bi, W, Ou, Z, Scaglia, F, Probst, F J, Shinawi, M, Eng, C, Hunter, J V, Sparagana, S, Lagoe, E, Fong, C-T, Pearson, M, Doco-Fenzy, M, Landais, E, Mozelle, M, Chinault, A C, Patel, A, Bacino, C A, Sahoo, T, Kang, S H, Cheung, S W, Lupski, J R, and Stankiewicz, P

Published
2009
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142. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Author

Nagamani, S.C. Sreenath, Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., Sparagana, S., Lagoe, E., Fong, C.-T., Pearson, M., Doco-Fenzy, M., Landais, E., Mozelle, M., Chinault, A.C., Patel, A., Bacino, C.A., Sahoo, T., Kang, S.H., Cheung, S.W., Lupski, J.R., and Stankiewicz, P.

Subjects
Miller-Dieker syndrome -- Research, Miller-Dieker syndrome -- Genetic aspects, Chromosomes -- Research, Cognition disorders -- Research, Cognition disorders -- Genetic aspects, Health
Published
2009

144. The magnetic structure and electrodynamics of the emerging solar wind

Author

Bale, S. D., Badman, S. T., Bonnell, J. W., Bowen, T. A., Burgess, D., Case, A. W., Cattell, C. A., Chandran, B. D. G., Chaston, C. C., Chen, C. H. K., Drake, J. F., Dudok de Wit, Thierry, Eastwood, J. P., Webster, J., Farrell, W. M., Fong, C., Goetz, K., Goldstein, M. L., Goodrich, K., Harvey, P., Horbury, T. S., Howes, G. G., Kasper, J. C., Kellogg, P. J., Klimchuk, J. A., Korreck, K. E., Krasnoselskikh, V., Krucker, S., Laker, R., Larson, D. E., Macdowall, R. J., Maksimovic, M., Malaspina, D., Martinez Oliveros, J. C., Mccomas, D. J., Meyer-Vernet, N., Moncuquet, M., Mozer, F., Phan, T., Pulupa, M., Raouafi, N. E., Salem, C. S., Stansby, D., Stevens, M. L., Szabo, A., Velli, M., Woolley, T., Wygant, J. R., and POTHIER, Nathalie

Subjects
ASTROPHYSICS, [SDU] Sciences of the Universe [physics], Wave/particle interactions, SPACE PLASMA PHYSICS, Particle acceleration, Coronal mass ejections, Corona, ASTRONOMY, SOLAR PHYSICS
Abstract

Convection and rotation drive the solar dynamo and, ultimately, provide the mechanical energy flux required to heat the solar corona and accelerate the solar wind. However, the way in which energy is then dissipated to heat the corona and wind are not well understood. Some energization models invoke non-thermal energy flux imparted by plasma Alfvén waves, while others rely on a carpet of small nano-flares as energy input, however these models have been unconstrained by direct measurements of the solar wind near its origin. Here we use in situ measurements from the FIELDS instrument suite during the first solar encounter (E1) at 35.7 solar radii (Rs) of the NASA Parker Solar Probe (PSP) mission to reveal the magnetic structure and kinetics of slow Alfvénic solar wind emerging from a small, equatorial coronal hole. Our measurements show that, at solar minimum, the slow wind can escape from above the low-lying, complex magnetic structures of the equatorial streamer belt, carrying a magnetic field that is highly dynamic, exhibiting polarity reversals on timescales from seconds to hours. These rapidly oscillating field structures are associated with clustered radial jets of plasma in which the energy flux is dramatically enhanced and turbulence levels are higher. Time intervals between groups of jets indicate a solar wind that is steady with a mostly radial magnetic field and relatively low levels of Alfvénic turbulent fluctuations. This 'quiet' wind however shows clear signatures of plasma micro-instabilities associated with ion and electron beams and velocity-space structure.

Published
2019

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