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5. Definitions of adverse events associated with extracorporeal membrane oxygenation in children: results of an international Delphi process from the ECMO-CENTRAL ARC

Author

Alexander, Peta M A, Di Nardo, Matteo, Combes, Alain, Vogel, Adam M, Antonini, Marta Velia, Barrett, Nicholas, Benedetti, Giulia M, Bettencourt, Amanda, Brodie, Daniel, Gómez-Gutiérrez, René, Gorga, Stephen M, Hodgson, Carol, Kapoor, Poonam Malhotra, Le, Jennifer, MacLaren, Graeme, O’Neil, Erika R, Ostermann, Marlies, Paden, Matthew L, Patel, Neil, Rojas-Peña, Alvaro, Said, Ahmed S, Sperotto, Francesca, Willems, Ariane, Vercaemst, Leen, Yoganathan, Ajit P, Lorts, Angela, del Nido, Pedro J, Barbaro, Ryan P, Abecasis, Francisco, Al Foudri, Huda, Anders, Marc M., Angus, Derek C., Annich, Gail M., Arachchillage, Deepa J., Akcan-Arikan, Ayse, Armstrong, Aimee K., Balcells, Joan, Barrett, Meredith, Bartlett, Robert H., Belda-Hofheinz, Sylvia, Bembea, Melania M., Best, Derek J., Bonadonna, Desiree, Boonstra, Philip S., Brogan, Thomas V, Brown, Katherine L, Butragueño-Laiseca, Laura, Butt, Warwick W., Camporota, Luigi, Cardenas, Barbara, Cascarano, Maria T., Caspi, Joseph, Chen, Eric, Chiletti, Roberto, Colombo, Giovanna G., Conte, Marisa L., Crowe, Liz, Cvetkovic, Mirjana, Dalton, Heidi J., Daverio, Marco, Davidson, Mark G., Davis, Carl, DiGeronimo, Robert J., Egbunine, Ariel, Ellis, W. Cory, Fan, Eddy, Foster, Claire C, Fraser, John F., Friedman, Matthew L., Furlong-Dillard, Jamie, Fynn-Thompson, Francis, Garcia, Alejandro V., Geppert, Jeffery, Gillette, Nicole, Grazioli, Lorenzo, Greene, Christina L, Guerguerian, Anne-Marie, Guilliams, Kristin P., Haji Fortis, Jumana Y., Hao, Jianming, Heinsar, Silver, Hejduk, Mark W., Himebauch, Adam S., Horvat, Christopher M., Hoskote, Aparna, Hou, Xiaotong, Hyslop, Robert W., Ibrahim, Nicole, Ito, Takuya, Karagiannidis, Christian, Karam, Oliver, Kaushik, Shubhi, Kilbaugh, Todd J., Kim-Campbell, Nahmah, Kirsch, Roxanne E, Kormos, Robert L., Kornberger, Angela, Krucoff, Mitchell W., Lakshminrusimha, Satyan, LaRovere, Kerri L, Leger, Pierre-Louis, Levy, Philip T., Lorusso, Roberto, Lyster, Haifa, Malone, Matthew P., McMullan, D. Michael, Mečířová, Soña, Mehran, Roxana, Merz, Scott I., Mochizuki, Shuichi, Moler, Frank W., Molla, Kalkidan, Monagle, Paul, Morgan, Gareth J., Morgan, Catherine, Morice, Marie-Claude, Muszynski, Jennifer A., Najaf, Tasnim A., Nellis, Marianne E., Newburger, Jane W., O'Rourke, P. Pearl, Ostadal, Petr, Ozment, Caroline P., Pagani, Francis D., Peek, Giles J., Polito, Angelo, Priest, John R., Raman, Lakshmi, Rintoul, Natalie E., Roy, Nathalie, Rubin, Juli, Rumford, Martha, Rycus, Peter, Ryerson, Lindsay M., Sakamoto, Wakako, Segura-Matute, Susana, Shekar, Kiran, Spinella, Philip C., Spitzer, Ernest, Starr, Joanne P., Stead, Christine, Steffen, Katherine, Steiner, Marie E., Tan, Lucy, Tasker, Robert C., Taylor, J. Michael, Thiagarajan, Ravi R., Tonna, Joseph E., Ubertini, Gina M., van Leeuwen, Grace, Vang, Eric, Ventetuolo, Corey E., Venugopal, Prem S., Weinberg, Allison, Westrope, Claire, Wu, Changfu, Wylie, Gillian, Zeymer, Uwe, Zivick, Elizabeth E., and Zochios, Vasileios

Abstract

Extracorporeal membrane oxygenation (ECMO) is a high-risk and low-volume life support with increasing clinical study. However, heterogenous outcome definitions impede data assimilation into evidence to guide practice. The Academic Research Consortium (ARC), an international collaborative forum committed to facilitating the creation of stakeholder-driven consensus nomenclature and outcomes for clinical trials of medical devices, supported the ECMO Core Elements Needed for Trials Regulation And quality of Life (ECMO-CENTRAL) ARC. The ECMO-CENTRAL ARC was assembled to develop definitions of paediatric ECMO adverse events for use in clinical trials and regulatory device evaluation. An initial candidate list of ECMO adverse events derived from the mechanical circulatory support ARC was supplemented with a review of ECMO-relevant adverse event definitions collated from literature published between Jan 1, 1988, and Feb 20, 2023. Distinct teams of international topic experts drafted separate adverse event definitions that were harmonised to existing literature when appropriate. Draft definitions were revised for paediatric ECMO relevance with input from patients, families, and an international expert panel of trialists, clinicians, statisticians, biomedical engineers, device developers, and regulatory agencies. ECMO-CENTRAL ARC was revised and disseminated across research societies and professional organisations. Up to three rounds of internet-based anonymous surveys were planned as a modified Delphi process. The expert panel defined 13 adverse event definitions: neurological, bleeding, device malfunction, acute kidney injury, haemolysis, infection, vascular access-associated injury, non-CNS thrombosis, hepatic dysfunction, right heart failure, left ventricular overload, lactic acidaemia, and hypoxaemia. Definitional structure varied. Among 165 expert panel members, 114 were eligible to vote and 111 voted. Consensus was achieved for all proposed definitions. Agreement ranged from 82% to 95%. ECMO-CENTRAL ARC paired rigorous development with methodical stakeholder involvement and dissemination to define paediatric ECMO adverse events. These definitions will facilitate new research and the assimilation of data across clinical trials and ECMO device evaluation in children.

Published
2024
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6. Molecular characterization of DICER1-mutated pituitary blastoma

Author

Nadaf, Javad, de Kock, Leanne, Chong, Anne-Sophie, Korbonits, Márta, Thorner, Paul, Benlimame, Naciba, Fu, Lili, Peet, Andrew, Warner, Justin, Ploner, Oswald, Shuangshoti, Shanop, Albrecht, Steffen, Hamel, Nancy, Priest, John R., Rivera, Barbara, Ragoussis, Jiannis, and Foulkes, William D.

Published
2021
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13. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Author

de Kock, Leanne, Wang, Yu Chang, Revil, Timothée, Badescu, Dunarel, Rivera, Barbara, Sabbaghian, Nelly, Wu, Mona, Weber, Evan, Sandoval, Claudio, Hopman, Saskia M J, Merks, Johannes H M, van Hagen, Johanna M, Bouts, Antonia H M, Plager, David A, Ramasubramanian, Aparna, Forsmark, Linus, Doyle, Kristine L, Toler, Tonja, Callahan, Janine, Engelenberg, Charlotte, Bouron-Dal Soglio, Dorothée, Priest, John R, Ragoussis, Jiannis, and Foulkes, William D

Published
2016
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19. Contributors

Author

Ari, Arzu, Baker, Christopher, Brown, Mark Allen, Bultmann, Charlene R., Chisholm, Christian A., Cusano, Michael, DeBoer, Emily M., Elliott, Megan R., Fink, James B., Fleming, Mark A., II, Froh, Deborah K., Gonzalez, Leslie M., Grabski, David F., Hinds, Daniel M., Hook, Marcus, Hynes, Katrina M., Kapral, Nicole, Kaufman, David A., Kheir, John, Khodak, Igor, Koroulakis, Dionysios, Levin, Daniel, McGahren, Eugene, Moneme, Chioma, Mottram, Carl D., Moynihan, Katie M., Lee O’Brien, Michael, Priest, John R., Pryhuber, Gloria S., Rettig, Jordan S., Rieck, Rebecca E., Sinkin, Robert A., Stein, Mary Lyn, Walsh, Brian K., Watters, Karen, Yang, Youyang, Lee Yu, Pearl, and Zanelli, Santina A.

Published
2023
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20. Clinical Outcomes and Complications of Pituitary Blastoma

Author

Liu, Anthony P Y, primary, Kelsey, Megan M, additional, Sabbaghian, Nelly, additional, Park, Sung-Hye, additional, Deal, Cheri L, additional, Esbenshade, Adam J, additional, Ploner, Oswald, additional, Peet, Andrew, additional, Traunecker, Heidi, additional, Ahmed, Yomna H E, additional, Zacharin, Margaret, additional, Tiulpakov, Anatoly, additional, Lapshina, Anastasia M, additional, Walter, Andrew W, additional, Dutta, Pinaki, additional, Rai, Ashutosh, additional, Korbonits, Márta, additional, de Kock, Leanne, additional, Nichols, Kim E, additional, Foulkes, William D, additional, and Priest, John R, additional

Published
2020
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22. Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

Author

Apellaniz-Ruiz, Maria, primary, Segni, Maria, additional, Kettwig, Matthias, additional, Glüer, Sylvia, additional, Pelletier, Dylan, additional, Nguyen, Van-Hung, additional, Wagener, Rabea, additional, López, Cristina, additional, Muchantef, Karl, additional, Bouron-Dal Soglio, Dorothée, additional, Sabbaghian, Nelly, additional, Wu, Mona K., additional, Zannella, Stefano, additional, Fabian, Marc R., additional, Siebert, Reiner, additional, Menke, Jan, additional, Priest, John R., additional, and Foulkes, William D., additional

Published
2019
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25. DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1‐associated sarcoma.

Author

Apellaniz‐Ruiz, Maria, Cullinan, Noelle, Grant, Ronald, Marrano, Paula, Priest, John R, Thorner, Paul S, Goudie, Catherine, and Foulkes, William D

Subjects
SARCOMA, GENETIC disorders, FAMILY history (Medicine), SOMATIC mutation, APPENDIX (Anatomy)
Abstract

Individuals with DICER1 syndrome, a genetic disorder caused by pathogenic germline variants in DICER1, are at increased risk of developing a wide array of predominantly childhood onset conditions, including genitourinary sarcomas. However, data on DICER1 involvement in paratesticular sarcomas have not been published. Herein, we analyse a series of 15 paediatric paratesticular sarcomas and describe in detail the case of a male infant with a paratesticular myxoid tumour, considered to be a low‐grade sarcoma, who also manifested a cystic nephroma, a classic DICER1 syndrome phenotype. He harboured a pathogenic germline DICER1 variant and different somatic hot‐spot mutations in each tumour. The paratesticular tumour showed strong and diffuse expression for WT1 and CD10, an unusual immunophenotype in paediatric sarcomas, but typical of tumours of Müllerian origin. The tumour was postulated to arise from the appendix testis, a Müllerian remnant located in the paratestis. Such an origin would be analogous to other DICER1‐associated non‐epithelial gynaecological tumours, thought to arise from Müllerian derivatives. These findings point towards a key role of DICER1 in Müllerian‐derived structures. Supporting this hypothesis is the fact that the other paratesticular sarcomas from the series were either negative or focally positive for WT1 and for CD10, and none had any DICER1 mutations. In summary, we present the first case of a paratesticular sarcoma associated with DICER1 syndrome, emphasising that paratesticular tumours with an unusual histological appearance may suggest an underlying DICER1 mutation, especially in the presence of a personal or family history of DICER1‐associated disease. In this context, DICER1 mutation testing could lead to changes in clinical care including implementation of cancer care surveillance strategies. [ABSTRACT FROM AUTHOR]

Published
2020
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26. DICER1 gene mutations in endocrine tumors

Author

Solarski, Michael, primary, Rotondo, Fabio, additional, Foulkes, William D, additional, Priest, John R, additional, Syro, Luis V, additional, Butz, Henriett, additional, Cusimano, Michael D, additional, and Kovacs, Kalman, additional

Published
2018
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27. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

Author

de Kock, Leanne, primary, Geoffrion, Dominique, additional, Rivera, Barbara, additional, Wagener, Rabea, additional, Sabbaghian, Nelly, additional, Bens, Susanne, additional, Ellezam, Benjamin, additional, Bouron-Dal Soglio, Dorothée, additional, Ordóñez, Jessica, additional, Sacharow, Stephanie, additional, Polo Nieto, Jose Fernando, additional, Guillerman, R. Paul, additional, Vujanic, Gordan M., additional, Priest, John R., additional, Siebert, Reiner, additional, and Foulkes, William D., additional

Published
2018
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28. Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

Author

de Kock, Leanne, Rivera, Barbara, Revil, Timothée, Thorner, Paul, Goudie, Catherine, Bouron-Dal Soglio, Dorothée, Choong, Catherine S., Priest, John R., Van Diest, Paul J., Tanboon, Jantima, Wagner, Anja, Ragoussis, Jiannis, Choong, Peter F.M., Foulkes, William D, de Kock, Leanne, Rivera, Barbara, Revil, Timothée, Thorner, Paul, Goudie, Catherine, Bouron-Dal Soglio, Dorothée, Choong, Catherine S., Priest, John R., Van Diest, Paul J., Tanboon, Jantima, Wagner, Anja, Ragoussis, Jiannis, Choong, Peter F.M., and Foulkes, William D

Published
2017

29. Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

Author

Pathologie patiënten zorg, UMC Utrecht, Cancer, de Kock, Leanne, Rivera, Barbara, Revil, Timothée, Thorner, Paul, Goudie, Catherine, Bouron-Dal Soglio, Dorothée, Choong, Catherine S., Priest, John R., Van Diest, Paul J., Tanboon, Jantima, Wagner, Anja, Ragoussis, Jiannis, Choong, Peter F.M., Foulkes, William D, Pathologie patiënten zorg, UMC Utrecht, Cancer, de Kock, Leanne, Rivera, Barbara, Revil, Timothée, Thorner, Paul, Goudie, Catherine, Bouron-Dal Soglio, Dorothée, Choong, Catherine S., Priest, John R., Van Diest, Paul J., Tanboon, Jantima, Wagner, Anja, Ragoussis, Jiannis, Choong, Peter F.M., and Foulkes, William D

Published
2017

30. Clinical Outcomes and Complications of Pituitary Blastoma

Author

Liu, Anthony P Y, Kelsey, Megan M, Sabbaghian, Nelly, Park, Sung-Hye, Deal, Cheri L, Esbenshade, Adam J, Ploner, Oswald, Peet, Andrew, Traunecker, Heidi, Ahmed, Yomna H E, Zacharin, Margaret, Tiulpakov, Anatoly, Lapshina, Anastasia M, Walter, Andrew W, Dutta, Pinaki, Rai, Ashutosh, Korbonits, Márta, de Kock, Leanne, Nichols, Kim E, Foulkes, William D, and Priest, John R

Published
2021
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31. Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

Author

de Kock, Leanne, primary, Rivera, Barbara, additional, Revil, Timothée, additional, Thorner, Paul, additional, Goudie, Catherine, additional, Bouron-Dal Soglio, Dorothée, additional, Choong, Catherine S, additional, Priest, John R, additional, van Diest, Paul J, additional, Tanboon, Jantima, additional, Wagner, Anja, additional, Ragoussis, Jiannis, additional, Choong, Peter FM, additional, and Foulkes, William D, additional

Published
2017
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32. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Author

Genetica Klinische Genetica, Child Health, de Kock, Leanne, Wang, Yu Chang, Revil, Timothée, Badescu, Dunarel, Rivera, Barbara, Sabbaghian, Nelly, Wu, Mona, Weber, Evan, Sandoval, Claudio, Hopman, Saskia M J, Merks, Johannes H M, van Hagen, Johanna M., Bouts, Antonia H M, Plager, David A., Ramasubramanian, Aparna, Forsmark, Linus, Doyle, Kristine L., Toler, Tonja, Callahan, Janine, Engelenberg, Charlotte, Soglio, Dorothée Bouron Dal, Priest, John R., Ragoussis, Jiannis, Foulkes, William D., Genetica Klinische Genetica, Child Health, de Kock, Leanne, Wang, Yu Chang, Revil, Timothée, Badescu, Dunarel, Rivera, Barbara, Sabbaghian, Nelly, Wu, Mona, Weber, Evan, Sandoval, Claudio, Hopman, Saskia M J, Merks, Johannes H M, van Hagen, Johanna M., Bouts, Antonia H M, Plager, David A., Ramasubramanian, Aparna, Forsmark, Linus, Doyle, Kristine L., Toler, Tonja, Callahan, Janine, Engelenberg, Charlotte, Soglio, Dorothée Bouron Dal, Priest, John R., Ragoussis, Jiannis, and Foulkes, William D.

Published
2016

35. Somatic DICER1 mutations in adult-onset pulmonary blastoma

Author

de Kock, Leanne, primary, Bah, Ismaël, additional, Brunet, Joan, additional, Druker, Harriet, additional, Astigarraga, Itziar, additional, Bosch-Barrera, Joaquim, additional, Soglio, Dorothée Bouron-Dal, additional, Nguyen, Van-Hung, additional, Malkin, David, additional, Priest, John R., additional, and Foulkes, William D., additional

Published
2016
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36. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Author

de Kock, Leanne, primary, Wang, Yu Chang, additional, Revil, Timothée, additional, Badescu, Dunarel, additional, Rivera, Barbara, additional, Sabbaghian, Nelly, additional, Wu, Mona, additional, Weber, Evan, additional, Sandoval, Claudio, additional, Hopman, Saskia M J, additional, Merks, Johannes H M, additional, van Hagen, Johanna M, additional, Bouts, Antonia H M, additional, Plager, David A, additional, Ramasubramanian, Aparna, additional, Forsmark, Linus, additional, Doyle, Kristine L, additional, Toler, Tonja, additional, Callahan, Janine, additional, Engelenberg, Charlotte, additional, Bouron-Dal Soglio, Dorothée, additional, Priest, John R, additional, Ragoussis, Jiannis, additional, and Foulkes, William D, additional

Published
2015
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37. Abstract 4934: Mosaic RNase IIIb domainDICER1mutations in children with multiple primary tumors

Author

de Kock, Leanne, primary, Rivera Polo, Barbara, additional, Wu, Mona, additional, Weber, Evan, additional, Sandoval, Claudio, additional, Hopman, Saskia M. J., additional, Merks, J. Hans M., additional, van Hagen, Annet, additional, Plager, D. A., additional, Sabbaghian, Nelly, additional, Hamel, Nancy, additional, Bouron-Dal Soglio, Dorothée, additional, Priest, John R., additional, and Foulkes, William D., additional

Published
2015
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42. Early Experiences Designing a Scalable COVID-19 Reusable Elastomeric Respirator

Author

Slatnick, Brianna L., Yu, Lumeng J., Yang, Alexander, Wu, Kyle C., Crum, Robert W., Betit, Peter, Brown, Mark, Pires, Chad, Priest, John R., Staffa, Steven J., Weldon, Christopher, Fishman, Steven J., Kim, Heung Bae, and Demehri, Farokh R.

Abstract

The COVID-19 pandemic created an unprecedented shortage of personal protective equipment (PPE) for healthcare workers—especially respirators. In response to a lack of commercial respirator equipment, a multidisciplinary prototyping hackathon was held and the key components required to develop an inexpensive, scalable “COVID-19 reusable elastomeric respirator” (RER-19) were identified. Available hospital supplies were assessed based on their published technical specifications to meet each of the key component requirements. The fully assembled prototype was then validated through user testing, and volunteers underwent standard fit testing with cardiopulmonary monitoring while wearing the RER-19 in a small pilot study. Multiple social media platforms were then used to disseminate educational information on respirator assembly, use, and maintenance. Here, we present our institution's initial experience with prototyping to meet a specific healthcare challenge, in combination with prompt dissemination of information to educate and empower healthcare workers in the face of a critical PPE shortage during an unprecedented and evolving pandemic.

Published
2022
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43. Germline and Somatic DICER1Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung

Author

de Kock, Leanne, Bah, Ismaël, Wu, Yingchen, Xie, Meiqing, Priest, John R., and Foulkes, William D.

Abstract

Germ-line DICER1mutations predispose to a distinctive tumour predisposition syndrome, the DICER1 syndrome, which is associated with a spectrum of rare mainly childhood-onset tumours. In 2014, a case of well-differentiated fetal adenocarcinoma of the lung (WDFA) was reported in a 16-year-old germ-line DICER1mutation carrier. Here we report our finding of a characteristic somatic DICER1RNase IIIb c.5127T>A (p.Asp1709Glu) missense mutation within the WDFA, confirmed using laser capture microscopy. The child has a personal history consistent with the DICER1 syndrome: she developed a multinodular goitre at age 14 years and an ovarian Sertoli-Leydig cell tumour at age 16 years, each of which were found to harbour a somatic DICER1RNase IIIb missense mutation. The identification of two DICER1“hits” in the WDFA strongly suggests that WDFA is a rare, previously-unrecognised manifestation of DICER1 syndrome.

Published
2016
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44. The Influence of the Extracorporeal Membrane Oxygenation Circuit and Components on Anticoagulation Management: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation CollaborativE Consensus Conference.

Author

Himebauch AS, Priest JR, Annich GM, McMullan DM, Turner DA, Muszynski JA, Alexander PMA, Paden ML, Gehred A, Lyman E, and Said AS

Subjects
Humans, Child, Consensus, Extracorporeal Membrane Oxygenation methods, Anticoagulants administration & dosage, Anticoagulants therapeutic use, Delphi Technique
Abstract

Objectives: To derive systematic-review informed, modified Delphi consensus regarding the influence of extracorporeal membrane oxygenation (ECMO) circuit components on anticoagulation practices for pediatric ECMO for the Pediatric ECMO Anticoagulation CollaborativE., Data Sources: A structured literature search was performed using PubMed, EMBASE, and Cochrane Library (CENTRAL) databases from January 1988 to May 2021., Study Selection: Management of ECMO anticoagulation in the setting of different ECMO circuit components., Data Extraction: Two authors reviewed all citations independently, with a third independent reviewer resolving conflicts. Twenty-nine references were used for data extraction and informed recommendations, evidence-based consensus statements, and good practice statements. Evidence tables were constructed using a standardized data extraction form., Data Synthesis: Risk of bias was assessed using the Quality in Prognosis Studies tool. The evidence was evaluated using the Grading of Recommendations Assessment, Development and Evaluation system. Forty-eight experts met over 2 years to develop evidence-based recommendations and, when evidence was lacking, expert-based consensus statements or good practice statements for the influence of ECMO circuit and components on anticoagulation management. A web-based modified Delphi process was used to build consensus via the Research And Development/University of California Appropriateness Method. Consensus was defined as greater than 80% agreement. One good practice statement, 2 weak recommendations, and 2 consensus statements are presented., Conclusions: The incorporation of new component technologies into clinical practice has outpaced clinical investigations of anticoagulation strategies for pediatric ECMO. Future investigations should leverage academic and industrial collaborations, translational platforms, and modern biostatistical methods to improve patient outcomes., Competing Interests: Dr. Himebauch receives support from the National Heart, Lung, and Blood Institute of the National Institutes of Health (NIH) under award number K23HL153759. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Dr. Said acknowledges research support from the Children’s Discovery Institute Faculty Development Award at Washington University in St. Louis. Dr. Turner is used by the American Board of Pediatrics, and the content of this article is solely the responsibility of the authors and does not necessarily represent the official views of the American Board of Pediatrics. Drs. Muszynski, and Alexander received support for article research from the NIH. Dr. Alexander’s institution received funding from the National Institute of Child Health and Human Development (1R13HD104432), Extracorporeal Life Support Organization (ELSO), and Novartis. Dr. Paden received funding from ELSO, he disclosed that he is past president and board member of ELSO, and he disclosed the off-label product use of extracorporeal membrane oxygenation. The remaining authors have disclosed that they do not have any potential conflicts of interest., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.)

Published
2024
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45. Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.

Author

de Kock L, Hillmer M, Wagener R, Soglio DB, Sabbaghian N, Siebert R, Priest JR, Miller M, and Foulkes WD

Subjects
Adolescent, Alleles, Chromosomes, Human, Pair 14, Comparative Genomic Hybridization, Female, Germ-Line Mutation, Heterozygote, Humans, Magnetic Resonance Imaging, Pedigree, Phenotype, DEAD-box RNA Helicases genetics, Gene Deletion, Neoplastic Syndromes, Hereditary diagnosis, Neoplastic Syndromes, Hereditary genetics, Ribonuclease III genetics
Published
2019
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46. Radiographic screening of infants and young children with genetic predisposition for rare malignancies: DICER1 mutations and pleuropulmonary blastoma.

Author

Sabapathy DG, Guillerman RP, Orth RC, Zhang W, Messinger Y, Foulkes W, Priest JR, and Annapragada AV

Subjects
Child, Preschool, Decision Support Techniques, Female, Humans, Infant, Life Expectancy, Lung Neoplasms mortality, Male, Mutation, Neoplasms, Radiation-Induced etiology, Pulmonary Blastoma mortality, Radiation Dosage, Risk, Sensitivity and Specificity, DEAD-box RNA Helicases genetics, Genetic Predisposition to Disease, Lung Neoplasms diagnostic imaging, Lung Neoplasms genetics, Pulmonary Blastoma diagnostic imaging, Pulmonary Blastoma genetics, Radiography, Thoracic, Ribonuclease III genetics, Tomography, X-Ray Computed
Abstract

Objective: The purpose of this study was to compare the risks of radiation in screening strategies using chest radiographs and CT to detect a rare cancer in a genetically predisposed population against the risks of undetected disease., Materials and Methods: A decision analytic model of diagnostic imaging screening strategies was built to predict outcomes and cumulative radiation doses for children with DICER1 mutations screened for pleuropulmonary blastoma. Screening strategies compared were chest radiographs followed by chest CT for a positive radiographic result and CT alone. Screening frequencies ranged from once in 3 years to once every 3 months. BEIR VII (model VII proposed by the Committee on the Biological Effects of Ionizing Radiation) risk tables were used to predict excess cancer mortality for each strategy, and the corresponding loss of life expectancy was calculated using Surveillance Epidemiologic and End Results (SEER) statistics. Loss of life expectancy owing to undetected progressive pleuropulmonary blastoma was estimated on the basis of data from the International Pleuropulmonary Blastoma Registry. Sensitivity analysis was performed for all model parameters., Results: Loss of life expectancy owing to undetected disease in an unscreened population exceeded that owing to radiation-induced cancer for all screening scenarios investigated. Increases in imaging frequency decreased loss of life expectancy for the combined (chest radiographs and CT) screening strategy but increased that for the CT-only strategy. This was because loss of life expectancy for combined screening is dominated by undetected disease, whereas loss of life expectancy for CT screening is dominated by radiation-induced cancers., Conclusion: Even for a rare disease such as pleuropulmonary blastoma, radiographic screening of infants and young children with cancer-predisposing mutations may result in improved life expectancy compared with the unscreened population. The benefit of screening will be greater for diseases with a higher screening yield.

Published
2015
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