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1. PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants

Author

Wenche Sjursen, Hanne K. Hyldebrandt, Liss Anne S. Lavik, Bjørn Ivar Haukanes, Sarah Ariansen, Siri Briskemyr, Anna E. Sylvander, Marianne T. Haavind, Maren F. Olsen, Elin S. Røyset, Hildegunn Vetti, Astrid Stormorken, and Eli Marie Grindedal

Subjects
Lync syndrome, PMS2, Cancer risk, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Abstract

Abstract Background In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and penetrance of cancers in carriers of class 4/5 variants. Methods All detected PMS2 variants were collected from the diagnostic laboratories and reclassified according to ACMG criteria and gene specific guidelines. Data on variant, gender, cancer diagnosis, age at diagnosis, and age at last known follow-up was collected on all carriers of class 4/5 variants from electronic patient records. The Kaplan-Meier algorithm was used to calculate cumulative risk of any cancer, colorectal cancer and endometrial cancer. Results In total, 220 different PMS2 variants were detected. Twenty nine class 4/5 variants were identified in 482 carriers. The most common pathogenic variant was the founder mutation c.989-1G > T, detected in 204 patients from 58 families. Eighty seven out of 482 (18.0%) had been diagnosed with colorectal cancer, 10 of these (11.8%) before 40 years. Cumulative risk at 70 years in our cohort was 34.7% for colorectal cancer and 26.1% for endometrial cancer. Conclusions After 15 years of genetic testing, 29 different class 4/5 variants have been detected in Norway. Almost half of Norwegian PMS2 carriers have the founder variant 989-1G > T. Penetrance of colorectal cancer in our cohort was moderate but variable, as 11.5% of those diagnosed were younger than 40 years.

Published
2024
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2. PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants

Author

Sjursen, Wenche, Hyldebrandt, Hanne K., Lavik, Liss Anne S., Haukanes, Bjarn Ivar, Ariansen, Sarah, Briskemyr, Siri, Sylvander, Anna E., Haavind, Marianne T., Olsen, Maren F., Rayset, Elin S., Vetti, Hildegunn, Stormorken, Astrid, and Grindedal, Eli Marie

Subjects
Diseases, Genetic aspects, Risk factors, Algorithm, Genetic testing -- Genetic aspects, Cancer diagnosis, Algorithms, Laboratories, Medical records, Cancer -- Risk factors -- Genetic aspects, Endometrial cancer -- Genetic aspects -- Risk factors, Colorectal cancer -- Genetic aspects -- Risk factors, EDTA, Cancer -- Diagnosis -- Risk factors -- Genetic aspects, Ethylenediaminetetraacetic acid, Genetic screening -- Genetic aspects
Abstract

Author(s): Wenche Sjursen[sup.1,2], Hanne K. Hyldebrandt[sup.3,4], Liss Anne S. Lavik[sup.1], Bjarn Ivar Haukanes[sup.5], Sarah Ariansen[sup.3], Siri Briskemyr[sup.6], Anna E. Sylvander[sup.1], Marianne T. Haavind[sup.5], Maren F. Olsen[sup.1], Elin S. Rayset[sup.7], Hildegunn [...], Background In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and penetrance of cancers in carriers of class 4/5 variants. Methods All detected PMS2 variants were collected from the diagnostic laboratories and reclassified according to ACMG criteria and gene specific guidelines. Data on variant, gender, cancer diagnosis, age at diagnosis, and age at last known follow-up was collected on all carriers of class 4/5 variants from electronic patient records. The Kaplan-Meier algorithm was used to calculate cumulative risk of any cancer, colorectal cancer and endometrial cancer. Results In total, 220 different PMS2 variants were detected. Twenty nine class 4/5 variants were identified in 482 carriers. The most common pathogenic variant was the founder mutation c.989-1G > T, detected in 204 patients from 58 families. Eighty seven out of 482 (18.0%) had been diagnosed with colorectal cancer, 10 of these (11.8%) before 40 years. Cumulative risk at 70 years in our cohort was 34.7% for colorectal cancer and 26.1% for endometrial cancer. Conclusions After 15 years of genetic testing, 29 different class 4/5 variants have been detected in Norway. Almost half of Norwegian PMS2 carriers have the founder variant 989-1G > T. Penetrance of colorectal cancer in our cohort was moderate but variable, as 11.5% of those diagnosed were younger than 40 years. Keywords: Lync syndrome, PMS2, Cancer risk

Published
2024
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3. Mechanisms to expedite pediatric clinical trial site activation: The DOSE trial experience

Author

Boutzoukas, Angelique E., Olson, Rachel, Sellers, Mary Ann, Fischer, Gwenyth, Hornik, Chi D., Alibrahim, Omar, Iheagwara, Kelechi, Abulebda, Kamal, Bass, Andora L., Irby, Katherine, Subbaswamy, Anjali, Zivick, Elizabeth E., Sweney, Jill, Stormorken, Anne G., Barker, Erin E., Lutfi, Riad, McCrory, Michael C., Costello, John M., Ackerman, Kate G., Munoz Pareja, Jennifer C., Dean, J. Michael, Abdelsamad, Nael, Hanley, Daniel F., Jr, Mould, W. Andrew, Lane, Karen, Stroud, Mary, Feger, Bryan J., Greenberg, Rachel G., Smith, P. Brian, Benjamin, Daniel K., Jr, Hornik, Christoph P., Zimmerman, Kanecia O., and Becker, Mara L.

Published
2023
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4. AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

Author

Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, and Katrin Õunap

Subjects
AXIN2, cancer predisposition syndrome, cleft palate, oligodontia, Genetics, QH426-470
Abstract

Abstract Background Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. Methods Data were collected via a structured questionnaire. Sequencing was performed in these patients mostly due to diagnostic purpose. A little more than half of the AXIN2 variant carriers were identified by NGS; other six were family members. Results Here, we report 13 individuals with a heterozygous AXIN2 pathogenic/likely pathogenic variant who have a variable expression of oligodontia‐colorectal cancer syndrome (OMIM 608615) or oligodontia‐cancer predisposition syndrome (ORPHA 300576). Three individuals from one family also had cleft palate, which might represent a new clinical feature of AXIN2 phenotype, also given the fact that AXIN2 polymorphisms have been found in association with oral clefting in population studies. AXIN2 has already been added to multigene cancer panel tests; further research should be conducted to determine whether it should be added to cleft lip/palate multigene panels. Conclusion More clarity about oligodontia‐colorectal cancer syndrome, about the variable expression, and associated cancer risks is needed to improve clinical management and to establish guidelines for surveillance. We collected information about the surveillance that was advised, which might support clinical management of these patients.

Published
2023
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6. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Author

Adams, Lisa, Adlard, Julian, Alfonso, Rosa, Ali, Saira, Andrew, Angela, Araújo, Luís, Azam, Nazya, Ball, Darran, Barker, Queenstone, Basevitch, Alon, Benton, Barbara, Berlin, Cheryl, Bermingham, Nicola, Biller, Leah, Bloss, Angela, Bradford, Matilda, Bradshaw, Nicola, Branson, Amy, Brendler, Charles, Brennan, Maria, Bulman, Barbara, Burgess, Lucy, Cahill, Declan, Callard, Alice, Calvo Verges, Nuria, Cardoso, Marta, Carter, Vanda, Catanzaro, Mario, Chamberlain, Anthony, Chapman, Cyril, Chong, Michael, Clark, Caroline, Clowes, Virginia, Cogley, Lyn, Cole, Trevor, Compton, Cecilia, Conner, Tom, Cookson, Sandra, Cornford, Philip, Costello, Philandra, Coulier, Laura, Davies, Michaela, Dechet, Christopher, DeSouza, Bianca, Devlin, Gemma, Douglas, Fiona, Douglas, Emma, Dudakia, Darshna, Duncan, Alexis, Ellery, Natalie, Everest, Sarah, Freemantle, Sue, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Gale, Madeline, Garcia, Lynda, Gay, Simona, Genova, Elena, George, Angela, Georgiou, Demetra, Gisbert, Alexandra, Gleeson, Margaret, Glover, Wayne, Gnanapragasam, Vincent, Goff, Sally, Goldgar, David, Gonçalves, Nuno, Goodman, Selina, Gorrie, Jennifer, Gott, Hannah, Grant, Anna, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Gurasashvili, Jana, Hanslien, Eldbjørg, Haraldsdottir, Sigurdis, Hart, Rachel, Hartigan, Catherine, Hawkes, Lara, Heaton, Tricia, Henderson, Alex, Henrique, Rui, Hilario, Kathrine, Hill, Kathryn, Hulick, Peter, Hunt, Clare, Hutchings, Melanie, Ibitoye, Rita, Inglehearn, Thomas, Ireland, Joanna, Islam, Farah, Ismail, Siti, Jacobs, Chris, James, Denzil, Jenkins, Sharon, Jobson, Irene, Johnstone, Anne, Jones, Oliver, Josefsberg Ben-Yehoshua, Sagi, Kaemba, Beckie, Kaul, Karen, Kemp, Zoe, Kinsella, Netty, Klehm, Margaret, Kockelbergh, Roger, Kohut, Kelly, Kosicka-Slawinska, Monika, Kulkarni, Anjana, Kumar, Pardeep, Lam, Jimmy, LeButt, Mandy, Leibovici, Dan, Lim, Ramona, Limb, Lauren, Lomas, Claire, Longmuir, Mark, López, Consol, Magnani, Tiziana, Maia, Sofia, Maiden, Jessica, Male, Alison, Manalo, Merrie, Martin, Phoebe, McBride, Donna, McGuire, Michael, McMahon, Romayne, McNally, Claire, McVeigh, Terri, Melzer, Ehud, Mencias, Mark, Mercer, Catherine, Mitchell, Gillian, Mora, Josefina, Morton, Catherine, Moss, Cathryn, Murphy, Morgan, Murphy, Declan, Mzazi, Shumi, Nadolski, Maria, Newlin, Anna, Nogueira, Pedro, O'Keefe, Rachael, O'Toole, Karen, O'Connell, Shona, Ogden, Chris, Okoth, Linda, Oliveira, Jorge, Paez, Edgar, Palou, Joan, Park, Linda, Patel, Nafisa, Paulo Souto, João, Pearce, Allison, Peixoto, Ana, Perez, Kimberley, Petelin, Lara, Pichert, Gabriella, Poile, Charlotte, Potter, Alison, Preitner, Nadia, Purnell, Helen, Quinn, Ellen, Radice, Paolo, Rankin, Brigette, Rees, Katie, Renton, Caroline, Richardson, Kate, Risby, Peter, Rogers, Jason, Ruderman, Maggie, Ruiz, April, Sajoo, Anaar, Salvatore, Natale, Sands, Victoria, Sanguedolce, Francesco, Sattar, Ayisha, Saunders, Kathryn, Schofield, Lyn, Scott, Rodney, Searle, Anne, Sehra, Ravinder, Selkirk, Christina, Shackleton, Kylie, Shanley, Sue, Shaw, Adam, Shevrin, Daniel, Shipman, Hannah, Sidat, Zahirah, Siguake, Kas, Simon, Kate, Smyth, Courtney, Snadden, Lesley, Solanky, Nita, Solomons, Joyce, Sorrentino, Margherita, Stayner, Barbara, Stephenson, Robert, Stoffel, Elena, Thomas, Maggie, Thompson, Alan, Tidey, Lizzie, Tischkowitz, Marc, Torokwa, Audrey, Townshend, Sharron, Treherne, Katy, Tricker, Karen, Trinh, Quoc-Dien, Tripathi, Vishakha, Turnbull, Clare, Valdagni, Riccardo, Van As, Nicholas, Venne, Vickie, Verdon, Lizzie, Vitellaro, Marco, Vogel, Kristen, Walker, Lisa, Watford, Amy, Watt, Cathy, Weintroub, Ilana, Weiss, Shelly, Weissman, Scott, Weston, Michelle, Wiggins, Jennifer, Wise, Gillian, Woodhouse, Christopher, Yesildag, Pembe, Youngs, Alice, Yurgelun, Matthew, Zollo, Fabiana, Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Ramon y Cajal, Teresa, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Ni Raghallaigh, Holly, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, and Eeles, Rosalind A

Published
2021
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7. A review of key strategies to address the shortage of analgesics and sedatives in pediatric intensive care

Author

Roberta Esteves Vieira de Castro, Miguel Rodríguez-Rubio, Maria Clara de Magalhães-Barbosa, Arnaldo Prata-Barbosa, Jaimee Holbrook, Pradip Kamat, and Anne Stormorken

Subjects
pediatrics, COVID-19, sedation, analgesia, delirium, Pediatrics, RJ1-570
Abstract

ImportanceTargeted analgosedation is a challenge in critically ill children, and this challenge becomes even more significant with drug shortages.ObservationsPublished guidelines inform the provision of analgosedation in critically ill children. This review provides insights into general approaches using these guidelines during drug shortages in Pediatric Intensive Care Units as well as strategies to optimize both pharmacological and non-pharmacological approaches in these situations.Conclusions and relevanceConsidering that drug shortages are a recurrent worldwide problem, this review may guide managing these drugs in critically ill children in situations of scarcity, such as in pandemics or disasters.

Published
2022
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8. The impact of hysterectomy on subsequent colonoscopy in women with Lynch Syndrome.

Author

Hyldebrandt, Hanne Kjensli, Grindedal, Eli Marie, Huppertz-Hauss, Gert, Vitelli, Valeria, Johansen, Nora, and Stormorken, Astrid Tenden

Subjects
HEREDITARY nonpolyposis colorectal cancer, ABDOMINAL surgery, ENDOMETRIAL cancer, HYSTERECTOMY, COLORECTAL cancer
Abstract

Women with Lynch Syndrome (LS) have a high risk of colorectal and endometrial cancer. They are recommended regular colonoscopies, and some choose prophylactic hysterectomy. The aim of this study was to determine the impact of hysterectomy on subsequent colonoscopy in these women. A total of 219 LS women >30 years of age registered in the clinical registry at Section for Hereditary Cancer, Oslo University Hospital, were included. Data included hysterectomy status, other abdominal surgeries, and time of surgery. For colonoscopies, data were collected on cecal intubation rate, challenges, and level of pain. Observations in women with and without hysterectomy, and pre- and post-hysterectomy were compared. Cecal intubation rate was lower in women with hysterectomy than in those without (119/126 = 94.4% vs 88/88 = 100%, p = 0.025). Multivariate regression analysis showed an increased risk of challenging colonoscopies (OR,3.58; CI: 1.52–8.43; p = 0.003), and indicated a higher risk of painful colonoscopy (OR, 3.00; 95%CI: 0.99–17.44, p = 0.052), in women with hysterectomy compared with no hysterectomy. Comparing colonoscopy before and after hysterectomy, we also found higher rates of reported challenging colonoscopies post-hysterectomy (6/69 = 8.7% vs 23/69 = 33.3%, p < 0.001). Women with hysterectomy had a lower cecal intubation rate and a higher number of reported challenging colonoscopy than women with no hysterectomy. However, completion rate in the hysterectomy group was still as high as 94.4%. Thus, LS women who consider hysterectomy should not be advised against it. [ABSTRACT FROM AUTHOR]

Published
2024
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9. 2022 Society of Critical Care Medicine Clinical Practice Guidelines on Prevention and Management of Pain, Agitation, Neuromuscular Blockade, and Delirium in Critically Ill Pediatric Patients With Consideration of the ICU Environment and Early Mobility

Author

Smith, Heidi A. B., Besunder, James B., Betters, Kristina A., Johnson, Peter N., Srinivasan, Vijay, Stormorken, Anne, Farrington, Elizabeth, Golianu, Brenda, Godshall, Aaron J., Acinelli, Larkin, Almgren, Christina, Bailey, Christine H., Boyd, Jenny M., Cisco, Michael J., Damian, Mihaela, deAlmeida, Mary L., Fehr, James, Fenton, Kimberly E., Gilliland, Frances, Grant, Mary Jo C., Howell, Joy, Ruggles, Cassandra A., Simone, Shari, Su, Felice, Sullivan, Janice E., Tegtmeyer, Ken, Traube, Chani, Williams, Stacey, and Berkenbosch, John W.

Published
2022
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11. Dexmedetomidine Opioid Sparing Effect in Mechanically Ventilated Children (DOSE): Trial of Fentanyl versus Fentanyl + Dexmedetomidine for Maintenance of Sedation

Author

Becker, Mara L., additional, Fischer, Gwenyth, additional, Hornik, Chi D., additional, Alibrahim, Omar, additional, Iheagwara, Kelechi, additional, Abulebda, Kamal, additional, Bass, Andora L., additional, Irby, Katherine, additional, Subbaswamy, Anjali, additional, Zivick, Elizabeth E., additional, Sweney, Jill, additional, Stormorken, Anne G., additional, Barker, Erin E., additional, Mahadaveiah, Shruthi, additional, Lutfi, Riad, additional, McCrory, Michael C., additional, Costello, John M., additional, Ackerman, Kate G., additional, Munoz-Pareja, Jennifer C., additional, Feger, Bryan J., additional, Dean, J. Michael, additional, Hanley, Daniel F., additional, Greenberg, Rachel G., additional, Avadhani, Radhika, additional, Thompson, Richard E., additional, Benjamin, Daniel K., additional, Hornik, Christoph P., additional, and Zimmerman, Kanecia O., additional

Published
2023
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12. AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

Author

Roht, Laura, primary, Hyldebrandt, Hanne K., additional, Stormorken, Astrid T., additional, Nordgarden, Hilde, additional, Sijmons, Rolf H., additional, Bos, Dennis K., additional, Riegert‐Johnson, Douglas, additional, Mantia‐Macklin, Sarah, additional, Ilves, Pilvi, additional, Muru, Kai, additional, Wojcik, Monica H., additional, Kahre, Tiina, additional, and Õunap, Katrin, additional

Published
2023
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13. Dexmedetomidine Opioid Sparing Effect in Mechanically Ventilated Children (DOSE): Trial of Fentanyl versus Fentanyl + Dexmedetomidine for Maintenance of Sedation

Author

Mara L. Becker, Gwenyth Fischer, Chi D. Hornik, Omar Alibrahim, Kelechi Iheagwara, Kamal Abulebda, Andora L. Bass, Katherine Irby, Anjali Subbaswamy, Elizabeth E. Zivick, Jill Sweney, Anne G. Stormorken, Erin E. Barker, Shruthi Mahadaveiah, Riad Lutfi, Michael C. McCrory, John M. Costello, Kate G. Ackerman, Jennifer C. Munoz-Pareja, Bryan J. Feger, J. Michael Dean, Daniel F. Hanley, Rachel G. Greenberg, Radhika Avadhani, Richard E. Thompson, Daniel K. Benjamin, Christoph P. Hornik, and Kanecia O. Zimmerman

Subjects
Pediatrics, Perinatology and Child Health, Critical Care and Intensive Care Medicine
Abstract

Objectives This article observes the mean daily dose of fentanyl required for adequate sedation in critically ill, mechanically ventilated children randomized to receive dexmedetomidine or placebo. Methods We conducted Dexmedetomidine Opioid Sparing Effect in Mechanically Ventilated Children (DOSE), a multicenter, double-blind, randomized, placebo-controlled, dose-escalating trial. We enrolled children aged 35 weeks postmenstrual to 17 years (inclusive) admitted across 13 pediatric multidisciplinary and cardiac intensive care units. Adequate sedation was based on a State Behavioral Score and Richmond Agitation-Sedation Scale of –1 or lower. Only the first two dexmedetomidine dosing cohorts opened for enrollment, due to early trial closure during the coronavirus 2019 pandemic. Thirty children were randomized over 13 months and included in the analyses. Results Demographic and baseline characteristics were not different between dexmedetomidine and placebo cohorts. Similarly, mean daily fentanyl use was not different, using an unadjusted mixed regression model that considered treatment, time, and a treatment-by-time interaction. Adverse events and safety events of special interest were not different between cohorts. Conclusion The DOSE trial revealed that dexmedetomidine added to fentanyl does not impact safety and may not spare fentanyl use in critically ill children, although the trial did not meet its recruitment goals, due to early closure during the coronavirus 2019 pandemic. More rigorous inpatient pediatric trials like DOSE that study critically ill, mechanically ventilated children are needed. Despite the many obstacles faced, the DOSE trial presents challenges from which the greater research community can learn and use to optimize future therapeutic trials in children.

Published
2023

16. Acute Neuro-Functional Morbidity Upon Discharge From the Pediatric Intensive Care Unit After Critical Bronchiolitis

Author

Leya Saju, Debra Rosenbaum, Deanne Wilson-Costello, Katherine Slain, Anne Stormorken, and Steven L. Shein

Subjects
Child, Preschool, Pediatrics, Perinatology and Child Health, Bronchiolitis, Humans, General Medicine, Morbidity, Child, Intensive Care Units, Pediatric, Pediatrics, Patient Discharge, Retrospective Studies
Abstract

BACKGROUND AND OBJECTIVE Improved survival has shifted research focus toward understanding alternate PICU outcomes, including neurocognitive and functional changes. Bronchiolitis is a common PICU diagnosis, but its neuro-functional outcomes have not been adequately described in contemporary literature. The objective of the study is to describe the epidemiology and associated clinical characteristics of acute neuro-functional morbidity (ANFM) in critical bronchiolitis. METHODS Patients RESULTS Among 417 children, 16.7% had ANFM, predominantly swallow difficulties (95.7%). Children with ANFM had lower weight (5.9 [4.4–8.2] vs 7.7 [5.5–9.7] kg, P = .001), longer LOS (6.6 [2.5–13.3] vs 1.9 [0.9–3.5] days, P < .001), intubation (51.4% vs 6.1%, P < .001) and high-risk status (37.1% vs 8.4%, P < .001). Among 362 low risk subjects, ANFM was identified in 44 (12%). In a multivariate logistic regression model, high-risk status, intubation, and ICU LOS were associated with ANFM. ANFM persisted to hospital discharge in 46% of cases. CONCLUSIONS One out of 6 patients with critical bronchiolitis had documentation consistent with ANFM at PICU discharge. Risk factors included previous neurologic conditions, longer LOS, and intubation. Many were low-risk and/or did not require intubation, indicating a risk for neuro-functional morbidities despite moderate acuity.

Published
2022

17. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.

Author

Bancroft E.K., Page E.C., Brook M.N., Thomas S., Taylor N., Pope J., McHugh J., Jones A.-B., Karlsson Q., Merson S., Ong K.R., Hoffman J., Huber C., Maehle L., Grindedal E.M., Stormorken A., Evans D.G., Rothwell J., Lalloo F., Brady A.F., Bartlett M., Snape K., Hanson H., James P., McKinley J., Mascarenhas L., Syngal S., Ukaegbu C., Side L., Thomas T., Barwell J., Teixeira M.R., Izatt L., Suri M., Macrae F.A., Poplawski N., Chen-Shtoyerman R., Ahmed M., Musgrave H., Nicolai N., Greenhalgh L., Brewer C., Pachter N., Spigelman A.D., Azzabi A., Helfand B.T., Halliday D., Buys S., Ramon Y Cajal T., Donaldson A., Cooney K.A., Harris M., McGrath J., Davidson R., Taylor A., Cooke P., Myhill K., Hogben M., Aaronson N.K., Ardern-Jones A., Bangma C.H., Castro E., Dearnaley D., Dias A., Dudderidge T., Eccles D.M., Green K., Eyfjord J., Falconer A., Foster C.S., Gronberg H., Hamdy F.C., Johannsson O., Khoo V., Lilja H., Lindeman G.J., Lubinski J., Axcrona K., Mikropoulos C., Mitra A.V., Moynihan C., Ni Raghallaigh H., Rennert G., Collier R., Offman J., Kote-Jarai Z., Eeles R.A., Bancroft E.K., Page E.C., Brook M.N., Thomas S., Taylor N., Pope J., McHugh J., Jones A.-B., Karlsson Q., Merson S., Ong K.R., Hoffman J., Huber C., Maehle L., Grindedal E.M., Stormorken A., Evans D.G., Rothwell J., Lalloo F., Brady A.F., Bartlett M., Snape K., Hanson H., James P., McKinley J., Mascarenhas L., Syngal S., Ukaegbu C., Side L., Thomas T., Barwell J., Teixeira M.R., Izatt L., Suri M., Macrae F.A., Poplawski N., Chen-Shtoyerman R., Ahmed M., Musgrave H., Nicolai N., Greenhalgh L., Brewer C., Pachter N., Spigelman A.D., Azzabi A., Helfand B.T., Halliday D., Buys S., Ramon Y Cajal T., Donaldson A., Cooney K.A., Harris M., McGrath J., Davidson R., Taylor A., Cooke P., Myhill K., Hogben M., Aaronson N.K., Ardern-Jones A., Bangma C.H., Castro E., Dearnaley D., Dias A., Dudderidge T., Eccles D.M., Green K., Eyfjord J., Falconer A., Foster C.S., Gronberg H., Hamdy F.C., Johannsson O., Khoo V., Lilja H., Lindeman G.J., Lubinski J., Axcrona K., Mikropoulos C., Mitra A.V., Moynihan C., Ni Raghallaigh H., Rennert G., Collier R., Offman J., Kote-Jarai Z., and Eeles R.A.

Abstract

BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants. Here, we report the usefulness of PSA screening, prostate cancer incidence, and tumour characteristics after the first screening round in men with and without these germline pathogenic variants. METHOD(S): The IMPACT study is an international, prospective study. Men aged 40-69 years without a previous prostate cancer diagnosis and with a known germline pathogenic variant in the MLH1, MSH2, or MSH6 gene, and age-matched male controls who tested negative for a familial pathogenic variant in these genes were recruited from 34 genetic and urology clinics in eight countries, and underwent a baseline PSA screening. Men who had a PSA level higher than 3.0 ng/mL were offered a transrectal, ultrasound-guided, prostate biopsy and a histopathological analysis was done. All participants are undergoing a minimum of 5 years' annual screening. The primary endpoint was to determine the incidence, stage, and pathology of screening-detected prostate cancer in carriers of pathogenic variants compared with non-carrier controls. We used Fisher's exact test to compare the number of cases, cancer incidence, and positive predictive values of the PSA cutoff and biopsy between carriers and non-carriers and the differences between disease types (ie, cancer vs no cancer, clinically significant cancer vs no cancer). We assessed screening outcomes and tumour characteristics by pathogenic variant status. Here we present results from the first round of PSA screening in the IMPACT study. This

Published
2022

19. Developing intercultural communicative competence through linguistic diversity in the English subject: A study of the impact of multilingualism in the Norwegian vocational classroom

Author

Stormorken, Hanne Lisa

Abstract

Norge blir stadig et mer mangfoldig samfunn og dette reflekteres i den norske skolen. For å kunne imøtekomme alle elevene i skole må derfor våre pedagogiske og didaktiske tilnærminger tilpasses. In denne masteroppgaven har det yrkesfaglige klasserommet blitt undersøkt i et forsøk på å begynne og forstå hvordan språklig diversitet, eller flerspråklighet, kan bidra til utviklingen av interkulturell kommunikativ kompetanse. Masterstudien tar for seg et semi-strukturert fokusgruppe intervju med 12 elever fra en engelskklasse fra første året på yrkesfag. Formålet med studien er å bringe frem elevperspektivet til flerspråklige elever, å undersøke hvordan språklig diversitet kan bidra til interkulturell kompetanse utvikling, og å diskutere transspråking teori som en tilnærming til undervisning i den mangfoldige skolen. Hovedfunnene indikerer at språklig diversitet både implisitt og eksplisitt kan bidra til utviklingen av interkulturell kommunikativ kompetanse i flerspråklige klasserom. Basert på deltagerens rapporterte erfaringer ser det ut til at interkulturelle perspektiver kan utvikles på bakgrunn av flerspråklighet, og at interkulturelle språkpraksiser hos flerspråklige utvikles basert på språklig diversitet i engelskundervisningen. I tillegg indikerer konklusjonene at transpråklige tilnærminger kan videreføre utviklingsprosessen av interkulturell kommunikativ kompetanse. Due to an increasingly diverse Norwegian society, the educational context has changed. The pedagogical and didactic approaches to the modern-day classroom must therefore make the appropriate adjustments. In this master’s thesis, the Norwegian vocational classroom has been explored to begin to understand how linguistic diversity, or multilingualism, can contribute to the development of intercultural communicative competence. The thesis study: Developing intercultural communicative competence through linguistic diversity in the English subject: A study of the impact of multilingualism in the Norwegian vocational classroom, consists of one semi-structured focus group interview with 12 students from a vocational English class in upper secondary school in Norway. The main goals of the study are to bring forward the multilingual student perspective, to research how diversity can contribute to intercultural competency development, and to discuss translingual theory as an approach to teaching with diversity. The main conclusions drawn indicate that linguistic diversity can contribute to the development of intercultural communicative competence, both implicitly and explicitly. The main findings indicate that practices of multilingual students develop due to linguistic diversity, and that perspectives to some extent are influenced by linguistic diversity’s contribution in the English subject classroom. Additionally, the conclusions suggest that translingual approaches to English language teaching could contribute to these processes.

Published
2022

20. Mechanisms to expedite pediatric clinical trial site activation: The DOSE trial experience

Author

Angelique E. Boutzoukas, Rachel Olson, Mary Ann Sellers, Gwenyth Fischer, Chi D. Hornik, Omar Alibrahim, Kelechi Iheagwara, Kamal Abulebda, Andora L. Bass, Katherine Irby, Anjali Subbaswamy, Elizabeth E. Zivick, Jill Sweney, Anne G. Stormorken, Erin E. Barker, Riad Lutfi, Michael C. McCrory, John M. Costello, Kate G. Ackerman, Jennifer C. Munoz Pareja, J. Michael Dean, Nael Abdelsamad, Daniel F. Hanley, W. Andrew Mould, Karen Lane, Mary Stroud, Bryan J. Feger, Rachel G. Greenberg, P. Brian Smith, Daniel K. Benjamin, Christoph P. Hornik, Kanecia O. Zimmerman, and Mara L. Becker

Subjects
Pharmacology (medical), General Medicine
Abstract

Timely trial start-up is a key determinant of trial success; however, delays during start-up are common and costly. Moreover, data on start-up metrics in pediatric clinical trials are sparse. To expedite trial start-up, the Trial Innovation Network piloted three novel mechanisms in the trial titled Dexmedetomidine Opioid Sparing Effect in Mechanically Ventilated Children (DOSE), a multi-site, randomized, double-blind, placebo-controlled trial in the pediatric intensive care setting.The three novel start-up mechanisms included: 1) competitive activation; 2) use of trial start-up experts, called site navigators; and 3) supplemental funds earned for achieving pre-determined milestones. After sites were activated, they received a web-based survey to report perceptions of the DOSE start-up process. In addition to perceptions, metrics analyzed included milestones met, time to start-up, and subsequent enrollment of subjects.Twenty sites were selected for participation, with 19 sites being fully activated. Across activated sites, the median (quartile 1, quartile 3) time from receipt of regulatory documents to site activation was 82 days (68, 113). Sites reported that of the three novel mechanisms, the most motivating factor for expeditious activation was additional funding available for achieving start-up milestones, followed by site navigator assistance and then competitive site activation.Study start-up is a critical time for the success of clinical trials, and innovative methods to minimize delays during start-up are needed. Milestone-based funds and site navigators were preferred mechanisms by sites participating in the DOSE study and may have contributed to the expeditious start-up timeline achieved.gov #: NCT03938857.

Published
2023

23. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Author

Bancroft, Elizabeth K, primary, Page, Elizabeth C, additional, Brook, Mark N, additional, Thomas, Sarah, additional, Taylor, Natalie, additional, Pope, Jennifer, additional, McHugh, Jana, additional, Jones, Ann-Britt, additional, Karlsson, Questa, additional, Merson, Susan, additional, Ong, Kai Ren, additional, Hoffman, Jonathan, additional, Huber, Camilla, additional, Maehle, Lovise, additional, Grindedal, Eli Marie, additional, Stormorken, Astrid, additional, Evans, D Gareth, additional, Rothwell, Jeanette, additional, Lalloo, Fiona, additional, Brady, Angela F, additional, Bartlett, Marion, additional, Snape, Katie, additional, Hanson, Helen, additional, James, Paul, additional, McKinley, Joanne, additional, Mascarenhas, Lyon, additional, Syngal, Sapna, additional, Ukaegbu, Chinedu, additional, Side, Lucy, additional, Thomas, Tessy, additional, Barwell, Julian, additional, Teixeira, Manuel R, additional, Izatt, Louise, additional, Suri, Mohnish, additional, Macrae, Finlay A, additional, Poplawski, Nicola, additional, Chen-Shtoyerman, Rakefet, additional, Ahmed, Munaza, additional, Musgrave, Hannah, additional, Nicolai, Nicola, additional, Greenhalgh, Lynn, additional, Brewer, Carole, additional, Pachter, Nicholas, additional, Spigelman, Allan D, additional, Azzabi, Ashraf, additional, Helfand, Brian T, additional, Halliday, Dorothy, additional, Buys, Saundra, additional, Ramon y Cajal, Teresa, additional, Donaldson, Alan, additional, Cooney, Kathleen A, additional, Harris, Marion, additional, McGrath, John, additional, Davidson, Rosemarie, additional, Taylor, Amy, additional, Cooke, Peter, additional, Myhill, Kathryn, additional, Hogben, Matthew, additional, Aaronson, Neil K, additional, Ardern-Jones, Audrey, additional, Bangma, Chris H, additional, Castro, Elena, additional, Dearnaley, David, additional, Dias, Alexander, additional, Dudderidge, Tim, additional, Eccles, Diana M, additional, Green, Kate, additional, Eyfjord, Jorunn, additional, Falconer, Alison, additional, Foster, Christopher S, additional, Gronberg, Henrik, additional, Hamdy, Freddie C, additional, Johannsson, Oskar, additional, Khoo, Vincent, additional, Lilja, Hans, additional, Lindeman, Geoffrey J, additional, Lubinski, Jan, additional, Axcrona, Karol, additional, Mikropoulos, Christos, additional, Mitra, Anita V, additional, Moynihan, Clare, additional, Ni Raghallaigh, Holly, additional, Rennert, Gad, additional, Collier, Rebecca, additional, Offman, Judith, additional, Kote-Jarai, Zsofia, additional, Eeles, Rosalind A, additional, Adams, Lisa, additional, Adlard, Julian, additional, Alfonso, Rosa, additional, Ali, Saira, additional, Andrew, Angela, additional, Araújo, Luís, additional, Azam, Nazya, additional, Ball, Darran, additional, Barker, Queenstone, additional, Basevitch, Alon, additional, Benton, Barbara, additional, Berlin, Cheryl, additional, Bermingham, Nicola, additional, Biller, Leah, additional, Bloss, Angela, additional, Bradford, Matilda, additional, Bradshaw, Nicola, additional, Branson, Amy, additional, Brendler, Charles, additional, Brennan, Maria, additional, Bulman, Barbara, additional, Burgess, Lucy, additional, Cahill, Declan, additional, Callard, Alice, additional, Calvo Verges, Nuria, additional, Cardoso, Marta, additional, Carter, Vanda, additional, Catanzaro, Mario, additional, Chamberlain, Anthony, additional, Chapman, Cyril, additional, Chong, Michael, additional, Clark, Caroline, additional, Clowes, Virginia, additional, Cogley, Lyn, additional, Cole, Trevor, additional, Compton, Cecilia, additional, Conner, Tom, additional, Cookson, Sandra, additional, Cornford, Philip, additional, Costello, Philandra, additional, Coulier, Laura, additional, Davies, Michaela, additional, Dechet, Christopher, additional, DeSouza, Bianca, additional, Devlin, Gemma, additional, Douglas, Fiona, additional, Douglas, Emma, additional, Dudakia, Darshna, additional, Duncan, Alexis, additional, Ellery, Natalie, additional, Everest, Sarah, additional, Freemantle, Sue, additional, Frydenberg, Mark, additional, Fuller, Debbie, additional, Gabriel, Camila, additional, Gale, Madeline, additional, Garcia, Lynda, additional, Gay, Simona, additional, Genova, Elena, additional, George, Angela, additional, Georgiou, Demetra, additional, Gisbert, Alexandra, additional, Gleeson, Margaret, additional, Glover, Wayne, additional, Gnanapragasam, Vincent, additional, Goff, Sally, additional, Goldgar, David, additional, Gonçalves, Nuno, additional, Goodman, Selina, additional, Gorrie, Jennifer, additional, Gott, Hannah, additional, Grant, Anna, additional, Gray, Catherine, additional, Griffiths, Julie, additional, Gupwell, Karin, additional, Gurasashvili, Jana, additional, Hanslien, Eldbjørg, additional, Haraldsdottir, Sigurdis, additional, Hart, Rachel, additional, Hartigan, Catherine, additional, Hawkes, Lara, additional, Heaton, Tricia, additional, Henderson, Alex, additional, Henrique, Rui, additional, Hilario, Kathrine, additional, Hill, Kathryn, additional, Hulick, Peter, additional, Hunt, Clare, additional, Hutchings, Melanie, additional, Ibitoye, Rita, additional, Inglehearn, Thomas, additional, Ireland, Joanna, additional, Islam, Farah, additional, Ismail, Siti, additional, Jacobs, Chris, additional, James, Denzil, additional, Jenkins, Sharon, additional, Jobson, Irene, additional, Johnstone, Anne, additional, Jones, Oliver, additional, Josefsberg Ben-Yehoshua, Sagi, additional, Kaemba, Beckie, additional, Kaul, Karen, additional, Kemp, Zoe, additional, Kinsella, Netty, additional, Klehm, Margaret, additional, Kockelbergh, Roger, additional, Kohut, Kelly, additional, Kosicka-Slawinska, Monika, additional, Kulkarni, Anjana, additional, Kumar, Pardeep, additional, Lam, Jimmy, additional, LeButt, Mandy, additional, Leibovici, Dan, additional, Lim, Ramona, additional, Limb, Lauren, additional, Lomas, Claire, additional, Longmuir, Mark, additional, López, Consol, additional, Magnani, Tiziana, additional, Maia, Sofia, additional, Maiden, Jessica, additional, Male, Alison, additional, Manalo, Merrie, additional, Martin, Phoebe, additional, McBride, Donna, additional, McGuire, Michael, additional, McMahon, Romayne, additional, McNally, Claire, additional, McVeigh, Terri, additional, Melzer, Ehud, additional, Mencias, Mark, additional, Mercer, Catherine, additional, Mitchell, Gillian, additional, Mora, Josefina, additional, Morton, Catherine, additional, Moss, Cathryn, additional, Murphy, Morgan, additional, Murphy, Declan, additional, Mzazi, Shumi, additional, Nadolski, Maria, additional, Newlin, Anna, additional, Nogueira, Pedro, additional, O'Keefe, Rachael, additional, O'Toole, Karen, additional, O'Connell, Shona, additional, Ogden, Chris, additional, Okoth, Linda, additional, Oliveira, Jorge, additional, Paez, Edgar, additional, Palou, Joan, additional, Park, Linda, additional, Patel, Nafisa, additional, Paulo Souto, João, additional, Pearce, Allison, additional, Peixoto, Ana, additional, Perez, Kimberley, additional, Petelin, Lara, additional, Pichert, Gabriella, additional, Poile, Charlotte, additional, Potter, Alison, additional, Preitner, Nadia, additional, Purnell, Helen, additional, Quinn, Ellen, additional, Radice, Paolo, additional, Rankin, Brigette, additional, Rees, Katie, additional, Renton, Caroline, additional, Richardson, Kate, additional, Risby, Peter, additional, Rogers, Jason, additional, Ruderman, Maggie, additional, Ruiz, April, additional, Sajoo, Anaar, additional, Salvatore, Natale, additional, Sands, Victoria, additional, Sanguedolce, Francesco, additional, Sattar, Ayisha, additional, Saunders, Kathryn, additional, Schofield, Lyn, additional, Scott, Rodney, additional, Searle, Anne, additional, Sehra, Ravinder, additional, Selkirk, Christina, additional, Shackleton, Kylie, additional, Shanley, Sue, additional, Shaw, Adam, additional, Shevrin, Daniel, additional, Shipman, Hannah, additional, Sidat, Zahirah, additional, Siguake, Kas, additional, Simon, Kate, additional, Smyth, Courtney, additional, Snadden, Lesley, additional, Solanky, Nita, additional, Solomons, Joyce, additional, Sorrentino, Margherita, additional, Stayner, Barbara, additional, Stephenson, Robert, additional, Stoffel, Elena, additional, Thomas, Maggie, additional, Thompson, Alan, additional, Tidey, Lizzie, additional, Tischkowitz, Marc, additional, Torokwa, Audrey, additional, Townshend, Sharron, additional, Treherne, Katy, additional, Tricker, Karen, additional, Trinh, Quoc-Dien, additional, Tripathi, Vishakha, additional, Turnbull, Clare, additional, Valdagni, Riccardo, additional, Van As, Nicholas, additional, Venne, Vickie, additional, Verdon, Lizzie, additional, Vitellaro, Marco, additional, Vogel, Kristen, additional, Walker, Lisa, additional, Watford, Amy, additional, Watt, Cathy, additional, Weintroub, Ilana, additional, Weiss, Shelly, additional, Weissman, Scott, additional, Weston, Michelle, additional, Wiggins, Jennifer, additional, Wise, Gillian, additional, Woodhouse, Christopher, additional, Yesildag, Pembe, additional, Youngs, Alice, additional, Yurgelun, Matthew, additional, and Zollo, Fabiana, additional

Published
2021
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26. A review of key strategies to address the shortage of analgesics and sedatives in pediatric intensive care.

Author

de Castro REV, Rodríguez-Rubio M, de Magalhães-Barbosa MC, Prata-Barbosa A, Holbrook J, Kamat P, and Stormorken A

Abstract

Importance: Targeted analgosedation is a challenge in critically ill children, and this challenge becomes even more significant with drug shortages., Observations: Published guidelines inform the provision of analgosedation in critically ill children. This review provides insights into general approaches using these guidelines during drug shortages in Pediatric Intensive Care Units as well as strategies to optimize both pharmacological and non-pharmacological approaches in these situations., Conclusions and Relevance: Considering that drug shortages are a recurrent worldwide problem, this review may guide managing these drugs in critically ill children in situations of scarcity, such as in pandemics or disasters., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Castro, Rodríguez-Rubio, Magalhães-Barbosa, Prata-Barbosa, Holbrook, Kamat and Stormorken.)

Published
2022
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