Search

Your search keyword '"Stormorken A"' showing total 195 results
Start Over Author "Stormorken A" Publication Type Academic Journals
195 results on '"Stormorken A"'

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
Full Text
View/download PDF

3. MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer

Author

Stormorken Astrid, Heintz Karen-Marie, Andresen Per, Hovig Eivind, and Møller Pål

Subjects
familial adenomatous polyposis coli, hereditary non-polyposis colorectal cancer, late onset familial colorectal cancer, MUTYH mutations, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Abstract

Abstract Recently, carriers of biallelic mutations in the base excision repair gene MUTYH, have been demonstrated to have a predisposition for multiple adenomas and colorectal cancer. Still, many questions remain unanswered concerning MUTYH. We have addressed the following: Do biallelic MUTYH mutation carriers invariably demonstrate FAP, and may MUTYH be a gene causing HNPCC, HNPCC-like or dominantly inherited late onset colorectal cancer? We examined affecteds from our total series of HNPCC, HNPCC-like and dominantly inherited late onset colorectal cancer kindreds not demonstrated to have any MMR mutations. Bloodsamples from 96 patients were subjected to sequencing of exon 7 and exon 13 in the MUTYH gene. Two heterozygotes and one homozygote for the European founder mutations were found. The homozygous carrier did not meet criteria for FAP/AFAP. We conclude that MUTYH, when mutated, causes a rare recessively inherited disorder including colorectal- and duodenal cancers. It is not verified that heterozygous carriers of MUTYH mutations have an increased risk of cancer, and they do not explain the occurrence of familial colorectal cancer in the population.

Published
2006
Full Text
View/download PDF

4. 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
Full Text
View/download PDF

5. 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
Full Text
View/download PDF

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
Full Text
View/download PDF

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
Full Text
View/download PDF

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
Full Text
View/download PDF

10. 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
Full Text
View/download PDF

12. Physical Rehabilitation in Critically Ill Children: A Multicenter Point Prevalence Study in the United States

Author

Kudchadkar, Sapna R., Nelliot, Archana, Awojoodu, Ronke, Vaidya, Dhananjay, Traube, Chani, Walker, Tracie, Needham, Dale M., Agus, Michael S. D., Coughlin-Wells, Kerry, Babbitt, Christopher J., Basnet, Sangita, Spenner, Allison, Bailey, Christine, Lee, Kristen N., Behrens, Deanna, Donovan, Ramona, Betters, Kristina A., Canter, Marguerite O., Bone, Meredith F., VandenBranden, Sara, Bysani, Gokul Kris, Chrisman, Maddie, Fink, Ericka L., Christie, LeeAnn, Christopher, Jean, Cifra, Christina, Lilitwat, Weerapong, Cooper, David S., Rice, Alicia, Cowl, Allison S., Custer, Jason W., Chung, Melissa G., Van Damme, Danielle, Smith, Kristen A., Dixon, Rebecca, Dorfman, Molly V., Mancini, Ashley, Dial, Sharon P., Di Gennaro, Jane L., Dervan, Leslie A., Doughty, Lesley, Benken, Laura, Dugan, Mark C., Ari, Judith Ben, Flaigle, Melanie Cooper, Smith, Vianne, Gertz, Shira J., Gregersen, Katherine, Abd-Allah, Shamel A., Hamrick, Justin, Irby, Katherine, Herbsman, Jodi, Al-Qaqaa, Yasir M., Holcroft, John, Hulfish, Erin, Culver, Kathleen, Hupp, Susan, DeMonbrun, Andrea, Iheagwara, Kelechi, Lavigne-Sims, Shelli, Joyce, Christine, Traube, Chani, Kamat, Pradip, Stone, Cheryl, Kamath, Sameer S., Harward, Melissa, Kaszubski, Priscilla, Daguanno, Joanne, Kavanagh, Robert P., Spear, Debbie, Kawai, Yu, Fryer, Karen, Kramer, Bree, Kreml, Erin M., Burrows, Brian T., Kiragu, Andrew W., Lane, John, Le, Truc M., Williams, Stacey R., Lin, John C., Florin, Amanda, Luckett, Peter M., Robertson, Tammy, Madrigal, Vanessa N., Harlow, Ashleigh B., Markovitz, Barry, Beltramo, Fernando, McCrory, Michael C., McKinney, Robin L., Naim, Maryam Y., Nair, Asha G., Thiagarajan, Ravi, Narayan, Shilpa, Murkowski, Kathleen, Gowda, Keshava Murthy Narayana, See, Jhoclay, Nawathe, Pooja A., Novotny, William E., Keel, Cynthia, Oishi, Peter, Marupudi, Neelima, Ortmann, Laura, O’Meara, A. M. Iqbal, Miller Ferguson, Nikki, Peters, Megan E., Pinto, Neethi, Kniola, Allison, Rowan, Courtney M., Mazurczyk, Jill, Shah, Shilpa, Lachman, Sage, Singleton, Marcy N., Nett, Sholeen T., Spaeder, Michael C., Zschaebitz, Jenna V., Spentzas, Thomas, Sreedhar, Sue S., Steffen, Katherine M., Chen, Michelle, Stormorken, Anne, Blatz, Allison, Tadphale, Sachin D., Tasker, Robert C., Griffin, John F., Uhl, Tammy L., Harward, Melissa, Walson, Karen H., Bates, Cynthia, Watson, Christopher M., Sheram, Mary Lynn, Williams, Cydni N., Kirby, Aileen, Wolf, Michael, Lowry, Kellet, Wolfe, Heather A., Yates, Andrew R., and Beckman, Brian

Published
2020
Full Text
View/download PDF

14. From Chaos and Insecurity to Understanding and Coping: Experienced Benefits of a Group-Based Education Programme for People with Chronic Fatigue Syndrome

Author

Pinxsterhuis, Irma, Strand, Elin Bolle, Stormorken, Eva, and Sveen, Unni

Abstract

The aim of this study was to elicit participants' experiences with a multidisciplinary patient education programme and their views regarding the usefulness of the programme. Focus group interviews were conducted with 10 participants immediately and nine months following participation in the programme and analysed using thematic analysis. Initially, the participants experienced confusion and insecurity regarding coping with the illness. Participation in the programme appeared to promote understanding, acceptance and coping through gaining greater knowledge, learning coping strategies and exchanging experiences, as well as receiving understanding and acceptance. Thus, the programme was experienced to be a beneficial intervention. However, the participants expressed a need for more guidance or follow-up to maintain the practice of coping strategies for better coping with their illness.

Published
2015
Full Text
View/download PDF

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

Author

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

Subjects
CLEFT palate, CLEFT lip, HYPODONTIA, COLON polyps, SYNDROMES
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. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

21. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

Author

Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Rahner, N., Hes, F. J., Hodgson, S., Mecklin, J.-P., Møller, P., Myrhøj, T., Nagengast, F. M., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Tejpar, S., Thomas, H. J. W., Wijnen, J., Lubinski, J., Järvinen, H., Claes, E., Heinimann, K., Karagiannis, J. A., Lindblom, A., Dove-Edwin, I., and Müller, H.

Published
2010
Full Text
View/download PDF

22. Peutz-Jeghers syndrome: a systematic review and recommendations for management

Author

Beggs, A.D., Latchford, A.R., Vasen, H.F.A., Moslein, G., Alonso, A., Aretz, S., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Friedl, W., Moller, P., Hes, F.J., Jarvinen, H., Mecklin, J.-P., Nagengast, F.M., Parc, Y., Phillips, R.K.S., Hyer, W., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Tejpar, S., Thomas, H.J.W., Wijnen, J.T., Clark, S.K., and Hodgson, S.V.

Subjects
Peutz-Jeghers syndrome -- Diagnosis, Peutz-Jeghers syndrome -- Care and treatment, Peutz-Jeghers syndrome -- Development and progression, Peutz-Jeghers syndrome -- Risk factors, Medical literature -- Analysis, Health
Published
2010

23. A Dominant STIM1 Mutation Causes Stormorken Syndrome

Author

Misceo, Doriana, Holmgren, Asbjrn, Louch, William E., Holme, Pål A., Mizobuchi, Masahiro, Morales, Raul J., Maues De Paula, André, Stray-Pedersen, Asbjrg, Lyle, Robert, Dalhus, Bjrn, Christensen, Geir, Stormorken, Helge, Tjnnfjord, Geir E., and Frengen, Eirik

Published
2014
Full Text
View/download PDF

25. Guidelines for the clinical management of familial adenomatous polyposis (FAP)

Author

Vasen, H.F.A., Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Friedl, W., Hes, F.J., Hodgson, S., Jarvinen, H., Mecklin, J.-P., Moller, P., Myrhoi, T., Nagengast, F.M., Parc, Y., Phillips, R., Clark, S.K., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J.R., Stormorken, A., Tejpar, S., Thomas, H.J.W., and Wijnen, J.

Subjects
Polyposis, Familial -- Care and treatment, Practice guidelines (Medicine) -- Evaluation, Colorectal cancer -- Risk factors, Colorectal cancer -- Prevention, Health
Published
2008

28. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Author

Vasen, Hans F A, Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P, Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian M, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J, Hodgson, Shirley V, Karagiannis, John A, Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Møller, Pal, Myrhoj, Torben, Nagengast, Fokko M, Parc, Yann, Ponz de Leon, Maurizio, Renkonen-Sinisalo, Laura, Sampson, Julian R, Stormorken, Astrid, Sijmons, Rolf H, Tejpar, Sabine, Thomas, Huw J W, Rahner, Nils, Wijnen, Juul T, Järvinen, Heikki Juhani, and Möslein, Gabriela

Published
2013
Full Text
View/download PDF

42. The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry

Author

Grindedal, Eli Marie, Aarset, Harald, Bjarnevoll, Inga, Rayset, Elin, Maehle, Lovise, Stormorken, Astrid, Heramb, Cecilie, Medvik, Heidi, Maller, Pål, and Sjursen, Wenche

Subjects
Health
Abstract

Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was to examine the sensitivity of IHC and microsatellite instability-analysis (MSI) to identify carriers of the mutation, and to estimate its penetrance and expressions. Methods All carriers and obligate carriers of the mutation were identified. All cancer diagnoses were confirmed. IHC and MSI-analysis were performed on available tumours. Penetrances of cancers included in the Amsterdam and the Bethesda Criteria, for MSI-high tumours and MSI-high and low tumours were calculated by the Kaplan-Meier algorithm. Results Probability for co-segregation of the mutation and cancers by chance was 0.000004. Fifty-six carriers or obligate carriers were identified. There was normal staining for PMS2 in 15/18 (83.3%) of tumours included in the AMS1/AMS2/Bethesda criteria. MSI-analysis showed that 15/21 (71.4%) of tumours were MSI-high and 4/21 (19.0%) were MSI-low. Penetrance at 70 years was 30.6% for AMS1 cancers (colorectal cancers), 42.8% for AMS2 cancers, 47.2% for Bethesda cancers, 55.6% for MSI-high and MSI-low cancers and 52.2% for MSI-high cancers. Conclusions The mutation met class 5 criteria for pathogenicity. IHC was insensitive in detecting tumours caused by the mutation. Penetrance of cancers that displayed MSI was 56% at 70 years. Besides colorectal cancers, the most frequent expressions were carcinoma of the endometrium and breast in females and stomach and prostate in males. Keywords: Lynch syndrome, PMS2, Immunohistochemistry, Microsatellite instability, Penetrance, Expression, Author(s): Eli Marie Grindedal[sup.1,2] , Harald Aarset[sup.3] , Inga Bjarnevoll[sup.3] , Elin Rayset[sup.3] , Lovise Maehle[sup.1,2] , Astrid Stormorken[sup.1,2] , Cecilie Heramb[sup.1,2] , Heidi Medvik[sup.1,2] , Pål Maller[sup.1] and Wenche [...]

Published
2014
Full Text
View/download PDF

46. Improved outcome in patients following autologous stem cell transplantation for multiple myeloma in south eastern Norway 2001-2010: a retrospective, population based analysis.

Author

Tangen, Jon-Magnus, Gulbrandsen, Nina, Gedde-Dahl, Tobias, Stormorken, Espen, Anderson, Kristina, Vo, Camilla Dao, Hellem Schjesvold, Fredrik, Tjønnfjord, Geir Erland, For Oslo Myeloma Center, and Schjesvold, Fredrik Hellem

Subjects
OUTCOME assessment (Social services), STEM cell transplantation, MULTIPLE myeloma, THERAPEUTICS, CANCER treatment, PATIENTS, MULTIPLE myeloma treatment, AUTOGRAFTS, TREATMENT effectiveness, RETROSPECTIVE studies, KAPLAN-Meier estimator
Abstract

Background: With the advent of novel drugs improved overall survival in patients with multiple myeloma, including patients who received up-front autologous stem cell transplantation (ASCT), has been reported from several centers. Here we report on overall survival in a population-based cohort of patients receiving ASCT as first line treatment and in whom novel agents were an option for second and later lines of treatment.Methods: Patients with multiple myeloma ≤ 65 years of age who were considered for ASCT from 01.01.2001-31.06.2005 (period 1) and from 01.07.2005 until 31.12.2009 (period 2) at Oslo University Hospital (OUH) were identified. Relevant data were collected from the patients' medical records.Results: Altogether, 293/355 patients received ASCT. In all, median OS was 82.9 months in patients ≤ 60 years of age and 59.0 months in patients 61-65 years. For patients ≤ 60 years of age median OS increased from 70.6 months to 87.7 months (p = 0. 22) and median survival after start of second line therapy increased from 34.5 months to 46.5 months (p = 0.015) between the two periods. For patients 61-65 years of age median OS increased from 57.3 months to 61.2 months (p = 0. 87) and median survival after start of second line therapy was practically unchanged (32.6 months vs. 33.1 months (p = 0.97) between the periods. In patients ≤ 60 years of age salvage ASCT was used in 34% of the patients while in patients 61-65 years of age salvage ASCT was used in 7.3% of the patients. The use of salvage ASCT and novel drugs, as well as the number of treatment lines, were higher in patients ≤ 60 years of age and increased during the study period.Conclusion: In patients ≤ 60 years of age an increased median OS of 17 months between the two periods were noted, but the difference failed to reach statistical significance. However, a statistically significant difference in median survival of 12 months after start of second line therapy was found in this age group, which may be explained by a more active second line treatment. In patients 61-65 years only a slight increase of survival, not statistically significant, was noted between the periods. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

47. Outcomes of Children With Critical Bronchiolitis Living in Poor Communities.

Author

Slain, Katherine N., Shein, Steven L., Stormorken, Anne G., Broberg, Meredith C. G., and Rotta, Alexandre T.

Subjects
ARTIFICIAL respiration, BRONCHIOLE diseases, CATASTROPHIC illness, LENGTH of stay in hospitals, INCOME, INTENSIVE care units, MEDICAL care costs, PEDIATRICS, POVERTY, INDEPENDENT living, RETROSPECTIVE studies, HEALTH & social status, PROGNOSIS, THERAPEUTICS
Abstract

There are established associations between adverse health outcomes and poverty, but little is known regarding these associations in critically ill children. We hypothesized that living in poorer communities would be associated with unfavorable outcomes in children with critical bronchiolitis. This retrospective study included children with bronchiolitis admitted to a pediatric intensive care unit (PICU) over a 2-year period. Median household income was estimated from patient ZIP codes and 2014 US Census Bureau data. The 2014 Federal Poverty Threshold (FPT) for a family of 4 was $24 008. Patients were classified as living in ZIP codes below or above the 150% FPT (150FPT). Living <150FPT was associated with longer PICU length of stay (LOS), longer hospital LOS, higher odds of needing mechanical ventilation, and increased hospital charges. In this cohort of critically ill children with bronchiolitis, living in a poorer community was associated with more unfavorable clinical outcomes. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

48. Factors impacting the illness trajectory of post-infectious fatigue syndrome: a qualitative study of adults' experiences.

Author

Stormorken, Eva, Jason, Leonard A., and Kirkevold, Marit

Subjects
*FATIGUE (Physiology), *CHRONIC diseases, *COGNITIVE ability, *HEALTH of adults, *MEDICAL economics, *CHRONIC fatigue syndrome treatment, *CHRONIC fatigue syndrome, *CONVALESCENCE, *ECONOMIC aspects of diseases, *EPIDEMICS, *GIARDIASIS, *HEALTH attitudes, *MEDICAL care, *MEDICAL needs assessment, *PEOPLE with disabilities, *RESEARCH funding, *QUALITATIVE research, *RETROSPECTIVE studies, *DISEASE progression, *DISEASE complications
Abstract

Background: Post-infectious fatigue syndrome (PIFS), also known as post-viral fatigue syndrome, is a complex condition resulting in physical, cognitive, emotional, neurological, vocational and/or role performance disabilities in varying degrees that changes over time. The needs for health care resources are high, and costly, as is the economic burden on the affected individuals. Many factors may impact the trajectory, and frequently PIFS develops into a chronic condition. Health professionals lack understanding and knowledge, which results in delayed diagnosis, lack of recognition, appropriate treatment, support and practical help. The aim of our study was to explore, from the perspective of persons who had lived with PIFS for four years following an outbreak of Giardia l. induced enteritis, factors that may have impacted their illness trajectory and how these factors had played a role during different phases.Methods: In this retrospective exploratory qualitative study a group of 26 affected adults between 26 and 59 years old were selected for in-depth interviews. A maximum variation sample was recruited from a physician-diagnosed cohort of persons with PIFS enrolled at a tertiary outpatient fatigue clinic. The interviews were audio-recorded, transcribed verbatim and subjected to qualitative content analysis.Results: Unhelpful and helpful factors were associated with the healthcare system, health professionals and the affected persons were experienced as having an impact on the trajectory. External impacting factors which are related to the health care system, providers and the social security system are misdiagnosis, trivialization of symptoms, unhelpful advice, delayed diagnosis and lack of appropriate help. Internal impacting factors related to the affected individuals were lack of knowledge, overestimating functional capacity, assuming the condition will pass, ignoring body signals and denial. A model of impacting factors in each phase of the trajectory is presented.Conclusion: Unmet needs may result in unnecessary disability and high societal and personal costs. Enhanced knowledge of impacting factors in each phase of the trajectory may contribute to more timely and tailored health care services and less use of health services. Increased functional capacity, improved health and ability to work or study may reduce the societal costs and the economic burden for the affected individuals. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results