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Träfflista för sökning "hsv:(MEDICIN OCH HÄLSOVETENSKAP) hsv:(Klinisk medicin) hsv:(Oto rhino laryngologi) ;mspu:(conferencepaper)"

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1.	Björkman, Kristoffer, et al. (author) Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia 2022 In: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9). Conference paper (other academic/artistic)abstract Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
2.	Donnér, Isabella, et al. (author) IL-6 as a possible marker of high risk neutropenia 2017 In: NOPHO Annual Meeting Abstracts, 19-23 May 2017 Stockholm, PO-16. Conference paper (other academic/artistic)
3.	Asker-Árnason, Lena, et al. (author) A comparison between children and adolescents with CI and HA on picture-elicited narration 2011 Conference paper (peer-reviewed)
4.	Asker-Árnason, Lena, et al. (author) Narrative writing in 18 children with cochlear implants 2009 Conference paper (peer-reviewed)
5.	Asker-Árnason, Lena, et al. (author) Narrative writing in eighteen children with cochlear implants 2008 Conference paper (peer-reviewed)
6.	Asker-Árnason, Lena, et al. (author) Pause patterns and working memory capacity 2012 Conference paper (peer-reviewed)
7.	Asker-Árnason, Lena, et al. (author) Pausmönster och arbetsminne i skrivprocessen hos tonåringar med hörselnedsättning 2012 Conference paper (peer-reviewed)
8.	Asker-Árnason, Lena, et al. (author) Pausmönster och arbetsminne i skrivprocessen hos ungdomar med CI och HA 2012 Conference paper (peer-reviewed)
9.	Asker-Árnason, Lena, et al. (author) Picture-elicited written narratives in 11-18 year-olds with different degree of hearing impairment 2010 Conference paper (peer-reviewed)
10.	Brännström, Jonas, et al. (author) Acceptans av bakgrundsbrus och arbetsminneskapacitet 2012 Conference paper (peer-reviewed)

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Type of publication: conference paper (298)Undo refine

Type of content: other academic/artistic (151); peer-reviewed (147)

Author/Editor: Ericsson, Elisabeth, ... (42); Sahlén, Birgitta (24); Hultcrantz, Elisabet ... (24); Hemlin, Claes (22); Sadeghi, André M. (20); Stalfors, Joacim (18); show more...; Sunnergren, Ola (18); Hessén-Söderman, Ann ... (18); Johansson, Rolf (17); Magnusson, Måns (17); Malmberg, Milijana, ... (16); Gisselsson-Solen, Ma ... (14); Odhagen, Erik (12); Asker-Árnason, Lena (11); Behrns, Ingrid, 1961 (10); Ibertsson, Tina (10); Roos, Kristian (10); Hartelius, Lena, 195 ... (9); Johansson, Martin L (9); Fransson, Per-Anders (8); Hansson, Kristina (8); Öberg, Marie (8); Saldert, Charlotta, ... (7); Möller, Claes, 1950- (7); Lunner, Thomas (7); Johansson, Victoria (7); Jönsson, Radoslava, ... (7); Flynn, Mark (7); Omar, Omar (6); Rönnberg, Jerker (6); Alm, Fredrik, 1983- (6); Grenner, Emily (6); Stenfelt, Stefan, 19 ... (6); Eeg-Olofsson, Måns, ... (6); Trobos, Margarita, 1 ... (5); Andersson, Gerhard (5); Ryott, Michael (5); Nerfeldt, Pia (5); Tengstrand, Tomas (5); Mäki-Torkko, Elina (5); Fredriksson, Sofie, ... (5); Svedberg, Marie (5); Forsgren, Emma, 1982 (5); Brännström, Jonas (5); Håkansson, Bo, 1953 (5); Kumlin, Maria (5); Larsson, AnnaKarin, ... (5); Persson, Christina, ... (5); Jangard, Mattias (5); Graf, Jonas (5); show less...

University: University of Gothenburg (95); Lund University (78); Örebro University (72); Linköping University (39); Jönköping University (12); Royal Institute of Technology (9); show more...; Chalmers University of Technology (9); Umeå University (5); Sophiahemmet University College (5); Uppsala University (2); Luleå University of Technology (1); Stockholm University (1); University of Gävle (1); show less...

Language: English (266); Swedish (32)

Research subject (UKÄ/SCB): Medical and Health Sciences (298); Engineering and Technology (26); Humanities (15); Natural sciences (6); Agricultural Sciences (1); Social Sciences (1)

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