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Träfflista för sökning "hsv:(MEDICIN OCH HÄLSOVETENSKAP) hsv:(Klinisk medicin) hsv:(Hematologi) ;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.	Klein, Kim, et al. (author) Characteristics and Outcomes of Pediatric Patients with t(16;16)-AML: Results of a Case Series By the International BFM Study Group 2017 In: Blood. 130 (Supplement 1), 2671.. - 0006-4971 .- 1528-0020. Conference paper (peer-reviewed)
4.	Sandström, Göran, et al. (author) Iron Deficiency And Anemia In Top Athletes - How To Use The Transferrin Receptor 2005 In: Medicine & Science in Sports & Exercise. - 0195-9131. Conference paper (other academic/artistic)
5.	Sandström, Göran, et al. (author) Iron deficiency - more common among female athletes than non-athletes? 2004 In: Medicine & Science in Sports & Exercise. - : Ovid Technologies (Wolters Kluwer Health). - 0195-9131. Conference paper (other academic/artistic)
6.	Adolfsen Løhmann, Ditte, et al. (author) Obesity Is Associated with Favorable Cytogenetic Abnormalities in Pediatric Acute Myeloid Leukemia 2017 In: Blood. 130 (Supplement 1), 1302.. - 0006-4971 .- 1528-0020. Conference paper (peer-reviewed)
7.	Bager, Ninna, et al. (author) Monosomal but not complex karyotype in pediatric AML associated with refractory disease. A NOPHO-DBH-AML study. 2017 In: NOPHO Annual Meeting Abstracts, 19-23 May 2017 Stockholm, FP-13. Conference paper (other academic/artistic)
8.	Borg Hammer, AS, et al. (author) Hypodiploidy in childhood acute myeloid leukemia: A retrospective cohort studyby the international BFM study group. 2018 In: NOPHO annual meeting abstracts. - 0006-4971 .- 1528-0020. Conference paper (other academic/artistic)
9.	Ek, Torben, 1963, et al. (author) Immune Reconstitution after Treatment for Childhood Acute Lymphoblastic Leukemia is most Disturbed in the High-risk Group 2004 In: Pediatric Blood & Cancer. - 1545-5009. Conference paper (peer-reviewed)
10.	Ek, Torben, et al. (author) Immune Response to Vaccination with Tetanus and Hib after Childhood ALL Treatment Depends on Treatment Intensity 2003 In: Medical and pediatric Oncology. ; 41:4 Conference paper (peer-reviewed)

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Type of publication: conference paper (247)Undo refine

Type of content: peer-reviewed (221); other academic/artistic (26)

Author/Editor: Abrahamsson, Jonas, ... (28); Berntorp, Erik (25); Olsson, Martin L (21); Astermark, Jan (18); Karlsson, Stefan (16); Hasle, Henrik (14); show more...; Juliusson, Gunnar (11); Karlsson, Göran (10); Ljung, Rolf (10); Forestier, Erik (9); Scheding, Stefan (9); Larsson, Jonas (9); Zeller, Bernward (8); Turesson, Ingemar (8); Jonsson, OG (8); Rosenquist, Richard (8); Bjorkholm, Magnus (8); Tormin, Ariane (7); Storry, Jill (7); Hult, Annika (7); Delabie, Jan (7); Brune, Jan Claas (7); Quere, Ronan (7); Jahnukainen, Kirsi (6); Schmiegelow, Kjeld (6); Anderson, Harald (6); Sundstrom, Christer (6); Reinhardt, Dirk (6); Holte, Harald (6); Olsson, Karin (6); Landgren, Ola (6); Hellberg, Åsa (6); Jerkeman, Mats (5); Gustafsson, Göran (5); Erlanson, Martin (5); Mansouri, Larry (5); Fioretos, Thoas (5); Palle, Josefine (5); Relander, Thomas (5); Lundin, Björn (5); Hillarp, Andreas (5); Cavallin-Ståhl, Eva (5); Rissler, Marianne (5); Porkka, Kimmo (5); Mustjoki, Satu (5); Cammenga, Jörg (5); Kristinsson, Sigurdu ... (5); von Mackensen, S (5); Stenke, Leif (5); Ostenstad, Bjorn (5); show less...

University: Lund University (197); University of Gothenburg (39); Karolinska Institutet (38); Uppsala University (5); Umeå University (3); Royal Institute of Technology (2); show more...; Linköping University (2); Örebro University (1); Chalmers University of Technology (1); Swedish University of Agricultural Sciences (1); show less...

Language: English (247)

Research subject (UKÄ/SCB): Medical and Health Sciences (247)

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