Welcome to Hirsla, Landspítali University Hospital research archive

Hirsla is an open access repository, designed as a place to store, index, preserve and redistribute in digital format scholarly work of Landspitali employees. (A/H1N1)

  • Assessing the Nationwide Impact of a Registry-Based Randomized Clinical Trial on Cardiovascular Practice.

    Buccheri, Sergio; Sarno, Giovanna; Fröbert, Ole; Gudnason, Thorarinn; Lagerqvist, Bo; Lindholm, Daniel; Maeng, Michael; Olivecrona, Göran; James, Stefan; 1 ] Uppsala Univ, Dept Med Sci, Cardiol, Dag Hammarskjolds Vag 38, S-75185 Uppsala, Sweden Show more [ 2 ] Uppsala Univ, Uppsala Clin Res Ctr, Dag Hammarskjolds Vag 38, S-75185 Uppsala, Sweden Show more [ 3 ] Orebro Univ Hosp, Dept Cardiol, Orebro, Sweden Show more [ 4 ] Landspitali Univ Hosp, Reykjavik, Iceland Show more [ 5 ] Univ Iceland, Dept Cardiol, Reykjavik, Iceland Show more [ 6 ] Univ Iceland, Cardiovasc Res Ctr, Reykjavik, Iceland Show more [ 7 ] Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark Show more [ 8 ] Lund Univ Hosp, Dept Cardiol, Clin Sci, Lund, Sweden (Lippincott Williams & Wilkins, 2019-03)
    BACKGROUND: Registry-based randomized clinical trials have emerged as useful tools to provide evidence on the comparative efficacy and safety of different therapeutic strategies. However, it remains unknown whether the results of registry-based randomized clinical trials have a sizable impact on daily clinical practice. We sought, therefore, to describe the temporal trends in thrombus aspiration (TA) use in Sweden before, during, and after dissemination of the TASTE trial (Thrombus Aspiration in ST-Elevation Myocardial Infarction in Scandinavia) results. METHODS AND RESULTS: From January 1, 2006, to December 31, 2017, we included all consecutive patients with ST-segment-elevation myocardial infarction undergoing percutaneous revascularization in Sweden. All patients were registered in the Swedish Coronary Angiography and Angioplasty Registry. A total of 55 809 ST-segment-elevation myocardial infarction patients were included. TA use in Sweden substantially decreased after dissemination of TASTE results (from 39.8% to 11.8% during and after TASTE, respectively). Substantial variability in TA use across treating centers was observed before TASTE (TA use ranging from 0% to 70%), but after TASTE both the interhospital variability and the frequency of TA use were markedly reduced. A constant shift in medical practice was seen about 4 months after dissemination of the TASTE trial results. Time trends for all-cause mortality and definite stent thrombosis at 30 days were not associated with variations in TA use ( P values >0.05 using the Granger test). CONCLUSIONS: In Sweden, the results of the TASTE trial were impactful in daily clinical practice and led to a relevant decrease in TA use in ST-segment-elevation myocardial infarction patients undergoing percutaneous revascularization.
  • Kabuki syndrome: international consensus diagnostic criteria.

    Adam, Margaret P; Banka, Siddharth; Bjornsson, Hans T; Bodamer, Olaf; Chudley, Albert E; Harris, Jaqueline; Kawame, Hiroshi; Lanpher, Brendan C; Lindsley, Andrew W; Merla, Giuseppe; Miyake, Noriko; Okamoto, Nobuhiko; Stumpel, Constanze T; Niikawa, Norio; [ 1 ] Univ Washington, Sch Med, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Show more [ 2 ] Univ Manchester, Manchester Ctr Genom Med, Div Evolut & Genom Sci, Sch Biol Sci,Fac Biol Med & Hlth, Manchester, Lancs, England Show more [ 3 ] Manchester Univ NHS Fdn Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England Show more [ 4 ] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Show more [ 5 ] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA Show more [ 6 ] Univ Iceland, Fac Med, Reykjavik, Iceland Show more [ 7 ] Landspitali Univ Hosp, Dept Genet & Mol Med, Reykjavik, Iceland Show more [ 8 ] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Dept Med, Boston, MA 02115 USA Show more [ 9 ] Broad Inst & Harvard Univ, Div Genet & Genom, Cambridge, MA USA Show more [ 10 ] Univ Manitoba, Max Rady Coll Med, Rady Fac Hlth Sci, Dept Pediat & Child Hlth, Winnipeg, MB, Canada Show more [ 11 ] Univ Manitoba, Rady Fac Hlth Sci, Max Rady Coll Med, Dept Biochem & Med Genet, Winnipeg, MB, Canada Show more [ 12 ] Kennedy Krieger Inst, Dept Neurol, Baltimore, MD USA Show more [ 13 ] Kennedy Krieger Inst, Dept Pediat, Baltimore, MD USA Show more [ 14 ] Tohoku Univ, Sch Med, Dept Educ & Training, Sendai, Miyagi, Japan Show more [ 15 ] Mayo Clin, Hlth Sci Res, Ctr Individualized Med, Rochester, MN USA Show more [ 16 ] Mayo Clin, Dept Clin Genom, Rochester, MN USA Show more [ 17 ] Cincinnati Childrens Hosp Med Ctr, Div Allergy & Immunol, Cincinnati, OH 45229 USA Show more [ 18 ] Univ Cincinnati, Dept Pediat, Cincinnati, OH USA Show more [ 19 ] IRCCS Casa Sollievo Sofferenza, Div Med Genet, San Giovanni Rotondo, Italy Show more [ 20 ] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan [ 21 ] Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, Japan Show more [ 22 ] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Show more [ 23 ] Maastricht Univ, Med Ctr, GROW Sch Oncol & Dev Biol, Maastricht, Netherlands Show more [ 24 ] Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Tobetsu, Hokkaido, Japan (BMJ Publishing Group, 2019-02)
    BACKGROUND: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. METHODS: An international group of experts created consensus diagnostic criteria for KS. Systematic PubMed searches returned 70 peer-reviewed publications in which at least one individual with molecularly confirmed KS was reported. The clinical features of individuals with known mutations were reviewed. RESULTS: The authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic variant in KMT2D or KDM6A; and (2) typical dysmorphic features (defined below) at some point of life. Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows with the lateral third displaying notching or sparseness; (2) short columella with depressed nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads. Further criteria for a probable and possible diagnosis, including a table of suggestive clinical features, are presented. CONCLUSION: As targeted therapies for KS are being developed, it is important to be able to make the correct diagnosis, either with or without molecular genetic confirmation.
  • COPD patients' experiences, self-reported needs, and needs-driven strategies to cope with self-management

    Sigurgeirsdottir, Jonina; Halldorsdottir, Sigridur; Arnardottir, Ragnheidur Harpa; Gudmundsson, Gunnar; Bjornsson, Eythor Hreinn; [ 1 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 2 ] Reykjalundur Rehabil Ctr, Mosfellsbaer, Iceland [ 3 ] Univ Akureyri, Sch Hlth Sci, Akureyri, Iceland [ 4 ] Akureyri Hosp, Dept Rehabil, Akureyri, Iceland [ 5 ] Uppsala Univ, Dept Med Sci Resp Allergy & Sleep Res, Uppsala, Sweden Show more [ 6 ] Landspitali Univ Hosp, Dept Resp Med, Reykjavik, Iceland (DOVE Medical Press, 2019-05)
    Background: COPD is a common cause of morbidity and mortality. The aim of this study was to explore patients' experiences, self-reported needs, and needs-driven strategies to cope with self-management of COPD. Patients and methods: In this phenomenological study, 10 participants with mild to severe COPD were interviewed 1-2 times, until data saturation was reached. In total, 15 in-depth interviews were conducted, recorded, transcribed, and analyzed. Results: COPD negatively affected participants' physical and psychosocial well-being, their family relationships, and social life. They described their experiences of COPD like fighting a war without weapons in an ever-shrinking world with a loss of freedom at most levels, always fearing possible breathlessness. Fourteen needs were identified and eight clusters of needs-driven strategies that participants used to cope with self-management of COPD. Coping with the reality of COPD, a life-threatening disease, meant coping with dyspnea, feelings of suffocation, indescribable smoking addiction, anxiety, and lack of knowledge about the disease. Reduced participation in family and social life meant loss of ability to perform usual and treasured activities. Having a positive mindset, accepting help and assuming healthy lifestyle was important, as well as receiving continuous professional health care services. The participants' needs-driven strategies comprised conducting financial arrangements, maintaining hope, and fighting their smoking addiction, seeking knowledge about COPD, thinking differently, facing the broken chain of health care, and struggling with accepting support. Procrastination and avoidance were also evident. Finally, the study also found that participants experienced a perpetuating cycle of dyspnea, anxiety, and fear of breathlessness due to COPD which could lead to more severe dyspnea and even panic attacks. Conclusion: COPD negatively affects patients' physical and psychosocial well-being, family relationships and, social life. Identifying patients' self-reported needs and needs-driven strategies can enable clinicians to empower patients by educating them to improve their self-management.
  • A rare case of right lower quadrant pain

    Teiga, Eduardo; Radosevic, Aleksandar; Sanchez, Juan; Busto, Marcos; Aguilar, Guadalupe; Maiques, Jose; Flores, Daniel; Zugazaga, Ander; Gimeno Beltran, Javier; Bazan, Fernando; [ 1 ] Affidea Grp, IMI, Dept Radiol, Lisbon, Portugal Show more [ 2 ] Hosp del Mar, Dept Radiol, Barcelona, Spain Show more [ 3 ] Hosp del Mar, Dept Anat Pathol, Barcelona, Spain [ 4 ] Landspitali Univ Hosp, Dept Intervent Radiol, Reykjavic, Iceland (BRITISH INST RADIOLOGY, 2019)
    Endometriosis of the appendix is a very rare entity and commonly affects females in childbearing age. Clinical presentation might be confusing varying from asymptomatic to acute abdominal pain and often mimicks acute appendicitis or chronic pelvic pain. Diagnosis is generally made after pathological examination as operative findings are usually non-specific. This condition poses a diagnostic challenge to radiologists and surgeons altogether and we therefore report a case of a middle aged female who presented with both right lower quadrant and right lower back pain. Recent literature is reviewed and radiological findings discussed.
  • Use of granulocyte colony-stimulating factor and risk of relapse in pediatric patients treated for acute myeloid leukemia according to NOPHO-AML 2004 and DB AML-01.

    Løhmann, Ditte J A; Asdahl, Peter H; Abrahamsson, Jonas; Ha, Shau-Yin; Jónsson, Ólafur G; Kaspers, Gertjan J L; Koskenvuo, Minna; Lausen, Birgitte; De Moerloose, Barbara; Palle, Josefine; Zeller, Bernward; Hasle, Henrik; 1 Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark. 2 Department of Hematology, Aarhus University Hospital, Aarhus, Denmark. 3 Institution for Clinical Sciences, Department of Pediatrics, Queen Silvia Children's Hospital, Gothenburg, Sweden. 4 Department of Pediatrics, Queen Mary Hospital and Hong Kong Pediatric Hematology and Oncology Study Group (HKPHOSG), Hong Kong, China. 5 Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland. 6 Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands. 7 Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. 8 Dutch Childhood Oncology Group, The Hague, The Netherlands. 9 Division of Hematology-Oncology and Stem Cell Transplantation, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. 10 Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 11 Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium. 12 Department of Woman´s and Children´s Health, Uppsala University, Uppsala, Sweden. 13 Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway. (Wiley, 2019-06-01)
    Supportive-care use of granulocyte colony-stimulating factor (G-CSF) in pediatric acute myeloid leukemia (AML) remains controversial due to a theoretical increased risk of relapse and limited impact on neutropenic complications. We describe the use of G-CSF in patients treated according to NOPHO-AML 2004 and DB AML-01 and investigated associations with relapse. Patients diagnosed with de novo AML completing the first week of therapy and not treated with hematopoietic stem cell transplantation in the first complete remission were included (n = 367). Information on G-CSF treatment after each course (yes/no) was registered prospectively in the study database and detailed information was gathered retrospectively from each center. Descriptive statistics were used to describe G-CSF use and Cox regression to assess the association between G-CSF and risk of relapse. G-CSF as supportive care was given to 128 (35%) patients after 268 (39%) courses, with a large variation between centers (0-93%). The use decreased with time-the country-adjusted odds ratio was 0.8/diagnostic year (95% confidence interval [CI] 0.7-0.9). The median daily dose was 5 μg/kg (range 3-12 μg/kg) and the median cumulative dose was 75 μg/kg (range 7-1460 μg/kg). Filgrastim was used in 82% of G-CSF administrations and infection was the indication in 44% of G-CSF administrations. G-CSF was associated with increased risk of relapse-the adjusted hazard ratio was 1.5 (95% CI 1.1-2.2). G-CSF as supportive care was used in a third of patients, and use decreased with time. Our results indicate that the use of G-CSF may be associated with an increased risk of relapse.

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