• Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

      Luperchio, Teresa Romeo; Applegate, Carolyn D; Bodamer, Olaf; Bjornsson, Hans Tomas; 1 McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 2 Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 3 Broad Institute of MIT and Harvard University, Cambridge, MA, USA. 4 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 6 Landspitali University Hospital, Reykjavik, Iceland. (Wiley, 2019-12-08)
      We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.
    • Health effects following the Eyjafjallajokull volcanic eruption: a cohort study.

      Carlsen, Hanne Krage; Hauksdottir, Arna; Valdimarsdottir, Unnur Anna; Gíslason, Thorarinn; Einarsdottir, Gunnlaug; Runolfsson, Halldor; Briem, Haraldur; Finnbjornsdottir, Ragnhildur Gudrun; Gudmundsson, Sigurdur; Kolbeinsson, Thorir Björn; et al. (2012)
      The study aimed to determine whether exposure to a volcanic eruption was associated with increased prevalence of physical and/or mental symptoms. Cohort, with non-exposed control group. Natural disasters like volcanic eruptions constitute a major public-health threat. The Icelandic volcano Eyjafjallajökull exposed residents in southern Iceland to continuous ash fall for more than 5 weeks in spring 2010. This study was conducted during November 2010-March 2011, 6-9 months after the Eyjafjallajökull eruption. Adult (18-80 years of age) eruption-exposed South Icelanders (N=1148) and a control population of residents of Skagafjörður, North Iceland (N=510). The participation rate was 72%. Physical symptoms in the previous year (chronic), in the previous month (recent), General Health Questionnaire (GHQ-12) measured psychological morbidity. The likelihood of having symptoms during the last month was higher in the exposed population, such as; tightness in the chest (OR 2.5; 95% CI 1.1 to 5.8), cough (OR 2.6; 95% CI 1.7 to 3.9), phlegm (OR 2.1; 95% CI 1.3 to 3.2), eye irritation (OR 2.9; 95% CI 2.0 to 4.1) and psychological morbidity symptoms (OR 1.3; 95% CI 1.0 to 1.7). Respiratory symptoms during the last 12 months were also more common in the exposed population; cough (OR 2.2; 95% CI 1.6 to 2.9), dyspnoea (OR 1.6; 95% CI 1.1 to 2.3), although the prevalence of underlying asthma and heart disease was similar. Twice as many in the exposed population had two or more symptoms from nose, eyes or upper-respiratory tract (24% vs 13%, p<0.001); these individuals were also more likely to experience psychological morbidity (OR 4.7; 95% CI 3.4 to 6.5) compared with individuals with no symptoms. Most symptoms exhibited a dose-response pattern within the exposed population, corresponding to low, medium and high exposure to the eruption. 6-9 months after the Eyjafjallajökull eruption, residents living in the exposed area, particularly those closest to the volcano, had markedly increased prevalence of various physical symptoms. A portion of the exposed population reported multiple symptoms and may be at risk for long-term physical and psychological morbidity. Studies of long-term consequences are therefore warranted.
    • Iceland's national information infrastructure

      Olafsson, Sveinn (Academic Press, 1999-11-01)
      This article discusses Iceland's national information infrastructure in the year 2000. It focuses on the current information policy and legislation of the country. It looks at this policy as it is presented in government publications from the last 5 years and evaluates its effects, with particular regard to the education, culture and health sectors. It describes the foundation of a nationwide health database in Iceland, which was established by an Act of Parliament taking force on 1 January 1999. The idea for this database came from deCODE, a company that proposes to make use of the homogeneity and the vast genealogical information of the Icelandic nation to develop better drugs for common diseases. The company is a genomics research company, and is currently working with Hoffmann La-Roche. It has gained a 12-year monopoly on building such a database, the formation of which brings up many ethical questions, and also new possibilities for health management.
    • Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.

      Dereksson, Kristjan; Kjartansson, Sveinn; Hjartardóttir, Hulda; Arngrimsson, Reynir; Pediatrics Department, Skåne University Hospital, Malmö, Sweden. (2012)
      Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have been found to develop neonatal asphyxia due to occlusions in the bronchial tree from debris in the amniotic fluid. At 31 weeks of gestation, separation of amniotic and chorionic membranes was identified as well as polyhydramnion. The child was born 2 weeks later, with thickened skin with a granular appearance and required immediate ventilation and intensive care. At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin infections, food intolerance and periods of wheezing. Prenatal observation of separation of foetal membranes or dense amniotic fluid may be signs of IPS and severe complication immediately after birth.
    • Inflammatory Breast Cancer: What surgeons need to know.

      Rafnsdóttir, Svanheiður Lóa; Audisio, Riccardo A; 1 Oncoplastic Breast Surgery, Department of Surgery, Landspitali University Hospital, 13-A Hringbraut, IS-101, Reykjavik, Iceland; Department of Surgery, Institute of Clinical Sciences, Sahlgrenska University Hospital, Blå Stråket 5, 413 45, Göteborg, Sweden. Electronic address: svanhra@landspitali.is. 2 Department of Surgery, Institute of Clinical Sciences, Sahlgrenska University Hospital, Blå Stråket 5, 413 45, Göteborg, Sweden. Electronic address: raudisio@doctors.org.uk. (Elsevier, 2018-01-01)
      Strict criteria to identify Inflammatory Breast Cancer (IBC) have been made available - these are based on pathological as well as clinical observations. It is mandatory to confirm the criteria used in any further report. Scientific evidence accumulated so far is confusing, and unclear therefore no hard conclusion can be drawn from the available literature on the management of IBC. The advent of new medications results into an up-to-date management and different outcomes. It is mandatory to follow these criteria if reliable guidelines are to be made available in the next future.
    • International comparisons and holistic patient care.

      Zeitlin, J; Durox, M; Macfarlane, A; Alexander, S; Heller, G; Loghi, M; Nijhuis, J; Sól Ólafsdóttir, H; Mierzejewska, E; Gissler, M; et al. (Wiley, 2021-06-05)
    • Introducing the ReDO-TM programme and the ValMO-model in the Icelandic context

      Erlandsson, Lena-Karin; Halmstad University Sweden (Iðjuþjálfafélag Íslands, 2019)
    • The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity.

      Foxler, Daniel E; Bridge, Katherine S; James, Victoria; Webb, Thomas M; Mee, Maureen; Wong, Sybil C K; Feng, Yunfeng; Constantin-Teodosiu, Dumitru; Petursdottir, Thorgunnur Eyfjord; Bjornsson, Johannes; et al. (2012-02)
      There are three prolyl hydroxylases (PHD1, 2 and 3) that regulate the hypoxia-inducible factors (HIFs), the master transcriptional regulators that respond to changes in intracellular O(2) tension. In high O(2) tension (normoxia) the PHDs hydroxylate two conserved proline residues on HIF-1α, which leads to binding of the von Hippel-Lindau (VHL) tumour suppressor, the recognition component of a ubiquitin-ligase complex, initiating HIF-1α ubiquitylation and degradation. However, it is not known whether PHDs and VHL act separately to exert their enzymatic activities on HIF-1α or as a multiprotein complex. Here we show that the tumour suppressor protein LIMD1 (LIM domain-containing protein) acts as a molecular scaffold, simultaneously binding the PHDs and VHL, thereby assembling a PHD-LIMD1-VHL protein complex and creating an enzymatic niche that enables efficient degradation of HIF-1α. Depletion of endogenous LIMD1 increases HIF-1α levels and transcriptional activity in both normoxia and hypoxia. Conversely, LIMD1 expression downregulates HIF-1 transcriptional activity in a manner depending on PHD and 26S proteasome activities. LIMD1 family member proteins Ajuba and WTIP also bind to VHL and PHDs 1 and 3, indicating that these LIM domain-containing proteins represent a previously unrecognized group of hypoxic regulators.
    • Long-term Outcome of Implantable Cardioverter/Defibrillator Lead Failure.

      Davidsson, Gustav Arnar; Jonsdottir, Gudlaug M; Oddsson, Hjortur; Lund, Sigrun H; Arnar, David O; 1Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 2Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. (American Medical Association, 2019-12-20)
      This study compares outcomes of a recalled implantable cardioverter/defibrillator lead with a control lead in individuals in Iceland.
    • Low aspirin use and high prevalence of pre-eclampsia risk factors among pregnant women in a multinational SLE inception cohort.

      Mendel, Arielle; Bernatsky, Sasha B; Hanly, John G; Urowitz, Murray B; Clarke, Ann Elaine; Romero-Diaz, Juanita; Gordon, Caroline; Bae, Sang-Cheol; Wallace, Daniel J; Merrill, Joan T; et al. (BMJ Publishing Group, 2019-07)
    • No transmission of SARS-CoV-2 to 23 healthcare professionals involved in advanced life support of COVID-19 patient - association with low viral RNA in respiratory specimens.

      Ingason, Arnar B; Jóhannesson, Jón M; Halldórsson, Jón T; Júlíusson, Unnsteinn I; Halldórsdóttir, Áslaug; Böðvarsson, Ásgeir; 1Husavik Hospital and Health Care Center, Husavik, Iceland. 2University of Iceland, Faculty of Medicine, Iceland. 3Department of Internal Medicine, Landspitali University Hospital, Iceland. 4Akureyri Primary Health Care Center, Akureyri, Iceland. (Taylor & Francis, 2020-08-21)
    • One-way endobronchial valve for bronchopleural fistula after necrotizing pneumonia.

      Gudbjartsson, Tomas; Helgadottir, Solveig; Ek, Lars (Chen Yuan, Republic of Singapore : Asia Pub. EXchange,, 2013-08)
    • Port-site Metastases After Robot-assisted Radical Cystectomy: Is There a Publication Bias?

      Jancke, Georg; Aljabery, Firas; Gudjonsson, Sigurdur; Hosseini, Abolfazl; Sörenby, Anne; Wiklund, Peter; Liedberg, Fredrik; [ 1 ] Skane Univ Hosp, Dept Urol, Jan Waldenstroms Gata 7, SE-20502 Malmo, Sweden Show more [ 2 ] Lund Univ, Dept Translat Med, Malmo, Sweden Show more [ 3 ] Linkoping Univ Hosp, Dept Urol, Linkoping, Sweden Show more [ 4 ] Landspitali Univ Hosp, Dept Urol, Reykjavik, Iceland Show more [ 5 ] Karolinska Univ Hosp, Dept Urol, Stockholm, Sweden (Elsevier Science, 2018-04)
    • Prevalence and outcome of gastrointestinal bleeding and use of acid suppressants in acutely ill adult intensive care patients.

      Krag, Mette; Perner, Anders; Wetterslev, Jørn; Wise, Matt P; Borthwick, Mark; Bendel, Stepani; McArthur, Colin; Cook, Deborah; Nielsen, Niklas; Pelosi, Paolo; et al. (Springer, 2015-05)
      To describe the prevalence of, risk factors for, and prognostic importance of gastrointestinal (GI) bleeding and use of acid suppressants in acutely ill adult intensive care patients.
    • The Process of Writing When English is Your Second Language

      Svavarsdottir, Erla Kolbrún; Faculty of Nursing, School of Health Sciences, University of Iceland (UI) and at Landspitali University Hospital (LUH) (Wiley-Blackwell, 2016-10)
    • Reply to Amit Bansal, Ruchir Maheshwari, and Anant Kumar's Letter to the Editor re: Fredrik Liedberg, Petter Kollberg, Marie Allerbo, et al. Preventing Parastomal Hernia After Ileal Conduit by the Use of a Prophylactic Mesh: A Randomised Study. Eur Urol 2020;78:757-63.

      Liedberg, Fredrik; Kollberg, Petter; Allerbo, Marie; Baseckas, Gediminas; Brändstedt, Johan; Gudjonsson, Sigurdur; Hagberg, Oskar; Håkansson, Ulf; Jerlström, Tomas; Löfgren, Annica; et al. (Elsevier, 2020-12-31)
    • Reply to Deepansh Dalela, Isaac Palma-Zamora, and Craig Rogers' Letter to the Editor re: Fredrick Leidberg, Petter Kollberg, Marie Allerbo, et al. Preventing Parastomal Hernia After Ileal Conduit by the Use of a Prophylactic Mesh: A Randomised Study. Eur Urol 2020;78:757-63.

      Liedberg, Fredrik; Kollberg, Petter; Allerbo, Marie; Baseckas, Gediminas; Brändstedt, Johan; Gudjonsson, Sigurdur; Hagberg, Oskar; Håkansson, Ulf; Jerlström, Tomas; Löfgren, Annica; et al. (Elsevier, 2021-01-25)
    • Scandinavian clinical practice guideline on fluid and drug therapy in adults with acute respiratory distress syndrome.

      Claesson, J; Freundlich, M; Gunnarsson, I; Laake, J H; M?ller, M H; Vandvik, P O; Varpula, T; Aasmundstad, T A; [ 1 ] Umea Univ, Anaesthesiol & Intens Care Med, Umea, Sweden [ 2 ] Univ Hosp Umea, Umea, Sweden [ 3 ] Aalborg Univ Hosp, Anaesthesiol, Aalborg, Denmark [ 4 ] Landspitali Univ Hosp, Anaesthesiol & Intens Care Med, Reykjavik, Iceland ??Organization-Enhanced Name(s) ???? Landspitali National University Hospital [ 5 ] Oslo Univ Hosp, Div Crit Care, Anaesthesiol, Oslo, Norway [ 6 ] Rigshosp, Copenhagen Univ Hosp, Intens Care 4131, Copenhagen, Denmark [ 7 ] Innlandet Hosp Trust Div Gjovik, Med, Gjovik, Norway [ 8 ] Norwegian Knowledge Ctr Hlth Serv, Oslo, Norway [ 9 ] Helsinki Univ Hosp, Intens Care Med, Helsinki, Finland (Wiley-Blackwell, 2016-07)
      The objective of the Scandinavian Society of Anaesthesiology and Intensive Care Medicine (SSAI) task force on fluid and drug therapy in adults with acute respiratory distress syndrome (ARDS) was to provide clinically relevant, evidence-based treatment recommendations according to standards for trustworthy guidelines.
    • A selective deficit for reading vowels in a letter-by-letter reader

      Jonsdottir, M K (Sveriges neuropsykologers förening, 2004-11)
      BM, a patient with fluent aphasia and severe alexia without agraphia is presented. He manifests a clear word length effect which is the hallmark of letter-by-letter reading. However, this letter-by-letter reader comes with an unusual twist, namely a selective difficulty in reading vowels, both in words and non-words. BM´s reading was not influenced by word class, imageability or word frequency. Only one other similar case is known in the literature.
    • Self-reported exposure to traffic pollution in relation to daytime sleepiness and habitual snoring: a questionnaire study in seven North-European cities.

      Gislason, Thorarinn; Bertelsen, Randi J; Real, Francisco Gomez; Sigsgaard, Torben; Franklin, Karl A; Lindberg, Eva; Janson, Christer; Arnardottir, Erna Sif; Hellgren, Johan; Benediktsdottir, Bryndis; et al. (Elsevier Science, 2016-08)
      Little is known about associations between traffic exposure and sleep disturbances. We examined if self-reported exposure to traffic is associated with habitual snoring and daytime sleepiness in a general population.