• Lyme-sjúkdómur á Íslandi - faraldsfræði á árunum 2011-2015

      Hannes Bjarki Vigfússon; Hörður Snævar Harðarson; Björn Rúnar Lúðvíksson; Ólafur Guðlaugsson; 1 Sýkla- og veirufræðideild Landspítala, 2 barnadeild Hringsins,3 ónæmisfræðideild Landspítala, 4 læknadeild Háskóla Íslands, 5smitsjúkdómadeild Landspítala. (Læknafélag Íslands, Læknafélag Reykjavíkur, 2019-02)
      Inngangur: Lyme-sjúkdómur stafar af sýkingu með Borrelia burgdorferi sensu latu (B. burgdorferi sl.) og smitast með biti Ixodes mítla. Sjúkdómurinn hefur ekki verið talinn landlægur á Íslandi og aldrei hefur verið lýst tilfelli af innlendum uppruna. Engar rannsóknir hafa verið gerðar á Lyme-sjúkdómi hérlendis. Markmið rannsóknarinnar var að skoða faraldsfræði Lyme-sjúkdóms á Íslandi með sérstakri áherslu á það hvort innlent smit hafi átt sér stað. Efniviður og aðferðir: Rannsóknin náði til allra einstaklinga á Íslandi sem áttu mælingu á mótefnum gegn B. burgdorferi sl. eða höfðu fengið greininguna Lyme-sjúkdómur (ICD-10, A69.2) á Landspítala á árunum 2011-2015. Klínískum upplýsingum var safnað úr rafrænni sjúkraskrá og gagnagrunni sýkla- og veirufræðideildar Landspítala. Niðurstöður: 501 einstaklingur átti mælingu á mótefnum gegn B. burgdorferi sl. á rannsóknartímabilinu og 11 einstaklingar voru greindir með Lyme-sjúkdóm á klínískum forsendum eingöngu. 33 einstaklingar uppfylltu greiningarskilmerki fyrir staðfestu tilfelli af Lyme-sjúkdómi. 32 (97%) einstaklingar voru með erythema migrans og einn (3%) einstaklingur var með Lyme-sjúkdóm í taugakerfi. Að meðaltali greindust 6,6 tilfelli á ári (tvö tilfelli á 100.000 íbúa/ári) og áttu öll tilfellin sér erlendan uppruna. Ályktanir: Lyme-sjúkdómur er sjaldgæfur á Íslandi. Árlega greinast að meðaltali 6-7 tilfelli af sjúkdómnum hérlendis og er fyrst og fremst um að ræða staðbundnar sýkingar með erythema migrans útbrotum. Ekki fannst neitt tilfelli sem hægt er að segja að eigi sér innlendan uppruna og virðist tilfellum af sjúkdómnum ekki hafa farið fjölgandi seinustu árin.
    • Antiepileptic drugs are associated with central hypothyroidism.

      Einarsdottir, Margret Jona; Olafsson, Elias; Sigurjonsdottir, Helga Agusta; 1 Department of Medicine, Landspitali University Hospital, Reykjavík, Iceland. 2 Department of Neurology, Landspitali University Hospital, Reykjavik, Iceland. 3 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 4 Department of Endocrinology, Landspitali University Hospital, Reykjavik, Iceland. (Wiley, 2019-01-01)
      Studies in children have shown an increased frequency of central hypothyroidism (CH) with long-term use of antiepileptic drugs (AEDs). The aim of this study was to search for CH in adults treated with AEDs and find whether the type of AEDs used matters. Adult epileptic patients treated at the neurology outpatient clinic at Landspitali University Hospital (LSH) from 1998 to 2011 were included. Patients were invited for a blood test if serum levels for TSH (s-TSH) or free-T We identified 165 patients (92 women), mean age 45.6 (±15.5, range: 20-92) years. The mean s-fT 21% of patients treated with AEDs had CH, more often patients taking carbamazepine or oxacarbazepine, and more often women. The s-fT
    • Drawing forward family strengths in short therapeutic conversations from a psychiatric nursing perspective.

      Sveinbjarnardottir, Eydis Kristin; Svavarsdottir, Erla Kolbrun; 1 Faculty of Nursing, School of Health Sciences, University of Akureyri, Akureyri, Iceland. 2 Faculty of Nursing, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 3 Center of Family Nursing Research and Development, Landspitali National University Hospital, Reykjavik, Iceland. (Hillsdale, N. J., Nursing Publications, 2019-01-01)
      The aim of the narrative is to describe the therapeutic process and experience from a psychiatric nursing perspective, in therapeutic communication, with a father and his son in acute psychiatry. In this case scenario, the Family Strength-Oriented Therapeutic Conversation Intervention (FAM-SOTC Intervention) was used. The FAM-SOTC Intervention was found to be beneficial for the father-son relationship. It is encouraging for nurses in acute psychiatry to know that three short therapeutic conversations can make a difference within the family system. FAM-SOTC seemed to offer cognitive and emotional support to the father-and-son dyad.
    • Hearing Status in Survivors of Childhood Acute Myeloid Leukemia Treated With Chemotherapy Only: A NOPHO-AML Study.

      Skou, Anne-Sofie; Olsen, Steen Ø; Nielsen, Lars H; Glosli, Heidi; Jahnukainen, Kirsi; Jarfelt, Marianne; Jónmundsson, Guðmundur K; Malmros, Johan; Nysom, Karsten; Hasle, Henrik; 1 Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus. 2 Departments of Otorhinolaryngology, Head and Neck Surgery, and Audiology. 3 Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway. 4 Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland. 5 Department of Pediatric Oncology, The Queen Silvia Children's Hospital, Gothenburg. 6 Department of Pediatrics, Landspitalinn University Hospital, Reykjavik, Iceland. 7 Department of Pediatric Oncology, Karolinska University Hospital. 8 Department of Women´s and Children's Health, Karolinska Institutet, Stockholm, Sweden. 9 Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark. (Lippincott Williams & Wilkins, 2019-01-01)
      As more children survive acute myeloid leukemia (AML) it is increasingly important to assess possible late effects of the intensive treatment. Hearing loss has only sporadically been reported in survivors of childhood AML. We assessed hearing status in survivors of childhood AML treated with chemotherapy alone according to 3 consecutive NOPHO-AML trials. A population-based cohort of children treated according to the NOPHO-AML-84, NOPHO-AML-88, and NOPHO-AML-93 trials included 137 eligible survivors among whom 101 (74%) completed a questionnaire and 99 (72%) had otologic and audiologic examination performed including otoscopy (72%), pure tone audiometry (70%), and tympanometry (60%). Eighty-four of 93 (90%) eligible sibling controls completed a similar questionnaire. At a median of 11 years (range, 4 to 25) after diagnosis, hearing disorders were rare in survivors of childhood AML and in sibling controls, with no significant differences. None had severe or profound hearing loss diagnosed at audiometry. Audiometry detected a subclinical hearing loss ranging from slight to moderate in 19% of the survivors, 5% had low-frequency hearing loss, and 17% had high-frequency hearing loss. The frequency of hearing disorders was low, and hearing thresholds in survivors of childhood AML were similar to background populations of comparable age.
    • Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.

      Singer, Christian F; Balmaña, Judith; Bürki, Nicole; Delaloge, Suzette; Filieri, Maria Elisabetta; Gerdes, Anna-Marie; Grindedal, Eli Marie; Han, Sileni; Johansson, Oskar; Kaufman, Bella; Krajc, Mateja; Loman, Niklas; Olah, Edith; Paluch-Shimon, Shani; Plavetic, Natalija Dedic; Pohlodek, Kamil; Rhiem, Kerstin; Teixeira, Manuel; Evans, D Gareth; 1 Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna, Austria. Electronic address: christian.singer@meduniwien.ac.at. 2 Medical Oncology Department, Hospital Vall d'Hebron, Vall d'Hebron, Institute of Oncology, Universitat Autònoma de Barcelona, Barcelona, Spain. 3 Department of Gynecology and Obstetrics, University Hospital Basel (UHB), Spitalstrasse 21, 4031, Basel, Switzerland. 4 Department of Cancer Medicine, Gustave Roussy, 114 Rue Edouard Vaillant, 94800 Villejuif, France. 5 Department of Medical Oncology, University Hospital of Modena, Via del Pozzo, Modena, Italy. 6 Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. 7 Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. 8 Department of Gynecology and Obstetrics, UZ Leuven, Leuven, Belgium. 9 Landspitali-the National University Hospital of Iceland, Reykjavik 101, Iceland. 10 Breast Oncology Institute, Sheba Medical Center, Tel Hashomer, Israel. 11 Institute of Oncology Ljubljana, Slovenia, Zaloska 2, 1000 Ljubljana, Slovenia. 12 Department of Clinical Sciences, Division of Oncology and Pathology, Lund University Hospital, 221 85 Lund, Sweden. 13 Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. 14 Shaare Zedek Medical Centre, Jerusalem, Israel. 15 Department of Oncology, Division of Medical Oncology, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia. 16 Second Department of Gynecology and Obstetrics, Comenius University of Bratislava, Faculty of Medicine, 82606 Bratislava, Slovakia. 17 Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital of Cologne, D-50931 Cologne, Germany. 18 Department of Genetics, Portuguese Oncology Institute, Porto, Portugal. 19 Department of Genomic Medicine, Division of Evolution and Genomic Science, University of Manchester, MAHSC, St Mary's Hospital, Manchester M13 9WL, United Kingdom. (Elsevier Science, 2019-01-01)
      An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. The experts agreed that, with the increasing availability of high-throughput testing platforms and the registration of poly-ADP-ribose-polymerase inhibitors, the need for genetic counselling and testing will rapidly increase in the near future. Consequently, the already existing shortage of genetic counsellors is expected to worsen and to compromise the quality of care particularly in individuals and families with suspected or proven hereditary breast or ovarian cancer. Increasing educational efforts within the breast cancer caregiver community may alleviate this limitation by enabling all involved specialities to perform genetic counselling. In the therapeutic setting, for patients with a clinical suspicion of genetic susceptibility and if the results may have an immediate impact on the therapeutic strategy, the majority voted that BRCA1/2 testing should be performed after histological diagnosis of breast cancer, regardless of oestrogen receptor and human epidermal growth factor receptor 2 (HER2) status. Experts also agreed that, in the predictive and therapeutic setting, genetic testing should be limited to individuals with a personal or family history suggestive of a BRCA1/2 pathogenic variant and should also include high-risk actionable genes beyond BRCA1/2. Of high-risk actionable genes, all pathological variants (i.e. class IV and V) should be reported; class III variants of unknown significance, should be reported provided that the current lack of clinical utility of the variant is expressly stated. Genetic counselling should always address the possibility that already tested individuals might be re-contacted in case new information on a particular variant results in a re-classification.
    • Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

      Demontis, Ditte; Walters, Raymond K; Martin, Joanna; Mattheisen, Manuel; Als, Thomas D; Agerbo, Esben; Baldursson, Gísli; Belliveau, Rich; Bybjerg-Grauholm, Jonas; Bækvad-Hansen, Marie; Cerrato, Felecia; Chambert, Kimberly; Churchhouse, Claire; Dumont, Ashley; Eriksson, Nicholas; Gandal, Michael; Goldstein, Jacqueline I; Grasby, Katrina L; Grove, Jakob; Gudmundsson, Olafur O; Hansen, Christine S; Hauberg, Mads Engel; Hollegaard, Mads V; Howrigan, Daniel P; Huang, Hailiang; Maller, Julian B; Martin, Alicia R; Martin, Nicholas G; Moran, Jennifer; Pallesen, Jonatan; Palmer, Duncan S; Pedersen, Carsten Bøcker; Pedersen, Marianne Giørtz; Poterba, Timothy; Poulsen, Jesper Buchhave; Ripke, Stephan; Robinson, Elise B; Satterstrom, F Kyle; Stefansson, Hreinn; Stevens, Christine; Turley, Patrick; Walters, G Bragi; Won, Hyejung; Wright, Margaret J; Andreassen, Ole A; Asherson, Philip; Burton, Christie L; Boomsma, Dorret I; Cormand, Bru; Dalsgaard, Søren; Franke, Barbara; Gelernter, Joel; Geschwind, Daniel; Hakonarson, Hakon; Haavik, Jan; Kranzler, Henry R; Kuntsi, Jonna; Langley, Kate; Lesch, Klaus-Peter; Middeldorp, Christel; Reif, Andreas; Rohde, Luis Augusto; Roussos, Panos; Schachar, Russell; Sklar, Pamela; Sonuga-Barke, Edmund J S; Sullivan, Patrick F; Thapar, Anita; Tung, Joyce Y; Waldman, Irwin D; Medland, Sarah E; Stefansson, Kari; Nordentoft, Merete; Hougaard, David M; Werge, Thomas; Mors, Ole; Mortensen, Preben Bo; Daly, Mark J; Faraone, Stephen V; Børglum, Anders D; Neale, Benjamin M; 1 The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark. 2 Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark. 3 Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark. 4 Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. 5 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. 6 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. 7 MRC Centre for Neuropsychiatric Genetics & Genomics, School of Medicine, Cardiff University, Cardiff, UK. 8 Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. 9 Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden. 10 Department of Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany. 11 National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark. 12 Centre for Integrated Register-based Research, Aarhus University, Aarhus, Denmark. 13 Department of Child and Adolescent Psychiatry, National University Hospital, Reykjavik, Iceland. 14 Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark. 15 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. 16 23andMe, Inc, Mountain View, CA, USA. 17 Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. 18 Center for Autism Research and Treatment and Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA. 19 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. 20 Department of Psychiatry, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA. 21 QIMR Berghofer Medical Research Institute, Brisbane, Australia. 22 Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark. 23 deCODE genetics/Amgen, Reykjavík, Iceland. 24 Faculty of Medicine, University of Iceland, Reykjavík, Iceland. 25 Institute of Biological Psychiatry, MHC Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark. 26 Genomics plc, Oxford, UK. 27 Department of Psychiatry and Psychotherapy, Charité - Universitätsmedizin, Berlin, Germany. 28 Department of Epidemiology, Harvard Chan School of Public Health, Boston, MA, USA. 29 Queensland Brain Institute, University of Queensland, Brisbane, Australia. 30 NORMENT KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, University of Oslo and Oslo University Hospital, Oslo, Norway. 31 Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. 32 Psychiatry, Neurosciences and Mental Health, The Hospital for Sick Children, University of Toronto, Toronto, Canada. 33 Department of Biological Psychology, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands. 34 EMGO Institute for Health and Care Research, Amsterdam, The Netherlands. 35 Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain. 36 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. 37 Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Catalonia, Spain. 38 Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Barcelona, Catalonia, Spain. 39 Departments of Human Genetics (855) and Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands. 40 Department of Psychiatry, Genetics, and Neuroscience, Yale University School of Medicine, New Haven, CT, USA. 41 Veterans Affairs Connecticut Healthcare Center, West Haven, CT, USA. 42 The Center for Applied Genomics, The Children´s Hospital of Philadelphia, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. 43 K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway. 44 Haukeland University Hospital, Bergen, Norway. 45 Department of Psychiatry, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. 46 Veterans Integrated Service Network (VISN4) Mental Illness Research, Education, and Clinical Center (MIRECC), Crescenz VA Medical Center, Philadephia, PA, USA. 47 School of Psychology, Cardiff University, Cardiff, UK. 48 Division of Molecular Psychiatry, Center of Mental Health, University of Wuerzburg, Wuerzburg, Germany. 49 Department of Neuroscience, School for Mental Health and Neuroscience (MHENS), Maastricht University, Maastricht, The Netherlands. 50 Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, I.M. Sechenov First Moscow State Medical University, Moscow, Russia. 51 Child Health Research Centre, University of Queensland, Brisbane, Australia. 52 Child and Youth Mental Health Service, Children's Health Queensland Hospital and Health Service, Brisbane, Australia. 53 Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt am Main, Germany. 54 Department of Psychiatry, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. 55 ADHD Outpatient Clinic, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. 56 Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 57 Institute for Genomics and Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 58 Friedman Brain Institute, Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 59 Mental Illness Research Education and Clinical Center (MIRECC), James J. Peters VA Medical Center, Bronx, New York, USA. 60 Institute of Psychiatry, Psychology & Neuroscience, Kings College, London, UK. 61 Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA. 62 Department of Psychology, Emory University, Atlanta, GA, USA. 63 Mental Health Services in the Capital Region of Denmark, Mental Health Center Copenhagen, University of Copenhagen, Copenhagen, Denmark. 64 Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. 65 Psychosis Research Unit, Aarhus University Hospital, Risskov, Denmark. 66 Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland. 67 Departments of Psychiatry and Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY, USA. sfaraone@childpsychresearch.org. 68 The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark. anders@biomed.au.dk. 69 Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark. anders@biomed.au.dk. 70 Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark. anders@biomed.au.dk. 71 Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. bneale@broadinstitute.org. 72 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. bneale@broadinstitute.org. 73 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. bneale@broadinstitute.org. (Nature Publishing Group, 2019-01-01)
      Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.
    • Attributable deaths and disability-adjusted life-years caused by infections with antibiotic-resistant bacteria in the EU and the European Economic Area in 2015: a population-level modelling analysis.

      Cassini, Alessandro; Högberg, Liselotte Diaz; Plachouras, Diamantis; Quattrocchi, Annalisa; Hoxha, Ana; Simonsen, Gunnar Skov; Colomb-Cotinat, Mélanie; Kretzschmar, Mirjam E; Devleesschauwer, Brecht; Cecchini, Michele; Ouakrim, Driss Ait; Oliveira, Tiago Cravo; Struelens, Marc J; Suetens, Carl; Monnet, Dominique L; Gudlaugasson, Olafur; [ 1 ] European Ctr Dis Prevent & Control, S-16973 Solna, Sweden Show more [ 2 ] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands Show more [ 3 ] Univ Hosp North Norway, Tromso, Norway Show more [ 4 ] UiT Arctic Univ Norway, Res Grp Host Microbe Interact, Fac Hlth Sci, Tromso, Norway Show more [ 5 ] Sante Publ France, St Maurice, France Show more [ 6 ] Natl Inst Publ Hlth & Environm RIVM, Ctr Infect Dis Control, Bilthoven, Netherlands [ 7 ] Sciensano, Dept Epidemiol & Publ Hlth, Brussels, Belgium Show more [ 8 ] Univ Ghent, Fac Vet Med, Dept Vet Publ Hlth & Food Safety, Merelbeke, Belgium [ 9 ] Org Econ Cooperat & Dev, Paris, France [ 10 ] Fed Minist Hlth & Women, Vienna, Austria [ 11 ] Sciensano, Brussels, Belgium [ 12 ] Natl Ctr Infect & Parasit Dis, Sofia, Bulgaria [ 13 ] Univ Hosp Infect Dis, Zagreb, Croatia Show more [ 14 ] Univ Zagreb, Univ Hosp Ctr Zagreb, Sch Med, Zagreb, Croatia [ 15 ] Amer Med Ctr, Nicosia, Cyprus Show more [ 16 ] Natl Inst Publ Hlth, Prague, Czech Republic Show more [ 17 ] Charles Univ Prague, Univ Hosp, Hradec Kralove, Czech Republic Show more [ 18 ] Charles Univ Prague, Fac Med, Hradec Kralove, Czech Republic Show more [ 19 ] Statens Serum Inst, Copenhagen, Denmark [ 20 ] West Tallinn Cent Hosp, Estonia & Hlth Board, Tallinn, Estonia [ 21 ] East Tallinn Cent Hosp, Tallinn, Estonia Show more [ 22 ] Natl Inst Hlth & Welf THL, Helsinki, Finland [ 23 ] French Publ Hlth Agcy, Paris, France Show more [ 24 ] Robert Koch Inst, Berlin, Germany Show more [ 25 ] Univ Athens, Athens, Greece Show more [ 26 ] Univ Hosp Heraklion, Iraklion, Greece Show more [ 27 ] Univ Athens, Med Sch, Athens, Greece [ 28 ] Hellen Ctr Dis Control & Prevent, Athens, Greece [ 29 ] Natl Publ Hlth Inst, Budapest, Hungary [ 30 ] Minist Human Capac, Budapest, Hungary Show more [ 31 ] Landspitali Univ Hosp, Reykjavik, Iceland Show more [ 32 ] Univ Iceland, Reykjavik, Iceland [ 33 ] Hlth Protect Surveillance Ctr, Dublin, Ireland Show more [ 34 ] Ist Super Sanita, Rome, Italy [ 35 ] Reg Agcy Hlth & Social Care Emilia Romagna, Bologna, Italy Show more [ 36 ] Univ Latvia, Pauls Stradins Clin Univ Hosp, Riga, Latvia [ 37 ] Ctr Publ Hlth Technol, Inst Hyg, Vilnius, Lithuania [ 38 ] Natl Hlth Lab, Luxembourg, Luxembourg [ 39 ] Mater Dei Hosp, Msida, Malta Show more [ 40 ] Univ Malta, Msida, Malta Show more [ 41 ] Natl Inst Publ Hlth & Environm RIVM, Bilthoven, Netherlands Show more [ 42 ] Norwegian Inst Publ Hlth, Oslo, Norway Show more [ 43 ] Natl Med Inst, Warsaw, Poland Show more [ 44 ] Nicolaus Copernicus Univ, Torun, Poland Show more [ 45 ] Ludwik Rydygier Coll Med, Bydgoszcz, Poland Show more [ 46 ] Natl Med Inst, Warsaw, Poland [ 47 ] Directorate Gen Hlth, Lisbon, Portugal Show more [ 48 ] Natl Inst Hlth Dr Ricardo Jorge, Lisbon, Portugal Show more [ 49 ] Natl Inst Infect Dis Prof Dr Matei Bals, Bucharest, Romania [ 50 ] Natl Inst Publ Hlth, Bucharest, Romania [ 51 ] Louis Pasteur Univ Hosp, Kosice, Slovakia [ 52 ] Publ Hlth Author, Trencin, Slovakia Show more [ 53 ] Alexander Dubcek Univ, Trencin, Slovakia [ 54 ] Natl Inst Publ Hlth, Ljubljana, Slovenia Show more [ 55 ] Hosp Univ Puerta Hierro Majadahonda, Madrid, Spain Show more [ 56 ] Inst Salud Carlos III, Madrid, Spain [ 57 ] Publ Hlth Agcy Sweden, Stockholm, Sweden [ 58 ] Hlth Protect Scotland, Glasgow, Lanark, Scotland Show more [ 59 ] Glasgow Caledonian Univ, Glasgow, Lanark, Scotland (Elsevier Science, 2019-01-01)
      Infections due to antibiotic-resistant bacteria are threatening modern health care. However, estimating their incidence, complications, and attributable mortality is challenging. We aimed to estimate the burden of infections caused by antibiotic-resistant bacteria of public health concern in countries of the EU and European Economic Area (EEA) in 2015, measured in number of cases, attributable deaths, and disability-adjusted life-years (DALYs). We estimated the incidence of infections with 16 antibiotic resistance-bacterium combinations from European Antimicrobial Resistance Surveillance Network (EARS-Net) 2015 data that was country-corrected for population coverage. We multiplied the number of bloodstream infections (BSIs) by a conversion factor derived from the European Centre for Disease Prevention and Control point prevalence survey of health-care-associated infections in European acute care hospitals in 2011-12 to estimate the number of non-BSIs. We developed disease outcome models for five types of infection on the basis of systematic reviews of the literature. From EARS-Net data collected between Jan 1, 2015, and Dec 31, 2015, we estimated 671 689 (95% uncertainty interval [UI] 583 148-763 966) infections with antibiotic-resistant bacteria, of which 63·5% (426 277 of 671 689) were associated with health care. These infections accounted for an estimated 33 110 (28 480-38 430) attributable deaths and 874 541 (768 837-989 068) DALYs. The burden for the EU and EEA was highest in infants (aged <1 year) and people aged 65 years or older, had increased since 2007, and was highest in Italy and Greece. Our results present the health burden of five types of infection with antibiotic-resistant bacteria expressed, for the first time, in DALYs. The estimated burden of infections with antibiotic-resistant bacteria in the EU and EEA is substantial compared with that of other infectious diseases, and has increased since 2007. Our burden estimates provide useful information for public health decision-makers prioritising interventions for infectious diseases.
    • Development of a dietary screening questionnaire to predict excessive weight gain in pregnancy.

      Hrolfsdottir, Laufey; Halldorsson, Thorhallur I; Birgisdottir, Bryndis E; Hreidarsdottir, Ingibjörg Th; Hardardottir, Hildur; Gunnarsdottir, Ingibjorg; [ 1 ] Univ Iceland, Landspitali Univ Hosp, Unit Nutr Res, Reykjavik, Iceland Show more [ 2 ] Univ Iceland, Fac Food Sci & Nutr, Reykjavik, Iceland [ 3 ] Akureyri Hosp, Dept Educ Sci & Qual, IS-600 Akureyri, Iceland Show more [ 4 ] Statens Serum Inst, Dept Epidemiol Res, Ctr Fetal Programming, Copenhagen, Denmark Show more [ 5 ] Landspitali Univ Hosp, Dept Obstet & Gynecol, Reykjavik, Iceland Show more [ 6 ] Univ Iceland, Fac Med, Reykjavik, Iceland (Wiley-Blackwell, 2019-01)
      Excessive gestational weight gain (GWG) is a risk factor for several adverse pregnancy outcomes, including macrosomia. Diet is one of the few modifiable risk factors identified. However, most dietary assessment methods are impractical for use in maternal care. This study evaluated whether a short dietary screening questionnaire could be used as a predictor of excessive GWG in a cohort of Icelandic women. The dietary data were collected in gestational weeks 11-14, using a 40-item food frequency screening questionnaire. The dietary data were transformed into 13 predefined dietary risk factors for an inadequate diet. Stepwise backward elimination was used to identify a reduced set of factors that best predicted excessive GWG. This set of variables was then used to calculate a combined dietary risk score (range 0-5). Information regarding outcomes, GWG (n = 1,326) and birth weight (n = 1,651), was extracted from maternal hospital records. In total, 36% had excessive GWG (Icelandic criteria), and 5% of infants were macrosomic (≥4,500 g). A high dietary risk score (characterized by a nonvaried diet, nonadequate frequency of consumption of fruits/vegetables, dairy, and whole grain intake, and excessive intake of sugar/artificially sweetened beverages and dairy) was associated with a higher risk of excessive GWG. Women with a high (≥4) versus low (≤2) risk score had higher risk of excessive GWG (relative risk = 1.23, 95% confidence interval, CI [1.002, 1.50]) and higher odds of delivering a macrosomic offspring (odds ratio = 2.20, 95% CI [1.14, 4.25]). The results indicate that asking simple questions about women's dietary intake early in pregnancy could identify women who should be prioritized for further dietary counselling and support.
    • Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci.

      Witoelar, Aree; Rongve, Arvid; Almdahl, Ina S; Ulstein, Ingun D; Engvig, Andreas; White, Linda R; Selbæk, Geir; Stordal, Eystein; Andersen, Fred; Brækhus, Anne; Saltvedt, Ingvild; Engedal, Knut; Hughes, Timothy; Bergh, Sverre; Bråthen, Geir; Bogdanovic, Nenad; Bettella, Francesco; Wang, Yunpeng; Athanasiu, Lavinia; Bahrami, Shahram; Le Hellard, Stephanie; Giddaluru, Sudheer; Dale, Anders M; Sando, Sigrid B; Steinberg, Stacy; Stefansson, Hreinn; Snaedal, Jon; Desikan, Rahul S; Stefansson, Kari; Aarsland, Dag; Djurovic, Srdjan; Fladby, Tormod; Andreassen, Ole A; 1 NORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. 2 Institute of Clinical Medicine, University of Oslo, Oslo, Norway. 3 Department of Molecular Medicine, University of Oslo, Oslo, Norway. 4 Department of Research and Innovation, Helse Fonna, Haugesund, Norway. 5 Department of Clinical Medicine, University of Bergen, Bergen, Norway. 6 Department of Neurology, Akershus University Hospital, Lørenskog, Norway. 7 University of Oslo, AHUS Campus, Oslo, Norway. 8 Department of Psychiatry of Old Age, Oslo University Hospital, Oslo, Norway. 9 Department of Internal Medicine, Oslo University Hospital, Oslo, Norway. 10 Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway. 11 Department of Neurology, St Olav's Hospital, Trondheim University Hospital, Trondheim, Norway. 12 Norwegian National Advisory Unit on Ageing and Health, Vestfold Hospital Trust, Tønsberg, Norway. 13 Institute of Health and Society, University of Oslo, Oslo, Norway. 14 Department of Psychiatry, Namsos Hospital, Namsos, Norway. 15 Department of Mental Health, Norwegian University of Science and Technology, Trondheim, Norway. 16 Department of Community Medicine, University of Tromsø, Tromsø, Norway. 17 Geriatric Department, University Hospital Oslo and University of Oslo, Oslo, Norway. 18 Department of Geriatrics, St. Olav's Hospital, Trondheim University Hospital, Trondheim, Norway. 19 Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. 20 Centre for Old Age Psychiatry Research, Innlandet Hospital Trust, Ottestad, Norway. 21 NORMENT, KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, Bergen, Norway. 22 Dr. Einar Martens Research Group for Biological Psychiatry, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway. 23 Departments of Cognitive Sciences, University of California, San Diego, La Jolla, CA, USA. 24 Departments of Neurosciences, University of California, San Diego, La Jolla, CA, USA. 25 Department of Radiology, University of California, San Diego, La Jolla, CA, USA. 26 deCODE Genetics, Reykjavik, Iceland. 27 Landspitali University Hospital, Department of Geriatrics, Reykjavik, Iceland. 28 Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA. 29 Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. 30 Center for Age-Related Diseases, Stavanger University Hospital, Stavanger, Norway. 31 NORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. o.a.andreassen@medisin.uio.no. 32 Institute of Clinical Medicine, University of Oslo, Oslo, Norway. o.a.andreassen@medisin.uio.no. (Nature Publishing Group, 2018-12-27)
      A large fraction of genetic risk factors for Alzheimer's Disease (AD) is still not identified, limiting the understanding of AD pathology and study of therapeutic targets. We conducted a genome-wide association study (GWAS) of AD cases and controls of European descent from the multi-center DemGene network across Norway and two independent European cohorts. In a two-stage process, we first performed a meta-analysis using GWAS results from 2,893 AD cases and 6,858 cognitively normal controls from Norway and 25,580 cases and 48,466 controls from the International Genomics of Alzheimer's Project (IGAP), denoted the discovery sample. Second, we selected the top hits (p < 1 × 10
    • Somatic late effects in 5-year survivors of neuroblastoma: a population-based cohort study within the Adult Life after Childhood Cancer in Scandinavia study.

      Norsker, Filippa Nyboe; Rechnitzer, Catherine; Cederkvist, Luise; Holmqvist, Anna Sällfors; Tryggvadottir, Laufey; Madanat-Harjuoja, Laura-Maria; Øra, Ingrid; Thorarinsdottir, Halldora K; Vettenranta, Kim; Bautz, Andrea; Schrøder, Henrik; Hasle, Henrik; Winther, Jeanette Falck; 1 Danish Cancer Society, Danish Cancer Society Research Center, Copenhagen, Denmark. 2 Department of Pediatrics, Copenhagen University Hospital, Copenhagen, Denmark. 3 Pediatric Oncology and Hematology, Skåne University Hospital, Lund, Sweden. 4 Department of Clinical Sciences, Lund University, Lund, Sweden. 5 Icelandic Cancer Registry, Reykjavik, Iceland. 6 Finnish Cancer Registry, Institute for Statistical and Epidemiological Cancer Research, Helsinki, Finland. 7 Pediatric Oncology, National University Hospital of Iceland, Reykjavik, Iceland. 8 University of Helsinki and Hospital for Children and Adolescents, Helsinki, Finland. 9 Aarhus University Hospital, Department of Pediatrics, Skejby, Aarhus, Denmark. (Wiley-Liss, 2018-12-15)
      Because of the rarity of neuroblastoma and poor survival until the 1990s, information on late effects in neuroblastoma survivors is sparse. We comprehensively reviewed the long-term risk for somatic disease in neuroblastoma survivors. We identified 721 5-year survivors of neuroblastoma in Nordic population-based cancer registries and identified late effects in national hospital registries covering the period 1977-2012. Detailed treatment information was available for 46% of the survivors. The disease-specific rates of hospitalization of survivors and of 152,231 randomly selected population comparisons were used to calculate standardized hospitalization rate ratios (SHRRs) and absolute excess risks (AERs). During 5,500 person-years of follow-up, 501 5-year survivors had a first hospital contact yielding a SHRR of 2.3 (95% CI 2.1-2.6) and a corresponding AER of 52 (95% CI 44-60) per 1,000 person-years. The highest relative risks were for diseases of blood and blood-forming organs (SHRR 3.8; 95% CI 2.7-5.4), endocrine diseases (3.6 [3.1-4.2]), circulatory system diseases (3.1 [2.5-3.8]), and diseases of the nervous system (3.0 [2.6-3.3]). Approximately 60% of the excess new hospitalizations of survivors were for diseases of the nervous system, urinary system, endocrine system, and bone and soft tissue. The relative risks and AERs were highest for the survivors most intensively treated. Survivors of neuroblastoma have a highly increased long-term risk for somatic late effects in all the main disease groups as compared to background levels. Our results are useful for counseling survivors and should contribute to improving health care planning in post-therapy clinics.
    • DPYD, TYMS and MTHFR Genes Polymorphism Frequencies in a Series of Turkish Colorectal Cancer Patients.

      Amirfallah, Arsalan; Kocal, Gizem Calibasi; Unal, Olcun Umit; Ellidokuz, Hulya; Oztop, Ilhan; Basbinar, Yasemin; [ 1 ] Univ Iceland, Fac Med, Biomed Ctr, IS-101 Reykjavik, Iceland Show more [ 2 ] Landspitali Univ Hosp, Dept Pathol, Cell Biol Unit, IS-101 Reykjavik, Iceland Show more [ 3 ] Dokuz Eylul Univ, Inst Oncol, Dept Basic Oncol, TR-35350 Izmir, Turkey [ 4 ] Genom Res Ctr BIFAGEM, Personalized Med & Pharmacogen, TR-3535 Izmir 0, Turkey Show more [ 5 ] Hlth Sci Univ, Bozyaka Educ & Res Hosp, Dept Internal Med, Div Med Oncol, TR-35170 Izmir, Turkey Show more [ 6 ] Dokuz Eylul Univ, Inst Oncol, Dept Prevent Oncol, TR-35350 Izmir, Turkey Show more [ 7 ] Dokuz Eylul Univ, Fac Med, Dept Med Informat & Biostat, TR-35350 Izmir, Turkey Show more [ 8 ] Dokuz Eylul Univ, Fac Med, Dept Clin Oncol, TR-35350 Izmir, Turkey Show more [ 9 ] Dokuz Eylul Univ, Inst Oncol, Dept Translat Oncol, TR-35350 Izmir, Turkey (MDPI AG, 2018-12-13)
      Fluoropyrimidine-based chemotherapy is extensively used for the treatment of solid cancers, including colorectal cancer. However, fluoropyrimidine-driven toxicities are a major problem in the management of the disease. The grade and type of the toxicities depend on demographic factors, but substantial inter-individual variation in fluoropyrimidine-related toxicity is partly explained by genetic factors. The aim of this study was to investigate the effect of
    • Identification of Lynch syndrome risk variants in the Romanian population.

      Iordache, Paul D; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes P; Sulem, Patrick; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Mates, Ioan Nicolae; Dobra, Mihai; Nicolae, Camelia; Kristjansdottir, Sigrun; Jonasson, Jon G; Manolescu, Andrei; Arnadottir, Gudny; Jensson, Brynjar; Jonasdottir, Aslaug; Sigurdsson, Asgeir; le Roux, Louise; Johannsdottir, Hrefna; Rafnar, Thorunn; Halldorsson, Bjarni V; Jinga, Viorel; Stefansson, Kari; 1 deCODE genetics/AMGEN, Reykjavik, Iceland. 2 School of Science and Engineering, Reykjavik University, Reykjavik, Iceland. 3 National Institute of Public Health, Bucharest, Romania. 4 Urology Department, 'Prof. Dr. Th. Burghele' Clinical Hospital, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania. 5 Department of Medical Genetics, Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania. 6 Carol Davila University of Medicine and Pharmacy, Dr. Carol Davila Central University Emergency Military Hospital, Bucharest, Romania. 7 St. Mary" General Surgery Clinic, University of Medicine and Pharmacy Carol Davila, Bucharest, Romania. 8 Carol Davila University of Medicine and Pharmacy, Bucharest, Romania. 9 Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland. 10 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. (Wiley, 2018-12-01)
      Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).
    • Obesity modulates the association between sleep apnea treatment and CHI3L1 levels but not CHIT1 activity in moderate to severe OSA: an observational study.

      Teitsdottir, Unnur Dilja; Arnardottir, Erna Sif; Bjornsdottir, Erla; Gislason, Thorarinn; Petersen, Petur Henry; 1 Faculty of Medicine, Department of Biochemistry and Molecular Biology, Biomedical Center, University of Iceland, Reykjavik, Iceland. udt1@hi.is. 2 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 3 Sleep Department, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland. 4 Reykjavik University, Reykjavik, Iceland. 5 Faculty of Medicine, Department of Biochemistry and Molecular Biology, Biomedical Center, University of Iceland, Reykjavik, Iceland. (Springer Heidelberg, 2018-12-01)
      The inflammatory markers chitinase-3-like protein 1 (CHI3L1) and chitotriosidase (CHIT1) have both been associated with cardiovascular complications. The aim of this preliminary observational study was to assess the roles and interaction of obstructive sleep apnea (OSA) severity and body mass index (BMI) with plasma CHI3L1 levels and CHIT1 activity in patients with moderate to severe OSA. The second aim was to assess the roles and interaction of positive airway pressure (PAP) treatment and BMI on the expression of the same proteins. The study included 97 OSA patients with an apnea-hypopnea index (AHI) ≥ 15 and full usage of PAP treatment after 4 months. Plasma CHI3L1 levels and CHIT1 activity were measured before and after treatment. Multiple linear regression analysis demonstrated an independent association of BMI on CHI3L1 levels (p < 0.05) but not on CHIT1 activity. The OSA severity markers (AHI and oxygen desaturation index) did not independently or in interaction with BMI levels associate with CHI3L1 levels or with CHIT1 activity (p > 0.05). A two-way repeated measures ANOVA revealed a significant interaction between PAP treatment effect (before vs. after) and BMI groups (< 35 kg/m Obesity independently associated with CHI3L1 levels. Association between OSA severity and CHI3L1 levels or CHIT1 activity (independent of or dependent on obesity level) could not be confirmed. However, decrease was observed in CHI3L1 levels after PAP treatment in severely obese OSA patients but not in those less obese.
    • Effect of Vaccination on Pneumococci Isolated from the Nasopharynx of Healthy Children and the Middle Ear of Children with Otitis Media in Iceland.

      Quirk, Sigríður J; Haraldsson, Gunnsteinn; Erlendsdóttir, Helga; Hjálmarsdóttir, Martha Á; van Tonder, Andries J; Hrafnkelsson, Birgir; Sigurdsson, Samuel; Bentley, Stephen D; Haraldsson, Ásgeir; Brueggemann, Angela B; Kristinsson, Karl G; [ 1 ] Univ Iceland, Fac Med, Reykjavik, Iceland Show more [ 2 ] Landspitali Univ Hosp, Dept Clin Microbiol, Reykjavik, Iceland Show more [ 3 ] Univ Iceland, Biomed Ctr, Reykjavik, Iceland Show more [ 4 ] Wellcome Sanger Inst, Parasites & Microbes, Hinxton, England Show more [ 5 ] Univ Iceland, Dept Math, Reykjavik, Iceland [ 6 ] Childrens Hosp Iceland, Reykjavik, Iceland Show more [ 7 ] Univ Oxford, Nuffield Dept Med, Oxford, England Show more [ 8 ] Imperial Coll London, Dept Med, London, England (American Society for Microbiology, 2018-12-01)
      Vaccination with pneumococcal conjugate vaccines (PCVs) disrupts the pneumococcal population. Our aim was to determine the impact of the 10-valent PCV on the serotypes, genetic lineages, and antimicrobial susceptibility of pneumococci isolated from children in Iceland. Pneumococci were collected between 2009 and 2017 from the nasopharynges of healthy children attending 15 day care centers and from the middle ears (MEs) of children with acute otitis media from the greater Reykjavik capital area. Isolates were serotyped and tested for antimicrobial susceptibility. Whole-genome sequencing (WGS) was performed on alternate isolates from 2009 to 2014, and serotypes and multilocus sequence types (STs) were extracted from the WGS data. Two study periods were defined: 2009 to 2011 (PreVac) and 2012 to 2017 (PostVac). The overall nasopharyngeal carriage rate was similar between the two periods (67.3% PreVac and 61.5% PostVac,
    • Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

      Styrkarsdottir, Unnur; Lund, Sigrun H; Thorleifsson, Gudmar; Zink, Florian; Stefansson, Olafur A; Sigurdsson, Jon K; Juliusson, Kristinn; Bjarnadottir, Kristbjörg; Sigurbjornsdottir, Sara; Jonsson, Stefan; Norland, Kristjan; Stefansdottir, Lilja; Sigurdsson, Asgeir; Sveinbjornsson, Gardar; Oddsson, Asmundur; Bjornsdottir, Gyda; Gudmundsson, Reynir L; Halldorsson, Gisli H; Rafnar, Thorunn; Jonsdottir, Ingileif; Steingrimsson, Eirikur; Norddahl, Gudmundur L; Masson, Gisli; Sulem, Patrick; Jonsson, Helgi; Ingvarsson, Thorvaldur; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Stefansson, Kari; 1 deCODE genetics/Amgen, Inc., Reykjavik, Iceland. unnur.styrkarsdottir@decode.is. 2 deCODE genetics/Amgen, Inc., Reykjavik, Iceland. 3 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 4 Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 5 Department of Immunology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 6 Department of Medicine, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. 7 Department of Orthopedic Surgery, Akureyri Hospital, Akureyri, Iceland. 8 Institution of Health Science, University of Akureyri, Akureyri, Iceland. 9 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 10 deCODE genetics/Amgen, Inc., Reykjavik, Iceland. kstefans@decode.is. 11 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kstefans@decode.is. (Nature Publishing Group, 2018-12-01)
      Osteoarthritis has a highly negative impact on quality of life because of the associated pain and loss of joint function. Here we describe the largest meta-analysis so far of osteoarthritis of the hip and the knee in samples from Iceland and the UK Biobank (including 17,151 hip osteoarthritis patients, 23,877 knee osteoarthritis patients, and more than 562,000 controls). We found 23 independent associations at 22 loci in the additive meta-analyses, of which 16 of the loci were novel: 12 for hip and 4 for knee osteoarthritis. Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10
    • Multiple transmissions of de novo mutations in families.

      Jónsson, Hákon; Sulem, Patrick; Arnadottir, Gudny A; Pálsson, Gunnar; Eggertsson, Hannes P; Kristmundsdottir, Snaedis; Zink, Florian; Kehr, Birte; Hjorleifsson, Kristjan E; Jensson, Brynjar Ö; Jonsdottir, Ingileif; Marelsson, Sigurdur Einar; Gudjonsson, Sigurjon Axel; Gylfason, Arnaldur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Stacey, Simon N; Magnusson, Olafur Th; Thorsteinsdottir, Unnur; Masson, Gisli; Kong, Augustine; Halldorsson, Bjarni V; Helgason, Agnar; Gudbjartsson, Daniel F; Stefansson, Kari; 1 deCODE genetics/Amgen Inc., Reykjavik, Iceland. 2 Department of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland. 3 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 4 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 5 School of Science and Engineering, Reykjavik University, Reykjavík, Iceland. 6 Department of Anthropology, University of Iceland, Reykjavik, Iceland. 7 deCODE genetics/Amgen Inc., Reykjavik, Iceland. daniel.gudbjartsson@decode.is. 8 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. daniel.gudbjartsson@decode.is. 9 deCODE genetics/Amgen Inc., Reykjavik, Iceland. kari.stefansson@decode.is. 10 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. kari.stefansson@decode.is. (Nature Publishing Group, 2018-12-01)
      De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs from 251 families and identified 878 DNMs shared by siblings (ssDNMs) at 448 genomic sites. We estimated DNM recurrence probability based on parental mosaicism, sharing of DNMs among siblings, parent-of-origin, mutation type and genomic position. We detected 57.2% of ssDNMs in the parental blood. The recurrence probability of a DNM decreases by 2.27% per year for paternal DNMs and 1.78% per year for maternal DNMs. Maternal ssDNMs are more likely to be T>C mutations than paternal ssDNMs, and less likely to be C>T mutations. Depending on the properties of the DNM, the recurrence probability ranges from 0.011% to 28.5%. We have launched an online calculator to allow estimation of DNM recurrence probability for research purposes.
    • Obstetric interventions, trends, and drivers of change: A 20-year population-based study from Iceland.

      Swift, Emma M; Tomasson, Gunnar; Gottfreðsdóttir, Helga; Einarsdóttir, Kristjana; Zoega, Helga; 1 Department of Midwifery, Faculty of Nursing, University of Iceland, Reykjavík, Iceland. 2 Faculty of Medicince, University of Iceland, Reykjavík, Iceland. 3 Department of Obstetric and Gynecology, Women's Clinic, Landspitali University Hospital, Reykjavík, Iceland. 4 Faculty of Medicine, Centre of Public Health Sciences, University of Iceland, Reykjavík, Iceland. 5 Faculty of Medicine, Centre for Big Data Research in Health, University of New South Wales, Sydney, NSW, Australia. (Wiley, 2018-12-01)
      Population data on obstetric interventions is often limited to cesarean delivery. We aimed to provide a more comprehensive overview of trends in use of several common obstetric interventions over the past 2 decades. The study was based on nationwide data from the Icelandic Medical Birth Register. Incidence of labor induction, epidural analgesia, cesarean, and instrumental delivery was calculated for all births in 1995-2014. Change over time was expressed as relative risk (RR), using Poisson regression with 95% confidence intervals (CI) adjusted for several maternal and pregnancy-related characteristics. Analyses were stratified by women's parity and diagnosis of diabetes or hypertensive disorder. During the study period, there were 81 389 intended vaginal births and 5544 elective cesarean deliveries. Among both primiparous and multiparous women, we observed a marked increase across time for labor induction (RR 1.78 [CI 1.67-1.91] and RR 1.83 [CI 1.73-1.93], respectively) and epidural analgesia (RR 1.40 [CI 1.36-1.45] and RR 1.74 [CI 1.66-1.83], respectively). A similar trend of smaller magnitude was observed among women with hypertensive disorders but no time trend was observed among women with diabetes. Incidence of cesarean and instrumental delivery remained stable across time. The use of labor induction and epidural analgesia increased considerably over time, while the cesarean delivery rate remained low and stable. Increases in labor induction and epidural analgesia were most pronounced for women without a diagnosis of diabetes or hypertensive disorder and were not explained by maternal characteristics such as advanced age.
    • NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia.

      Tulstrup, Morten; Grosjean, Marie; Nielsen, Stine Nygaard; Grell, Kathrine; Wolthers, Benjamin Ole; Wegener, Peder Skov; Jonsson, Olafur Gisli; Lund, Bendik; Harila-Saari, Arja; Abrahamsson, Jonas; Vaitkeviciene, Goda; Pruunsild, Kaie; Toft, Nina; Holm, Mette; Hulegårdh, Erik; Liestøl, Sigurd; Griskevicius, Laimonas; Punab, Mari; Wang, Jinhua; Carroll, William L; Zhang, Zeyu; Dalgaard, Marlene D; Gupta, Ramneek; Nersting, Jacob; Schmiegelow, Kjeld; 1 Department of Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark. 2 Department of Bio and Health Informatics, Technical University of Denmark, Kongens Lyngby, Denmark. 3 Section of Biostatistics, Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. 4 Department of Pediatric Hematology and Oncology, H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark. 5 Department of Pediatrics, Landspitali University Hospital, Reykjavík, Iceland. 6 Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway. 7 Department of Laboratory Medicine, Faculty of Medicine and Health sciences, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway. 8 Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden. 9 Department of Pediatrics, Institution for Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 10 Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. 11 Department of Onco-haematology, Talinn Children's Hospital, Talinn, Estonia. 12 Department of Hematology, University Hospital Rishospitalet, Copenhagen, Denmark. 13 Department of Haematology, Aarhus University Hospital, Aarhus, Denmark. 14 Department of Hematology and Coagulation, Sahlgrenska University Hospital, Göteborg, Sweden. 15 Department of Hematology, Ullevål University Hospital, Faculty Division Ullevål University Hospital, University of Oslo, Oslo, Norway. 16 Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. 17 Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania. 18 Clinic of Hematology and Oncology, Tartu University Clinic, Tartu, Estonia. 19 Masonic Cancer Center, Institute for Health Informatics, University of Minnesota, Minneapolis, MN, USA. 20 Department of Pediatrics, New York University Medical Center, Perlmutter Cancer Center, New York, NY, USA. 21 Sino-Danish Center for Education and Research, University of Chinese Academy of Sciences, Beijing, China. 22 Department of Pediatrics and Adolescent Medicine, University Hospital Rigshospitalet, Copenhagen, Denmark. kjeld.schmiegelow@regionh.dk. 23 Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. kjeld.schmiegelow@regionh.dk. (Nature Publishing Group, 2018-12-01)
      The antileukaemic drug 6-mercaptopurine is converted into thioguanine nucleotides (TGN) and incorporated into DNA (DNA-TG), the active end metabolite. In a series of genome-wide association studies, we analysed time-weighted means (
    • The impact of nursing education and job characteristics on nurse's perceptions of their family nursing practice skills.

      Svavarsdottir, Erla Kolbrun; Sigurdardottir, Anna Olafia; Konradsdottir, Elisabet; Tryggvadottir, Gudny Bergthora; 1 University of Iceland, School of Health Sciences, Faculty of Nursing, Reykjavik, Iceland. 2 Landspitali- The National University Hospital in Iceland, Reykjavik, Iceland. 3 University of Iceland, Statistical Unit, Reykjavik, Iceland. (Wiley, 2018-12-01)
      Implementing family system nursing in clinical settings is on the rise. However, little is known about the impact of graduate school education as well as continuing education in family systems nursing (FSN) on nurses' perceptions of their family nursing practice. To evaluate the level of nursing education, having taken a continuing hospital educational course in family system nursing (FN-ETI programme), and the impact of job characteristics on nurses' perceptions of their family nursing practice skills. Participants were 436 nurses with either a BSc degree or graduate degree in nursing. The Job Demand, Control and Support model guided the study (R. Karasek and T. Theorell, 1992, Healthy Work: Stress, Productivity, and the Reconstruction of Working Life, Basic Books, New York, NY). Scores for the characteristics of job demands and job control were created to categorise participants into four job types: high strain (high demand, low control), passive (low demand, low control), low strain (low demand, high control) and active (high demand, high control). Nurses with a graduate education who had taken the FN-ETI programme scored significantly higher on the Family Nursing Practice Scale than nurses with an undergraduate education. Nurses who were characterised as low strain or active scored significantly higher on the Family Nursing Practice Scale than the nurses who were characterised as high strain. Further, the interaction of education by job type was significant regarding family nursing practice skills. Hierarchical regression revealed 25% of the variance in family nursing practice skills was explained by job control, family policy on the unit, graduate education and employment on the following divisions: Maternal-Child, Emergency, Mental Health or Internal Medicine.
    • Sleep duration and 24-hour ambulatory blood pressure in adults not on antihypertensive medications.

      Shulman, Rachel; Cohen, Debbie L; Grandner, Michael A; Gislason, Thorarinn; Pack, Allan I; Kuna, Samuel T; Townsend, Raymond R; Cohen, Jordana B; 1 Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 2 Renal-Electrolyte and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 3 Sleep and Health Research Program, Department of Psychiatry, University of Arizona, Tucson, Arizona. 4 Department of Sleep Medicine, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland. 5 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 6 Center for Sleep and Circadian Neurobiology, University of Pennsylvania, Philadelphia, Pennsylvania. 7 Division of Sleep Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 8 Department of Medicine, Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania. 9 Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. (Wiley, 2018-12-01)
      Short sleep duration has been widely linked to increased cardiovascular morbidity and mortality. We performed a post hoc analysis of 24-hour ambulatory blood pressure monitoring (ABPM) in the Lifestyle Modification in Blood Pressure Lowering Study (LIMBS) and Penn Icelandic Sleep Apnea (PISA) Study. The 24-hour mean systolic blood pressure (BP) was 12.7 mm Hg higher in LIMBS (P < 0.001; n = 66) and 4.7 mm Hg higher in PISA (P = 0.005; n = 153) among participants with shorter sleep duration (less than 7 hours) compared to those with longer sleep duration (at least 7 hours). In multivariable adjusted models, shorter sleep duration was strongly associated with higher systolic BP on 24-hour ABPM, independent of nocturnal BP and in-office BP. There was no effect modification by obstructive sleep apnea. Adults with shorter sleep duration may benefit from screening with 24-hour ABPM to promote earlier detection of hypertension and potentially mitigate their increased risk for future cardiovascular disease.